Name Chr MapInfo Alleles Transcript(s) Gene(s) In-exon Mutation(s) 1:49554-G-A 1 49554 [A/G] JHU_1.115745 1 115746 [T/C] JHU_1.534237 1 534238 [A/C] rs9701055 1 565433 [T/C] JHU_1.565475 1 565476 [G/C] M:5591-G-A 1 566140 [A/G] ilmnseq_rs9651229_F2BT 1 567667 [T/C] ilmnseq_rs9701872 1 568208 [T/C] ilmnseq_rs9701872_ilmndup1 1 568208 [T/C] ilmnseq_rs11497407 1 568527 [A/G] MitoA8870G 1 569418 [A/G] JHU_1.721123 1 721124 [A/G] JHU_1.737262 1 737263 [A/G] JHU_1.746188 1 746189 [A/G] rs3131972 1 752721 [A/G] JHU_1.753404 1 753405 [A/C] NR_103536 FAM87B EXON Silent rs114339855 1 754429 [T/G] NR_103536 FAM87B EXON Silent JHU_1.761190 1 761191 [T/C] JHU_1.761763 1 761764 [A/G] NR_024321 LINC00115 EXON Silent JHU_1.761957 1 761958 [T/C] NR_024321 LINC00115 EXON Silent 1:762187-CT 1 762187 [T/C] NR_024321 LINC00115 EXON Silent exm2268640 1 762320 [T/C] NR_024321 LINC00115 EXON Silent JHU_1.762319 1 762320 [T/C] NR_024321 LINC00115 EXON Silent JHU_1.765886 1 765887 [A/C] NR_047524,NR_047519,NR_047526,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent,Silent rs12562034 1 768448 [A/G] NR_047524,NR_047519,NR_047526,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent,Silent rs12562811 1 768819 [T/C] NR_047524,NR_047519,NR_047526,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.769373 1 769374 [A/G] NR_047524,NR_047519,NR_047526,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent,Silent rs112563271 1 770377 [A/T] NR_047524,NR_047519,NR_047526,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent,Silent rs192240200 1 771704 [A/G] NR_047524,NR_047519,NR_047526,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.773997 1 773998 [T/C] NR_047524,NR_047519,NR_047526,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.775124 1 775125 [T/C] NR_047524,NR_047519,NR_047526,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.775425 1 775426 [A/G] NR_047524,NR_047519,NR_047526,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.776393 1 776394 [A/G] NR_047524,NR_047519,NR_047526,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent,Silent rs149978434 1 779286 [A/C] NR_047524,NR_047519,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent JHU_1.779743 1 779744 [T/G] NR_047524,NR_047519,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent JHU_1.787261 1 787262 [G/C] NR_047524,NR_047519,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 Silent,Silent,Silent,Silent,Silent JHU_1.791852 1 791853 [A/G] NR_047524,NR_047519,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 EXON Silent,Silent,Silent,Silent,Silent JHU_1.793769 1 793770 [A/G] NR_047524,NR_047519,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 EXON Silent,Silent,Silent,Silent,Silent JHU_1.794331 1 794332 [A/G] NR_047524,NR_047519,NR_047523,NR_047521,NR_047525 LINC01128,LINC01128,LINC01128,LINC01128,LINC01128 EXON Silent,Silent,Silent,Silent,Silent rs11240777 1 798959 [A/G] JHU_1.801942 1 801943 [T/C] JHU_1.805555 1 805556 [T/A] NR_027055 FAM41C Silent JHU_1.814865 1 814866 [T/G] JHU_1.816202 1 816203 [T/C] JHU_1.816428 1 816429 [T/G] JHU_1.817211 1 817212 [A/C] JHU_1.817545 1 817546 [A/G] JHU_1.817836 1 817837 [A/G] rs35660652 1 821926 [G/C] JHU_1.821925 1 821926 [G/C] JHU_1.822103 1 822104 [A/C] JHU_1.822878 1 822879 [T/A] JHU_1.822908 1 822909 [A/C] JHU_1.823089 1 823090 [A/G] rs7538305 1 824398 [A/C] JHU_1.824533 1 824534 [T/C] JHU_1.825248 1 825249 [T/C] JHU_1.825774 1 825775 [T/C] JHU_1.825944 1 825945 [T/C] JHU_1.826085 1 826086 [T/C] JHU_1.826140 1 826141 [A/G] JHU_1.834752 1 834753 [C/G] rs116452738 1 834830 [A/G] rs4970383 1 838555 [A/C] rs28678693 1 838665 [T/C] JHU_1.840326 1 840327 [A/G] rs28625089 1 840327 [A/G] JHU_1.840752 1 840753 [T/C] rs61769713 1 844300 [C/G] rs60454217 1 846465 [T/C] rs4475691 1 846808 [T/C] rs151325546 1 850373 [A/G] JHU_1.850909 1 850910 [T/C] 1:851713-T-C 1 851713 [T/C] JHU_1.851813 1 851814 [A/G] rs7518702 1 852133 [T/C] rs116447845 1 852187 [A/G] rs145967175 1 852820 [T/C] NR_122045,NR_026874 LINC02593,LINC02593 EXON Silent,Silent rs7537756 1 854250 [A/G] NR_122045,NR_026874 LINC02593,LINC02593 EXON Silent,Silent rs113648919 1 855359 [T/C] rs77568453 1 855949 [A/G] JHU_1.857827 1 857828 [A/G] exm41 1 861349 [T/C] NM_152486 SAMD11 EXON Missense_P10S rs139858754 1 861728 [T/C] NM_152486 SAMD11 Silent rs115239915 1 862683 [A/G] NM_152486 SAMD11 Silent rs35485427 1 863776 [A/C] NM_152486 SAMD11 Silent rs35854196 1 863863 [A/G] NM_152486 SAMD11 Silent 1:865580-GA 1 865580 [A/G] NM_152486 SAMD11 EXON Missense_A40T exm44 1 865584 [A/G] NM_152486 SAMD11 EXON Missense_R41Q 1:865602-GA 1 865602 [A/G] NM_152486 SAMD11 EXON Missense_R47Q exm46 1 865625 [A/G] NM_152486 SAMD11 EXON Missense_D55N exm51 1 865662 [A/G] NM_152486 SAMD11 EXON Missense_R67Q 1:865664-CT 1 865664 [T/C] NM_152486 SAMD11 EXON Missense_R68W exm53 1 865665 [A/G] NM_152486 SAMD11 EXON Missense_R68Q exm55 1 865694 [T/C] NM_152486 SAMD11 EXON Missense_H78Y exm56 1 865700 [T/C] NM_152486 SAMD11 EXON Missense_R80C exm60 1 866429 [T/C] NM_152486 SAMD11 EXON Missense_H89Y exm63 1 866438 [A/G] NM_152486 SAMD11 EXON Missense_V92M rs2880024 1 866893 [T/C] NM_152486 SAMD11 Silent JHU_1.867441 1 867442 [T/C] NM_152486 SAMD11 Silent rs13302914 1 868404 [T/C] NM_152486 SAMD11 Silent JHU_1.869070 1 869071 [A/G] NM_152486 SAMD11 Silent rs74047411 1 870754 [T/C] NM_152486 SAMD11 Silent JHU_1.870810 1 870811 [A/G] NM_152486 SAMD11 Silent exm67 1 871159 [A/G] NM_152486 SAMD11 EXON Missense_G105S 1:871192-CT 1 871192 [T/C] NM_152486 SAMD11 EXON Missense_R116C exm74 1 871213 [C/G] NM_152486 SAMD11 EXON Missense_P123A exm85 1 871276 [A/G] NM_152486 SAMD11 EXON Missense_G144S JHU_1.872615 1 872616 [A/G] NM_152486 SAMD11 Silent rs76723341 1 872952 [T/C] NM_152486 SAMD11 Silent JHU_1.872951 1 872952 [T/C] NM_152486 SAMD11 Silent JHU_1.873461 1 873462 [T/G] NM_152486 SAMD11 Silent 1:874432-GA 1 874432 [A/G] NM_152486 SAMD11 EXON Missense_G148D exm88 1 874456 [A/G] NM_152486 SAMD11 EXON Missense_R156H exm94 1 874501 [T/C] NM_152486 SAMD11 EXON Missense_S171L exm101 1 874673 [A/G] NM_152486 SAMD11 EXON Missense_R180Q exm104 1 874714 [T/C] NM_152486 SAMD11 EXON Missense_R194W JHU_1.874926 1 874927 [A/G] NM_152486 SAMD11 Silent rs145881258 1 876067 [T/C] NM_152486 SAMD11 Silent 1:878363-GA 1 878363 [A/G] NM_152486 SAMD11 EXON Missense_E497K 1:878397-CT 1 878397 [T/C] NM_152486 SAMD11 EXON Missense_P508L exm145 1 878423 [T/C] NM_152486 SAMD11 EXON Missense_P517S 1:878681-AG 1 878681 [A/G] NM_152486 SAMD11 EXON Missense_E538G exm151 1 878697 [A/G] NM_152486 SAMD11 EXON Nonsense_W543X exm158 1 878744 [G/C] NM_152486 SAMD11 EXON Missense_G559A 1:879153-CT 1 879153 [T/C] NM_152486 SAMD11 EXON Synonymous_L589L 1:879195-CT 1 879195 [T/C] NM_152486 SAMD11 Silent exm174 1 879297 [T/C] NM_152486 SAMD11 EXON Missense_R604C 1:879317-CT 1 879317 [T/C] NM_152486 SAMD11 EXON Synonymous_Y610Y exm1917884 1 879364 [A/G] NM_152486 SAMD11 EXON Missense_R626Q 1:879371-GA 1 879371 [A/G] NM_152486 SAMD11 EXON Synonymous_P628P 1:879376-GA 1 879376 [A/G] NM_152486 SAMD11 EXON Missense_R630Q exm192 1 879381 [T/C] NM_152486 SAMD11 EXON Missense_L632F 1:879384-GA 1 879384 [A/G] NM_152486 SAMD11 EXON Missense_G633S 1:879431-TC 1 879431 [T/C] NM_152486 SAMD11 EXON Synonymous_Y648Y exm2275405 1 879439 [A/G] NM_152486 SAMD11 EXON Missense_G651D exm210 1 879481 [C/G] NM_152486 SAMD11 EXON Missense_G665A 1:879576-CT 1 879576 [T/C] NM_152486 SAMD11 EXON Silent JHU_1.879575 1 879576 [T/C] NM_152486 SAMD11 EXON Silent 1:879618-CT 1 879618 [T/C] NM_152486,NM_015658 SAMD11,NOC2L EXON Silent,Silent exm222 1 880160 [T/C] NM_015658 NOC2L EXON Missense_A722T exm2253572 1 880167 [A/G] NM_015658 NOC2L EXON Synonymous_D719D 1:880175-CT 1 880175 [T/C] NM_015658 NOC2L EXON Missense_D717N exm241 1 880502 [T/C] NM_015658 NOC2L EXON Missense_R693Q exm246 1 880922 [T/C] NM_015658 NOC2L EXON Missense_D677N exm248 1 880942 [A/G] NM_015658 NOC2L EXON Missense_L670P exm249 1 880943 [A/G] NM_015658 NOC2L EXON Synonymous_L670L exm255 1 881554 [T/C] NM_015658 NOC2L EXON Missense_R639Q 1:881602-CT 1 881602 [T/C] NM_015658 NOC2L EXON Missense_R623H 1:881619-CA 1 881619 [A/C] NM_015658 NOC2L EXON Missense_L617F exm2253575 1 881627 [A/G] NM_015658 NOC2L EXON Synonymous_L615L exm2233921 1 881784 [T/C] NM_015658 NOC2L EXON Missense_V601M exm1917942 1 881825 [T/C] NM_015658 NOC2L EXON Missense_R587H 1:881886-AG 1 881886 [A/G] NM_015658 NOC2L EXON Missense_C567R exm268 1 881894 [A/G] NM_015658 NOC2L EXON Missense_A564V exm269 1 881918 [A/G] NM_015658 NOC2L EXON Missense_S556L 1:883549-TC 1 883549 [T/C] NM_015658 NOC2L EXON Missense_I541V exm284 1 883899 [T/G] NM_015658 NOC2L EXON Missense_N510H exm289 1 883947 [A/G] NM_015658 NOC2L EXON Missense_R494C JHU_1.884100 1 884101 [A/C] NM_015658 NOC2L Silent rs78729032 1 885155 [G/C] NM_015658 NOC2L Silent 1:886533-TC 1 886533 [T/C] NM_015658 NOC2L EXON Missense_I473V 1:886551-CA 1 886551 [A/C] NM_015658 NOC2L EXON Missense_G467W 1:886572-GA 1 886572 [A/G] NM_015658 NOC2L EXON Missense_R460C 1:886620-TG 1 886620 [T/G] NM_015658 NOC2L Silent JHU_1.886816 1 886817 [T/C] NM_015658 NOC2L Silent 1:887433-CT-C 1 887433 [I/D] NM_015658 NOC2L EXON 1:887436-GT 1 887436 [T/G] NM_015658 NOC2L EXON Missense_S425R variant.16 1 887521 [T/C] NM_015658 NOC2L Silent exm314 1 887799 [T/C] NM_015658 NOC2L EXON Missense_R395H exm1918034 1 887812 [A/C] NM_015658 NOC2L EXON Missense_A391S exm323 1 887874 [A/G] NM_015658 NOC2L EXON Missense_P370L exm328 1 887967 [A/G] NM_015658 NOC2L EXON Missense_T339M exm332 1 888563 [T/C] NM_015658 NOC2L EXON Missense_V332I 1:888593-GA 1 888593 [A/G] NM_015658 NOC2L EXON Missense_R322W exm340 1 888659 [T/C] NM_015658 NOC2L EXON Missense_I300V exm352 1 889387 [T/C] NM_015658 NOC2L EXON Missense_I258M exm355 1 889403 [T/A] NM_015658 NOC2L EXON Missense_Y253F 1:889502-GA 1 889502 [A/G] NM_015658 NOC2L Silent exm360 1 891309 [T/C] NM_015658 NOC2L EXON Missense_S231N exm371 1 891384 [A/G] NM_015658 NOC2L EXON Missense_A206V exm382 1 891591 [T/C] NM_015658 NOC2L EXON Missense_R164H exm383 1 891592 [A/G] NM_015658 NOC2L EXON Missense_R164C JHU_1.891658 1 891659 [A/G] NM_015658 NOC2L Silent rs58879223 1 892012 [T/C] NM_015658 NOC2L Silent exm395 1 892380 [A/G] NM_015658 NOC2L EXON Missense_A127V exm396 1 892388 [G/C] NM_015658 NOC2L EXON Missense_E124D 1:892534-GA 1 892534 [A/G] NM_015658 NOC2L EXON Missense_S100L exm1918242 1 892648 [T/C] NM_015658 NOC2L EXON Missense_R62H exm410 1 894315 [A/G] NM_015658 NOC2L EXON Missense_S58L exm411 1 894330 [A/G] NM_015658 NOC2L EXON Missense_P53L exm2264981 1 894573 [A/G] NM_015658 NOC2L Silent exm425 1 894610 [A/G] NM_015658 NOC2L EXON Missense_A4V 1:896806-GA 1 896806 [A/G] NM_198317 KLHL17 EXON Missense_A81T exm447 1 897009 [A/G] NM_198317 KLHL17 EXON Missense_N123S 1:897032-AG 1 897032 [A/G] NM_198317 KLHL17 EXON Missense_T131A exm464 1 897285 [A/G] NM_198317 KLHL17 EXON Missense_D190G 1:897336-GT 1 897336 [T/G] NM_198317 KLHL17 EXON Missense_S207I 1:897440-GA 1 897440 [A/G] NM_198317 KLHL17 Silent 1:897501-GA 1 897501 [A/G] NM_198317 KLHL17 Silent 1:897564-TC 1 897564 [T/C] NM_198317 KLHL17 Silent 1:897793-GA 1 897793 [A/G] NM_198317 KLHL17 EXON Missense_R257Q exm493 1 897849 [T/C] NM_198317 KLHL17 EXON Missense_R276W rs79008338 1 897879 [T/C] NM_198317 KLHL17 Silent JHU_1.898118 1 898119 [T/C] NM_198317 KLHL17 EXON Synonymous_R288R exm503 1 898153 [A/C] NM_198317 KLHL17 EXON Missense_L300M exm513 1 898247 [A/G] NM_198317 KLHL17 EXON Missense_R331H 1:898511-CA 1 898511 [A/C] NM_198317 KLHL17 EXON Synonymous_I355I 1:898535-CT 1 898535 [T/C] NM_198317 KLHL17 EXON Synonymous_D363D exm534 1 898542 [A/G] NM_198317 KLHL17 EXON Missense_T366A exm545 1 898782 [T/C] NM_198317 KLHL17 EXON Missense_P418L exm546 1 898787 [T/G] NM_198317 KLHL17 EXON Missense_V420L 1:898824-CT 1 898824 [T/C] NM_198317 KLHL17 EXON Missense_A432V exm564 1 899489 [A/G] NM_198317 KLHL17 EXON Missense_G483R exm570 1 899537 [A/G] NM_198317 KLHL17 EXON Missense_T499A chr1_899911 1 899911 [T/G] NM_198317 KLHL17 Silent JHU_1.900207 1 900208 [A/G] NM_198317 KLHL17 Silent exm2253593 1 900427 [A/G] NM_198317 KLHL17 EXON Synonymous_E595E exm596 1 900427 [A/G] NM_198317 KLHL17 EXON Synonymous_E595E 1:900501-CT 1 900501 [T/C] NM_198317 KLHL17 EXON Missense_A620V exm603 1 900519 [A/G] NM_198317 KLHL17 EXON Missense_N626S exm611 1 900560 [A/C] NM_198317 KLHL17 EXON Missense_T640P JHU_1.900729 1 900730 [A/G] NM_198317 KLHL17 EXON Silent exm1918827 1 901922 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S4N,Missense_S4N 1:902124-GA 1 902124 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_E42K,Missense_E42K exm629 1 902133 [C/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R45G,Missense_R45G 1:902148-GA 1 902148 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_A50T,Missense_A50T exm635 1 902176 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_P59L,Missense_P59L 1:902182-CT 1 902182 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_T61M,Missense_T61M JHU_1.902748 1 902749 [G/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 Silent,Silent JHU_1.903320 1 903321 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 Silent,Silent rs28391282 1 904165 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 Silent,Silent JHU_1.904714 1 904715 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 Silent,Silent JHU_1.904751 1 904752 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 Silent,Silent JHU_1.905016 1 905017 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 Silent,Silent exm636 1 905669 [G/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_L66V,Missense_L66V exm638 1 905723 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_G84R,Missense_G84R exm648 1 905901 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_D111N,Missense_D111N 1:905953-GC-G 1 905953 [D/I] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON exm662 1 906100 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_P149L,Missense_P149L 1:906112-CT 1 906112 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S153F,Missense_S153F exm668 1 906132 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_I160V,Missense_I160V 1:906156-CT 1 906156 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 Silent,Silent exm674 1 906298 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R175Q,Missense_R175Q exm684 1 906494 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R205H,Missense_R217H 1:906496-CA 1 906496 [A/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R206S,Missense_R218S exm687 1 906512 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R211Q,Missense_R223Q 1:906550-TC 1 906550 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_C224R,Missense_C236R 1:906708-AG 1 906708 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_Q238R,Missense_Q250R exm697 1 906717 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R241Q,Missense_R253Q 1:906758-GA 1 906758 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_E255K,Missense_E267K rs28687571 1 906974 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 Silent,Silent JHU_1.907009 1 907010 [G/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 Silent,Silent 1:907476-GA 1 907476 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_V271I,Missense_V283I 1:907512-CT 1 907512 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R283C,Missense_R295C exm714 1 907676 [T/A] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_I292F,Missense_I304F exm717 1 907709 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_E303K,Missense_E315K 1:907742-GA 1 907742 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_A314T,Missense_A326T 1:907758-AG 1 907758 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_E319G,Missense_E331G exm727 1 908275 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_G346D,Missense_G358D exm1918959 1 908323 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R362H,Missense_R374H 1:908325-AC 1 908325 [A/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_T363P,Missense_T375P exm738 1 908389 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_P384L,Missense_P396L 1:908572-GA 1 908572 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_A387T,Silent exm741 1 908585 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R391H,Silent exm742 1 908587 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_A392T,Silent chr1_908599 1 908599 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Nonsense_R396X,Silent 1:908644-GA 1 908644 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_G411R,Silent 1:908902-GA 1 908902 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S439N,Missense_S404N exm762 1 908944 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S453L,Missense_S418L exm767 1 909015 [G/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_E477Q,Missense_E442Q 1:909221-TG 1 909221 [T/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S481R,Missense_S446R 1:909222-GA 1 909222 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_A482T,Missense_A447T exm773 1 909238 [G/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R487P,Missense_R452P exm777 1 909253 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S492L,Missense_S457L exm779 1 909268 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S497L,Missense_S462L exm781 1 909276 [T/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_V500L,Missense_V465L exm792 1 909381 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R535W,Missense_R500W 1:909908-CA 1 909908 [A/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_Q597K,Missense_Q562K rs201388099 1 909963 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Silent,Silent JHU_1.910437 1 910438 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Silent,Silent JHU_1.910472 1 910473 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Silent,Silent 1:911595-AG 1 911595 [A/G] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_V683A,Missense_V777A JHU_1.913888 1 913889 [A/G] NM_001291367,NM_001291366 PERM1,PERM1 Silent,Silent chr1_914435 1 914435 [A/C] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_V565F,Missense_V659F 1:914512-GA 1 914512 [A/G] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_S539F,Missense_S633F 1:914573-GA 1 914573 [A/G] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_P519S,Missense_P613S JHU_1.914609 1 914610 [T/C] NM_001291367,NM_001291366 PERM1,PERM1 EXON Synonymous_A506A,Synonymous_A600A 1:914680-GA 1 914680 [A/G] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_A483V,Missense_A577V 1:914876-TC 1 914876 [T/C] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_S418G,Missense_S512G 1:915440-AG 1 915440 [A/G] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_S230P,Missense_S324P Variant12284 1 915573 [I/D] NM_001291367,NM_001291366 PERM1,PERM1 EXON 1:915592-CT 1 915592 [T/C] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_R179H,Missense_R273H chr1_915685 1 915685 [A/G] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_S148F,Missense_S242F 1:916530-CT 1 916530 [T/C] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_G26D,Silent 1:917470-GA 1 917470 [A/G] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_R10C,Silent 1:917494-GA 1 917494 [A/G] NM_001291367,NM_001291366 PERM1,PERM1 EXON Missense_P2S,Silent rs41285816 1 917640 [A/G] rs150407889 1 918305 [A/G] rs2341354 1 918573 [A/G] JHU_1.919418 1 919419 [T/C] JHU_1.919488 1 919489 [T/C] JHU_1.919500 1 919501 [T/G] JHU_1.919634 1 919635 [T/C] JHU_1.919854 1 919855 [A/G] JHU_1.921070 1 921071 [A/G] JHU_1.923410 1 923411 [A/T] rs9777703 1 928836 [T/C] rs74718486 1 931500 [T/C] rs1891910 1 932457 [A/G] 1:934444-GA 1 934444 [A/G] NM_021170,NM_001142467 HES4,HES4 EXON Missense_R221C,Missense_R247C exm861 1 934770 [A/G] NM_021170,NM_001142467 HES4,HES4 EXON Missense_A112V,Missense_A138V 1:934782-CT 1 934782 [T/C] NM_021170,NM_001142467 HES4,HES4 EXON Missense_G108D,Missense_G134D 1:934990-AG 1 934990 [A/G] NM_021170,NM_001142467 HES4,HES4 EXON Missense_S70P,Missense_S96P exm878 1 935085 [A/G] NM_021170,NM_001142467 HES4,HES4 EXON Missense_A64V,Missense_A90V exm880 1 935089 [C/G] NM_021170,NM_001142467 HES4,HES4 EXON Missense_D63H,Missense_D89H JHU_1.936712 1 936713 [T/G] JHU_1.942608 1 942609 [T/C] JHU_1.943125 1 943126 [T/C] rs3128117 1 944564 [T/C] rs2465124 1 949235 [A/G] NM_005101 ISG15 Silent exm897 1 949422 [A/G] NM_005101 ISG15 EXON Missense_S21N rs202075563 1 949472 [A/G] NM_005101 ISG15 EXON Missense_V38M exm904 1 949491 [A/G] NM_005101 ISG15 EXON Missense_R44H rs148041041 1 949491 [A/G] NM_005101 ISG15 EXON Missense_R44H 1:949569-CT 1 949569 [T/C] NM_005101 ISG15 EXON Missense_T70M exm912 1 949608 [A/G] NM_005101 ISG15 EXON Missense_S83N 1:949718-GA 1 949718 [A/G] NM_005101 ISG15 EXON Missense_D120N 1:949781-GA 1 949781 [A/G] NM_005101 ISG15 EXON Missense_G141S exm925 1 949802 [A/G] NM_005101 ISG15 EXON Missense_V148M 1:949823-CT 1 949823 [T/C] NM_005101 ISG15 EXON Missense_R155W exm928 1 949832 [A/G] NM_005101 ISG15 EXON Missense_G158S 1:957624-GA 1 957624 [A/G] NM_198576,NM_001305275 AGRN,AGRN EXON Missense_R82Q,Missense_R82Q 1:957677-CA 1 957677 [A/C] NM_198576,NM_001305275 AGRN,AGRN EXON Missense_P100T,Missense_P100T rs2799064 1 957898 [T/G] NM_198576,NM_001305275 AGRN,AGRN Silent,Silent JHU_1.958016 1 958017 [A/G] NM_198576,NM_001305275 AGRN,AGRN Silent,Silent JHU_1.959508 1 959509 [T/G] NM_198576,NM_001305275 AGRN,AGRN Silent,Silent JHU_1.961966 1 961967 [A/G] NM_198576,NM_001305275 AGRN,AGRN Silent,Silent rs4970393 1 962606 [A/G] NM_198576,NM_001305275 AGRN,AGRN Silent,Silent JHU_1.962756 1 962757 [A/G] NM_198576,NM_001305275 AGRN,AGRN Silent,Silent JHU_1.963012 1 963013 [T/C] NM_198576,NM_001305275 AGRN,AGRN Silent,Silent rs147784721 1 968945 [A/G] NM_198576,NM_001305275 AGRN,AGRN Silent,Silent JHU_1.970454 1 970455 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN Silent,Silent,Silent exm958 1 970687 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P165L,Missense_P165L,Missense_P60L rs2710883 1 971367 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN Silent,Silent,Silent rs3121578 1 974894 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN Silent,Silent,Silent JHU_1.976562 1 976563 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Synonymous_D246D,Synonymous_D246D,Synonymous_D141D 1:976612-GA 1 976612 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A263T,Missense_A263T,Missense_A158T 1:976962-C-T 1 976962 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Nonsense_Q353X,Nonsense_Q353X,Nonsense_Q248X exm988 1 976963 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_Q353R,Missense_Q353R,Missense_Q248R exm999 1 977356 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R400W,Missense_R400W,Missense_R295W exm1013 1 978628 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P465L,Missense_P465L,Missense_P360L rs199563268 1 978642 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G470R,Missense_G470R,Missense_G365R exm1016 1 978645 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V471M,Missense_V471M,Missense_V366M exm1019 1 978694 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A487V,Missense_A487V,Missense_A382V exm1022 1 978747 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_D505N,Missense_D505N,Missense_D400N exm1024 1 978762 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G510S,Missense_G510S,Missense_G405S rs138288952 1 978762 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G510S,Missense_G510S,Missense_G405S 1:978801-GA 1 978801 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G523R,Missense_G523R,Missense_G418R rs144164397 1 978804 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R524W,Missense_R524W,Missense_R419W rs79016973 1 978974 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V554M,Missense_V554M,Missense_V449M exm1039 1 978974 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V554M,Missense_V554M,Missense_V449M 1:979002-CT 1 979002 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A563V,Missense_A563V,Missense_A458V 1:979269-GA 1 979269 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R622Q,Missense_R622Q,Missense_R517Q 1:979373-GA 1 979373 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_E657K,Missense_E657K,Missense_E552K exm1061 1 979397 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_E665K,Missense_E665K,Missense_E560K rs143324306 1 979397 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_E665K,Missense_E665K,Missense_E560K exm1062 1 979400 [G/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_Q666E,Missense_Q666E,Missense_Q561E exm1063 1 979491 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_E668K,Missense_E668K,Missense_E563K 1:979575-GA 1 979575 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_E696K,Missense_E696K,Missense_E591K exm1078 1 979594 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P702L,Missense_P702L,Missense_P597L exm1079 1 979720 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G719S,Missense_G719S,Missense_G614S exm1081 1 979748 [T/A] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_E728V,Missense_E728V,Missense_E623V rs113288277 1 979748 [T/A] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_E728V,Missense_E728V,Missense_E623V exm1084 1 980552 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A756T,Missense_A756T,Missense_A651T exm1085 1 980556 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P757L,Missense_P757L,Missense_P652L exm1089 1 980595 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P770L,Missense_P770L,Missense_P665L 1:980624-GA 1 980624 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A780T,Missense_A780T,Missense_A675T exm1101 1 980863 [G/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_N832K,Missense_N832K,Missense_N727K rs146243145 1 980868 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R834Q,Missense_R834Q,Missense_R729Q 1:980868-GA 1 980868 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R834Q,Missense_R834Q,Missense_R729Q exm1107 1 980903 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P846S,Missense_P846S,Missense_P741S exm1110 1 981131 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_Q852R,Missense_Q852R,Missense_Q747R exm1957023 1 981139 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V855M,Missense_V855M,Missense_V750M rs200684031 1 981139 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V855M,Missense_V855M,Missense_V750M rs202061838 1 981244 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G890S,Missense_G890S,Missense_G785S exm1124 1 981353 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A897V,Missense_A897V,Missense_A792V exm1125 1 981359 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A899V,Missense_A899V,Missense_A794V exm1127 1 981376 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R905C,Missense_R905C,Missense_R800C exm1131 1 981394 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R911W,Missense_R911W,Missense_R806W 1:981400-GA 1 981400 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V913M,Missense_V913M,Missense_V808M 1:981434-CT 1 981434 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P924L,Missense_P924L,Missense_P819L 1:981594-GA 1 981594 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A954T,Missense_A954T,Missense_A849T 1:981801-CT 1 981801 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P979L,Missense_P979L,Missense_P874L 1:981921-CT 1 981921 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1019L,Missense_P1019L,Missense_P914L exm1160 1 981942 [A/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1026N,Missense_T1026N,Missense_T921N 1:981984-CT 1 981984 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1040M,Missense_T1040M,Missense_T935M exm1164 1 981996 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1044M,Missense_T1044M,Missense_T939M 1:982116-GA 1 982116 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN Silent,Silent,Silent exm1170 1 982213 [C/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_L1088F,Missense_L1088F,Missense_L983F 1:982235-CT 1 982235 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1096S,Missense_P1096S,Missense_P991S exm1179 1 982722 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_Q1135R,Missense_Q1135R,Missense_Q1030R 1:982960-AG 1 982960 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_D1175G,Missense_D1175G,Missense_D1070G exm1193 1 982968 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1178W,Missense_R1178W,Missense_R1073W rs149268246 1 982968 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1178W,Missense_R1178W,Missense_R1073W exm1194 1 982969 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1178Q,Missense_R1178Q,Missense_R1073Q exm1196 1 983005 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1190H,Missense_R1190H,Missense_R1085H rs149762107 1 983005 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1190H,Missense_R1190H,Missense_R1085H exm1198 1 983011 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1192Q,Missense_R1192Q,Missense_R1087Q exm1957373 1 983040 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1202T,Missense_A1202T,Missense_A1097T rs148948883 1 983040 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1202T,Missense_A1202T,Missense_A1097T 1:983240-GA 1 983240 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1239Q,Missense_R1239Q,Missense_R1134Q exm1206 1 983243 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1240L,Missense_P1240L,Missense_P1135L rs142620337 1 983243 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1240L,Missense_P1240L,Missense_P1135L ilmnseq_rs536657086 1 983256 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Synonymous_H1244H,Synonymous_H1244H,Synonymous_H1139H exm1210 1 983404 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1255V,Missense_A1255V,Missense_A1150V 1:983499-CT 1 983499 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1287W,Missense_R1287W,Missense_R1182W exm1219 1 983506 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1289L,Missense_P1289L,Missense_P1184L 1:983545-CT 1 983545 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1302M,Missense_T1302M,Missense_T1197M 1:983553-CA 1 983553 [A/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1305T,Missense_P1305T,Missense_P1200T 1:983563-GA 1 983563 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1308H,Missense_R1308H,Missense_R1203H 1:983611-CT 1 983611 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1324L,Missense_P1324L,Missense_P1219L 1:983624-GT 1 983624 [T/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_Q1328H,Missense_Q1328H,Missense_Q1223H 1:983671-GT 1 983671 [T/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_C1344F,Missense_C1344F,Missense_C1239F 1:983680-GT 1 983680 [T/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_W1347L,Missense_W1347L,Missense_W1242L 1:983682-GA 1 983682 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1348T,Missense_A1348T,Missense_A1243T JHU_1.983769 1 983770 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN Silent,Silent,Silent 1:984273-GT 1 984273 [T/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Nonsense_E1378X,Nonsense_E1378X,Nonsense_E1273X exm1234 1 984280 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1380H,Missense_R1380H,Missense_R1275H 1:984310-CA 1 984310 [A/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1390D,Missense_A1390D,Missense_A1285D 1:984343-GT 1 984343 [T/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1401L,Missense_R1401L,Missense_R1296L 1:984384-GA 1 984384 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1415T,Missense_A1415T,Missense_A1310T 1:984412-CT 1 984412 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1424V,Missense_A1424V,Missense_A1319V 1:984457-C-G 1 984457 [C/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN Silent,Silent,Silent 1:984638-GA 1 984638 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1441T,Missense_A1441T,Missense_A1336T exm1247 1 984660 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1448L,Missense_P1448L,Missense_P1343L exm1256 1 984723 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_S1469L,Missense_S1469L,Missense_S1364L exm1258 1 984794 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_L1493F,Missense_L1493F,Missense_L1388F rs112917612 1 984847 [C/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN Silent,Silent,Silent exm1957592 1 984947 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1506T,Missense_A1506T,Missense_A1401T 1:984956-CT 1 984956 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1509W,Missense_R1509W,Missense_R1404W 1:984957-GA 1 984957 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1509Q,Missense_R1509Q,Missense_R1404Q 1:984960-CA 1 984960 [A/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1510N,Missense_T1510N,Missense_T1405N exm1264 1 984965 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V1512M,Missense_V1512M,Missense_V1407M exm1265 1 984971 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1514T,Missense_A1514T,Missense_A1409T 1:984993-GA 1 984993 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1521H,Missense_R1521H,Missense_R1416H 1:985004-GA 1 985004 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V1525I,Missense_V1525I,Missense_V1420I 1:985008-AG 1 985008 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_N1526S,Missense_N1526S,Missense_N1421S exm1269 1 985038 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1536L,Missense_P1536L,Missense_P1431L 1:985053-GA 1 985053 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1541Q,Missense_R1541Q,Missense_R1436Q 1:985170-GA 1 985170 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1580H,Missense_R1580H,Missense_R1475H 1:985297-GA 1 985297 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_D1587N,Missense_D1587N,Missense_D1482N JHU_1.985459 1 985460 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN Silent,Silent,Silent exm1300 1 985614 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Synonymous_A1627A,Synonymous_A1627A,Synonymous_A1522A 1:985699-CT 1 985699 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1656W,Missense_R1656W,Missense_R1551W 1:985879-AGAC-A 1 985879 [I/D] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON 1:985905-CT 1 985905 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_S1692L,Missense_S1692L,Missense_S1587L 1:985923-GA 1 985923 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1698H,Missense_R1698H,Missense_R1593H 1:985955-G-C 1 985955 [C/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G1709R,Missense_G1709R,Missense_G1604R 1:986143-G-T 1 986143 [T/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V1727F,Missense_V1727F,Missense_V1622F 1:986164-CT 1 986164 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1734C,Missense_R1734C,Missense_R1629C exm1334 1 986165 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1734H,Missense_R1734H,Missense_R1629H 1:986681-GA 1 986681 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1768T,Synonymous_A1771A,Synonymous_A1666A rs144245019 1 986732 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_D1785N,Synonymous_S1788S,Synonymous_S1683S exm1348 1 986732 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_D1785N,Synonymous_S1788S,Synonymous_S1683S 1:986864-CT 1 986864 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1801L,Missense_R1805W,Missense_R1700W chr1_986871 1 986871 [A/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_H1803Q,Missense_T1807K,Missense_T1702K 1:986878-CT 1 986878 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_R1806W,Synonymous_C1809C,Synonymous_C1704C 1:986903-CT 1 986903 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1814V,Nonsense_Q1818X,Nonsense_Q1713X 1:986911-CT 1 986911 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1817S,Synonymous_T1820T,Synonymous_T1715T 1:986912-CA 1 986912 [A/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1817H,Missense_P1821T,Missense_P1716T rs145116277 1 986963 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1834L,Nonsense_R1838X,Nonsense_R1733X exm1957908 1 986963 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1834L,Nonsense_R1838X,Nonsense_R1733X exm1368 1 986998 [G/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G1846R,Synonymous_G1849G,Synonymous_G1744G Variant37590 1 987012 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Synonymous_P1850P,Missense_R1854H,Missense_R1749H chr1_987189 1 987189 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1882I,Missense_P1886S,Missense_P1781S 1:987386-GA 1 987386 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Silent,Missense_M1892I,Silent JHU_1.987393 1 987394 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Silent,Missense_P1895L,Silent JHU_1.988171 1 988172 [T/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN Silent,Silent,Silent exm1381 1 989155 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_H1892Y,Synonymous_T1914T,Synonymous_T1790T 1:989177-CA 1 989177 [A/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1899N,Missense_L1922M,Missense_L1798M 1:989210-GA 1 989210 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_G1910D,Missense_A1933T,Missense_A1809T exm1388 1 989216 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_A1912V,Missense_P1935S,Missense_P1811S exm1389 1 989219 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_T1913M,Missense_R1936W,Missense_R1812W 1:989233-CTA-C 1 989233 [I/D] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON 1:989294-CT 1 989294 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_P1938L,Missense_P1961S,Missense_P1837S 1:989320-GA 1 989320 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Missense_V1947I,Synonymous_P1969P,Synonymous_P1845P JHU_1.989460 1 989461 [A/G] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN Silent,Silent,Silent rs2465136 1 990417 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Silent,Silent,Silent rs2799072 1 990773 [T/C] NM_198576,NM_001305275,NM_001364727 AGRN,AGRN,AGRN EXON Silent,Silent,Silent JHU_1.992041 1 992042 [T/C] rs72900480 1 993859 [A/G] rs115803283 1 994332 [T/C] JHU_1.996247 1 996248 [T/C] NR_148960 LOC100288175 Silent rs7526076 1 998395 [A/G] NR_148960 LOC100288175 Silent JHU_1.1000909 1 1000910 [T/C] NR_148960 LOC100288175 Silent 1:1007274-GA 1 1007274 [A/G] NM_001205252 RNF223 EXON Missense_R225C 1:1007306-GA 1 1007306 [A/G] NM_001205252 RNF223 EXON Missense_P214L 1:1007496-GT 1 1007496 [T/G] NM_001205252 RNF223 EXON Missense_P151T 1:1007636-GT 1 1007636 [T/G] NM_001205252 RNF223 EXON Missense_P104H 1:1007673-CT 1 1007673 [T/C] NM_001205252 RNF223 EXON Missense_G92S rs11810785 1 1011095 [A/G] JHU_1.1011094 1 1011095 [A/G] rs4970402 1 1014955 [G/C] JHU_1.1017019 1 1017020 [A/G] Variant37591 1 1018307 [T/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_A188D,Missense_A334D,Missense_A370D rs9442372 1 1018704 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent 1:1019295-CT 1 1019295 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Missense_V314I,Missense_V350I JHU_1.1019313 1 1019314 [T/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Synonymous_G307G,Synonymous_G343G 1:1019323-AG 1 1019323 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Synonymous_A304A,Synonymous_A340A 1:1019360-CT 1 1019360 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Missense_R292H,Missense_R328H 1:1019367-CT 1 1019367 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Missense_G290S,Missense_G326S 1:1019408-AG 1 1019408 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Missense_L276P,Missense_L312P 1:1019444-CA 1 1019444 [A/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Missense_R264M,Missense_R300M 1:1019573-CT 1 1019573 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Missense_R221Q,Missense_R257Q 1:1019627-CT 1 1019627 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Missense_R203Q,Missense_R239Q 1:1019651-GA 1 1019651 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Missense_T195M,Missense_T231M 1:1019717-CT 1 1019717 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Missense_R173H,Missense_R209H 1:1019747-GA 1 1019747 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_P163L,Missense_P163L,Missense_P199L 1:1019841-GA 1 1019841 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent 1:1021260-TG 1 1021260 [T/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_K148T,Missense_K148T,Missense_K184T 1:1021283-TG-T 1 1021283 [D/I] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON exm1690136 1 1021285 [T/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_P140T,Missense_P140T,Missense_P176T exm1470 1 1021302 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_K134R,Missense_K134R,Missense_K170R exm1471 1 1021315 [A/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_F130V,Missense_F130V,Missense_F166V 1:1021383-CT 1 1021383 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_R107H,Missense_R107H,Missense_R143H exm1475 1 1021386 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_P106L,Missense_P106L,Missense_P142L exm1480 1 1022534 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_G99R,Missense_G99R,Missense_G135R 1:1022548-CT 1 1022548 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_S94N,Missense_S94N,Missense_S130N JHU_1.1023787 1 1023788 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent JHU_1.1025269 1 1025270 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent exm1494 1 1025751 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_A44T,Missense_A44T,Missense_A80T JHU_1.1026070 1 1026071 [A/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent 1:1026359-GA 1 1026359 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Silent,Silent,Missense_T26M exm1507 1 1026913 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 EXON Missense_R4Q,Missense_R4Q,Missense_R4Q JHU_1.1026961 1 1026962 [A/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent JHU_1.1027069 1 1027070 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent rs12731175 1 1030374 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent rs6687776 1 1030565 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent rs9651273 1 1031540 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent JHU_1.1035084 1 1035085 [G/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent JHU_1.1035162 1 1035163 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent rs6671356 1 1040026 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent rs141322389 1 1040365 [A/G] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent rs12080505 1 1045606 [A/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent rs183484241 1 1047129 [G/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent rs111483565 1 1048640 [A/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent rs182675273 1 1048914 [T/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent JHU_1.1050477 1 1050478 [A/C] NM_017891,NM_001363525,NM_001330306 C1orf159,C1orf159,C1orf159 Silent,Silent,Silent JHU_1.1055032 1 1055033 [T/C] JHU_1.1055838 1 1055839 [A/G] rs34381538 1 1061602 [A/G] JHU_1.1061673 1 1061674 [A/T] rs9329411 1 1062025 [A/G] rs9442373 1 1062638 [A/C] JHU_1.1065070 1 1065071 [T/C] JHU_1.1065295 1 1065296 [T/C] JHU_1.1066028 1 1066029 [A/G] rs10907182 1 1066403 [T/C] JHU_1.1066444 1 1066445 [T/C] JHU_1.1067395 1 1067396 [A/G] JHU_1.1068882 1 1068883 [A/G] rs6699173 1 1069187 [A/G] JHU_1.1069566 1 1069567 [A/G] JHU_1.1070157 1 1070158 [A/G] JHU_1.1070368 1 1070369 [A/G] rs139475585 1 1070467 [A/G] JHU_1.1070466 1 1070467 [A/G] JHU_1.1071353 1 1071354 [A/G] JHU_1.1071676 1 1071677 [A/G] JHU_1.1072180 1 1072181 [T/C] JHU_1.1074236 1 1074237 [A/T] NR_038869 LINC01342 Silent 1:1139801del184 1 1075182 [I/D] NR_038869 LINC01342 1:1076471-A-G 1 1076471 [A/G] NR_038869 LINC01342 Silent rs11260603 1 1079198 [T/C] NR_038869 LINC01342 EXON Silent JHU_1.1081185 1 1081186 [A/G] rs187906419 1 1081780 [T/G] JHU_1.1082828 1 1082829 [A/G] JHU_1.1084717 1 1084718 [T/C] rs116009746 1 1084794 [A/G] JHU_1.1086481 1 1086482 [T/C] JHU_1.1086616 1 1086617 [T/C] JHU_1.1092460 1 1092461 [A/G] rs56863140 1 1092599 [C/G] JHU_1.1093161 1 1093162 [A/G] rs61768477 1 1095130 [T/C] rs74955549 1 1096937 [T/C] JHU_1.1096991 1 1096992 [A/G] rs9442385 1 1097335 [T/G] JHU_1.1098826 1 1098827 [A/C] rs76051810 1 1099840 [A/G] JHU_1.1105237 1 1105238 [T/C] JHU_1.1105781 1 1105782 [G/C] rs4442317 1 1106784 [T/C] rs115710046 1 1107147 [A/G] rs11260535 1 1107842 [G/C] JHU_1.1108555 1 1108556 [A/G] rs11260542 1 1110019 [A/G] NM_001130045 TTLL10 Silent JHU_1.1110069 1 1110070 [A/G] NM_001130045 TTLL10 Silent 1:1111032-GA 1 1111032 [A/G] NM_001130045 TTLL10 Silent 1:1111095-CT 1 1111095 [T/C] NM_001130045 TTLL10 Silent rs6671609 1 1112982 [T/C] NM_001130045 TTLL10 Silent rs12092254 1 1113121 [A/G] NM_001130045 TTLL10 Silent 1:1114747-CA 1 1114747 [A/C] NM_001130045 TTLL10 Silent 1:1115084-GA 1 1115084 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_G56S,Silent 1:1115438-GA 1 1115438 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_G75E,Missense_G2E exm1550 1 1115461 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R83W,Missense_R10W exm1551 1 1115464 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_C84R,Missense_C11R exm1553 1 1115503 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_C97R,Missense_C24R exm1554 1 1115510 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_P99L,Missense_P26L Variant3 1 1115544 [D/I] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Variant12286 1 1115551 [D/I] NM_001130045,NM_153254 TTLL10,TTLL10 EXON 1:1115555-CA 1 1115555 [A/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_P114H,Missense_P41H exm1558 1 1115576 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R121Q,Missense_R48Q exm1560 1 1115602 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_A130T,Missense_A57T exm1565 1 1115674 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R154W,Missense_R81W exm1571 1 1115954 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Nonsense_R200X,Nonsense_R127X exm1572 1 1115955 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R200Q,Missense_R127Q exm1580 1 1116182 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R233W,Missense_R160W exm1581 1 1116183 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R233Q,Missense_R160Q exm1582 1 1116188 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R235W,Missense_R162W exm1583 1 1116189 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R235Q,Missense_R162Q exm1584 1 1116195 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R237Q,Missense_R164Q 1:1117126-GA-G 1 1117126 [I/D] NM_001130045,NM_153254 TTLL10,TTLL10 EXON 1:1117134-GT 1 1117134 [T/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_A257S,Missense_A184S exm1592 1 1117159 [T/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_L265R,Missense_L192R 1:1117778-CT 1 1117778 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R290C,Missense_R217C exm1601 1 1117800 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R297K,Missense_R224K 1:1118318-CT 1 1118318 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R327W,Missense_R254W exm1609 1 1118330 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_E331K,Missense_E258K 1:1118337-CT 1 1118337 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_A333V,Missense_A260V 1:1118412-CT 1 1118412 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_A358V,Missense_A285V exm1626 1 1119361 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_I384V,Missense_I311V JHU_1.1119398 1 1119399 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Synonymous_H396H,Synonymous_H323H exm1631 1 1119410 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R400H,Missense_R327H 1:1119454-GA 1 1119454 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_G415S,Missense_G342S JHU_1.1119857 1 1119858 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 Silent,Silent JHU_1.1120369 1 1120370 [G/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_L428V,Missense_L355V exm1640 1 1120370 [G/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_L428V,Missense_L355V exm1641 1 1120377 [A/T] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_M430K,Missense_M357K exm1645 1 1120421 [T/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_R445C,Missense_R372C exm1646 1 1120431 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_S448N,Missense_S375N JHU_1.1120430 1 1120431 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_S448N,Missense_S375N exm1649 1 1120488 [A/C] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Missense_K467T,Missense_K394T exm2249617 1 1120489 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Synonymous_K467K,Synonymous_K394K exm1651 1 1120494 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Silent,Missense_R396H exm1654 1 1120503 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Silent,Missense_C399Y JHU_1.1120535 1 1120536 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Silent,Silent rs3813204 1 1121014 [A/G] NM_001130045,NM_153254 TTLL10,TTLL10 EXON Silent,Silent JHU_1.1121423 1 1121424 [A/G] NM_001130045 TTLL10 Silent rs11260549 1 1121794 [A/G] NM_001130045 TTLL10 Silent rs6684820 1 1124663 [A/G] NM_001130045 TTLL10 Silent rs140922799 1 1126182 [T/G] NM_001130045 TTLL10 Silent JHU_1.1128217 1 1128218 [A/C] NM_001130045 TTLL10 Silent rs10907175 1 1130727 [A/C] NM_001130045 TTLL10 Silent 1:1132085-GA 1 1132085 [A/G] NM_001130045 TTLL10 EXON Missense_D503N chr1_1132907 1 1132907 [A/G] NM_001130045 TTLL10 EXON Missense_G568S 1:1133187-CA 1 1133187 [A/C] NM_001130045 TTLL10 EXON Missense_A661D 1:1133212-GT 1 1133212 [T/G] NM_001130045 TTLL10 EXON Missense_E669D rs3819001 1 1138913 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Silent,Silent 1:1139081-GT 1 1139081 [T/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R220S,Silent,Silent 1:1139134-CA 1 1139134 [A/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R202L,Silent,Silent exm1687 1 1139251 [G/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R163T,Missense_K226N,Missense_K233N 1:1139263-CT 1 1139263 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R159Q,Synonymous_S222S,Synonymous_S229S exm1688 1 1139268 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Synonymous_S157S,Nonsense_R221X,Nonsense_R228X exm1691 1 1139277 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Synonymous_S154S,Missense_R218W,Missense_R225W exm1693 1 1139308 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_T144M,Synonymous_D207D,Synonymous_D214D exm1695 1 1139320 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R140H,Synonymous_P203P,Synonymous_P210P 1:1139416-CT 1 1139416 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Silent,Missense_R200Q Variant37595 1 1139417 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Silent,Nonsense_R200X 1:1139470-GA 1 1139470 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Missense_S182L,Missense_S182L 1:1139539-GA 1 1139539 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Missense_P159L,Missense_P159L 1:1139555-CT 1 1139555 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Missense_V154I,Missense_V154I exm1701740 1 1139603 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Missense_G138R,Missense_G138R 1:1139827-GA 1 1139827 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_S117L,Missense_S117L,Missense_S117L rs76030777 1 1140153 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 Silent,Silent,Silent 1:1140762-AC-A 1 1140762 [D/I] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON 1:1140765-CA 1 1140765 [A/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_G99W,Missense_G99W,Missense_G99W exm1726 1 1140855 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_E69K,Missense_E69K,Missense_E69K JHU_1.1142253 1 1142254 [C/G] rs3753350 1 1144196 [T/C] rs2298208 1 1146399 [T/C] exm1761 1 1147337 [T/C] NM_003327 TNFRSF4 EXON Missense_V207M Variant37596 1 1147446 [T/G] NM_003327 TNFRSF4 EXON Missense_D170E exm1769 1 1147462 [A/G] NM_003327 TNFRSF4 EXON Missense_I165T exm1771 1 1147486 [A/G] NM_003327 TNFRSF4 EXON Missense_P157L 1:1148037-CA 1 1148037 [A/C] NM_003327 TNFRSF4 EXON Missense_A140S 1:1148038-CA 1 1148038 [A/C] NM_003327 TNFRSF4 EXON Missense_Q139H 1:1148040-GT 1 1148040 [T/G] NM_003327 TNFRSF4 EXON Missense_Q139K exm1782 1 1148449 [A/G] NM_003327 TNFRSF4 EXON Missense_L98P 1:1149072-GA 1 1149072 [A/G] NM_003327 TNFRSF4 EXON Missense_P80L exm1789 1 1149105 [A/G] NM_003327 TNFRSF4 EXON Missense_P69L exm1790 1 1149109 [T/C] NM_003327 TNFRSF4 EXON Missense_G68R 1:1149114-GA 1 1149114 [A/G] NM_003327 TNFRSF4 EXON Missense_P66L 1:1149141-CT 1 1149141 [T/C] NM_003327 TNFRSF4 EXON Missense_S57N 1:1149425-CA 1 1149425 [A/C] NM_003327 TNFRSF4 EXON Missense_G28V 1:1149492-GA 1 1149492 [A/G] NM_003327 TNFRSF4 EXON Missense_R6W rs3813201 1 1151232 [T/C] exm1808 1 1152917 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_A355V,Silent exm1812 1 1152971 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E337G,Silent exm1822 1 1153047 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E312K,Silent exm1702568 1 1153073 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Silent,Missense_R342C exm1829 1 1153099 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Silent,Missense_A333V exm1832 1 1153129 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Silent,Missense_R323Q exm1839 1 1153858 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_V298M,Missense_V298M 1:1153944-TG 1 1153944 [T/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_Q269P,Missense_Q269P 1:1154314-GA 1 1154314 [A/G] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent 1:1154343-CT 1 1154343 [T/C] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent 1:1154374-GA 1 1154374 [A/G] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent JHU_1.1154603 1 1154604 [T/C] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent JHU_1.1155260 1 1155261 [T/C] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent JHU_1.1155320 1 1155321 [T/C] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent JHU_1.1157958 1 1157959 [T/C] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent rs3813199 1 1158277 [A/G] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent JHU_1.1158356 1 1158357 [A/G] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent rs6603781 1 1158631 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Synonymous_D190D,Synonymous_D190D exm1862 1 1158672 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_V177I,Missense_V177I 1KG_1_1158675 1 1158675 [I/D] NM_016176,NM_016547 SDF4,SDF4 EXON 1:1158698-GA 1 1158698 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_A168V,Missense_A168V exm1864 1 1159213 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Synonymous_D154D,Synonymous_D154D JHU_1.1159516 1 1159517 [T/C] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent rs6667998 1 1159540 [A/G] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent JHU_1.1161716 1 1161717 [T/C] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent JHU_1.1161742 1 1161743 [A/C] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent exm1872 1 1163881 [T/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_R98Q,Missense_R98Q exm1885 1 1164015 [A/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E53D,Missense_E53D exm1886 1 1164018 [G/C] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_E52D,Missense_E52D exm1890 1 1164065 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_R37W,Missense_R37W exm1892 1 1164073 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_A34V,Missense_A34V 1:1164163-GA 1 1164163 [A/G] NM_016176,NM_016547 SDF4,SDF4 EXON Missense_P4L,Missense_P4L rs116359778 1 1164564 [T/C] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent JHU_1.1166388 1 1166389 [T/A] NM_016176,NM_016547 SDF4,SDF4 Silent,Silent 1:1167674-C-T 1 1167674 [T/C] NM_080605 B3GALT6 EXON Missense_R6W Variant15856 1 1168011 [I/D] NM_080605 B3GALT6 EXON 1:1168084-GA 1 1168084 [A/G] NM_080605 B3GALT6 EXON Nonsense_W142X 1:1168124-G-A 1 1168124 [A/G] NM_080605 B3GALT6 EXON Missense_D156N 1:1168143-GA 1 1168143 [A/G] NM_080605 B3GALT6 EXON Missense_R162Q 1:1168262-GA 1 1168262 [A/G] NM_080605 B3GALT6 EXON Missense_A202T 1:1168325-GA 1 1168325 [A/G] NM_080605 B3GALT6 EXON Missense_D223N 1:1168352-C-T 1 1168352 [T/C] NM_080605 B3GALT6 EXON Missense_R232C 1:1168367-GT 1 1168367 [T/G] NM_080605 B3GALT6 EXON Missense_A237S 1:1168436-CA 1 1168436 [A/C] NM_080605 B3GALT6 EXON Missense_P260T 1:1168471-CA 1 1168471 [A/C] NM_080605 B3GALT6 EXON Nonsense_C271X 1:1168504-CA 1 1168504 [A/C] NM_080605 B3GALT6 EXON Missense_S282R exm1924 1 1168511 [A/G] NM_080605 B3GALT6 EXON Missense_D285N 1:1168583-T-A 1 1168583 [A/T] NM_080605 B3GALT6 EXON Missense_S309T rs78424188 1 1170587 [T/C] JHU_1.1171416 1 1171417 [T/C] JHU_1.1172084 1 1172085 [T/C] JHU_1.1173065 1 1173066 [T/C] rs4970364 1 1174282 [T/C] JHU_1.1174506 1 1174507 [A/C] JHU_1.1177820 1 1177821 [A/G] 1:1177948-CT 1 1177948 [T/C] NM_001014980 C1QTNF12 EXON Missense_G297R exm1932 1 1177981 [T/C] NM_001014980 C1QTNF12 EXON Missense_V286I 1:1178010-GT 1 1178010 [T/G] NM_001014980 C1QTNF12 EXON Missense_S276Y 1:1178240-TG 1 1178240 [T/G] NM_001014980 C1QTNF12 EXON Missense_Q262P exm1703904 1 1178280 [T/C] NM_001014980 C1QTNF12 EXON Missense_V249I 1:1178441-CT 1 1178441 [T/C] NM_001014980 C1QTNF12 Silent exm1949 1 1178442 [A/G] NM_001014980 C1QTNF12 EXON Missense_T244M 1:1178448-CT 1 1178448 [T/C] NM_001014980 C1QTNF12 EXON Missense_R242H 1:1178500-GA 1 1178500 [A/G] NM_001014980 C1QTNF12 EXON Missense_R225W 1:1178518-GT 1 1178518 [T/G] NM_001014980 C1QTNF12 EXON Missense_Q219K exm1965 1 1178848 [A/G] NM_001014980 C1QTNF12 EXON Nonsense_Q206X exm1966 1 1178854 [T/C] NM_001014980 C1QTNF12 EXON Missense_I204V 1:1178856-CT 1 1178856 [T/C] NM_001014980 C1QTNF12 EXON Missense_G203D exm1968 1 1178883 [A/G] NM_001014980 C1QTNF12 EXON Missense_S194L exm1971 1 1178925 [A/G] NM_001014980 C1QTNF12 EXON Missense_A180V exm1975 1 1179365 [T/C] NM_001014980 C1QTNF12 EXON Missense_R167Q 1:1179380-CT 1 1179380 [T/C] NM_001014980 C1QTNF12 EXON Missense_R162H 1:1179449-GA 1 1179449 [A/G] NM_001014980 C1QTNF12 EXON Missense_P139L exm1987 1 1179619 [A/C] NM_001014980 C1QTNF12 EXON Nonsense_E111X exm1989 1 1179637 [A/G] NM_001014980 C1QTNF12 EXON Missense_P105S exm1992 1 1179762 [A/G] NM_001014980 C1QTNF12 EXON Missense_P98L 1:1179763-GA 1 1179763 [A/G] NM_001014980 C1QTNF12 EXON Missense_P98S exm2001 1 1179816 [T/C] NM_001014980 C1QTNF12 EXON Missense_R80Q 1:1179822-AG 1 1179822 [A/G] NM_001014980 C1QTNF12 EXON Missense_F78S JHU_1.1182528 1 1182529 [C/G] JHU_1.1182904 1 1182905 [A/G] rs78446752 1 1183397 [T/C] 1:1183442-G-A 1 1183442 [A/G] rs113761150 1 1189552 [T/C] NM_194315,NM_058167,NM_194457,NM_194458 UBE2J2,UBE2J2,UBE2J2,UBE2J2 EXON Silent,Silent,Silent,Silent JHU_1.1190165 1 1190166 [A/G] NM_194315,NM_058167,NM_194457,NM_194458 UBE2J2,UBE2J2,UBE2J2,UBE2J2 EXON Silent,Silent,Silent,Silent rs1058161 1 1190523 [T/C] NM_194315,NM_058167,NM_194457,NM_194458 UBE2J2,UBE2J2,UBE2J2,UBE2J2 EXON Silent,Silent,Silent,Silent rs11804831 1 1194804 [T/C] NM_194315,NM_058167,NM_194457,NM_194458 UBE2J2,UBE2J2,UBE2J2,UBE2J2 Silent,Silent,Silent,Silent 1:1195038-T-C 1 1195038 [T/C] NM_194315,NM_058167,NM_194457,NM_194458 UBE2J2,UBE2J2,UBE2J2,UBE2J2 Silent,Silent,Silent,Silent 1:1195338-T-C 1 1195338 [T/C] NM_194315,NM_058167,NM_194457,NM_194458 UBE2J2,UBE2J2,UBE2J2,UBE2J2 Silent,Silent,Silent,Silent rs60397007 1 1195657 [A/G] NM_194315,NM_058167,NM_194457,NM_194458 UBE2J2,UBE2J2,UBE2J2,UBE2J2 Silent,Silent,Silent,Silent rs4018608 1 1203938 [T/C] NM_194315,NM_058167,NM_194457,NM_194458 UBE2J2,UBE2J2,UBE2J2,UBE2J2 Silent,Silent,Silent,Silent 1:1212749-A-G 1 1212749 [A/G] 1:1216667-GA 1 1216667 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_G23S,Silent 1:1216823-CA 1 1216823 [A/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_T37N,Silent 1:1216877-CT 1 1216877 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_A55V,Silent 1:1219363-CCA-C 1 1219363 [I/D] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON exm2063 1 1219401 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_P132L,Silent Variant37600 1 1219417 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_T137T,Silent exm2067 1 1219456 [G/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_G150G,Silent rs2144440 1 1220136 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D Silent,Silent 1:1220953-CT 1 1220953 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_S156L,Silent exm2070 1 1220954 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_S156S,Silent 1:1221001-AG 1 1221001 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_Q172R,Silent 1:1221408-CT 1 1221408 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R221W,Silent exm2081 1 1221459 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R238C,Silent 1:1221460-GA 1 1221460 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R238H,Silent chr1_1221488 1 1221489 [I/D] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON 1:1221560-TG 1 1221560 [T/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_F271L,Silent exm2093 1 1221564 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R273C,Silent 1:1221577-GA 1 1221577 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R277H,Silent 1:1221594-GA 1 1221594 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_V283I,Silent 1:1221655-GA 1 1221655 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R303H,Silent 1:1221658-GA 1 1221658 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R304Q,Silent 1:1221659-GA 1 1221659 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D Silent,Silent 1:1222149-CT 1 1222149 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_P305S,Silent exm2105 1 1222218 [T/A] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_N328Y,Silent exm2106 1 1222220 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_N328N,Silent 1:1222227-CT 1 1222227 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_L331F,Silent exm2110 1 1222267 [G/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R344P,Silent exm2113 1 1222279 [G/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_P348R,Silent 1:1222497-GCA-G 1 1222497 [I/D] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON 1:1222503-CT 1 1222503 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_G378G,Silent exm2129 1 1222519 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Nonsense_R384X,Silent exm2130 1 1222528 [A/T] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_T387S,Silent exm2131 1 1222529 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_T387M,Silent exm2135 1 1222596 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_P409P,Silent 1:1222618-GA 1 1222618 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_G417R,Silent 1:1222656-CT 1 1222656 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_Y429Y,Silent exm2140 1 1222657 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_D430N,Silent 1:1222679-GA 1 1222679 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R437Q,Silent exm2144 1 1222895 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R440W,Silent exm2166 1 1223122 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R490K,Silent exm2172 1 1223178 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_V509I,Silent exm2182 1 1223376 [G/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_V541L,Silent rs137911309 1 1225697 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_S570F,Silent JHU_1.1225823 1 1225824 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D Silent,Silent exm2206 1 1225899 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R608Q,Silent JHU_1.1225958 1 1225959 [C/G] NM_001130413,NR_037668 SCNN1D,SCNN1D Silent,Silent exm2214 1 1226031 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_K625R,Silent exm2217 1 1226063 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_A636T,Silent rs2273276 1 1226292 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Synonymous_T645T,Silent 1:1226311-CT 1 1226311 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_P652S,Silent exm2225 1 1226312 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_P652L,Silent rs586965 1 1226348 [C/G] NM_001130413,NR_037668 SCNN1D,SCNN1D Silent,Silent exm2232 1 1226462 [T/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_I665S,Silent exm2233 1 1226470 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_V668I,Silent 1:1226492-GA 1 1226492 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_R675H,Silent chr1_1226503 1 1226503 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_E679K,Silent exm2239 1 1226512 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_V682M,Silent 1:1226734-CT 1 1226734 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_S718F,Silent exm2259 1 1226797 [C/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_A739G,Silent exm2268 1 1226878 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_P766L,Silent exm2272 1 1226912 [A/G] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_M777I,Silent 1:1226971-TC 1 1226971 [T/C] NM_001130413,NR_037668 SCNN1D,SCNN1D EXON Missense_L797P,Silent rs3737721 1 1227897 [A/G] NM_030649 ACAP3 EXON Silent JHU_1.1227949 1 1227950 [T/C] NM_030649 ACAP3 EXON Silent rs72896218 1 1228326 [T/A] NM_030649 ACAP3 EXON Silent rs79565498 1 1228797 [A/G] NM_030649 ACAP3 EXON Silent 1:1228972-AG 1 1228972 [A/G] NM_030649 ACAP3 EXON Missense_F826S exm2290 1 1229225 [T/C] NM_030649 ACAP3 EXON Missense_A780T 1:1229506-GA 1 1229506 [A/G] NM_030649 ACAP3 EXON Missense_A738V 1:1229539-GA 1 1229539 [A/G] NM_030649 ACAP3 EXON Missense_A727V 1:1229844-CA 1 1229844 [A/C] NM_030649 ACAP3 EXON Nonsense_E693X 1:1229955-CA 1 1229955 [A/C] NM_030649 ACAP3 EXON Nonsense_E656X 1:1229959-CA 1 1229959 [A/C] NM_030649 ACAP3 EXON Missense_E654D 1:1229967-CT 1 1229967 [T/C] NM_030649 ACAP3 EXON Missense_D652N 1:1229970-CA 1 1229970 [A/C] NM_030649 ACAP3 EXON Missense_G651W 1:1229976-CA 1 1229976 [A/C] NM_030649 ACAP3 EXON Missense_A649S 1:1229982-CA 1 1229982 [A/C] NM_030649 ACAP3 EXON Missense_G647C 1:1230833-GT 1 1230833 [T/G] NM_030649 ACAP3 EXON Missense_P603T exm2326 1 1231185 [A/G] NM_030649 ACAP3 EXON Missense_R546C 1:1231203-GA 1 1231203 [A/G] NM_030649 ACAP3 EXON Missense_R540W exm2328 1 1231208 [T/C] NM_030649 ACAP3 EXON Missense_C538Y exm2330 1 1231245 [G/C] NM_030649 ACAP3 EXON Missense_A526P 1:1231259-GA 1 1231259 [A/G] NM_030649 ACAP3 EXON Missense_A521V exm2334 1 1231280 [A/T] NM_030649 ACAP3 EXON Missense_E514V 1:1231613-GT 1 1231613 [T/G] NM_030649 ACAP3 EXON Nonsense_S462X 1:1231622-GA 1 1231622 [A/G] NM_030649 ACAP3 EXON Missense_T459M 1:1231814-CT 1 1231814 [T/C] NM_030649 ACAP3 EXON Missense_G443D 1:1232004-GA 1 1232004 [A/G] NM_030649 ACAP3 EXON Missense_R380C exm2363 1 1233288 [C/G] NM_030649 ACAP3 EXON Missense_E348Q exm2370 1 1233490 [T/C] NM_030649 ACAP3 EXON Missense_A307T 1:1235116-GA 1 1235116 [A/G] NM_030649 ACAP3 Silent 1:1235200-CT 1 1235200 [T/C] NM_030649 ACAP3 Silent 1:1235249-GA 1 1235249 [A/G] NM_030649 ACAP3 EXON Missense_R234C 1:1238552-GA 1 1238552 [A/G] NM_030649 ACAP3 EXON Missense_T72I 1:1238574-AG 1 1238574 [A/G] NM_030649 ACAP3 EXON Missense_S65P exm2440 1 1238583 [A/G] NM_030649 ACAP3 EXON Missense_R62C JHU_1.1239076 1 1239077 [A/G] NM_030649 ACAP3 Silent rs12410087 1 1239935 [A/C] NM_030649 ACAP3 Silent rs139103600 1 1241913 [C/G] NM_030649 ACAP3 Silent 1:1243158-GA 1 1243158 [A/G] NM_030649 ACAP3 EXON Missense_P13L 1:1244312-GT 1 1244312 [T/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_R32M,Silent,Missense_R32M 1:1244541-GT 1 1244541 [T/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_A71S,Silent,Missense_A71S 1:1244596-TTCCCGCCCGAGG-T 1 1244596 [D/I] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON exm2230959 1 1244644 [T/C] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_P105L,Silent,Missense_P105L exm2468 1 1244646 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_A106T,Silent,Missense_A106T 1:1244652-AG 1 1244652 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_R108G,Silent,Missense_R108G 1:1244841-CT 1 1244841 [T/C] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_R111W,Silent,Missense_R111W 1:1244923-TGTCACC-T 1 1244923 [D/I] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON 1:1244956-GA 1 1244956 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_R149H,Silent,Missense_R149H 1:1245115-CA 1 1245115 [A/C] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_H176Q,Silent,Missense_H176Q 1:1245144-GT 1 1245144 [T/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_S186I,Silent,Missense_S186I newrs143765035 1 1246013 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 Silent,Silent,Silent exm2497 1 1246013 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 Silent,Silent,Silent exm1706581 1 1246018 [G/C] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_L217V,Silent,Missense_L217V exm2498 1 1246022 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_R218Q,Silent,Missense_R218Q variant.153 1 1246068 [T/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_Q233H,Silent,Missense_Q233H variant.154 1 1246069 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 Silent,Silent,Silent 1:1246291-TACG-T 1 1246291 [D/I] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON 1:1246311-TC 1 1246311 [T/C] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_L241P,Silent,Missense_L264P exm2510 1 1246319 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_V244M,Silent,Missense_V267M 1:1246415-GA 1 1246415 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_G276S,Silent,Missense_G299S 1:1246445-GA-G 1 1246445 [I/D] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON exm2520 1 1246450 [T/C] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Synonymous_L287L,Silent,Synonymous_L310L newrs140444081 1 1246451 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_G288S,Silent,Missense_G311S exm2524 1 1246749 [A/G] NM_153339,NR_144369,NM_001346116 PUSL1,PUSL1,PUSL1 EXON Missense_S301N,Silent,Missense_S324N exm2542 1 1247469 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_V556I,Missense_V455I,Missense_V527I,Missense_V458I,Missense_V562I 1:1247624-AG 1 1247624 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_V530A,Missense_V429A,Missense_V501A,Missense_V432A,Missense_V536A exm2249776 1 1247626 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_R529R,Synonymous_R428R,Synonymous_R500R,Synonymous_R431R,Synonymous_R535R 1:1247720-GA 1 1247720 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_A498V,Missense_A397V,Missense_A469V,Missense_A400V,Missense_A504V 1:1247729-GT 1 1247729 [T/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Nonsense_S495X,Nonsense_S394X,Nonsense_S466X,Nonsense_S397X,Nonsense_S501X exm2556 1 1247736 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_V493M,Missense_V392M,Missense_V464M,Missense_V395M,Missense_V499M exm2562 1 1247820 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_S488S,Synonymous_S387S,Synonymous_S459S,Synonymous_S390S,Synonymous_S494S exm2249777 1 1247826 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_K486K,Synonymous_K385K,Synonymous_K457K,Synonymous_K388K,Synonymous_K492K 1:1247829-CT 1 1247829 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_M485I,Missense_M384I,Missense_M456I,Missense_M387I,Missense_M491I 1:1247866-GA 1 1247866 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_A473V,Missense_A372V,Missense_A444V,Missense_A375V,Missense_A479V 1:1247978-GA 1 1247978 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_A466V,Missense_A365V,Missense_A437V,Missense_A368V,Missense_A472V 1:1247987-CT 1 1247987 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_R463Q,Missense_R362Q,Missense_R434Q,Missense_R365Q,Missense_R469Q exm2249779 1 1248046 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_T443T,Synonymous_T342T,Synonymous_T414T,Synonymous_T345T,Synonymous_T449T 1:1248060-CT 1 1248060 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_A439T,Missense_A338T,Missense_A410T,Missense_A341T,Missense_A445T 1:1248068-TC 1 1248068 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_Y436C,Missense_Y335C,Missense_Y407C,Missense_Y338C,Missense_Y442C exm2589 1 1248323 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_V380I,Missense_V279I,Missense_V351I,Missense_V282I,Missense_V386I exm2590 1 1248329 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_L378L,Synonymous_L277L,Synonymous_L349L,Synonymous_L280L,Synonymous_L384L indel.166 1 1249193 [D/I] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON 1:1249296-CT 1 1249296 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_R258H,Missense_R157H,Missense_R229H,Missense_R160H,Missense_R264H exm2624 1 1250209 [A/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_G233W,Missense_G132W,Missense_G204W,Missense_G135W,Missense_G239W rs2296473 1 1250228 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_H226H,Synonymous_H125H,Synonymous_H197H,Synonymous_H128H,Synonymous_H232H exm2230965 1 1250268 [G/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_S213C,Missense_S112C,Missense_S184C,Missense_S115C,Missense_S219C variant.168 1 1250794 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Nonsense_R185X,Nonsense_R84X,Nonsense_R156X,Nonsense_R87X,Nonsense_R191X indel.169 1 1250804 [I/D] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON JHU_1.1251231 1 1251232 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 Silent,Silent,Silent,Silent,Silent rs148575933 1 1251271 [T/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 Silent,Silent,Silent,Silent,Silent rs142978025 1 1251309 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 Silent,Silent,Silent,Silent,Silent 1:1254255-GA 1 1254255 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 Silent,Silent,Silent,Silent,Silent 1:1254599-TC 1 1254599 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 Silent,Silent,Silent,Silent,Silent exm2656 1 1254678 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Nonsense_Q143X,Silent,Nonsense_Q114X,Silent,Nonsense_Q149X exm2249782 1 1254694 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Synonymous_H137H,Silent,Synonymous_H108H,Silent,Synonymous_H143H exm2659 1 1254777 [T/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_I110V,Silent,Missense_I81V,Silent,Missense_I116V 1:1255859-GT 1 1255859 [T/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Missense_D59E,Silent,Missense_D30E,Silent,Missense_D65E exm2676 1 1256453 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Nonsense_R17X,Nonsense_R17X,Silent,Silent,Nonsense_R23X 1:1257296-GA 1 1257296 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 EXON Silent,Silent,Silent,Silent,Missense_A13V JHU_1.1257927 1 1257928 [A/G] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 Silent,Silent,Silent,Silent,Silent rs3845293 1 1258246 [A/C] NM_017871,NM_001256463,NM_001256460,NM_001256462,NM_001256456 INTS11,INTS11,INTS11,INTS11,INTS11 Silent,Silent,Silent,Silent,Silent 1:1260760-A-G 1 1260760 [A/G] NM_001029885 CPTP Silent exm2693 1 1262366 [A/G] NM_001029885 CPTP EXON Missense_E26K exm2695 1 1262635 [A/T] NM_001029885 CPTP EXON Missense_L46Q exm2697 1 1262695 [A/G] NM_001029885 CPTP EXON Missense_R66H exm1706776 1 1262701 [A/G] NM_001029885 CPTP EXON Missense_R68K exm2699 1 1262727 [A/C] NM_001029885 CPTP EXON Missense_R77S 1:1262785-GA 1 1262785 [A/G] NM_001029885 CPTP EXON Missense_R96H 1:1262827-GA 1 1262827 [A/G] NM_001029885 CPTP EXON Missense_R110H 1:1262832-CT 1 1262832 [T/C] NM_001029885 CPTP EXON Missense_H112Y exm2713 1 1262886 [A/G] NM_001029885 CPTP EXON Missense_E130K 1:1262892-GA 1 1262892 [A/G] NM_001029885 CPTP EXON Missense_A132T 1:1262895-CT 1 1262895 [T/C] NM_001029885 CPTP EXON Missense_R133C Variant37603 1 1262940 [A/G] NM_001029885 CPTP EXON Missense_A148T exm2723 1 1262958 [A/G] NM_001029885 CPTP EXON Missense_V154M 1:1262976-GA 1 1262976 [A/G] NM_001029885 CPTP EXON Missense_V160M exm2727 1 1262979 [A/G] NM_001029885 CPTP EXON Missense_A161T 1:1263084-CT 1 1263084 [T/C] NM_001029885 CPTP EXON Missense_R196C exm2732 1 1263085 [A/G] NM_001029885 CPTP EXON Missense_R196H rs307354 1 1264539 [C/G] 1:1266889-CA 1 1266889 [A/C] NM_152228 TAS1R3 EXON Missense_T55K 1:1266899-CA 1 1266899 [A/C] NM_152228 TAS1R3 EXON Missense_S58R 1:1266909-TC 1 1266909 [T/C] NM_152228 TAS1R3 EXON Missense_C62R exm2755 1 1267040 [T/G] NM_152228 TAS1R3 EXON Missense_W72G rs144594741 1 1267040 [T/G] NM_152228 TAS1R3 EXON Missense_W72G 1:1267064-GA 1 1267064 [A/G] NM_152228 TAS1R3 EXON Missense_V80M exm2762 1 1267106 [T/C] NM_152228 TAS1R3 EXON Missense_R94C 1:1267229-CT 1 1267229 [T/C] NM_152228 TAS1R3 EXON Nonsense_Q135X exm2774 1 1267253 [A/G] NM_152228 TAS1R3 EXON Missense_G143R exm2777 1 1267286 [A/G] NM_152228 TAS1R3 EXON Missense_G154S exm2778 1 1267291 [G/C] NM_152228 TAS1R3 EXON Missense_K155N JHU_1.1267290 1 1267291 [G/C] NM_152228 TAS1R3 EXON Missense_K155N ilmnseq_rs373399503.2_F2BT 1 1267441 [T/G] NM_152228 TAS1R3 EXON Missense_R177L 1:1267457-CCTT-C 1 1267457 [I/D] NM_152228 TAS1R3 EXON exm2791 1 1267539 [A/G] NM_152228 TAS1R3 EXON Missense_A210T 1:1267539-GA 1 1267539 [A/G] NM_152228 TAS1R3 EXON Missense_A210T exm2794 1 1267559 [C/G] NM_152228 TAS1R3 EXON Missense_D216E 1:1267806-GA 1 1267806 [A/G] NM_152228 TAS1R3 EXON Missense_A299T 1:1267852-GA 1 1267852 [A/G] NM_152228 TAS1R3 EXON Missense_G314D exm2821 1 1267870 [T/C] NM_152228 TAS1R3 EXON Missense_T320M exm2824 1 1267908 [A/G] NM_152228 TAS1R3 EXON Missense_E333K exm2829 1 1267953 [T/C] NM_152228 TAS1R3 EXON Missense_P348S 1:1267968-GA 1 1267968 [A/G] NM_152228 TAS1R3 EXON Missense_A353T exm2860 1 1268352 [T/C] NM_152228 TAS1R3 EXON Missense_R443W 1:1268361-AG 1 1268361 [A/G] NM_152228 TAS1R3 EXON Missense_S446G exm2861 1 1268362 [A/G] NM_152228 TAS1R3 EXON Missense_S446N exm2864 1 1268373 [A/G] NM_152228 TAS1R3 EXON Missense_V450M exm2866 1 1268388 [A/G] NM_152228 TAS1R3 EXON Missense_D455N exm2870 1 1268457 [A/C] NM_152228 TAS1R3 EXON Missense_L478I exm2873 1 1268470 [A/G] NM_152228 TAS1R3 EXON Missense_R482H 1:1268661-GA 1 1268661 [A/G] NM_152228 TAS1R3 EXON Missense_R501Q 1:1268681-GT 1 1268681 [T/G] NM_152228 TAS1R3 EXON Missense_V508L exm2881 1 1268687 [T/C] NM_152228 TAS1R3 EXON Missense_R510W exm2882 1 1268688 [A/G] NM_152228 TAS1R3 EXON Missense_R510Q exm2886 1 1268747 [T/C] NM_152228 TAS1R3 EXON Missense_R530W exm2889 1 1268894 [A/G] NM_152228 TAS1R3 EXON Missense_A537T exm2892 1 1268954 [T/C] NM_152228 TAS1R3 EXON Missense_R557C 1:1268957-AG 1 1268957 [A/G] NM_152228 TAS1R3 EXON Missense_R558G 1:1268985-CT 1 1268985 [T/C] NM_152228 TAS1R3 EXON Missense_P567L rs140035477 1 1269004 [T/C] NM_152228 TAS1R3 EXON Synonymous_L573L rs201675765 1 1269219 [T/C] NM_152228 TAS1R3 EXON Missense_T645M 1:1269288-GA 1 1269288 [A/G] NM_152228 TAS1R3 EXON Nonsense_W668X 1:1269396-CT 1 1269396 [T/C] NM_152228 TAS1R3 EXON Missense_P704L 1:1269453-GA 1 1269453 [A/G] NM_152228 TAS1R3 EXON Missense_R723H 1:1269459-GA 1 1269459 [A/G] NM_152228 TAS1R3 EXON Missense_R725H exm2941 1 1269488 [A/G] NM_152228 TAS1R3 EXON Missense_A735T 1:1269507-CA 1 1269507 [A/C] NM_152228 TAS1R3 EXON Missense_A741D 1:1269531-TC 1 1269531 [T/C] NM_152228 TAS1R3 EXON Missense_F749S chr1_1269542 1 1269542 [A/G] NM_152228 TAS1R3 EXON Missense_S753G exm2948 1 1269554 [T/C] NM_152228 TAS1R3 EXON Missense_C757R 1:1269613-TCTC-T 1 1269613 [D/I] NM_152228 TAS1R3 EXON 1:1269810-AG 1 1269810 [A/G] NM_152228 TAS1R3 EXON Missense_D842G chr1_1269825 1 1269825 [A/G] NM_152228 TAS1R3 EXON Missense_N847S rs150531289 1 1269859 [C/G] NM_152228 TAS1R3 EXON Silent rs139522421 1 1269888 [A/C] NM_152228 TAS1R3 EXON Silent rs186292265 1 1270987 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Silent,Silent 1:1271551-GT 1 1271551 [T/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_P687T,Missense_P662T 1:1271754-CT 1 1271754 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_R619H,Missense_R594H exm2984 1 1271808 [A/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_G601V,Missense_G576V 1:1271832-CT 1 1271832 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_R593Q,Missense_R568Q 1:1271872-GA 1 1271872 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_R580W,Missense_R555W exm2994 1 1273365 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_Q569R,Missense_Q544R ilmnseq_rs797044837 1 1273381 [I/D] NM_001330311,NM_004421 DVL1,DVL1 EXON ilmnseq_rs797044833 1 1273425 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_F549S,Missense_F524S ilmnseq_rs797044834 1 1273479 [I/D] NM_001330311,NM_004421 DVL1,DVL1 EXON seq-rs797044834 1 1273479 [I/D] NM_001330311,NM_004421 DVL1,DVL1 EXON seq-rs797044836 1 1273488 [D/I] NM_001330311,NM_004421 DVL1,DVL1 EXON exm3001 1 1273654 [G/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_C501S,Missense_C476S rs186806059 1 1273874 [T/C] NM_001330311,NM_004421 DVL1,DVL1 Silent,Silent 1:1273940-CT 1 1273940 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_R434H,Missense_R409H 1:1274748-GA 1 1274748 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_R376C,Missense_R376C 1:1274789-GA 1 1274789 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_A362V,Missense_A362V 1:1275159-CA 1 1275159 [A/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_D315Y,Missense_D315Y 1:1275639-TC 1 1275639 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_T253A,Missense_T253A exm3055 1 1275659 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_S246F,Missense_S246F exm3069 1 1275797 [G/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_A231G,Missense_A231G 1:1275801-GT 1 1275801 [T/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_Q230K,Missense_Q230K exm3070 1 1275804 [G/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_R229G,Missense_R229G exm3075 1 1275882 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_L203F,Missense_L203F JHU_1.1276076 1 1276077 [A/G] NM_001330311,NM_004421 DVL1,DVL1 Silent,Silent rs149642227 1 1276648 [A/G] NM_001330311,NM_004421 DVL1,DVL1 Silent,Silent exm1707125 1 1277184 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Synonymous_A156A,Synonymous_A156A 1:1277442-GA 1 1277442 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_R153C,Missense_R153C exm3101 1 1277466 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_R145W,Missense_R145W 1:1277489-GT 1 1277489 [T/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_T137K,Missense_T137K 1:1277526-CT 1 1277526 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_A125T,Missense_A125T 1:1277768-CT 1 1277768 [T/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_G113R,Missense_G113R 1:1277804-CA 1 1277804 [A/C] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_D101Y,Missense_D101Y rs145496306 1 1277833 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_A91V,Missense_A91V exm3111 1 1277833 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_A91V,Missense_A91V 1:1284354-GA 1 1284354 [A/G] NM_001330311,NM_004421 DVL1,DVL1 EXON Missense_A31V,Missense_A31V 1:1288990-GT 1 1288990 [T/G] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Nonsense_C441X,Nonsense_C340X,Silent,Nonsense_C432X,Nonsense_C441X 1:1288996-TCTC-T 1 1288996 [D/I] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON 1:1289010-CA 1 1289010 [A/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 Silent,Silent,Silent,Silent,Silent 1:1289293-AG 1 1289293 [A/G] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_I413T,Missense_I312T,Missense_I419T,Missense_I404T,Missense_I413T 1:1289438-CT 1 1289438 [T/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_M398I,Missense_M297I,Missense_M398I,Missense_M389I,Missense_M398I exm3147 1 1289446 [T/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_D396N,Missense_D295N,Missense_D396N,Missense_D387N,Missense_D396N 1:1289818-GT 1 1289818 [T/G] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_Q341K,Missense_Q240K,Missense_Q341K,Missense_Q332K,Missense_Q341K exm3157 1 1289835 [T/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_R335Q,Missense_R234Q,Missense_R335Q,Missense_R326Q,Missense_R335Q 1:1289848-CA 1 1289848 [A/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_V331F,Missense_V230F,Missense_V331F,Missense_V322F,Missense_V331F exm3158 1 1289863 [A/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_V326F,Missense_V225F,Missense_V326F,Missense_V317F,Missense_V326F 1:1290301-AG 1 1290301 [A/G] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_L237P,Missense_L136P,Missense_L237P,Missense_L228P,Missense_L237P 1:1290662-TC 1 1290662 [T/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_Y147C,Missense_Y46C,Missense_Y147C,Missense_Y138C,Missense_Y147C 1:1290866-CT 1 1290866 [T/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_A114T,Silent,Missense_A114T,Missense_A105T,Missense_A114T 1:1290874-GT 1 1290874 [T/G] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Nonsense_S111X,Silent,Nonsense_S111X,Nonsense_S102X,Nonsense_S111X 1:1293847-AG 1 1293847 [A/G] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_V13A,Missense_V13A,Missense_V13A,Silent,Missense_V13A 1:1293868-CT 1 1293868 [T/C] NM_032348,NM_001282584,NM_001282585,NM_001282583,NM_001282582 MXRA8,MXRA8,MXRA8,MXRA8,MXRA8 EXON Missense_R6Q,Missense_R6Q,Missense_R6Q,Silent,Missense_R6Q 1:1295403-T-C 1 1295403 [T/C] NM_001282583,NM_001282582 MXRA8,MXRA8 Silent,Silent JHU_1.1295681 1 1295682 [A/G] NM_001282583,NM_001282582 MXRA8,MXRA8 Silent,Silent JHU_1.1296370 1 1296371 [G/C] NM_001282583,NM_001282582 MXRA8,MXRA8 Silent,Silent JHU_1.1296403 1 1296404 [A/G] NM_001282583,NM_001282582 MXRA8,MXRA8 Silent,Silent 1:1296630-GA 1 1296630 [A/G] NM_001282583,NM_001282582 MXRA8,MXRA8 EXON Missense_A5V,Silent JHU_1.1301671 1 1301672 [T/G] JHU_1.1302207 1 1302208 [A/G] JHU_1.1302994 1 1302995 [A/G] rs17160669 1 1305561 [T/C] JHU_1.1306763 1 1306764 [A/G] JHU_1.1308518 1 1308519 [T/C] JHU_1.1308870 1 1308871 [T/A] exm3203 1 1309185 [T/C] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_K199R,Missense_K199R,Missense_K199R exm3205 1 1309203 [T/C] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_K193R,Missense_K193R,Missense_K193R exm3211 1 1309405 [T/C] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_Q158R,Missense_Q158R,Missense_Q158R 1:1309490-CT 1 1309490 [T/C] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_V130M,Missense_V130M,Missense_V130M exm1707755 1 1309567 [A/G] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_P104L,Missense_P104L,Missense_P104L exm3225 1 1309583 [A/G] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Nonsense_Q99X,Nonsense_Q99X,Nonsense_Q99X 1:1309604-CT 1 1309604 [T/C] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_A92T,Missense_A92T,Missense_A92T 1:1309707-CA 1 1309707 [A/C] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_Q57H,Missense_Q57H,Missense_Q57H 1:1309808-GA 1 1309808 [A/G] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 EXON Missense_P24S,Missense_P24S,Missense_P24S rs11548463 1 1309942 [T/C] NM_017900,NM_001127229,NM_001127230 AURKAIP1,AURKAIP1,AURKAIP1 Silent,Silent,Silent JHU_1.1311541 1 1311542 [G/C] rs2260423 1 1314707 [A/G] 1:1315807-A-G 1 1315807 [A/G] rs34429643 1 1316247 [A/G] JHU_1.1318264 1 1318265 [A/G] JHU_1.1318272 1 1318273 [A/G] exm3246 1 1322667 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_R372C,Missense_R281C,Missense_R281C,Silent,Missense_R281C,Missense_R372C,Silent,Silent,Missense_R503C,Missense_R281C indel.203 1 1322718 [D/I] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON exm3250 1 1322735 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_P349L,Missense_P258L,Missense_P258L,Silent,Missense_P258L,Missense_P349L,Silent,Silent,Missense_P480L,Missense_P258L exm1707956 1 1322736 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_P349S,Missense_P258S,Missense_P258S,Silent,Missense_P258S,Missense_P349S,Silent,Silent,Missense_P480S,Missense_P258S exm3253 1 1322744 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_A346V,Missense_A255V,Missense_A255V,Silent,Missense_A255V,Missense_A346V,Silent,Silent,Missense_A477V,Missense_A255V exm3254 1 1322753 [T/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_R343Q,Missense_R252Q,Missense_R252Q,Silent,Missense_R252Q,Missense_R343Q,Silent,Silent,Missense_R474Q,Missense_R252Q exm3255 1 1322754 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_R343W,Missense_R252W,Missense_R252W,Silent,Missense_R252W,Missense_R343W,Silent,Silent,Missense_R474W,Missense_R252W exm3257 1 1322765 [T/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_R339Q,Missense_R248Q,Missense_R248Q,Silent,Missense_R248Q,Missense_R339Q,Silent,Silent,Missense_R470Q,Missense_R248Q exm3261 1 1322868 [T/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_A305T,Missense_A214T,Missense_A214T,Silent,Missense_A214T,Missense_A305T,Silent,Silent,Missense_A436T,Missense_A214T 1KG_1_1323216 1 1323216 [I/D] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON 1:1323217-GCTCCGA-G 1 1323217 [I/D] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON 1:1325687-GA 1 1325687 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_A179V,Missense_A88V,Missense_A88V,Silent,Missense_A88V,Missense_A179V,Silent,Silent,Missense_A310V,Missense_A88V 1:1325846-CT 1 1325846 [T/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Missense_R155Q,Missense_R64Q,Missense_R64Q,Silent,Missense_R64Q,Missense_R155Q,Silent,Silent,Missense_R286Q,Missense_R64Q exm3299 1 1330832 [A/G] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498,NM_001039577 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A179V,Silent,Missense_A179V 1:1330887-CT 1 1330887 [T/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498,NM_001039577 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V161M,Silent,Missense_V161M exm3307 1 1333713 [T/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350497,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498,NM_001039577 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_M125V,Silent,Missense_M125V Variant12295 1 1334053 [D/I] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498,NM_001039577 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 exm3320 1 1334519 [G/C] NM_001350499,NM_001320153,NM_001320155,NR_135154,NM_001350500,NR_146723,NR_146722,NM_030937,NM_001350498,NM_001039577 CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2,CCNL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D56E,Silent,Missense_D56E rs1240707 1 1335302 [T/C] NR_015434 LOC148413 Silent 1:1335598-GT 1 1335598 [T/G] NR_015434 LOC148413 EXON Silent 1:1335630-GA 1 1335630 [A/G] NR_015434 LOC148413 EXON Silent rs1240708 1 1335790 [A/G] NR_015434 LOC148413 Silent 1:1336028-GA 1 1336028 [A/G] NR_015434 LOC148413 EXON Silent 1:1336098-GA 1 1336098 [A/G] NR_015434 LOC148413 EXON Silent exm3329 1 1337481 [T/G] NM_017971,NM_001318485 MRPL20,MRPL20 EXON Missense_R144S,Silent exm3332 1 1337539 [T/A] NM_017971,NM_001318485 MRPL20,MRPL20 EXON Missense_H125L,Silent variant.210 1 1341171 [T/C] NM_017971,NM_001318485 MRPL20,MRPL20 Silent,Silent 1:1341185-AG 1 1341185 [A/G] NM_017971,NM_001318485 MRPL20,MRPL20 Silent,Silent exm3336 1 1341206 [T/C] NM_017971,NM_001318485 MRPL20,MRPL20 EXON Missense_I87V,Missense_I87V 1:1342362-GA 1 1342362 [A/G] NM_017971,NM_001318485 MRPL20,MRPL20 EXON Missense_A42V,Missense_A42V 1:1342572-CA 1 1342572 [A/C] NM_017971,NM_001318485 MRPL20,MRPL20 EXON Missense_W9L,Missense_W9L JHU_1.1343393 1 1343394 [A/C] 1:1354630-GA 1 1354630 [A/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Synonymous_T350T,Missense_P170L,Silent 1:1354685-CT 1 1354685 [T/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_G332D,Missense_A152T,Silent 1:1354687-GA 1 1354687 [A/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Synonymous_T331T,Missense_P151L,Silent 1:1354725-CT 1 1354725 [T/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_G319S,Synonymous_P138P,Silent 1:1354749-GA 1 1354749 [A/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_R311W,Synonymous_L130L,Silent 1:1354761-GT 1 1354761 [T/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_H307N,Nonsense_C126X,Silent 1:1354767-GT 1 1354767 [T/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_P305T,Missense_H124Q,Silent 1:1354787-CT 1 1354787 [T/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_R298Q,Missense_G118R,Silent 1:1354808-TC 1 1354808 [T/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_Q291R,Missense_R111G,Silent Variant37608 1 1354816 [T/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Synonymous_L288L,Nonsense_W108X,Silent exm3367 1 1354844 [T/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_R279Q,Missense_E99K,Silent 1:1354854-CT 1 1354854 [T/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_A276T,Synonymous_G95G,Silent exm3369 1 1354920 [A/C] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_V254L,Missense_R73S,Silent exm3377 1 1356330 [C/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_R19P,Missense_R19P,Missense_R19P 1:1356331-GA 1 1356331 [A/G] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON Missense_R19W,Missense_R19W,Missense_R19W 1:1356342-TTCC-T 1 1356342 [D/I] NM_001145210,NM_001243535,NM_001243536 ANKRD65,ANKRD65,ANKRD65 EXON rs138985554 1 1361130 [T/C] 1:1361733-GA 1 1361733 [A/G] NM_001146685 TMEM88B EXON Missense_V76I exm3388 1 1361736 [A/G] NM_001146685 TMEM88B EXON Missense_V77I rs141177577 1 1362287 [A/G] NM_001146685 TMEM88B Silent JHU_1.1362408 1 1362409 [A/G] NM_001146685 TMEM88B Silent JHU_1.1362547 1 1362548 [A/G] NM_001146685 TMEM88B Silent JHU_1.1363806 1 1363807 [C/G] JHU_1.1363921 1 1363922 [A/G] JHU_1.1363980 1 1363981 [A/G] JHU_1.1364029 1 1364030 [T/C] JHU_1.1365244 1 1365245 [T/C] rs143000156 1 1365759 [A/G] NR_125996,NR_125995,NR_125994 LINC01770,LINC01770,LINC01770 EXON Silent,Silent,Silent rs873927 1 1366830 [A/G] NR_125996,NR_125995,NR_125994 LINC01770,LINC01770,LINC01770 Silent,Silent,Silent JHU_1.1371458 1 1371459 [A/G] NM_022834,NM_199121 VWA1,VWA1 Silent,Silent 1:1372669-GA 1 1372669 [A/G] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_G146S,Silent exm3418 1 1372690 [T/C] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_P153S,Silent 1:1372719-CT 1 1372719 [T/C] NM_022834,NM_199121 VWA1,VWA1 EXON Synonymous_G162G,Missense_R31C exm3425 1 1372743 [T/C] NM_022834,NM_199121 VWA1,VWA1 EXON Synonymous_T170T,Missense_R39W exm3426 1 1372750 [A/G] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_G173S,Missense_R41K chr1_1372792 1 1372792 [A/G] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_E187K,Missense_R55Q 1:1372815-CT 1 1372815 [T/C] NM_022834,NM_199121 VWA1,VWA1 EXON Synonymous_D194D,Missense_R63C 1:1372838-TC 1 1372838 [T/C] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_V202A,Silent JHU_1.1373372 1 1373373 [A/G] NM_022834,NM_199121 VWA1,VWA1 Silent,Silent JHU_1.1373481 1 1373482 [C/G] NM_022834,NM_199121 VWA1,VWA1 Silent,Silent JHU_1.1373566 1 1373567 [A/C] NM_022834,NM_199121 VWA1,VWA1 Silent,Silent 1:1374469-CT 1 1374469 [T/C] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_R214W,Silent 1:1374673-GT 1 1374673 [T/G] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_A282S,Silent 1:1374722-GT 1 1374722 [T/G] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_R298L,Silent rs4590 1 1375810 [C/G] NM_022834,NM_199121 VWA1,VWA1 EXON Silent,Silent JHU_1.1377130 1 1377131 [A/G] NM_022834,NM_199121 VWA1,VWA1 EXON Silent,Silent rs78727284 1 1377535 [A/G] NM_022834,NM_199121 VWA1,VWA1 EXON Silent,Silent JHU_1.1377996 1 1377997 [G/C] NM_022834,NM_199121 VWA1,VWA1 EXON Silent,Silent rs138691810 1 1379632 [A/G] JHU_1.1384090 1 1384091 [T/C] JHU_1.1386088 1 1386089 [T/C] NM_001039211 ATAD3C EXON Missense_A9V exm3458 1 1386089 [T/C] NM_001039211 ATAD3C EXON Missense_A9V 1:1387465-GA 1 1387465 [A/G] NM_001039211 ATAD3C EXON Missense_V39M exm3468 1 1387747 [T/C] NM_001039211 ATAD3C EXON Missense_A52V rs1627833 1 1388268 [A/C] NM_001039211 ATAD3C Silent exm1709164 1 1391192 [T/C] NM_001039211 ATAD3C EXON Missense_R154C rs1751469 1 1394384 [T/C] NM_001039211 ATAD3C Silent JHU_1.1395228 1 1395229 [C/G] NM_001039211 ATAD3C Silent exm3507 1 1396132 [T/G] NM_001039211 ATAD3C EXON Missense_F272C exm3511 1 1396197 [A/G] NM_001039211 ATAD3C EXON Missense_V294M 1:1396240-GA 1 1396240 [A/G] NM_001039211 ATAD3C EXON Missense_R308H exm3518 1 1396296 [T/C] NM_001039211 ATAD3C EXON Missense_R327W exm3521 1 1398008 [A/G] NM_001039211 ATAD3C EXON Missense_G337R exm3522 1 1398032 [C/G] NM_001039211 ATAD3C EXON Missense_R345G 1:1398065-GA 1 1398065 [A/G] NM_001039211 ATAD3C EXON Missense_A356T rs111938039 1 1400170 [A/G] NM_001039211 ATAD3C Silent 1:1403794-CA 1 1403794 [A/C] NM_001039211 ATAD3C EXON Missense_L374M exm3533 1 1403800 [A/G] NM_001039211 ATAD3C EXON Missense_E376K exm1709263 1 1403821 [A/G] NM_001039211 ATAD3C EXON Missense_V383M 1:1403858-GA 1 1403858 [A/G] NM_001039211 ATAD3C EXON Missense_R395H JHU_1.1406873 1 1406874 [A/G] rs149545799 1 1410222 [C/G] NM_031921 ATAD3B Silent rs142091631 1 1411144 [A/G] NM_031921 ATAD3B Silent rs146343349 1 1412659 [T/G] NM_031921 ATAD3B EXON Missense_A71S exm3556 1 1412659 [T/G] NM_031921 ATAD3B EXON Missense_A71S 1:1477940_1477941ins 1 1413320 [I/D] NM_031921 ATAD3B rs150450339 1 1413811 [T/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Silent,Silent 1:1413884-AG 1 1413884 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Silent,Missense_Q2R JHU_1.1415542 1 1415543 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B Silent,Silent rs141143061 1 1417927 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_T228M,Missense_T182M JHU_1.1420076 1 1420077 [T/A] NM_031921,NM_001317238 ATAD3B,ATAD3B Silent,Silent exm3630 1 1421538 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_T338A,Missense_T292A exm3652 1 1423256 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_M410V,Missense_M364V exm2249844 1 1425658 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Synonymous_S453S,Synonymous_S407S 1:1425696-GA 1 1425696 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_R466H,Missense_R420H rs819980 1 1425700 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Synonymous_I467I,Synonymous_I421I exm2275409 1 1425719 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_D474N,Missense_D428N exm3680 1 1425753 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_V485A,Missense_V439A rs145313947 1 1425753 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_V485A,Missense_V439A 1:1430886-GA 1 1430886 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_D546N,Missense_D500N 1:1430943-TC 1 1430943 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_Y565H,Missense_Y519H exm3706 1 1430968 [A/T] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_K573M,Missense_K527M exm3707 1 1430971 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_A574V,Missense_A528V exm3716 1 1431048 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_T600A,Missense_T554A 1:1431053-AC-A 1 1431053 [D/I] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON exm3718 1 1431060 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_Y604H,Missense_Y558H exm3719 1 1431066 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_C606R,Missense_C560R exm3724 1 1431109 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_G620E,Missense_G574E exm3726 1 1431159 [A/G] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_G637S,Missense_G591S Variant6 1 1431172 [D/I] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON 1:1431174-CT 1 1431174 [T/C] NM_031921,NM_001317238 ATAD3B,ATAD3B EXON Missense_P642S,Missense_P596S JHU_1.1431701 1 1431702 [A/G] rs111509968 1 1446390 [T/G] JHU_1.1447122 1 1447123 [G/C] rs6690515 1 1447325 [A/G] rs72468212 1 1447550 [T/A] NM_001170535,NM_018188 ATAD3A,ATAD3A EXON Silent,Silent rs139049688 1 1449501 [A/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent rs6669795 1 1450947 [A/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent exm3743 1 1451415 [C/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_L77V,Missense_L77V,Silent rs150044581 1 1452428 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent rs7531221 1 1453373 [A/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent JHU_1.1454072 1 1454073 [A/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent 1:1458915-CT 1 1458915 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_P311S,Missense_P359S,Missense_P232S rs3737714 1 1458954 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent JHU_1.1460415 1 1460416 [T/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent 1:1460633-GA 1 1460633 [A/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_V410M,Missense_V458M,Missense_V331M exm3851 1 1460671 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Synonymous_T422T,Synonymous_T470T,Synonymous_T343T JHU_1.1463030 1 1463031 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent exm3862 1 1463119 [T/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_W461L,Missense_W509L,Missense_W382L 1:1463134-GA 1 1463134 [A/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_R466H,Missense_R514H,Missense_R387H exm3863 1 1463157 [G/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_D474H,Missense_D522H,Missense_D395H 1:1463224-CT 1 1463224 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_P496L,Missense_P544L,Missense_P417L rs200101143 1 1464604 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_R503C,Missense_R551C,Missense_R424C rs12032637 1 1465382 [A/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent JHU_1.1467321 1 1467322 [T/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent exm2231095 1 1469372 [T/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_A561S,Missense_A609S,Missense_A482S exm3879 1 1469384 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_H565Y,Missense_H613Y,Missense_H486Y 1:1469423-GA 1 1469423 [A/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_G578R,Missense_G626R,Missense_G499R 1:1469426-CT 1 1469426 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_R579C,Missense_R627C,Missense_R500C 1:1469439-CA 1 1469439 [A/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_P583H,Missense_P631H,Missense_P504H 1:1469441-TC 1 1469441 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_S584P,Missense_S632P,Missense_S505P 1:1469444-CT 1 1469444 [T/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A EXON Missense_P585S,Missense_P633S,Missense_P506S IlmnSeq_rs606231451 1 1470752 [A/G] NM_001114748 TMEM240 EXON Missense_P170L JHU_1.1470891 1 1470892 [A/G] NM_001114748 TMEM240 Silent 1:1471014-CT 1 1471014 [T/C] NM_001114748 TMEM240 EXON Missense_V110I exm3908 1 1471017 [T/C] NM_001114748 TMEM240 EXON Missense_G109S rs187039783 1 1471017 [T/C] NM_001114748 TMEM240 EXON Missense_G109S rs1571149 1 1474167 [A/G] NM_001114748 TMEM240 Silent 1:1475684-CA 1 1475684 [A/C] NM_001114748 TMEM240 EXON Missense_A15S 1:1477493-CA 1 1477493 [A/C] NM_014188 SSU72 EXON Nonsense_E180X exm3923 1 1477537 [A/G] NM_014188 SSU72 EXON Missense_T165M 1:1479340-CT 1 1479340 [T/C] NM_014188 SSU72 EXON Missense_C131Y JHU_1.1483951 1 1483952 [A/C] NM_014188 SSU72 Silent rs2031709 1 1485984 [A/C] NM_014188 SSU72 Silent rs7531530 1 1489670 [T/C] NM_014188 SSU72 Silent rs78064294 1 1490548 [A/G] NM_014188 SSU72 Silent 1:1492441-A-G 1 1492441 [A/G] NM_014188 SSU72 Silent 1:1499944-GA 1 1499944 [A/G] NM_014188 SSU72 Silent rs184581030 1 1502873 [A/G] NM_014188 SSU72 Silent rs12118054 1 1505038 [A/G] NM_014188 SSU72 Silent rs6603792 1 1505041 [T/C] NM_014188 SSU72 Silent rs118064867 1 1506118 [G/C] NM_014188 SSU72 Silent chr1_1510367 1 1510367 [A/C] 1:1510405-CT 1 1510405 [T/C] Variant12296 1 1510551 [D/I] JHU_1.1512884 1 1512885 [T/C] JHU_1.1517803 1 1517804 [A/G] JHU_1.1518245 1 1518246 [A/G] JHU_1.1518248 1 1518249 [T/C] JHU_1.1518392 1 1518393 [A/G] JHU_1.1518868 1 1518869 [G/C] JHU_1.1518970 1 1518971 [T/G] rs28380252 1 1521371 [A/G] rs6604983 1 1521595 [A/G] rs4648786 1 1521805 [A/G] JHU_1.1529656 1 1529657 [T/G] JHU_1.1533144 1 1533145 [T/C] rs117780949 1 1533723 [T/G] NM_001242659 FNDC10 EXON Silent 1:1535002-CT 1 1535002 [T/C] NM_001242659,NR_147951 FNDC10,LOC105378586 EXON Missense_D132N,Silent rs77786149 1 1539649 [T/G] NR_147951 LOC105378586 Silent JHU_1.1539991 1 1539992 [T/C] NR_147951 LOC105378586 Silent 1:1605516_1605517ins 1 1540896 [D/I] NR_147951 LOC105378586 rs72897856 1 1542204 [A/G] NR_147951 LOC105378586 Silent JHU_1.1542720 1 1542721 [A/C] rs28703654 1 1543311 [A/G] rs74223871 1 1545244 [A/G] JHU_1.1546708 1 1546709 [A/G] 1:1550873-GA 1 1550873 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688 MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_G12S,Missense_G12S,Silent,Missense_G12S,Missense_G12S exm3962 1 1551927 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NR_146324,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_F72L,Missense_F72L,Silent,Missense_F72L,Missense_F72L,Silent,Silent exm3966 1 1551952 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NR_146324,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R80K,Missense_R80K,Silent,Missense_R80K,Missense_R80K,Silent,Silent rs28502067 1 1552097 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NR_146324,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79836664 1 1552870 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 Silent,Silent,Silent,Silent,Silent,Silent rs74465618 1 1553253 [T/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 Silent,Silent,Silent,Silent,Silent,Silent rs12725787 1 1555396 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1555395 1 1555396 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1557892 1 1557893 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 Silent,Silent,Silent,Silent,Silent,Silent exm3970 1 1558782 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R99W,Missense_R99W,Silent,Silent,Missense_R99W,Silent exm3973 1 1558792 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_M102T,Missense_M102T,Silent,Silent,Missense_M102T,Silent JHU_1.1558791 1 1558792 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_M102T,Missense_M102T,Silent,Silent,Missense_M102T,Silent 1:1559013-CT 1 1559013 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R176C,Missense_R176C,Silent,Missense_R162C,Missense_R176C,Missense_R61C 1:1559156-GA 1 1559156 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_V199I,Missense_V199I,Silent,Missense_V185I,Missense_V199I,Missense_V84I 1:1559205-GA 1 1559205 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R215Q,Missense_R215Q,Silent,Missense_R201Q,Missense_R215Q,Missense_R100Q JHU_1.1559226 1 1559227 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Synonymous_R222R,Synonymous_R222R,Silent,Synonymous_R208R,Synonymous_R222R,Synonymous_R107R 1:1559285-GA 1 1559285 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A242T,Missense_A242T,Silent,Missense_A228T,Missense_A242T,Missense_A127T exm4002 1 1559297 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_D246N,Missense_D246N,Silent,Missense_D232N,Missense_D246N,Missense_D131N rs72897886 1 1559585 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 Silent,Silent,Silent,Silent,Silent,Silent rs28635343 1 1560103 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1560225 1 1560226 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Synonymous_I272I,Synonymous_I272I,Silent,Synonymous_I258I,Synonymous_I272I,Synonymous_I157I 1:1560249-GA 1 1560249 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R280Q,Missense_R280Q,Silent,Missense_R266Q,Missense_R280Q,Missense_R165Q 1:1560675-CT 1 1560675 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A359V,Missense_A359V,Silent,Missense_A345V,Missense_A294V,Missense_A179V 1:1560722-GT 1 1560722 [T/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_G375W,Missense_G375W,Silent,Missense_G361W,Missense_G310W,Missense_G195W 1:1560769-GT 1 1560769 [T/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_M390I,Missense_M390I,Silent,Missense_M376I,Missense_M325I,Missense_M210I 1:1560954-GA 1 1560954 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R409H,Missense_R413H,Silent,Missense_R399H,Missense_R348H,Missense_R233H exm4035 1 1560966 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R413H,Missense_R417H,Silent,Missense_R403H,Missense_R352H,Missense_R237H 1:1561017-CA 1 1561017 [A/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_P430H,Missense_P434H,Silent,Missense_P420H,Missense_P369H,Missense_P254H 1:1561023-CA 1 1561023 [A/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A432E,Missense_A436E,Silent,Missense_A422E,Missense_A371E,Missense_A256E JHU_1.1561520 1 1561521 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 Silent,Silent,Silent,Silent,Silent,Silent exm4046 1 1562091 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R456Q,Missense_R460Q,Silent,Missense_R446Q,Missense_R395Q,Missense_R280Q 1:1562368-GA 1 1562368 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R521Q,Missense_R525Q,Silent,Missense_R511Q,Missense_R460Q,Missense_R345Q 1:1562465-GA 1 1562465 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_V529M,Missense_V533M,Silent,Missense_V519M,Missense_V468M,Missense_V353M 1:1562546-GA 1 1562546 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A556T,Missense_A560T,Silent,Missense_A546T,Missense_A495T,Missense_A380T 1:1562553-GA 1 1562553 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R558Q,Missense_R562Q,Silent,Missense_R548Q,Missense_R497Q,Missense_R382Q exm4067 1 1562576 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R566C,Missense_R570C,Silent,Missense_R556C,Missense_R505C,Missense_R390C 1:1562712-GT 1 1562712 [T/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_V582L,Missense_V586L,Silent,Missense_V572L,Missense_V521L,Missense_V406L 1:1562782-CT 1 1562782 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_P605L,Missense_P609L,Silent,Missense_P595L,Missense_P544L,Missense_P429L exm2250001 1 1562786 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Synonymous_D606D,Synonymous_D610D,Silent,Synonymous_D596D,Synonymous_D545D,Synonymous_D430D exm4090 1 1563109 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_I638T,Missense_I642T,Silent,Missense_I628T,Missense_I577T,Missense_I462T 1:1563115-GA 1 1563115 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_S640N,Missense_S644N,Silent,Missense_S630N,Missense_S579N,Missense_S464N exm4091 1 1563121 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_Q642R,Missense_Q646R,Silent,Missense_Q632R,Missense_Q581R,Missense_Q466R 1:1563198-GA 1 1563198 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_V668I,Missense_V672I,Silent,Missense_V658I,Missense_V607I,Missense_V492I exm4107 1 1563492 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_D703N,Missense_D707N,Silent,Missense_D693N,Missense_D642N,Missense_D527N 1:1563526-TC 1 1563526 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_L714P,Missense_L718P,Silent,Missense_L704P,Missense_L653P,Missense_L538P 1:1563556-CT 1 1563556 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A724V,Missense_A728V,Silent,Missense_A714V,Missense_A663V,Missense_A548V exm4117 1 1563691 [T/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_V738G,Missense_V742G,Silent,Missense_V728G,Missense_V677G,Missense_V562G exm4119 1 1563707 [C/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_E743D,Missense_E747D,Silent,Missense_E733D,Missense_E682D,Missense_E567D 1:1563717-AG 1 1563717 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_T747A,Missense_T751A,Silent,Missense_T737A,Missense_T686A,Missense_T571A 1:1563986-GA 1 1563986 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_A807T,Missense_A811T,Silent,Missense_A797T,Missense_A746T,Missense_A631T 1:1563989-GA 1 1563989 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_E808K,Missense_E812K,Silent,Missense_E798K,Missense_E747K,Missense_E632K 1:1564651-CA 1 1564651 [A/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R892S,Missense_R896S,Silent,Missense_R882S,Missense_R831S,Missense_R716S 1:1565023-CT 1 1565023 [T/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Synonymous_C967C,Synonymous_C971C,Silent,Synonymous_C957C,Synonymous_C906C,Missense_R731C 1:1565071-GA 1 1565071 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Synonymous_K983K,Synonymous_K987K,Silent,Synonymous_K973K,Synonymous_K922K,Missense_E747K 1:1565779-CATCTGCATCGA-C 1 1565779 [I/D] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON 1:1565789-AC 1 1565789 [A/C] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_D1027A,Missense_D1031A,Silent,Missense_D1017A,Missense_D966A,Silent exm4171 1 1565891 [A/G] NM_001170686,NM_080875,NR_033183,NM_001170687,NM_001170688,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Missense_R1061H,Missense_R1065H,Silent,Missense_R1051H,Missense_R1000H,Silent JHU_1.1567170 1 1567171 [C/G] 1:1572151-TC 1 1572151 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B EXON Missense_T615A,Missense_T568A,Missense_T348A,Missense_T592A,Missense_T602A,Missense_T387A exm2250017 1 1572310 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B EXON Synonymous_P594P,Synonymous_P547P,Synonymous_P327P,Synonymous_P571P,Synonymous_P581P,Synonymous_P366P 1:1572453-CT 1 1572453 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B EXON Missense_G572D,Missense_G525D,Missense_G305D,Missense_G549D,Missense_G559D,Missense_G344D JHU_1.1581886 1 1581887 [A/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1582105 1 1582106 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1582608 1 1582609 [T/A] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B Silent,Silent,Silent,Silent,Silent,Silent rs28525262 1 1584102 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B Silent,Silent,Silent,Silent,Silent,Silent 1:1592006-A-G 1 1592006 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B Silent,Silent,Silent,Silent,Silent,Silent rs72634820 1 1597020 [G/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm4276 1 1597351 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G363E,Missense_G363E JHU_1.1597355 1 1597356 [C/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_T361T,Synonymous_T361T exm4281 1 1597403 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G346S,Missense_G346S 1:1597431-CA 1 1597431 [A/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L336F,Missense_L336F JHU_1.1597639 1 1597640 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:1599899-TC 1 1599899 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I283V,Missense_I283V 1:1599909-GA 1 1599909 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_D279D,Synonymous_D279D exm4292 1 1601104 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T278M,Missense_T278M JHU_1.1601144 1 1601145 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_A264A,Synonymous_A264A exm4294 1 1601170 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P256L,Missense_P256L 1:1601530-ATACT-A 1 1601530 [I/D] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B variant.241 1 1601537 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S254L,Missense_S254L exm4297 1 1603011 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A215V,Missense_A215V JHU_1.1603162 1 1603163 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs184463929 1 1604818 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1609873 1 1609874 [A/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1610479 1 1610480 [C/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1610947 1 1610948 [G/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2264793 1 1611995 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1615775 1 1615776 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs28680811 1 1615776 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1619464 1 1619465 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9442411 1 1619767 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_001290264,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs144989325 1 1627768 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1628406 1 1628407 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B Silent,Silent,Silent,Silent,Silent,Silent chr1_1634999 1 1634999 [A/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_M649R,Missense_M658R,Silent,Missense_M662R,Silent,Missense_M659R 1:1635033-GA 1 1635033 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P638S,Missense_P647S,Silent,Missense_P651S,Silent,Missense_P648S var_1_1635271 1 1635272 [I/D] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON chr1_1635536 1 1635536 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y569C,Missense_Y578C,Silent,Missense_Y582C,Silent,Missense_Y579C Variant9 1 1635536 [I/D] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON 1:1636090-AG 1 1636090 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I478T,Missense_I487T,Silent,Missense_I491T,Silent,Missense_I488T JHU_1.1645365 1 1645366 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1645961 1 1645962 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1646548 1 1646549 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1647276 1 1647277 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_1647780 1 1647780 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.249 1 1647786 [I/D] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON var_1_1647858 1 1647858 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON Nonsense_Q139X,Nonsense_Q105X,Silent,Nonsense_Q129X,Nonsense_Q139X,Silent,Nonsense_Q129X,Nonsense_Q129X,Silent,Nonsense_Q129X,Silent,Nonsense_Q139X JHU_1.1648717 1 1648718 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1649377 1 1649378 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1650735 1 1650736 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs200755605 1 1650844 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON Missense_R93Q,Missense_R59Q,Silent,Missense_R93Q,Missense_R93Q,Silent,Missense_R93Q,Missense_R93Q,Silent,Missense_R93Q,Silent,Missense_R93Q rs201091435 1 1650885 [T/A] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A EXON Missense_E79D,Missense_E45D,Silent,Missense_E79D,Missense_E79D,Silent,Missense_E79D,Missense_E79D,Silent,Missense_E79D,Silent,Missense_E79D JHU_1.1650968 1 1650969 [T/C] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.1651354 1 1651355 [A/G] NM_001787,NM_033489,NM_033487,NM_001291345,NM_033486,NM_033490,NM_033529,NM_001313982,NR_132740,NM_001313896,NR_132739,NM_024011 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs144218667 1 1658785 [T/C] NM_001199787 SLC35E2A Silent 1:1659635-G-A 1 1659635 [A/G] NM_001199787,NM_182838 SLC35E2A,SLC35E2A EXON Silent,Silent rs149639351 1 1661190 [T/C] NM_001199787,NM_182838 SLC35E2A,SLC35E2A EXON Silent,Silent rs3817856 1 1663831 [T/C] NM_001199787,NM_182838 SLC35E2A,SLC35E2A EXON Silent,Silent exm2268858 1 1664124 [T/C] NM_001199787,NM_182838 SLC35E2A,SLC35E2A Silent,Silent 1:1666262-TC 1 1666262 [T/C] NM_001199787,NM_182838 SLC35E2A,SLC35E2A EXON Missense_D200G,Missense_D200G JHU_1.1669510 1 1669511 [G/C] NM_001199787,NM_182838 SLC35E2A,SLC35E2A Silent,Silent Variant12300 1 1670449 [D/I] NM_001199787,NM_182838 SLC35E2A,SLC35E2A EXON 1:1670463-CT 1 1670463 [T/C] NM_001199787,NM_182838 SLC35E2A,SLC35E2A EXON Missense_G119E,Missense_G119E JHU_1.1673908 1 1673909 [A/G] NM_001199787,NM_182838 SLC35E2A,SLC35E2A Silent,Silent 1:1684453-GA 1 1684453 [A/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_R379W,Missense_R324W,Missense_R411W,Missense_R556W,Missense_R411W,Missense_R411W rs7407 1 1684472 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Synonymous_P372P,Synonymous_P317P,Synonymous_P404P,Synonymous_P549P,Synonymous_P404P,Synonymous_P404P JHU_1.1684878 1 1684879 [A/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent,Silent 1:1685713-CT 1 1685713 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent,Silent 1:1686018-CT 1 1686018 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_D238N,Missense_D183N,Missense_D270N,Missense_D415N,Missense_D270N,Missense_D270N 1:1686040-GT 1 1686040 [T/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_N230K,Missense_N175K,Missense_N262K,Missense_N407K,Missense_N262K,Missense_N262K exm4499 1 1686063 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_V223M,Missense_V168M,Missense_V255M,Missense_V400M,Missense_V255M,Missense_V255M exm4503 1 1686081 [A/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_R217W,Missense_R162W,Missense_R249W,Missense_R394W,Missense_R249W,Missense_R249W exm4504 1 1686087 [C/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_E215Q,Missense_E160Q,Missense_E247Q,Missense_E392Q,Missense_E247Q,Missense_E247Q exm4505 1 1686116 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_R205Q,Missense_R150Q,Missense_R237Q,Missense_R382Q,Missense_R237Q,Missense_R237Q JHU_1.1686961 1 1686962 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent,Silent 1:1687996-CT 1 1687996 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_A117T,Missense_A62T,Missense_A149T,Missense_A294T,Missense_A149T,Missense_A149T exm4520 1 1688005 [A/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_P114S,Missense_P59S,Missense_P146S,Missense_P291S,Missense_P146S,Missense_P146S 1:1688082-GA 1 1688082 [A/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Silent,Missense_A265V,Silent,Silent exm4526 1 1688550 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Silent,Missense_A259T,Silent,Silent 1:1688568-CT 1 1688568 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Silent,Missense_A253T,Silent,Silent 1:1688585-G-GCC 1 1688585 [D/I] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON 1:1688592-CAGG-C 1 1688592 [I/D] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON exm4527 1 1688694 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_V75I,Missense_V20I,Missense_V107I,Missense_V211I,Missense_V107I,Missense_V107I 1:1688730-TG 1 1688730 [T/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_S63R,Missense_S8R,Missense_S95R,Missense_S199R,Missense_S95R,Missense_S95R 1:1689837-CT 1 1689837 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_S45N,Silent,Silent,Silent,Silent,Silent 1:1689870-GA 1 1689870 [A/G] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_P34L,Silent,Silent,Silent,Silent,Silent 1:1689963-CT 1 1689963 [T/C] NM_001198995,NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK,NADK EXON Missense_R3Q,Silent,Silent,Silent,Silent,Silent 1:1690600-CA 1 1690600 [A/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Missense_G172V,Silent,Silent 1:1690614-GC 1 1690614 [G/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Nonsense_Y167X,Silent,Silent exm4543 1 1690621 [A/G] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Missense_P165L,Silent,Silent exm4550 1 1691199 [T/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Missense_G136S,Silent,Silent 1:1691267-GA 1 1691267 [A/G] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Silent,Missense_T113I,Silent,Silent 1:1691342-CG 1 1691342 [C/G] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent JHU_1.1695074 1 1695075 [A/G] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent rs72634844 1 1695742 [T/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent JHU_1.1695830 1 1695831 [T/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent JHU_1.1696658 1 1696659 [A/G] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent 1:1696722-CT 1 1696722 [T/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Missense_A42T,Missense_A42T,Missense_A42T,Missense_A42T exm4570 1 1696761 [T/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK EXON Silent,Missense_D29N,Missense_D29N,Missense_D29N,Missense_D29N rs6603811 1 1706136 [T/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent rs59555069 1 1706886 [A/G] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent rs12041925 1 1707740 [T/G] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent JHU_1.1709118 1 1709119 [T/C] NM_001353642,NM_001198993,NM_001198994,NM_023018,NM_001353641 NADK,NADK,NADK,NADK,NADK Silent,Silent,Silent,Silent,Silent rs117658136 1 1711389 [A/G] NM_001198994,NM_001353641 NADK,NADK EXON Silent,Silent JHU_1.1713955 1 1713956 [G/C] rs742359 1 1715011 [A/C] JHU_1.1716530 1 1716531 [A/G] exm2250243 1 1720670 [A/G] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 EXON Synonymous_D246D,Synonymous_D146D,Synonymous_D246D rs3737626 1 1722585 [A/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs7545812 1 1725261 [A/G] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs10907185 1 1733219 [A/G] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent ilmnseq_rs869312825 1 1735987 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 EXON Missense_M101V,Missense_M1V,Missense_M101V ilmnseq_rs752746786 1 1737942 [A/G] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 EXON Missense_I80T,Silent,Missense_I80T rs61774984 1 1738973 [A/G] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent JHU_1.1743857 1 1743858 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs75113100 1 1748361 [A/G] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent JHU_1.1754044 1 1754045 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent JHU_1.1754185 1 1754186 [A/G] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent JHU_1.1755256 1 1755257 [A/T] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent exm4614 1 1756864 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 EXON Missense_E10G,Silent,Missense_E10G rs35821049 1 1767392 [A/G] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs4648727 1 1776269 [A/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent JHU_1.1777262 1 1777263 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs6681938 1 1781220 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs3855951 1 1804302 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs78934919 1 1809654 [A/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs7525092 1 1810090 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs6603802 1 1812521 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs191610814 1 1814896 [T/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs76616586 1 1814909 [A/G] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent rs16824526 1 1818129 [A/C] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent JHU_1.1818644 1 1818645 [T/G] NM_002074,NM_001282538,NM_001282539 GNB1,GNB1,GNB1 Silent,Silent,Silent JHU_1.1829774 1 1829775 [T/C] JHU_1.1830150 1 1830151 [T/C] JHU_1.1831590 1 1831591 [T/C] rs28625223 1 1838173 [T/C] JHU_1.1839058 1 1839059 [A/G] rs143149608 1 1843239 [T/C] JHU_1.1843238 1 1843239 [T/C] 1:1846722-GT 1 1846722 [T/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_M1I,Missense_M1I rs2247560 1 1846765 [A/G] NM_138705,NM_001330313 CALML6,CALML6 Silent,Silent 1:1847140-AC 1 1847140 [A/C] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_H15P,Silent rs28710181 1 1847531 [T/C] NM_138705,NM_001330313 CALML6,CALML6 Silent,Silent exm4638 1 1847886 [T/C] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_R29C,Missense_R12C exm4640 1 1847940 [A/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_E47K,Missense_E30K exm4644 1 1847968 [T/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_G56V,Missense_G39V exm4647 1 1847994 [G/C] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_L65V,Missense_L48V exm4656 1 1848197 [C/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_G87A,Missense_G70A rs74773083 1 1848197 [C/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_G87A,Missense_G70A rs200415259 1 1848206 [A/C] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_N90T,Missense_N73T exm1741176 1 1848231 [A/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_M98I,Missense_M81I 1:1848280-GA 1 1848280 [A/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_A115T,Missense_A98T exm4660 1 1848287 [A/G] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_R117H,Missense_R100H 1:1848476-AG-A 1 1848476 [D/I] NM_138705,NM_001330313 CALML6,CALML6 EXON rs111582404 1 1848601 [T/C] NM_138705,NM_001330313 CALML6,CALML6 EXON Missense_M172T,Missense_M155T 1:1849386-TG 1 1849386 [T/G] NM_178545 TMEM52 EXON Missense_T189P 1:1849569-GA 1 1849569 [A/G] NM_178545 TMEM52 EXON Missense_R128W 1:1849657-A-C 1 1849657 [A/C] NM_178545 TMEM52 Silent 1:1849691-CT 1 1849691 [T/C] NM_178545 TMEM52 Silent exm4696 1 1849727 [A/C] NM_178545 TMEM52 EXON Missense_M105R exm1741224 1 1849792 [G/C] NM_178545 TMEM52 EXON Missense_K83N 1:1849811-CT 1 1849811 [T/C] NM_178545 TMEM52 EXON Missense_R77Q rs28508199 1 1852484 [A/G] 1:1854078-CT 1 1854078 [T/C] NM_001304360 CFAP74 EXON Missense_G1590S rs2250833 1 1854321 [A/G] NM_001304360 CFAP74 Silent 1:1854422-AG 1 1854422 [A/G] NM_001304360 CFAP74 Silent 1:1854452-AG 1 1854452 [A/G] NM_001304360 CFAP74 EXON Missense_I1552T 1:1854495-TC 1 1854495 [T/C] NM_001304360 CFAP74 EXON Missense_T1538A 1:1854546-CT 1 1854546 [T/C] NM_001304360 CFAP74 EXON Missense_E1521K 1:1854558-GGA-G 1 1854558 [I/D] NM_001304360 CFAP74 EXON 1:1854815-GT 1 1854815 [T/G] NM_001304360 CFAP74 EXON Missense_H1505N 1:1854872-CT 1 1854872 [T/C] NM_001304360 CFAP74 EXON Missense_D1486N 1:1855365-GA 1 1855365 [A/G] NM_001304360 CFAP74 EXON Missense_T1413M JHU_1.1855707 1 1855708 [T/C] NM_001304360 CFAP74 Silent 1:1855890-GA 1 1855890 [A/G] NM_001304360 CFAP74 EXON Missense_R1392W 1:1855929-AG 1 1855929 [A/G] NM_001304360 CFAP74 EXON Missense_F1379L JHU_1.1856916 1 1856917 [A/G] NM_001304360 CFAP74 Silent 1:1857307-GA 1 1857307 [A/G] NM_001304360 CFAP74 EXON Missense_A1340V indel.273 1 1857349 [I/D] NM_001304360 CFAP74 EXON rs143829795 1 1857590 [T/C] NM_001304360 CFAP74 Silent 1:1857750-CA 1 1857750 [A/C] NM_001304360 CFAP74 EXON Missense_V1289F 1:1857946-GA 1 1857946 [A/G] NM_001304360 CFAP74 EXON Missense_R1260C 1:1858100-CT 1 1858100 [T/C] NM_001304360 CFAP74 EXON Missense_V1255I 1:1858426-GA 1 1858426 [A/G] NM_001304360 CFAP74 EXON Missense_A1190V 1:1859131-CT 1 1859131 [T/C] NM_001304360 CFAP74 EXON Missense_V1148I 1:1859176-TC 1 1859176 [T/C] NM_001304360 CFAP74 EXON Missense_N1133D 1:1861581-CA 1 1861581 [A/C] NM_001304360 CFAP74 EXON Missense_G1069V 1:1861699-CT 1 1861699 [T/C] NM_001304360 CFAP74 EXON Missense_A1030T 1:1861744-CT 1 1861744 [T/C] NM_001304360 CFAP74 EXON Missense_V1015I rs2803316 1 1865298 [A/G] NM_001304360 CFAP74 Silent JHU_1.1867022 1 1867023 [A/G] NM_001304360 CFAP74 Silent rs28658236 1 1868485 [A/G] NM_001304360 CFAP74 Silent JHU_1.1869697 1 1869698 [A/G] NM_001304360 CFAP74 Silent JHU_1.1870268 1 1870269 [T/C] NM_001304360 CFAP74 Silent 1:1870337-CT 1 1870337 [T/C] NM_001304360 CFAP74 EXON Missense_E990K 1:1871187-GA 1 1871187 [A/G] NM_001304360 CFAP74 EXON Missense_T908I JHU_1.1874113 1 1874114 [G/C] NM_001304360 CFAP74 Silent JHU_1.1874514 1 1874515 [A/G] NM_001304360 CFAP74 Silent 1:1875804-GA 1 1875804 [A/G] NM_001304360 CFAP74 EXON Missense_R818W JHU_1.1876014 1 1876015 [T/C] NM_001304360 CFAP74 Silent 1:1878458-CT 1 1878458 [T/C] NM_001304360 CFAP74 EXON Missense_E738K 1:1878477-A-G 1 1878477 [A/G] NM_001304360 CFAP74 EXON Synonymous_T731T JHU_1.1879738 1 1879739 [T/A] NM_001304360 CFAP74 Silent 1:1948934_1948935ins 1 1880373 [D/I] NM_001304360 CFAP74 rs143405200 1 1881158 [T/G] NM_001304360 CFAP74 Silent rs28840971 1 1881578 [A/G] NM_001304360 CFAP74 Silent JHU_1.1881774 1 1881775 [T/A] NM_001304360 CFAP74 Silent rs28624830 1 1885769 [A/G] NM_001304360 CFAP74 Silent JHU_1.1886221 1 1886222 [T/G] NM_001304360 CFAP74 Silent rs113682810 1 1886352 [T/C] NM_001304360 CFAP74 Silent 1:1886597-CA 1 1886597 [A/C] NM_001304360 CFAP74 Silent 1:1886888-CT 1 1886888 [T/C] NM_001304360 CFAP74 Silent exm4806 1 1887019 [A/G] NM_001304360 CFAP74 Silent exm4809 1 1887055 [T/C] NM_001304360 CFAP74 Silent 1:1887132-GA 1 1887132 [A/G] NM_001304360 CFAP74 EXON Missense_A725V exm4847 1 1887195 [T/G] NM_001304360 CFAP74 EXON Missense_A704E 1:1887286-TC 1 1887286 [T/C] NM_001304360 CFAP74 EXON Missense_S674G exm4863 1 1888115 [A/G] NM_001304360 CFAP74 EXON Missense_F654L exm4869 1 1888168 [A/G] NM_001304360 CFAP74 EXON Missense_T636M rs3820011 1 1888193 [A/C] NM_001304360 CFAP74 EXON Missense_G628C exm4871 1 1888193 [A/C] NM_001304360 CFAP74 EXON Missense_G628C rs36018191 1 1889356 [A/C] NM_001304360 CFAP74 Silent rs2803284 1 1889500 [T/C] NM_001304360 CFAP74 Silent exm4882 1 1890559 [T/C] NM_001304360 CFAP74 EXON Synonymous_S617S variant.277 1 1890609 [A/G] NM_001304360 CFAP74 EXON Nonsense_Q601X JHU_1.1891033 1 1891034 [T/C] NM_001304360 CFAP74 Silent JHU_1.1891155 1 1891156 [T/C] NM_001304360 CFAP74 Silent JHU_1.1891262 1 1891263 [A/T] NM_001304360 CFAP74 Silent exm4889 1 1891441 [T/C] NM_001304360 CFAP74 EXON Missense_G575R 1:1891477-AG 1 1891477 [A/G] NM_001304360 CFAP74 Silent 1:1891486-AG 1 1891486 [A/G] NM_001304360 CFAP74 Silent JHU_1.1891485 1 1891486 [A/G] NM_001304360 CFAP74 Silent Variant37621 1 1891525 [A/G] NM_001304360 CFAP74 Silent JHU_1.1892042 1 1892043 [A/G] NM_001304360 CFAP74 Silent rs115402077 1 1892988 [T/G] NM_001304360 CFAP74 Silent 1:1895248-GA 1 1895248 [A/G] NM_001304360 CFAP74 EXON Missense_T545M exm4907 1 1895269 [A/G] NM_001304360 CFAP74 EXON Missense_T538M exm4914 1 1896346 [A/G] NM_001304360 CFAP74 EXON Missense_P519L 1:1896364-CT 1 1896364 [T/C] NM_001304360 CFAP74 EXON Missense_R513H JHU_1.1896378 1 1896379 [T/C] NM_001304360 CFAP74 EXON Missense_R508H exm4915 1 1896379 [T/C] NM_001304360 CFAP74 EXON Missense_R508H 1:1896403-AG 1 1896403 [A/G] NM_001304360 CFAP74 EXON Missense_V500A exm4922 1 1896433 [T/C] NM_001304360 CFAP74 EXON Missense_R490H exm4928 1 1896494 [T/C] NM_001304360 CFAP74 EXON Missense_K470E exm4931 1 1897822 [T/G] NM_001304360 CFAP74 EXON Nonsense_Y463X exm4932 1 1897832 [T/C] NM_001304360 CFAP74 EXON Missense_N460S chr1_1897851 1 1897851 [T/C] NM_001304360 CFAP74 EXON Missense_E454K exm4936 1 1897889 [G/C] NM_001304360 CFAP74 EXON Missense_P441R 1:1897917-CT 1 1897917 [T/C] NM_001304360 CFAP74 EXON Missense_V432I 1:1897927-CA 1 1897927 [A/C] NM_001304360 CFAP74 EXON Missense_L428F JHU_1.1899572 1 1899573 [A/G] NM_001304360 CFAP74 Silent rs4648601 1 1899861 [T/C] NM_001304360 CFAP74 Silent 1:1900084-GA 1 1900084 [A/G] NM_001304360 CFAP74 EXON Missense_T412M exm4948 1 1900156 [T/C] NM_001304360 CFAP74 EXON Missense_R388Q exm4951 1 1900186 [T/C] NM_001304360 CFAP74 EXON Missense_K378R exm4955 1 1900211 [T/C] NM_001304360 CFAP74 EXON Missense_E370K exm4957 1 1900232 [T/C] NM_001304360 CFAP74 EXON Missense_I363V rs16824588 1 1900232 [T/C] NM_001304360 CFAP74 EXON Missense_I363V 1:1902123-GA 1 1902123 [A/G] NM_001304360 CFAP74 EXON Missense_R341C exm4965 1 1902129 [A/G] NM_001304360 CFAP74 EXON Missense_R339C exm4966 1 1902133 [G/C] NM_001304360 CFAP74 EXON Missense_H337Q exm4973 1 1902206 [A/G] NM_001304360 CFAP74 EXON Missense_A313V exm4974 1 1902225 [A/G] NM_001304360 CFAP74 EXON Missense_R307C 1:1902245-CT 1 1902245 [T/C] NM_001304360 CFAP74 EXON Missense_R300Q exm4977 1 1902246 [A/G] NM_001304360 CFAP74 EXON Missense_R300W rs4648603 1 1903303 [T/C] NM_001304360 CFAP74 Silent 1:1903420-CT 1 1903420 [T/C] NM_001304360 CFAP74 EXON Missense_R296Q exm4981 1 1903426 [A/G] NM_001304360 CFAP74 EXON Missense_A294V 1:1903465-CT 1 1903465 [T/C] NM_001304360 CFAP74 EXON Missense_R281H exm4988 1 1904401 [A/G] NM_001304360 CFAP74 EXON Missense_R254W exm4989 1 1904413 [T/C] NM_001304360 CFAP74 EXON Missense_K250E exm4990 1 1904424 [T/C] NM_001304360 CFAP74 EXON Missense_R246Q rs114557479 1 1904830 [A/G] NM_001304360 CFAP74 Silent JHU_1.1904829 1 1904830 [A/G] NM_001304360 CFAP74 Silent JHU_1.1905305 1 1905306 [A/C] NM_001304360 CFAP74 Silent exm4998 1 1905467 [A/G] NM_001304360 CFAP74 EXON Missense_I224T 1:1905485-CT 1 1905485 [T/C] NM_001304360 CFAP74 EXON Missense_R218Q exm5005 1 1905526 [A/C] NM_001304360 CFAP74 EXON Missense_E204D exm5009 1 1905557 [G/C] NM_001304360 CFAP74 EXON Missense_T194R 1:1905576-GA 1 1905576 [A/G] NM_001304360 CFAP74 EXON Missense_R188C rs16824603 1 1905790 [A/G] NM_001304360 CFAP74 Silent rs74046262 1 1906804 [A/G] NM_001304360 CFAP74 Silent rs59531074 1 1907224 [T/C] NM_001304360 CFAP74 Silent JHU_1.1907738 1 1907739 [T/C] NM_001304360 CFAP74 Silent JHU_1.1912180 1 1912181 [T/C] NM_001304360 CFAP74 Silent rs4648746 1 1914487 [A/G] NM_001304360 CFAP74 Silent JHU_1.1916039 1 1916040 [T/C] NM_001304360 CFAP74 Silent rs3795283 1 1916587 [T/G] NM_001304360 CFAP74 Silent 1:1916826-CT 1 1916826 [T/C] NM_001304360 CFAP74 EXON Missense_E167K exm5043 1 1916904 [T/C] NM_001304360 CFAP74 EXON Missense_V141M 1:1918401-CT 1 1918401 [T/C] NM_001304360 CFAP74 EXON Missense_A124T 1:1918411-T-TG 1 1918411 [D/I] NM_001304360 CFAP74 EXON exm5049 1 1918445 [T/C] NM_001304360 CFAP74 EXON Missense_R109Q exm5052 1 1918475 [G/C] NM_001304360 CFAP74 Silent exm5057 1 1920015 [A/G] NM_001304360 CFAP74 EXON Missense_R78W 1:1920024-AG 1 1920024 [A/G] NM_001304360 CFAP74 EXON Missense_F75L rs77986465 1 1921626 [T/G] NM_001304360 CFAP74 Silent JHU_1.1921807 1 1921808 [T/C] NM_001304360 CFAP74 Silent rs13303195 1 1922303 [T/C] NM_001304360 CFAP74 Silent JHU_1.1922833 1 1922834 [T/C] NM_001304360 CFAP74 Silent JHU_1.1923128 1 1923129 [A/G] NM_001304360 CFAP74 Silent JHU_1.1923559 1 1923560 [A/G] NM_001304360 CFAP74 Silent JHU_1.1925069 1 1925070 [A/G] NM_001304360 CFAP74 Silent JHU_1.1925142 1 1925143 [A/C] NM_001304360 CFAP74 Silent rs6661597 1 1926087 [T/C] NM_001304360 CFAP74 Silent rs6605081 1 1930754 [T/C] NM_001304360 CFAP74 Silent rs28706276 1 1933267 [A/G] NM_001304360 CFAP74 Silent rs56351829 1 1935509 [T/C] rs72636339 1 1935580 [A/C] JHU_1.1937538 1 1937539 [A/G] rs28550169 1 1939826 [T/C] JHU_1.1941194 1 1941195 [T/C] rs6656398 1 1941929 [A/G] rs117921778 1 1943235 [A/G] rs13303016 1 1946591 [A/G] rs141729514 1 1946980 [A/G] JHU_1.1953841 1 1953842 [T/C] NM_000815 GABRD Silent exm2250439 1 1956414 [T/C] NM_000815 GABRD EXON Synonymous_S34S 1:1956469-CT 1 1956469 [T/C] NM_000815 GABRD EXON Missense_R53C 1:1956970-CT 1 1956970 [T/C] NM_000815 GABRD EXON Missense_T88M 1:1957158-GA 1 1957158 [A/G] NM_000815 GABRD EXON Missense_V151M 1:1959050-GA 1 1959050 [A/G] NM_000815 GABRD EXON Missense_A169T rs3795279 1 1959121 [T/C] NM_000815 GABRD Silent exm1744492 1 1959595 [T/C] NM_000815 GABRD EXON Synonymous_Y185Y exm5098 1 1959617 [A/G] NM_000815 GABRD EXON Missense_V193I 1:1959636-GA 1 1959636 [A/G] NM_000815 GABRD EXON Missense_S199N rs139300921 1 1959698 [T/C] NM_000815 GABRD EXON Missense_R220C exm5099 1 1959698 [T/C] NM_000815 GABRD EXON Missense_R220C exm1744497 1 1959730 [T/C] NM_000815 GABRD EXON Synonymous_S230S rs74802917 1 1960388 [T/C] NM_000815 GABRD Silent exm5105 1 1960588 [T/C] NM_000815 GABRD EXON Missense_R244W 1:1960630-TC 1 1960630 [T/C] NM_000815 GABRD EXON Missense_S258P exm5108 1 1960633 [A/G] NM_000815 GABRD EXON Missense_V259I 1:1960673-GT 1 1960673 [T/G] NM_000815 GABRD EXON Missense_S272I 1:1961009-CGAT-C 1 1961009 [I/D] NM_000815 GABRD EXON 1:1961052-GA 1 1961052 [A/G] NM_000815 GABRD EXON Missense_A304T 1:1961498-GA 1 1961498 [A/G] NM_000815 GABRD EXON Missense_R379Q exm5130 1 1961512 [T/C] NM_000815 GABRD EXON Missense_P384S 1:1961614-CT 1 1961614 [T/C] NM_000815 GABRD EXON Missense_R418W exm5141 1 1961672 [T/C] NM_000815 GABRD EXON Missense_A437V 1:1961681-CT 1 1961681 [T/C] NM_000815 GABRD EXON Missense_A440V 1:1961707-GA 1 1961707 [A/G] NM_000815 GABRD EXON Missense_A449T rs16824627 1 1962633 [A/G] JHU_1.1965191 1 1965192 [A/G] JHU_1.1967013 1 1967014 [A/G] JHU_1.1967403 1 1967404 [A/G] rs2376803 1 1967954 [T/C] JHU_1.1971388 1 1971389 [C/G] JHU_1.1971434 1 1971435 [A/G] rs75258103 1 1972347 [T/C] rs78405299 1 1973103 [A/C] rs3121823 1 1974895 [T/C] JHU_1.1977451 1 1977452 [T/C] JHU_1.1977494 1 1977495 [A/G] JHU_1.1977648 1 1977649 [T/C] rs146033857 1 1978139 [A/G] rs149731611 1 1978355 [A/G] rs6661694 1 1978655 [A/G] rs3128315 1 1979064 [T/C] JHU_1.1979565 1 1979566 [C/G] rs78101035 1 1980769 [A/C] NR_135509 LOC105378591 EXON Silent rs13303022 1 1983208 [T/C] NM_002744 PRKCZ Silent rs28671574 1 1983701 [A/G] NM_002744 PRKCZ Silent JHU_1.1983791 1 1983792 [A/T] NM_002744 PRKCZ Silent rs181442197 1 1985286 [T/C] NM_002744 PRKCZ Silent rs13303289 1 1985513 [G/C] NM_002744 PRKCZ Silent rs28668690 1 1985705 [A/G] NM_002744 PRKCZ Silent JHU_1.1986736 1 1986737 [A/G] NM_002744 PRKCZ Silent exm5157 1 1986954 [A/G] NM_002744 PRKCZ EXON Missense_R49H rs2803309 1 1987803 [A/G] NM_002744 PRKCZ Silent rs117887496 1 1990715 [T/C] NM_002744 PRKCZ Silent 1:1990991-AC 1 1990991 [A/C] NM_002744 PRKCZ EXON Missense_T99P rs1878747 1 1991162 [A/G] NM_002744 PRKCZ Silent JHU_1.1991651 1 1991652 [T/C] NM_002744 PRKCZ Silent rs6605074 1 1992748 [T/C] NM_002744 PRKCZ Silent rs17777295 1 1992977 [T/G] NM_002744 PRKCZ Silent rs117047034 1 1994357 [A/G] NM_002744 PRKCZ Silent rs117541835 1 1995211 [T/A] NM_002744 PRKCZ Silent JHU_1.1998715 1 1998716 [T/C] NM_002744 PRKCZ Silent JHU_1.1999679 1 1999680 [A/G] NM_002744 PRKCZ Silent rs6663158 1 2004098 [A/G] NM_002744 PRKCZ Silent rs182021540 1 2005486 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2803306 1 2007291 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16824716 1 2007693 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs28652946 1 2008688 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2009550 1 2009551 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs371409282 1 2010986 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2011763 1 2011764 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs139578103 1 2011840 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2011855 1 2011856 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2803346 1 2011958 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2015158 1 2015159 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2803310 1 2017297 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13303130 1 2019070 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13303198 1 2020905 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2490558 1 2022095 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2459994 1 2024064 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2024506 1 2024507 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs884080 1 2026749 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2026824 1 2026825 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs117110349 1 2026861 [T/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2027103 1 2027104 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12123775 1 2027424 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7513222 1 2027901 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79653337 1 2028121 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2030865 1 2030866 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:2031774-A-C 1 2031774 [A/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2033206 1 2033207 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10910030 1 2035684 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2036206 1 2036207 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:2106663del88 1 2038103 [D/I] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ rs12410859 1 2038732 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2038823 1 2038824 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2038929 1 2038930 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4648807 1 2040898 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4648808 1 2040936 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs144245542 1 2041270 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2045379 1 2045380 [A/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2045750 1 2045751 [C/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2046228 1 2046229 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2046470 1 2046471 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs138357383 1 2046874 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs142934599 1 2047352 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3107146 1 2047584 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2052727 1 2052728 [A/T] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11589827 1 2055856 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2055855 1 2055856 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11578892 1 2055893 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2056114 1 2056115 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74534542 1 2056666 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2058550 1 2058551 [C/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77602667 1 2059361 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2061662 1 2061663 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116869240 1 2062213 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs141109084 1 2063552 [C/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2063840 1 2063841 [G/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72925854 1 2063841 [G/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2064428 1 2064429 [A/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2065067 1 2065068 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.294 1 2066702 [I/D] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON rs12744596 1 2067708 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs425277 1 2069172 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs425277 1 2069172 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs3753242 1 2069681 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16824862 1 2070601 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs424079 1 2071340 [A/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2503706 1 2075251 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm5179 1 2075653 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_A142V,Silent,Silent,Silent,Silent,Silent,Missense_A38V,Silent,Silent exm5180 1 2075672 [G/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_S148R,Silent,Silent,Silent,Silent,Silent,Missense_S44R,Silent,Silent exm5184 1 2075740 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_R171H,Silent,Silent,Silent,Silent,Silent,Missense_R67H,Silent,Silent exm1748820 1 2075748 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_G174S,Silent,Silent,Silent,Silent,Silent,Missense_G70S,Silent,Silent 1:2075770-GA 1 2075770 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_R181K,Silent,Silent,Silent,Silent,Silent,Missense_R77K,Silent,Silent 1:2077409-A-G 1 2077409 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm5190 1 2077520 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_D203N,Silent,Missense_D20N,Missense_D20N,Silent,Missense_D20N,Missense_D99N,Silent,Missense_D20N rs2257182 1 2082566 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34944978 1 2082829 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2082828 1 2082829 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2091678 1 2091679 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3765924 1 2091831 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs192034007 1 2095455 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3128304 1 2096240 [C/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:2100716-AG 1 2100716 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs262643 1 2100840 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs140061679 1 2103153 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:2103801-CT 1 2103801 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_P420L,Silent,Missense_P245L,Missense_P245L,Missense_P183L,Missense_P237L,Missense_P316L,Missense_P183L,Missense_P237L 1:2105416-GA 1 2105416 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_D456N,Silent,Missense_D281N,Missense_D281N,Missense_D219N,Missense_D273N,Missense_D352N,Missense_D219N,Missense_D273N exm5240 1 2106723 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_A516T,Silent,Missense_A341T,Missense_A341T,Missense_A279T,Missense_A333T,Missense_A412T,Missense_A279T,Missense_A333T variant.297 1 2106745 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Nonsense_W523X,Silent,Nonsense_W348X,Nonsense_W348X,Nonsense_W286X,Nonsense_W340X,Nonsense_W419X,Nonsense_W286X,Nonsense_W340X exm5242 1 2106747 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Missense_D524N,Silent,Missense_D349N,Missense_D349N,Missense_D287N,Missense_D341N,Missense_D420N,Missense_D287N,Missense_D341N JHU_1.2106762 1 2106763 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11587831 1 2110848 [T/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs141579622 1 2110965 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11589994 1 2111294 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs149764291 1 2111411 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77958421 1 2112099 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs262689 1 2113266 [A/G] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582,NR_146290 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ-AS1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74912021 1 2114271 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582,NR_146290 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ-AS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:2116722-CT 1 2116722 [T/C] NM_002744,NR_146911,NM_001350803,NM_001350804,NM_001350806,NM_001033581,NM_001242874,NM_001350805,NM_001033582,NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671 PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,PRKCZ,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A230T,Missense_A189T,Silent,Missense_A147T,Missense_A147T indel.298 1 2116849 [I/D] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON 1:2116872-CT 1 2116872 [T/C] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Missense_G180S,Missense_G139S,Silent,Missense_G97S,Missense_G97S 1:2117649-AG 1 2117649 [A/G] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Silent,Silent,Silent,Missense_M1T,Missense_M1T JHU_1.2119037 1 2119038 [T/C] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 Silent,Silent,Silent,Silent,Silent rs144179083 1 2119219 [A/G] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 Silent,Silent,Silent,Silent,Silent 1:2121541-GA 1 2121541 [A/G] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:2121623-GA 1 2121623 [A/G] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:2121747-AC 1 2121747 [A/C] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:2121751-GA 1 2121751 [A/G] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.2121750 1 2121751 [A/G] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent Variant37622 1 2121850 [T/C] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent Variant11 1 2124345 [D/I] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Variant12301 1 2124346 [D/I] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON 1:2124346-TC 1 2124346 [T/C] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K180R 1:2124383-GA 1 2124383 [A/G] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R168W exm5277 1 2125086 [G/C] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Missense_S150W,Missense_S109W,Missense_F154L,Silent,Silent,Silent,Missense_F154L,Missense_F257L,Missense_S109W,Missense_F154L 1:2125123-GA 1 2125123 [A/G] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Missense_R138W,Missense_R97W,Missense_A142V,Silent,Silent,Silent,Missense_A142V,Missense_A245V,Missense_R97W,Missense_A142V exm5287 1 2125275 [T/C] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Missense_R87H,Missense_R46H,Synonymous_P91P,Silent,Silent,Silent,Synonymous_P91P,Synonymous_P194P,Missense_R46H,Synonymous_P91P exm5301 1 2125543 [A/G] NM_001146310,NM_001256945,NM_001282673,NM_001282672,NM_001282671,NR_046427,NM_182533,NM_001282670,NM_001256947,NM_001256946 FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20,FAAP20 EXON Silent,Silent,Missense_L31P,Silent,Silent,Silent,Missense_L31P,Missense_L134P,Silent,Missense_L31P exm5304 1 2129458 [T/G] NM_001146310,NM_001282670 FAAP20,FAAP20 EXON Missense_T58K,Missense_T120K exm5306 1 2129498 [A/G] NM_001146310,NM_001282670 FAAP20,FAAP20 EXON Missense_P45S,Missense_P107S Variant37623 1 2129582 [T/C] NM_001146310,NM_001282670 FAAP20,FAAP20 Silent,Silent 1:2130295-CT 1 2130295 [T/C] NM_001146310,NM_001282670 FAAP20,FAAP20 EXON Silent,Missense_V45M 1:2130352-AC 1 2130352 [A/C] NM_001146310,NM_001282670 FAAP20,FAAP20 EXON Silent,Missense_C26G rs75548669 1 2131094 [T/C] NM_001146310,NM_001282670 FAAP20,FAAP20 EXON Silent,Silent rs71511333 1 2133752 [T/C] NM_001146310,NM_001282670 FAAP20,FAAP20 Silent,Silent JHU_1.2139898 1 2139899 [T/G] NM_001282670 FAAP20 Silent JHU_1.2144106 1 2144107 [A/G] NM_001282670 FAAP20 EXON Silent chr1_2144374 1 2144374 [T/G] rs262695 1 2144788 [A/G] Variant37624 1 2144800 [A/G] Variant37625 1 2144880 [T/C] rs114459642 1 2155234 [A/G] rs57497799 1 2155862 [A/G] 1:2155881-T-C 1 2155881 [T/C] rs149588096 1 2155926 [A/G] rs2460000 1 2156362 [A/G] JHU_1.2156714 1 2156715 [C/G] seq-rs387907306 1 2160305 [A/G] NM_003036 SKI EXON Missense_G34S seq-rs387907306.1 1 2160305 [T/G] NM_003036 SKI EXON Missense_G34C ilmnseq_rs387907305 1 2160306 [A/G] NM_003036 SKI EXON Missense_G34D seq-rs863223723 1 2160551 [A/G] NM_003036 SKI EXON Missense_G116R 1:2160552-G-A 1 2160552 [A/G] NM_003036 SKI EXON Missense_G116E IlmnSeq_rs387907303 1 2160552 [A/G] NM_003036 SKI EXON Missense_G116E 1:2160668-GA 1 2160668 [A/G] NM_003036 SKI EXON Missense_A155T exm5336 1 2160845 [A/G] NM_003036 SKI EXON Missense_S214G rs149642284 1 2161003 [T/C] NM_003036 SKI EXON Synonymous_A266A 1:2161014-CGGA-C 1 2161014 [I/D] NM_003036 SKI EXON 1:2161090-GT 1 2161090 [T/G] NM_003036 SKI EXON Missense_E295D rs75096312 1 2161638 [G/C] NM_003036 SKI Silent JHU_1.2164637 1 2164638 [T/C] NM_003036 SKI Silent rs262680 1 2167149 [T/C] NM_003036 SKI Silent rs867635 1 2168604 [T/C] NM_003036 SKI Silent rs16824924 1 2169380 [A/G] NM_003036 SKI Silent rs76859665 1 2169695 [T/G] NM_003036 SKI Silent 1:2170517-G-C 1 2170517 [G/C] NM_003036 SKI Silent JHU_1.2171076 1 2171077 [A/G] NM_003036 SKI Silent rs263526 1 2173504 [T/C] NM_003036 SKI Silent rs260513 1 2180524 [A/G] NM_003036 SKI Silent rs77797313 1 2186115 [A/G] NM_003036 SKI Silent rs118018485 1 2187633 [T/C] NM_003036 SKI Silent JHU_1.2187910 1 2187911 [A/G] NM_003036 SKI Silent rs12084736 1 2189580 [T/C] NM_003036 SKI Silent rs79829615 1 2192783 [G/C] NM_003036 SKI Silent rs903908 1 2202967 [T/C] NM_003036 SKI Silent rs4648819 1 2204790 [A/G] NM_003036 SKI Silent JHU_1.2205526 1 2205527 [A/G] NM_003036 SKI Silent JHU_1.2205547 1 2205548 [A/C] NM_003036 SKI Silent JHU_1.2205580 1 2205581 [A/C] NM_003036 SKI Silent rs74475014 1 2206041 [T/C] NM_003036 SKI Silent rs10797418 1 2206444 [A/G] NM_003036 SKI Silent rs3795275 1 2209780 [A/G] NM_003036 SKI Silent rs10910047 1 2211849 [A/G] NM_003036 SKI Silent rs6678490 1 2215121 [T/C] NM_003036 SKI Silent JHU_1.2215908 1 2215909 [A/C] NM_003036 SKI Silent JHU_1.2215977 1 2215978 [C/G] NM_003036 SKI Silent JHU_1.2216367 1 2216368 [T/G] NM_003036 SKI Silent JHU_1.2216390 1 2216391 [A/G] NM_003036 SKI Silent rs12119470 1 2218100 [T/C] NM_003036 SKI Silent rs59476564 1 2218129 [T/C] NM_003036 SKI Silent rs117769321 1 2218580 [T/C] NM_003036 SKI Silent JHU_1.2219879 1 2219880 [A/C] NM_003036 SKI Silent JHU_1.2220069 1 2220070 [A/T] NM_003036 SKI Silent JHU_1.2220424 1 2220425 [T/C] NM_003036 SKI Silent rs12562527 1 2220429 [A/G] NM_003036 SKI Silent rs2017143 1 2220649 [T/C] NM_003036 SKI Silent rs878093 1 2221838 [A/G] NM_003036 SKI Silent rs903920 1 2222560 [A/G] NM_003036 SKI Silent JHU_1.2222720 1 2222721 [A/G] NM_003036 SKI Silent rs884940 1 2223866 [T/C] NM_003036 SKI Silent JHU_1.2225250 1 2225251 [T/C] NM_003036 SKI Silent JHU_1.2225283 1 2225284 [A/G] NM_003036 SKI Silent rs12024136 1 2225412 [T/C] NM_003036 SKI Silent JHU_1.2225496 1 2225497 [A/C] NM_003036 SKI Silent JHU_1.2225944 1 2225945 [A/C] NM_003036 SKI Silent rs140182288 1 2226159 [T/C] NM_003036 SKI Silent JHU_1.2227172 1 2227173 [A/G] NM_003036 SKI Silent rs116285475 1 2227892 [T/C] NM_003036 SKI Silent rs12562729 1 2229140 [T/C] NM_003036 SKI Silent rs116162952 1 2229387 [A/G] NM_003036 SKI Silent JHU_1.2230798 1 2230799 [T/C] NM_003036 SKI Silent rs55710545 1 2231966 [G/C] NM_003036 SKI Silent rs72643476 1 2232532 [A/G] NM_003036 SKI Silent JHU_1.2232663 1 2232664 [T/C] NM_003036 SKI Silent rs1496555 1 2234251 [A/G] NM_003036 SKI Silent rs199634070 1 2234410 [A/G] NM_003036 SKI Silent 1:2234441-AG 1 2234441 [A/G] NM_003036 SKI EXON Missense_I332V rs150934009 1 2234480 [A/G] NM_003036 SKI EXON Missense_A345T exm5356 1 2234480 [A/G] NM_003036 SKI EXON Missense_A345T rs2279702 1 2234632 [A/G] NM_003036 SKI Silent exm5368 1 2234791 [T/C] NM_003036 SKI EXON Missense_A388V rs141862996 1 2234824 [T/C] NM_003036 SKI EXON Missense_A399V exm5373 1 2234824 [T/C] NM_003036 SKI EXON Missense_A399V rs2256178 1 2234903 [T/C] NM_003036 SKI Silent rs370921440 1 2235271 [T/C] NM_003036 SKI Silent rs201613746 1 2235388 [T/C] NM_003036 SKI EXON Missense_R441W 1:2235473-CT 1 2235473 [T/C] NM_003036 SKI EXON Missense_A469V 1:2235747-CA 1 2235747 [A/C] NM_003036 SKI EXON Missense_S497Y 1:2235887-CA 1 2235887 [A/C] NM_003036 SKI EXON Missense_H544N 1:2235912-GA 1 2235912 [A/G] NM_003036 SKI EXON Missense_G552D 1:2235944-CA 1 2235944 [A/C] NM_003036 SKI EXON Missense_L563M exm2232575 1 2235963 [T/C] NM_003036 SKI EXON Missense_M569T 1:2235965-CT 1 2235965 [T/C] NM_003036 SKI EXON Missense_R570C 1:2236002-AG 1 2236002 [A/G] NM_003036 SKI EXON Missense_Q582R rs144448332 1 2236319 [A/G] NM_003036 SKI Silent JHU_1.2237019 1 2237020 [T/G] NM_003036 SKI Silent JHU_1.2237151 1 2237152 [T/G] NM_003036 SKI Silent 1:2237480-GA 1 2237480 [A/G] NM_003036 SKI EXON Missense_A597T 1:2237552-GA 1 2237552 [A/G] NM_003036 SKI EXON Missense_A621T 1:2237581-CCAA-C 1 2237581 [I/D] NM_003036 SKI EXON ilmnseq_rs773151547 1 2237581 [T/C] NM_003036 SKI EXON Synonymous_A630A JHU_1.2240382 1 2240383 [T/C] NM_003036 SKI EXON Silent JHU_1.2240632 1 2240633 [A/C] NM_003036 SKI EXON Silent JHU_1.2241343 1 2241344 [T/C] NM_003036 SKI EXON Silent JHU_1.2242852 1 2242853 [T/C] JHU_1.2243563 1 2243564 [A/G] rs61746618 1 2250617 [T/C] rs12082516 1 2251160 [T/C] JHU_1.2252279 1 2252280 [T/C] exm1764513 1 2252827 [A/G] NM_024848 MORN1 EXON Missense_R497W 1:2252866-GA 1 2252866 [A/G] NM_024848 MORN1 EXON Nonsense_Q484X exm5434 1 2252937 [T/C] NM_024848 MORN1 EXON Missense_R460Q 1:2252959-GA 1 2252959 [A/G] NM_024848 MORN1 EXON Missense_P453S 1:2252962-GT 1 2252962 [T/G] NM_024848 MORN1 EXON Missense_L452M 1:2252963-CA 1 2252963 [A/C] NM_024848 MORN1 EXON Missense_R451S exm5435 1 2252967 [T/C] NM_024848 MORN1 EXON Missense_R450H exm5436 1 2252970 [T/C] NM_024848 MORN1 EXON Missense_G449E exm2232597 1 2252973 [A/G] NM_024848 MORN1 EXON Missense_L448P exm5439 1 2253010 [T/C] NM_024848 MORN1 EXON Missense_V436M JHU_1.2253186 1 2253187 [T/C] NM_024848 MORN1 Silent JHU_1.2253201 1 2253202 [A/G] NM_024848 MORN1 Silent JHU_1.2253326 1 2253327 [T/C] NM_024848 MORN1 Silent JHU_1.2254710 1 2254711 [T/C] NM_024848 MORN1 Silent 1:2255550-GA 1 2255550 [A/G] NM_024848 MORN1 EXON Missense_A428V JHU_1.2256403 1 2256404 [T/G] NM_024848 MORN1 Silent rs61762084 1 2256460 [T/C] NM_024848 MORN1 Silent JHU_1.2256490 1 2256491 [T/C] NM_024848 MORN1 Silent JHU_1.2256539 1 2256540 [T/C] NM_024848 MORN1 Silent rs2643892 1 2257491 [T/C] NM_024848 MORN1 Silent rs113792968 1 2258500 [T/C] NM_024848 MORN1 Silent rs2645064 1 2260545 [A/G] NM_024848 MORN1 Silent rs2645065 1 2261222 [A/C] NM_024848 MORN1 Silent JHU_1.2261606 1 2261607 [A/G] NM_024848 MORN1 Silent rs113341642 1 2262165 [T/C] NM_024848 MORN1 Silent rs146620038 1 2262487 [A/G] NM_024848 MORN1 Silent JHU_1.2262663 1 2262664 [A/G] NM_024848 MORN1 Silent 1:2263262-A-G 1 2263262 [A/G] NM_024848 MORN1 Silent rs903904 1 2263888 [T/C] NM_024848 MORN1 Silent rs2643899 1 2266078 [T/C] NM_024848 MORN1 Silent JHU_1.2266120 1 2266121 [T/C] NM_024848 MORN1 Silent rs74351101 1 2266231 [T/C] NM_024848 MORN1 Silent JHU_1.2266311 1 2266312 [T/C] NM_024848 MORN1 Silent JHU_1.2266349 1 2266350 [A/G] NM_024848 MORN1 Silent JHU_1.2266455 1 2266456 [A/C] NM_024848 MORN1 Silent rs2643900 1 2266714 [G/C] NM_024848 MORN1 Silent JHU_1.2266806 1 2266807 [T/C] NM_024848 MORN1 Silent JHU_1.2267122 1 2267123 [T/C] NM_024848 MORN1 Silent JHU_1.2267556 1 2267557 [T/C] NM_024848 MORN1 Silent exm5454 1 2267935 [A/G] NM_024848 MORN1 EXON Missense_T408M 1:2267938-GT 1 2267938 [T/G] NM_024848 MORN1 EXON Missense_P407H exm5460 1 2268156 [G/C] NM_024848 MORN1 EXON Missense_K390N exm1765180 1 2268280 [T/C] NM_024848 MORN1 EXON Missense_H349R JHU_1.2270734 1 2270735 [T/C] NM_024848 MORN1 Silent 1:2271011-G-A 1 2271011 [A/G] NM_024848 MORN1 Silent JHU_1.2271176 1 2271177 [T/C] NM_024848 MORN1 Silent JHU_1.2272797 1 2272798 [A/C] NM_024848 MORN1 Silent JHU_1.2273143 1 2273144 [A/G] NM_024848 MORN1 Silent JHU_1.2273904 1 2273905 [T/C] NM_024848 MORN1 Silent JHU_1.2275032 1 2275033 [T/C] NM_024848 MORN1 Silent rs143804555 1 2276350 [A/C] NM_024848 MORN1 Silent rs72920966 1 2276881 [A/G] NM_024848 MORN1 Silent JHU_1.2277705 1 2277706 [A/G] NM_024848 MORN1 Silent rs113506906 1 2279986 [T/C] NM_024848 MORN1 Silent rs2055204 1 2280661 [A/G] NM_024848 MORN1 Silent rs117811682 1 2281529 [A/G] NM_024848 MORN1 Silent rs7527871 1 2281726 [A/C] NM_024848 MORN1 Silent rs74731693 1 2282371 [T/C] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs4648831 1 2283117 [T/C] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent JHU_1.2283265 1 2283266 [T/C] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs2843130 1 2283313 [G/C] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs3795272 1 2284195 [T/C] NM_024848 MORN1 Silent exm1766442 1 2289030 [T/C] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_E293K,Missense_E293K exm5481 1 2290034 [A/G] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_P289L,Missense_P289L indel.309 1 2290107 [D/I] NM_024848,NM_001301060 MORN1,MORN1 EXON 1:2290119-CT 1 2290119 [T/C] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_V261I,Missense_V261I exm5488 1 2290143 [A/G] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_R253W,Missense_R253W JHU_1.2290335 1 2290336 [T/C] NM_024848,NM_001301060 MORN1,MORN1 Silent,Silent JHU_1.2292652 1 2292653 [A/C] NM_024848,NM_001301060 MORN1,MORN1 Silent,Silent rs114820209 1 2294349 [T/C] NM_024848,NM_001301060 MORN1,MORN1 Silent,Silent JHU_1.2301470 1 2301471 [G/C] NM_024848,NM_001301060 MORN1,MORN1 Silent,Silent JHU_1.2301608 1 2301609 [T/G] NM_024848,NM_001301060 MORN1,MORN1 Silent,Silent rs10910061 1 2303512 [A/G] NM_024848,NM_001301060 MORN1,MORN1 Silent,Silent rs2840534 1 2303566 [A/G] NM_024848,NM_001301060 MORN1,MORN1 Silent,Silent rs374124212 1 2303726 [A/G] NM_024848,NM_001301060 MORN1,MORN1 Silent,Silent exm5493 1 2304000 [T/G] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_P222Q,Missense_P222Q exm5497 1 2305918 [T/C] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_I206V,Missense_I206V exm5498 1 2305932 [T/G] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_Y201S,Missense_Y201S 1:2305951-GT 1 2305951 [T/G] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_H195N,Missense_H195N exm5500 1 2305965 [A/C] NM_024848,NM_001301060 MORN1,MORN1 EXON Missense_L190R,Missense_L190R rs2279703 1 2306695 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Silent,Silent,Silent rs75230941 1 2306910 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Silent,Silent,Silent rs115738499 1 2307083 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Silent,Silent,Silent rs80233729 1 2307105 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Silent,Silent,Silent rs12070746 1 2308029 [A/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Silent,Silent,Silent rs2843162 1 2308517 [C/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Silent,Silent,Silent 1:2310508-CT 1 2310508 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 Silent,Silent,Silent 1:2310529-CT 1 2310529 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 Silent,Silent,Silent 1:2310551-CT 1 2310551 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Silent,Silent,Silent rs61760819 1 2311393 [A/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 Silent,Silent,Silent rs2643908 1 2312395 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 Silent,Silent,Silent JHU_1.2314705 1 2314706 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 Silent,Silent,Silent rs118065946 1 2314989 [A/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 Silent,Silent,Silent JHU_1.2315031 1 2315032 [A/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 Silent,Silent,Silent rs2843128 1 2315680 [A/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 Silent,Silent,Silent rs138616555 1 2316259 [A/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 Silent,Silent,Silent 1:2316466-CT 1 2316466 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_R163Q,Missense_R163Q,Silent 1:2316467-GA 1 2316467 [A/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_R163W,Missense_R163W,Silent 1:2316472-CT 1 2316472 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_R161Q,Missense_R161Q,Silent exm5515 1 2316485 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_G157S,Missense_G157S,Silent exm2232754 1 2316488 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_D156N,Missense_D156N,Silent exm5521 1 2317268 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_G143S,Missense_G143S,Silent 1:2317288-AG 1 2317288 [A/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_F136S,Missense_F136S,Silent 1:2317310-CT 1 2317310 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_G129R,Missense_G129R,Silent rs3736331 1 2318653 [A/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 Silent,Silent,Silent 1:2318864-GT 1 2318864 [T/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Synonymous_R118R,Synonymous_R118R,Silent 1:2318871-GA 1 2318871 [A/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Synonymous_H115H,Synonymous_H115H,Silent 1:2318901-GA 1 2318901 [A/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Synonymous_A105A,Synonymous_A105A,Silent exm5542 1 2319738 [T/C] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Missense_E63K,Missense_E63K,Silent JHU_1.2323028 1 2323029 [C/G] NM_024848,NM_001301060,NR_125361 MORN1,MORN1,MORN1 EXON Silent,Silent,Silent JHU_1.2324880 1 2324881 [G/C] NM_007033 RER1 Silent JHU_1.2325159 1 2325160 [T/C] NM_007033 RER1 Silent rs76927534 1 2325760 [A/G] NM_007033 RER1 Silent rs1123571 1 2326009 [A/G] NM_007033 RER1 Silent rs3736330 1 2327075 [T/C] NM_007033 RER1 Silent 1:2327260-GA 1 2327260 [A/G] NM_007033 RER1 EXON Missense_V11I JHU_1.2329563 1 2329564 [A/G] NM_007033 RER1 Silent rs3001344 1 2329808 [A/G] NM_007033 RER1 Silent rs6693447 1 2330190 [T/G] NM_007033 RER1 Silent JHU_1.2330686 1 2330687 [T/C] NM_007033 RER1 Silent variant.313 1 2330953 [A/G] NM_007033 RER1 EXON Missense_D96N rs55912310 1 2332038 [A/G] NM_007033 RER1 Silent 1:2332310-CA 1 2332310 [A/C] NM_007033 RER1 EXON Missense_L101I rs117152531 1 2333288 [A/G] NM_007033 RER1 Silent 1:2333651-CT 1 2333651 [T/C] NM_007033 RER1 EXON Missense_A124V 1:2333712-GA 1 2333712 [A/G] NM_007033 RER1 EXON Synonymous_P144P 1:2337209-CT 1 2337209 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_R326H,Missense_R346H exm5583 1 2337219 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_R323W,Missense_R343W 1:2337254-CT 1 2337254 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_R311Q,Missense_R331Q JHU_1.2337276 1 2337277 [T/C] NM_002617,NM_153818 PEX10,PEX10 Silent,Silent rs3820009 1 2337332 [A/G] NM_002617,NM_153818 PEX10,PEX10 Silent,Silent 1:2337939-GA 1 2337939 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_A299V,Missense_A319V Variant47856 1 2337954 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Nonsense_W294X,Nonsense_W314X 1:2337965-C-G 1 2337965 [G/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_H290Q,Missense_H310Q rs35082957 1 2337992 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Synonymous_R281R,Synonymous_R301R exm5594 1 2338015 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_T274A,Missense_T294A Variant47859 1 2338019 [A/C] NM_002617,NM_153818 PEX10,PEX10 EXON Synonymous_L272L,Synonymous_L292L rs144440263 1 2338019 [A/C] NM_002617,NM_153818 PEX10,PEX10 EXON Synonymous_L272L,Synonymous_L292L Variant15857 1 2338020 [I/D] NM_002617,NM_153818 PEX10,PEX10 EXON 1:2338183-AG 1 2338183 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_L251P,Missense_L271P Variant47860 1 2338205 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Nonsense_R244X,Nonsense_R264X 1:2338211-GA 1 2338211 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_R242W,Missense_R262W exm5606 1 2338223 [C/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_G238R,Missense_G258R rs61750435 1 2338230 [I/D] NM_002617,NM_153818 PEX10,PEX10 EXON rs139345520 1 2338250 [C/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_V229L,Missense_V249L 1:2338324-CT 1 2338324 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_R204H,Missense_R224H rs2494427 1 2338569 [T/C] NM_002617,NM_153818 PEX10,PEX10 Silent,Silent rs2494429 1 2339395 [A/G] NM_002617,NM_153818 PEX10,PEX10 Silent,Silent rs76232811 1 2339609 [A/G] NM_002617,NM_153818 PEX10,PEX10 Silent,Silent Variant47862 1 2339890 [T/C] NM_002617,NM_153818 PEX10,PEX10 Silent,Silent exm5618 1 2339908 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_L195F,Missense_L195F 1:2340056-CT 1 2340056 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_M145I,Missense_M145I 1:2340150-TC 1 2340150 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_E114G,Missense_E114G exm5631 1 2340159 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_L111P,Missense_L111P 1:2340211-CT 1 2340211 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_V94M,Missense_V94M Variant47863 1 2340258 [T/C] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_Q78R,Missense_Q78R rs375032738 1 2340302 [A/G] NM_002617,NM_153818 PEX10,PEX10 Silent,Silent JHU_1.2341059 1 2341060 [T/C] NM_002617,NM_153818 PEX10,PEX10 Silent,Silent 1:2341887-GA 1 2341887 [A/G] NM_002617,NM_153818 PEX10,PEX10 EXON Missense_A39V,Missense_A39V JHU_1.2346098 1 2346099 [C/G] JHU_1.2346170 1 2346171 [T/C] JHU_1.2350039 1 2350040 [A/G] JHU_1.2350177 1 2350178 [A/G] rs371271914 1 2350511 [T/C] JHU_1.2350869 1 2350870 [A/G] rs3935659 1 2351699 [T/C] rs12731309 1 2352146 [T/C] JHU_1.2355222 1 2355223 [T/C] rs12118145 1 2355223 [T/C] JHU_1.2355399 1 2355400 [A/G] JHU_1.2355744 1 2355745 [T/C] rs11578895 1 2360820 [G/C] rs2494641 1 2362827 [T/C] JHU_1.2363608 1 2363609 [A/G] JHU_1.2365328 1 2365329 [A/G] JHU_1.2365884 1 2365885 [T/A] rs4648843 1 2366316 [T/C] rs61763906 1 2366517 [A/G] JHU_1.2366610 1 2366611 [A/G] 1:2436429del122 1 2367869 [D/I] rs35845624 1 2368223 [T/C] rs2494439 1 2368706 [T/C] JHU_1.2368774 1 2368775 [T/C] JHU_1.2369020 1 2369021 [T/C] rs80047719 1 2369375 [A/G] rs59220895 1 2369391 [C/G] JHU_1.2371846 1 2371847 [T/C] rs6688934 1 2372397 [A/G] JHU_1.2372857 1 2372858 [T/C] rs74049259 1 2372940 [T/C] rs6659405 1 2373089 [T/G] rs12563838 1 2374120 [T/C] JHU_1.2374848 1 2374849 [A/C] JHU_1.2378237 1 2378238 [T/C] JHU_1.2383487 1 2383488 [T/C] rs117959159 1 2384356 [T/G] rs34672163 1 2386878 [A/G] rs4648845 1 2387101 [T/C] rs4648846 1 2389152 [A/G] rs77381203 1 2390133 [T/C] rs57096636 1 2390615 [A/G] rs74049262 1 2390650 [A/G] JHU_1.2397337 1 2397338 [T/C] rs72848508 1 2399402 [G/C] NM_001303012 PLCH2 Silent JHU_1.2404306 1 2404307 [T/C] NM_001303012 PLCH2 Silent JHU_1.2404320 1 2404321 [A/C] NM_001303012 PLCH2 Silent JHU_1.2404425 1 2404426 [G/C] NM_001303012 PLCH2 Silent JHU_1.2404995 1 2404996 [T/C] NM_001303012 PLCH2 Silent exm5658 1 2408058 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_R11W 1:2410049-GA 1 2410049 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_E60K,Missense_E107K,Missense_E87K 1:2411229-CT 1 2411229 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_R83C,Missense_R130C,Missense_R110C exm5674 1 2411250 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_D90N,Missense_D137N,Missense_D117N 1:2411254-CA 1 2411254 [A/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_P91H,Missense_P138H,Missense_P118H 1:2411322-GA 1 2411322 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_E114K,Missense_E161K,Missense_E141K 1:2411353-GA 1 2411353 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_R124H,Missense_R171H,Missense_R151H 1:2411368-GA 1 2411368 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_G129D,Missense_G176D,Missense_G156D exm5682 1 2411376 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_D132N,Missense_D179N,Missense_D159N rs145887798 1 2413621 [G/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent rs114637672 1 2415108 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent exm5691 1 2415891 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_A190V,Missense_A237V,Missense_A217V exm5697 1 2415977 [G/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_L219V,Missense_L266V,Missense_L246V 1:2416010-CA 1 2416010 [A/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_H230N,Missense_H277N,Missense_H257N rs114871065 1 2417930 [G/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent 1:2418350-CT 1 2418350 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_A247V,Missense_A294V,Missense_A274V exm5703 1 2418414 [C/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_K268N,Missense_K315N,Missense_K295N 1:2418438-TG 1 2418438 [T/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_D276E,Missense_D323E,Missense_D303E 1:2418635-CT 1 2418635 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_P285S,Missense_P332S,Missense_P312S JHU_1.2418889 1 2418890 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent rs10910082 1 2418935 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent rs78283022 1 2419415 [G/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent exm2250942 1 2420787 [T/A] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Synonymous_P432P,Synonymous_P479P,Synonymous_P459P 1:2422631-GA 1 2422631 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_A479T,Missense_A526T,Missense_A506T 1:2422650-GA 1 2422650 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_R485H,Missense_R532H,Missense_R512H 1:2422731-TC 1 2422731 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_F512S,Missense_F559S,Missense_F539S rs12091002 1 2423363 [G/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent JHU_1.2424715 1 2424716 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent rs147712931 1 2424831 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent rs72644648 1 2426047 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent 1:2426310-GA 1 2426310 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_D532N,Missense_D579N,Missense_D559N exm5742 1 2426313 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_V533M,Missense_V580M,Missense_V560M 1:2426383-GA 1 2426383 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_R556H,Missense_R603H,Missense_R583H 1:2426960-GA 1 2426960 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_V569M,Missense_V616M,Missense_V596M 1:2427267-T-C 1 2427267 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent 1:2428048-CT 1 2428048 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_A586V,Missense_A633V,Missense_A613V exm2232890 1 2428054 [T/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_R588L,Missense_R635L,Missense_R615L 1:2428267-CT 1 2428267 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_A618V,Missense_A665V,Missense_A645V 1:2428967-CT 1 2428967 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_R688W,Missense_R735W,Missense_R715W 1:2428997-AG 1 2428997 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_S698G,Missense_S745G,Missense_S725G 1:2429014-CA 1 2429014 [A/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Nonsense_C703X,Nonsense_C750X,Nonsense_C730X 1:2429021-GA 1 2429021 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_V706I,Missense_V753I,Missense_V733I 1:2430079-GA 1 2430079 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_R754H,Missense_R801H,Missense_R781H 1:2430561-GT 1 2430561 [T/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_V798L,Missense_V845L,Missense_V825L 1:2430629-CA 1 2430629 [A/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_F820L,Missense_F867L,Missense_F847L 1:2431108-GA 1 2431108 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_M843I,Missense_M890I,Missense_M870I 1:2431154-GA 1 2431154 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_G859S,Missense_G906S,Missense_G886S chr1_2434173 1 2434173 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_G1068D,Silent,Silent 1:2434239-GA 1 2434239 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Missense_R1090H,Silent,Silent 1:2434421-GA 1 2434421 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent 1:2434460-GT 1 2434460 [T/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent 1:2434523-TC 1 2434523 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 Silent,Silent,Silent exm5835 1 2435556 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_R1052Q 1:2435648-CT 1 2435648 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_R1083W 1:2435694-GA 1 2435694 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_G1098E exm5841 1 2435738 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_A1113T exm5844 1 2435768 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_D1123N 1:2435787-CT 1 2435787 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_P1129L 1:2435812-TG 1 2435812 [T/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_C1137W 1:2435831-TTCC-T 1 2435831 [D/I] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON exm5861 1 2436024 [A/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_A1208D 1:2436066-GA 1 2436066 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_R1222K 1:2436130-TG-T 1 2436130 [D/I] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON 1:2436317-GCTCA-G 1 2436317 [I/D] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON 1:2436348-CT 1 2436348 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_T1316M 1:2436618-CT 1 2436618 [T/C] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_A1406V 1:2436645-GA 1 2436645 [A/G] NM_001303012,NM_001303013,NM_014638 PLCH2,PLCH2,PLCH2 EXON Silent,Silent,Missense_R1415H exm2250954 1 2440415 [A/G] NM_018216 PANK4 EXON Synonymous_H731H exm5910 1 2440415 [A/G] NM_018216 PANK4 EXON Synonymous_H731H 1:2441313-CA 1 2441313 [A/C] NM_018216 PANK4 EXON Missense_C699F exm5918 1 2441358 [T/C] NM_018216 PANK4 EXON Missense_Q684R 1:2441529-GA 1 2441529 [A/G] NM_018216 PANK4 EXON Missense_A669V exm5932 1 2443106 [A/G] NM_018216 PANK4 EXON Missense_P582S JHU_1.2443947 1 2443948 [A/G] NM_018216 PANK4 Silent 1:2444469-GA 1 2444469 [A/G] NM_018216 PANK4 EXON Missense_R529W rs2247308 1 2445406 [A/G] NM_018216 PANK4 Silent chr1_2445824 1 2445824 [T/C] NM_018216 PANK4 EXON Missense_N486D exm5956 1 2445838 [T/C] NM_018216 PANK4 EXON Missense_R481Q exm5974 1 2447128 [T/C] NM_018216 PANK4 EXON Missense_E416G rs117643120 1 2448127 [A/G] NM_018216 PANK4 Silent exm5982 1 2449629 [T/G] NM_018216 PANK4 EXON Missense_P398T 1:2449981-GA 1 2449981 [A/G] NM_018216 PANK4 EXON Missense_A364V 1:2449985-CA 1 2449985 [A/C] NM_018216 PANK4 EXON Nonsense_G363X indel.338 1 2450734 [D/I] NM_018216 PANK4 EXON exm6004 1 2451257 [G/C] NM_018216 PANK4 EXON Missense_S279W 1:2451264-CA 1 2451264 [A/C] NM_018216 PANK4 EXON Missense_G277W 1:2451297-CT 1 2451297 [T/C] NM_018216 PANK4 EXON Missense_G266R 1:2451329-CA 1 2451329 [A/C] NM_018216 PANK4 EXON Missense_R255L 1:2451352-GT 1 2451352 [T/G] NM_018216 PANK4 EXON Missense_H247Q 1:2451369-CA 1 2451369 [A/C] NM_018216 PANK4 EXON Missense_A242S chr1_2451781 1 2451781 [T/C] NM_018216 PANK4 EXON Missense_A227T exm6013 1 2451846 [A/G] NM_018216 PANK4 EXON Missense_T205M 1:2452190-TC 1 2452190 [T/C] NM_018216 PANK4 EXON Missense_N193S exm6017 1 2452248 [T/C] NM_018216 PANK4 EXON Missense_D174N exm2277034 1 2452744 [T/C] NM_018216 PANK4 EXON Missense_R73H exm6031 1 2452750 [A/G] NM_018216 PANK4 EXON Missense_T71I rs12073504 1 2452979 [C/G] NM_018216 PANK4 Silent exm6036 1 2453162 [T/C] NM_018216 PANK4 EXON Missense_G68R rs78763061 1 2453163 [A/G] NM_018216 PANK4 EXON Synonymous_S67S JHU_1.2453757 1 2453758 [G/C] NM_018216 PANK4 Silent JHU_1.2454160 1 2454161 [T/A] NM_018216 PANK4 Silent rs2494625 1 2454709 [T/C] NM_018216 PANK4 Silent rs10910086 1 2455633 [G/C] NM_018216 PANK4 Silent rs58033434 1 2456954 [C/G] NM_018216 PANK4 Silent exm2250972 1 2461316 [T/C] NM_001010926 HES5 EXON Synonymous_E63E 1:2461351-GA 1 2461351 [A/G] NM_001010926 HES5 EXON Missense_P52S JHU_1.2462737 1 2462738 [T/G] rs11584295 1 2465329 [A/G] JHU_1.2466376 1 2466377 [T/C] JHU_1.2466452 1 2466453 [A/G] JHU_1.2469835 1 2469836 [G/C] JHU_1.2469966 1 2469967 [A/G] JHU_1.2470668 1 2470669 [T/C] rs2495368 1 2473258 [A/G] JHU_1.2474681 1 2474682 [T/C] rs76869276 1 2476879 [A/G] 1:2480367-T-C 1 2480367 [T/C] JHU_1.2481701 1 2481702 [A/G] NR_037844 TNFRSF14-AS1 EXON Silent rs7531865 1 2483840 [G/C] NR_037844 TNFRSF14-AS1 EXON Silent 1:2488107-GA 1 2488107 [A/G] NR_037844,NM_001297605,NM_003820 TNFRSF14-AS1,TNFRSF14,TNFRSF14 EXON Silent,Missense_E2K,Missense_E2K 1:2488608-T-C 1 2488608 [T/C] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 Silent,Silent 1:2488929-T-C 1 2488929 [T/C] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 Silent,Silent rs180732608 1 2490210 [T/C] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 Silent,Silent 1:2491273-CT 1 2491273 [T/C] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Missense_R106C,Missense_R106C 1:2491280-GT 1 2491280 [T/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Missense_S108I,Missense_S108I 1:2491366-GA 1 2491366 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Missense_A137T,Missense_A137T exm6115 1 2491400 [T/A] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Missense_Q148L,Missense_Q148L exm6121 1 2492123 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Missense_G174E,Missense_G174E rs2234165 1 2492276 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 Silent,Silent Variant37627 1 2492930 [T/C] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 Silent,Silent 1:2492947-AG-A 1 2492947 [D/I] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 exm2251018 1 2493130 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Synonymous_T190T exm6129 1 2493158 [T/C] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Missense_H200Y 1:2494310-TC 1 2494310 [T/C] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Missense_V234A exm6141 1 2494330 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Missense_V241I rs2234167 1 2494330 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Missense_V241I chr1_2494605 1 2494605 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Missense_E249K 1:2494623-AG 1 2494623 [A/G] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Missense_I255V 1:2494645-CT 1 2494645 [T/C] NM_001297605,NM_003820 TNFRSF14,TNFRSF14 EXON Silent,Missense_P262L rs10910092 1 2501516 [A/G] NR_121638 LOC100996583 Silent JHU_1.2502667 1 2502668 [T/C] NR_121638 LOC100996583 Silent rs6667605 1 2502780 [T/C] NR_121638 LOC100996583 Silent rs142013095 1 2503476 [A/C] NR_121638 LOC100996583 Silent rs118187374 1 2504290 [T/C] NR_121638 LOC100996583 Silent JHU_1.2506286 1 2506287 [A/G] NR_121638 LOC100996583 Silent rs80067761 1 2507442 [T/C] NR_121638 LOC100996583 Silent rs77966379 1 2512361 [A/G] NR_121638 LOC100996583 Silent rs72644674 1 2512456 [T/C] NR_121638 LOC100996583 Silent exm-rs734999 1 2513216 [T/C] NR_121638 LOC100996583 Silent rs734999 1 2513216 [T/C] NR_121638 LOC100996583 Silent 1:2518320-CA 1 2518320 [A/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:2518322-GA 1 2518322 [A/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:2518359-GA 1 2518359 [A/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_C12Y,Missense_C12Y,Missense_C12Y,Missense_C12Y,Missense_C12Y,Missense_C12Y 1:2518374-CT 1 2518374 [T/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_A17V,Missense_A17V,Missense_A17V,Missense_A17V,Missense_A17V,Missense_A17V 1:2518382-GA 1 2518382 [A/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_G20R,Missense_G20R,Missense_G20R,Missense_G20R,Missense_G20R,Missense_G20R 1:2518387-GT 1 2518387 [T/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_E21D,Missense_E21D,Missense_E21D,Missense_E21D,Missense_E21D,Missense_E21D 1:2518593-GT 1 2518593 [T/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_G43W,Missense_G43W,Missense_G43W,Missense_G43W,Missense_G43W,Missense_G43W 1:2518608-CA 1 2518608 [A/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_R48S,Missense_R48S,Missense_R48S,Missense_R48S,Missense_R48S,Missense_R48S exm6165 1 2518683 [T/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_P73S,Missense_P73S,Missense_P73S,Missense_P73S,Missense_P73S,Missense_P73S 1:2518688-GT 1 2518688 [T/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_E74D,Missense_E74D,Missense_E74D,Missense_E74D,Missense_E74D,Missense_E74D 1:2518689-GT 1 2518689 [T/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_A75S,Missense_A75S,Missense_A75S,Missense_A75S,Missense_A75S,Missense_A75S 1:2518728-GT 1 2518728 [T/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_A88S,Missense_A88S,Missense_A88S,Missense_A88S,Missense_A88S,Missense_A88S 1:2519810-CT 1 2519810 [T/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_A119V,Silent,Silent,Silent,Silent,Silent 1:2519851-CA 1 2519851 [A/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_P133T,Missense_P115T,Missense_P115T,Missense_P115T,Missense_P115T,Missense_P115T 1:2519890-A-AAGGTG 1 2519890 [D/I] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON exm6173 1 2519975 [A/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Silent,Silent,Silent,Missense_P131T,Silent,Silent exm6175 1 2519989 [T/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_A147S,Missense_A129S,Silent,Missense_R135S,Silent,Missense_A129S 1:2520411-GA 1 2520411 [A/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Missense_V189I,Missense_V171I,Missense_V134I,Missense_V167I,Missense_V135I,Missense_R160H exm6185 1 2520428 [A/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Synonymous_I194I,Synonymous_I176I,Synonymous_I139I,Synonymous_I172I,Synonymous_I140I,Missense_P166T 1:2520473-GA 1 2520473 [A/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B EXON Silent,Silent,Synonymous_P209P,Synonymous_P191P,Synonymous_P154P,Synonymous_P187P,Synonymous_P155P,Missense_A181T 1:2522472-CT 1 2522472 [T/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738,NM_033467 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,MMEL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R766Q exm6198 1 2522473 [A/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738,NM_033467 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,MMEL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R766W 1:2522475-GT 1 2522475 [T/G] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738,NM_033467 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,MMEL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A765D 1:2522500-CT 1 2522500 [T/C] NR_036637,NR_036638,NM_001195736,NM_152371,NM_001195741,NM_001195737,NM_001195740,NM_001195738,NM_033467 FAM213B,FAM213B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,PRXL2B,MMEL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A757T exm6209 1 2523015 [A/G] NM_033467 MMEL1 EXON Missense_H741Y rs141794028 1 2523015 [A/G] NM_033467 MMEL1 EXON Missense_H741Y exm6212 1 2523053 [T/C] NM_033467 MMEL1 EXON Missense_R728Q 1:2523386-TGAA-T 1 2523386 [I/D] NM_033467 MMEL1 EXON exm6216 1 2523412 [T/C] NM_033467 MMEL1 EXON Missense_D708N exm6217 1 2523418 [T/C] NM_033467 MMEL1 EXON Missense_G706S rs141763894 1 2523418 [T/C] NM_033467 MMEL1 EXON Missense_G706S exm6219 1 2523431 [T/G] NM_033467 MMEL1 EXON Missense_D701E exm6220 1 2524105 [T/G] NM_033467 MMEL1 EXON Missense_Q686K exm6222 1 2524107 [T/C] NM_033467 MMEL1 EXON Missense_R685Q exm6224 1 2524128 [A/G] NM_033467 MMEL1 EXON Missense_I678T exm6231 1 2524295 [A/G] NM_033467 MMEL1 EXON Missense_W660R exm6234 1 2524402 [T/C] NM_033467 MMEL1 EXON Missense_R624Q exm6237 1 2525259 [T/C] NM_033467 MMEL1 EXON Missense_D621N exm6243 1 2525332 [A/C] NM_033467 MMEL1 EXON Missense_K596N exm6253 1 2526245 [T/A] NM_033467 MMEL1 EXON Nonsense_K558X JHU_1.2526335 1 2526336 [T/C] NM_033467 MMEL1 Silent rs114330159 1 2526336 [T/C] NM_033467 MMEL1 Silent exm6264 1 2526746 [A/G] NM_033467 MMEL1 EXON Missense_M518T rs3748816 1 2526746 [A/G] NM_033467 MMEL1 EXON Missense_M518T rs141663399 1 2526936 [A/G] NM_033467 MMEL1 Silent 1:2527464-TC 1 2527464 [T/C] NM_033467 MMEL1 EXON Missense_K495R rs2843401 1 2528133 [T/C] NM_033467 MMEL1 Silent JHU_1.2529551 1 2529552 [A/G] NM_033467 MMEL1 Silent 1:2529669-CT 1 2529669 [T/C] NM_033467 MMEL1 EXON Missense_D417N exm6296 1 2530169 [T/G] NM_033467 MMEL1 EXON Missense_P368T indel.358 1 2530212 [D/I] NM_033467 MMEL1 EXON 1:2530216-GA 1 2530216 [A/G] NM_033467 MMEL1 EXON Missense_T352I variant.359 1 2530219 [T/C] NM_033467 MMEL1 EXON Nonsense_W351X JHU_1.2531411 1 2531412 [T/A] NM_033467 MMEL1 Silent rs111476578 1 2533341 [T/C] NM_033467 MMEL1 Silent rs150660153 1 2535397 [C/G] NM_033467 MMEL1 EXON Missense_E323Q exm6301 1 2535397 [C/G] NM_033467 MMEL1 EXON Missense_E323Q exm6305 1 2535632 [T/C] NM_033467 MMEL1 EXON Missense_Q302R exm6307 1 2535648 [C/G] NM_033467 MMEL1 EXON Missense_D297H exm6311 1 2535717 [A/G] NM_033467 MMEL1 EXON Missense_R274W exm6317 1 2537041 [T/G] NM_033467 MMEL1 EXON Missense_M258L JHU_1.2537412 1 2537413 [T/C] NM_033467 MMEL1 Silent exm6320 1 2537700 [T/C] NM_033467 MMEL1 EXON Missense_R246Q exm6322 1 2537748 [T/C] NM_033467 MMEL1 EXON Missense_R230H exm6336 1 2540795 [T/C] NM_033467 MMEL1 EXON Missense_R173H 1:2540858-GA 1 2540858 [A/G] NM_033467 MMEL1 EXON Missense_A152V exm6340 1 2541133 [T/C] NM_033467 MMEL1 EXON Missense_D144N exm6343 1 2541189 [T/C] NM_033467 MMEL1 EXON Missense_R125Q exm6347 1 2541237 [A/G] NM_033467 MMEL1 EXON Missense_T109M exm6350 1 2541268 [T/C] NM_033467 MMEL1 EXON Missense_A99T exm6351 1 2541269 [A/G] NM_033467 MMEL1 EXON Synonymous_A98A 1:2542724-TC 1 2542724 [T/C] NM_033467 MMEL1 EXON Missense_I96M Variant37628 1 2542725 [A/G] NM_033467 MMEL1 EXON Missense_I96T exm6352 1 2542778 [T/C] NM_033467 MMEL1 EXON Synonymous_G78G 1:2543597-CA 1 2543597 [A/C] NM_033467 MMEL1 EXON Missense_E67D 1:2543604-TAAG-T 1 2543604 [I/D] NM_033467 MMEL1 EXON rs142031934 1 2544232 [A/G] NM_033467 MMEL1 Silent rs10752748 1 2544640 [A/G] NM_033467 MMEL1 Silent rs12117343 1 2551785 [T/C] NM_033467 MMEL1 Silent rs11590198 1 2551900 [A/G] NM_033467 MMEL1 Silent exm-rs3890745 1 2553624 [T/C] NM_033467 MMEL1 Silent JHU_1.2553656 1 2553657 [T/C] NM_033467 MMEL1 Silent rs76949917 1 2554045 [T/C] NM_033467 MMEL1 Silent exm6361 1 2560808 [A/G] NM_033467 MMEL1 EXON Missense_A39V exm6362 1 2560818 [T/C] NM_033467 MMEL1 EXON Missense_V36M rs191484318 1 2561847 [T/G] NM_033467 MMEL1 Silent 1:2561955-C-G 1 2561955 [G/C] NM_033467 MMEL1 Silent kgp10938344 1 2564465 [T/C] NM_033467 MMEL1 EXON Silent 1:2572842-GA 1 2572842 [A/G] NM_001242672 TTC34 EXON Missense_R556W 1:2573234-CA 1 2573234 [A/C] NM_001242672 TTC34 EXON Missense_C425F JHU_1.2575095 1 2575096 [G/C] NM_001242672 TTC34 Silent rs142706819 1 2575297 [A/C] NM_001242672 TTC34 Silent 1:2575872-CT 1 2575872 [T/C] NM_001242672 TTC34 EXON Missense_R335H 1:2576881-CT 1 2576881 [T/C] NM_001242672 TTC34 EXON Missense_R270Q rs58546948 1 2577613 [T/C] NM_001242672 TTC34 Silent JHU_1.2583236 1 2583237 [T/C] NM_001242672 TTC34 Silent rs115187098 1 2583272 [T/C] NM_001242672 TTC34 Silent JHU_1.2632199 1 2632200 [G/C] NM_001242672 TTC34 Silent 1:2684840-A-T 1 2684840 [T/A] NM_001242672 TTC34 Silent rs11590361 1 2697542 [A/T] NM_001242672 TTC34 Silent 1:2700201-CT 1 2700201 [T/C] NM_001242672 TTC34 EXON Missense_A214T 1:2700275-CA 1 2700275 [A/C] NM_001242672 TTC34 EXON Missense_G189V JHU_1.2701574 1 2701575 [T/C] NM_001242672 TTC34 Silent chr1_2706096 1 2706096 [T/C] NM_001242672 TTC34 EXON Missense_E21K JHU_1.2707709 1 2707710 [A/G] rs4648356 1 2709164 [A/C] rs2377041 1 2713327 [T/C] rs150013110 1 2721925 [T/C] rs4648360 1 2723345 [T/C] rs180910637 1 2724176 [A/C] 1:2726377-C-T 1 2726377 [T/C] rs60513129 1 2729251 [T/C] rs76152773 1 2732150 [T/C] rs56820613 1 2735418 [A/G] JHU_1.2735972 1 2735973 [T/G] JHU_1.2736382 1 2736383 [A/G] JHU_1.2737609 1 2737610 [T/C] JHU_1.2737701 1 2737702 [T/G] rs150010995 1 2740610 [T/C] JHU_1.2742533 1 2742534 [T/C] JHU_1.2742597 1 2742598 [T/G] JHU_1.2746065 1 2746066 [G/C] rs1001620 1 2746066 [G/C] JHU_1.2749804 1 2749805 [A/G] rs144897676 1 2750926 [A/G] rs77056353 1 2751560 [T/C] rs7511879 1 2752265 [A/G] JHU_1.2752692 1 2752693 [T/C] JHU_1.2752829 1 2752830 [T/C] JHU_1.2753226 1 2753227 [A/C] JHU_1.2754405 1 2754406 [A/G] JHU_1.2756210 1 2756211 [T/G] rs4648384 1 2756621 [A/C] rs114792354 1 2757099 [T/C] rs113563367 1 2757103 [T/C] JHU_1.2757536 1 2757537 [T/C] rs1456460 1 2761863 [T/G] rs61763660 1 2762910 [T/C] JHU_1.2762909 1 2762910 [T/C] JHU_1.2764998 1 2764999 [A/G] JHU_1.2766290 1 2766291 [T/C] JHU_1.2766390 1 2766391 [A/G] JHU_1.2767308 1 2767309 [T/C] rs117463163 1 2773148 [T/C] JHU_1.2773428 1 2773429 [T/C] JHU_1.2774380 1 2774381 [A/G] rs12567869 1 2774381 [A/G] JHU_1.2775530 1 2775531 [A/G] JHU_1.2775715 1 2775716 [A/G] 1:2859559_2859560ins 1 2776124 [D/I] JHU_1.2776176 1 2776177 [A/G] JHU_1.2776318 1 2776319 [T/C] rs144073934 1 2776736 [T/C] JHU_1.2776760 1 2776761 [G/C] JHU_1.2776776 1 2776777 [T/C] 1:2777204-T-C 1 2777204 [T/C] rs78793333 1 2778380 [A/G] JHU_1.2778765 1 2778766 [T/C] rs12409348 1 2779043 [T/C] JHU_1.2779480 1 2779481 [T/C] rs118103097 1 2781390 [T/C] rs142834923 1 2782025 [A/C] JHU_1.2782209 1 2782210 [T/G] JHU_1.2782978 1 2782979 [A/G] rs897636 1 2784092 [A/G] JHU_1.2784558 1 2784559 [A/G] rs2124661 1 2789906 [G/C] rs116339523 1 2792472 [T/C] rs150722580 1 2792845 [A/C] rs6673012 1 2794250 [A/C] rs10909793 1 2794551 [T/G] rs10797342 1 2797856 [T/C] rs142288595 1 2800086 [T/C] rs4255325 1 2801396 [T/C] JHU_1.2801395 1 2801396 [T/C] rs2045333 1 2801459 [T/C] JHU_1.2803799 1 2803800 [T/C] rs116207797 1 2804332 [A/G] JHU_1.2804331 1 2804332 [A/G] JHU_1.2804902 1 2804903 [A/C] JHU_1.2805027 1 2805028 [T/C] rs144345975 1 2805193 [T/C] rs74047630 1 2806201 [T/C] JHU_1.2807067 1 2807068 [A/G] rs115267687 1 2811402 [A/C] rs10909834 1 2812244 [G/C] rs116320789 1 2812252 [T/C] 1:2813694-G-A 1 2813694 [A/G] JHU_1.2813741 1 2813742 [A/G] JHU_1.2816717 1 2816718 [T/C] rs2842910 1 2817421 [T/C] JHU_1.2818216 1 2818217 [A/C] JHU_1.2818713 1 2818714 [T/A] rs2842912 1 2818887 [T/G] JHU_1.2820597 1 2820598 [T/G] rs17384388 1 2820861 [A/G] rs114116939 1 2821050 [G/C] rs2842915 1 2821868 [T/G] JHU_1.2822589 1 2822590 [T/C] 1:2822835-T-G 1 2822835 [T/G] JHU_1.2825169 1 2825170 [T/C] JHU_1.2825383 1 2825384 [A/G] JHU_1.2826368 1 2826369 [A/G] rs76287201 1 2828523 [T/C] rs2842920 1 2828820 [T/C] JHU_1.2830346 1 2830347 [A/G] JHU_1.2832625 1 2832626 [T/G] rs7340016 1 2833332 [A/G] rs1563468 1 2833743 [T/C] rs2842926 1 2834025 [A/G] rs74049806 1 2836032 [T/C] rs2606410 1 2836099 [T/C] rs116641419 1 2836255 [A/G] rs55855166 1 2837444 [A/G] rs4997491 1 2837574 [T/C] JHU_1.2838667 1 2838668 [T/C] rs4648432 1 2839757 [A/C] JHU_1.2840969 1 2840970 [A/G] rs2045331 1 2842270 [A/G] JHU_1.2842482 1 2842483 [T/C] JHU_1.2845173 1 2845174 [A/G] rs79922096 1 2845573 [T/G] JHU_1.2847519 1 2847520 [T/C] JHU_1.2848255 1 2848256 [A/G] rs35880479 1 2848256 [A/G] rs12403214 1 2849190 [T/G] rs72853346 1 2849972 [T/C] rs4648441 1 2850181 [T/G] rs10797368 1 2852707 [T/C] rs140270189 1 2853199 [A/G] rs16823228 1 2853759 [A/G] JHU_1.2855236 1 2855237 [A/G] rs74685152 1 2859195 [A/G] rs115388989 1 2860386 [T/C] rs2925499 1 2860931 [T/C] JHU_1.2861391 1 2861392 [T/C] JHU_1.2861438 1 2861439 [A/G] JHU_1.2861574 1 2861575 [A/G] rs7539511 1 2862320 [T/G] JHU_1.2863091 1 2863092 [A/G] rs111911940 1 2867830 [A/T] JHU_1.2868891 1 2868892 [T/C] rs2606418 1 2870850 [A/G] JHU_1.2874000 1 2874001 [A/G] rs10909845 1 2876525 [T/C] JHU_1.2877195 1 2877196 [T/C] rs2495271 1 2878323 [T/C] JHU_1.2879459 1 2879460 [C/G] JHU_1.2879738 1 2879739 [A/G] rs12728758 1 2879739 [A/G] JHU_1.2881288 1 2881289 [T/C] rs74047565 1 2883142 [A/G] rs2485945 1 2883932 [T/C] JHU_1.2886355 1 2886356 [A/G] JHU_1.2886388 1 2886389 [T/C] JHU_1.2886465 1 2886466 [T/C] JHU_1.2886902 1 2886903 [A/G] JHU_1.2886948 1 2886949 [T/C] rs117105675 1 2887220 [T/G] rs60542493 1 2887855 [G/C] rs112151667 1 2887935 [A/G] rs12044030 1 2889577 [T/C] rs115565669 1 2891691 [A/C] rs191526103 1 2894697 [T/G] rs56877975 1 2894910 [A/G] rs34183832 1 2895553 [T/C] JHU_1.2897454 1 2897455 [T/C] JHU_1.2897875 1 2897876 [A/G] JHU_1.2898558 1 2898559 [A/C] rs6681741 1 2898960 [T/C] rs1572657 1 2902128 [T/C] rs149410654 1 2903274 [C/G] rs187770794 1 2904226 [A/G] rs4298674 1 2909287 [T/C] JHU_1.2914287 1 2914288 [G/C] JHU_1.2917334 1 2917335 [A/G] rs12025260 1 2917377 [T/C] JHU_1.2917459 1 2917460 [C/G] JHU_1.2917471 1 2917472 [A/G] rs144911372 1 2917975 [T/A] rs10909860 1 2919175 [A/G] rs72855062 1 2919845 [T/C] rs12022429 1 2919942 [A/G] rs12562637 1 2924666 [T/C] rs61763644 1 2925662 [T/C] JHU_1.2927623 1 2927624 [T/C] rs72855080 1 2928545 [A/G] rs191702220 1 2929834 [T/C] rs6691208 1 2931327 [A/C] JHU_1.2934730 1 2934731 [A/G] rs17389878 1 2934868 [A/G] rs10752732 1 2936480 [T/C] rs117393332 1 2937299 [A/G] JHU_1.2937430 1 2937431 [A/G] rs4576609 1 2938265 [T/C] NM_080431 ACTRT2 EXON Synonymous_H5H exm6380 1 2938266 [A/G] NM_080431 ACTRT2 EXON Missense_A6T 1:2938318-CT 1 2938318 [T/C] NM_080431 ACTRT2 EXON Missense_A23V exm6385 1 2938395 [A/G] NM_080431 ACTRT2 EXON Missense_A49T 1:2938408-CAGA-C 1 2938408 [I/D] NM_080431 ACTRT2 EXON 1:2938480-GA 1 2938480 [A/G] NM_080431 ACTRT2 EXON Missense_R77H exm6394 1 2938506 [A/G] NM_080431 ACTRT2 EXON Missense_V86M chr1_2938631 1 2938631 [A/G] NM_080431 ACTRT2 EXON Missense_M127I exm6413 1 2938800 [A/G] NM_080431 ACTRT2 EXON Missense_V184M 1:2938855-AG 1 2938855 [A/G] NM_080431 ACTRT2 EXON Missense_H202R exm6419 1 2938887 [A/G] NM_080431 ACTRT2 EXON Missense_V213M exm6421 1 2938924 [T/G] NM_080431 ACTRT2 EXON Missense_L225W 1:2938941-CT 1 2938941 [T/C] NM_080431 ACTRT2 EXON Missense_L231F exm6428 1 2938989 [A/G] NM_080431 ACTRT2 EXON Missense_G247R 1:2939155-CT 1 2939155 [T/C] NM_080431 ACTRT2 EXON Missense_S302L 1:2939191-GA 1 2939191 [A/G] NM_080431 ACTRT2 EXON Missense_R314Q exm6439 1 2939260 [A/G] NM_080431 ACTRT2 EXON Missense_R337Q rs12564513 1 2939409 [T/G] NM_080431 ACTRT2 EXON Silent rs7412983 1 2943183 [A/C] rs116305888 1 2943546 [T/G] rs12033336 1 2943908 [T/C] rs2142569 1 2944527 [A/G] rs7527711 1 2949736 [A/G] JHU_1.2949998 1 2949999 [G/C] JHU_1.2954030 1 2954031 [A/G] JHU_1.2954060 1 2954061 [A/G] rs117711054 1 2957133 [G/C] rs12724379 1 2958856 [A/C] rs717795 1 2970464 [T/C] rs56069604 1 2971452 [T/C] rs76425763 1 2975328 [A/G] rs59243365 1 2979184 [A/G] NR_015440 LINC00982 EXON Silent rs187995368 1 2980766 [T/C] NR_015440,NR_024371 LINC00982,LINC00982 EXON Silent,Silent JHU_1.2982862 1 2982863 [A/G] NR_015440,NR_024371 LINC00982,LINC00982 Silent,Silent JHU_1.2983387 1 2983388 [T/C] NR_015440,NR_024371 LINC00982,LINC00982 Silent,Silent rs2297829 1 2984087 [A/C] NR_015440,NR_024371 LINC00982,LINC00982 EXON Silent,Silent rs185342794 1 2986519 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs72846020 1 2988549 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.2990695 1 2990696 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.2992250 1 2992251 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2993486 1 2993638 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2993487 1 2993733 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4648358 1 2993740 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2981888 1 2993807 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4648359 1 2994336 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.2998021 1 2998022 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.2998312 1 2998313 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.2998631 1 2998632 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.2998698 1 2998699 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs760567 1 3000465 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6695131 1 3000924 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3001712 1 3001713 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2742677 1 3002610 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs11801109 1 3003532 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3006031 1 3006032 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs926244 1 3006283 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3008556 1 3008557 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7543737 1 3009969 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3010981 1 3010982 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3012082 1 3012083 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3012499 1 3012500 [C/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3013133 1 3013134 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs55915245 1 3013686 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2817168 1 3013690 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3015134 1 3015135 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3015357 1 3015358 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs140943213 1 3015386 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs79191971 1 3016117 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3017069 1 3017070 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3017267 1 3017268 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs74633240 1 3018995 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2993493 1 3020246 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3021915 1 3021916 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs1890336 1 3024265 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2993501 1 3025986 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2993503 1 3028987 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2072733 1 3029081 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs115737143 1 3030907 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs72630950 1 3031322 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs72846091 1 3032146 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6690373 1 3035227 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3037716 1 3037717 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3041791 1 3041792 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3043043 1 3043044 [C/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3044433 1 3044434 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3044870 1 3044871 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3045622 1 3045623 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2742669 1 3046352 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2817178 1 3047252 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3047446 1 3047447 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3047462 1 3047463 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2742668 1 3047612 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12024620 1 3049362 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909882 1 3049713 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4648364 1 3053030 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs76650675 1 3054425 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3056528 1 3056529 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3056914 1 3056915 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12739776 1 3057480 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3057787 1 3057788 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2742665 1 3058238 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3058248 1 3058249 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3058369 1 3058370 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3058410 1 3058411 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3058913 1 3058914 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12120884 1 3058914 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3061562 1 3061563 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3062332 1 3062333 [C/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3062370 1 3062371 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3062494 1 3062495 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3062564 1 3062565 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3062684 1 3062685 [C/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3062844 1 3062845 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3062874 1 3062875 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3062908 1 3062909 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs75467184 1 3063008 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3063082 1 3063083 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs79538554 1 3063713 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3063731 1 3063732 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3064213 1 3064214 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs9729248 1 3067705 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs731031 1 3072692 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651902 1 3074306 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs183582485 1 3075237 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3078344 1 3078345 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs79063099 1 3078729 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3079904 1 3079905 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2742673 1 3080019 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs74975606 1 3082639 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs72630971 1 3082670 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm-rs2651899 1 3083712 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651899 1 3083712 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651935 1 3086496 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2817128 1 3088943 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3089201 1 3089202 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3090336 1 3090337 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3090353 1 3090354 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs61759167 1 3091587 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3096987 1 3096988 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3097110 1 3097111 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3097463 1 3097464 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3098488 1 3098489 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs145204024 1 3099091 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3100826 1 3100827 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651927 1 3101762 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs368409902 1 3102675 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent 1:3102700-GA 1 3102700 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V17I,Missense_V17I 1:3102728-GA 1 3102728 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_R26Q,Missense_R26Q exm6451 1 3102751 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A34T,Missense_A34T 1:3103004-GA 1 3103004 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_R118Q,Missense_R118Q rs10752733 1 3104630 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs79612213 1 3104999 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3106267 1 3106268 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs74811618 1 3106350 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2817140 1 3106616 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3106953 1 3106954 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7539775 1 3109151 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3110416 1 3110417 [C/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3110478 1 3110479 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3110660 1 3110661 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3110677 1 3110678 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs80115654 1 3110682 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3110862 1 3110863 [A/T] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3111118 1 3111119 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3111141 1 3111142 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm2260168 1 3111669 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909892 1 3112278 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909895 1 3113680 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs74048305 1 3114657 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3115720 1 3115721 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3115852 1 3115853 [T/A] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs9659513 1 3116361 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2102131 1 3116620 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3116816 1 3116817 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3117628 1 3117629 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3117804 1 3117805 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12096975 1 3118316 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs58819932 1 3119118 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7521730 1 3120130 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3121416 1 3121417 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs142435829 1 3122070 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs72846901 1 3122638 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3123096 1 3123097 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7521987 1 3124080 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs13328662 1 3124155 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3125960 1 3125961 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4376672 1 3126090 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs72848009 1 3127690 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3130379 1 3130380 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909901 1 3131235 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3131906 1 3131907 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2817146 1 3133439 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs75426237 1 3134137 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3135054 1 3135055 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651907 1 3135067 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651895 1 3138111 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3140225 1 3140226 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs16823548 1 3140812 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3141416 1 3141417 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10158583 1 3144068 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs16823558 1 3144826 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs76543382 1 3145324 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6424069 1 3147030 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs74048388 1 3147593 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909905 1 3147899 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3148110 1 3148111 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3148112 1 3148113 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3148152 1 3148153 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs77301359 1 3148554 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455116 1 3148574 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs72632106 1 3148616 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3148615 1 3148616 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3148654 1 3148655 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3148696 1 3148697 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3149453 1 3149454 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3149686 1 3149687 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3149806 1 3149807 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3149954 1 3149955 [A/T] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3150028 1 3150029 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3150368 1 3150369 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3150747 1 3150748 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs57854542 1 3151025 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs11807062 1 3153237 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3154528 1 3154529 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6658664 1 3155419 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs72632108 1 3158951 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2500252 1 3161353 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs74048402 1 3162043 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455098 1 3163579 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2937390 1 3163997 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3165475 1 3165476 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3165534 1 3165535 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3165627 1 3165628 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3165722 1 3165723 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs60443258 1 3167203 [C/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs35272378 1 3167745 [A/T] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs55987640 1 3168247 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3168305 1 3168306 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12409278 1 3168609 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3169590 1 3169591 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3175637 1 3175638 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs117242822 1 3175690 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs3002686 1 3178111 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3178486 1 3178487 [C/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs72632125 1 3178716 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs74050814 1 3178825 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455107 1 3180158 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3183606 1 3183607 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs78982773 1 3183607 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3184270 1 3184271 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455125 1 3189006 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3191849 1 3191850 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3192065 1 3192066 [T/A] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3194915 1 3194916 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3196469 1 3196470 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs79534072 1 3197080 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3197967 1 3197968 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs61759190 1 3199121 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3200757 1 3200758 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455111 1 3202072 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs111756326 1 3203275 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3203765 1 3203766 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent 1:3206383-A-G 1 3206383 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs55866132 1 3207780 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12404208 1 3208323 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3210304 1 3210305 [A/T] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4648468 1 3210950 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4648377 1 3211458 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3211526 1 3211527 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455144 1 3214732 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455137 1 3217151 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455135 1 3219901 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6673393 1 3220101 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3220371 1 3220372 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent 1:3222285-T-C 1 3222285 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs11808276 1 3222470 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909925 1 3223899 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs77348459 1 3225368 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs140812042 1 3226027 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs59127130 1 3226539 [A/T] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12567158 1 3226833 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483259 1 3227175 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3227974 1 3227975 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs114496206 1 3227975 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12743017 1 3229185 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs80170901 1 3231499 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3232937 1 3232938 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs77395414 1 3234626 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs60221418 1 3234700 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483266 1 3236041 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7531499 1 3236372 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3237173 1 3237174 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3237208 1 3237209 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3237802 1 3237803 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3238119 1 3238120 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3240634 1 3240635 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3241115 1 3241116 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3242217 1 3242218 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs61759196 1 3242218 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909930 1 3243017 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3243350 1 3243351 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs56368529 1 3245799 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs60965469 1 3246839 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483274 1 3248098 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483275 1 3249242 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3251586 1 3251587 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483278 1 3252104 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483279 1 3252169 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7516150 1 3253889 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7552331 1 3253941 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs16824328 1 3254100 [G/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483280 1 3255539 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3257581 1 3257582 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6686156 1 3259029 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs882430 1 3259113 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3259428 1 3259429 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3259826 1 3259827 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4648379 1 3261516 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4415513 1 3261682 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3263010 1 3263011 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs144022593 1 3263260 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3265802 1 3265803 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3267280 1 3267281 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3267658 1 3267659 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs76822965 1 3268527 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3269059 1 3269060 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12076855 1 3269710 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3271153 1 3271154 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs880223 1 3271291 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs74048282 1 3271599 [A/T] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3272540 1 3272541 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3272754 1 3272755 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3272824 1 3272825 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3272959 1 3272960 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3273467 1 3273468 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs144404695 1 3274245 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs78844001 1 3274986 [T/A] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs146972791 1 3275446 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs9424293 1 3275822 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent 1:3279268-T-A 1 3279268 [T/A] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs11807862 1 3279268 [T/A] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7524171 1 3279324 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm-rs6658356 1 3280253 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs79552416 1 3281181 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3282361 1 3282362 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4648487 1 3285304 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs116189435 1 3289495 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs1538693 1 3294972 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3296771 1 3296772 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3296950 1 3296951 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12723712 1 3300169 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3300277 1 3300278 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs868688 1 3300807 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent 1:3301758-AG 1 3301758 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_N161D,Missense_N161D 1:3301830-AG 1 3301830 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_M185V,Missense_M185V rs2245703 1 3303446 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2065524 1 3303731 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6676024 1 3303767 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs17399998 1 3305016 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs55792473 1 3305096 [C/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3306719 1 3306720 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2493278 1 3307746 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs115622686 1 3308706 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs883679 1 3312326 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs139632123 1 3312493 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs871822 1 3312914 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent 1:3313127-CA 1 3313127 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P216T,Missense_P216T JHU_1.3313281 1 3313282 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3313642 1 3313643 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3314129 1 3314130 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3316538 1 3316539 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6424074 1 3317780 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3318433 1 3318434 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3318434 1 3318435 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs11578011 1 3318532 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm2233195 1 3319384 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D236N,Missense_D236N rs185041492 1 3319384 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D236N,Missense_D236N 1:3319451-CA 1 3319451 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A258D,Missense_A258D Variant47865 1 3319550 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P291L,Missense_P291L JHU_1.3320599 1 3320600 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs79738908 1 3320932 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm6506 1 3321352 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D312N,Missense_D312N JHU_1.3324416 1 3324417 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483225 1 3325037 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs114304418 1 3325061 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12097446 1 3325144 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3327789 1 3327790 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm6524 1 3327949 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Synonymous_C396C,Synonymous_C396C rs188908415 1 3328187 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P476S,Missense_P476S exm6534 1 3328187 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P476S,Missense_P476S JHU_1.3328278 1 3328279 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Synonymous_T506T,Synonymous_T506T exm1794873 1 3328298 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G513S,Missense_G513S chr1_3328316 1 3328316 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P519S,Missense_P519S exm2233200 1 3328327 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_L522F,Missense_L522F exm6548 1 3328358 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_S533P,Missense_S533P 1:3328386-CA 1 3328386 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T542N,Missense_T542N exm6556 1 3328445 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V562I,Missense_V562I exm6558 1 3328467 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T569M,Missense_T569M 1:3328470-CA 1 3328470 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T570K,Missense_T570K exm6561 1 3328487 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_E576K,Missense_E576K exm6563 1 3328555 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_M598I,Missense_M598I 1:3328581-TC 1 3328581 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V607A,Missense_V607A exm6570 1 3328593 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T611M,Missense_T611M exm6573 1 3328623 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T621M,Missense_T621M exm6574 1 3328643 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D628N,Missense_D628N exm6576 1 3328659 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P633L,Missense_P633L 1:3328796-GA 1 3328796 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D679N,Missense_D679N 1:3328818-CT 1 3328818 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_T686M,Missense_T686M 1:3328865-A-T 1 3328865 [T/A] NM_022114,NM_199454 PRDM16,PRDM16 EXON Nonsense_K702X,Nonsense_K702X exm6589 1 3328887 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_M709T,Missense_M709T 1:3329036-CT 1 3329036 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_R759W,Missense_R759W exm6603 1 3329042 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A761T,Missense_A761T exm6605 1 3329051 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V764M,Missense_V764M rs149333409 1 3329051 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V764M,Missense_V764M exm6607 1 3329057 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G766S,Missense_G766S 1:3329147-GA 1 3329147 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A796T,Missense_A796T 1:3329203-CA 1 3329203 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_S814R,Missense_S814R 1:3329208-A-G 1 3329208 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_N816S,Missense_N816S 1:3329210-GA 1 3329210 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G817S,Missense_G817S 1:3329216-GA 1 3329216 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G819R,Missense_G819R 1:3329321-CA 1 3329321 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_H854N,Missense_H854N 1:3329350-GT 1 3329350 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_M863I,Missense_M863I rs72851311 1 3330390 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs184929979 1 3331138 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_R873Q,Missense_R873Q 1:3331138-GA 1 3331138 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_R873Q,Missense_R873Q 1:3331155-GA 1 3331155 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V879M,Missense_V879M exm6628 1 3331183 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_R888Q,Missense_R888Q exm6629 1 3331186 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_P889L,Missense_P889L exm2251405 1 3331193 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Synonymous_P891P,Synonymous_P891P JHU_1.3332211 1 3332212 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3332682 1 3332683 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2493285 1 3333595 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3334109 1 3334110 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm6635 1 3334441 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_M914T,Missense_M914T rs2483230 1 3334892 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2493284 1 3337156 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12033468 1 3337308 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs11579873 1 3337636 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3338437 1 3338438 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3340067 1 3340068 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3340268 1 3340269 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483233 1 3340347 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs75790988 1 3340901 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3341565 1 3341566 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3341627 1 3341628 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2244013 1 3342530 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs187400273 1 3342635 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_L1044F,Missense_L1044F exm6665 1 3342635 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_L1044F,Missense_L1044F exm6666 1 3342659 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A1052T,Missense_A1052T exm2233206 1 3342726 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_S1074L,Missense_S1074L exm6674 1 3342788 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_R1095W,Missense_R1095W JHU_1.3342967 1 3342968 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3343127 1 3343128 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12029107 1 3343285 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2493280 1 3343356 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs118033232 1 3343378 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483238 1 3344127 [T/A] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483242 1 3345145 [A/T] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3345215 1 3345216 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs1537407 1 3345705 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs367693684 1 3346120 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3346937 1 3346938 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909944 1 3346992 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent 1:3347437-GA 1 3347437 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A1096T,Missense_A1096T Variant47867 1 3347452 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V1101M,Missense_V1101M rs201654872 1 3347452 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V1101M,Missense_V1101M 1:3347557-GA 1 3347557 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G1136R,Missense_G1136R exm6686 1 3347578 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_V1143M,Missense_V1143M 1:3347588-CT 1 3347588 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_A1146V,Missense_A1146V 1:3347593-GA 1 3347593 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_E1148K,Missense_E1148K 1:3347616-TG 1 3347616 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_D1155E,Missense_D1155E rs149761594 1 3348082 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm6695 1 3348552 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Missense_G1182S,Missense_G1182S rs2493272 1 3349513 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7349183 1 3349544 [C/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483247 1 3349965 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent JHU_1.3351163 1 3351164 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Silent,Silent JHU_1.3351379 1 3351380 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Silent,Silent JHU_1.3352174 1 3352175 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Silent,Silent rs1537406 1 3352227 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Silent,Silent JHU_1.3352861 1 3352862 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Silent,Silent rs35837267 1 3353637 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 EXON Silent,Silent rs12728419 1 3353750 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Silent,Silent JHU_1.3360966 1 3360967 [T/C] rs61759222 1 3361808 [T/C] rs867814 1 3362256 [T/C] JHU_1.3363962 1 3363963 [A/T] rs12086322 1 3366314 [A/G] rs2487670 1 3368143 [A/G] JHU_1.3375932 1 3375933 [T/C] NM_014448 ARHGEF16 Silent rs2487680 1 3377442 [T/C] NM_014448 ARHGEF16 Silent chr1_3379881 1 3379881 [T/C] NM_014448 ARHGEF16 EXON Missense_P78L 1:3379959-GA 1 3379959 [A/G] NM_014448 ARHGEF16 EXON Missense_R104H chr1_3379973 1 3379973 [A/G] NM_014448 ARHGEF16 EXON Missense_G109R 1:3380007-GA 1 3380007 [A/G] NM_014448 ARHGEF16 EXON Missense_R120Q exm6722 1 3380057 [A/G] NM_014448 ARHGEF16 EXON Missense_V137M 1:3380223-CT 1 3380223 [T/C] NM_014448 ARHGEF16 EXON Missense_P192L 1:3383881-AG 1 3383881 [A/G] NM_014448 ARHGEF16 EXON Missense_T262A JHU_1.3384757 1 3384758 [T/C] NM_014448 ARHGEF16 Silent rs117479013 1 3385915 [A/G] NM_014448 ARHGEF16 Silent 1:3386067-TG 1 3386067 [T/G] NM_014448 ARHGEF16 EXON Missense_L311R 1:3386093-GA 1 3386093 [A/G] NM_014448 ARHGEF16 EXON Missense_V320M 1:3388303-CT 1 3388303 [T/C] NM_014448 ARHGEF16 Silent 1:3389688-GA 1 3389688 [A/G] NM_014448 ARHGEF16 EXON Missense_E357K exm6750 1 3389703 [A/G] NM_014448 ARHGEF16 EXON Missense_I362V exm6752 1 3389718 [T/G] NM_014448 ARHGEF16 EXON Missense_A367S exm6755 1 3389757 [A/G] NM_014448 ARHGEF16 EXON Missense_N380D 1:3389995-TG 1 3389995 [T/G] NM_014448 ARHGEF16 EXON Missense_I405S 1:3390015-GA 1 3390015 [A/G] NM_014448 ARHGEF16 EXON Missense_G412R 1:3390154-CT 1 3390154 [T/C] NM_014448 ARHGEF16 Silent exm6767 1 3391324 [A/G] NM_014448 ARHGEF16 EXON Missense_R453H 1:3392564-AG 1 3392564 [A/G] NM_014448 ARHGEF16 EXON Missense_R471G rs12124163 1 3393037 [T/G] NM_014448 ARHGEF16 Silent exm6782 1 3394533 [A/G] NM_014448 ARHGEF16 EXON Missense_R523Q exm6784 1 3394541 [T/A] NM_014448 ARHGEF16 EXON Missense_C526S 1:3394580-CAAG-C 1 3394580 [I/D] NM_014448 ARHGEF16 EXON exm6792 1 3395016 [A/G] NM_014448 ARHGEF16 EXON Missense_A552T exm6793 1 3395020 [A/G] NM_014448 ARHGEF16 EXON Missense_Q553R chr1_3395055 1 3395055 [T/G] NM_014448 ARHGEF16 EXON Missense_S565A exm6806 1 3395176 [T/C] NM_014448 ARHGEF16 EXON Missense_A605V 1:3396412-CT 1 3396412 [T/C] NM_014448 ARHGEF16 EXON Missense_A642V exm2273605 1 3396420 [A/G] NM_014448 ARHGEF16 EXON Missense_A645T exm6818 1 3396465 [T/C] NM_014448 ARHGEF16 EXON Nonsense_Q660X JHU_1.3398983 1 3398984 [T/C] JHU_1.3402531 1 3402532 [A/T] rs140094957 1 3404733 [T/C] NM_001409 MEGF6 EXON Silent rs115919274 1 3404818 [A/G] NM_001409 MEGF6 EXON Silent JHU_1.3404817 1 3404818 [A/G] NM_001409 MEGF6 EXON Silent rs4648505 1 3405296 [T/C] NM_001409 MEGF6 EXON Silent JHU_1.3405474 1 3405475 [A/G] NM_001409 MEGF6 EXON Silent JHU_1.3406280 1 3406281 [A/G] NM_001409 MEGF6 EXON Silent exm6833 1 3407112 [T/C] NM_001409 MEGF6 EXON Missense_G1536S 1:3407525-TC 1 3407525 [T/C] NM_001409 MEGF6 Silent rs116701568 1 3407745 [T/C] NM_001409 MEGF6 Silent JHU_1.3408705 1 3408706 [A/C] NM_001409 MEGF6 Silent rs111696316 1 3408798 [A/G] NM_001409 MEGF6 Silent exm2233224 1 3409214 [A/G] NM_001409 MEGF6 EXON Missense_T1502M exm6842 1 3409272 [T/C] NM_001409 MEGF6 EXON Missense_A1483T 1:3409328-CA 1 3409328 [A/C] NM_001409 MEGF6 EXON Missense_C1464F 1:3410431-GT 1 3410431 [T/G] NM_001409 MEGF6 EXON Missense_H1431N 1:3410451-CA 1 3410451 [A/C] NM_001409 MEGF6 EXON Missense_G1424V 1:3410581-GA 1 3410581 [A/G] NM_001409 MEGF6 EXON Missense_H1413Y Variant37631 1 3410605 [A/G] NM_001409 MEGF6 EXON Nonsense_R1405X exm2251433 1 3410942 [A/G] NM_001409 MEGF6 EXON Synonymous_C1374C 1:3410968-CT 1 3410968 [T/C] NM_001409 MEGF6 EXON Missense_G1366S exm6862 1 3410980 [T/G] NM_001409 MEGF6 EXON Missense_T1362P 1:3411000-GA 1 3411000 [A/G] NM_001409 MEGF6 EXON Missense_T1355M 1:3411019-AG 1 3411019 [A/G] NM_001409 MEGF6 EXON Missense_S1349P exm6871 1 3411048 [T/C] NM_001409 MEGF6 EXON Missense_R1339H 1:3411273-CT 1 3411273 [T/C] NM_001409 MEGF6 EXON Missense_E1302K JHU_1.3412110 1 3412111 [T/C] NM_001409 MEGF6 Silent 1:3412576-GA 1 3412576 [A/G] NM_001409 MEGF6 EXON Missense_P1250L exm6888 1 3413233 [A/G] NM_001409 MEGF6 EXON Missense_T1243M 1:3413291-CA 1 3413291 [A/C] NM_001409 MEGF6 EXON Missense_G1224W 1:3413672-CT 1 3413672 [T/C] NM_001409 MEGF6 EXON Missense_G1165S JHU_1.3414458 1 3414459 [A/G] NM_001409 MEGF6 Silent Variant37633 1 3414934 [T/C] NM_001409 MEGF6 Silent 1:3415052-GA 1 3415052 [A/G] NM_001409 MEGF6 EXON Missense_R1079W 1:3415268-CA 1 3415268 [A/C] NM_001409 MEGF6 EXON Nonsense_E1073X 1:3415273-GA 1 3415273 [A/G] NM_001409 MEGF6 EXON Missense_A1071V 1:3415283-CA 1 3415283 [A/C] NM_001409 MEGF6 EXON Missense_A1068S 1:3415318-GT 1 3415318 [T/G] NM_001409 MEGF6 EXON Missense_P1056H exm6926 1 3415357 [T/C] NM_001409 MEGF6 EXON Missense_R1043Q 1:3415750-CT 1 3415750 [T/C] NM_001409 MEGF6 EXON Missense_G1016R 1:3416172-CT 1 3416172 [T/C] NM_001409 MEGF6 EXON Missense_R982Q 1:3416175-CT 1 3416175 [T/C] NM_001409 MEGF6 EXON Missense_R981H 1:3416176-GA 1 3416176 [A/G] NM_001409 MEGF6 EXON Missense_R981C 1:3416182-CT 1 3416182 [T/C] NM_001409 MEGF6 EXON Missense_A979T exm6940 1 3416227 [T/C] NM_001409 MEGF6 EXON Missense_A964T 1:3416440-CT 1 3416440 [T/C] NM_001409 MEGF6 EXON Missense_C919Y exm6947 1 3416449 [A/C] NM_001409 MEGF6 EXON Missense_R916L 1:3416483-GT 1 3416483 [T/G] NM_001409 MEGF6 EXON Missense_P905T exm6953 1 3417211 [A/G] NM_001409 MEGF6 EXON Missense_P898L exm6954 1 3417218 [T/C] NM_001409 MEGF6 EXON Missense_V896M exm6956 1 3417275 [T/C] NM_001409 MEGF6 EXON Missense_A877T 1:3417310-CA 1 3417310 [A/C] NM_001409 MEGF6 EXON Missense_W865L exm6959 1 3417545 [A/G] NM_001409 MEGF6 EXON Missense_F854L 1:3417596-GA 1 3417596 [A/G] NM_001409 MEGF6 EXON Missense_H837Y exm6963 1 3417622 [A/G] NM_001409 MEGF6 EXON Missense_T828I exm6965 1 3417742 [A/G] NM_001409 MEGF6 EXON Synonymous_D815D exm6966 1 3417747 [A/G] NM_001409 MEGF6 EXON Nonsense_Q814X 1:3417836-TC 1 3417836 [T/C] NM_001409 MEGF6 EXON Missense_E784G 1:3417864-CT 1 3417864 [T/C] NM_001409 MEGF6 EXON Missense_E775K exm6978 1 3418399 [A/G] NM_001409 MEGF6 EXON Missense_R759W 1:3418436-AC 1 3418436 [A/C] NM_001409 MEGF6 EXON Missense_C746W JHU_1.3418461 1 3418462 [T/C] NM_001409 MEGF6 EXON Missense_V738M 1:3502017_3502018ins 1 3418581 [I/D] NM_001409 MEGF6 JHU_1.3420902 1 3420903 [T/G] NM_001409 MEGF6 Silent rs2821009 1 3421658 [T/A] NM_001409 MEGF6 Silent 1:3421997-CT 1 3421997 [T/C] NM_001409 MEGF6 EXON Missense_R681H 1:3422087-GA 1 3422087 [A/G] NM_001409 MEGF6 EXON Missense_S651L rs186508924 1 3422424 [A/G] NM_001409 MEGF6 Silent JHU_1.3423360 1 3423361 [A/G] NM_001409 MEGF6 Silent rs947344 1 3423467 [T/C] NM_001409 MEGF6 Silent exm7020 1 3424388 [A/G] NM_001409 MEGF6 EXON Missense_P587L exm7025 1 3424419 [T/C] NM_001409 MEGF6 EXON Missense_D577N exm7035 1 3425238 [A/G] NM_001409 MEGF6 EXON Missense_S515F 1:3425656-GA 1 3425656 [A/G] NM_001409 MEGF6 EXON Missense_T504M 1:3425690-CT 1 3425690 [T/C] NM_001409 MEGF6 EXON Missense_D493N 1:3425696-CCGA-C 1 3425696 [I/D] NM_001409 MEGF6 EXON exm7042 1 3425722 [A/G] NM_001409 MEGF6 EXON Missense_P482L 1:3425743-GA 1 3425743 [A/G] NM_001409 MEGF6 EXON Missense_A475V 1:3425762-GA 1 3425762 [A/G] NM_001409 MEGF6 EXON Missense_R469W exm7049 1 3425797 [A/G] NM_001409 MEGF6 EXON Missense_P457L 1:3426523-CA 1 3426523 [A/C] NM_001409 MEGF6 EXON Missense_C423F 1:3426527-CT 1 3426527 [T/C] NM_001409 MEGF6 EXON Missense_G422S exm7055 1 3426533 [A/G] NM_001409 MEGF6 EXON Missense_R420C exm7076 1 3428144 [T/C] NM_001409 MEGF6 EXON Missense_E362K 1:3428582-GA 1 3428582 [A/G] NM_001409 MEGF6 EXON Missense_R322W exm7090 1 3428591 [T/C] NM_001409 MEGF6 EXON Missense_A319T 1:3428608-GA 1 3428608 [A/G] NM_001409 MEGF6 EXON Missense_A313V exm7101 1 3431134 [A/G] NM_001409 MEGF6 EXON Missense_A278V 1:3431137-GT 1 3431137 [T/G] NM_001409 MEGF6 EXON Missense_A277E exm7102 1 3431138 [A/C] NM_001409 MEGF6 EXON Missense_A277S exm7104 1 3431168 [A/G] NM_001409 MEGF6 EXON Missense_R267C exm7112 1 3431235 [A/C] NM_001409 MEGF6 EXON Synonymous_R244R chr1_3432026 1 3432026 [A/G] NM_001409 MEGF6 EXON Missense_R224W exm7118 1 3432044 [T/C] NM_001409 MEGF6 EXON Missense_V218I 1:3432058-CT 1 3432058 [T/C] NM_001409 MEGF6 EXON Missense_C213Y exm7121 1 3432077 [T/C] NM_001409 MEGF6 EXON Missense_A207T rs12045137 1 3432278 [G/C] NM_001409 MEGF6 Silent rs11587498 1 3432993 [A/G] NM_001409 MEGF6 Silent rs2794362 1 3434984 [G/C] NM_001409 MEGF6 Silent rs76447852 1 3437465 [A/C] NM_001409 MEGF6 Silent rs2794365 1 3437935 [T/C] NM_001409 MEGF6 Silent exm7124 1 3440718 [A/G] NM_001409 MEGF6 EXON Missense_R192W exm7127 1 3440753 [A/G] NM_001409 MEGF6 EXON Missense_P180L 1:3440784-CT 1 3440784 [T/C] NM_001409 MEGF6 EXON Missense_G170S exm7131 1 3440796 [A/G] NM_001409 MEGF6 EXON Nonsense_R166X rs10797399 1 3440824 [A/G] NM_001409 MEGF6 Silent JHU_1.3442871 1 3442872 [C/G] NM_001409 MEGF6 Silent JHU_1.3443407 1 3443408 [G/C] NM_001409 MEGF6 Silent rs143499555 1 3443678 [A/G] NM_001409 MEGF6 Silent rs115731794 1 3450274 [T/C] NM_001409 MEGF6 Silent rs10797400 1 3450637 [A/C] NM_001409 MEGF6 Silent rs12119711 1 3451005 [T/C] NM_001409 MEGF6 Silent rs79358002 1 3453150 [T/C] NM_001409 MEGF6 Silent rs75201405 1 3459197 [A/G] NM_001409 MEGF6 Silent rs10797401 1 3462904 [T/C] NM_001409 MEGF6 Silent rs6685801 1 3464451 [T/C] NM_001409 MEGF6 Silent JHU_1.3466028 1 3466029 [T/C] NM_001409 MEGF6 Silent JHU_1.3466447 1 3466448 [A/G] NM_001409 MEGF6 Silent JHU_1.3472219 1 3472220 [A/G] NM_001409 MEGF6 Silent rs77858489 1 3472346 [A/G] NM_001409 MEGF6 Silent rs78511956 1 3472963 [T/C] NM_001409 MEGF6 Silent rs116993728 1 3473274 [A/G] NM_001409 MEGF6 Silent JHU_1.3473469 1 3473470 [A/T] NM_001409 MEGF6 Silent JHU_1.3474366 1 3474367 [A/G] NM_001409 MEGF6 Silent JHU_1.3476108 1 3476109 [A/G] NM_001409 MEGF6 Silent rs2821060 1 3477902 [T/C] NM_001409 MEGF6 Silent rs7525042 1 3479335 [T/G] NM_001409 MEGF6 Silent rs60609290 1 3481073 [A/C] NM_001409 MEGF6 Silent rs113235815 1 3481184 [A/G] NM_001409 MEGF6 Silent JHU_1.3482587 1 3482588 [T/C] NM_001409 MEGF6 Silent JHU_1.3483557 1 3483558 [T/G] NM_001409 MEGF6 Silent JHU_1.3484821 1 3484822 [T/C] NM_001409 MEGF6 Silent JHU_1.3484899 1 3484900 [A/C] NM_001409 MEGF6 Silent JHU_1.3485052 1 3485053 [T/C] NM_001409 MEGF6 Silent JHU_1.3485107 1 3485108 [T/C] NM_001409 MEGF6 Silent rs143687793 1 3486174 [A/G] NM_001409 MEGF6 Silent rs867413 1 3486335 [A/G] NM_001409 MEGF6 Silent JHU_1.3486860 1 3486861 [A/C] NM_001409 MEGF6 Silent rs947354 1 3487126 [T/C] NM_001409 MEGF6 Silent rs56365936 1 3487922 [T/C] NM_001409 MEGF6 Silent JHU_1.3491141 1 3491142 [T/C] NM_001409 MEGF6 Silent JHU_1.3492089 1 3492090 [C/G] NM_001409 MEGF6 Silent rs2821055 1 3493700 [T/C] NM_001409 MEGF6 Silent JHU_1.3495486 1 3495487 [A/G] NM_001409 MEGF6 Silent 1:3496475-AG 1 3496475 [A/G] NM_001409 MEGF6 EXON Missense_L132P exm7145 1 3496479 [T/C] NM_001409 MEGF6 EXON Missense_S131G JHU_1.3497282 1 3497283 [T/C] NM_001409 MEGF6 Silent JHU_1.3497842 1 3497843 [C/G] NM_001409 MEGF6 Silent rs10909974 1 3499067 [T/C] NM_001409 MEGF6 Silent rs75898828 1 3499296 [C/G] NM_001409 MEGF6 Silent 1:3583762_3583763ins 1 3500326 [D/I] NM_001409 MEGF6 JHU_1.3506325 1 3506326 [A/T] NM_001409 MEGF6 Silent rs57453372 1 3506326 [A/T] NM_001409 MEGF6 Silent JHU_1.3507001 1 3507002 [A/G] NM_001409 MEGF6 Silent JHU_1.3507544 1 3507545 [A/G] NM_001409 MEGF6 Silent rs4648527 1 3507861 [A/G] NM_001409 MEGF6 Silent rs115868017 1 3508851 [A/G] NM_001409 MEGF6 Silent JHU_1.3510135 1 3510136 [T/C] NM_001409 MEGF6 Silent rs6697749 1 3510633 [A/C] NM_001409 MEGF6 Silent rs74510287 1 3511005 [A/G] NM_001409 MEGF6 Silent JHU_1.3511583 1 3511584 [A/C] NM_001409 MEGF6 Silent exm7149 1 3511934 [A/G] NM_001409 MEGF6 EXON Missense_M115T JHU_1.3511933 1 3511934 [A/G] NM_001409 MEGF6 EXON Missense_M115T rs2821024 1 3512546 [A/G] NM_001409 MEGF6 Silent rs116236688 1 3513581 [T/C] NM_001409 MEGF6 Silent rs6690231 1 3513966 [T/C] NM_001409 MEGF6 Silent rs3001106 1 3513996 [A/G] NM_001409 MEGF6 Silent JHU_1.3518383 1 3518384 [T/C] NM_001409 MEGF6 Silent JHU_1.3518486 1 3518487 [T/C] NM_001409 MEGF6 Silent rs76496459 1 3518909 [T/G] NM_001409 MEGF6 Silent 1:3519138-AG 1 3519138 [A/G] NM_001409 MEGF6 EXON Missense_L53P rs74998818 1 3519544 [T/C] NM_001409 MEGF6 Silent rs2821015 1 3520127 [T/C] NM_001409 MEGF6 Silent rs2794356 1 3520331 [A/C] NM_001409 MEGF6 Silent rs2821017 1 3520871 [A/G] NM_001409 MEGF6 Silent JHU_1.3521965 1 3521966 [T/C] NM_001409 MEGF6 Silent JHU_1.3522139 1 3522140 [T/A] NM_001409 MEGF6 Silent rs35701577 1 3522561 [T/C] NM_001409 MEGF6 Silent 1:3523757-A-G 1 3523757 [A/G] NM_001409 MEGF6 Silent rs74504141 1 3524248 [T/G] NM_001409 MEGF6 Silent rs2821022 1 3524891 [A/T] NM_001409 MEGF6 Silent rs10909986 1 3525836 [A/G] NM_001409 MEGF6 Silent JHU_1.3526995 1 3526996 [A/C] NM_001409 MEGF6 Silent rs148869898 1 3527483 [A/G] NM_001409 MEGF6 Silent JHU_1.3527637 1 3527638 [C/G] NM_001409 MEGF6 Silent JHU_1.3530099 1 3530100 [T/C] rs4648398 1 3531595 [T/C] rs61026690 1 3532084 [T/C] JHU_1.3532298 1 3532299 [G/C] JHU_1.3532463 1 3532464 [A/G] rs7522507 1 3534808 [A/G] JHU_1.3535549 1 3535550 [A/G] JHU_1.3535556 1 3535557 [A/G] rs80103199 1 3535851 [T/C] rs4364818 1 3538501 [T/C] rs10909990 1 3539481 [A/G] rs12757620 1 3540024 [T/G] 1:3541683-CA 1 3541683 [A/C] NM_182752 TPRG1L EXON Missense_T16K 1:3541777-GA 1 3541777 [A/G] NM_182752 TPRG1L EXON Nonsense_W47X 1:3541838-GA 1 3541838 [A/G] NM_182752 TPRG1L Silent exm7185 1 3542306 [A/G] NM_182752 TPRG1L EXON Missense_R108Q indel.400 1 3542386 [I/D] NM_182752 TPRG1L EXON newrs148462952 1 3542422 [T/G] NM_182752 TPRG1L EXON Nonsense_E147X variant.402 1 3542458 [A/G] NM_182752 TPRG1L Silent rs16823920 1 3542969 [A/G] NM_182752 TPRG1L Silent variant.403 1 3544065 [T/C] NM_182752 TPRG1L EXON Nonsense_R158X 1:3544083-CT 1 3544083 [T/C] NM_182752 TPRG1L EXON Nonsense_R164X rs113982697 1 3544187 [T/C] NM_182752 TPRG1L EXON Synonymous_G198G exm7204 1 3544991 [G/C] NM_182752 TPRG1L EXON Missense_L215V variant.405 1 3544995 [T/G] NM_182752 TPRG1L EXON Nonsense_L216X exm7205 1 3545054 [A/G] NM_182752 TPRG1L EXON Missense_V236M 1:3545102-AC 1 3545102 [A/C] NM_182752 TPRG1L EXON Missense_M252L 1:3545139-CT 1 3545139 [T/C] NM_182752 TPRG1L EXON Missense_S264F rs1128474 1 3545612 [A/G] NM_182752 TPRG1L EXON Silent JHU_1.3546428 1 3546429 [G/C] NM_182752 TPRG1L EXON Silent 1:3547564-CT 1 3547564 [T/C] NM_017818 WRAP73 EXON Missense_C453Y 1:3547999-GT 1 3547999 [T/G] NM_017818 WRAP73 Silent 1:3548050-GA 1 3548050 [A/G] NM_017818 WRAP73 EXON Missense_S407L exm7240 1 3548110 [T/C] NM_017818 WRAP73 EXON Missense_R387Q exm7242 1 3548122 [A/G] NM_017818 WRAP73 EXON Missense_P383L rs2760321 1 3548136 [T/C] NM_017818 WRAP73 EXON Synonymous_A378A exm7249 1 3548198 [T/C] NM_017818 WRAP73 EXON Missense_V358I rs2244942 1 3548542 [T/C] NM_017818 WRAP73 Silent exm7253 1 3548832 [G/C] NM_017818 WRAP73 EXON Missense_I331M 1:3548854-GA 1 3548854 [A/G] NM_017818 WRAP73 EXON Missense_T324I exm7274 1 3551592 [G/C] NM_017818 WRAP73 EXON Missense_G262A exm7276 1 3551605 [T/G] NM_017818 WRAP73 EXON Missense_I258L rs79481270 1 3551661 [A/G] NM_017818 WRAP73 Silent exm7281 1 3551737 [T/C] NM_017818 WRAP73 EXON Missense_S242N exm1798684 1 3551783 [T/C] NM_017818 WRAP73 EXON Missense_K227E JHU_1.3551897 1 3551898 [A/C] NM_017818 WRAP73 Silent JHU_1.3551904 1 3551905 [A/G] NM_017818 WRAP73 Silent rs77144466 1 3552607 [A/G] NM_017818 WRAP73 Silent 1:3555383-GA 1 3555383 [A/G] NM_017818 WRAP73 EXON Missense_R115W rs7528494 1 3558228 [T/C] NM_017818 WRAP73 Silent 1:3563294-GA 1 3563294 [A/G] NM_017818 WRAP73 EXON Missense_A92V 1:3563346-CT 1 3563346 [T/C] NM_017818 WRAP73 EXON Missense_V75I exm7323 1 3564105 [T/C] NM_017818 WRAP73 EXON Missense_R30Q rs118080244 1 3565816 [A/C] NM_017818 WRAP73 Silent JHU_1.3566285 1 3566286 [T/G] NM_017818 WRAP73 Silent JHU_1.3568036 1 3568037 [T/C] rs6697769 1 3570883 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3574755 1 3574756 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs117634357 1 3574805 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs10910003 1 3575929 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs2224718 1 3576060 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3576169 1 3576170 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs10910004 1 3576197 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs4648545 1 3577321 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs140908635 1 3577657 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs78648315 1 3579060 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs12118148 1 3579466 [C/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3580270 1 3580271 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs74862930 1 3583440 [A/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3583691 1 3583692 [C/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs80074126 1 3583694 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3583758 1 3583759 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765692 1 3584771 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs7523732 1 3585041 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs1009345 1 3586428 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs75368081 1 3587266 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs117656734 1 3587300 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765695 1 3587377 [A/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3587504 1 3587505 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3589879 1 3589880 [C/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3590424 1 3590425 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3819954 1 3591143 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765703 1 3592436 [T/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3595704 1 3595705 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3595935 1 3595936 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent 1:3598964-GA 1 3598964 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_G12D,Missense_G12D,Missense_G12D,Missense_G12D,Missense_G12D,Missense_G12D rs57596460 1 3599514 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent 1:3599688-GA 1 3599688 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_G44R,Missense_G44R,Missense_G44R,Missense_G44R,Missense_G44R,Missense_G44R rs3765714 1 3601654 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765716 1 3601940 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3603277 1 3603278 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3603496 1 3603497 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3603694 1 3603695 [A/T] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3603925 1 3603926 [G/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3604188 1 3604189 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs1885872 1 3605097 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3606455 1 3606456 [T/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765725 1 3606550 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent 1:3607479-GA 1 3607479 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V4I,Missense_V4I,Missense_V4I,Missense_V4I,Missense_V4I,Missense_V4I rs751035 1 3608594 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3608838 1 3608839 [T/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs879622 1 3609173 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3765731 1 3611892 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3612293 1 3612294 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3612418 1 3612419 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3612989 1 3612990 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3613066 1 3613067 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3819958 1 3613067 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1077603 1 3613218 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3613738 1 3613739 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3614161 1 3614162 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12032272 1 3615156 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs112513747 1 3615254 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3765736 1 3616601 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3619108 1 3619109 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs111388076 1 3619999 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3621519 1 3621520 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115694533 1 3622073 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12086279 1 3622636 [T/A] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3623071 1 3623072 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3623133 1 3623134 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3623139 1 3623140 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs145204413 1 3624206 [A/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_P94T,Missense_P94T,Missense_P94T,Missense_P94T,Missense_P94T,Missense_P94T,Missense_P45T,Missense_P45T,Missense_P45T,Missense_P45T,Missense_P45T,Missense_P45T,Missense_P23T 1:3624206-CA 1 3624206 [A/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_P94T,Missense_P94T,Missense_P94T,Missense_P94T,Missense_P94T,Missense_P94T,Missense_P45T,Missense_P45T,Missense_P45T,Missense_P45T,Missense_P45T,Missense_P45T,Missense_P23T rs3765754 1 3625548 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3625721 1 3625722 [A/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2368540 1 3625768 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3625875 1 3625876 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3628430 1 3628431 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6424089 1 3628663 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3628932 1 3628933 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3753211 1 3632608 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3819967 1 3633380 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3765766 1 3634660 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3765767 1 3635465 [G/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs747828 1 3636226 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3637811 1 3637812 [A/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1801174 1 3638674 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Synonymous_T173T,Synonymous_T173T,Synonymous_T173T,Synonymous_T173T,Synonymous_T173T,Synonymous_T173T,Synonymous_T124T,Synonymous_T124T,Synonymous_T124T,Synonymous_T124T,Synonymous_T124T,Synonymous_T124T,Synonymous_T102T indel.409 1 3643747 [D/I] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON 1:3644277-CT 1 3644277 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_R310W,Missense_R310W,Missense_R310W,Missense_R310W,Missense_R310W,Missense_R310W,Missense_R261W,Missense_R261W,Missense_R261W,Missense_R261W,Missense_R261W,Missense_R261W,Missense_R239W chr1_3644311 1 3644311 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_K321R,Missense_K321R,Missense_K321R,Missense_K321R,Missense_K321R,Missense_K321R,Missense_K272R,Missense_K272R,Missense_K272R,Missense_K272R,Missense_K272R,Missense_K272R,Missense_K250R exm7380 1 3644322 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_A325T,Missense_A325T,Missense_A325T,Missense_A325T,Missense_A325T,Missense_A325T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A276T,Missense_A254T 1:3644722-GA 1 3644722 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_A339T,Missense_A339T,Missense_A339T,Missense_A339T,Missense_A339T,Missense_A339T,Missense_A290T,Missense_A290T,Missense_A290T,Missense_A290T,Missense_A290T,Missense_A290T,Missense_A268T 1:3644761-GA 1 3644761 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_E352K,Missense_E352K,Missense_E352K,Missense_E352K,Missense_E352K,Missense_E352K,Missense_E303K,Missense_E303K,Missense_E303K,Missense_E303K,Missense_E303K,Missense_E303K,Missense_E281K rs200330726 1 3645901 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R291Q exm7399 1 3645901 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R362Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R313Q,Missense_R291Q 1:3645945-CA 1 3645945 [A/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_L377M,Missense_L377M,Missense_L377M,Missense_L377M,Missense_L377M,Missense_L377M,Missense_L328M,Missense_L328M,Missense_L328M,Missense_L328M,Missense_L328M,Missense_L328M,Missense_L306M 1:3646646-GA 1 3646646 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Missense_V427I,Silent,Silent,Missense_V427I,Silent,Silent,Silent,Missense_V378I,Silent,Missense_V378I,Silent,Missense_V356I 1:3646674-CA 1 3646674 [A/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Missense_P436Q,Silent,Silent,Missense_P436Q,Silent,Silent,Silent,Missense_P387Q,Silent,Missense_P387Q,Silent,Missense_P365Q 1:3647594-GA 1 3647594 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Synonymous_P483P,Missense_A434T,Silent,Synonymous_P483P,Missense_A434T,Missense_A385T,Silent,Synonymous_P434P,Silent,Synonymous_P434P,Missense_A385T,Synonymous_P412P exm7419 1 3648066 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Synonymous_Y412Y,Synonymous_Y508Y,Silent,Silent,Silent,Missense_F459L,Missense_F410L,Synonymous_Y363Y,Silent,Silent,Synonymous_Y459Y,Silent,Synonymous_Y437Y JHU_1.3648253 1 3648254 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4648553 1 3648879 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:3649316-TG-T 1 3649316 [D/I] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON 1:3649440-TC 1 3649440 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_S474P,Missense_S570P,Missense_S489P,Silent,Silent,Silent,Silent,Missense_S425P,Silent,Silent,Missense_S521P,Missense_S440P,Missense_S499P 1:3649452-TC 1 3649452 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_S478P,Missense_S574P,Missense_S493P,Silent,Silent,Silent,Silent,Missense_S429P,Silent,Silent,Missense_S525P,Missense_S444P,Missense_S503P 1:3649488-GA 1 3649488 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_V490M,Missense_V586M,Missense_V505M,Silent,Silent,Silent,Silent,Missense_V441M,Silent,Silent,Missense_V537M,Missense_V456M,Missense_V515M exm1799309 1 3649503 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_R495C,Missense_R591C,Missense_R510C,Silent,Silent,Silent,Silent,Missense_R446C,Silent,Silent,Missense_R542C,Missense_R461C,Missense_R520C exm7442 1 3649542 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_G508S,Missense_G604S,Missense_G523S,Silent,Silent,Silent,Silent,Missense_G459S,Silent,Silent,Missense_G555S,Missense_G474S,Missense_G533S 1:3649545-GA 1 3649545 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_G509S,Missense_G605S,Missense_G524S,Silent,Silent,Silent,Silent,Missense_G460S,Silent,Silent,Missense_G556S,Missense_G475S,Missense_G534S 1:3649587-TG 1 3649587 [T/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_C523G,Missense_C619G,Missense_C538G,Silent,Silent,Silent,Silent,Missense_C474G,Silent,Silent,Missense_C570G,Missense_C489G,Missense_C548G exm7447 1 3649608 [A/G] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Missense_I530V,Missense_I626V,Missense_I545V,Silent,Silent,Silent,Silent,Missense_I481V,Silent,Silent,Missense_I577V,Missense_I496V,Missense_I555V rs12562437 1 3651031 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3651939 1 3651940 [T/C] NM_001204188,NM_005427,NM_001204187,NM_001204186,NM_001204184,NM_001204185,NM_001126242,NM_001204191,NM_001126241,NM_001204189,NM_001126240,NM_001204190,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs143353028 1 3652974 [C/G] NR_033712,NR_033710,NR_033711,NR_033708,NR_033709 TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1 EXON Silent,Silent,Silent,Silent,Silent JHU_1.3655140 1 3655141 [T/C] NR_033712,NR_033710,NR_033711,NR_033708,NR_033709 TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1 EXON Silent,Silent,Silent,Silent,Silent rs12117836 1 3657759 [A/G] NR_033712,NR_033710,NR_033711,NR_033708,NR_033709 TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1 Silent,Silent,Silent,Silent,Silent rs2298222 1 3659657 [A/G] NR_033712,NR_033710,NR_033711,NR_033708,NR_033709 TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1 EXON Silent,Silent,Silent,Silent,Silent 1:3669052-GA 1 3669052 [A/G] NM_152492 CCDC27 EXON Missense_E3K exm7485 1 3669106 [A/G] NM_152492 CCDC27 EXON Missense_K21E 1:3669163-TG 1 3669163 [T/G] NM_152492 CCDC27 EXON Missense_C40G 1:3669200-CT 1 3669200 [T/C] NM_152492 CCDC27 EXON Missense_P52L exm2233284 1 3669271 [T/C] NM_152492 CCDC27 EXON Missense_R76W exm7497 1 3669281 [A/G] NM_152492 CCDC27 EXON Missense_R79Q 1:3669299-CT 1 3669299 [T/C] NM_152492 CCDC27 EXON Missense_P85L exm7501 1 3669329 [T/C] NM_152492 CCDC27 EXON Missense_S95L exm7504 1 3669356 [A/G] NM_152492 CCDC27 EXON Missense_R104K exm7506 1 3669362 [T/C] NM_152492 CCDC27 EXON Missense_T106M exm7509 1 3670691 [A/G] NM_152492 CCDC27 EXON Missense_K110E exm7512 1 3670712 [A/G] NM_152492 CCDC27 EXON Missense_G117S rs72846550 1 3671607 [G/C] NM_152492 CCDC27 Silent JHU_1.3671775 1 3671776 [T/C] NM_152492 CCDC27 Silent exm7520 1 3672032 [T/G] NM_152492 CCDC27 EXON Nonsense_E152X 1:3672038-GA 1 3672038 [A/G] NM_152492 CCDC27 EXON Missense_D154N exm7522 1 3672048 [A/G] NM_152492 CCDC27 EXON Missense_G157E exm7529 1 3672108 [A/G] NM_152492 CCDC27 EXON Missense_R177Q JHU_1.3672991 1 3672992 [A/C] NM_152492 CCDC27 Silent variant.420 1 3673314 [A/C] NM_152492 CCDC27 EXON Missense_S191R newrs150537276 1 3673329 [T/G] NM_152492 CCDC27 EXON Nonsense_E196X 1:3673345-GA 1 3673345 [A/G] NM_152492 CCDC27 EXON Missense_R201Q JHU_1.3673480 1 3673481 [A/G] NM_152492 CCDC27 Silent rs41311979 1 3677818 [A/G] NM_152492 CCDC27 Silent exm2251521 1 3677854 [T/C] NM_152492 CCDC27 EXON Synonymous_L241L exm7551 1 3677933 [T/C] NM_152492 CCDC27 EXON Missense_M267T exm7554 1 3677983 [T/C] NM_152492 CCDC27 EXON Missense_P284S exm2251522 1 3679252 [A/G] NM_152492 CCDC27 EXON Synonymous_E310E exm7567 1 3679694 [T/C] NM_152492 CCDC27 EXON Missense_P326L 1:3679729-GT 1 3679729 [T/G] NM_152492 CCDC27 EXON Nonsense_E338X 1:3679755-GT 1 3679755 [T/G] NM_152492 CCDC27 EXON Missense_E346D 1:3679762-GT 1 3679762 [T/G] NM_152492 CCDC27 EXON Missense_G349W exm7574 1 3679775 [T/C] NM_152492 CCDC27 EXON Missense_T353M exm7575 1 3679783 [T/C] NM_152492 CCDC27 EXON Missense_W356R 1:3679813-CA 1 3679813 [A/C] NM_152492 CCDC27 EXON Missense_H366N exm7582 1 3679925 [T/C] NM_152492 CCDC27 EXON Missense_L403P exm7586 1 3679934 [T/C] NM_152492 CCDC27 EXON Missense_S406L chr1_3679964 1 3679964 [A/G] NM_152492 CCDC27 EXON Missense_E416G Variant37638 1 3679971 [T/C] NM_152492 CCDC27 EXON Synonymous_Y418Y exm7593 1 3680279 [T/C] NM_152492 CCDC27 EXON Missense_A444V exm7596 1 3680333 [T/C] NM_152492 CCDC27 EXON Missense_T462M exm7598 1 3680345 [T/C] NM_152492 CCDC27 EXON Missense_T466M exm7600 1 3680362 [T/C] NM_152492 CCDC27 EXON Nonsense_R472X exm7601 1 3680368 [T/C] NM_152492 CCDC27 EXON Missense_R474W exm7602 1 3680369 [A/G] NM_152492 CCDC27 EXON Missense_R474Q exm7603 1 3680377 [G/C] NM_152492 CCDC27 EXON Missense_Q477E exm7604 1 3680383 [A/C] NM_152492 CCDC27 EXON Missense_Q479K 1:3680399-AG 1 3680399 [A/G] NM_152492 CCDC27 EXON Missense_K484R JHU_1.3680480 1 3680481 [T/C] NM_152492 CCDC27 Silent JHU_1.3680655 1 3680656 [G/C] NM_152492 CCDC27 Silent rs1181874 1 3682070 [A/C] NM_152492 CCDC27 Silent exm7610 1 3683137 [C/G] NM_152492 CCDC27 EXON Missense_M497I 1:3683858-CT 1 3683858 [T/C] NM_152492 CCDC27 EXON Missense_T531I exm7617 1 3683914 [T/A] NM_152492 CCDC27 EXON Missense_W550R exm7623 1 3684005 [A/C] NM_152492 CCDC27 EXON Missense_S580Y rs78474288 1 3685771 [T/C] NM_152492 CCDC27 Silent exm2273606 1 3686350 [A/G] NM_152492 CCDC27 EXON Missense_E583K variant.429 1 3686357 [T/G] NM_152492 CCDC27 EXON Nonsense_L585X Variant12303 1 3688032 [I/D] NM_152492 CCDC27 EXON exm7635 1 3688053 [T/G] NM_152492 CCDC27 EXON Missense_L646R exm1799627 1 3688073 [A/G] NM_152492 CCDC27 EXON Missense_G653R JHU_1.3690396 1 3690397 [A/G] NM_001288583,NM_001163724 SMIM1,SMIM1 Silent,Silent JHU_1.3691400 1 3691401 [T/C] NM_001288583,NM_001163724 SMIM1,SMIM1 Silent,Silent rs1175549 1 3691727 [A/C] NM_001288583,NM_001163724 SMIM1,SMIM1 Silent,Silent 1:3691941-CT 1 3691941 [T/C] NM_001288583,NM_001163724 SMIM1,SMIM1 EXON Nonsense_Q2X,Nonsense_Q2X rs9424313 1 3693110 [A/C] rs34955593 1 3693225 [A/G] 1:3697663-CT 1 3697663 [T/C] NM_020710 LRRC47 EXON Missense_V581I exm7645 1 3697669 [C/G] NM_020710 LRRC47 EXON Missense_V579L exm7647 1 3697675 [G/C] NM_020710 LRRC47 EXON Missense_P577A 1:3697895-CA 1 3697895 [A/C] NM_020710 LRRC47 EXON Missense_M503I var_1_3698166 1 3698166 [T/C] NM_020710 LRRC47 Silent variant.434 1 3699220 [T/C] NM_020710 LRRC47 Silent exm7668 1 3700579 [A/T] NM_020710 LRRC47 EXON Missense_S431C JHU_1.3702187 1 3702188 [T/C] NM_020710 LRRC47 Silent JHU_1.3703333 1 3703334 [A/G] NM_020710 LRRC47 Silent JHU_1.3703336 1 3703337 [C/G] NM_020710 LRRC47 Silent JHU_1.3703369 1 3703370 [A/G] NM_020710 LRRC47 Silent 1:3703429-CT 1 3703429 [T/C] NM_020710 LRRC47 EXON Missense_R354H exm7684 1 3703430 [A/G] NM_020710 LRRC47 EXON Missense_R354C 1:3703493-GA 1 3703493 [A/G] NM_020710 LRRC47 EXON Missense_R333W exm7692 1 3703589 [T/C] NM_020710 LRRC47 EXON Missense_V301M JHU_1.3703709 1 3703710 [A/G] NM_020710 LRRC47 EXON Synonymous_V260V exm7703 1 3703715 [A/G] NM_020710 LRRC47 EXON Missense_R259C rs12142183 1 3704452 [T/G] NM_020710 LRRC47 Silent JHU_1.3705887 1 3705888 [A/G] NM_020710 LRRC47 Silent rs72846586 1 3706559 [C/G] NM_020710 LRRC47 Silent rs12728911 1 3709412 [T/C] NM_020710 LRRC47 Silent rs7513053 1 3709487 [A/G] NM_020710 LRRC47 Silent JHU_1.3712210 1 3712211 [T/A] NM_020710 LRRC47 Silent 1:3712548-GT 1 3712548 [T/G] NM_020710 LRRC47 EXON Missense_L165I 1:3712910-GT 1 3712910 [T/G] NM_020710 LRRC47 EXON Missense_P44Q rs77968670 1 3715794 [T/C] rs9424299 1 3716737 [A/G] JHU_1.3719620 1 3719621 [T/C] rs6691991 1 3721859 [C/G] JHU_1.3722466 1 3722467 [T/C] rs67003509 1 3727517 [T/A] 1:3731989-TC 1 3731989 [T/C] NM_014704 CEP104 EXON Missense_S919G chr1_3731993 1 3731993 [T/G] NM_014704 CEP104 EXON Missense_S917R rs6662706 1 3732596 [T/G] NM_014704 CEP104 Silent 1:3732828-CT 1 3732828 [T/C] NM_014704 CEP104 Silent exm7758 1 3732862 [A/C] NM_014704 CEP104 EXON Missense_A882S exm7759 1 3732885 [T/C] NM_014704 CEP104 EXON Missense_R874H rs11809965 1 3733161 [G/C] NM_014704 CEP104 Silent JHU_1.3737035 1 3737036 [A/G] NM_014704 CEP104 Silent rs72847433 1 3738950 [T/C] NM_014704 CEP104 Silent exm7762 1 3739740 [T/C] NM_014704 CEP104 EXON Missense_E857K exm1800028 1 3739745 [T/C] NM_014704 CEP104 EXON Missense_G855E variant.436 1 3739988 [A/G] NM_014704 CEP104 EXON Missense_P835S exm7767 1 3740068 [T/C] NM_014704 CEP104 EXON Missense_G808E 1:3740110-CT 1 3740110 [T/C] NM_014704 CEP104 EXON Missense_S794N JHU_1.3742178 1 3742179 [A/G] NM_014704 CEP104 Silent rs12759497 1 3742257 [T/C] NM_014704 CEP104 Silent exm7776 1 3742955 [A/G] NM_014704 CEP104 EXON Missense_P745L variant.437 1 3743271 [A/C] NM_014704 CEP104 Silent exm7783 1 3743278 [T/C] NM_014704 CEP104 EXON Missense_N728D rs6663840 1 3743319 [A/G] NM_014704 CEP104 Silent rs58111155 1 3743350 [G/C] NM_014704 CEP104 Silent rs6688969 1 3743391 [T/C] NM_014704 CEP104 Silent JHU_1.3744170 1 3744171 [T/C] NM_014704 CEP104 Silent 1:3745933-CT 1 3745933 [T/C] NM_014704 CEP104 EXON Missense_R683Q exm7796 1 3746432 [A/G] NM_014704 CEP104 EXON Missense_R656C exm7800 1 3746504 [T/C] NM_014704 CEP104 EXON Missense_I632V JHU_1.3746818 1 3746819 [T/C] NM_014704 CEP104 Silent exm7813 1 3747626 [A/G] NM_014704 CEP104 EXON Missense_I607T 1:3747696-CT 1 3747696 [T/C] NM_014704 CEP104 EXON Missense_A584T JHU_1.3748802 1 3748803 [A/G] NM_014704 CEP104 Silent JHU_1.3749114 1 3749115 [T/C] NM_014704 CEP104 Silent JHU_1.3750166 1 3750167 [A/G] NM_014704 CEP104 Silent 1:3750422-AG 1 3750422 [A/G] NM_014704 CEP104 Silent exm7818 1 3750449 [T/C] NM_014704 CEP104 EXON Missense_V546I exm7821 1 3750491 [T/C] NM_014704 CEP104 EXON Missense_V532I chr1_3750497 1 3750497 [T/C] NM_014704 CEP104 EXON Missense_I530V 1:3750515-GA 1 3750515 [A/G] NM_014704 CEP104 EXON Missense_H524Y variant.438 1 3751489 [A/G] NM_014704 CEP104 EXON Synonymous_S495S exm7833 1 3751634 [A/G] NM_014704 CEP104 EXON Missense_T447M 1:3753057-AT 1 3753057 [A/T] NM_014704 CEP104 Silent 1:3753076-CA 1 3753076 [A/C] NM_014704 CEP104 EXON Missense_V434L exm7840 1 3753079 [T/C] NM_014704 CEP104 EXON Missense_D433N exm7844 1 3753136 [A/T] NM_014704 CEP104 EXON Missense_L414I exm7845 1 3753150 [T/C] NM_014704 CEP104 EXON Missense_R409Q exm7846 1 3753157 [T/C] NM_014704 CEP104 EXON Missense_D407N exm7848 1 3753207 [T/C] NM_014704 CEP104 EXON Missense_H390R exm7856 1 3753972 [A/G] NM_014704 CEP104 EXON Nonsense_Q335X chr1_3754035 1 3754035 [T/C] NM_014704 CEP104 EXON Missense_S314G exm7859 1 3754043 [T/C] NM_014704 CEP104 EXON Missense_R311H chr1_3754069 1 3754069 [A/C] NM_014704 CEP104 EXON Missense_F302L 1:3755533-CT 1 3755533 [T/C] NM_014704 CEP104 EXON Missense_E296K variant.443 1 3755660 [A/C] NM_014704 CEP104 EXON Nonsense_Y253X exm7874 1 3756242 [T/C] NM_014704 CEP104 EXON Missense_R222Q exm7875 1 3756243 [A/G] NM_014704 CEP104 EXON Missense_R222W 1:3756288-CA 1 3756288 [A/C] NM_014704 CEP104 EXON Missense_D207Y exm7877 1 3756295 [T/C] NM_014704 CEP104 EXON Missense_M204I variant.444 1 3756342 [T/C] NM_014704 CEP104 Silent rs12744607 1 3757749 [A/G] NM_014704 CEP104 Silent 1:3759760-CA 1 3759760 [A/C] NM_014704 CEP104 Silent 1:3759784-AG 1 3759784 [A/G] NM_014704 CEP104 Silent 1:3759823-CA 1 3759823 [A/C] NM_014704 CEP104 Silent JHU_1.3761272 1 3761273 [A/G] NM_014704 CEP104 Silent exm7891 1 3761485 [T/A] NM_014704 CEP104 EXON Missense_E184D exm7892 1 3761487 [G/C] NM_014704 CEP104 EXON Missense_E184Q variant.445 1 3761541 [A/G] NM_014704 CEP104 EXON Nonsense_R166X exm7894 1 3761547 [A/C] NM_014704 CEP104 EXON Missense_A164S JHU_1.3761676 1 3761677 [T/C] NM_014704 CEP104 Silent 1:3761867-CT 1 3761867 [T/C] NM_014704 CEP104 EXON Missense_D159N rs186497481 1 3763065 [T/C] NM_014704 CEP104 Silent exm7898 1 3764049 [A/G] NM_014704 CEP104 EXON Missense_I139T exm7900 1 3764134 [A/G] NM_014704 CEP104 EXON Missense_R111W exm7901 1 3764173 [T/C] NM_014704 CEP104 EXON Missense_V98M exm7905 1 3765181 [T/C] NM_014704 CEP104 EXON Missense_R93Q exm7906 1 3765187 [T/C] NM_014704 CEP104 EXON Missense_R91Q exm7907 1 3765188 [A/G] NM_014704 CEP104 EXON Missense_R91W exm2251546 1 3765282 [T/C] NM_014704 CEP104 EXON Synonymous_L59L rs4648347 1 3765755 [T/C] NM_014704 CEP104 Silent JHU_1.3769970 1 3769971 [A/G] NM_014704 CEP104 Silent JHU_1.3772459 1 3772460 [T/C] NM_014704 CEP104 Silent rs4648426 1 3773089 [T/C] NM_014704 CEP104 Silent 1:3775316-AG 1 3775316 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_E50G,Silent,Silent,Missense_E50G,Silent,Silent,Silent,Silent exm7930 1 3775348 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_P61S,Silent,Silent,Missense_P61S,Silent,Silent,Silent,Silent JHU_1.3779720 1 3779721 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs114686914 1 3780364 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3781275 1 3781276 [A/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3782114 1 3782115 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:3782231-AAGACCCG-A 1 3782231 [I/D] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON 1:3782273-CA 1 3782273 [A/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10909810 1 3783278 [A/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3784100 1 3784101 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76754622 1 3784454 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.448 1 3784549 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Nonsense_R172X,Nonsense_R84X,Nonsense_R99X,Nonsense_R148X,Silent,Silent,Silent,Silent JHU_1.3784725 1 3784726 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3785084 1 3785085 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3785281 1 3785282 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34874218 1 3785423 [G/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:3786245-GA 1 3786245 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_R220K,Missense_R132K,Missense_R147K,Missense_R196K,Silent,Silent,Silent,Silent rs5013486 1 3786612 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3786964 1 3786965 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3787238 1 3787239 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:3789039-CT 1 3789039 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_P253S,Missense_P165S,Missense_P180S,Missense_P229S,Silent,Silent,Silent,Silent indel.451 1 3789042 [I/D] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON chr1_3789049 1 3789049 [T/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_M256R,Missense_M168R,Missense_M183R,Missense_M232R,Silent,Silent,Silent,Silent exm7983 1 3789061 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_L260S,Missense_L172S,Missense_L187S,Missense_L236S,Silent,Silent,Silent,Silent exm7984 1 3789087 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_S269G,Missense_S181G,Missense_S196G,Missense_S245G,Silent,Silent,Silent,Silent JHU_1.3789194 1 3789195 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3790331 1 3790332 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77027679 1 3791348 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs36081432 1 3792310 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7536320 1 3794286 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3794469 1 3794470 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3796133 1 3796134 [A/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs56070860 1 3796152 [C/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4074709 1 3796948 [T/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs61768959 1 3797309 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116294018 1 3797919 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4073324 1 3797995 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs80228892 1 3798073 [T/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2233302 1 3800118 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_K301R,Missense_K213R,Missense_K228R,Missense_K277R,Silent,Silent,Silent,Silent rs3205087 1 3800242 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Synonymous_P342P,Synonymous_P254P,Synonymous_P269P,Synonymous_P318P,Silent,Silent,Silent,Silent exm1800702 1 3800276 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_R354W,Missense_R266W,Missense_R281W,Missense_R330W,Silent,Silent,Silent,Silent exm7994 1 3800297 [T/C] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Missense_R361C,Missense_R273C,Missense_R288C,Missense_R337C,Silent,Silent,Silent,Silent JHU_1.3801827 1 3801828 [A/G] NM_001282669,NM_001320136,NM_001320132,NM_004402,NR_135151,NR_104222,NR_135150,NR_135152 DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB,DFFB EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.3802391 1 3802392 [A/G] rs11584721 1 3802771 [G/C] JHU_1.3802899 1 3802900 [A/G] rs7367066 1 3803755 [T/C] rs7530189 1 3805098 [T/C] exm8001 1 3806544 [T/C] NM_207356 C1orf174 EXON Missense_D238N 1:3806547-CT 1 3806547 [T/C] NM_207356 C1orf174 EXON Missense_D237N 1:3806549-GTCA-G 1 3806549 [I/D] NM_207356 C1orf174 EXON exm8005 1 3806595 [A/G] NM_207356 C1orf174 EXON Nonsense_R221X variant.453 1 3806595 [A/G] NM_207356 C1orf174 EXON Nonsense_R221X exm8006 1 3806610 [T/G] NM_207356 C1orf174 EXON Missense_P216T exm8010 1 3806624 [A/G] NM_207356 C1orf174 EXON Missense_A211V rs12073945 1 3806973 [A/G] NM_207356 C1orf174 Silent 1:3807216-TG 1 3807216 [T/G] NM_207356 C1orf174 EXON Missense_M179L indel.454 1 3807229 [I/D] NM_207356 C1orf174 EXON exm8021 1 3807291 [T/C] NM_207356 C1orf174 EXON Missense_N154D exm8024 1 3807312 [T/C] NM_207356 C1orf174 EXON Missense_G147R 1:3807332-GA 1 3807332 [A/G] NM_207356 C1orf174 EXON Missense_S140F exm8030 1 3807359 [T/C] NM_207356 C1orf174 EXON Missense_R131H exm8035 1 3807432 [T/C] NM_207356 C1orf174 EXON Missense_E107K exm8036 1 3807450 [A/C] NM_207356 C1orf174 EXON Missense_A101S exm8037 1 3807482 [T/G] NM_207356 C1orf174 EXON Missense_T90N exm8039 1 3807507 [A/C] NM_207356 C1orf174 EXON Missense_S82A variant.455 1 3807537 [A/G] NM_207356 C1orf174 EXON Nonsense_Q72X 1:3807563-TC 1 3807563 [T/C] NM_207356 C1orf174 EXON Missense_K63R exm8044 1 3807590 [T/C] NM_207356 C1orf174 EXON Missense_R54Q exm8045 1 3807593 [G/C] NM_207356 C1orf174 EXON Missense_T53R 1:3807621-TC 1 3807621 [T/C] NM_207356 C1orf174 EXON Missense_T44A rs79308453 1 3809299 [T/A] NM_207356 C1orf174 Silent exm8055 1 3809520 [T/C] NM_207356 C1orf174 EXON Missense_R19Q 1:3809521-GA 1 3809521 [A/G] NM_207356 C1orf174 EXON Nonsense_R19X exm8059 1 3809544 [T/C] NM_207356 C1orf174 EXON Missense_R11Q rs117832892 1 3812608 [T/C] NM_207356 C1orf174 Silent rs144862200 1 3812917 [A/G] NM_207356 C1orf174 Silent rs28623548 1 3817390 [T/C] NR_024455 LINC01134 Silent rs11589102 1 3821782 [A/G] NR_024455 LINC01134 Silent rs10909830 1 3822703 [T/C] NR_024455 LINC01134 Silent kgp9113347 1 3823395 [T/C] NR_024455 LINC01134 Silent rs76419011 1 3823804 [T/C] NR_024455 LINC01134 Silent JHU_1.3824178 1 3824179 [A/G] NR_024455 LINC01134 Silent JHU_1.3825069 1 3825070 [A/C] NR_024455 LINC01134 Silent rs35383955 1 3825525 [T/C] NR_024455 LINC01134 Silent JHU_1.3825710 1 3825711 [T/C] NR_024455 LINC01134 Silent JHU_1.3826236 1 3826237 [T/G] NR_024455 LINC01134 Silent JHU_1.3828901 1 3828902 [A/G] NR_024455 LINC01134 Silent rs186999704 1 3830864 [A/C] NR_024455 LINC01134 Silent JHU_1.3835428 1 3835429 [T/C] JHU_1.3835463 1 3835464 [T/A] rs80294302 1 3835967 [A/G] JHU_1.3836633 1 3836634 [G/C] rs77730699 1 3836642 [T/C] rs111276937 1 3838222 [A/G] rs36109325 1 3838400 [T/C] rs35025175 1 3840449 [T/C] rs35974482 1 3840878 [A/G] JHU_1.3841027 1 3841028 [C/G] JHU_1.3841226 1 3841227 [T/C] JHU_1.3843055 1 3843056 [A/G] JHU_1.3995764 1 3995765 [A/G] JHU_1.3995905 1 3995906 [T/C] JHU_1.3996074 1 3996075 [T/C] JHU_1.3996133 1 3996134 [T/C] JHU_1.3997586 1 3997587 [A/C] rs115885994 1 3997587 [A/C] rs12029677 1 3999043 [T/C] rs12405341 1 4000041 [C/G] rs10157948 1 4000091 [T/C] rs35304605 1 4001464 [C/G] NR_040065 LINC01346 Silent JHU_1.4002599 1 4002600 [T/C] NR_040065 LINC01346 Silent JHU_1.4002953 1 4002954 [T/C] NR_040065 LINC01346 Silent JHU_1.4003033 1 4003034 [T/C] NR_040065 LINC01346 Silent JHU_1.4003053 1 4003054 [T/G] NR_040065 LINC01346 Silent JHU_1.4003295 1 4003296 [T/C] NR_040065 LINC01346 Silent rs12079672 1 4003894 [A/G] NR_040065 LINC01346 Silent rs72640993 1 4004028 [T/C] NR_040065 LINC01346 Silent JHU_1.4005539 1 4005540 [T/C] NR_040065 LINC01346 Silent JHU_1.4005547 1 4005548 [A/G] NR_040065 LINC01346 Silent rs7524279 1 4005693 [A/G] NR_040065 LINC01346 Silent rs7548668 1 4006060 [T/C] NR_040065 LINC01346 Silent JHU_1.4007214 1 4007215 [T/A] NR_040065,NR_147024 LINC01346,LINC01345 EXON Silent,Silent rs78251451 1 4007639 [A/G] NR_040065,NR_147024 LINC01346,LINC01345 Silent,Silent JHU_1.4007776 1 4007777 [T/C] NR_040065,NR_147024 LINC01346,LINC01345 Silent,Silent JHU_1.4008000 1 4008001 [A/G] NR_040065,NR_147024 LINC01346,LINC01345 Silent,Silent rs72850803 1 4008669 [T/G] NR_040065,NR_147024 LINC01346,LINC01345 Silent,Silent JHU_1.4008947 1 4008948 [T/C] NR_040065,NR_147024 LINC01346,LINC01345 EXON Silent,Silent rs10799181 1 4009071 [T/C] NR_040065 LINC01346 Silent JHU_1.4009854 1 4009855 [T/C] NR_040065 LINC01346 Silent JHU_1.4009992 1 4009993 [A/G] NR_040065 LINC01346 Silent JHU_1.4010035 1 4010036 [A/G] NR_040065 LINC01346 Silent JHU_1.4010888 1 4010889 [T/C] NR_040065 LINC01346 Silent rs10753366 1 4013602 [A/C] rs12747375 1 4014534 [T/C] JHU_1.4014964 1 4014965 [T/A] rs12401537 1 4015668 [T/G] rs7522140 1 4017137 [T/C] JHU_1.4017549 1 4017550 [T/C] rs66490264 1 4020445 [A/G] JHU_1.4022519 1 4022520 [T/G] rs72850848 1 4024529 [A/G] rs10753373 1 4024927 [A/G] rs12031275 1 4026068 [A/G] rs7550609 1 4026098 [T/C] rs56073688 1 4030810 [T/C] rs12031557 1 4034097 [A/G] rs60072498 1 4034200 [A/G] rs117329980 1 4035105 [T/C] exm2268644 1 4037665 [T/C] rs72644269 1 4038359 [T/C] rs11587331 1 4039896 [T/C] JHU_1.4046628 1 4046629 [A/G] rs10449244 1 4047619 [A/C] JHU_1.4048104 1 4048105 [T/G] JHU_1.4054971 1 4054972 [A/C] JHU_1.4055279 1 4055280 [C/G] rs9426501 1 4055627 [T/C] 1:4056591-A-G 1 4056591 [A/G] rs12135298 1 4057488 [A/G] rs4654557 1 4058444 [T/C] JHU_1.4059926 1 4059927 [T/C] JHU_1.4059998 1 4059999 [A/C] JHU_1.4060150 1 4060151 [A/C] JHU_1.4060171 1 4060172 [C/G] JHU_1.4060195 1 4060196 [T/C] rs6672877 1 4061370 [T/G] rs7516738 1 4064515 [T/C] JHU_1.4065347 1 4065348 [T/C] JHU_1.4066510 1 4066511 [T/C] rs4128222 1 4066781 [A/C] rs68085961 1 4066956 [A/G] rs6675979 1 4068052 [A/G] JHU_1.4076372 1 4076373 [A/G] JHU_1.4076706 1 4076707 [T/C] rs4654601 1 4077707 [A/G] rs4129100 1 4078448 [A/G] rs7548273 1 4078945 [G/C] rs116991379 1 4080242 [T/C] rs12026010 1 4080742 [A/G] JHU_1.4082104 1 4082105 [T/G] JHU_1.4088156 1 4088157 [T/C] JHU_1.4088406 1 4088407 [C/G] JHU_1.4088479 1 4088480 [G/C] rs12062024 1 4089259 [T/A] JHU_1.4092077 1 4092078 [T/G] rs10915659 1 4092949 [A/G] rs12079493 1 4103822 [T/C] rs12036953 1 4104757 [A/G] rs10753347 1 4106651 [C/G] rs75864646 1 4107166 [T/C] rs77495118 1 4108150 [A/T] rs12031502 1 4108761 [T/G] JHU_1.4109398 1 4109399 [A/G] rs60034634 1 4109399 [A/G] JHU_1.4110783 1 4110784 [T/C] rs58967398 1 4110784 [T/C] JHU_1.4114900 1 4114901 [T/C] rs10799171 1 4115576 [T/C] rs10915357 1 4115837 [A/G] rs72853648 1 4117764 [A/G] JHU_1.4118861 1 4118862 [G/C] rs9792946 1 4119662 [A/G] rs4584362 1 4120209 [T/C] rs6426380 1 4120356 [T/C] rs4233258 1 4120898 [T/C] rs7524800 1 4121584 [A/G] JHU_1.4122498 1 4122499 [A/C] JHU_1.4122597 1 4122598 [A/G] JHU_1.4124259 1 4124260 [T/C] JHU_1.4125320 1 4125321 [T/A] JHU_1.4127661 1 4127662 [T/C] rs4654408 1 4127861 [T/C] rs16840701 1 4129266 [A/C] rs4130940 1 4130348 [A/G] JHU_1.4132250 1 4132251 [A/G] JHU_1.4133024 1 4133025 [A/G] JHU_1.4133034 1 4133035 [A/G] JHU_1.4133391 1 4133392 [T/G] rs6426384 1 4134715 [T/A] JHU_1.4139059 1 4139060 [A/G] rs4639725 1 4139931 [T/C] rs72847101 1 4142278 [T/G] JHU_1.4142284 1 4142285 [C/G] rs10915421 1 4145615 [T/C] rs10915422 1 4145875 [A/C] JHU_1.4147135 1 4147136 [G/C] rs115530964 1 4151121 [A/G] rs57146568 1 4151136 [T/C] rs4548406 1 4151751 [T/C] JHU_1.4153747 1 4153748 [T/C] rs55639740 1 4154548 [T/C] rs56329102 1 4155841 [A/G] JHU_1.4156199 1 4156200 [A/G] rs72629589 1 4158540 [T/C] rs117351314 1 4158553 [A/G] rs10915428 1 4158955 [T/G] rs77384844 1 4159681 [A/T] JHU_1.4159680 1 4159681 [A/T] rs77591952 1 4162563 [A/G] rs12073797 1 4165198 [A/G] rs76084603 1 4169067 [T/C] rs12077262 1 4170048 [T/C] rs7548756 1 4170249 [A/C] rs10492944 1 4171786 [T/C] rs10915434 1 4174116 [T/C] rs6670920 1 4176106 [T/C] rs115990293 1 4178990 [A/G] JHU_1.4179256 1 4179257 [T/C] rs72629597 1 4179643 [G/C] rs12566219 1 4180839 [A/G] rs12040805 1 4180842 [T/C] rs10915437 1 4183006 [A/G] rs10915438 1 4183258 [A/G] rs184181595 1 4186878 [A/G] rs57905980 1 4187821 [A/G] rs114008086 1 4189226 [T/C] JHU_1.4192396 1 4192397 [A/G] rs12568266 1 4193551 [A/G] rs4131507 1 4194712 [T/C] rs111557960 1 4195705 [T/C] rs6702633 1 4197035 [A/G] rs10915445 1 4197642 [A/G] rs57352098 1 4199172 [A/G] rs78386849 1 4200575 [T/C] JHU_1.4201965 1 4201966 [T/C] rs7542208 1 4202818 [A/G] rs58076045 1 4205447 [T/G] rs9426471 1 4206210 [T/C] JHU_1.4206831 1 4206832 [A/G] JHU_1.4206859 1 4206860 [A/G] 1:4207304-A-C 1 4207304 [A/C] rs6680278 1 4207343 [T/C] rs74880958 1 4209057 [A/G] rs6690263 1 4210164 [T/C] rs118063260 1 4210268 [T/C] rs6683453 1 4210402 [A/G] rs16840866 1 4212493 [A/G] JHU_1.4212603 1 4212604 [T/G] rs9988443 1 4216165 [A/G] JHU_1.4217285 1 4217286 [C/G] rs78688409 1 4217682 [A/G] rs191027691 1 4217760 [A/T] rs72851488 1 4218044 [T/C] rs3890797 1 4219093 [T/C] rs114367727 1 4219710 [T/C] rs75151855 1 4219747 [A/G] JHU_1.4220471 1 4220472 [G/C] rs4614226 1 4221599 [T/C] rs78314286 1 4224315 [T/C] JHU_1.4224314 1 4224315 [T/C] rs78485316 1 4225087 [T/C] rs16840873 1 4227320 [A/G] rs12123330 1 4227464 [T/C] rs4468133 1 4227634 [A/G] rs150594252 1 4227939 [A/G] JHU_1.4230921 1 4230922 [T/C] rs10915460 1 4231451 [A/G] rs6688343 1 4231757 [T/C] JHU_1.4231963 1 4231964 [T/C] JHU_1.4231976 1 4231977 [T/C] rs61770877 1 4233188 [A/G] rs6694801 1 4233380 [T/C] rs6695120 1 4233728 [T/C] rs6690519 1 4234513 [T/C] rs143502352 1 4239027 [T/C] rs4233264 1 4240178 [T/C] rs11808641 1 4250933 [A/G] rs138705988 1 4257347 [T/C] JHU_1.4262090 1 4262091 [A/T] JHU_1.4262993 1 4262994 [T/C] rs4654510 1 4263063 [T/G] rs6687268 1 4263677 [T/C] rs4654512 1 4263997 [A/G] rs115875601 1 4268495 [A/G] JHU_1.4268959 1 4268960 [A/C] rs34681506 1 4268960 [A/C] JHU_1.4271483 1 4271484 [A/G] rs12022636 1 4271526 [A/C] rs7553814 1 4271915 [A/G] rs7553919 1 4271973 [A/G] JHU_1.4273349 1 4273350 [T/C] rs4615813 1 4275876 [G/C] rs1532363 1 4276656 [T/C] rs10915479 1 4277948 [T/C] rs12119560 1 4278937 [C/G] rs11579829 1 4282786 [T/C] JHU_1.4284023 1 4284024 [C/G] rs903540 1 4284659 [T/C] JHU_1.4285970 1 4285971 [A/G] JHU_1.4286155 1 4286156 [T/C] JHU_1.4287904 1 4287905 [A/G] rs116060342 1 4288405 [T/C] rs10915480 1 4288803 [A/G] rs10799218 1 4289899 [T/C] rs71640915 1 4289935 [T/C] rs146782657 1 4292369 [T/C] JHU_1.4292382 1 4292383 [T/C] rs10158644 1 4292799 [A/G] rs75211396 1 4293883 [T/A] JHU_1.4295956 1 4295957 [T/G] JHU_1.4296928 1 4296929 [T/C] rs72631046 1 4300147 [A/G] rs11580697 1 4300158 [T/C] rs6679489 1 4309953 [A/G] rs12073856 1 4310961 [A/G] rs74052207 1 4313364 [T/G] exm-rs966321 1 4315204 [T/G] JHU_1.4315937 1 4315938 [A/G] rs2101576 1 4327635 [T/C] rs12087250 1 4328074 [T/C] rs10915494 1 4328476 [T/C] JHU_1.4332475 1 4332476 [A/C] rs116635425 1 4333653 [C/G] rs903541 1 4335893 [A/G] JHU_1.4337290 1 4337291 [A/T] JHU_1.4337421 1 4337422 [C/G] JHU_1.4338236 1 4338237 [A/G] rs75263049 1 4338586 [A/G] JHU_1.4338895 1 4338896 [T/C] rs988078 1 4338958 [A/G] JHU_1.4341247 1 4341248 [A/G] rs79086939 1 4341648 [T/C] rs1390136 1 4341843 [T/C] rs16838549 1 4343581 [A/G] rs114416436 1 4347773 [A/G] rs16838560 1 4351888 [T/C] rs1495248 1 4354744 [A/G] rs2029490 1 4355593 [A/G] JHU_1.4358264 1 4358265 [A/G] JHU_1.4359950 1 4359951 [T/C] rs34546429 1 4360348 [A/G] JHU_1.4362517 1 4362518 [T/G] JHU_1.4363033 1 4363034 [A/G] rs74049161 1 4363625 [T/C] exm2251770 1 4363735 [A/C] rs693734 1 4364226 [T/C] JHU_1.4364406 1 4364407 [A/G] JHU_1.4364415 1 4364416 [A/G] rs351625 1 4365471 [T/G] rs116019360 1 4367173 [A/G] rs1490413 1 4367323 [A/G] JHU_1.4367547 1 4367548 [A/G] JHU_1.4367581 1 4367582 [A/G] JHU_1.4367877 1 4367878 [A/G] JHU_1.4368166 1 4368167 [T/C] JHU_1.4368303 1 4368304 [A/C] JHU_1.4368440 1 4368441 [A/T] JHU_1.4368744 1 4368745 [A/G] rs351619 1 4368819 [A/G] rs1495239 1 4370074 [T/C] JHU_1.4370345 1 4370346 [A/C] rs351615 1 4370385 [A/G] JHU_1.4370458 1 4370459 [T/C] rs12073612 1 4370489 [A/G] rs12132314 1 4371949 [T/C] JHU_1.4372572 1 4372573 [A/C] rs10915509 1 4375859 [A/C] rs12408012 1 4379687 [A/G] JHU_1.4380502 1 4380503 [T/C] JHU_1.4383051 1 4383052 [A/G] rs79973051 1 4383738 [A/G] rs351606 1 4384056 [T/C] rs491572 1 4386359 [A/G] rs112710538 1 4388268 [T/C] rs2411740 1 4388684 [T/C] rs641473 1 4388885 [T/C] rs625079 1 4390289 [T/C] JHU_1.4390431 1 4390432 [T/C] JHU_1.4391870 1 4391871 [G/C] JHU_1.4393638 1 4393639 [A/G] rs6697034 1 4394565 [A/T] JHU_1.4394810 1 4394811 [T/C] rs549232 1 4394811 [T/C] rs74686118 1 4396441 [T/C] JHU_1.4396527 1 4396528 [T/C] 1:4336498_4336499ins 1 4396558 [I/D] rs111555716 1 4396839 [T/C] rs685494 1 4397703 [A/C] JHU_1.4398056 1 4398057 [A/C] JHU_1.4398058 1 4398059 [G/C] rs77860063 1 4401449 [T/C] rs11587563 1 4401450 [A/G] JHU_1.4401509 1 4401510 [G/C] JHU_1.4404076 1 4404077 [A/G] rs76930183 1 4404146 [A/G] rs117292334 1 4405411 [T/G] rs10799228 1 4405998 [A/G] rs79099871 1 4408440 [T/C] rs72631078 1 4409252 [A/C] JHU_1.4409251 1 4409252 [A/C] rs600933 1 4409496 [T/C] rs114295570 1 4411626 [T/G] JHU_1.4412613 1 4412614 [A/G] rs79001978 1 4413470 [A/G] rs528291 1 4414045 [A/G] rs1531328 1 4418164 [A/G] rs349393 1 4419820 [A/C] rs17410050 1 4419997 [T/C] rs79426491 1 4423030 [T/C] rs12742617 1 4425255 [T/G] rs75411 1 4425414 [T/C] rs12404619 1 4426085 [T/C] rs78458484 1 4426359 [A/C] rs572439 1 4431264 [A/C] rs146838662 1 4431305 [T/C] rs12028738 1 4431571 [A/G] JHU_1.4432851 1 4432852 [A/G] JHU_1.4433000 1 4433001 [T/C] rs75456303 1 4436638 [T/G] JHU_1.4440636 1 4440637 [A/G] rs1845635 1 4441089 [A/G] rs192584445 1 4443599 [T/C] rs239339 1 4444539 [T/G] rs7418714 1 4446996 [T/G] JHU_1.4450079 1 4450080 [T/C] JHU_1.4452403 1 4452404 [T/A] JHU_1.4452437 1 4452438 [G/C] JHU_1.4452454 1 4452455 [T/C] JHU_1.4455909 1 4455910 [T/C] rs7521665 1 4456277 [A/G] JHU_1.4461813 1 4461814 [A/G] rs349400 1 4462460 [T/G] rs349401 1 4463585 [T/G] rs577114 1 4466908 [T/C] rs10799232 1 4467974 [A/G] rs17451926 1 4468118 [T/A] JHU_1.4469003 1 4469004 [C/G] 1:4469068-A-G 1 4469068 [A/G] rs11576495 1 4469559 [T/G] rs114060995 1 4472376 [T/A] NR_027088 LINC01777 EXON Silent rs349407 1 4476273 [A/G] NR_027088 LINC01777 Silent JHU_1.4477794 1 4477795 [A/C] NR_027088 LINC01777 Silent JHU_1.4480276 1 4480277 [C/G] NR_027088 LINC01777 Silent rs4654432 1 4481215 [T/C] NR_027088 LINC01777 Silent JHU_1.4484515 1 4484516 [T/C] NR_027088 LINC01777 EXON Silent JHU_1.4485613 1 4485614 [T/G] JHU_1.4487277 1 4487278 [A/G] rs12029910 1 4488779 [A/G] rs6658372 1 4488979 [A/G] rs6678792 1 4489398 [T/C] rs10915535 1 4491460 [T/G] JHU_1.4491952 1 4491953 [A/G] rs1556691 1 4493215 [A/G] rs60332560 1 4493362 [A/G] JHU_1.4495723 1 4495724 [T/C] JHU_1.4495773 1 4495774 [T/C] rs1762814 1 4496256 [T/C] rs77633111 1 4497313 [A/G] rs74049662 1 4500267 [A/G] rs12731060 1 4500436 [T/C] rs12128230 1 4501911 [A/C] rs780574 1 4502198 [A/G] rs780588 1 4506325 [T/G] rs780593 1 4507743 [T/C] JHU_1.4508147 1 4508148 [T/C] JHU_1.4510805 1 4510806 [T/C] rs922114 1 4511421 [T/C] 1:4511950-T-C 1 4511950 [T/C] JHU_1.4513458 1 4513459 [A/G] JHU_1.4514452 1 4514453 [A/G] rs12691489 1 4516259 [A/G] rs666152 1 4518202 [T/G] rs12757108 1 4521519 [A/G] rs72633529 1 4523324 [A/G] rs16839061 1 4526751 [T/C] rs6426414 1 4527772 [A/G] rs1878054 1 4528773 [A/T] rs74052805 1 4529283 [T/C] JHU_1.4530401 1 4530402 [T/A] rs12143782 1 4534350 [T/C] rs350168 1 4534520 [T/C] rs55653177 1 4534969 [T/C] exm2260335 1 4541390 [A/C] rs183738646 1 4541751 [T/G] rs114240781 1 4542308 [T/C] rs6656245 1 4543663 [A/G] rs16839098 1 4544815 [T/C] rs350182 1 4548292 [A/G] rs705689 1 4549307 [T/G] rs705690 1 4549380 [A/G] JHU_1.4549480 1 4549481 [A/G] JHU_1.4552481 1 4552482 [A/C] rs1878052 1 4552802 [A/G] JHU_1.4557316 1 4557317 [T/C] JHU_1.4557469 1 4557470 [A/T] rs12029583 1 4558027 [T/C] rs609506 1 4558933 [T/C] rs616317 1 4559484 [A/C] rs144259486 1 4559772 [T/C] rs582598 1 4561962 [A/C] rs144491926 1 4562139 [T/C] rs12133282 1 4565951 [T/G] rs4654441 1 4566515 [A/G] JHU_1.4567157 1 4567158 [G/C] rs1018306 1 4567165 [A/G] JHU_1.4567439 1 4567440 [T/C] rs780569 1 4569436 [T/A] rs780568 1 4569834 [A/G] JHU_1.4571159 1 4571160 [A/G] JHU_1.4572463 1 4572464 [A/G] rs74830357 1 4572753 [A/T] rs79383560 1 4574090 [A/G] rs1710422 1 4574117 [T/C] JHU_1.4574349 1 4574350 [T/C] rs10737413 1 4576271 [T/C] JHU_1.4577154 1 4577155 [A/G] rs6703696 1 4578495 [A/G] rs12035830 1 4579733 [A/G] rs518456 1 4582089 [T/G] rs241240 1 4586306 [T/G] JHU_1.4586669 1 4586670 [T/C] JHU_1.4586792 1 4586793 [T/C] rs241239 1 4587177 [A/G] rs144661017 1 4588099 [T/C] JHU_1.4588779 1 4588780 [A/G] rs116105448 1 4588789 [T/A] rs114542385 1 4590126 [T/C] rs241232 1 4590969 [A/G] rs12567893 1 4591085 [G/C] rs537398 1 4594603 [T/C] JHU_1.4596010 1 4596011 [A/C] rs12080165 1 4596700 [T/G] rs592726 1 4599243 [T/C] JHU_1.4600852 1 4600853 [T/C] JHU_1.4601134 1 4601135 [A/G] rs74773514 1 4602986 [A/G] rs7534050 1 4603127 [T/C] rs112721082 1 4606115 [T/G] JHU_1.4606395 1 4606396 [A/G] rs12728076 1 4612840 [T/C] JHU_1.4612928 1 4612929 [C/G] exm-rs241257 1 4614822 [T/C] rs4654556 1 4615331 [T/C] rs72852789 1 4615934 [T/G] rs6685798 1 4618251 [A/G] rs241264 1 4619038 [T/C] rs12120353 1 4620996 [A/C] rs6698529 1 4621464 [A/G] rs373251260 1 4621622 [A/G] rs241273 1 4627077 [A/C] rs241277 1 4629186 [A/C] rs241278 1 4629408 [T/C] rs116731785 1 4629573 [T/C] rs80308628 1 4631310 [A/G] rs171317 1 4632828 [A/C] NR_147025 LINC01646 Silent rs7534062 1 4633238 [T/C] NR_147025 LINC01646 Silent rs12075731 1 4633404 [A/C] NR_147025 LINC01646 Silent rs6426421 1 4633639 [T/C] NR_147025 LINC01646 Silent rs241208 1 4633885 [T/C] NR_147025 LINC01646 Silent rs1541318 1 4634978 [A/G] NR_147025 LINC01646 Silent rs1157688 1 4636767 [T/C] NR_147025 LINC01646 Silent rs1024139 1 4640902 [T/C] NR_147025 LINC01646 Silent rs12036574 1 4642515 [T/C] NR_147025 LINC01646 EXON Silent rs725563 1 4643472 [T/G] NR_147025 LINC01646 EXON Silent rs616180 1 4645704 [T/G] rs619364 1 4646379 [A/G] rs79006083 1 4646500 [T/C] JHU_1.4647157 1 4647158 [G/C] JHU_1.4647174 1 4647175 [T/C] rs644647 1 4647469 [A/C] rs10915566 1 4648780 [T/C] rs1849943 1 4649316 [A/G] rs164772 1 4652512 [T/C] rs61767668 1 4654329 [A/G] rs6426423 1 4656147 [A/C] JHU_1.4659902 1 4659903 [A/G] rs537761 1 4662408 [A/C] rs140350409 1 4662909 [A/G] JHU_1.4663441 1 4663442 [A/G] rs164783 1 4664614 [A/C] rs3896439 1 4668670 [A/G] rs56412733 1 4669624 [G/C] JHU_1.4674428 1 4674429 [T/C] JHU_1.4674438 1 4674439 [A/C] rs115539632 1 4675292 [A/G] rs4654569 1 4675555 [A/G] JHU_1.4675976 1 4675977 [T/G] JHU_1.4676643 1 4676644 [A/C] rs1564671 1 4677185 [A/C] JHU_1.4678199 1 4678200 [T/C] JHU_1.4679510 1 4679511 [T/C] rs12145928 1 4679563 [C/G] rs4654574 1 4679731 [T/C] rs11802858 1 4682515 [T/C] rs12029434 1 4682722 [T/C] rs115716234 1 4682803 [T/A] rs12029673 1 4684090 [A/G] rs1107467 1 4685222 [A/G] rs875807 1 4685672 [A/G] JHU_1.4685906 1 4685907 [A/G] rs6662425 1 4688033 [G/C] rs113994594 1 4690497 [A/G] rs7526898 1 4690718 [G/C] rs7527078 1 4690893 [T/C] rs6680594 1 4690918 [T/C] rs10799249 1 4691860 [T/C] JHU_1.4691894 1 4691895 [T/C] JHU_1.4695268 1 4695269 [T/C] rs75765799 1 4697215 [A/G] rs114975221 1 4698430 [A/G] rs12122754 1 4698559 [T/C] rs76059212 1 4698677 [A/G] rs34719749 1 4700472 [A/G] rs10915575 1 4701258 [T/C] rs61764994 1 4702296 [A/G] rs74727341 1 4704223 [A/C] rs2035453 1 4704955 [T/C] rs7533451 1 4705931 [A/G] rs12125737 1 4706755 [T/C] JHU_1.4709347 1 4709348 [A/C] rs149274442 1 4711221 [A/C] JHU_1.4713220 1 4713221 [A/C] rs12127797 1 4716928 [C/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs900501 1 4717340 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs1483198 1 4717391 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2035454 1 4722431 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs1531830 1 4722443 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12408160 1 4723046 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4723437 1 4723438 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12083131 1 4723818 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4724631 1 4724632 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs17421247 1 4724957 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs11588149 1 4725496 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs7517857 1 4725585 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs61765004 1 4726073 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12567266 1 4726454 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs4654582 1 4730283 [A/T] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs4281299 1 4730960 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs16839422 1 4730964 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4731446 1 4731447 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs10799256 1 4731689 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs4654585 1 4733239 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs16839447 1 4735908 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs115426150 1 4737666 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4738039 1 4738040 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2071990 1 4738058 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2071995 1 4738678 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs763238 1 4743704 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs17344940 1 4744206 [T/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs10915587 1 4746636 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4750012 1 4750013 [C/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4750118 1 4750119 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4750266 1 4750267 [A/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4750554 1 4750555 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4751246 1 4751247 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs114303740 1 4751550 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4751763 1 4751764 [A/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4751994 1 4751995 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4752087 1 4752088 [C/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs4654587 1 4752960 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs7525374 1 4754057 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4756664 1 4756665 [C/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs6669203 1 4757876 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2071997 1 4758169 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs6661745 1 4758321 [C/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12121882 1 4758327 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4758665 1 4758666 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2071998 1 4759050 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs78451304 1 4759628 [C/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs72638818 1 4760312 [A/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs75831216 1 4761251 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs35923204 1 4766739 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs6688423 1 4768540 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs61765036 1 4768706 [C/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4769330 1 4769331 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4771453 1 4771454 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs989309 1 4771665 [C/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent 1:4771979-CT 1 4771979 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_P17S,Missense_P17S exm8086 1 4772034 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_A35V,Missense_A35V 1:4772244-GT 1 4772244 [T/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_R105L,Missense_R105L 1:4772349-CT 1 4772349 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_A140V,Missense_A140V 1:4772447-CT 1 4772447 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_R173W,Missense_R173W 1:4772448-GA 1 4772448 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_R173Q,Missense_R173Q exm8107 1 4772462 [T/A] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T178S,Missense_T178S exm8113 1 4772535 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_G202D,Missense_G202D exm8120 1 4772585 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T219A,Missense_T219A exm8121 1 4772619 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T230M,Missense_T230M exm8123 1 4772658 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_R243Q,Missense_R243Q 1:4772700-CT 1 4772700 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T257I,Missense_T257I exm8127 1 4772717 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_G263R,Missense_G263R rs3766954 1 4773683 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs67730516 1 4774236 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs242058 1 4774438 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs3753696 1 4776974 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent 1:4777957-C-G 1 4777957 [C/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4779954 1 4779955 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs3820251 1 4781151 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12135881 1 4781922 [G/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs76096164 1 4783028 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs78520929 1 4783466 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs3820252 1 4784556 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs142259951 1 4784559 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs3820253 1 4784884 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4785448 1 4785449 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs148887061 1 4785768 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs242044 1 4787119 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs3766962 1 4788354 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs242050 1 4789179 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs3766964 1 4792184 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs3766965 1 4793137 [A/T] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4795745 1 4795746 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs118127639 1 4795780 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs435239 1 4795816 [G/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs61765059 1 4798300 [T/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs75801608 1 4799110 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs3753702 1 4799200 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs115486560 1 4801728 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs144971746 1 4802863 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4804482 1 4804483 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4805033 1 4805034 [A/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs409048 1 4805674 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs7532708 1 4806207 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs368808 1 4806381 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs11586743 1 4806550 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2802720 1 4809120 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs72639906 1 4813360 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs434504 1 4815477 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs549458 1 4815827 [A/T] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4815826 1 4815827 [A/T] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs72639916 1 4817335 [T/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs11591221 1 4817508 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4818876 1 4818877 [G/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4819146 1 4819147 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs523141 1 4819667 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent JHU_1.4820864 1 4820865 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs879092 1 4820966 [T/A] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs137930463 1 4821221 [A/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12119789 1 4823492 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12066439 1 4824311 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent 1:4827956-C-G 1 4827956 [G/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs426095 1 4828063 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent exm8132 1 4829963 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_I294V,Missense_I294V rs115280211 1 4830111 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs410413 1 4830406 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs442023 1 4830725 [A/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs9426483 1 4830900 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs423285 1 4831076 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs428580 1 4831611 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12030265 1 4831752 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent exm2251963 1 4832482 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Synonymous_L354L,Synonymous_L354L exm8143 1 4832549 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T376M,Missense_T376M exm1821556 1 4832552 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T377M,Missense_T377M exm8145 1 4832569 [A/C] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_T383P,Missense_T383P rs10915598 1 4833374 [T/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs3766977 1 4833498 [T/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent 1:4834504-GA 1 4834504 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_R394Q,Missense_R394Q rs399377 1 4835375 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs144265404 1 4837801 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Silent,Silent rs3753732 1 4838249 [A/C] NM_018836 AJAP1 Silent rs114825202 1 4840319 [A/C] NM_018836 AJAP1 Silent JHU_1.4843522 1 4843523 [A/G] NM_018836 AJAP1 EXON Silent rs9426506 1 4844376 [T/C] JHU_1.4846083 1 4846084 [T/A] JHU_1.4846462 1 4846463 [T/A] rs11805709 1 4847594 [T/C] rs4654460 1 4847845 [A/G] JHU_1.4851756 1 4851757 [A/G] rs74051839 1 4851792 [T/C] rs6662606 1 4851899 [A/G] JHU_1.4853909 1 4853910 [T/C] JHU_1.4854324 1 4854325 [T/A] JHU_1.4856334 1 4856335 [A/C] rs72639948 1 4858391 [A/G] rs17345280 1 4859537 [A/C] rs61190545 1 4859565 [T/A] rs12089516 1 4859727 [A/G] JHU_1.4860418 1 4860419 [A/G] rs4654607 1 4861160 [T/C] rs4654609 1 4861603 [T/C] rs760817 1 4863913 [T/C] rs114027421 1 4864886 [A/G] rs10429868 1 4865858 [A/G] JHU_1.4867751 1 4867752 [A/C] rs10799262 1 4872571 [A/G] rs10915611 1 4872651 [T/C] rs185604136 1 4877901 [T/C] JHU_1.4877924 1 4877925 [A/G] JHU_1.4878557 1 4878558 [A/G] JHU_1.4879444 1 4879445 [T/C] rs2050010 1 4880917 [A/C] rs12122126 1 4881267 [T/C] JHU_1.4887689 1 4887690 [T/C] rs2181699 1 4888012 [T/G] rs12028621 1 4888723 [A/T] rs10799265 1 4889604 [T/C] rs72850530 1 4891177 [A/T] rs2025378 1 4891736 [T/C] JHU_1.4893369 1 4893370 [T/C] rs116225813 1 4894183 [T/C] rs79287601 1 4898473 [T/C] rs113559896 1 4904313 [T/A] rs10915626 1 4906783 [A/G] rs116643980 1 4907719 [T/G] rs6683849 1 4908901 [A/G] rs77657634 1 4910026 [T/C] JHU_1.4911597 1 4911598 [A/G] rs7549868 1 4912726 [A/G] JHU_1.4913721 1 4913722 [T/C] rs6426440 1 4914910 [A/C] rs111405923 1 4916149 [T/G] rs10915644 1 4927798 [T/C] rs10915645 1 4928187 [T/G] rs80149492 1 4930127 [A/G] JHU_1.4930240 1 4930241 [A/G] rs76647621 1 4931045 [A/G] rs114003128 1 4931974 [T/C] rs10489138 1 4934067 [T/C] rs7539101 1 4940715 [T/C] JHU_1.4942364 1 4942365 [T/C] rs7543026 1 4944842 [A/G] JHU_1.4946267 1 4946268 [T/C] rs112601312 1 4949615 [A/C] rs111892685 1 4950489 [A/G] rs6664880 1 4952788 [A/G] JHU_1.4953817 1 4953818 [A/G] rs12025356 1 4954746 [A/G] rs6426446 1 4955862 [T/C] exm2268645 1 4955862 [T/C] rs10799272 1 4958591 [A/G] rs10915660 1 4964506 [T/C] JHU_1.4967060 1 4967061 [A/G] rs6678459 1 4968528 [T/C] JHU_1.4969652 1 4969653 [A/G] rs12034557 1 4971507 [T/C] rs11805753 1 4973107 [T/C] rs10915668 1 4973301 [T/C] JHU_1.4974212 1 4974213 [T/C] rs188456541 1 4974724 [G/C] rs12035499 1 4980692 [A/G] rs72851897 1 4980703 [T/C] JHU_1.4981299 1 4981300 [T/C] rs942245 1 4981503 [A/G] rs11585340 1 4983840 [C/G] rs1886110 1 4986306 [A/G] JHU_1.4986683 1 4986684 [T/C] rs6666453 1 4987424 [T/G] rs12567162 1 4988063 [A/C] JHU_1.4988917 1 4988918 [T/G] rs9426486 1 4989251 [A/G] rs2898853 1 4992204 [T/C] JHU_1.4992344 1 4992345 [T/C] rs6675977 1 4992681 [T/C] rs35357722 1 4993039 [A/G] rs10915683 1 4996185 [A/G] rs12037632 1 4996661 [T/C] rs9426468 1 4998385 [A/G] JHU_1.4999448 1 4999449 [T/G] JHU_1.4999501 1 4999502 [G/C] 1:4939476_4939477ins 1 4999536 [D/I] JHU_1.5001487 1 5001488 [T/G] JHU_1.5001595 1 5001596 [A/G] JHU_1.5001646 1 5001647 [A/G] JHU_1.5001743 1 5001744 [A/C] JHU_1.5001808 1 5001809 [A/G] JHU_1.5001834 1 5001835 [A/G] JHU_1.5002067 1 5002068 [T/A] rs7555632 1 5002824 [T/C] rs9286971 1 5003504 [A/G] rs142056655 1 5006503 [G/C] JHU_1.5009592 1 5009593 [C/G] rs9426490 1 5011402 [A/G] rs10915298 1 5012301 [A/G] rs35590048 1 5013563 [A/G] rs74653811 1 5015676 [T/C] rs6656223 1 5015844 [A/G] rs74052591 1 5017887 [T/A] JHU_1.5021078 1 5021079 [A/G] rs10799145 1 5021200 [T/G] rs55899550 1 5021544 [A/G] rs6426374 1 5023156 [A/G] rs12754637 1 5023321 [A/G] JHU_1.5024384 1 5024385 [T/G] rs58303122 1 5024775 [T/G] JHU_1.5024840 1 5024841 [G/C] JHU_1.5025585 1 5025586 [A/G] JHU_1.5027604 1 5027605 [A/G] JHU_1.5029530 1 5029531 [A/C] rs7535462 1 5033661 [A/G] rs193271851 1 5033922 [A/G] rs76290374 1 5034174 [A/G] rs12757902 1 5036234 [A/G] rs12122541 1 5036622 [A/G] rs898335 1 5036777 [T/G] rs74054018 1 5037194 [T/C] JHU_1.5037659 1 5037660 [A/G] rs6702377 1 5037892 [C/G] JHU_1.5038092 1 5038093 [A/C] JHU_1.5038410 1 5038411 [T/C] JHU_1.5039241 1 5039242 [A/C] rs72854128 1 5041764 [T/C] JHU_1.5041893 1 5041894 [A/C] rs1563791 1 5043734 [A/C] rs6674570 1 5044089 [C/G] rs79254893 1 5047010 [T/C] rs7365286 1 5047163 [T/C] JHU_1.5051632 1 5051633 [T/G] rs6683624 1 5051710 [T/C] rs7418901 1 5053263 [T/C] rs115624725 1 5060046 [G/C] rs10158288 1 5061519 [T/C] rs10915310 1 5068210 [A/G] rs34951087 1 5069170 [T/G] rs12045336 1 5070663 [A/G] JHU_1.5070757 1 5070758 [G/C] rs1870516 1 5072295 [T/C] JHU_1.5072693 1 5072694 [A/G] rs9286975 1 5073092 [A/G] rs1459757 1 5073239 [A/G] rs10799152 1 5073658 [A/C] rs10915314 1 5076322 [C/G] JHU_1.5078129 1 5078130 [T/C] rs9439575 1 5085955 [A/G] rs1459765 1 5088062 [T/C] JHU_1.5090996 1 5090997 [A/G] rs6693990 1 5094435 [A/G] JHU_1.5095213 1 5095214 [T/C] rs1459762 1 5095862 [T/C] 1:5095864-T-C 1 5095864 [T/C] JHU_1.5098719 1 5098720 [T/C] rs77810796 1 5099400 [T/C] rs10915324 1 5103621 [A/G] JHU_1.5113762 1 5113763 [T/A] rs10915329 1 5114102 [T/C] JHU_1.5122776 1 5122777 [A/G] rs1563792 1 5124859 [A/G] JHU_1.5125607 1 5125608 [T/A] rs6603832 1 5127543 [A/G] rs76062163 1 5136215 [T/A] JHU_1.5136476 1 5136477 [T/C] rs56077964 1 5137114 [A/G] rs12089885 1 5138792 [T/C] rs11590026 1 5140226 [A/G] JHU_1.5141072 1 5141073 [T/A] rs3128687 1 5141293 [T/G] rs10915341 1 5142552 [T/G] JHU_1.5143736 1 5143737 [T/G] rs6680801 1 5145066 [A/G] rs12120144 1 5145463 [T/G] rs117987617 1 5145774 [T/G] rs112536368 1 5146338 [T/C] rs3101214 1 5150534 [A/G] rs2290848 1 5151437 [A/C] JHU_1.5151952 1 5151953 [A/C] rs9803863 1 5158857 [A/G] rs2242157 1 5160662 [T/G] JHU_1.5165772 1 5165773 [A/C] JHU_1.5166449 1 5166450 [A/C] rs57000660 1 5166480 [A/G] rs77069607 1 5167773 [T/C] JHU_1.5168002 1 5168003 [T/A] rs10733013 1 5168663 [T/C] rs56359979 1 5169103 [A/G] rs2722784 1 5169304 [A/C] exm-rs7513590 1 5170712 [A/G] rs2611424 1 5174078 [A/G] rs10799170 1 5179530 [A/C] rs76871849 1 5179715 [A/G] JHU_1.5180284 1 5180285 [A/G] JHU_1.5182123 1 5182124 [T/G] rs61762187 1 5187278 [A/G] rs3128690 1 5189146 [T/A] rs6671889 1 5192703 [A/C] JHU_1.5192803 1 5192804 [T/G] JHU_1.5193732 1 5193733 [T/C] JHU_1.5193920 1 5193921 [T/C] rs10492925 1 5195371 [T/C] rs9439506 1 5196739 [A/G] rs76000552 1 5197054 [A/C] rs10799173 1 5197977 [T/C] rs114981055 1 5201227 [A/G] rs79753066 1 5202617 [T/C] JHU_1.5202616 1 5202617 [T/C] JHU_1.5204883 1 5204884 [A/G] rs12121369 1 5210124 [A/C] rs12027352 1 5211338 [T/C] rs113143936 1 5217656 [A/G] JHU_1.5217879 1 5217880 [A/C] rs9439511 1 5218601 [T/C] JHU_1.5219271 1 5219272 [A/C] rs182008439 1 5224111 [T/G] rs17366543 1 5224616 [A/G] rs78059013 1 5225731 [A/T] rs10915367 1 5227123 [A/G] JHU_1.5227507 1 5227508 [T/G] rs16840071 1 5229311 [A/G] rs6603817 1 5229819 [A/G] rs4394703 1 5231892 [A/C] rs78837890 1 5232281 [T/G] rs9286977 1 5233284 [A/C] JHU_1.5233692 1 5233693 [A/G] rs80065147 1 5236814 [A/G] rs7547229 1 5240211 [T/C] rs79307425 1 5244367 [T/C] rs6665697 1 5248541 [T/C] rs72636456 1 5254026 [A/G] rs139807191 1 5255488 [A/G] rs2722781 1 5257229 [T/C] rs7528871 1 5259095 [A/C] JHU_1.5263288 1 5263289 [T/G] rs12043987 1 5264697 [A/G] rs2722790 1 5266518 [T/C] rs75956715 1 5266979 [T/C] rs16840177 1 5267783 [T/C] rs6603821 1 5267850 [A/G] rs12140099 1 5270277 [A/G] JHU_1.5282027 1 5282028 [A/G] rs16840190 1 5282726 [T/C] rs16840193 1 5282727 [A/G] rs7546667 1 5282817 [A/G] rs938962 1 5283942 [T/C] rs4259664 1 5287108 [T/G] rs72636478 1 5288312 [T/C] JHU_1.5290581 1 5290582 [T/C] JHU_1.5293327 1 5293328 [T/C] rs677735 1 5295176 [A/G] rs2353169 1 5296844 [T/C] rs586165 1 5297887 [T/C] rs12066405 1 5302528 [A/G] JHU_1.5302558 1 5302559 [T/G] JHU_1.5303047 1 5303048 [T/C] rs76964255 1 5303786 [A/G] rs521430 1 5307076 [T/C] rs7534404 1 5309255 [A/G] rs12135834 1 5309667 [T/C] rs670971 1 5312308 [A/G] rs6703455 1 5312989 [C/G] rs6703948 1 5313445 [A/C] rs72638071 1 5313568 [A/G] JHU_1.5314593 1 5314594 [T/C] rs12091281 1 5314737 [T/C] rs12034446 1 5316813 [G/C] JHU_1.5317485 1 5317486 [T/C] JHU_1.5318070 1 5318071 [C/G] JHU_1.5318181 1 5318182 [A/T] rs57225662 1 5319250 [A/G] rs630153 1 5321139 [A/G] JHU_1.5321290 1 5321291 [A/G] rs74052008 1 5322010 [A/G] rs499416 1 5324231 [T/C] JHU_1.5325461 1 5325462 [G/C] rs76598779 1 5326516 [A/G] rs479689 1 5327281 [T/C] rs118066927 1 5327582 [G/C] JHU_1.5329265 1 5329266 [A/G] rs579467 1 5329865 [T/C] JHU_1.5333515 1 5333516 [T/C] JHU_1.5333919 1 5333920 [T/C] rs584938 1 5334079 [A/C] rs4847576 1 5335599 [T/C] JHU_1.5337397 1 5337398 [G/C] JHU_1.5338286 1 5338287 [T/G] JHU_1.5338580 1 5338581 [G/C] JHU_1.5338596 1 5338597 [T/G] JHU_1.5339586 1 5339587 [T/G] rs17423547 1 5341464 [T/C] rs12141954 1 5342295 [A/G] rs35223542 1 5343656 [A/G] JHU_1.5343826 1 5343827 [T/C] rs78201745 1 5345881 [A/G] rs557477 1 5346474 [T/G] rs560335 1 5346800 [T/G] exm2252114 1 5347155 [T/C] rs116293001 1 5347371 [A/G] rs665471 1 5347457 [T/C] rs80200284 1 5347779 [T/C] rs4417082 1 5348270 [A/G] rs10915405 1 5348272 [A/G] JHU_1.5348478 1 5348479 [A/G] JHU_1.5349538 1 5349539 [T/C] rs10915406 1 5349616 [A/G] JHU_1.5350257 1 5350258 [T/G] rs2353174 1 5350428 [T/C] rs912988 1 5354844 [T/C] JHU_1.5356570 1 5356571 [T/C] rs10799191 1 5356607 [A/C] JHU_1.5357072 1 5357073 [A/G] JHU_1.5358715 1 5358716 [A/G] rs7518506 1 5358738 [A/G] rs35729641 1 5359291 [A/G] rs11579529 1 5359498 [A/G] rs146895270 1 5359707 [T/C] rs35310424 1 5361947 [A/C] rs12040942 1 5371159 [A/C] rs10915414 1 5373366 [C/G] rs5026665 1 5374940 [A/G] rs12074045 1 5378108 [A/T] rs4847569 1 5379624 [T/C] rs79729928 1 5380047 [A/C] rs139549030 1 5381097 [G/C] rs9439565 1 5381250 [T/C] rs4306140 1 5382279 [A/G] rs79339794 1 5388176 [T/C] JHU_1.5391271 1 5391272 [T/G] rs1326006 1 5398257 [A/G] rs2148211 1 5401364 [A/G] JHU_1.5402380 1 5402381 [A/C] rs10915416 1 5403031 [A/G] JHU_1.5404047 1 5404048 [T/G] rs74422838 1 5404853 [A/G] rs139722601 1 5405901 [T/C] rs12408534 1 5408123 [T/C] JHU_1.5409828 1 5409829 [T/G] rs4129058 1 5410542 [T/C] rs74767203 1 5411516 [T/C] rs113094946 1 5412105 [T/C] rs12752113 1 5413994 [T/C] rs140881141 1 5417852 [A/G] rs72640603 1 5426587 [T/C] rs34603599 1 5427566 [A/G] rs78082858 1 5428217 [T/C] JHU_1.5429320 1 5429321 [A/G] rs78994305 1 5432023 [A/G] JHU_1.5432338 1 5432339 [A/G] rs149965630 1 5438915 [T/C] rs142660452 1 5440301 [A/G] 1:5443533-G-T 1 5443533 [T/G] JHU_1.5447944 1 5447945 [A/G] rs140447909 1 5448859 [T/C] rs146121715 1 5449152 [A/C] JHU_1.5450496 1 5450497 [A/C] rs36183604 1 5451477 [T/A] JHU_1.5451934 1 5451935 [A/G] JHU_1.5451990 1 5451991 [A/G] rs146037005 1 5453962 [A/G] rs74219217 1 5454407 [T/C] rs145379697 1 5455497 [T/G] rs143936201 1 5456342 [A/G] JHU_1.5457063 1 5457064 [T/C] rs36194643 1 5458909 [A/G] rs11584808 1 5464273 [T/C] rs61763344 1 5465505 [A/G] rs12029480 1 5465673 [T/C] rs11586280 1 5466737 [T/C] rs138627650 1 5469321 [C/G] JHU_1.5472076 1 5472077 [T/G] JHU_1.5473565 1 5473566 [A/G] JHU_1.5473950 1 5473951 [T/G] rs12731988 1 5473951 [T/G] JHU_1.5473982 1 5473983 [A/G] JHU_1.5474319 1 5474320 [A/G] JHU_1.5474669 1 5474670 [T/G] rs113332998 1 5474903 [A/G] rs11576458 1 5475581 [T/C] rs6603835 1 5475663 [A/C] JHU_1.5481933 1 5481934 [T/C] rs3922826 1 5485177 [T/G] rs6603840 1 5486898 [A/C] rs55868794 1 5487450 [T/C] rs12755610 1 5489018 [A/G] rs35608111 1 5489136 [T/C] rs12735700 1 5489867 [T/G] rs10907211 1 5492043 [A/C] rs74052366 1 5492500 [A/G] rs114603005 1 5494178 [T/C] JHU_1.5495728 1 5495729 [A/G] JHU_1.5496011 1 5496012 [A/G] JHU_1.5502445 1 5502446 [A/G] JHU_1.5502721 1 5502722 [A/G] rs12562483 1 5505010 [T/C] rs12065301 1 5506194 [A/G] rs140333042 1 5507151 [A/G] JHU_1.5510601 1 5510602 [T/A] JHU_1.5511784 1 5511785 [T/C] JHU_1.5513099 1 5513100 [T/C] rs11260694 1 5514194 [T/C] JHU_1.5514239 1 5514240 [T/C] JHU_1.5516308 1 5516309 [A/G] rs75486517 1 5518313 [A/G] JHU_1.5518942 1 5518943 [A/G] rs7538250 1 5520871 [A/G] rs12568815 1 5521691 [T/C] rs72855701 1 5525787 [T/G] rs59862356 1 5528176 [A/G] JHU_1.5529254 1 5529255 [A/G] JHU_1.5531400 1 5531401 [T/C] JHU_1.5532618 1 5532619 [T/C] rs7414322 1 5533601 [T/C] rs6603842 1 5534163 [A/G] JHU_1.5534687 1 5534688 [T/C] rs7366606 1 5534948 [T/G] JHU_1.5535338 1 5535339 [A/G] rs12023817 1 5536722 [A/C] JHU_1.5537895 1 5537896 [A/G] JHU_1.5539294 1 5539295 [A/G] JHU_1.5540322 1 5540323 [A/C] JHU_1.5540802 1 5540803 [C/G] JHU_1.5541392 1 5541393 [T/G] rs12049337 1 5542017 [A/G] rs12045091 1 5547562 [T/C] rs139244761 1 5549452 [T/C] rs11260698 1 5549525 [T/C] rs11260699 1 5551439 [A/C] rs75772985 1 5551714 [G/C] rs9662668 1 5554049 [A/G] rs2071953 1 5555141 [A/G] rs2071959 1 5556067 [A/G] rs74358150 1 5558577 [A/G] JHU_1.5560303 1 5560304 [C/G] JHU_1.5560720 1 5560721 [T/C] JHU_1.5561228 1 5561229 [T/C] rs9661310 1 5561412 [A/G] rs4845816 1 5561478 [A/G] rs17028126 1 5561821 [T/C] rs9659669 1 5563399 [A/G] rs11260632 1 5566811 [A/G] JHU_1.5567663 1 5567664 [T/C] rs12564659 1 5571255 [A/G] rs9729649 1 5572304 [A/G] JHU_1.5574894 1 5574895 [A/G] rs12729096 1 5575910 [T/C] JHU_1.5577051 1 5577052 [T/C] rs9660967 1 5581798 [T/C] rs13376005 1 5582558 [T/C] JHU_1.5585214 1 5585215 [A/G] rs76719549 1 5587441 [A/G] rs114340171 1 5591482 [A/G] JHU_1.5596454 1 5596455 [T/C] JHU_1.5596742 1 5596743 [T/C] rs7515958 1 5603850 [A/G] rs61762074 1 5605728 [T/C] rs80317570 1 5613767 [A/G] rs6701294 1 5616464 [T/C] rs1935762 1 5616830 [A/G] JHU_1.5617509 1 5617510 [A/C] rs11260644 1 5618182 [T/C] 1:5618508-A-G 1 5618508 [A/G] rs79538958 1 5618973 [A/G] rs9439613 1 5623965 [T/C] JHU_1.5626174 1 5626175 [T/C] JHU_1.5631361 1 5631362 [T/A] JHU_1.5631512 1 5631513 [T/C] JHU_1.5631544 1 5631545 [A/T] JHU_1.5631819 1 5631820 [T/C] rs80257547 1 5632270 [T/C] JHU_1.5634720 1 5634721 [A/G] rs904525 1 5635724 [T/C] JHU_1.5636376 1 5636377 [A/G] rs1775405 1 5636830 [A/C] JHU_1.5636892 1 5636893 [A/C] rs1775407 1 5637582 [C/G] JHU_1.5639364 1 5639365 [A/C] JHU_1.5639416 1 5639417 [C/G] rs6603844 1 5641064 [A/G] rs74052657 1 5641594 [A/G] rs34374334 1 5641785 [T/C] JHU_1.5644167 1 5644168 [A/C] JHU_1.5644257 1 5644258 [A/G] JHU_1.5645680 1 5645681 [A/C] rs1775417 1 5645821 [A/G] rs10907200 1 5646002 [T/C] rs78022460 1 5648058 [T/C] rs2382638 1 5649940 [A/G] JHU_1.5654435 1 5654436 [T/C] rs35256171 1 5655883 [T/G] rs59556898 1 5657766 [A/G] rs1775415 1 5657801 [T/G] JHU_1.5657800 1 5657801 [T/G] rs74052663 1 5657910 [T/C] JHU_1.5657909 1 5657910 [T/C] JHU_1.5661451 1 5661452 [C/G] rs116710214 1 5662664 [T/C] JHU_1.5664264 1 5664265 [T/G] JHU_1.5665873 1 5665874 [T/C] JHU_1.5669877 1 5669878 [A/T] rs707582 1 5671786 [A/G] rs7543445 1 5673516 [A/C] rs770718 1 5674434 [T/C] rs884994 1 5675494 [A/T] JHU_1.5676007 1 5676008 [T/C] JHU_1.5677111 1 5677112 [A/C] JHU_1.5679367 1 5679368 [T/C] rs74052688 1 5679403 [T/C] rs9439603 1 5679441 [A/G] rs10157819 1 5680572 [A/G] rs75078635 1 5682096 [T/C] rs2173541 1 5684110 [T/C] rs945322 1 5684301 [A/C] JHU_1.5684451 1 5684452 [A/C] rs4845793 1 5686915 [A/G] JHU_1.5687090 1 5687091 [T/C] JHU_1.5689182 1 5689183 [T/G] JHU_1.5689609 1 5689610 [T/C] JHU_1.5689635 1 5689636 [C/G] JHU_1.5689920 1 5689921 [C/G] rs9439590 1 5691896 [A/G] rs75624280 1 5693597 [T/C] rs111720469 1 5695218 [A/C] JHU_1.5695342 1 5695343 [G/C] JHU_1.5696017 1 5696018 [T/C] rs6690868 1 5701323 [T/C] JHU_1.5701520 1 5701521 [A/G] rs17028491 1 5703552 [A/G] JHU_1.5703643 1 5703644 [T/C] rs12354139 1 5704499 [T/C] rs17028511 1 5704836 [A/G] rs12129885 1 5705919 [T/C] JHU_1.5705954 1 5705955 [T/G] rs971816 1 5707091 [A/C] rs4845812 1 5707816 [T/C] JHU_1.5708302 1 5708303 [A/C] rs709183 1 5709728 [T/C] rs12083049 1 5710831 [T/C] rs707589 1 5711647 [T/C] JHU_1.5712461 1 5712462 [C/G] rs113837007 1 5712795 [T/C] JHU_1.5712800 1 5712801 [A/G] rs707590 1 5712831 [A/G] JHU_1.5714946 1 5714947 [A/C] JHU_1.5715014 1 5715015 [A/G] JHU_1.5715079 1 5715080 [A/G] JHU_1.5715141 1 5715142 [A/G] JHU_1.5715357 1 5715358 [A/C] JHU_1.5715463 1 5715464 [G/C] JHU_1.5716603 1 5716604 [T/C] JHU_1.5716859 1 5716860 [T/C] JHU_1.5716999 1 5717000 [A/C] JHU_1.5717214 1 5717215 [A/G] exm2252278 1 5717388 [T/C] 1:5718886-A-G 1 5718886 [A/G] rs75281396 1 5720372 [A/G] rs76707753 1 5721038 [T/C] exm2260467 1 5721189 [A/G] JHU_1.5721258 1 5721259 [T/G] JHU_1.5721384 1 5721385 [A/G] rs770721 1 5722405 [A/G] JHU_1.5723427 1 5723428 [T/C] rs79468152 1 5724056 [T/C] JHU_1.5724488 1 5724489 [A/C] rs707580 1 5724940 [T/C] JHU_1.5725933 1 5725934 [A/C] JHU_1.5728313 1 5728314 [G/C] JHU_1.5728387 1 5728388 [T/C] JHU_1.5728938 1 5728939 [T/A] JHU_1.5729401 1 5729402 [A/G] JHU_1.5729968 1 5729969 [T/C] JHU_1.5730050 1 5730051 [A/G] JHU_1.5730540 1 5730541 [T/C] rs112410416 1 5731591 [A/G] JHU_1.5731590 1 5731591 [A/G] rs771071 1 5732473 [A/G] JHU_1.5732885 1 5732886 [A/G] JHU_1.5733296 1 5733297 [G/C] JHU_1.5734057 1 5734058 [A/G] JHU_1.5735487 1 5735488 [A/G] rs707593 1 5736682 [A/G] rs74054464 1 5737319 [T/C] rs10492948 1 5738500 [A/G] JHU_1.5740835 1 5740836 [T/C] rs149703439 1 5743299 [T/C] rs3913320 1 5743801 [G/C] JHU_1.5744918 1 5744919 [T/C] rs770702 1 5744921 [T/C] rs770705 1 5747184 [T/G] JHU_1.5748644 1 5748645 [G/C] JHU_1.5749225 1 5749226 [A/G] JHU_1.5750124 1 5750125 [T/C] JHU_1.5750372 1 5750373 [T/A] JHU_1.5750827 1 5750828 [T/C] rs770712 1 5751591 [A/G] rs113595041 1 5751760 [A/G] rs11579682 1 5752416 [A/G] JHU_1.5752868 1 5752869 [T/C] JHU_1.5753372 1 5753373 [T/C] rs2649074 1 5755428 [T/C] JHU_1.5758096 1 5758097 [A/C] rs57794534 1 5759681 [T/C] JHU_1.5760353 1 5760354 [T/C] JHU_1.5761967 1 5761968 [A/G] rs770693 1 5765353 [T/C] JHU_1.5766383 1 5766384 [T/C] rs2649078 1 5767805 [A/G] rs12126945 1 5768607 [T/C] rs873982 1 5770265 [A/C] JHU_1.5770701 1 5770702 [A/G] rs770695 1 5771817 [C/G] rs74793371 1 5772006 [A/G] rs770697 1 5772500 [A/G] rs72850497 1 5773357 [A/G] rs1414380 1 5774876 [A/G] rs115490700 1 5778003 [A/G] JHU_1.5778354 1 5778355 [T/C] rs1540712 1 5780546 [A/C] rs2244632 1 5780697 [A/G] JHU_1.5781996 1 5781997 [T/G] rs79895490 1 5782727 [A/G] rs2649084 1 5784433 [T/C] rs2649083 1 5784445 [A/G] JHU_1.5786289 1 5786290 [A/G] JHU_1.5786323 1 5786324 [A/G] JHU_1.5786864 1 5786865 [T/C] rs72643046 1 5788124 [T/C] JHU_1.5788581 1 5788582 [T/C] JHU_1.5790319 1 5790320 [G/C] JHU_1.5790339 1 5790340 [A/G] rs2842258 1 5790498 [A/G] rs2649056 1 5790730 [G/C] JHU_1.5793449 1 5793450 [G/C] JHU_1.5795580 1 5795581 [A/G] JHU_1.5795599 1 5795600 [A/G] JHU_1.5797095 1 5797096 [T/C] rs2649063 1 5799631 [A/G] rs74049455 1 5802314 [T/C] JHU_1.5802389 1 5802390 [A/G] rs12091449 1 5802978 [T/C] 1:5744088del100 1 5804149 [I/D] rs1472484 1 5805204 [T/C] rs11260682 1 5805605 [T/C] rs17028725 1 5811543 [A/G] rs12060804 1 5814154 [A/G] JHU_1.5814499 1 5814500 [T/C] rs12061770 1 5816307 [T/C] JHU_1.5817955 1 5817956 [A/T] rs111994430 1 5818740 [G/C] rs56785417 1 5819566 [A/G] rs139985233 1 5825134 [T/C] JHU_1.5825133 1 5825134 [T/C] JHU_1.5826296 1 5826297 [A/G] JHU_1.5828000 1 5828001 [A/C] JHU_1.5829006 1 5829007 [A/G] rs12076190 1 5829039 [T/C] rs4129514 1 5831601 [A/G] JHU_1.5834054 1 5834055 [T/C] JHU_1.5835783 1 5835784 [T/C] JHU_1.5840118 1 5840119 [T/G] JHU_1.5840180 1 5840181 [A/G] rs61763330 1 5840260 [C/G] JHU_1.5843045 1 5843046 [T/C] rs78576011 1 5844355 [A/G] rs7535974 1 5846374 [C/G] JHU_1.5846531 1 5846532 [G/C] rs368154966 1 5851819 [T/G] JHU_1.5852680 1 5852681 [T/C] JHU_1.5853617 1 5853618 [A/G] rs75883988 1 5858429 [T/C] rs146478025 1 5858441 [C/G] rs7416733 1 5859110 [A/G] rs4845818 1 5861105 [A/G] JHU_1.5861990 1 5861991 [T/C] JHU_1.5863325 1 5863326 [A/C] rs149875990 1 5863744 [A/G] rs74756318 1 5864725 [T/C] rs74049492 1 5864812 [T/C] rs28507073 1 5865275 [T/C] rs7545456 1 5865928 [T/C] JHU_1.5868712 1 5868713 [T/C] JHU_1.5869550 1 5869551 [A/G] JHU_1.5875339 1 5875340 [A/G] JHU_1.5875517 1 5875518 [A/G] rs1890190 1 5876249 [T/G] 1:5817029del97 1 5877090 [D/I] 1:5817271_5817272ins 1 5877331 [I/D] JHU_1.5877633 1 5877634 [A/G] rs9725925 1 5879772 [T/C] rs9308476 1 5880466 [A/C] rs72854771 1 5881994 [G/C] 1:5882238-T-C 1 5882238 [T/C] rs9661840 1 5882333 [T/C] rs77972586 1 5882485 [A/G] rs10864640 1 5882696 [A/G] rs142078009 1 5883002 [A/G] rs1890191 1 5887140 [T/C] rs72854790 1 5890230 [A/G] 1:5891494-A-G 1 5891494 [A/G] JHU_1.5892319 1 5892320 [T/G] rs12041519 1 5895194 [A/G] JHU_1.5897103 1 5897104 [A/G] rs74051352 1 5898954 [A/G] rs36010087 1 5899314 [T/C] rs12141893 1 5899473 [A/G] rs55770564 1 5900537 [A/G] rs1698976 1 5900795 [T/C] JHU_1.5901766 1 5901767 [A/G] rs17028806 1 5901895 [A/G] JHU_1.5901894 1 5901895 [A/G] JHU_1.5901971 1 5901972 [T/C] JHU_1.5901974 1 5901975 [T/C] rs11579662 1 5901975 [T/C] JHU_1.5902049 1 5902050 [C/G] rs114061363 1 5902668 [A/G] rs78673138 1 5902911 [A/G] rs74051373 1 5903474 [T/C] rs1765720 1 5904983 [T/C] rs1765719 1 5905929 [T/G] rs17430872 1 5906462 [A/G] rs11121402 1 5908794 [T/C] 1:5910883-G-T 1 5910883 [T/G] rs74051394 1 5911588 [A/C] JHU_1.5913258 1 5913259 [A/G] rs548726 1 5913621 [T/C] JHU_1.5913882 1 5913883 [T/C] rs75671791 1 5914405 [T/C] rs10157281 1 5915662 [A/G] rs12060464 1 5916124 [A/G] rs12146024 1 5916437 [A/C] rs11800791 1 5917285 [A/G] JHU_1.5919692 1 5919693 [A/G] JHU_1.5920490 1 5920491 [A/G] rs11121600 1 5921042 [A/C] rs76966930 1 5921247 [A/G] rs115910810 1 5923369 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D1413N,Missense_D900N,Missense_D901N 1:5923369-CT 1 5923369 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D1413N,Missense_D900N,Missense_D901N exm8155 1 5923427 [T/A] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_F1393L,Missense_F880L,Missense_F881L rs35641267 1 5923427 [T/A] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_F1393L,Missense_F880L,Missense_F881L rs139203183 1 5923476 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs374146357 1 5923976 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_L1372L,Synonymous_L859L,Synonymous_L860L 1:5923991-CT 1 5923991 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D1367N,Missense_D854N,Missense_D855N rs369162678 1 5924015 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1359W,Missense_R846W,Missense_R847W exm8162 1 5924017 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S1358F,Missense_S845F,Missense_S846F exm8163 1 5924056 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_G1345D,Missense_G832D,Missense_G833D exm1844615 1 5924071 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A1340V,Missense_A827V,Missense_A828V rs199583130 1 5924411 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P1328L,Missense_P815L,Missense_P816L rs191062831 1 5924417 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1326H,Missense_R813H,Missense_R814H exm8173 1 5924483 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_H1304R,Missense_H791R,Missense_H792R exm8175 1 5924495 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S1300N,Missense_S787N,Missense_S788N rs115526767 1 5924518 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_G1292G,Synonymous_G779G,Synonymous_G780G Variant47868 1 5924528 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_L1289P,Missense_L776P,Missense_L777P exm8180 1 5924543 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1284H,Missense_R771H,Missense_R772H rs61739637 1 5924543 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1284H,Missense_R771H,Missense_R772H Variant47870 1 5924544 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1284C,Missense_R771C,Missense_R772C rs375237454 1 5924557 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_F1279F,Synonymous_F766F,Synonymous_F767F 1:5924570-GT 1 5924570 [T/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P1275H,Missense_P762H,Missense_P763H rs56293443 1 5924881 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent Variant15859 1 5925202 [I/D] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON 1:5925220-CT 1 5925220 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1253Q,Missense_R740Q,Missense_R741Q rs1287634 1 5925371 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent Variant47873 1 5926432 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8197 1 5926503 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1192W,Missense_R679W,Missense_R680W rs139022622 1 5926503 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1192W,Missense_R679W,Missense_R680W Variant15860 1 5927142 [D/I] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON rs113445782 1 5927169 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P1160L,Missense_P647L,Missense_P648L exm8201 1 5927169 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P1160L,Missense_P647L,Missense_P648L 1:5927818-GA 1 5927818 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P1152S,Missense_P639S,Missense_P640S exm8202 1 5927827 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1149C,Missense_R636C,Missense_R637C 1:5927887-CT 1 5927887 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_V1129M,Missense_V616M,Missense_V617M Variant47875 1 5927908 [T/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T1122P,Missense_T609P,Missense_T610P rs139767853 1 5927943 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A1110V,Missense_A597V,Missense_A598V exm8208 1 5927943 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A1110V,Missense_A597V,Missense_A598V rs11804710 1 5931019 [C/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs79777207 1 5931165 [T/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8212 1 5933335 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A1098T,Missense_A585T,Missense_A586T exm2275415 1 5933360 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_D1089D,Synonymous_D576D,Synonymous_D577D exm8213 1 5933384 [C/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_G1081G,Synonymous_G568G,Synonymous_G569G rs41280800 1 5933384 [C/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_G1081G,Synonymous_G568G,Synonymous_G569G exm2252388 1 5933384 [C/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_G1081G,Synonymous_G568G,Synonymous_G569G rs112284157 1 5934380 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent 1:5934533-GA 1 5934533 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Nonsense_Q1077X,Nonsense_Q564X,Nonsense_Q565X 1:5934535-AG 1 5934535 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_V1076A,Missense_V563A,Missense_V564A exm8217 1 5934581 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_V1061I,Missense_V548I,Missense_V549I exm8218 1 5934587 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A1059T,Missense_A546T,Missense_A547T rs373369949 1 5934602 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R1054C,Missense_R541C,Missense_R542C chr1_5934617 1 5934617 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P1049S,Missense_P536S,Missense_P537S 1:5934644-TC 1 5934644 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_M1040V,Missense_M527V,Missense_M528V exm8224 1 5934652 [T/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_E1037A,Missense_E524A,Missense_E525A Variant47882 1 5934967 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T1004M,Missense_T491M,Missense_T492M Variant2096 1 5934967 [I/D] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON exm8236 1 5935013 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_E989K,Missense_E476K,Missense_E477K exm8243 1 5935039 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T980M,Missense_T467M,Missense_T468M 1:5935048-GA 1 5935048 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T977M,Missense_T464M,Missense_T465M exm8245 1 5935064 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S972G,Missense_S459G,Missense_S460G 1:5935076-CT 1 5935076 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A968T,Missense_A455T,Missense_A456T 1:5935096-CT 1 5935096 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R961H,Missense_R448H,Missense_R449H rs12084067 1 5935102 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R959Q,Missense_R446Q,Missense_R447Q exm8251 1 5935102 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R959Q,Missense_R446Q,Missense_R447Q rs35575973 1 5935158 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_A940A,Synonymous_A427A,Synonymous_A428A exm8262 1 5935162 [T/A] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5935161 1 5935162 [T/A] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5935221 1 5935222 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5935400 1 5935401 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5935669 1 5935670 [G/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8263 1 5937158 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_V938M,Missense_V425M,Missense_V426M 1:5937214-AG 1 5937214 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_M919T,Missense_M406T,Missense_M407T 1:5937247-GA 1 5937247 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S908L,Missense_S395L,Missense_S396L exm1844859 1 5937254 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R906C,Missense_R393C,Missense_R394C 1:5937256-CT 1 5937256 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S905N,Missense_S392N,Missense_S393N 1:5937283-CT 1 5937283 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R896Q,Missense_R383Q,Missense_R384Q exm8271 1 5937289 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_H894R,Missense_H381R,Missense_H382R exm8272 1 5937317 [T/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S885R,Missense_S372R,Missense_S373R JHU_1.5939836 1 5939837 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent 1:5940198-GT 1 5940198 [T/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_L863I,Missense_L350I,Missense_L351I 1:5940216-GA 1 5940216 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R857C,Missense_R344C,Missense_R345C exm8283 1 5940228 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D853Y,Missense_D340Y,Missense_D341Y exm8285 1 5940243 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R848W,Missense_R335W,Missense_R336W exm8286 1 5940254 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P844L,Missense_P331L,Missense_P332L exm8288 1 5940266 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S840N,Missense_S327N,Missense_S328N rs72630607 1 5942035 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5944476 1 5944477 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5944950 1 5944951 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs140174679 1 5945961 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs12735231 1 5946443 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8291 1 5947373 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R820W,Missense_R307W,Missense_R308W exm8294 1 5947387 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S815L,Missense_S302L,Missense_S303L rs201527181 1 5947504 [C/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P776R,Missense_P263R,Missense_P264R Variant47889 1 5947517 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R772C,Missense_R259C,Missense_R260C rs200821373 1 5947525 [A/T] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_H769L,Missense_H256L,Missense_H257L exm8310 1 5950939 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_V765I,Missense_V252I,Missense_V253I Variant47890 1 5950972 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_G754R,Missense_G241R,Missense_G242R exm8313 1 5950975 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D753N,Missense_D240N,Missense_D241N rs148424288 1 5950975 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D753N,Missense_D240N,Missense_D241N exm1844957 1 5950982 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_D750D,Synonymous_D237D,Synonymous_D238D exm8314 1 5951002 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_V744M,Missense_V231M,Missense_V232M exm8315 1 5951013 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R740H,Missense_R227H,Missense_R228H exm8318 1 5951029 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R735W,Missense_R222W,Missense_R223W rs191913664 1 5951029 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R735W,Missense_R222W,Missense_R223W JHU_1.5951747 1 5951748 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5952595 1 5952596 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5952725 1 5952726 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs118044217 1 5952940 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs12058375 1 5956909 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs12401883 1 5957601 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs61057120 1 5959636 [T/A] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs58640305 1 5960318 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs150572799 1 5960339 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5960502 1 5960503 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5960549 1 5960550 [C/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5960630 1 5960631 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5960675 1 5960676 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs2134551 1 5961870 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5963916 1 5963917 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8320 1 5964678 [T/A] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_A714A,Synonymous_A201A,Synonymous_A202A 1:5964691-CT 1 5964691 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_G710D,Missense_G197D,Missense_G198D exm8323 1 5964769 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_Q684R,Missense_Q171R,Missense_Q172R 1:5964788-CT 1 5964788 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A678T,Missense_A165T,Missense_A166T chr1_5964799 1 5964799 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R674L,Missense_R161L,Missense_R162L exm8333 1 5964854 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D656N,Missense_D143N,Missense_D144N rs191602135 1 5964854 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_D656N,Missense_D143N,Missense_D144N rs142994352 1 5965370 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_Q646R,Missense_Q133R,Missense_Q134R exm2252398 1 5965372 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_L645L,Synonymous_L132L,Synonymous_L133L exm8340 1 5965427 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T627M,Missense_T114M,Missense_T115M exm8342 1 5965440 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T623A,Missense_T110A,Missense_T111A exm8344 1 5965455 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_E618K,Missense_E105K,Missense_E106K exm8348 1 5965494 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_G605S,Missense_G92S,Missense_G93S rs200634524 1 5965746 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_E570G,Missense_E57G,Missense_E58G exm8352 1 5965750 [G/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_Q569E,Missense_Q56E,Missense_Q57E exm8357 1 5965824 [G/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A544G,Missense_A31G,Missense_A32G Variant37644 1 5965832 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_P541P,Synonymous_P28P,Synonymous_P29P rs145255635 1 5965833 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P541L,Missense_P28L,Missense_P29L exm8359 1 5965833 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P541L,Missense_P28L,Missense_P29L Variant37645 1 5967244 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_P514P,Silent,Silent 1:5967245-GA 1 5967245 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P514L,Silent,Silent Variant47897 1 5967254 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P511L,Silent,Silent exm8370 1 5969237 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P493L,Silent,Silent Variant47898 1 5969253 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Nonsense_R488X,Silent,Silent rs146078470 1 5969280 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent 1:5969500-A-C 1 5969500 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5971313 1 5971314 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5972640 1 5972641 [T/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5973029 1 5973030 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs72857438 1 5974113 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs114539885 1 5975050 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs75803519 1 5976043 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs145580710 1 5976724 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs55676949 1 5978279 [C/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs962662 1 5978510 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs7549324 1 5982044 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs7535806 1 5983114 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs149298553 1 5987139 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent chr1_5987723 1 5987723 [T/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P476H,Missense_P21T,Missense_P21T 1:5987819-CT 1 5987819 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R444Q,Silent,Silent rs17432975 1 5987978 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5990716 1 5990717 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5991422 1 5991423 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs151307220 1 5992831 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent indel.486 1 5993238 [I/D] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON exm1845084 1 5993313 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_E399G,Silent,Silent seq-rs146637048 1 5993340 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R390H,Silent,Silent 1:5993340-CT 1 5993340 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R390H,Silent,Silent 1:5993382-GA 1 5993382 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S376L,Silent,Silent exm8390 1 5993383 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_S376A,Silent,Silent rs521736 1 5995552 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.5999553 1 5999554 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.6005668 1 6005669 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs148579629 1 6006334 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm2252413 1 6007194 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_V363V,Silent,Silent 1:6007235-CT 1 6007235 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_G350S,Silent,Silent rs190940697 1 6007259 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R342C,Silent,Silent exm8393 1 6007259 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R342C,Silent,Silent JHU_1.6007440 1 6007441 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.6007473 1 6007474 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8396 1 6008178 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T315M,Silent,Silent 1:6008230-CT 1 6008230 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_V298M,Silent,Silent exm8409 1 6008269 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R285W,Silent,Silent JHU_1.6009398 1 6009399 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent 1:6011121-G-A 1 6011121 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.6012602 1 6012603 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent exm8411 1 6012770 [A/T] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_H267L,Silent,Silent 1:6012828-GT 1 6012828 [T/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_L248M,Silent,Silent 1:6012876-GA 1 6012876 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R232C,Silent,Silent 1:6012885-GA 1 6012885 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Nonsense_R229X,Silent,Silent exm8414 1 6012895 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Synonymous_G225G,Silent,Silent 1:6012898-TC 1 6012898 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs143951387 1 6015812 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.6017329 1 6017330 [G/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent 1:6021964-GA 1 6021964 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T188M,Silent,Silent rs200711763 1 6021964 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T188M,Silent,Silent exm8420 1 6027365 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_A171T,Silent,Silent Variant47905 1 6027386 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_H164Y,Silent,Silent exm8421 1 6027409 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_H156R,Silent,Silent variant.488 1 6029157 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Nonsense_Q148X,Silent,Silent 1:6029180-GA 1 6029180 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P140L,Silent,Silent rs4908458 1 6033973 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.6034000 1 6034001 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.6035726 1 6035727 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs11120934 1 6037603 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs113902159 1 6038319 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent 1:6038330-CA 1 6038330 [A/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_E93D,Silent,Silent exm8434 1 6038338 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_F91L,Silent,Silent exm8438 1 6038352 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_P86L,Silent,Silent exm8441 1 6038433 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_R59Q,Silent,Silent 1:6038442-CT 1 6038442 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_C56Y,Silent,Silent rs116143755 1 6038872 [A/T] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs72859167 1 6038954 [T/C] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent rs138361156 1 6044175 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent variant.490 1 6046217 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Nonsense_Q45X,Silent,Silent exm8446 1 6046264 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 EXON Silent,Missense_T29M,Silent,Silent JHU_1.6051712 1 6051713 [A/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.6051985 1 6051986 [C/G] NR_111987,NM_015102,NM_001291593,NM_001291594 NPHP4,NPHP4,NPHP4,NPHP4 Silent,Silent,Silent,Silent JHU_1.6053550 1 6053551 [A/G] NM_001199861 KCNAB2 Silent rs806111 1 6053630 [T/G] NM_001199861 KCNAB2 Silent JHU_1.6060237 1 6060238 [T/C] NM_001199861 KCNAB2 Silent JHU_1.6063755 1 6063756 [T/C] NM_001199861 KCNAB2 Silent JHU_1.6064996 1 6064997 [A/G] NM_001199861 KCNAB2 Silent 1:6005232del158 1 6065293 [I/D] NM_001199861 KCNAB2 rs138666917 1 6065891 [A/G] NM_001199861 KCNAB2 Silent JHU_1.6067147 1 6067148 [A/G] NM_001199861 KCNAB2 Silent JHU_1.6068907 1 6068908 [A/G] NM_001199861 KCNAB2 Silent rs546526 1 6070870 [T/C] NM_001199861 KCNAB2 Silent rs945613 1 6073537 [A/G] NM_001199861 KCNAB2 Silent rs1883765 1 6073597 [T/C] NM_001199861 KCNAB2 Silent rs905463 1 6073850 [A/G] NM_001199861 KCNAB2 Silent rs4908696 1 6074434 [A/G] NM_001199861 KCNAB2 Silent JHU_1.6076272 1 6076273 [G/C] NM_001199861 KCNAB2 Silent rs142685107 1 6076751 [A/G] NM_001199861 KCNAB2 Silent JHU_1.6076818 1 6076819 [A/G] NM_001199861 KCNAB2 Silent rs1295107 1 6079392 [A/G] NM_001199861 KCNAB2 Silent rs6688644 1 6079975 [A/G] NM_001199861 KCNAB2 Silent rs11121065 1 6088364 [A/G] NM_001199861,NM_003636,NM_172130 KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent rs1295103 1 6088671 [T/G] NM_001199861,NM_003636,NM_172130 KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent rs72630663 1 6091437 [A/G] NM_001199861,NM_003636,NM_172130 KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent JHU_1.6091494 1 6091495 [G/C] NM_001199861,NM_003636,NM_172130 KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent rs12076209 1 6094800 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Silent,Silent,Silent,Silent rs1295094 1 6095199 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent JHU_1.6095614 1 6095615 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent rs3761922 1 6099601 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent rs1295087 1 6100313 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent exm8453 1 6100645 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_T6M,Missense_T6M,Missense_T6M,Missense_T6M 1:6100646-GA 1 6100646 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Synonymous_T6T,Synonymous_T6T,Synonymous_T6T,Synonymous_T6T rs79311709 1 6103178 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent JHU_1.6103976 1 6103977 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent JHU_1.6104028 1 6104029 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent JHU_1.6104063 1 6104064 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent rs3789560 1 6104715 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent rs4908738 1 6105154 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent rs144439428 1 6106047 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Silent,Silent,Silent,Silent,Silent JHU_1.6109985 1 6109986 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6111042 1 6111043 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent 1:6111610-CT 1 6111610 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Silent,Silent,Silent,Silent,Missense_T5M,Silent exm8468 1 6111757 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Silent,Silent,Silent,Silent,Missense_R54H,Silent JHU_1.6113549 1 6113550 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs11587586 1 6113550 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs3789553 1 6117171 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs4908752 1 6125084 [T/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6125717 1 6125718 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6126916 1 6126917 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6127020 1 6127021 [C/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs1883771 1 6129864 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6129953 1 6129954 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6132116 1 6132117 [T/A] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6138222 1 6138223 [T/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6138555 1 6138556 [A/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6138622 1 6138623 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6138658 1 6138659 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6138846 1 6138847 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6138941 1 6138942 [G/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6139048 1 6139049 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs11121183 1 6139169 [T/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs61639802 1 6139782 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs11583500 1 6140540 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6144344 1 6144345 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6144964 1 6144965 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6145052 1 6145053 [C/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6145183 1 6145184 [A/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent exm8480 1 6145272 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_V97A,Missense_V97A,Missense_V83A,Missense_V97A,Missense_V130A,Missense_V30A rs2294936 1 6145365 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs36032813 1 6145380 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs7512313 1 6145465 [T/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs3747980 1 6145683 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs3747979 1 6145812 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs143386390 1 6146588 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent exm8487 1 6147540 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_V114I,Missense_V114I,Missense_V100I,Missense_V114I,Missense_V147I,Missense_V47I JHU_1.6151242 1 6151243 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent exm2264794 1 6153525 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent 1:6155395-GA 1 6155395 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_V201M,Missense_V201M,Missense_V187M,Missense_V201M,Missense_V249M,Missense_V134M exm8535 1 6157383 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_A327V,Missense_A327V,Missense_A313V,Missense_A327V,Missense_A375V,Missense_A260V 1:6157434-CT 1 6157434 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent,Silent,Silent rs3205229 1 6158562 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Synonymous_S344S,Synonymous_S344S,Synonymous_S330S,Synonymous_S344S,Synonymous_S392S,Synonymous_S277S exm8543 1 6158569 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Missense_I347V,Missense_I347V,Missense_I333V,Missense_I347V,Missense_I395V,Missense_I280V 1:6159939-GA 1 6159939 [A/G] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Silent,Silent,Silent,Silent,Silent,Silent 1:6160034-CT 1 6160034 [T/C] NM_001199861,NM_003636,NM_172130,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6161958 1 6161959 [A/G] NM_015557 CHD5 EXON Silent rs3810993 1 6162583 [A/G] NM_015557 CHD5 EXON Silent rs12567407 1 6162881 [A/G] NM_015557 CHD5 EXON Silent rs3810988 1 6164029 [T/C] NM_015557 CHD5 EXON Silent JHU_1.6165743 1 6165744 [A/G] NM_015557 CHD5 Silent 1:6166311-GA 1 6166311 [A/G] NM_015557 CHD5 EXON Silent JHU_1.6166336 1 6166337 [T/C] NM_015557 CHD5 EXON Silent 1:6166767-CT 1 6166767 [T/C] NM_015557 CHD5 EXON Missense_R1884H rs12094320 1 6167194 [T/C] NM_015557 CHD5 Silent JHU_1.6167688 1 6167689 [T/C] NM_015557 CHD5 Silent 1:6169989-GA 1 6169989 [A/G] NM_015557 CHD5 EXON Missense_T1815M rs78789357 1 6170425 [D/I] NM_015557 CHD5 rs12142108 1 6170988 [A/G] NM_015557 CHD5 Silent exm8579 1 6171835 [A/G] NM_015557 CHD5 EXON Missense_T1750M exm8582 1 6171893 [T/G] NM_015557 CHD5 EXON Missense_K1731Q exm8588 1 6172266 [A/C] NM_015557 CHD5 EXON Missense_G1692W 1:6172987-TC 1 6172987 [T/C] NM_015557 CHD5 EXON Missense_S1662G rs1883767 1 6175489 [A/G] NM_015557 CHD5 Silent rs72863733 1 6177792 [A/G] NM_015557 CHD5 Silent rs2785581 1 6177898 [A/G] NM_015557 CHD5 Silent 1:6179806-T-C 1 6179806 [T/C] NM_015557 CHD5 Silent exm8597 1 6181177 [T/G] NM_015557 CHD5 EXON Missense_Q1634K exm8598 1 6181215 [T/C] NM_015557 CHD5 EXON Missense_R1621Q exm8602 1 6181252 [T/C] NM_015557 CHD5 EXON Missense_E1609K 1:6181401-G-A 1 6181401 [A/G] NM_015557 CHD5 Silent exm8609 1 6181605 [A/C] NM_015557 CHD5 EXON Missense_M1576I 1:6181880-G-A 1 6181880 [A/G] NM_015557 CHD5 Silent 1:6182301-G-A 1 6182301 [A/G] NM_015557 CHD5 Silent rs2843495 1 6182321 [A/G] NM_015557 CHD5 Silent 1:6182444-G-A 1 6182444 [A/G] NM_015557 CHD5 Silent 1:6183430-G-A 1 6183430 [A/G] NM_015557 CHD5 Silent rs2843494 1 6183926 [T/C] NM_015557 CHD5 Silent 1:6184092-AG 1 6184092 [A/G] NM_015557 CHD5 EXON Missense_S1539P 1:6184933-G-A 1 6184933 [A/G] NM_015557 CHD5 Silent 1:6185218-CA 1 6185218 [A/C] NM_015557 CHD5 EXON Missense_A1446S 1:6185241-CT 1 6185241 [T/C] NM_015557 CHD5 EXON Missense_R1438H rs61749270 1 6185608 [A/G] NM_015557 CHD5 EXON Synonymous_L1412L exm8644 1 6185909 [T/C] NM_015557 CHD5 EXON Missense_D1363G 1:6188166-CA 1 6188166 [A/C] NM_015557 CHD5 EXON Missense_M1281I 1:6189104-CT 1 6189104 [T/C] NM_015557 CHD5 EXON Missense_G1138D 1:6189751-G-A 1 6189751 [A/G] NM_015557 CHD5 Silent rs9434662 1 6190215 [T/C] NM_015557 CHD5 Silent JHU_1.6190314 1 6190315 [T/C] NM_015557 CHD5 EXON Synonymous_A1112A rs2235790 1 6191632 [T/C] NM_015557 CHD5 Silent 1:6193323-T-C 1 6193323 [T/C] NM_015557 CHD5 Silent 1:6194115-G-A 1 6194115 [A/G] NM_015557 CHD5 Silent rs58363298 1 6195209 [A/G] NM_015557 CHD5 Silent rs72632523 1 6196394 [A/G] NM_015557 CHD5 Silent rs2250358 1 6196869 [A/G] NM_015557 CHD5 EXON Synonymous_I831I rs12059364 1 6197459 [A/G] NM_015557 CHD5 Silent rs2485024 1 6199677 [C/G] NM_015557 CHD5 Silent rs78406496 1 6199924 [A/G] NM_015557 CHD5 Silent 1:6202295-CT 1 6202295 [T/C] NM_015557 CHD5 EXON Missense_V777M rs41307755 1 6202423 [A/C] NM_015557 CHD5 Silent exm8725 1 6202556 [T/C] NM_015557 CHD5 EXON Missense_G718D exm8730 1 6202647 [T/C] NM_015557 CHD5 EXON Missense_K688E JHU_1.6202919 1 6202920 [A/G] NM_015557 CHD5 Silent 1:6203446-G-C 1 6203446 [C/G] NM_015557 CHD5 Silent exm8731 1 6203883 [A/G] NM_015557 CHD5 EXON Synonymous_D681D exm8740 1 6203953 [T/C] NM_015557 CHD5 EXON Missense_R658K exm8747 1 6204150 [T/G] NM_015557 CHD5 EXON Missense_T623N rs17436816 1 6204161 [A/G] NM_015557 CHD5 EXON Synonymous_Y619Y JHU_1.6204221 1 6204222 [C/G] NM_015557 CHD5 Silent JHU_1.6204299 1 6204300 [A/C] NM_015557 CHD5 Silent 1:6204932-C-T 1 6204932 [T/C] NM_015557 CHD5 Silent rs12067480 1 6205349 [T/C] NM_015557 CHD5 Silent JHU_1.6206163 1 6206164 [G/C] NM_015557 CHD5 Silent exm8755 1 6206323 [T/C] NM_015557 CHD5 EXON Missense_R584H 1:6206332-CT 1 6206332 [T/C] NM_015557 CHD5 EXON Missense_R581H exm8757 1 6206387 [G/C] NM_015557 CHD5 EXON Missense_G563R exm8760 1 6206422 [T/G] NM_015557 CHD5 EXON Missense_P551Q JHU_1.6206647 1 6206648 [A/C] NM_015557 CHD5 Silent rs34394746 1 6206750 [D/I] NM_015557 CHD5 EXON 1:6206828-CT 1 6206828 [T/C] NM_015557 CHD5 EXON Missense_S496N exm8768 1 6206877 [G/C] NM_015557 CHD5 EXON Missense_P480A exm8769 1 6206882 [A/G] NM_015557 CHD5 EXON Missense_T478M rs1883606 1 6207217 [T/C] NM_015557 CHD5 Silent JHU_1.6207252 1 6207253 [A/G] NM_015557 CHD5 Silent rs72852042 1 6207613 [A/G] NM_015557 CHD5 Silent rs72632537 1 6208206 [T/C] NM_015557 CHD5 Silent exm8774 1 6208966 [T/G] NM_015557 CHD5 EXON Missense_N444T 1:6209464-CCAT-C 1 6209464 [I/D] NM_015557 CHD5 EXON 1:6211008-G-A 1 6211008 [A/G] NM_015557 CHD5 Silent JHU_1.6211007 1 6211008 [A/G] NM_015557 CHD5 Silent 1:6213960-T-G 1 6213960 [T/G] NM_015557 CHD5 Silent JHU_1.6213959 1 6213960 [T/G] NM_015557 CHD5 Silent 1:6214467-C-T 1 6214467 [T/C] NM_015557 CHD5 Silent 1:6214773-GA 1 6214773 [A/G] NM_015557 CHD5 EXON Missense_P231L exm8811 1 6214876 [T/C] NM_015557 CHD5 EXON Missense_A197T 1:6214906-CT 1 6214906 [T/C] NM_015557 CHD5 EXON Missense_V187I exm1850770 1 6215695 [A/G] NM_015557 CHD5 EXON Missense_T157M exm8817 1 6215713 [A/G] NM_015557 CHD5 EXON Missense_S151L rs144492282 1 6216047 [A/G] NM_015557 CHD5 Silent 1:6216147-G-A 1 6216147 [A/G] NM_015557 CHD5 Silent rs61760800 1 6216780 [A/G] NM_015557 CHD5 Silent rs9434741 1 6217859 [A/G] NM_015557 CHD5 Silent 1:6219533-CA 1 6219533 [A/C] NM_015557 CHD5 EXON Nonsense_E84X 1:6219685-C-T 1 6219685 [T/C] NM_015557 CHD5 Silent JHU_1.6220648 1 6220649 [T/C] NM_015557 CHD5 Silent JHU_1.6220961 1 6220962 [A/G] NM_015557 CHD5 Silent JHU_1.6221018 1 6221019 [T/C] NM_015557 CHD5 Silent JHU_1.6221154 1 6221155 [A/T] NM_015557 CHD5 Silent JHU_1.6221264 1 6221265 [T/C] NM_015557 CHD5 Silent JHU_1.6221824 1 6221825 [T/C] NM_015557 CHD5 Silent 1:6221827-G-A 1 6221827 [A/G] NM_015557 CHD5 Silent rs747393 1 6221975 [T/C] NM_015557 CHD5 Silent rs731975 1 6222501 [A/C] NM_015557 CHD5 Silent 1:6223070-T-C 1 6223070 [T/C] NM_015557 CHD5 Silent JHU_1.6223177 1 6223178 [T/C] NM_015557 CHD5 Silent 1:6223932-C-T 1 6223932 [T/C] NM_015557 CHD5 Silent 1:6224258-C-T 1 6224258 [T/C] NM_015557 CHD5 Silent rs12039290 1 6225739 [A/C] NM_015557 CHD5 Silent rs114162822 1 6226940 [A/G] NM_015557 CHD5 Silent 1:6227988-C-T 1 6227988 [T/C] NM_015557 CHD5 Silent 1:6228325-CA 1 6228325 [A/C] NM_015557 CHD5 EXON Missense_G31V rs61062646 1 6228783 [A/G] NM_015557 CHD5 Silent JHU_1.6229092 1 6229093 [A/G] NM_015557 CHD5 Silent 1:6229093-A-G 1 6229093 [A/G] NM_015557 CHD5 Silent 1:6230852-G-A 1 6230852 [A/G] NM_015557 CHD5 Silent JHU_1.6230851 1 6230852 [A/G] NM_015557 CHD5 Silent 1:6231098-G-A 1 6231098 [A/G] NM_015557 CHD5 Silent JHU_1.6231934 1 6231935 [A/C] NM_015557 CHD5 Silent rs76723054 1 6232157 [T/C] NM_015557 CHD5 Silent rs11809884 1 6232569 [T/C] NM_015557 CHD5 Silent rs56304603 1 6232976 [C/G] NM_015557 CHD5 Silent rs115415928 1 6233974 [T/C] NM_015557 CHD5 Silent 1:6236899-G-T 1 6236899 [T/G] NM_015557 CHD5 Silent rs61198901 1 6237105 [A/C] NM_015557 CHD5 Silent 1:6237397-C-T 1 6237397 [T/C] NM_015557 CHD5 Silent 1:6237799-G-A 1 6237799 [A/G] NM_015557 CHD5 Silent rs57155860 1 6242176 [A/G] JHU_1.6243366 1 6243367 [A/G] 1:6243494-C-T 1 6243494 [T/C] rs12143847 1 6243732 [T/A] rs4908863 1 6247066 [T/C] NM_000983 RPL22 Silent JHU_1.6250189 1 6250190 [T/C] NM_000983 RPL22 Silent JHU_1.6253395 1 6253396 [A/T] NM_000983 RPL22 Silent JHU_1.6257565 1 6257566 [C/G] NM_000983 RPL22 Silent 1:6257809-AG 1 6257809 [A/G] NM_000983 RPL22 EXON Missense_L7P 1:6257826-T-C 1 6257826 [T/C] NM_000983 RPL22 Silent JHU_1.6257825 1 6257826 [T/C] NM_000983 RPL22 Silent rs2294712 1 6257863 [A/G] NM_000983 RPL22 Silent JHU_1.6258288 1 6258289 [T/A] NM_000983 RPL22 Silent rs76008792 1 6258920 [A/G] NM_000983 RPL22 Silent 1:6259078-C-T 1 6259078 [T/C] NM_000983 RPL22 Silent 1:6261081-T-A 1 6261081 [A/T] rs4908864 1 6263354 [T/C] JHU_1.6263471 1 6263472 [A/G] JHU_1.6265848 1 6265849 [A/G] 1:6267531-CT 1 6267531 [T/C] NM_207396 RNF207 EXON Missense_A95V 1:6267588-GA 1 6267588 [A/G] NM_207396 RNF207 Silent 1:6267614-GA 1 6267614 [A/G] NM_207396 RNF207 Silent 1:6267734-GA 1 6267734 [A/G] NM_207396 RNF207 Silent exm8903 1 6269069 [A/C] NM_207396 RNF207 EXON Missense_D151E Variant14 1 6269086 [I/D] NM_207396 RNF207 1:6269203-CA 1 6269203 [A/C] NM_207396 RNF207 EXON Missense_F166L 1:6269213-AT 1 6269213 [T/A] NM_207396 RNF207 EXON Nonsense_K170X 1:6269393-AG 1 6269393 [A/G] NM_207396 RNF207 EXON Missense_Q206R 1:6269662-C-T 1 6269662 [T/C] NM_207396 RNF207 Silent 1:6269919-G-A 1 6269919 [A/G] NM_207396 RNF207 Silent 1:6270306-CT 1 6270306 [T/C] NM_207396 RNF207 EXON Missense_A275V 1:6270469-AG 1 6270469 [A/G] NM_207396 RNF207 EXON Missense_N305D exm8937 1 6270963 [T/C] NM_207396 RNF207 EXON Missense_R326W exm8938 1 6270964 [A/G] NM_207396 RNF207 EXON Missense_R326Q 1:6270981-CT 1 6270981 [T/C] NM_207396 RNF207 EXON Missense_P332S 1:6270985-AT-A 1 6270985 [I/D] NM_207396 RNF207 EXON 1:6271097-GA 1 6271097 [A/G] NM_207396 RNF207 EXON Missense_R343Q exm8946 1 6271178 [T/C] NM_207396 RNF207 EXON Missense_T370M exm8949 1 6272028 [A/G] NM_207396 RNF207 EXON Missense_R404Q 1:6272047-GT 1 6272047 [T/G] NM_207396 RNF207 EXON Synonymous_V410V exm8952 1 6272065 [G/C] NM_207396 RNF207 EXON Missense_E416D 1:6272091-GA 1 6272091 [A/G] NM_207396 RNF207 EXON Missense_R425H 1:6272097-AG 1 6272097 [A/G] NM_207396 RNF207 EXON Missense_Y427C 1:6272112-GT 1 6272112 [T/G] NM_207396 RNF207 EXON Missense_R432L exm8962 1 6272342 [T/C] NM_207396 RNF207 EXON Nonsense_R450X exm8964 1 6272364 [T/C] NM_207396 RNF207 EXON Missense_S457L 1:6272429-GA 1 6272429 [A/G] NM_207396 RNF207 EXON Missense_A479T Variant37646 1 6272763 [T/C] NM_207396 RNF207 EXON Nonsense_R502X chr1_6272763 1 6272763 [T/C] NM_207396 RNF207 EXON Nonsense_R502X exm1853088 1 6272793 [A/G] NM_207396 RNF207 EXON Missense_A512T exm8982 1 6273207 [A/G] NM_207396 RNF207 EXON Missense_R539H rs116106089 1 6275034 [A/G] NM_207396 RNF207 Silent rs12071731 1 6276167 [T/G] NM_207396 RNF207 Silent rs68032129 1 6276561 [T/C] NM_207396 RNF207 Silent JHU_1.6277264 1 6277265 [A/G] NM_207396 RNF207 Silent exm8990 1 6278414 [A/G] NM_207396 RNF207 EXON Missense_N573S exm8992 1 6278425 [A/G] NM_207396 RNF207 EXON Missense_A577T 1:6279346-AG 1 6279346 [A/G] NM_207396 RNF207 EXON Missense_K595R exm8997 1 6279370 [C/G] NM_207396 RNF207 EXON Missense_G603A rs846111 1 6279370 [C/G] NM_207396 RNF207 EXON Missense_G603A exm8999 1 6279383 [C/G] NM_207396 RNF207 EXON Missense_E607D indel.514 1 6279448 [D/I] NM_207396 RNF207 EXON 1:6280915-T-C 1 6280915 [T/C] NM_207396 RNF207 EXON Silent 1:6285152-CA 1 6285152 [A/C] NM_012405 ICMT EXON Missense_K281N 1:6285179-T-C 1 6285179 [T/C] NM_012405 ICMT EXON Synonymous_T272T 1:6285298-CT 1 6285298 [T/C] NM_012405 ICMT EXON Missense_G233S JHU_1.6286800 1 6286801 [T/A] NM_012405 ICMT Silent JHU_1.6291746 1 6291747 [A/T] NM_012405 ICMT Silent 1:6291747-A-T 1 6291747 [A/T] NM_012405 ICMT Silent 1:6292027-CA 1 6292027 [A/C] NM_012405 ICMT EXON Nonsense_G203X JHU_1.6292069 1 6292070 [T/C] NM_012405 ICMT EXON Synonymous_V188V exm9016 1 6293647 [T/C] NM_012405 ICMT EXON Missense_N114S 1:6294573-TC 1 6294573 [T/C] NM_012405 ICMT Silent variant.516 1 6294941 [T/C] NM_012405 ICMT Silent exm9019 1 6295019 [T/A] NM_012405 ICMT EXON Missense_C71S JHU_1.6295624 1 6295625 [A/G] NM_012405 ICMT Silent 1:6295827-CA 1 6295827 [A/C] NM_012405 ICMT EXON Missense_A49S JHU_1.6296237 1 6296238 [T/G] 1:6297246-C-G 1 6297246 [G/C] NR_103534 LINC00337 Silent JHU_1.6298979 1 6298980 [T/C] NR_103534 LINC00337 EXON Silent JHU_1.6299486 1 6299487 [T/C] NR_103534 LINC00337 EXON Silent rs56064414 1 6300395 [T/C] 1:6300504-G-C 1 6300504 [G/C] JHU_1.6300503 1 6300504 [G/C] rs114948575 1 6301067 [A/G] JHU_1.6302303 1 6302304 [T/C] 1:6304444-GA 1 6304444 [A/G] NM_001024598 HES3 EXON Missense_A7T exm9031 1 6304454 [A/G] NM_001024598 HES3 EXON Missense_N10S exm9036 1 6304618 [A/G] NM_001024598 HES3 EXON Missense_R31H 1:6305466-GA 1 6305466 [A/G] NM_001024598 HES3 EXON Missense_V154I exm9051 1 6305557 [A/G] NM_001024598 HES3 EXON Missense_D184G 1:6306395-G-C 1 6306395 [G/C] rs12240078 1 6306912 [T/C] 1:6307630-G-A 1 6307630 [A/G] NM_207370 GPR153 EXON Silent JHU_1.6308470 1 6308471 [G/C] NM_207370 GPR153 EXON Silent JHU_1.6308694 1 6308695 [A/G] NM_207370 GPR153 EXON Silent 1:6310535-GA 1 6310535 [A/G] NM_207370 GPR153 EXON Missense_R377W exm9066 1 6310562 [G/C] NM_207370 GPR153 EXON Missense_G368R exm9070 1 6310624 [T/C] NM_207370 GPR153 EXON Missense_G347D exm9071 1 6310639 [T/C] NM_207370 GPR153 EXON Missense_R342H 1:6311445-CT 1 6311445 [T/C] NM_207370 GPR153 EXON Missense_R311Q 1:6311464-CT 1 6311464 [T/C] NM_207370 GPR153 EXON Missense_A305T 1:6312136-T-C 1 6312136 [T/C] NM_207370 GPR153 Silent rs11808644 1 6312986 [A/G] NM_207370 GPR153 Silent 1:6313858-CT 1 6313858 [T/C] NM_207370 GPR153 EXON Missense_A236T exm9104 1 6313887 [T/C] NM_207370 GPR153 EXON Missense_R226Q exm9115 1 6313963 [T/C] NM_207370 GPR153 EXON Missense_V201M JHU_1.6314392 1 6314393 [T/C] NM_207370 GPR153 Silent 1:6314679-GA 1 6314679 [A/G] NM_207370 GPR153 EXON Missense_A96V exm9137 1 6314743 [T/C] NM_207370 GPR153 EXON Missense_D75N exm9138 1 6314748 [T/C] NM_207370 GPR153 EXON Missense_R73H seq-rs776061422 1 6314749 [A/G] NM_207370 GPR153 EXON Missense_R73C 1:6314823-GA 1 6314823 [A/G] NM_207370 GPR153 EXON Missense_T48I rs74049515 1 6315125 [A/G] NM_207370 GPR153 Silent 1:6316894-G-A 1 6316894 [A/G] NM_207370 GPR153 Silent rs4908543 1 6317983 [T/C] NM_207370 GPR153 Silent JHU_1.6318026 1 6318027 [T/C] NM_207370 GPR153 Silent 1:6322419-T-C 1 6322419 [T/C] JHU_1.6322518 1 6322519 [C/G] rs55980313 1 6323110 [T/C] 1:6324665-GT 1 6324665 [T/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_Q349K,Missense_Q379K,Missense_Q328K,Missense_Q369K exm1857120 1 6324673 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_A346V,Missense_A376V,Missense_A325V,Missense_A366V JHU_1.6324746 1 6324747 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Synonymous_T321T,Synonymous_T351T,Synonymous_T300T,Synonymous_T341T rs74049518 1 6325270 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6325305 1 6325306 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs75157532 1 6325389 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6327233 1 6327234 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6328129-G-T 1 6328129 [T/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6328482 1 6328483 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6328576 1 6328577 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6328740-C-T 1 6328740 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6328739 1 6328740 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6329506 1 6329507 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6330015-T-C 1 6330015 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6330098 1 6330099 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6330764 1 6330765 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs4908544 1 6333627 [G/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6334004-G-A 1 6334004 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6334541-C-T 1 6334541 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6334683 1 6334684 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6335457-C-T 1 6335457 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6336711-C-T 1 6336711 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs75074971 1 6336916 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs141709330 1 6339093 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6346542-G-A 1 6346542 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6347149-C-T 1 6347149 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6347306-C-T 1 6347306 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6347798 1 6347799 [T/A] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs72854322 1 6350033 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6350051 1 6350052 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs58640499 1 6350585 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs3789500 1 6352084 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6354665-T-A 1 6354665 [T/A] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6355065 1 6355066 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs7519033 1 6358895 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6360733 1 6360734 [A/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs17029372 1 6361437 [T/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6361593 1 6361594 [A/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6361964 1 6361965 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs11121611 1 6367219 [T/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6368879 1 6368880 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6368880 1 6368881 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs116742765 1 6370626 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6373970 1 6373971 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent exm9186 1 6378607 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Synonymous_S199S,Synonymous_S229S,Synonymous_S178S,Synonymous_S219S exm2252586 1 6378607 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Synonymous_S199S,Synonymous_S229S,Synonymous_S178S,Synonymous_S219S JHU_1.6379151 1 6379152 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs72633423 1 6384809 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6386092-C-A 1 6386092 [A/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs6577570 1 6387276 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs34853430 1 6388317 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6388923 1 6388924 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6393093 1 6393094 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs77561556 1 6393121 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6393573-CA 1 6393573 [A/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_K138N,Missense_K168N,Missense_K117N,Missense_K158N rs75431891 1 6398270 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent 1:6399627-GA 1 6399627 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_A75V,Missense_A105V,Missense_A54V,Missense_A95V JHU_1.6402027 1 6402028 [T/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6403490 1 6403491 [A/T] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs75524748 1 6404365 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs72858359 1 6404995 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs143915672 1 6405000 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs60643598 1 6405560 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6407102 1 6407103 [C/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs742505 1 6408060 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent exm2233698 1 6409810 [A/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_G67V,Missense_G97V,Missense_G46V,Missense_G87V 1:6409832-GA 1 6409832 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_R60W,Missense_R90W,Missense_R39W,Missense_R80W rs3827718 1 6411024 [A/G] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6411219 1 6411220 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6411945 1 6411946 [G/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent JHU_1.6415418 1 6415419 [T/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs7515832 1 6418218 [A/C] NM_181865,NM_181864,NM_181866,NM_007274 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs76067292 1 6421337 [A/G] NM_181864,NM_007274 ACOT7,ACOT7 Silent,Silent rs6683017 1 6428977 [T/C] NM_181864,NM_007274 ACOT7,ACOT7 Silent,Silent JHU_1.6429997 1 6429998 [G/C] NM_181864,NM_007274 ACOT7,ACOT7 Silent,Silent JHU_1.6438292 1 6438293 [T/C] NM_181864,NM_007274 ACOT7,ACOT7 Silent,Silent 1:6445606-CT 1 6445606 [T/C] NM_181864,NM_007274 ACOT7,ACOT7 EXON Missense_V41M,Silent rs150213121 1 6452944 [A/G] NM_007274 ACOT7 Silent rs4582826 1 6461530 [T/C] rs17026985 1 6465054 [A/G] 1:6473294-AG 1 6473294 [A/G] rs11485227 1 6474008 [T/C] rs142774957 1 6474535 [T/C] JHU_1.6475603 1 6475604 [A/G] NM_019089 HES2 EXON Silent exm9255 1 6479372 [A/G] NM_019089 HES2 EXON Missense_A57V exm9256 1 6479393 [T/C] NM_019089 HES2 EXON Missense_N50S 1:6479904-CA 1 6479904 [A/C] NM_019089 HES2 EXON Silent JHU_1.6480530 1 6480531 [T/G] JHU_1.6481606 1 6481607 [A/C] rs77028675 1 6486190 [A/G] NM_031475 ESPN Silent rs113845673 1 6487654 [T/G] NM_031475 ESPN Silent rs143577178 1 6488328 [T/C] NM_031475 ESPN EXON Missense_R113C exm9279 1 6488328 [T/C] NM_031475 ESPN EXON Missense_R113C rs139826091 1 6489783 [A/G] NM_031475 ESPN Silent rs2103673 1 6494399 [T/C] NM_031475 ESPN Silent JHU_1.6496261 1 6496262 [A/G] NM_031475 ESPN Silent rs77829738 1 6498162 [T/G] NM_031475 ESPN Silent 1:6500753-CT 1 6500753 [T/C] NM_031475 ESPN EXON Missense_A248V 1:6501109-GA 1 6501109 [A/G] NM_031475 ESPN EXON Missense_R325H exm9324 1 6504575 [T/C] NM_031475 ESPN EXON Missense_S342F rs115143295 1 6504598 [T/C] NM_031475 ESPN EXON Missense_P350S exm9327 1 6504598 [T/C] NM_031475 ESPN EXON Missense_P350S rs116413227 1 6504619 [T/C] NM_031475 ESPN EXON Missense_P357S exm9330 1 6504619 [T/C] NM_031475 ESPN EXON Missense_P357S rs142638391 1 6504654 [T/G] NM_031475 ESPN EXON Missense_F368L 1:6504654-TG 1 6504654 [T/G] NM_031475 ESPN EXON Missense_F368L 1:6504732-CA 1 6504732 [A/C] NM_031475 ESPN EXON Missense_H394Q exm9339 1 6504736 [T/C] NM_031475 ESPN EXON Missense_P396S exm9346 1 6505796 [A/G] NM_031475 ESPN EXON Missense_R422Q 1:6508725-GA 1 6508725 [A/G] NM_031475 ESPN EXON Missense_G497R JHU_1.6509593 1 6509594 [C/G] NM_031475 ESPN Silent JHU_1.6510577 1 6510578 [T/G] NM_031475 ESPN Silent 1:6511720-AC 1 6511720 [A/C] NM_031475 ESPN EXON Missense_E658A 1:6511896-GA 1 6511896 [A/G] NM_031475 ESPN EXON Missense_D689N Variant47912 1 6511986 [A/C] NM_031475 ESPN EXON Missense_S719R rs121908134 1 6511986 [A/C] NM_031475 ESPN EXON Missense_S719R 1:6512056-CT 1 6512056 [T/C] NM_031475 ESPN EXON Missense_T742M rs121908135 1 6512061 [A/G] NM_031475 ESPN EXON Missense_D744N 1:6512107-TG 1 6512107 [T/G] NM_031475 ESPN EXON Missense_V759G 1:6512109-CT 1 6512109 [T/C] NM_031475 ESPN EXON Missense_R760C 1:6512110-GA 1 6512110 [A/G] NM_031475 ESPN EXON Missense_R760H rs74049583 1 6516170 [T/C] NM_031475 ESPN Silent 1:6517431-CT 1 6517431 [T/C] NM_031475 ESPN EXON Missense_R806W rs3138159 1 6520024 [A/C] NM_031475 ESPN Silent exm9406 1 6520127 [T/C] NM_031475 ESPN EXON Missense_T829M 1:6520154-CA 1 6520154 [A/C] NM_031475 ESPN EXON Missense_A838E rs45481403 1 6521278 [A/G] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Silent,Silent,Silent,Silent 1:6521498-GT 1 6521498 [T/G] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_P234Q,Missense_P372Q,Missense_P426Q,Missense_P380Q,Missense_P417Q 1:6521520-GT 1 6521520 [T/G] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_R227S,Missense_R365S,Missense_R419S,Missense_R373S,Missense_R410S exm9437 1 6522218 [C/G] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_P71R,Missense_P209R,Missense_P263R,Missense_P217R,Missense_P254R exm9445 1 6522724 [T/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Missense_D192N,Missense_D246N,Silent,Missense_D237N exm9447 1 6522961 [A/G] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Missense_T178I,Missense_T232I,Silent,Missense_T223I exm9459 1 6524501 [T/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Missense_D114G,Missense_D159G,Missense_D159G,Missense_D159G,Missense_D159G JHU_1.6524687 1 6524688 [T/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Synonymous_Q84Q,Synonymous_Q129Q,Synonymous_Q129Q,Synonymous_Q129Q,Synonymous_Q129Q 1:6525171-CT 1 6525171 [T/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Silent,Missense_R91H,Missense_R91H,Missense_R91H,Missense_R91H exm9480 1 6525267 [G/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Silent,Missense_A59G,Missense_A59G,Missense_A59G,Missense_A59G exm9484 1 6525565 [T/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_R32K,Missense_R32K,Missense_R32K,Missense_R32K,Missense_R32K,Missense_R32K exm9487 1 6525592 [T/C] NM_148970,NM_148967,NM_148965,NM_148966,NM_003790,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_R23Q,Missense_R23Q,Missense_R23Q,Missense_R23Q,Missense_R23Q,Missense_R23Q 1:6528009-CA 1 6528009 [A/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G963W,Missense_G963W,Silent,Missense_G1040W,Missense_G963W,Missense_G1032W,Missense_G1019W,Missense_G1042W 1:6528282-GA 1 6528282 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_H872Y,Missense_H872Y,Missense_H872Y,Missense_H949Y,Missense_H872Y,Missense_H941Y,Missense_H928Y,Missense_H951Y rs3007419 1 6528302 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_Q865R,Missense_Q865R,Missense_Q865R,Missense_Q942R,Missense_Q865R,Missense_Q934R,Missense_Q921R,Missense_Q944R exm9518 1 6528302 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_Q865R,Missense_Q865R,Missense_Q865R,Missense_Q942R,Missense_Q865R,Missense_Q934R,Missense_Q921R,Missense_Q944R rs193245630 1 6528327 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R857C,Missense_R857C,Missense_R857C,Missense_R934C,Missense_R857C,Missense_R926C,Missense_R913C,Missense_R936C exm9523 1 6528371 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R842Q,Missense_R842Q,Missense_R842Q,Missense_R919Q,Missense_R842Q,Missense_R911Q,Missense_R898Q,Missense_R921Q rs200162521 1 6528411 [A/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_D829Y,Missense_D829Y,Missense_D829Y,Missense_D906Y,Missense_D829Y,Missense_D898Y,Missense_D885Y,Missense_D908Y 1:6528411-CA 1 6528411 [A/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_D829Y,Missense_D829Y,Missense_D829Y,Missense_D906Y,Missense_D829Y,Missense_D898Y,Missense_D885Y,Missense_D908Y rs184541137 1 6528439 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Synonymous_Y819Y,Synonymous_Y819Y,Synonymous_Y819Y,Synonymous_Y896Y,Synonymous_Y819Y,Synonymous_Y888Y,Synonymous_Y875Y,Synonymous_Y898Y 1:6529136-GA 1 6529136 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R739W,Missense_R739W,Missense_R739W,Missense_R816W,Missense_R739W,Missense_R808W,Missense_R795W,Missense_R818W chr1_6529150 1 6529150 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_S734F,Missense_S734F,Missense_S734F,Missense_S811F,Missense_S734F,Missense_S803F,Missense_S790F,Missense_S813F 1:6529171-CA 1 6529171 [A/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_S727I,Missense_S727I,Missense_S727I,Missense_S804I,Missense_S727I,Missense_S796I,Missense_S783I,Missense_S806I exm1860664 1 6529187 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_E722K,Missense_E722K,Missense_E722K,Missense_E799K,Missense_E722K,Missense_E791K,Missense_E778K,Missense_E801K Variant16 1 6529188 [D/I] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON exm9556 1 6529605 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Synonymous_P644P,Synonymous_P644P,Synonymous_P644P,Synonymous_P721P,Synonymous_P644P,Synonymous_P713P,Synonymous_P700P,Synonymous_P723P rs150807400 1 6529605 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Synonymous_P644P,Synonymous_P644P,Synonymous_P644P,Synonymous_P721P,Synonymous_P644P,Synonymous_P713P,Synonymous_P700P,Synonymous_P723P 1:6529612-CT 1 6529612 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R642Q,Missense_R642Q,Missense_R642Q,Missense_R719Q,Missense_R642Q,Missense_R711Q,Missense_R698Q,Missense_R721Q exm9570 1 6530372 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P575L,Missense_P575L,Missense_P575L,Missense_P652L,Missense_P575L,Missense_P644L,Missense_P631L,Missense_P654L chr1_6530666 1 6530666 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A527V,Missense_A527V,Missense_A527V,Missense_A604V,Missense_A527V,Missense_A596V,Missense_A583V,Missense_A606V 1:6530818-CA 1 6530818 [A/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A507S,Missense_A507S,Missense_A507S,Missense_A584S,Missense_A507S,Missense_A576S,Missense_A563S,Missense_A586S 1:6530830-CA 1 6530830 [A/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Nonsense_E503X,Nonsense_E503X,Nonsense_E503X,Nonsense_E580X,Nonsense_E503X,Nonsense_E572X,Nonsense_E559X,Nonsense_E582X 1:6530877-CA 1 6530877 [A/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R487L,Missense_R487L,Missense_R487L,Missense_R564L,Missense_R487L,Missense_R556L,Missense_R543L,Missense_R566L exm2273609 1 6530940 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A466V,Missense_A466V,Missense_A466V,Missense_A543V,Missense_A466V,Missense_A535V,Missense_A522V,Missense_A545V exm9585 1 6531124 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_M440V,Missense_M440V,Missense_M440V,Missense_M517V,Missense_M440V,Missense_M509V,Missense_M496V,Missense_M519V rs61740145 1 6531124 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_M440V,Missense_M440V,Missense_M440V,Missense_M517V,Missense_M440V,Missense_M509V,Missense_M496V,Missense_M519V 1:6531573-CT 1 6531573 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G419E,Missense_G419E,Missense_G419E,Missense_G496E,Missense_G419E,Missense_G488E,Missense_G475E,Missense_G498E 1:6531621-GA 1 6531621 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A403V,Missense_A403V,Missense_A403V,Missense_A480V,Missense_A403V,Missense_A472V,Missense_A459V,Missense_A482V 1:6531685-GT 1 6531685 [T/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R382S,Missense_R382S,Missense_R382S,Missense_R459S,Missense_R382S,Missense_R451S,Missense_R438S,Missense_R461S exm9606 1 6532648 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A340V,Missense_A340V,Missense_A340V,Missense_A417V,Missense_A340V,Missense_A409V,Missense_A396V,Missense_A419V rs72861528 1 6532648 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A340V,Missense_A340V,Missense_A340V,Missense_A417V,Missense_A340V,Missense_A409V,Missense_A396V,Missense_A419V rs140202670 1 6532673 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R332W,Missense_R332W,Missense_R332W,Missense_R409W,Missense_R332W,Missense_R401W,Missense_R388W,Missense_R411W exm9608 1 6532673 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R332W,Missense_R332W,Missense_R332W,Missense_R409W,Missense_R332W,Missense_R401W,Missense_R388W,Missense_R411W 1:6533099-TG 1 6533099 [T/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_N311H,Missense_N311H,Missense_N311H,Missense_N388H,Missense_N311H,Missense_N380H,Missense_N367H,Missense_N390H exm9611 1 6533102 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_D310N,Missense_D310N,Missense_D310N,Missense_D387N,Missense_D310N,Missense_D379N,Missense_D366N,Missense_D389N exm9620 1 6533207 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G275S,Missense_G275S,Missense_G275S,Missense_G352S,Missense_G275S,Missense_G344S,Missense_G331S,Missense_G354S 1:6533372-CA 1 6533372 [A/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R245L,Missense_R245L,Missense_R245L,Missense_R322L,Missense_R245L,Missense_R314L,Missense_R301L,Missense_R324L JHU_1.6534001 1 6534002 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:6534093-GA 1 6534093 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R191W,Missense_R191W,Missense_R191W,Missense_R268W,Missense_R191W,Missense_R260W,Missense_R247W,Missense_R270W 1:6534123-CT 1 6534123 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A181T,Missense_A181T,Missense_A181T,Missense_A258T,Missense_A181T,Missense_A250T,Missense_A237T,Missense_A260T ilmnseq_rs143484278 1 6534132 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G178R,Missense_G178R,Missense_G178R,Missense_G255R,Missense_G178R,Missense_G247R,Missense_G234R,Missense_G257R exm9630 1 6534132 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G178R,Missense_G178R,Missense_G178R,Missense_G255R,Missense_G178R,Missense_G247R,Missense_G234R,Missense_G257R exm9632 1 6534155 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P170L,Missense_P170L,Missense_P170L,Missense_P247L,Missense_P170L,Missense_P239L,Missense_P226L,Missense_P249L rs59117380 1 6534155 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P170L,Missense_P170L,Missense_P170L,Missense_P247L,Missense_P170L,Missense_P239L,Missense_P226L,Missense_P249L exm9634 1 6534182 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_M161T,Missense_M161T,Missense_M161T,Missense_M238T,Missense_M161T,Missense_M230T,Missense_M217T,Missense_M240T exm9636 1 6534226 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs201656051 1 6534234 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs778853521 1 6534499 [G/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1860833 1 6534600 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_K117R,Missense_K117R,Missense_K117R,Missense_K194R,Missense_K117R,Missense_K186R,Missense_K173R,Missense_K196R exm9643 1 6534643 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_V103M,Missense_V103M,Missense_V103M,Missense_V180M,Missense_V103M,Missense_V172M,Missense_V159M,Missense_V182M rs141032388 1 6534643 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_V103M,Missense_V103M,Missense_V103M,Missense_V180M,Missense_V103M,Missense_V172M,Missense_V159M,Missense_V182M 1:6535121-CA 1 6535121 [A/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_K96N,Missense_K96N,Missense_K96N,Missense_K173N,Missense_K96N,Missense_K165N,Missense_K152N,Missense_K175N exm9646 1 6535149 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_I87T,Missense_I87T,Missense_I87T,Missense_I164T,Missense_I87T,Missense_I156T,Missense_I143T,Missense_I166T rs200779650 1 6535183 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_C76R,Missense_C76R,Missense_C76R,Missense_C153R,Missense_C76R,Missense_C145R,Missense_C132R,Missense_C155R 1:6535532-CT 1 6535532 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R67K,Missense_R67K,Missense_R67K,Missense_R144K,Missense_R67K,Missense_R136K,Missense_R123K,Missense_R146K rs111400494 1 6536052 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R30C,Missense_R30C,Missense_R30C,Missense_R107C,Missense_R30C,Missense_R99C,Missense_R86C,Missense_R109C exm9654 1 6536057 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P28L,Missense_P28L,Missense_P28L,Missense_P105L,Missense_P28L,Missense_P97L,Missense_P84L,Missense_P107L rs112530241 1 6536076 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_V22M,Missense_V22M,Missense_V22M,Missense_V99M,Missense_V22M,Missense_V91M,Missense_V78M,Missense_V101M exm9655 1 6536076 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_V22M,Missense_V22M,Missense_V22M,Missense_V99M,Missense_V22M,Missense_V91M,Missense_V78M,Missense_V101M 1:6537598-GT 1 6537598 [T/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P12T,Missense_P12T,Missense_P12T,Missense_P89T,Missense_P12T,Missense_P81T,Missense_P68T,Missense_P91T rs144859183 1 6537599 [A/G] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Synonymous_L11L,Synonymous_L11L,Synonymous_L11L,Synonymous_L88L,Synonymous_L11L,Synonymous_L80L,Synonymous_L67L,Synonymous_L90L chr1_6537652 1 6537652 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Silent,Silent,Silent,Missense_D71N,Silent,Missense_D63N,Missense_D50N,Missense_D73N rs11121914 1 6538629 [T/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001265593,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6545917 1 6545918 [G/C] NM_001042665,NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72861536 1 6546389 [T/C] NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent rs2986739 1 6548056 [A/G] NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6549699 1 6549700 [G/C] NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent exm2268861 1 6550376 [T/C] NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent exm2233725 1 6550505 [T/C] NM_020631,NM_001265594,NM_198681,NM_001042664,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Silent,Silent,Silent,Silent,Silent,Silent rs75725904 1 6552529 [A/G] NM_198681,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent rs74049592 1 6556001 [T/C] NM_198681,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent chr1_6556582 1 6556582 [T/C] NM_198681,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A39T,Missense_A18T,Missense_A41T rs201669114 1 6556585 [A/G] NM_198681,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P38S,Missense_P17S,Missense_P40S exm9669 1 6556585 [A/G] NM_198681,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P38S,Missense_P17S,Missense_P40S JHU_1.6560328 1 6560329 [A/G] NM_198681 PLEKHG5 Silent JHU_1.6560492 1 6560493 [T/C] NM_198681 PLEKHG5 Silent JHU_1.6560845 1 6560846 [T/C] NM_198681 PLEKHG5 Silent JHU_1.6561038 1 6561039 [T/C] NM_198681 PLEKHG5 Silent JHU_1.6561299 1 6561300 [A/G] NM_198681 PLEKHG5 Silent JHU_1.6562637 1 6562638 [T/C] NM_198681 PLEKHG5 Silent JHU_1.6562783 1 6562784 [A/G] NM_198681 PLEKHG5 Silent JHU_1.6563066 1 6563067 [A/G] NM_198681 PLEKHG5 Silent rs6663548 1 6564141 [T/G] NM_198681 PLEKHG5 Silent rs737243 1 6564156 [T/C] NM_198681 PLEKHG5 Silent JHU_1.6565442 1 6565443 [A/G] NM_198681 PLEKHG5 Silent JHU_1.6567431 1 6567432 [T/A] NM_198681 PLEKHG5 Silent rs4908554 1 6568387 [T/C] NM_198681 PLEKHG5 Silent rs3935435 1 6572175 [A/G] NM_198681 PLEKHG5 Silent rs184276263 1 6572189 [A/G] NM_198681 PLEKHG5 Silent rs79523378 1 6573877 [A/G] NM_198681 PLEKHG5 Silent rs4243829 1 6577765 [T/C] NM_198681 PLEKHG5 Silent rs4243830 1 6577871 [T/C] NM_198681 PLEKHG5 Silent rs1010584 1 6579843 [T/C] NM_198681 PLEKHG5 EXON Silent JHU_1.6583234 1 6583235 [A/G] NM_024654 NOL9 EXON Silent JHU_1.6584800 1 6584801 [T/A] NM_024654 NOL9 EXON Silent rs12142404 1 6585908 [T/C] NM_024654 NOL9 EXON Silent exm9686 1 6585940 [A/G] NM_024654 NOL9 EXON Missense_P695S 1:6586923-TG 1 6586923 [T/G] NM_024654 NOL9 Silent JHU_1.6588735 1 6588736 [A/G] NM_024654 NOL9 Silent exm9702 1 6589087 [T/C] NM_024654 NOL9 EXON Missense_A598T JHU_1.6591619 1 6591620 [G/C] NM_024654 NOL9 Silent newrs146978611 1 6592659 [A/G] NM_024654 NOL9 EXON Nonsense_R467X exm9726 1 6592718 [A/G] NM_024654 NOL9 EXON Missense_P447L exm2233730 1 6592800 [T/C] NM_024654 NOL9 EXON Missense_I420V rs118102691 1 6596035 [A/G] NM_024654 NOL9 Silent rs4908909 1 6599041 [T/C] NM_024654 NOL9 Silent 1:6601890-CA 1 6601890 [A/C] NM_024654 NOL9 EXON Nonsense_G359X 1:6605116-TC 1 6605116 [T/C] NM_024654 NOL9 EXON Missense_N290S exm1863117 1 6605226 [A/C] NM_024654 NOL9 EXON Missense_Q253H JHU_1.6608197 1 6608198 [T/C] NM_024654 NOL9 Silent exm9750 1 6609659 [A/G] NM_024654 NOL9 EXON Missense_P239L 1:6609722-TC 1 6609722 [T/C] NM_024654 NOL9 EXON Missense_Q218R exm9755 1 6610478 [G/C] NM_024654 NOL9 EXON Missense_L198F 1:6610485-CT 1 6610485 [T/C] NM_024654 NOL9 EXON Missense_R196Q exm9758 1 6610486 [A/G] NM_024654 NOL9 EXON Missense_R196W exm9772 1 6614303 [A/G] NM_024654 NOL9 EXON Missense_P87L 1:6614558-GA 1 6614558 [A/G] NM_024654 NOL9 EXON Missense_A2V exm9788 1 6615444 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_C4Y,Missense_C4Y rs149094445 1 6615467 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Nonsense_Q12X,Nonsense_Q12X exm9789 1 6615467 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Nonsense_Q12X,Nonsense_Q12X exm9790 1 6615469 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_Q12H,Missense_Q12H 1:6615487-CA 1 6615487 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Nonsense_C18X,Nonsense_C18X 1:6615533-CA 1 6615533 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_L34I,Missense_L34I 1:6615555-CT 1 6615555 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A41V,Missense_A41V JHU_1.6618098 1 6618099 [T/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent JHU_1.6618422 1 6618423 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent rs12565181 1 6620545 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent rs11805406 1 6621229 [T/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent JHU_1.6621416 1 6621417 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent rs146052257 1 6629075 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent JHU_1.6629074 1 6629075 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent JHU_1.6629273 1 6629274 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent rs12082471 1 6630622 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent 1:6631015-CT 1 6631015 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R80W,Missense_R80W rs199550568 1 6631015 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R80W,Missense_R80W 1:6631027-TGAG-T 1 6631027 [D/I] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON exm9800 1 6631106 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A110V,Missense_A110V exm9805 1 6631153 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_H126N,Missense_H126N exm9806 1 6631157 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_I127T,Missense_I127T 1:6631193-CT 1 6631193 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_T139M,Missense_T139M rs200157217 1 6631201 [T/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A142S,Missense_A142S exm-rs11587438 1 6631431 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent 1:6634432-G-C 1 6634432 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent exm9821 1 6634731 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_R180Q JHU_1.6634732 1 6634733 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_Q181E exm9822 1 6634733 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_Q181E exm9823 1 6634764 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_N191S rs61746706 1 6634901 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_I237L exm9831 1 6634901 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_I237L exm9833 1 6634973 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_R261C 1:6635165-GA 1 6635165 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_A325T exm9848 1 6635231 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_K347E exm9849 1 6635235 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_A348V exm9851 1 6635294 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_Q368E exm9852 1 6635306 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_A372T exm9853 1 6635309 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_H373N indel.549 1 6635346 [D/I] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON 1:6635388-GT 1 6635388 [T/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_G399V exm9863 1 6635448 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Nonsense_W419X rs140193828 1 6635448 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Nonsense_W419X exm9872 1 6636610 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_L212V,Missense_L466V exm9874 1 6636622 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_T216A,Missense_T470A 1:6636652-GA 1 6636652 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_E226K,Missense_E480K rs114597256 1 6636662 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_I229T,Missense_I483T exm9875 1 6636662 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_I229T,Missense_I483T exm9880 1 6636684 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_N236K,Missense_N490K chr1_6637016 1 6637016 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_K240Q,Missense_K494Q exm1863306 1 6637055 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R253G,Missense_R507G exm9881 1 6637056 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R253Q,Missense_R507Q rs74049687 1 6637951 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent JHU_1.6638164 1 6638165 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent exm9889 1 6638779 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_P300L,Missense_P554L seq-rs201116489 1 6638781 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R301C,Missense_R555C 1:6638805-CT 1 6638805 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R309C,Missense_R563C 1:6638881-TC 1 6638881 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_F334S,Missense_F588S rs150869784 1 6638881 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_F334S,Missense_F588S ilmnseq_rs367917934.2_F2BT 1 6638893 [T/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_L338R,Missense_L592R 1:6638893-TG 1 6638893 [T/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_L338R,Missense_L592R rs148892133 1 6638905 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_V342A,Missense_V596A 1:6638905-TC 1 6638905 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_V342A,Missense_V596A exm9899 1 6638925 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R349C,Missense_R603C exm9900 1 6638926 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R349H,Missense_R603H rs58864779 1 6638941 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_M354T,Missense_M608T exm9901 1 6638949 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_S357P,Missense_S611P rs150612979 1 6638995 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_P372L,Missense_P626L exm9904 1 6638995 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_P372L,Missense_P626L exm9907 1 6639073 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R398H,Missense_R652H 1:6639138-GA 1 6639138 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_V420I,Missense_V674I exm9912 1 6639150 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_G424S,Missense_G678S chr1_6639163 1 6639164 [D/I] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON exm9917 1 6639184 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A435V,Missense_A689V rs200959281 1 6639343 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A488V,Missense_A742V exm1863319 1 6639343 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A488V,Missense_A742V 1:6639392-GA 1 6639392 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Synonymous_E504E,Synonymous_E758E rs139812264 1 6639397 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_K506R,Missense_K760R exm9928 1 6639411 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_S511G,Missense_S765G exm9930 1 6639436 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Nonsense_W519X,Nonsense_W773X rs115030111 1 6639436 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Nonsense_W519X,Nonsense_W773X exm9933 1 6639525 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_G549S,Missense_G803S exm9934 1 6639538 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_Y553C,Missense_Y807C JHU_1.6639942 1 6639943 [A/G] JHU_1.6640660 1 6640661 [T/C] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Silent,Silent,Silent exm9952 1 6641060 [C/G] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_G131R,Missense_G131R,Missense_G131R exm9962 1 6641300 [A/G] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_K211E,Missense_K211E,Missense_K211E exm9965 1 6641348 [A/G] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_G227S,Missense_G227S,Missense_G227S 1:6642245-CT 1 6642245 [T/C] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_A273V,Missense_A273V,Missense_A273V variant.558 1 6647283 [T/C] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Nonsense_Q386X,Nonsense_Q386X,Nonsense_Q386X 1:6647317-TC 1 6647317 [T/C] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_M397T,Missense_M397T,Missense_M397T Variant37654 1 6647627 [T/C] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Synonymous_C438C,Synonymous_C438C,Synonymous_C438C 1:6647654-CA 1 6647654 [A/C] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_S447R,Missense_S447R,Missense_S447R 1:6648464-GA 1 6648464 [A/G] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_R548Q,Missense_R548Q,Missense_R548Q exm10030 1 6649228 [T/G] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Missense_S675A,Missense_S675A,Missense_S675A rs77070670 1 6649302 [A/C] NM_005341,NM_001278647,NM_001278648 ZBTB48,ZBTB48,ZBTB48 EXON Silent,Silent,Silent rs75256375 1 6649603 [A/G] rs185426059 1 6653056 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Silent 1:6653450-GA 1 6653450 [A/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Missense_P590L 1:6653453-GA 1 6653453 [A/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Missense_P589L 1:6653481-CT 1 6653481 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Missense_D580N exm2233733 1 6653499 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Missense_E574K exm10054 1 6653606 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Missense_R538H rs78053331 1 6653656 [A/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Synonymous_D521D exm2233734 1 6653687 [G/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Missense_G511A rs186226481 1 6653941 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Silent,Silent exm10068 1 6655595 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_V484M,Missense_V484M rs7521134 1 6657240 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 Silent,Silent exm10076 1 6659186 [T/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_L450M,Missense_L450M chr1_6659266 1 6659266 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_R423Q,Missense_R423Q exm2233736 1 6659316 [A/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_Q406H,Missense_Q406H exm10083 1 6659326 [T/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_E403A,Missense_E403A 1:6659338-GA 1 6659338 [A/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_T399I,Missense_T399I exm10084 1 6659353 [T/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_R394H,Missense_R394H 1:6659397-GCA-G 1 6659397 [I/D] NM_001324309,NM_014851 KLHL21,KLHL21 EXON rs112332096 1 6660695 [A/C] NM_001324309,NM_014851 KLHL21,KLHL21 Silent,Silent JHU_1.6661521 1 6661522 [A/G] NM_001324309,NM_014851 KLHL21,KLHL21 Silent,Silent 1:6661952-GT 1 6661952 [T/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_P309Q,Missense_P309Q 1:6661995-CA 1 6661995 [A/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_D295Y,Missense_D295Y 1:6662330-CA 1 6662330 [A/C] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_R183L,Missense_R183L 1:6662331-GT 1 6662331 [T/G] NM_001324309,NM_014851 KLHL21,KLHL21 EXON Missense_R183S,Missense_R183S JHU_1.6665436 1 6665437 [A/G] JHU_1.6668142 1 6668143 [A/G] JHU_1.6675488 1 6675489 [A/G] NM_153812 PHF13 Silent rs3817873 1 6676541 [T/C] NM_153812 PHF13 Silent 1:6676839-GA 1 6676839 [A/G] NM_153812 PHF13 EXON Missense_R21K rs143622628 1 6679373 [T/C] NM_153812 PHF13 Silent exm10158 1 6680100 [A/G] NM_153812 PHF13 EXON Missense_S127G 1:6680107-CT 1 6680107 [T/C] NM_153812 PHF13 EXON Missense_A129V 1:6681519-CT 1 6681519 [T/C] NM_153812 PHF13 EXON Missense_A242V 1:6681645-TC 1 6681645 [T/C] NM_153812 PHF13 EXON Missense_I284T rs114408970 1 6684304 [T/C] rs140573950 1 6687148 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 Silent,Silent,Silent exm10186 1 6688578 [G/C] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_E32Q,Missense_E32Q,Missense_E32Q exm10188 1 6688639 [T/C] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_T52M,Missense_T52M,Missense_T52M exm10190 1 6688680 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_A66T,Missense_A66T,Missense_A66T exm10192 1 6688740 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_D86N,Missense_D86N,Missense_D86N JHU_1.6690029 1 6690030 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 Silent,Silent,Silent 1:6690363-AG 1 6690363 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_T95A,Missense_T94A,Missense_T95A 1:6690411-AG 1 6690411 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_K111E,Missense_K110E,Missense_K111E variant.571 1 6690413 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Synonymous_K111K,Synonymous_K110K,Synonymous_K111K 1:6692590-CT 1 6692590 [T/C] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 Silent,Silent,Silent Variant37655 1 6692630 [T/C] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 Silent,Silent,Silent 1:6692996-TC-T 1 6692996 [D/I] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON 1:6693096-CT 1 6693096 [T/C] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Nonsense_Q227X,Nonsense_Q226X,Silent 1:6693097-AG 1 6693097 [A/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_Q227R,Missense_Q226R,Silent 1:6693133-GT 1 6693133 [T/G] NM_001195753,NM_001195752,NM_138350 THAP3,THAP3,THAP3 EXON Missense_S239I,Missense_S238I,Silent exm10224 1 6694099 [A/C] NM_138350 THAP3 EXON Missense_E160A exm10227 1 6694119 [T/C] NM_138350 THAP3 EXON Missense_R167C Variant12307 1 6694128 [I/D] NM_138350 THAP3 EXON rs12727844 1 6694207 [A/G] NM_138350 THAP3 EXON Silent 1:6694723-CT 1 6694723 [T/C] NM_138350,NM_018198 THAP3,DNAJC11 EXON Silent,Silent 1:6694774-GA 1 6694774 [A/G] NM_138350,NM_018198 THAP3,DNAJC11 EXON Silent,Silent 1:6694810-GA 1 6694810 [A/G] NM_138350,NM_018198 THAP3,DNAJC11 EXON Silent,Silent 1:6694819-GA 1 6694819 [A/G] NM_138350,NM_018198 THAP3,DNAJC11 EXON Silent,Silent 1:6694845-CT 1 6694845 [T/C] NM_138350,NM_018198 THAP3,DNAJC11 EXON Silent,Silent rs1043681 1 6695123 [T/C] NM_138350,NM_018198 THAP3,DNAJC11 EXON Silent,Silent exm10253 1 6695754 [T/C] NM_018198 DNAJC11 EXON Missense_R554K rs371340464 1 6695958 [T/C] NM_018198 DNAJC11 Silent rs732210 1 6696845 [A/G] NM_018198 DNAJC11 Silent exm10276 1 6697530 [A/G] NM_018198 DNAJC11 EXON Missense_I453T exm10282 1 6698390 [T/C] NM_018198 DNAJC11 EXON Missense_D430N 1:6700001-CT 1 6700001 [T/C] NM_018198 DNAJC11 EXON Missense_R405H exm10286 1 6700035 [T/C] NM_018198 DNAJC11 EXON Missense_V394M 1:6700119-TG 1 6700119 [T/G] NM_018198 DNAJC11 Silent rs112207754 1 6701103 [A/G] NM_018198 DNAJC11 Silent rs200458 1 6704635 [A/G] NM_018198 DNAJC11 EXON Synonymous_G360G rs200456 1 6705528 [A/G] NM_018198 DNAJC11 Silent exm10303 1 6705875 [T/G] NM_018198 DNAJC11 EXON Missense_T290P exm10307 1 6705944 [T/C] NM_018198 DNAJC11 EXON Missense_V267M exm10309 1 6705986 [T/C] NM_018198 DNAJC11 EXON Missense_G253S exm10310 1 6706030 [A/G] NM_018198 DNAJC11 EXON Missense_T238I rs185165369 1 6710352 [A/G] NM_018198 DNAJC11 Silent variant.579 1 6711072 [T/C] NM_018198 DNAJC11 Silent 1:6711146-TC 1 6711146 [T/C] NM_018198 DNAJC11 Silent JHU_1.6711348 1 6711349 [A/G] NM_018198 DNAJC11 Silent 1:6711637-TC 1 6711637 [T/C] NM_018198 DNAJC11 EXON Missense_Q219R rs2235564 1 6713114 [T/C] NM_018198 DNAJC11 Silent rs12738951 1 6715516 [T/C] NM_018198 DNAJC11 Silent JHU_1.6717241 1 6717242 [T/C] NM_018198 DNAJC11 Silent JHU_1.6718710 1 6718711 [T/G] NM_018198 DNAJC11 Silent JHU_1.6721587 1 6721588 [T/C] NM_018198 DNAJC11 Silent rs6659873 1 6723806 [T/G] NM_018198 DNAJC11 Silent rs11122115 1 6725427 [T/C] NM_018198 DNAJC11 Silent rs56150786 1 6726269 [T/C] NM_018198 DNAJC11 Silent 1KG_1_6727802 1 6727802 [D/I] NM_018198 DNAJC11 EXON JHU_1.6730015 1 6730016 [T/A] NM_018198 DNAJC11 Silent rs201151 1 6732424 [A/G] NM_018198 DNAJC11 Silent rs34202439 1 6736843 [T/C] NM_018198 DNAJC11 Silent 1:6738462-CA 1 6738462 [A/C] NM_018198 DNAJC11 EXON Nonsense_G90X 1:6740976-GA 1 6740976 [A/G] NM_018198 DNAJC11 EXON Missense_A65V exm10343 1 6741027 [T/A] NM_018198 DNAJC11 EXON Missense_D48V rs60503692 1 6743011 [A/C] NM_018198 DNAJC11 Silent rs116373628 1 6743907 [A/G] NM_018198 DNAJC11 Silent rs79362030 1 6749566 [G/C] NM_018198 DNAJC11 Silent JHU_1.6757604 1 6757605 [A/C] NM_018198 DNAJC11 Silent 1:6761797-GA 1 6761797 [A/G] NM_018198 DNAJC11 EXON Missense_R22C exm10345 1 6761808 [A/G] NM_018198 DNAJC11 EXON Missense_L18S rs74966204 1 6762816 [T/C] JHU_1.6776841 1 6776842 [A/G] JHU_1.6778392 1 6778393 [T/G] JHU_1.6779811 1 6779812 [A/G] JHU_1.6783095 1 6783096 [A/G] rs277679 1 6783548 [T/C] rs140210620 1 6784272 [T/C] JHU_1.6785945 1 6785946 [T/G] NR_104620 LINC01672 Silent JHU_1.6787562 1 6787563 [G/C] NR_104620 LINC01672 Silent rs11122122 1 6790946 [A/G] rs148413168 1 6794750 [T/C] rs447558 1 6795230 [T/C] rs2134318 1 6798102 [T/C] rs17029815 1 6798979 [A/G] JHU_1.6799235 1 6799236 [A/G] JHU_1.6802181 1 6802182 [A/T] JHU_1.6802334 1 6802335 [A/G] rs149809049 1 6803382 [G/C] rs12724107 1 6803492 [T/G] JHU_1.6804294 1 6804295 [T/G] rs79011332 1 6808227 [A/G] JHU_1.6808513 1 6808514 [T/C] JHU_1.6809211 1 6809212 [T/G] rs146606917 1 6813344 [C/G] 1:6813614-T-C 1 6813614 [T/C] rs277665 1 6814758 [T/C] exm2252762 1 6814758 [T/C] rs181830558 1 6821288 [A/G] rs35916265 1 6822410 [T/A] rs378930 1 6826467 [A/G] JHU_1.6830894 1 6830895 [C/G] rs391674 1 6832052 [A/G] JHU_1.6833552 1 6833553 [T/G] rs11122144 1 6835761 [A/G] 1:6838832-C-G 1 6838832 [C/G] rs175823 1 6846552 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs114340017 1 6847769 [C/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12753357 1 6848443 [A/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs141223958 1 6851202 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6852981 1 6852982 [T/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6853354 1 6853355 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17029864 1 6863342 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79955905 1 6866079 [A/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs589178 1 6870942 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs139363173 1 6872195 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs114497993 1 6872633 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6873206 1 6873207 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs659459 1 6873932 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77510453 1 6876562 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6879373 1 6879374 [A/T] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs150527837 1 6879817 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm10350 1 6880304 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Silent,Missense_I37V,Silent,Silent,Missense_I37V,Missense_I37V,Silent,Missense_I37V,Silent,Missense_I37V,Silent,Silent 1:6885221-CA 1 6885221 [A/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Silent,Missense_P62Q,Missense_P32Q,Silent,Missense_P62Q,Missense_P62Q,Silent,Missense_P62Q,Missense_P32Q,Missense_P62Q,Missense_P74Q,Silent JHU_1.6891986 1 6891987 [A/T] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs148001630 1 6893885 [G/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6894619 1 6894620 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7521838 1 6896334 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6896333 1 6896334 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74224530 1 6903299 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12058103 1 6903599 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76105610 1 6913212 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6921577 1 6921578 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17441830 1 6921578 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6926731 1 6926732 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6688732 1 6929760 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608,NM_001195563,NM_001349627,NR_146204 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6934000 1 6934001 [A/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76581429 1 6934933 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6935059 1 6935060 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs55647515 1 6937529 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77773844 1 6939331 [A/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6939674 1 6939675 [T/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs142302262 1 6941001 [A/G] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6944394 1 6944395 [A/C] NR_038934,NM_001242701,NM_001349612,NR_146203,NM_001349609,NM_001349610,NR_146202,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.6954157 1 6954158 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.6956001 1 6956002 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.6966580 1 6966581 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.6968030 1 6968031 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.6968341 1 6968342 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17495634 1 6972308 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11586867 1 6972393 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent 1:6973437-T-G 1 6973437 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908427 1 6976226 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.6976395 1 6976396 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.6976457 1 6976458 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12122806 1 6978623 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864247 1 6982350 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs146639433 1 6984506 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.6985734 1 6985735 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908574 1 6986109 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6577395 1 6991925 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12043429 1 6995218 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent 1:6937607_6937608ins 1 6997667 [I/D] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 JHU_1.6999737 1 6999738 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7001077 1 7001078 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7001191 1 7001192 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72638552 1 7002175 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7003564 1 7003565 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6659444 1 7003565 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs117301009 1 7006915 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6688108 1 7007311 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7007324 1 7007325 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs114073983 1 7009501 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs75821729 1 7009910 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs149990121 1 7011608 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7011749 1 7011750 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864251 1 7011805 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120796 1 7014330 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs115618889 1 7015831 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7539029 1 7016109 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10158762 1 7017152 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120797 1 7018719 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs74813748 1 7019580 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12410166 1 7019613 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030082 1 7029262 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs74690337 1 7031341 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs77977945 1 7031417 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs149134128 1 7034636 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs74224531 1 7037881 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7039484 1 7039485 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6698901 1 7041175 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs114029879 1 7042836 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7044241 1 7044242 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs61780912 1 7045363 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72638589 1 7045604 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1317017 1 7048779 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6681529 1 7052566 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs78892388 1 7053487 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7057337 1 7057338 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7057719 1 7057720 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030129 1 7059150 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120813 1 7062993 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2898914 1 7063696 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7067079 1 7067080 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7069753 1 7069754 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs75110660 1 7072329 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7072944 1 7072945 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7073271 1 7073272 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs114158852 1 7074138 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7074225 1 7074226 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs35533782 1 7076959 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6690584 1 7078434 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs78342053 1 7081066 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030152 1 7083719 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs61780948 1 7084794 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120820 1 7087739 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11588846 1 7088261 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm2264795 1 7088855 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2412212 1 7092320 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7093654 1 7093655 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7553111 1 7096272 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7553537 1 7096700 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7097984 1 7097985 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12728534 1 7098807 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7103111 1 7103112 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4074964 1 7105079 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12025462 1 7107665 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7107785 1 7107786 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs56379414 1 7108637 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs78084694 1 7110245 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7111378 1 7111379 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6577410 1 7112390 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120822 1 7113112 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7113906 1 7113907 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7114484 1 7114485 [T/A] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12133505 1 7114641 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs74707457 1 7118533 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908595 1 7119202 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72857534 1 7120631 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4436414 1 7120915 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7121793 1 7121794 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11588586 1 7121898 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6680259 1 7122308 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7122725 1 7122726 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs34096415 1 7126357 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7129387 1 7129388 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7129504 1 7129505 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7129619 1 7129620 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7131071 1 7131072 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120831 1 7131192 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs78203662 1 7131624 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9434824 1 7137637 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1009113 1 7143807 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7544611 1 7148455 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120838 1 7149639 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2071917 1 7150527 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2071918 1 7150577 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent 1:7151371-CA 1 7151371 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_A51E,Missense_A81E,Missense_A81E,Missense_A81E,Missense_A51E var_1_7151436 1 7151436 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72640073 1 7151479 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908438 1 7155254 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120840 1 7156082 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11580767 1 7156289 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120841 1 7157401 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7158960 1 7158961 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs78105520 1 7160117 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10779674 1 7160542 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7167137 1 7167138 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7167329 1 7167330 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7167362 1 7167363 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72640096 1 7167673 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7169525 1 7169526 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7169734 1 7169735 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7170120 1 7170121 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7170278 1 7170279 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7170331 1 7170332 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7170338 1 7170339 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs74051125 1 7171639 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7527268 1 7173895 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9434469 1 7177744 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs148701845 1 7178103 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7179091 1 7179092 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7532024 1 7179479 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908443 1 7179721 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7181621 1 7181622 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs116611046 1 7184369 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7186642 1 7186643 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs59582090 1 7186829 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12032971 1 7190806 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7191310 1 7191311 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7193835 1 7193836 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7194103 1 7194104 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120861 1 7196125 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908600 1 7196659 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7198513 1 7198514 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7201622 1 7201623 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs114007970 1 7201935 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs970973 1 7202190 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm-rs970973 1 7202190 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7202580 1 7202581 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12081791 1 7203077 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7207494 1 7207495 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7208031 1 7208032 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs77719430 1 7210962 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030384 1 7210974 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9434482 1 7211340 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7212340 1 7212341 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7215396 1 7215397 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9434483 1 7217727 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10779676 1 7217906 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908602 1 7220970 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6667429 1 7221458 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9434863 1 7221870 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7221869 1 7221870 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs143883209 1 7222964 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6577416 1 7231484 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs111444207 1 7234071 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs114979670 1 7235454 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7235453 1 7235454 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs147206132 1 7235606 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7237537 1 7237538 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7237831 1 7237832 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7238808 1 7238809 [T/A] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7240148 1 7240149 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908445 1 7241523 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7242568 1 7242569 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12735487 1 7245162 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908605 1 7245434 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7246783 1 7246784 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7247334 1 7247335 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7247354 1 7247355 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs115414176 1 7248180 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7518864 1 7250522 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs79516632 1 7251850 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120876 1 7252366 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs78720357 1 7252540 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72641234 1 7253054 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030562 1 7256943 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7257493 1 7257494 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7257737 1 7257738 [T/A] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12041504 1 7261128 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs115283646 1 7269037 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908448 1 7269283 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7270247 1 7270248 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs916393 1 7272250 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7274918 1 7274919 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6693822 1 7277836 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm2268862 1 7278011 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12084272 1 7278837 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72641240 1 7280137 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs148792392 1 7281655 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs74051196 1 7281934 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7282833 1 7282834 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7283110 1 7283111 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs115580340 1 7284834 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7284863 1 7284864 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs60820200 1 7285894 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7287979 1 7287980 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12144179 1 7288507 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7292347 1 7292348 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7297836 1 7297837 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs60940404 1 7305176 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7307866 1 7307867 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2067996 1 7310351 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7310816 1 7310817 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7536993 1 7311192 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908610 1 7311260 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6701870 1 7312258 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7312315 1 7312316 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7551574 1 7314363 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7315995 1 7315996 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6698548 1 7317541 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864289 1 7318448 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs78042251 1 7318470 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7321897 1 7321898 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7324462 1 7324463 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7325102 1 7325103 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7325254 1 7325255 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7325889 1 7325890 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7517429 1 7326201 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864290 1 7326245 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs116979456 1 7327669 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11583441 1 7327719 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2412148 1 7331060 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2412147 1 7331347 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7338705 1 7338706 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7338716 1 7338717 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7539551 1 7338813 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12409413 1 7342106 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7343058 1 7343059 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7343365 1 7343366 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6687562 1 7343666 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7344746 1 7344747 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7346792 1 7346793 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2001142 1 7348943 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1894654 1 7351434 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12754338 1 7352221 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs75207081 1 7353571 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7355783 1 7355784 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120896 1 7361338 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9659928 1 7362478 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12028405 1 7362831 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7362923 1 7362924 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7362929 1 7362930 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs149979151 1 7368672 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs113695303 1 7369706 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908619 1 7369931 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs56320801 1 7372199 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs189153410 1 7372938 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12128469 1 7375258 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7543711 1 7379198 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12563394 1 7380747 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7380764 1 7380765 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs143032520 1 7381393 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7383117 1 7383118 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7384442 1 7384443 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72863561 1 7385243 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2227212 1 7386633 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7387492 1 7387493 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7389285 1 7389286 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908620 1 7390099 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7390374 1 7390375 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs145178856 1 7393826 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12041403 1 7394728 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7395196 1 7395197 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7397603 1 7397604 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs117819824 1 7398674 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs116675862 1 7399500 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7400666 1 7400667 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7401654 1 7401655 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs56242696 1 7402410 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs705681 1 7402480 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs705680 1 7402502 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7403776 1 7403777 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864296 1 7403874 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs845246 1 7405293 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs845239 1 7409197 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs763173 1 7410182 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7410216 1 7410217 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7412644 1 7412645 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs143552363 1 7414582 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7422858 1 7422859 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7425850 1 7425851 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs845270 1 7426875 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs116976757 1 7427315 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs117164126 1 7427407 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7428706 1 7428707 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs75879498 1 7430538 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs59889992 1 7436572 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs845214 1 7436762 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs139267629 1 7440658 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7441961 1 7441962 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs79099964 1 7442452 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7444150 1 7444151 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NR_146199 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,LOC102725193 Silent,Silent,Silent,Silent,Silent,Silent rs845233 1 7446240 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NR_146199 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,LOC102725193 Silent,Silent,Silent,Silent,Silent,Silent rs2040433 1 7448154 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NR_146199 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,LOC102725193 Silent,Silent,Silent,Silent,Silent,Silent rs6658978 1 7450528 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7452102 1 7452103 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7460491 1 7460492 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7461038 1 7461039 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs845202 1 7464375 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7465814 1 7465815 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7535846 1 7471157 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7471269 1 7471270 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120917 1 7478076 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs77686617 1 7480092 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7480344 1 7480345 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7480729 1 7480730 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120919 1 7482205 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7482891 1 7482892 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120922 1 7485370 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864302 1 7487277 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7488352 1 7488353 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7488873 1 7488874 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs116644597 1 7489191 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs61772205 1 7489748 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030829 1 7491424 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs61229957 1 7491728 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193220 1 7492265 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9988557 1 7493231 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193224 1 7497407 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs114258814 1 7500283 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030865 1 7500586 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7500884 1 7500885 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12565108 1 7501060 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1775047 1 7501823 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7502990 1 7502991 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7506147 1 7506148 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7507270 1 7507271 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7508756 1 7508757 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7509439 1 7509440 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7510061 1 7510062 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7510494 1 7510495 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7511408 1 7511409 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs78786925 1 7511976 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs75838635 1 7513018 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6577445 1 7513025 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193247 1 7513252 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs61772213 1 7513294 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7514266 1 7514267 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7515997 1 7515998 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7516746 1 7516747 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7517946 1 7517947 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7518053 1 7518054 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7518105 1 7518106 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs78320724 1 7518625 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs116846827 1 7518658 [T/A] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17030902 1 7518698 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs146038015 1 7519653 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7519706 1 7519707 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1750837 1 7520601 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1725233 1 7520629 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1342480 1 7520980 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11805932 1 7521479 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1616122 1 7521585 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs144736910 1 7523582 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7524304 1 7524305 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6702132 1 7524476 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11804218 1 7525346 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs78670292 1 7526348 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1201529 1 7527996 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs76950860 1 7528575 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7530954 1 7530955 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs79217813 1 7532462 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7533902 1 7533903 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7534325 1 7534326 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7535398 1 7535399 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7538345 1 7538346 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193184 1 7538414 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6678279 1 7540770 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7541086 1 7541087 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2796483 1 7541345 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs74053039 1 7543000 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs947675 1 7548616 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7516475 1 7551425 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193230 1 7551631 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7551965 1 7551966 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs57077909 1 7552501 [T/A] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7552595 1 7552596 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7552827 1 7552828 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7553394 1 7553395 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7553553 1 7553554 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2693959 1 7554023 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs146279523 1 7554243 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7554434 1 7554435 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs75024805 1 7555008 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120948 1 7555103 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12029044 1 7556796 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864304 1 7557152 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs117183787 1 7557700 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs61772248 1 7558010 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7558788 1 7558789 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7560025 1 7560026 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1750851 1 7561152 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1725262 1 7562488 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7564216 1 7564217 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120957 1 7567325 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864305 1 7567346 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1725241 1 7567618 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12565334 1 7567768 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7568425 1 7568426 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7568585 1 7568586 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7569414 1 7569415 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193179 1 7569602 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs749958 1 7572262 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7573480 1 7573481 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7574790 1 7574791 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7529399 1 7575666 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6670316 1 7578713 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1750817 1 7578776 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7580107 1 7580108 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs190670453 1 7580258 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12403559 1 7581297 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs10864306 1 7581322 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm2268649 1 7584814 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7586468 1 7586469 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2013624 1 7588413 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1193167 1 7590448 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7593699 1 7593700 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7594398 1 7594399 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs2478266 1 7595233 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7595705 1 7595706 [T/A] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7595799 1 7595800 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7596465 1 7596466 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6577449 1 7598094 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72865437 1 7600328 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs35861465 1 7600769 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12407666 1 7600905 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1750824 1 7603317 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7604777 1 7604778 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7605279 1 7605280 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7607409 1 7607410 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7607897 1 7607898 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7608069 1 7608070 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7608245 1 7608246 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72865452 1 7609809 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs57697431 1 7610838 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7610861 1 7610862 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908654 1 7611606 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs957856 1 7613745 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7613849 1 7613850 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7613852 1 7613853 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs117000748 1 7615466 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7616234 1 7616235 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7616609 1 7616610 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17031113 1 7617484 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6697897 1 7617555 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12043374 1 7618117 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12066773 1 7620577 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6696544 1 7621589 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72643927 1 7623504 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7624930 1 7624931 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6667052 1 7625468 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17031145 1 7626995 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs187258723 1 7627796 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs75023994 1 7627979 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7629020 1 7629021 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs75895217 1 7633523 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7634162 1 7634163 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7526052 1 7634687 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs873433 1 7641388 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12076773 1 7643048 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7643314 1 7643315 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7644014 1 7644015 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7644205 1 7644206 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7644639 1 7644640 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7644820 1 7644821 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9988575 1 7646301 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7654301 1 7654302 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7654395 1 7654396 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7656424 1 7656425 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72630505 1 7657536 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs7520401 1 7657606 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs150199963 1 7665904 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7667542 1 7667543 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7670413 1 7670414 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7670419 1 7670420 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17031167 1 7672794 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs72867153 1 7674942 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6658290 1 7675192 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7677743 1 7677744 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs77526415 1 7681659 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12139380 1 7682237 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7693634 1 7693635 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7694658 1 7694659 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7694789 1 7694790 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs6661496 1 7697179 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm10368 1 7700514 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_G159S,Missense_G189S,Missense_G189S,Missense_G189S,Missense_G159S rs6659902 1 7700748 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7702008 1 7702009 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12751990 1 7702016 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs35866599 1 7704071 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7704088 1 7704089 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs61774184 1 7706303 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7707286 1 7707287 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7709080 1 7709081 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7709455 1 7709456 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7710809 1 7710810 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7712807 1 7712808 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs9434879 1 7713021 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908664 1 7714571 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs115027207 1 7715007 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7715176 1 7715177 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs17031253 1 7717080 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs74053155 1 7717333 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs74053157 1 7717682 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4564161 1 7718330 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs11120997 1 7720924 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent 1:7721917-GA 1 7721917 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_G236S,Missense_G266S,Missense_G266S,Missense_G266S,Missense_G236S JHU_1.7722590 1 7722591 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7722848 1 7722849 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent exm10390 1 7723593 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_K299R,Missense_K329R,Missense_K329R,Missense_K329R,Missense_K299R exm10391 1 7723607 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_V304M,Missense_V334M,Missense_V334M,Missense_V334M,Missense_V304M 1:7723716-CT 1 7723716 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_P340L,Missense_P370L,Missense_P370L,Missense_P370L,Missense_P340L exm10398 1 7723751 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S352A,Missense_S382A,Missense_S382A,Missense_S382A,Missense_S352A exm10399 1 7723754 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_G353S,Missense_G383S,Missense_G383S,Missense_G383S,Missense_G353S exm10401 1 7723796 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_A367T,Missense_A397T,Missense_A397T,Missense_A397T,Missense_A367T 1:7723832-GA 1 7723832 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_V379M,Missense_V409M,Missense_V409M,Missense_V409M,Missense_V379M exm10407 1 7723910 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_V405M,Missense_V435M,Missense_V435M,Missense_V435M,Missense_V405M 1:7723926-AC 1 7723926 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_H410P,Missense_H440P,Missense_H440P,Missense_H440P,Missense_H410P exm10416 1 7723991 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_E432K,Missense_E462K,Missense_E462K,Missense_E462K,Missense_E432K rs139719679 1 7723991 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_E432K,Missense_E462K,Missense_E462K,Missense_E462K,Missense_E432K exm1899859 1 7724045 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_T450A,Missense_T480A,Missense_T480A,Missense_T480A,Missense_T450A exm10421 1 7724105 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_G470C,Missense_G500C,Missense_G500C,Missense_G500C,Missense_G470C rs181017254 1 7724105 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_G470C,Missense_G500C,Missense_G500C,Missense_G500C,Missense_G470C exm10423 1 7724123 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_E476K,Missense_E506K,Missense_E506K,Missense_E506K,Missense_E476K exm10429 1 7724166 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_R490Q,Missense_R520Q,Missense_R520Q,Missense_R520Q,Missense_R490Q rs187356858 1 7724219 [T/A] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S508T,Missense_S538T,Missense_S538T,Missense_S538T,Missense_S508T exm10443 1 7724513 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S606G,Missense_S636G,Missense_S636G,Missense_S636G,Missense_S606G 1:7724534-GA 1 7724534 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_V613M,Missense_V643M,Missense_V643M,Missense_V643M,Missense_V613M exm10446 1 7724562 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S622L,Missense_S652L,Missense_S652L,Missense_S652L,Missense_S622L exm10452 1 7724697 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_A667V,Missense_A697V,Missense_A697V,Missense_A697V,Missense_A667V rs141259598 1 7724727 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S677C,Missense_S707C,Missense_S707C,Missense_S707C,Missense_S677C exm10454 1 7724727 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S677C,Missense_S707C,Missense_S707C,Missense_S707C,Missense_S677C 1:7724780-GA 1 7724780 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_G695R,Missense_G725R,Missense_G725R,Missense_G725R,Missense_G695R exm10458 1 7724804 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_V703I,Missense_V733I,Missense_V733I,Missense_V733I,Missense_V703I 1:7724986-CA 1 7724986 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_H763Q,Missense_H793Q,Missense_H793Q,Missense_H793Q,Missense_H763Q exm10476 1 7725114 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S806L,Missense_S836L,Missense_S836L,Missense_S836L,Missense_S806L 1:7725149-GA 1 7725149 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_V818I,Missense_V848I,Missense_V848I,Missense_V848I,Missense_V818I exm10480 1 7725170 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_A825T,Missense_A855T,Missense_A855T,Missense_A855T,Missense_A825T rs57938292 1 7727352 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs1891215 1 7727854 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7728596 1 7728597 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7729231 1 7729232 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs12736485 1 7729591 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent JHU_1.7729720 1 7729721 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent rs4908473 1 7731730 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115271564 1 7735582 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6673977 1 7736097 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs145550932 1 7737755 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_T929M,Missense_T959M,Missense_T959M,Missense_T959M,Missense_T929M,Silent,Silent,Silent,Silent,Silent,Silent exm10496 1 7737755 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_T929M,Missense_T959M,Missense_T959M,Missense_T959M,Missense_T929M,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7738421 1 7738422 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7738764 1 7738765 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7738857 1 7738858 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7739139 1 7739140 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs61205571 1 7739781 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7740852 1 7740853 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs71637394 1 7742168 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3124793 1 7744283 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7747571 1 7747572 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7748008 1 7748009 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77721345 1 7748009 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3121219 1 7748501 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7749698 1 7749699 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7753919 1 7753920 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7551807 1 7753948 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34268176 1 7755583 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs138775587 1 7756089 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7756569 1 7756570 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7757377 1 7757378 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7758125 1 7758126 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:7758439-T-C 1 7758439 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12756299 1 7758760 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17461217 1 7758798 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs149997714 1 7761132 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115569408 1 7763372 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7765173 1 7765174 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12120907 1 7766816 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3011937 1 7775407 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs143387766 1 7779652 [I/D] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 rs12028339 1 7784902 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115316691 1 7785529 [A/T] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7789183 1 7789184 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2301488 1 7792411 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm10502 1 7792520 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_R946K,Missense_R976K,Missense_R976K,Missense_R976K,Missense_R946K,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R19K,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11121010 1 7793979 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7794592 1 7794593 [G/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4908688 1 7795554 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7796265 1 7796266 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm10515 1 7796504 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_H1026R,Missense_H1056R,Missense_H1056R,Missense_H1056R,Missense_H1026R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H99R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R,Missense_H80R seq-rs863224853 1 7796567 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_Y1047C,Missense_Y1077C,Missense_Y1077C,Missense_Y1077C,Missense_Y1047C,Missense_Y101C,Missense_Y101C,Missense_Y101C,Missense_Y101C,Missense_Y101C,Missense_Y101C,Missense_Y120C,Missense_Y101C,Missense_Y101C,Missense_Y101C,Missense_Y101C,Missense_Y101C,Missense_Y101C,Missense_Y101C 1:7797002-CT 1 7797002 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_A1062V,Missense_A1092V,Missense_A1092V,Missense_A1092V,Missense_A1062V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A135V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V exm10535 1 7797503 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_N1147K,Missense_N1177K,Missense_N1177K,Missense_N1177K,Missense_N1147K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N220K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K,Missense_N201K 1:7797518-TG 1 7797518 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_C1152W,Missense_C1182W,Missense_C1182W,Missense_C1182W,Missense_C1152W,Missense_C206W,Missense_C206W,Missense_C206W,Missense_C206W,Missense_C206W,Missense_C206W,Missense_C225W,Missense_C206W,Missense_C206W,Missense_C206W,Missense_C206W,Missense_C206W,Missense_C206W,Missense_C206W chr1_7797528 1 7797528 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_E1156K,Missense_E1186K,Missense_E1186K,Missense_E1186K,Missense_E1156K,Missense_E210K,Missense_E210K,Missense_E210K,Missense_E210K,Missense_E210K,Missense_E210K,Missense_E229K,Missense_E210K,Missense_E210K,Missense_E210K,Missense_E210K,Missense_E210K,Missense_E210K,Missense_E210K exm10538 1 7797534 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_P1158S,Missense_P1188S,Missense_P1188S,Missense_P1188S,Missense_P1158S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P231S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S,Missense_P212S exm10541 1 7797570 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_E1170K,Missense_E1200K,Missense_E1200K,Missense_E1200K,Missense_E1170K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E243K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K,Missense_E224K exm10543 1 7797598 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_K1179R,Missense_K1209R,Missense_K1209R,Missense_K1209R,Missense_K1179R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K252R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R,Missense_K233R exm10544 1 7797619 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S1186N,Missense_S1216N,Missense_S1216N,Missense_S1216N,Missense_S1186N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S259N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N,Missense_S240N exm10545 1 7797625 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_N1188T,Missense_N1218T,Missense_N1218T,Missense_N1218T,Missense_N1188T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N261T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T,Missense_N242T exm10547 1 7797627 [C/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_P1189A,Missense_P1219A,Missense_P1219A,Missense_P1219A,Missense_P1189A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P262A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A,Missense_P243A 1:7798177-AG 1 7798177 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Silent,Silent,Silent,Missense_R1273G,Missense_R1243G,Silent,Silent,Silent,Missense_R297G,Silent,Missense_R297G,Missense_R316G,Silent,Missense_R297G,Silent,Missense_R297G,Silent,Missense_R297G,Silent 1:7798252-CT 1 7798252 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Silent,Silent,Silent,Missense_R1298W,Missense_R1268W,Silent,Silent,Silent,Missense_R322W,Silent,Missense_R322W,Missense_R341W,Silent,Missense_R322W,Silent,Missense_R322W,Silent,Missense_R322W,Silent exm10557 1 7798367 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_T1193I,Missense_T1223I,Missense_T1223I,Missense_T1336I,Missense_T1306I,Missense_T247I,Missense_T247I,Missense_T247I,Missense_T360I,Missense_T247I,Missense_T360I,Missense_T379I,Missense_T247I,Missense_T360I,Missense_T247I,Missense_T360I,Missense_T247I,Missense_T360I,Missense_T247I exm10562 1 7798493 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_R1235H,Missense_R1265H,Missense_R1265H,Missense_R1378H,Missense_R1348H,Missense_R289H,Missense_R289H,Missense_R289H,Missense_R402H,Missense_R289H,Missense_R402H,Missense_R421H,Missense_R289H,Missense_R402H,Missense_R289H,Missense_R402H,Missense_R289H,Missense_R402H,Missense_R289H rs142194570 1 7798493 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_R1235H,Missense_R1265H,Missense_R1265H,Missense_R1378H,Missense_R1348H,Missense_R289H,Missense_R289H,Missense_R289H,Missense_R402H,Missense_R289H,Missense_R402H,Missense_R421H,Missense_R289H,Missense_R402H,Missense_R289H,Missense_R402H,Missense_R289H,Missense_R402H,Missense_R289H exm10563 1 7798520 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_G1244D,Missense_G1274D,Missense_G1274D,Missense_G1387D,Missense_G1357D,Missense_G298D,Missense_G298D,Missense_G298D,Missense_G411D,Missense_G298D,Missense_G411D,Missense_G430D,Missense_G298D,Missense_G411D,Missense_G298D,Missense_G411D,Missense_G298D,Missense_G411D,Missense_G298D rs115379357 1 7800342 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2032563 1 7801288 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116329032 1 7801351 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:7804999-CA 1 7804999 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_D1286E,Missense_D1316E,Missense_D1316E,Missense_D1429E,Missense_D1399E,Missense_D340E,Missense_D340E,Missense_D340E,Missense_D453E,Missense_D340E,Missense_D453E,Missense_D472E,Missense_D340E,Missense_D453E,Missense_D340E,Missense_D453E,Missense_D340E,Missense_D453E,Missense_D340E rs2071986 1 7805208 [T/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:7805918-GA 1 7805918 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_E1319K,Missense_E1349K,Missense_E1349K,Missense_E1462K,Missense_E1432K,Missense_E373K,Missense_E373K,Missense_E373K,Missense_E486K,Missense_E373K,Missense_E486K,Missense_E505K,Missense_E373K,Missense_E486K,Missense_E373K,Missense_E486K,Missense_E373K,Missense_E486K,Missense_E373K 1:7805986-CA 1 7805986 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_F1341L,Missense_F1371L,Missense_F1371L,Missense_F1484L,Missense_F1454L,Missense_F395L,Missense_F395L,Missense_F395L,Missense_F508L,Missense_F395L,Missense_F508L,Missense_F527L,Missense_F395L,Missense_F508L,Missense_F395L,Missense_F508L,Missense_F395L,Missense_F508L,Missense_F395L exm10575 1 7806012 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_A1350V,Missense_A1380V,Missense_A1380V,Missense_A1493V,Missense_A1463V,Missense_A404V,Missense_A404V,Missense_A404V,Missense_A517V,Missense_A404V,Missense_A517V,Missense_A536V,Missense_A404V,Missense_A517V,Missense_A404V,Missense_A517V,Missense_A404V,Missense_A517V,Missense_A404V rs142200286 1 7811306 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_S1443R,Missense_S1473R,Missense_S1473R,Missense_S1579R,Missense_S1549R,Missense_S497R,Missense_S490R,Missense_S497R,Missense_S610R,Missense_S490R,Missense_S603R,Missense_S622R,Missense_S490R,Missense_S603R,Missense_S490R,Missense_S610R,Missense_S497R,Missense_S610R,Missense_S497R exm10586 1 7811361 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Missense_V1462M,Missense_V1492M,Missense_V1492M,Missense_V1598M,Missense_V1568M,Missense_V516M,Missense_V509M,Missense_V516M,Missense_V629M,Missense_V509M,Missense_V622M,Missense_V641M,Missense_V509M,Missense_V622M,Missense_V509M,Missense_V629M,Missense_V516M,Missense_V629M,Missense_V516M rs9919220 1 7811961 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.584 1 7812598 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7816164 1 7816165 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4908481 1 7816543 [A/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2051646 1 7817856 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7820464 1 7820465 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.7820465 1 7820466 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs707455 1 7825311 [A/G] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs697672 1 7826347 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_7826559 1 7826559 [T/C] NM_001349612,NM_001349609,NM_001349610,NM_015215,NM_001349608,NM_001349621,NM_001349623,NM_001349620,NM_001349614,NM_001349625,NM_001349617,NM_001349613,NM_001349624,NM_001349618,NM_001349626,NM_001349615,NM_001349619,NM_001349616,NM_001349622 CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Silent,Nonsense_Q1561X,Silent,Silent,Silent,Nonsense_Q585X,Nonsense_Q578X,Silent,Nonsense_Q698X,Silent,Silent,Nonsense_Q710X,Nonsense_Q578X,Silent,Silent,Nonsense_Q698X,Silent,Silent,Nonsense_Q585X rs2153733 1 7830262 [T/C] rs707457 1 7831064 [A/C] 1:7833566-GA 1 7833566 [A/G] NM_004781 VAMP3 EXON Missense_D23N rs2071987 1 7834026 [A/G] NM_004781 VAMP3 Silent rs111692854 1 7834434 [A/G] NM_004781 VAMP3 Silent 1:7838187-AG 1 7838187 [A/G] NM_004781 VAMP3 EXON Missense_I81V exm10611 1 7838228 [T/C] NM_004781 VAMP3 EXON Synonymous_I94I variant.587 1 7838230 [T/G] NM_004781 VAMP3 Silent rs75457749 1 7838263 [T/C] NM_004781 VAMP3 Silent rs707460 1 7838691 [T/C] NM_004781 VAMP3 Silent rs143041819 1 7838848 [T/C] NM_004781 VAMP3 Silent exm10623 1 7844989 [T/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_A18S,Silent,Missense_A18S,Missense_A18S,Missense_A18S rs697682 1 7845087 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm10627 1 7845505 [A/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_Q45K,Silent,Missense_Q45K,Missense_Q45K,Missense_Q45K rs228729 1 7845695 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent 1:7845695-T-C 1 7845695 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent newrs143519087 1 7846779 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent indel.590 1 7846786 [D/I] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON exm10643 1 7846795 [T/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_F97V,Silent,Missense_F97V,Missense_F97V,Missense_F97V exm10648 1 7846853 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_E116G,Silent,Missense_E116G,Missense_E116G,Missense_E116G rs200948632 1 7848124 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_F137S,Silent,Missense_F137S,Missense_F137S,Missense_F137S 1:7848142-GA 1 7848142 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R143K,Silent,Missense_R143K,Missense_R143K,Missense_R143K exm10658 1 7848255 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_A181T,Silent,Missense_A181T,Missense_A181T,Missense_A181T exm10659 1 7848256 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_A181V,Silent,Missense_A181V,Missense_A181V,Missense_A181V rs75307902 1 7849841 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent rs10864315 1 7850081 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent rs697686 1 7850218 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent indel.591 1 7854012 [I/D] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 1:7854041-CT 1 7854041 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P206L,Silent,Missense_P205L,Missense_P206L,Missense_P206L JHU_1.7856266 1 7856267 [A/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent rs185986774 1 7858718 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H260Y,Silent,Missense_H259Y,Missense_H260Y,Missense_H260Y 1:7858731-AG 1 7858731 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_E264G,Silent,Missense_E263G,Missense_E264G,Missense_E264G rs707467 1 7861684 [A/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent rs144520692 1 7861954 [T/A] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent rs201630401 1 7863120 [G/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_L296V,Silent,Missense_L295V,Missense_L296V,Missense_L296V exm10681 1 7863183 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R317C,Silent,Missense_R316C,Missense_R317C,Missense_R317C rs228642 1 7863293 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent 1:7863822-ACAT-A 1 7863822 [D/I] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON exm1908576 1 7863826 [T/A] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_I352L,Missense_I33L,Missense_I351L,Missense_I352L,Missense_I352L exm1908580 1 7863869 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R366Q,Missense_R47Q,Missense_R365Q,Missense_R366Q,Missense_R366Q rs191016322 1 7863869 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R366Q,Missense_R47Q,Missense_R365Q,Missense_R366Q,Missense_R366Q exm1908585 1 7863892 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R374W,Missense_R55W,Missense_R373W,Missense_R374W,Missense_R374W rs228666 1 7868725 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm10695 1 7869953 [G/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P415A,Missense_P96A,Missense_P414A,Missense_P415A,Missense_P415A exm10696 1 7869960 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H417R,Missense_H98R,Missense_H416R,Missense_H417R,Missense_H417R exm10698 1 7869968 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_V420M,Missense_V101M,Missense_V419M,Missense_V420M,Missense_V420M exm10706 1 7870517 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_Y464C,Missense_Y145C,Missense_Y463C,Missense_Y464C,Missense_Y464C exm10708 1 7870570 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_M482V,Missense_M163V,Missense_M481V,Missense_M482V,Missense_M482V 1:7870591-CT 1 7870591 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P489S,Missense_P170S,Missense_P488S,Missense_P489S,Missense_P489S exm10713 1 7870606 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R494C,Missense_R175C,Missense_R493C,Missense_R494C,Missense_R494C JHU_1.7871583 1 7871584 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent JHU_1.7878633 1 7878634 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent rs2797685 1 7879063 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm-rs2797685 1 7879063 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm1908713 1 7879377 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T519A,Missense_T200A,Missense_T511A,Missense_T512A,Missense_T519A exm10722 1 7879401 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T527A,Missense_T208A,Missense_T519A,Missense_T520A,Missense_T527A var_1_7879481 1 7879481 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent rs10462018 1 7879627 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm10732 1 7880251 [G/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_E579Q,Missense_E260Q,Missense_E571Q,Missense_E572Q,Missense_E579Q chr1_7880269 1 7880269 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H585Y,Missense_H266Y,Missense_H577Y,Missense_H578Y,Missense_H585Y rs72855237 1 7880372 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent 1:7880644-GA 1 7880644 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_G634D,Missense_G315D,Missense_G626D,Missense_G627D,Missense_G634D 1:7880680-AG 1 7880680 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H646R,Missense_H327R,Missense_H638R,Missense_H639R,Missense_H646R exm10746 1 7880683 [T/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_V647G,Missense_V328G,Missense_V639G,Missense_V640G,Missense_V647G rs10127838 1 7881780 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent JHU_1.7881918 1 7881919 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent 1:7886587-CA 1 7886587 [A/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P669T,Missense_P350T,Missense_P661T,Missense_P662T,Missense_P669T chr1_7886723 1 7886723 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_Y714C,Missense_Y395C,Missense_Y706C,Missense_Y707C,Missense_Y714C exm10759 1 7886750 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_A723V,Missense_A404V,Missense_A715V,Missense_A716V,Missense_A723V chr1_7887181 1 7887181 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_D731G,Missense_D412G,Missense_D723G,Missense_D724G,Missense_D731G exm10762 1 7887234 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R749W,Missense_R430W,Missense_R741W,Missense_R742W,Missense_R749W exm10764 1 7887262 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_S758N,Missense_S439N,Missense_S750N,Missense_S751N,Missense_S758N 1:7887288-CT 1 7887288 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P767S,Missense_P448S,Missense_P759S,Missense_P760S,Missense_P767S 1:7887304-AG 1 7887304 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H772R,Missense_H453R,Missense_H764R,Missense_H765R,Missense_H772R 1:7887424-TC 1 7887424 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_L812P,Missense_L493P,Missense_L804P,Missense_L805P,Missense_L812P exm10780 1 7887493 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_L835P,Missense_L516P,Missense_L827P,Missense_L828P,Missense_L835P exm10782 1 7887499 [T/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_L837W,Missense_L518W,Missense_L829W,Missense_L830W,Missense_L837W exm10783 1 7887504 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_E839K,Missense_E520K,Missense_E831K,Missense_E832K,Missense_E839K exm10785 1 7887516 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P843S,Missense_P524S,Missense_P835S,Missense_P836S,Missense_P843S exm10792 1 7887573 [C/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_D862H,Missense_D543H,Missense_D854H,Missense_D855H,Missense_D862H indel.601 1 7887574 [D/I] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON rs228697 1 7887579 [G/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P864A,Missense_P545A,Missense_P856A,Missense_P857A,Missense_P864A 1:7887579-C-G 1 7887579 [G/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P864A,Missense_P545A,Missense_P856A,Missense_P857A,Missense_P864A 1:7887633-AG 1 7887633 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T882A,Missense_T563A,Missense_T874A,Missense_T875A,Missense_T882A exm10799 1 7887685 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_L899P,Missense_L580P,Missense_L891P,Missense_L892P,Missense_L899P 1:7888215-A-G 1 7888215 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent rs2859388 1 7888215 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm10815 1 7889984 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H992Y,Missense_H673Y,Missense_H984Y,Missense_H985Y,Missense_H993Y exm10829 1 7890107 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T1015A,Missense_T714A,Missense_T1025A,Missense_T1008A,Missense_T1034A rs2640909 1 7890117 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_M1018T,Missense_M717T,Missense_M1028T,Missense_M1011T,Missense_M1037T exm10832 1 7890123 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_L1020S,Missense_L719S,Missense_L1030S,Missense_L1013S,Missense_L1039S exm10833 1 7890135 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_R1024K,Missense_R723K,Missense_R1034K,Missense_R1017K,Missense_R1043K exm10836 1 7890153 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T1030I,Missense_T729I,Missense_T1040I,Missense_T1023I,Missense_T1049I exm10838 1 7890179 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_P1039S,Missense_P738S,Missense_P1049S,Missense_P1032S,Missense_P1058S exm10846 1 7895841 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_I1059M,Missense_I758M,Missense_I1069M,Missense_I1052M,Missense_I1078M exm10847 1 7895864 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_S1067F,Missense_S766F,Missense_S1077F,Missense_S1060F,Missense_S1086F 1:7895932-GA 1 7895932 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_A1090T,Missense_A789T,Missense_A1100T,Missense_A1083T,Missense_A1109T 1:7895966-CT 1 7895966 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T1101I,Missense_T800I,Missense_T1111I,Missense_T1094I,Missense_T1120I rs10462021 1 7897133 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H1139R,Missense_H838R,Missense_H1149R,Missense_H1132R,Missense_H1158R exm10854 1 7897133 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_H1139R,Missense_H838R,Missense_H1149R,Missense_H1132R,Missense_H1158R exm10855 1 7897136 [T/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_G1140V,Missense_G839V,Missense_G1150V,Missense_G1133V,Missense_G1159V indel.606 1 7897139 [I/D] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON 1:7897163-AG 1 7897163 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_Y1149C,Missense_Y848C,Missense_Y1159C,Missense_Y1142C,Missense_Y1168C variant.607 1 7897180 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Nonsense_Q1155X,Nonsense_Q854X,Nonsense_Q1165X,Nonsense_Q1148X,Nonsense_Q1174X exm10857 1 7897189 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T1158A,Missense_T857A,Missense_T1168A,Missense_T1151A,Missense_T1177A Variant12309 1 7897192 [D/I] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON rs145814649 1 7897471 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent JHU_1.7897614 1 7897615 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent JHU_1.7900394 1 7900395 [T/A] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 Silent,Silent,Silent,Silent,Silent exm10859 1 7902736 [G/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_C1166S,Missense_C865S,Missense_C1176S,Missense_C1159S,Missense_C1185S exm10865 1 7902777 [A/G] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Missense_T1180A,Missense_T879A,Missense_T1190A,Missense_T1173A,Missense_T1199A 1:7904011-CT 1 7904011 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Silent,Silent,Silent,Silent,Silent rs12731471 1 7904699 [T/C] NM_001289861,NM_001289864,NM_016831,NM_001289863,NM_001289862 PER3,PER3,PER3,PER3,PER3 EXON Silent,Silent,Silent,Silent,Silent Variant12310 1 7906786 [I/D] rs74373240 1 7906888 [T/C] JHU_1.7907615 1 7907616 [A/G] 1:7907835-G-GTAT 1 7907835 [I/D] NM_006786,NM_021995 UTS2,UTS2 EXON variant.609 1 7907859 [T/C] NM_006786,NM_021995 UTS2,UTS2 EXON Synonymous_E114E,Synonymous_E129E exm10872 1 7907918 [T/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_P95T,Missense_P110T exm10873 1 7907931 [T/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_F90L,Missense_F105L exm10875 1 7909737 [T/C] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_S74N,Missense_S89N var_1_7909739 1 7909739 [D/I] NM_006786,NM_021995 UTS2,UTS2 EXON rs170629 1 7910391 [A/G] NM_006786,NM_021995 UTS2,UTS2 Silent,Silent indel.611 1 7910890 [D/I] NM_006786,NM_021995 UTS2,UTS2 EXON 1:7910934-GA 1 7910934 [A/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_S51F,Missense_S66F exm10877 1 7910934 [A/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_S51F,Missense_S66F rs79479445 1 7911221 [A/G] NM_006786,NM_021995 UTS2,UTS2 Silent,Silent rs3753500 1 7911302 [T/C] NM_006786,NM_021995 UTS2,UTS2 Silent,Silent rs3753499 1 7911437 [T/C] NM_006786,NM_021995 UTS2,UTS2 Silent,Silent JHU_1.7911628 1 7911629 [A/G] NM_006786,NM_021995 UTS2,UTS2 Silent,Silent rs115506976 1 7912490 [T/C] NM_006786,NM_021995 UTS2,UTS2 Silent,Silent exm10887 1 7912975 [A/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_S30F,Missense_S45F 1:7913015-GA 1 7913015 [A/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_P17S,Silent exm10891 1 7913029 [A/G] NM_006786,NM_021995 UTS2,UTS2 EXON Missense_I12T,Silent exm10894 1 7913406 [T/G] NM_021995 UTS2 EXON Missense_N29T rs228648 1 7913430 [A/G] NM_021995 UTS2 EXON Missense_T21M chr1_7913433 1 7913433 [A/G] NM_021995 UTS2 EXON Missense_S20F exm10896 1 7913445 [T/C] NM_021995 UTS2 EXON Missense_R16Q rs11582983 1 7916387 [T/C] rs228636 1 7917557 [T/C] rs707476 1 7918106 [T/C] rs183461 1 7920216 [A/C] rs2859389 1 7920423 [T/C] rs66874149 1 7921207 [A/T] rs531485 1 7921952 [T/G] JHU_1.7923037 1 7923038 [T/G] rs7525916 1 7923038 [T/G] JHU_1.7924953 1 7924954 [A/C] JHU_1.7926284 1 7926285 [T/C] rs504560 1 7926542 [A/G] rs472774 1 7926794 [T/C] rs12042223 1 7927659 [A/G] rs753380 1 7928352 [G/C] 1:7932090-A-G 1 7932090 [A/G] rs228716 1 7936272 [T/G] rs12044460 1 7937656 [T/C] rs228703 1 7944264 [A/G] rs72633060 1 7946441 [A/G] rs227164 1 7946604 [T/A] JHU_1.7952136 1 7952137 [T/C] rs1040397 1 7952427 [A/G] JHU_1.7954201 1 7954202 [T/C] JHU_1.7955113 1 7955114 [T/C] JHU_1.7955436 1 7955437 [T/A] rs170551 1 7955894 [A/G] JHU_1.7956319 1 7956320 [A/G] JHU_1.7956733 1 7956734 [A/C] rs72633070 1 7957532 [T/C] rs227163 1 7961206 [T/C] rs12068202 1 7961294 [A/G] rs35554366 1 7962661 [T/C] JHU_1.7962930 1 7962931 [A/G] rs72633081 1 7964017 [A/G] rs151168901 1 7964048 [A/G] rs113697402 1 7964693 [A/G] rs665244 1 7970248 [A/C] rs679563 1 7971078 [A/G] JHU_1.7972200 1 7972201 [A/G] JHU_1.7973314 1 7973315 [A/G] JHU_1.7974246 1 7974247 [G/C] JHU_1.7974399 1 7974400 [G/C] rs12082548 1 7976332 [A/C] NM_001561 TNFRSF9 EXON Silent exm2264984 1 7980338 [A/G] NM_001561 TNFRSF9 EXON Silent 1:7980912-CCTT-C 1 7980912 [I/D] NM_001561 TNFRSF9 EXON rs145568477 1 7981789 [A/C] NM_001561 TNFRSF9 Silent JHU_1.7983451 1 7983452 [T/C] NM_001561 TNFRSF9 Silent JHU_1.7986361 1 7986362 [T/C] NM_001561 TNFRSF9 Silent JHU_1.7991135 1 7991136 [A/G] NM_001561 TNFRSF9 Silent rs863171 1 7992615 [T/C] NM_001561 TNFRSF9 Silent 1:7993255-CT 1 7993255 [T/C] NM_001561 TNFRSF9 EXON Missense_G216S 1:7993304-CA 1 7993304 [A/C] NM_001561 TNFRSF9 EXON Missense_L199F exm10911 1 7993317 [G/C] NM_001561 TNFRSF9 EXON Missense_T195R 1:7993323-GA 1 7993323 [A/G] NM_001561 TNFRSF9 EXON Missense_A193V exm10915 1 7995090 [T/G] NM_001561 TNFRSF9 EXON Missense_A176D exm10916 1 7995111 [A/G] NM_001561 TNFRSF9 EXON Missense_A169V exm10918 1 7995117 [A/G] NM_001561 TNFRSF9 EXON Missense_P167L rs77740280 1 7997250 [T/A] NM_001561 TNFRSF9 Silent 1:7997762-CT 1 7997762 [T/C] NM_001561 TNFRSF9 EXON Missense_R134Q 1:7997784-CT 1 7997784 [T/C] NM_001561 TNFRSF9 EXON Missense_D127N exm10928 1 7998254 [T/G] NM_001561 TNFRSF9 EXON Missense_K115N exm10934 1 7998390 [T/C] NM_001561 TNFRSF9 EXON Missense_G70D exm10937 1 7998823 [T/C] NM_001561 TNFRSF9 EXON Missense_A56T 1:7998849-GA 1 7998849 [A/G] NM_001561 TNFRSF9 EXON Missense_P47L rs161811 1 7999602 [T/C] NM_001561 TNFRSF9 Silent variant.617 1 7999982 [A/G] NM_001561 TNFRSF9 EXON Nonsense_Q25X JHU_1.8000496 1 8000497 [A/G] NM_001561 TNFRSF9 Silent 1:8000797-T-C 1 8000797 [T/C] NM_001561 TNFRSF9 Silent JHU_1.8001465 1 8001466 [A/C] NM_001561 TNFRSF9 Silent JHU_1.8001466 1 8001467 [A/G] NM_001561 TNFRSF9 Silent JHU_1.8002266 1 8002267 [A/G] NM_001561 TNFRSF9 Silent JHU_1.8003289 1 8003290 [T/C] rs76648881 1 8007595 [T/C] JHU_1.8008261 1 8008262 [T/C] rs75766272 1 8009985 [T/C] rs150914 1 8015436 [T/G] rs161799 1 8015560 [A/G] JHU_1.8017528 1 8017529 [A/C] rs3766606 1 8022197 [T/G] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent 1:8022923-G-A 1 8022923 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_M26I,Missense_M26I rs7528618 1 8024550 [T/C] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent rs4908488 1 8024592 [T/C] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent exm10955 1 8025459 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_A56T,Missense_A56T 1:8025485-G-C 1 8025485 [C/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_E64D,Missense_E64D rs34124834 1 8028930 [T/G] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent variant.620 1 8029464 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Synonymous_E84E,Synonymous_E84E JHU_1.8029493 1 8029494 [T/G] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent JHU_1.8030299 1 8030300 [A/G] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent JHU_1.8030844 1 8030845 [A/G] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent exm10965 1 8030994 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_R98Q,Missense_R98Q exm1909227 1 8031000 [C/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_G100A,Missense_G100A 1:8031011-GA 1 8031011 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_A104T,Missense_A104T rs116458427 1 8033155 [T/C] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent rs77604501 1 8040649 [T/C] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent rs225119 1 8044361 [T/C] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent exm10972 1 8044990 [A/C] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_D149A,Missense_D149A rs74315352 1 8044990 [A/C] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_D149A,Missense_D149A indel.625 1 8045015 [D/I] NM_001123377,NM_007262 PARK7,PARK7 EXON rs74315354 1 8045031 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_E163K,Missense_E163K 1:8045031-G-A 1 8045031 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_E163K,Missense_E163K 1:8045041-T-C 1 8045041 [T/C] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_L166P,Missense_L166P exm10979 1 8045079 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_A179T,Missense_A179T exm-rs12727642 1 8046672 [A/C] JHU_1.8053049 1 8053050 [T/C] JHU_1.8055617 1 8055618 [T/C] rs426561 1 8057254 [T/C] JHU_1.8058878 1 8058879 [A/C] JHU_1.8067503 1 8067504 [A/T] 1:8073341-CA 1 8073341 [A/C] NM_018948 ERRFI1 EXON Missense_D440Y exm10985 1 8073398 [T/C] NM_018948 ERRFI1 EXON Missense_A421T exm10999 1 8073700 [A/G] NM_018948 ERRFI1 EXON Missense_P320L exm11005 1 8073830 [T/C] NM_018948 ERRFI1 EXON Missense_D277N exm11011 1 8073919 [T/C] NM_018948 ERRFI1 EXON Missense_R247K exm11013 1 8073925 [T/C] NM_018948 ERRFI1 EXON Missense_R245K exm11015 1 8073943 [A/G] NM_018948 ERRFI1 EXON Missense_P239L exm11021 1 8074094 [A/G] NM_018948 ERRFI1 EXON Missense_S189P 1:8074258-TC 1 8074258 [T/C] NM_018948 ERRFI1 EXON Missense_K134R exm11035 1 8074334 [T/C] NM_018948 ERRFI1 EXON Missense_D109N exm11051 1 8075618 [T/C] NM_018948 ERRFI1 EXON Missense_H21R JHU_1.8078433 1 8078434 [A/G] NM_018948 ERRFI1 Silent rs117451191 1 8082764 [A/G] NM_018948 ERRFI1 Silent JHU_1.8089799 1 8089800 [A/G] rs145738467 1 8092480 [T/C] JHU_1.8092748 1 8092749 [T/A] JHU_1.8093371 1 8093372 [T/G] rs11799555 1 8094200 [T/G] rs225132 1 8095500 [T/G] rs225133 1 8098462 [A/G] rs115818865 1 8099171 [A/T] JHU_1.8102045 1 8102046 [T/G] JHU_1.8103159 1 8103160 [A/C] rs17032042 1 8106987 [T/G] JHU_1.8108475 1 8108476 [T/C] rs7525428 1 8118634 [T/C] rs4908724 1 8119251 [T/G] rs192422258 1 8124644 [A/G] JHU_1.8128626 1 8128627 [A/C] rs55755756 1 8139631 [A/G] rs117550812 1 8146704 [A/T] rs117015968 1 8148435 [T/C] JHU_1.8149310 1 8149311 [T/C] rs72634258 1 8150638 [T/C] rs12130342 1 8157027 [T/C] JHU_1.8160248 1 8160249 [A/G] rs12081139 1 8160832 [T/C] rs142418353 1 8164715 [T/C] rs114109502 1 8164816 [T/C] JHU_1.8168260 1 8168261 [T/A] rs7523335 1 8180210 [A/G] rs6577466 1 8182535 [T/G] rs4908736 1 8187211 [A/G] rs56306261 1 8187229 [A/C] rs9435004 1 8188123 [A/T] JHU_1.8188693 1 8188694 [T/G] rs7527904 1 8189854 [T/C] rs12144409 1 8191889 [T/C] rs7545284 1 8192898 [A/G] rs1542387 1 8193294 [T/C] rs139257812 1 8194962 [T/C] rs7529511 1 8195226 [T/C] rs9435016 1 8196599 [T/C] JHU_1.8198308 1 8198309 [A/G] JHU_1.8200145 1 8200146 [G/C] JHU_1.8200156 1 8200157 [A/G] rs6701300 1 8200690 [A/G] JHU_1.8207493 1 8207494 [A/G] rs115213768 1 8208246 [T/C] rs182346485 1 8208483 [T/C] rs12564077 1 8212425 [T/C] JHU_1.8213872 1 8213873 [T/C] JHU_1.8215510 1 8215511 [T/C] JHU_1.8216164 1 8216165 [T/C] rs11121117 1 8217303 [T/C] rs17509146 1 8218115 [G/C] rs140182848 1 8220090 [A/G] rs12075108 1 8221224 [T/C] JHU_1.8221581 1 8221582 [A/C] rs17032281 1 8222156 [A/G] JHU_1.8224010 1 8224011 [A/G] JHU_1.8224028 1 8224029 [A/G] rs78872232 1 8224147 [A/G] rs74053806 1 8226573 [T/C] JHU_1.8227071 1 8227072 [T/C] JHU_1.8230102 1 8230103 [T/A] rs72859367 1 8234547 [T/C] rs150105978 1 8242029 [T/C] rs6663882 1 8244145 [A/G] JHU_1.8248508 1 8248509 [A/C] JHU_1.8249353 1 8249354 [A/G] rs72859389 1 8252684 [A/C] rs61236001 1 8259618 [T/C] rs7548511 1 8267513 [A/G] JHU_1.8269722 1 8269723 [A/G] NR_125998 LINC01714 Silent rs74666928 1 8270739 [T/C] NR_125998 LINC01714 Silent JHU_1.8270738 1 8270739 [T/C] NR_125998 LINC01714 Silent rs431189 1 8271108 [C/G] NR_125998 LINC01714 Silent rs11121131 1 8272231 [A/G] NR_125998 LINC01714 Silent rs6683603 1 8273177 [T/G] NR_125998 LINC01714 Silent rs117978503 1 8273386 [T/C] NR_125998 LINC01714 Silent rs12041676 1 8273392 [A/G] NR_125998 LINC01714 Silent rs405689 1 8273551 [T/C] NR_125998 LINC01714 Silent rs390468 1 8274018 [A/G] NR_125998 LINC01714 Silent rs78732195 1 8274569 [A/G] NR_125998 LINC01714 Silent JHU_1.8274736 1 8274737 [A/G] NR_125998 LINC01714 EXON Silent rs411654 1 8274807 [A/G] NR_125998 LINC01714 Silent rs72635723 1 8275790 [A/G] JHU_1.8278115 1 8278116 [A/G] rs428180 1 8278899 [A/C] rs78863888 1 8279716 [T/C] JHU_1.8283999 1 8284000 [T/C] JHU_1.8284018 1 8284019 [A/G] JHU_1.8284058 1 8284059 [A/C] rs11589993 1 8284497 [A/G] JHU_1.8285124 1 8285125 [A/G] rs11121137 1 8287391 [A/G] rs382192 1 8289660 [A/G] rs299499 1 8292761 [A/G] JHU_1.8293750 1 8293751 [A/G] rs7528376 1 8295130 [T/C] rs72635742 1 8298557 [A/G] JHU_1.8301493 1 8301494 [A/G] JHU_1.8305220 1 8305221 [A/T] rs12403649 1 8306031 [T/C] rs6697815 1 8307849 [T/G] rs11583166 1 8310062 [A/G] rs72635752 1 8310956 [A/G] rs4301655 1 8313894 [A/G] JHU_1.8314661 1 8314662 [T/C] rs77263067 1 8320007 [A/G] rs72635768 1 8322818 [A/G] JHU_1.8323167 1 8323168 [T/C] rs116209262 1 8323168 [T/C] JHU_1.8324841 1 8324842 [T/C] rs72862649 1 8326968 [A/G] JHU_1.8327263 1 8327264 [T/G] JHU_1.8332419 1 8332420 [T/C] JHU_1.8335788 1 8335789 [T/C] JHU_1.8336373 1 8336374 [T/C] rs72862657 1 8336374 [T/C] rs438895 1 8338355 [A/G] rs536218 1 8338637 [A/T] rs76121722 1 8342686 [A/G] JHU_1.8343099 1 8343100 [T/C] JHU_1.8346035 1 8346036 [T/A] rs61650694 1 8352229 [T/C] rs72862684 1 8352240 [T/C] rs299689 1 8352398 [T/C] rs3850464 1 8355467 [A/T] JHU_1.8355549 1 8355550 [A/G] rs78232287 1 8355669 [A/C] JHU_1.8359108 1 8359109 [A/C] JHU_1.8359778 1 8359779 [T/A] rs4908749 1 8363042 [A/C] JHU_1.8363411 1 8363412 [A/G] JHU_1.8363441 1 8363442 [A/G] JHU_1.8369912 1 8369913 [A/C] rs146830452 1 8373131 [A/G] rs966134 1 8373208 [A/G] JHU_1.8373579 1 8373580 [T/G] rs114064548 1 8376397 [T/C] JHU_1.8380793 1 8380794 [T/C] NM_001080397 SLC45A1 Silent rs12132135 1 8382607 [A/G] NM_001080397 SLC45A1 Silent rs7517675 1 8382681 [A/G] NM_001080397 SLC45A1 Silent 1:8384441-GA 1 8384441 [A/G] NM_001080397 SLC45A1 EXON Missense_V52M 1:8384574-CT 1 8384574 [T/C] NM_001080397 SLC45A1 EXON Missense_P96L 1:8384778-CA 1 8384778 [A/C] NM_001080397 SLC45A1 EXON Missense_P164H exm2275212 1 8384785 [T/C] NM_001080397 SLC45A1 EXON Synonymous_L166L exm11086 1 8385397 [A/G] NM_001080397 SLC45A1 EXON Missense_R180Q 1:8385928-GA 1 8385928 [A/G] NM_001080397 SLC45A1 EXON Missense_A215T 1:8385976-GA 1 8385976 [A/G] NM_001080397 SLC45A1 EXON Missense_V231M exm11100 1 8386006 [C/G] NM_001080397 SLC45A1 EXON Missense_A241P exm11101 1 8386007 [T/C] NM_001080397 SLC45A1 EXON Missense_A241V exm11103 1 8386016 [T/C] NM_001080397 SLC45A1 EXON Missense_A244V rs9628987 1 8386730 [A/C] NM_001080397 SLC45A1 Silent rs76866917 1 8389131 [T/C] NM_001080397 SLC45A1 Silent JHU_1.8389152 1 8389153 [T/C] NM_001080397 SLC45A1 Silent 1:8390428-CT 1 8390428 [T/C] NM_001080397 SLC45A1 EXON Missense_P326L 1:8390545-CA 1 8390545 [A/C] NM_001080397 SLC45A1 EXON Missense_A365D chr1_8390572 1 8390572 [T/C] NM_001080397 SLC45A1 EXON Missense_P374L exm11141 1 8390731 [A/G] NM_001080397 SLC45A1 EXON Missense_G427D exm11145 1 8390781 [A/G] NM_001080397 SLC45A1 EXON Missense_G444S 1:8390799-CT 1 8390799 [T/C] NM_001080397 SLC45A1 EXON Missense_R450C rs11586622 1 8392395 [A/G] NM_001080397 SLC45A1 Silent rs35167234 1 8393871 [T/C] NM_001080397 SLC45A1 Silent JHU_1.8394235 1 8394236 [T/C] NM_001080397 SLC45A1 Silent rs12711517 1 8394236 [T/C] NM_001080397 SLC45A1 Silent rs139754405 1 8395028 [T/C] NM_001080397 SLC45A1 Silent 1:8395515-AC 1 8395515 [A/C] NM_001080397 SLC45A1 EXON Missense_N522H exm11163 1 8395521 [A/G] NM_001080397 SLC45A1 EXON Missense_V524M rs7535752 1 8395560 [T/G] NM_001080397 SLC45A1 EXON Missense_A537S exm11166 1 8395560 [T/G] NM_001080397 SLC45A1 EXON Missense_A537S JHU_1.8396960 1 8396961 [A/G] NM_001080397 SLC45A1 Silent 1:8397086-A-G 1 8397086 [A/G] NM_001080397 SLC45A1 Silent rs7520373 1 8397803 [T/C] NM_001080397 SLC45A1 Silent exm11185 1 8397995 [A/G] NM_001080397 SLC45A1 EXON Missense_V607M rs76419978 1 8398288 [C/G] NM_001080397 SLC45A1 Silent rs7548093 1 8399282 [A/G] NM_001080397 SLC45A1 Silent rs72636904 1 8402594 [T/C] NM_001080397 SLC45A1 Silent exm11203 1 8403835 [A/G] NM_001080397 SLC45A1 EXON Missense_R704Q exm11205 1 8403840 [A/G] NM_001080397 SLC45A1 EXON Missense_G706S exm11207 1 8403906 [G/C] NM_001080397 SLC45A1 EXON Missense_V728L JHU_1.8404769 1 8404770 [A/C] JHU_1.8405013 1 8405014 [A/G] rs74049610 1 8406190 [G/C] rs61785859 1 8406443 [T/C] JHU_1.8406442 1 8406443 [T/C] rs142827317 1 8410274 [G/C] rs8627 1 8412935 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Silent,Silent,Silent rs1064826 1 8412989 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Silent,Silent,Silent rs1889853 1 8415290 [A/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent exm11225 1 8415618 [T/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_P1510T,Missense_P956T,Missense_P1510T exm11230 1 8416160 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_G1496S,Missense_G942S,Missense_G1496S rs115580344 1 8417157 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs372342722 1 8417259 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs75051448 1 8418219 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent 1:8418531-AG 1 8418531 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_I1355T,Missense_I801T,Missense_I1355T 1:8418697-GA 1 8418697 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_R1300C,Missense_R746C,Missense_R1300C 1:8418706-GA 1 8418706 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_P1297S,Missense_P743S,Missense_P1297S ilmnseq_rs878853270 1 8418810 [C/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_P1262R,Missense_P708R,Missense_P1262R rs202220461 1 8418946 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_L1217F,Missense_L663F,Missense_L1217F rs139616487 1 8419251 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8419401 1 8419402 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8419419 1 8419420 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent exm11297 1 8419891 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_R1184Q,Missense_R630Q,Missense_R1184Q rs201449768 1 8419928 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_R1172C,Missense_R618C,Missense_R1172C 1:8419978-GA 1 8419978 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_A1155V,Missense_A601V,Missense_A1155V 1:8420266-CT 1 8420266 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_A1101T,Missense_A547T,Missense_A1101T 1:8420340-GA 1 8420340 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_S1076L,Missense_S522L,Missense_S1076L 1:8420551-CT 1 8420551 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_G1006R,Missense_G452R,Missense_G1006R 1:8420722-GA 1 8420722 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_P949S,Missense_P395S,Missense_P949S exm11354 1 8421186 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_P794L,Missense_P240L,Missense_P794L JHU_1.8421202 1 8421203 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Synonymous_P788P,Synonymous_P234P,Synonymous_P788P 1:8421370-TC 1 8421370 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_M733V,Missense_M179V,Missense_M733V 1:8421490-CT 1 8421490 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_V693I,Missense_V139I,Missense_V693I rs149900041 1 8421875 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_A655V,Missense_A101V,Missense_A655V exm11374 1 8421875 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_A655V,Missense_A101V,Missense_A655V exm11375 1 8421890 [T/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_Q650P,Missense_Q96P,Missense_Q650P rs2252865 1 8422676 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent exm11380 1 8422837 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_N603S,Missense_N49S,Missense_N603S rs183116418 1 8423900 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs12118524 1 8424029 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent 1:8424258-CT 1 8424258 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_R533H,Silent,Missense_R533H JHU_1.8424984 1 8424985 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent 1:8425971-GA 1 8425971 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_H450Y,Silent,Missense_H450Y 1:8426387-A-G 1 8426387 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8427706 1 8427707 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs144667432 1 8428726 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8429594 1 8429595 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs140365290 1 8431840 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8432567 1 8432568 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs141800242 1 8432861 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8434011 1 8434012 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8434263 1 8434264 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs34089283 1 8436571 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs185886361 1 8444203 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8445184 1 8445185 [A/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs2120461 1 8447722 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs147651960 1 8450993 [T/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8451712 1 8451713 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent 1:8452484-A-G 1 8452484 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs185665511 1 8453167 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8457663 1 8457664 [A/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8458729 1 8458730 [A/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8462574 1 8462575 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent 1:8464602-A-G 1 8464602 [A/G] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent 1:8472994-A-T 1 8472994 [T/A] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs143211292 1 8479549 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent rs301806 1 8482078 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent JHU_1.8482296 1 8482297 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE Silent,Silent,Silent exm11420 1 8482797 [T/C] NM_001042681,NM_001042682,NM_012102 RERE,RERE,RERE EXON Missense_N425S,Silent,Missense_N425S rs301797 1 8487323 [A/C] NM_001042681,NM_012102,NR_125999 RERE,RERE,LOC102724552 Silent,Silent,Silent rs301798 1 8488565 [A/G] NM_001042681,NM_012102,NR_125999 RERE,RERE,LOC102724552 EXON Silent,Silent,Silent JHU_1.8490319 1 8490320 [T/G] NM_001042681,NM_012102,NR_125999 RERE,RERE,LOC102724552 Silent,Silent,Silent rs78197715 1 8492467 [T/C] NM_001042681,NM_012102,NR_125999 RERE,RERE,LOC102724552 Silent,Silent,Silent rs142162391 1 8492493 [A/G] NM_001042681,NM_012102,NR_125999 RERE,RERE,LOC102724552 Silent,Silent,Silent 1:8493911-T-C 1 8493911 [T/C] NM_001042681,NM_012102,NR_125999 RERE,RERE,LOC102724552 Silent,Silent,Silent seq_rs301801 1 8495945 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs301801 1 8495945 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs2784739 1 8497558 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs74960248 1 8504566 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8507772 1 8507773 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8508527 1 8508528 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8514896 1 8514897 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs117665138 1 8515512 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs17032612 1 8515769 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs80296853 1 8520108 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8524339 1 8524340 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent 1:8524447-G-A 1 8524447 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent 1:8525933-CT 1 8525933 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent exm11427 1 8526071 [T/C] NM_001042681,NM_012102 RERE,RERE EXON Missense_G373S,Missense_G373S rs4908760 1 8526142 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent exm-rs4908760 1 8526142 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8528019 1 8528020 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8541498 1 8541499 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs112580421 1 8544190 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs2092861 1 8546914 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs115136021 1 8551853 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8552219 1 8552220 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs6701803 1 8554248 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs4908501 1 8554471 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent exm2233884 1 8555123 [T/G] NM_001042681,NM_012102 RERE,RERE EXON Synonymous_T368T,Synonymous_T368T rs144929188 1 8559408 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs77833655 1 8560326 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8569500 1 8569501 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs74050216 1 8570667 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs7545384 1 8580960 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs17385829 1 8586242 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs2297867 1 8586563 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8604157 1 8604158 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8607272 1 8607273 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8608252 1 8608253 [G/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs148330467 1 8608453 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8611209 1 8611210 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8613485 1 8613486 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent exm11445 1 8616562 [T/C] NM_001042681,NM_012102 RERE,RERE EXON Missense_V233I,Missense_V233I rs35370789 1 8623578 [G/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs114848919 1 8627421 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs74050235 1 8629058 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs1150395 1 8632599 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs75332632 1 8635335 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8643496 1 8643497 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8644856 1 8644857 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs11121203 1 8648240 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs6677196 1 8649642 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs41278974 1 8650930 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs146477311 1 8657565 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs117345876 1 8657891 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8662689 1 8662690 [C/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8664731 1 8664732 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8665830 1 8665831 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8666547 1 8666548 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs76217715 1 8669942 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs138601087 1 8670166 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent 1:8674675-GA 1 8674675 [A/G] NM_001042681,NM_012102 RERE,RERE EXON Missense_P156L,Missense_P156L 1:8680175-C-A 1 8680175 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent 1:8683236-C-T 1 8683236 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8687711 1 8687712 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs78681787 1 8688754 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs144998132 1 8691566 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs139278384 1 8699810 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs79065423 1 8700242 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs6577513 1 8702753 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8703752 1 8703753 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8710006 1 8710007 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs72855869 1 8710155 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8713774 1 8713775 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent exm11462 1 8716118 [A/G] NM_001042681,NM_012102 RERE,RERE EXON Missense_P80L,Missense_P80L 1:8716142-GA 1 8716142 [A/G] NM_001042681,NM_012102 RERE,RERE EXON Missense_T72M,Missense_T72M 1:8716306-T-TCGGTCC 1 8716306 [D/I] NM_001042681,NM_012102 RERE,RERE EXON Variant12311 1 8716322 [I/D] NM_001042681,NM_012102 RERE,RERE EXON JHU_1.8717381 1 8717382 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8750753 1 8750754 [C/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs6658881 1 8751268 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8751715 1 8751716 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs114762723 1 8758599 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent exm-rs12025126 1 8759554 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8761404 1 8761405 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8764083 1 8764084 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs10864363 1 8767311 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs17032760 1 8779019 [T/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs192899404 1 8788125 [C/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs12567592 1 8788907 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8796929 1 8796930 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8799810 1 8799811 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs143194523 1 8802450 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8804379 1 8804380 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs17383360 1 8804443 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8819895 1 8819896 [A/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs7513880 1 8839300 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent 1:8851163-C-G 1 8851163 [C/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs372134024 1 8852576 [T/C] NM_001042681,NM_012102 RERE,RERE EXON Silent,Silent JHU_1.8853240 1 8853241 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs74918616 1 8864486 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8864485 1 8864486 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs12137865 1 8868406 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent rs7546225 1 8871965 [T/C] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8875901 1 8875902 [A/G] NM_001042681,NM_012102 RERE,RERE Silent,Silent JHU_1.8877972 1 8877973 [C/G] JHU_1.8880315 1 8880316 [T/C] rs6695310 1 8891125 [T/C] rs11121242 1 8906301 [A/G] rs77128874 1 8906743 [T/A] JHU_1.8908752 1 8908753 [A/G] rs12135416 1 8910347 [A/G] rs10864368 1 8918313 [T/C] rs11121247 1 8918795 [T/C] JHU_1.8921293 1 8921294 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Silent,Silent,Silent variant.631 1 8922983 [A/G] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Nonsense_R400X,Nonsense_R307X,Nonsense_R400X 1:8923272-AAGG-A 1 8923272 [D/I] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 rs150781341 1 8923356 [A/G] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_R372C,Missense_R279C,Missense_R372C exm11492 1 8923356 [A/G] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_R372C,Missense_R279C,Missense_R372C exm11493 1 8923382 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_N363S,Missense_N270S,Missense_N363S exm2253582 1 8924042 [T/G] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Synonymous_P325P,Synonymous_P232P,Synonymous_P325P exm11509 1 8925482 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_G243S,Missense_G150S,Missense_G243S exm11510 1 8925485 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_I242V,Missense_I149V,Missense_I242V rs2781065 1 8926752 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 Silent,Silent,Silent rs2781064 1 8926868 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 Silent,Silent,Silent 1:8927238-AC-A 1 8927238 [D/I] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON exm11527 1 8927268 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_V118I,Missense_V25I,Missense_V118I 1:8930530-GA 1 8930530 [A/G] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_A74V,Silent,Silent exm11535 1 8930542 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_N70S,Silent,Silent rs3737148 1 8930941 [A/G] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Silent,Silent,Synonymous_G61G rs2274971 1 8931149 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Silent,Silent,Silent exm11539 1 8931964 [T/C] NM_001428,NM_001201483,NM_001353346 ENO1,ENO1,ENO1 EXON Missense_R56H,Silent,Missense_R56H JHU_1.8940665 1 8940666 [A/T] rs10218541 1 8952029 [T/C] rs12034719 1 8960153 [A/G] JHU_1.8963150 1 8963151 [T/C] JHU_1.8968053 1 8968054 [A/G] rs7534552 1 8969219 [A/G] JHU_1.8971273 1 8971274 [T/C] rs6665631 1 8978514 [A/G] JHU_1.8979306 1 8979307 [T/A] JHU_1.8981016 1 8981017 [A/T] rs12137125 1 8982305 [G/C] rs11805233 1 8983768 [T/C] JHU_1.8985528 1 8985529 [A/G] JHU_1.8985949 1 8985950 [T/C] JHU_1.8985987 1 8985988 [A/G] JHU_1.8986047 1 8986048 [T/C] JHU_1.8986123 1 8986124 [A/C] JHU_1.8986175 1 8986176 [T/C] JHU_1.8986229 1 8986230 [T/C] JHU_1.8986411 1 8986412 [T/C] JHU_1.8986681 1 8986682 [T/G] rs2765512 1 8987259 [T/C] JHU_1.8987339 1 8987340 [T/G] rs57081602 1 8987340 [T/G] rs2765513 1 8987597 [T/C] JHU_1.8988535 1 8988536 [A/G] rs4609454 1 8991141 [A/G] rs9434652 1 8991873 [T/C] rs914997 1 8998059 [T/C] rs2781086 1 8998613 [A/C] JHU_1.8999141 1 8999142 [T/G] rs12091891 1 9000220 [A/G] rs6692694 1 9000882 [T/C] rs116775713 1 9002569 [A/C] JHU_1.9003453 1 9003454 [A/G] rs11801889 1 9005075 [T/C] rs72641546 1 9005310 [T/C] JHU_1.9006863 1 9006864 [T/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs2274326 1 9009214 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent exm11548 1 9009352 [A/T] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_Q37L,Missense_Q37L exm11550 1 9009377 [G/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_Q45H,Missense_Q45H exm11552 1 9009406 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_T55M,Missense_T55M rs2274327 1 9009406 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_T55M,Missense_T55M exm11553 1 9009414 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_R58W,Missense_R58W rs2274328 1 9009444 [A/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_M68L,Missense_M68L exm11555 1 9009444 [A/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_M68L,Missense_M68L rs2274329 1 9009451 [G/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_G70A,Missense_G70A rs113523347 1 9009712 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs17032907 1 9010405 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs17032909 1 9010592 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent 1:9011496-CA 1 9011496 [A/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent 1:9011518-CT 1 9011518 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent 1:9011571-CT 1 9011571 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent 1:9011610-GA 1 9011610 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs3765966 1 9011722 [T/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent 1:9011762-AGG-A 1 9011762 [D/I] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 JHU_1.9015549 1 9015550 [C/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent JHU_1.9015574 1 9015575 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent JHU_1.9015674 1 9015675 [C/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent JHU_1.9015953 1 9015954 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs2274332 1 9017091 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs2274333 1 9017204 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Missense_S30G,Silent,Missense_S90G,Missense_S90G chr1_9017226 1 9017226 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Missense_M37T,Silent,Missense_M97T,Missense_M97T 1:9017282-AG-A 1 9017282 [D/I] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON 1:9017318-GA 1 9017318 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Missense_V68M,Silent,Missense_V128M,Missense_V128M rs12061974 1 9018931 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent JHU_1.9021190 1 9021191 [C/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent 1:9022709-TC 1 9022709 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Missense_Y129H,Missense_Y61H,Missense_Y189H,Missense_Y189H rs12063791 1 9024217 [T/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent JHU_1.9024216 1 9024217 [T/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs12126080 1 9026751 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs111277904 1 9027174 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs78726732 1 9029539 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent exm11605 1 9030959 [A/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Missense_R195S,Missense_R127S,Missense_R255S,Missense_R255S exm2253595 1 9030964 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Synonymous_N196N,Synonymous_N128N,Synonymous_N256N,Synonymous_N256N exm11606 1 9030964 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Synonymous_N196N,Synonymous_N128N,Synonymous_N256N,Synonymous_N256N exm11608 1 9031032 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Missense_P219L,Missense_P151L,Missense_P279L,Missense_P279L 1:9034417-GA 1 9034417 [A/G] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_G286R,Silent 1:9034468-CT 1 9034468 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Missense_R303C,Silent JHU_1.9034482 1 9034483 [T/C] NM_001270501,NM_001270502,NM_001270500,NM_001215 CA6,CA6,CA6,CA6 EXON Silent,Silent,Synonymous_L308L,Silent rs3765963 1 9034598 [A/G] NM_001270501,NM_001270502,NM_001215 CA6,CA6,CA6 Silent,Silent,Silent 1:9034686-AG 1 9034686 [A/G] NM_001270501,NM_001270502,NM_001215 CA6,CA6,CA6 EXON Missense_T224A,Missense_T156A,Missense_T284A exm11617 1 9034717 [A/G] NM_001270501,NM_001270502,NM_001215 CA6,CA6,CA6 EXON Missense_H234R,Missense_H166R,Missense_H294R rs72641583 1 9034966 [A/C] NM_001270501,NM_001270502,NM_001215 CA6,CA6,CA6 EXON Silent,Silent,Silent rs12071119 1 9035315 [A/G] JHU_1.9036937 1 9036938 [T/C] JHU_1.9038423 1 9038424 [T/C] rs6577546 1 9039022 [A/G] rs7513804 1 9045124 [T/C] rs875148 1 9049032 [T/G] rs72641597 1 9051274 [A/T] JHU_1.9053993 1 9053994 [A/G] JHU_1.9054048 1 9054049 [A/T] rs11121289 1 9054049 [A/T] rs7532691 1 9056769 [T/C] rs4908803 1 9060170 [A/G] rs17033008 1 9060789 [A/G] rs12047015 1 9061382 [T/C] exm11626 1 9063478 [A/T] NM_207420 SLC2A7 EXON Missense_F474I exm11627 1 9063490 [T/G] NM_207420 SLC2A7 EXON Missense_K470Q exm11629 1 9063541 [T/C] NM_207420 SLC2A7 EXON Missense_G453R exm11630 1 9063578 [T/C] NM_207420 SLC2A7 Silent rs4908804 1 9063602 [C/G] NM_207420 SLC2A7 Silent 1:9064812-CTGGA-C 1 9064812 [I/D] NM_207420 SLC2A7 EXON exm1918906 1 9064836 [A/G] NM_207420 SLC2A7 EXON Missense_I432T 1:9067377-AG 1 9067377 [A/G] NM_207420 SLC2A7 EXON Missense_I395T exm1918915 1 9067387 [C/G] NM_207420 SLC2A7 EXON Missense_G392R exm11649 1 9067417 [T/C] NM_207420 SLC2A7 EXON Missense_G382S exm11651 1 9067432 [T/C] NM_207420 SLC2A7 EXON Missense_E377K JHU_1.9068052 1 9068053 [A/G] NM_207420 SLC2A7 Silent JHU_1.9068132 1 9068133 [T/C] NM_207420 SLC2A7 Silent JHU_1.9068212 1 9068213 [T/C] NM_207420 SLC2A7 Silent exm2260823 1 9068386 [A/G] NM_207420 SLC2A7 Silent rs66463959 1 9069412 [A/G] NM_207420 SLC2A7 Silent rs752845 1 9070332 [T/C] NM_207420 SLC2A7 Silent rs56193987 1 9070831 [A/G] NM_207420 SLC2A7 Silent exm11665 1 9073591 [T/A] NM_207420 SLC2A7 EXON Missense_I336N 1:9073600-AC 1 9073600 [A/C] NM_207420 SLC2A7 EXON Missense_V333G exm1918925 1 9073675 [T/G] NM_207420 SLC2A7 EXON Missense_T308N 1:9073687-TC 1 9073687 [T/C] NM_207420 SLC2A7 EXON Missense_Y304C rs7537425 1 9073801 [T/C] NM_207420 SLC2A7 Silent 1:9074768-GA 1 9074768 [A/G] NM_207420 SLC2A7 EXON Missense_A292V 1:9074796-GA 1 9074796 [A/G] NM_207420 SLC2A7 EXON Nonsense_Q283X 1:9074804-AG 1 9074804 [A/G] NM_207420 SLC2A7 EXON Missense_L280P 1:9074811-GA 1 9074811 [A/G] NM_207420 SLC2A7 EXON Missense_R278W 1:9074819-CA 1 9074819 [A/C] NM_207420 SLC2A7 EXON Missense_C275F exm11686 1 9074861 [T/C] NM_207420 SLC2A7 EXON Missense_R261Q 1:9074870-GA 1 9074870 [A/G] NM_207420 SLC2A7 EXON Missense_A258V 1:9074874-GA 1 9074874 [A/G] NM_207420 SLC2A7 EXON Missense_R257C exm11692 1 9074903 [A/G] NM_207420 SLC2A7 EXON Missense_T247M exm11697 1 9075188 [T/C] NM_207420 SLC2A7 EXON Missense_T235A exm11699 1 9075221 [A/G] NM_207420 SLC2A7 EXON Missense_R224C JHU_1.9078110 1 9078111 [T/C] NM_207420 SLC2A7 Silent rs146713019 1 9078276 [A/G] NM_207420 SLC2A7 Silent 1:9078362-GA 1 9078362 [A/G] NM_207420 SLC2A7 EXON Missense_T170I exm11706 1 9079301 [T/C] NM_207420 SLC2A7 EXON Missense_V135I exm1918946 1 9079319 [A/T] NM_207420 SLC2A7 EXON Nonsense_K129X exm11707 1 9079349 [T/C] NM_207420 SLC2A7 EXON Missense_A119T 1:9079394-TC 1 9079394 [T/C] NM_207420 SLC2A7 Silent JHU_1.9080733 1 9080734 [T/C] NM_207420 SLC2A7 Silent rs707469 1 9082173 [A/G] NM_207420 SLC2A7 Silent Variant37661 1 9082982 [A/G] NM_207420 SLC2A7 EXON Synonymous_C102C 1:9083005-CT 1 9083005 [T/C] NM_207420 SLC2A7 EXON Missense_V95M 1:9083031-AG 1 9083031 [A/G] NM_207420 SLC2A7 EXON Missense_L86P exm11716 1 9083094 [T/G] NM_207420 SLC2A7 EXON Missense_A65E exm11717 1 9083100 [T/C] NM_207420 SLC2A7 EXON Missense_R63Q newrs148511942 1 9083101 [A/G] NM_207420 SLC2A7 EXON Nonsense_R63X exm11721 1 9083112 [T/G] NM_207420 SLC2A7 EXON Missense_T59N JHU_1.9083896 1 9083897 [T/C] NM_207420 SLC2A7 Silent Variant37662 1 9085041 [T/C] NM_207420 SLC2A7 EXON Synonymous_P48P 1:9085108-GT 1 9085108 [T/G] NM_207420 SLC2A7 EXON Missense_A26E rs115393305 1 9085724 [G/C] NM_207420 SLC2A7 Silent JHU_1.9085826 1 9085827 [T/C] NM_207420 SLC2A7 Silent exm11731 1 9086388 [A/G] NM_207420 SLC2A7 EXON Missense_A6V rs2485196 1 9087728 [A/G] JHU_1.9088415 1 9088416 [T/C] rs61785791 1 9093704 [C/G] JHU_1.9093914 1 9093915 [A/G] JHU_1.9094590 1 9094591 [A/G] 1:9095494-G-A 1 9095494 [A/G] rs5840 1 9097241 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent kgp9153910 1 9097251 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent exm2233960 1 9097656 [T/A] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_S499T,Missense_S455T,Missense_S499T,Missense_S352T exm11736 1 9097696 [G/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Nonsense_Y485X,Nonsense_Y441X,Nonsense_Y485X,Nonsense_Y338X 1:9097698-AG 1 9097698 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_Y485H,Missense_Y441H,Missense_Y485H,Missense_Y338H exm11746 1 9097812 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_V447M,Missense_V403M,Missense_V447M,Missense_V300M exm11750 1 9097966 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_P431L,Missense_P387L,Missense_P431L,Missense_P284L exm11752 1 9097982 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_V426M,Missense_V382M,Missense_V426M,Missense_V279M exm11759 1 9098072 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_A396T,Missense_A352T,Missense_A396T,Missense_A249T ilmnseq_1:9098181 1 9098181 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent rs875996 1 9098230 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent ilmnseq_1:9098433 1 9098433 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent exm11763 1 9098532 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_V378I,Missense_V334I,Missense_V378I,Missense_V231I chr1_9098541 1 9098541 [T/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_I375L,Missense_I331L,Missense_I375L,Missense_I228L 1:9099613-CA 1 9099613 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_A332S,Missense_A288S,Missense_A332S,Missense_A185S 1:9099614-GT 1 9099614 [T/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Nonsense_C331X,Nonsense_C287X,Nonsense_C331X,Nonsense_C184X exm11769 1 9099643 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_G322R,Missense_G278R,Missense_G322R,Missense_G175R 1:9099671-CA 1 9099671 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_E312D,Missense_E268D,Missense_E312D,Missense_E165D exm11777 1 9099926 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_S273L,Missense_S229L,Missense_S273L,Missense_S126L exm11780 1 9099966 [G/C] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_A260P,Missense_A216P,Missense_A260P,Missense_A113P rs1060998 1 9100479 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621 SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent kgp25202805 1 9101641 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Silent 1:9101682-AG 1 9101682 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Missense_X245Q exm11788 1 9101709 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Missense_G236R exm11789 1 9101712 [A/T] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Missense_L235M exm11794 1 9101826 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Missense_R197W exm11797 1 9101867 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_R183Q,Missense_R139Q,Missense_R183Q,Missense_R36Q,Missense_R183Q 1:9101928-CT 1 9101928 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_G163R,Missense_G119R,Missense_G163R,Missense_G16R,Missense_G163R ilmnseq_1:9102447_ilmndup1 1 9102447 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent ilmnseq_1:9102447 1 9102447 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs55909245 1 9102889 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent JHU_1.9102980 1 9102981 [T/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs140126411 1 9106021 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent JHU_1.9107007 1 9107008 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent 1:9107686-AG 1 9107686 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_L134S,Missense_L90S,Missense_L134S,Silent,Missense_L134S exm11814 1 9107759 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_I110V,Missense_I66V,Missense_I110V,Silent,Missense_I110V JHU_1.9110831 1 9110832 [A/T] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent ilmnseq_1:9110832 1 9110832 [A/T] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs3004245 1 9111626 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent ilmnseq_1:9112784 1 9112784 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs7521322 1 9114091 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs2505972 1 9116899 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent 1:9117519-AT-A 1 9117519 [I/D] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON rs13306771 1 9117577 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_V75M,Missense_V31M,Missense_V75M,Silent,Missense_V75M kgp15820906 1 9117596 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Synonymous_T68T,Synonymous_T24T,Synonymous_T68T,Silent,Synonymous_T68T ilmnseq_1:9117947 1 9117947 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent JHU_1.9117947 1 9117948 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent 1:9118238-GA 1 9118238 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Synonymous_N35N,Missense_T4M,Synonymous_N35N,Silent,Synonymous_N35N exm1921670 1 9118247 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Nonsense_Y32X,Missense_M1R,Nonsense_Y32X,Silent,Nonsense_Y32X exm11822 1 9118297 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_V16M,Silent,Missense_V16M,Silent,Missense_V16M exm11823 1 9118300 [C/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Missense_L15V,Silent,Missense_L15V,Silent,Missense_L15V rs17842190 1 9118423 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs12145292 1 9118596 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs75739730 1 9119017 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent JHU_1.9120040 1 9120041 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent ilmnseq_1:9121169 1 9121169 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent JHU_1.9121425 1 9121426 [C/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs765617 1 9121782 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent JHU_1.9122381 1 9122382 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent ilmnseq_1:9124805 1 9124805 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs2478869 1 9127159 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent JHU_1.9127600 1 9127601 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent rs76870406 1 9127905 [A/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 Silent,Silent,Silent,Silent,Silent kgp4856177 1 9129620 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Silent kgp15436943 1 9129791 [T/C] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Silent rs3820034 1 9129867 [A/G] NM_003039,NM_001328620,NM_001328619,NM_001328621,NM_001135585 SLC2A5,SLC2A5,SLC2A5,SLC2A5,SLC2A5 EXON Silent,Silent,Silent,Silent,Silent rs770041 1 9129945 [A/G] NM_001328619 SLC2A5 Silent rs76502195 1 9131980 [A/G] NM_001328619 SLC2A5 Silent JHU_1.9133404 1 9133405 [A/C] rs191990815 1 9133830 [T/A] rs77753620 1 9133868 [T/C] JHU_1.9134159 1 9134160 [A/T] rs77917183 1 9134607 [A/C] rs117964643 1 9135256 [T/C] rs75350835 1 9135330 [T/C] JHU_1.9135368 1 9135369 [T/C] JHU_1.9136403 1 9136404 [A/G] rs12726360 1 9140078 [T/C] rs12127491 1 9140327 [T/C] rs58634632 1 9142656 [T/C] JHU_1.9144213 1 9144214 [A/T] rs12751466 1 9147856 [T/C] JHU_1.9148332 1 9148333 [A/T] rs112892319 1 9149604 [A/G] rs79438229 1 9151482 [A/G] JHU_1.9152073 1 9152074 [A/G] rs116896148 1 9153309 [A/G] rs12061999 1 9153629 [T/C] rs12239636 1 9155701 [T/C] rs12239637 1 9155711 [T/C] rs729829 1 9158997 [T/C] rs17033261 1 9159671 [T/C] rs7555576 1 9160365 [A/G] rs145499840 1 9160568 [T/C] JHU_1.9162489 1 9162490 [A/G] rs61785816 1 9162830 [A/G] rs3737669 1 9164133 [A/G] 1:9164542-GA 1 9164542 [A/G] NM_024980 GPR157 EXON Missense_A315V 1:9164566-GA 1 9164566 [A/G] NM_024980 GPR157 EXON Missense_P307L exm11839 1 9164626 [T/C] NM_024980 GPR157 EXON Missense_R287Q chr1_9164644 1 9164644 [A/G] NM_024980 GPR157 EXON Missense_L281P 1:9164687-CA 1 9164687 [A/C] NM_024980 GPR157 EXON Missense_G267W 1:9164694-CT 1 9164694 [T/C] NM_024980 GPR157 Silent exm11852 1 9165564 [A/G] NM_024980 GPR157 EXON Missense_P258L 1:9165574-CT 1 9165574 [T/C] NM_024980 GPR157 EXON Missense_V255M exm1925702 1 9165579 [A/G] NM_024980 GPR157 EXON Missense_P253L 1:9165669-GA 1 9165669 [A/G] NM_024980 GPR157 EXON Missense_A223V exm11865 1 9165685 [A/G] NM_024980 GPR157 EXON Missense_R218C exm11870 1 9165726 [C/G] NM_024980 GPR157 EXON Missense_S204C 1:9170878-G-A 1 9170878 [A/G] NM_024980 GPR157 Silent JHU_1.9171163 1 9171164 [T/C] NM_024980 GPR157 Silent 1:9171238-GT 1 9171238 [T/G] NM_024980 GPR157 Silent 1:9171295-GA 1 9171295 [A/G] NM_024980 GPR157 Silent exm11874 1 9171336 [A/G] NM_024980 GPR157 EXON Missense_A199V exm2233969 1 9171355 [A/G] NM_024980 GPR157 EXON Missense_R193W 1:9171454-CT 1 9171454 [T/C] NM_024980 GPR157 EXON Missense_D160N JHU_1.9176435 1 9176436 [A/T] NM_024980 GPR157 Silent JHU_1.9179467 1 9179468 [T/C] NM_024980 GPR157 Silent rs2505976 1 9179468 [T/C] NM_024980 GPR157 Silent rs6657535 1 9180359 [A/C] NM_024980 GPR157 Silent rs78794533 1 9180726 [A/G] NM_024980 GPR157 Silent rs10864390 1 9182914 [T/C] NM_024980 GPR157 Silent rs4908812 1 9185660 [A/G] NM_024980 GPR157 Silent JHU_1.9188517 1 9188518 [A/G] NM_024980 GPR157 Silent 1:9188785-GT 1 9188785 [T/G] NM_024980 GPR157 EXON Missense_A101E rs12726928 1 9190254 [A/C] JHU_1.9192378 1 9192379 [T/C] JHU_1.9195408 1 9195409 [T/C] JHU_1.9201454 1 9201455 [A/G] rs4406655 1 9205179 [A/G] rs117118345 1 9205344 [T/C] 1:9205673-A-G 1 9205673 [A/G] rs4908813 1 9206357 [T/C] JHU_1.9207548 1 9207549 [T/A] rs17393144 1 9210262 [A/G] NR_132742 MIR34AHG EXON Silent rs12128240 1 9211303 [T/C] NR_132742 MIR34AHG EXON Silent JHU_1.9211467 1 9211468 [T/C] NR_132742 MIR34AHG EXON Silent 1:9211896-TC 1 9211896 [T/C] NR_132742 MIR34AHG Silent rs17390969 1 9213962 [A/G] NR_132742 MIR34AHG Silent rs188566144 1 9217467 [A/G] NR_132742 MIR34AHG Silent JHU_1.9218772 1 9218773 [A/G] NR_132742 MIR34AHG Silent rs6577556 1 9219383 [T/C] NR_132742 MIR34AHG Silent rs797256 1 9219466 [T/G] NR_132742 MIR34AHG Silent JHU_1.9222041 1 9222042 [A/G] NR_132742 MIR34AHG Silent JHU_1.9223623 1 9223624 [A/C] NR_132742 MIR34AHG Silent rs2516091 1 9225184 [A/G] NR_132742 MIR34AHG Silent JHU_1.9228583 1 9228584 [C/G] NR_132742 MIR34AHG Silent rs61787666 1 9235117 [T/A] NR_132742 MIR34AHG Silent rs78411081 1 9236812 [A/G] NR_132742 MIR34AHG Silent rs797263 1 9238553 [T/C] NR_132742 MIR34AHG Silent rs4908817 1 9245572 [T/G] NR_132738 LNCTAM34A Silent rs75108068 1 9246737 [A/G] NR_132738 LNCTAM34A Silent JHU_1.9247911 1 9247912 [T/A] NR_132738 LNCTAM34A Silent rs10864392 1 9250991 [T/C] NR_132738 LNCTAM34A Silent JHU_1.9252540 1 9252541 [A/G] rs79942320 1 9254456 [A/G] rs4908823 1 9256200 [A/G] rs12727775 1 9259100 [A/G] JHU_1.9263100 1 9263101 [A/G] rs2032540 1 9269638 [A/G] rs185178962 1 9271749 [C/G] JHU_1.9272529 1 9272530 [A/T] rs9659625 1 9272879 [T/C] JHU_1.9273248 1 9273249 [A/G] JHU_1.9273253 1 9273254 [A/G] rs6577561 1 9274446 [T/C] rs1009941 1 9275194 [A/G] JHU_1.9278270 1 9278271 [T/G] rs72867271 1 9282862 [T/C] rs1294012 1 9285181 [T/C] rs10489436 1 9285721 [A/G] JHU_1.9289086 1 9289087 [A/G] rs9434723 1 9292282 [A/G] rs1294011 1 9300568 [T/G] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent rs2268175 1 9300608 [T/C] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent rs117507442 1 9302945 [T/C] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent exm-rs2239560 1 9304731 [A/G] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent Variant12312 1 9304979 [D/I] NM_004285,NM_001282587 H6PD,H6PD 1:9305024-TG 1 9305024 [T/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_L11V,Missense_L22V 1:9305124-A-AG 1 9305124 [D/I] NM_004285,NM_001282587 H6PD,H6PD EXON 1:9305154-CT 1 9305154 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A54V,Missense_A65V 1:9305235-TC 1 9305235 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_L81P,Missense_L92P exm2275418 1 9305309 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_S106G,Missense_S117G Variant15863 1 9305317 [D/I] NM_004285,NM_001282587 H6PD,H6PD EXON 1:9305366-GA 1 9305366 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_E125K,Missense_E136K 1:9305383-CA 1 9305383 [A/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_H130Q,Missense_H141Q exm11924 1 9305393 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R134W,Missense_R145W exm11925 1 9305415 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_Y141C,Missense_Y152C rs200279587 1 9305435 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A148T,Missense_A159T exm11932 1 9305532 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_H180R,Missense_H191R rs143104068 1 9307032 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A212V,Missense_A223V rs7524046 1 9307033 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Synonymous_A212A,Synonymous_A223A 1:9307050-GA 1 9307050 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R218Q,Missense_R229Q rs35525021 1 9307050 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R218Q,Missense_R229Q exm11941 1 9307061 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R222C,Missense_R233C exm11943 1 9307076 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G227S,Missense_G238S exm11944 1 9307089 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R231Q,Missense_R242Q exm11945 1 9307103 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R236W,Missense_R247W rs12032814 1 9307230 [T/A] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent JHU_1.9307897 1 9307898 [C/G] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent JHU_1.9310671 1 9310672 [T/C] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent JHU_1.9311497 1 9311498 [T/C] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent rs74783319 1 9314589 [A/G] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent rs61785090 1 9314827 [A/G] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent rs6662509 1 9317604 [T/C] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent JHU_1.9318288 1 9318289 [T/C] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent JHU_1.9318777 1 9318778 [A/G] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent exm11951 1 9322120 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R250C,Missense_R261C exm11954 1 9322153 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R261C,Missense_R272C 1:9322186-CT 1 9322186 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_L272F,Missense_L283F 1:9322243-CT 1 9322243 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R291W,Missense_R302W exm11966 1 9322268 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A299V,Missense_A310V exm11967 1 9322274 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R301Q,Missense_R312Q exm11968 1 9322289 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G306D,Missense_G317D 1:9322320-C-G 1 9322320 [C/G] NM_004285,NM_001282587 H6PD,H6PD EXON Nonsense_Y316X,Nonsense_Y327X 1:9322332-G-A 1 9322332 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Synonymous_V320V,Synonymous_V331V exm1931537 1 9322334 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R321H,Missense_R332H exm11976 1 9322373 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_T334M,Missense_T345M JHU_1.9322900 1 9322901 [T/C] NM_004285,NM_001282587 H6PD,H6PD Silent,Silent 1:9323589-AG 1 9323589 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_N346S,Missense_N357S 1:9323606-GA 1 9323606 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_V352M,Missense_V363M rs199782560 1 9323606 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_V352M,Missense_V363M seq-rs387907167 1 9323628 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G359D,Missense_G370D 1:9323628-G-A 1 9323628 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G359D,Missense_G370D exm11988 1 9323657 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A369T,Missense_A380T exm11992 1 9323715 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A388V,Missense_A399V exm11995 1 9323730 [T/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_C393F,Missense_C404F exm11996 1 9323739 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R396Q,Missense_R407Q 1:9323747-GA 1 9323747 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_V399I,Missense_V410I 1:9323750-TC 1 9323750 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_F400L,Missense_F411L 1:9323768-GA 1 9323768 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_D406N,Missense_D417N 1:9323786-GA 1 9323786 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_V412M,Missense_V423M rs201017402 1 9323786 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_V412M,Missense_V423M chr1_9323807 1 9323807 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_F419L,Missense_F430L exm12005 1 9323862 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R437H,Missense_R448H exm12008 1 9323885 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_D445N,Missense_D456N exm12010 1 9323894 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A448T,Missense_A459T exm12011 1 9323895 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A448V,Missense_A459V exm12013 1 9323916 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R455Q,Missense_R466Q exm12015 1 9323921 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A457T,Missense_A468T exm12016 1 9323930 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_V460I,Missense_V471I 1:9323954-GA 1 9323954 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G468S,Missense_G479S exm12021 1 9323958 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R469Q,Missense_R480Q exm12023 1 9324002 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_N484D,Missense_N495D 1:9324048-GA 1 9324048 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R499H,Missense_R510H exm1931546 1 9324075 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G508D,Missense_G519D exm12031 1 9324078 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R509H,Missense_R520H exm12034 1 9324104 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G518S,Missense_G529S exm12035 1 9324107 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R519W,Missense_R530W exm12036 1 9324108 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R519Q,Missense_R530Q exm12046 1 9324213 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_P554L,Missense_P565L exm12048 1 9324233 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_E561K,Missense_E572K exm12052 1 9324275 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A575T,Missense_A586T exm12054 1 9324282 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R577Q,Missense_R588Q exm12056 1 9324294 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R581H,Missense_R592H exm12057 1 9324300 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G583D,Missense_G594D exm12065 1 9324385 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Nonsense_W611X,Nonsense_W622X 1:9324393-CT 1 9324393 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_T614M,Missense_T625M 1:9324417-GA 1 9324417 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R622H,Missense_R633H rs145918056 1 9324433 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Synonymous_S627S,Synonymous_S638S 1:9324482-GA 1 9324482 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_V644I,Missense_V655I 1:9324485-CT 1 9324485 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R645W,Missense_R656W rs201573656 1 9324486 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R645Q,Missense_R656Q exm12083 1 9324542 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_A664T,Missense_A675T 1:9324602-AG 1 9324602 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_S684G,Missense_S695G exm12096 1 9324684 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_D711G,Missense_D722G exm12101 1 9324716 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_P722S,Missense_P733S rs144508545 1 9324716 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_P722S,Missense_P733S 1:9324719-TC 1 9324719 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_S723P,Missense_S734P 1:9324734-CT 1 9324734 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R728C,Missense_R739C 1:9324798-GA 1 9324798 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R749K,Missense_R760K exm12109 1 9324807 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_R752H,Missense_R763H 1:9324814-TCAC-T 1 9324814 [D/I] NM_004285,NM_001282587 H6PD,H6PD EXON exm1931555 1 9324819 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_T756M,Missense_T767M exm12112 1 9324876 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_P775L,Missense_P786L 1:9324885-GT 1 9324885 [T/G] NM_004285,NM_001282587 H6PD,H6PD EXON Missense_G778V,Missense_G789V rs17368633 1 9325085 [T/G] NM_004285,NM_001282587 H6PD,H6PD EXON Silent,Silent rs17033642 1 9326132 [A/C] NM_004285,NM_001282587 H6PD,H6PD EXON Silent,Silent rs11121354 1 9327413 [T/G] NM_004285,NM_001282587 H6PD,H6PD EXON Silent,Silent rs114922064 1 9327732 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Silent,Silent rs1294016 1 9328495 [T/C] NM_004285,NM_001282587 H6PD,H6PD EXON Silent,Silent rs74053634 1 9329639 [A/G] NM_004285,NM_001282587 H6PD,H6PD EXON Silent,Silent rs9435168 1 9331952 [A/G] JHU_1.9333785 1 9333786 [T/C] rs78104836 1 9334017 [A/G] JHU_1.9334016 1 9334017 [A/G] JHU_1.9334322 1 9334323 [G/C] rs12093524 1 9334714 [A/G] 1:9335587-A-G 1 9335587 [A/G] rs6688233 1 9335745 [T/C] JHU_1.9338621 1 9338622 [T/C] rs10746487 1 9338689 [T/C] rs9442580 1 9339467 [T/C] JHU_1.9340327 1 9340328 [A/G] rs4071607 1 9340328 [A/G] rs916380 1 9341038 [T/C] rs112541935 1 9342003 [A/G] rs9661151 1 9343799 [T/C] rs138960454 1 9346301 [A/C] JHU_1.9346582 1 9346583 [A/G] rs4465231 1 9347278 [A/G] rs9442571 1 9349611 [A/T] rs9726385 1 9349938 [T/C] rs72642704 1 9350092 [A/T] rs56333749 1 9354520 [A/C] NM_025106 SPSB1 Silent rs11121365 1 9357724 [C/G] NM_025106 SPSB1 Silent rs563347 1 9357960 [A/G] NM_025106 SPSB1 Silent rs621846 1 9358243 [T/C] NM_025106 SPSB1 Silent rs619928 1 9358681 [A/G] NM_025106 SPSB1 Silent rs114591949 1 9359996 [G/C] NM_025106 SPSB1 Silent rs57156794 1 9363091 [T/C] NM_025106 SPSB1 Silent rs531796 1 9366425 [T/C] NM_025106 SPSB1 Silent JHU_1.9366740 1 9366741 [T/A] NM_025106 SPSB1 Silent rs9442562 1 9367908 [A/G] NM_025106 SPSB1 Silent JHU_1.9367930 1 9367931 [G/C] NM_025106 SPSB1 Silent JHU_1.9368135 1 9368136 [T/C] NM_025106 SPSB1 Silent JHU_1.9368902 1 9368903 [A/G] NM_025106 SPSB1 Silent JHU_1.9369321 1 9369322 [A/G] NM_025106 SPSB1 Silent JHU_1.9370222 1 9370223 [A/G] NM_025106 SPSB1 Silent JHU_1.9370233 1 9370234 [A/G] NM_025106 SPSB1 Silent rs630075 1 9370911 [A/G] NM_025106 SPSB1 Silent rs75758127 1 9373876 [A/G] NM_025106 SPSB1 Silent rs9726646 1 9375309 [T/C] NM_025106 SPSB1 Silent rs59100551 1 9377039 [T/C] NM_025106 SPSB1 Silent rs926249 1 9377864 [T/C] NM_025106 SPSB1 Silent rs617901 1 9377939 [A/G] NM_025106 SPSB1 Silent rs1294046 1 9379693 [A/G] NM_025106 SPSB1 Silent rs74051621 1 9379836 [A/G] NM_025106 SPSB1 Silent rs77741734 1 9380512 [T/C] NM_025106 SPSB1 Silent JHU_1.9381035 1 9381036 [T/C] NM_025106 SPSB1 Silent rs1294055 1 9382034 [A/C] NM_025106 SPSB1 Silent JHU_1.9382744 1 9382745 [T/C] NM_025106 SPSB1 Silent rs77390888 1 9383104 [T/C] NM_025106 SPSB1 Silent JHU_1.9383103 1 9383104 [T/C] NM_025106 SPSB1 Silent JHU_1.9383326 1 9383327 [A/G] NM_025106 SPSB1 Silent rs9725969 1 9386384 [A/G] NM_025106 SPSB1 Silent rs12749844 1 9388271 [A/G] NM_025106 SPSB1 Silent rs732591 1 9389218 [T/C] NM_025106 SPSB1 Silent rs11121371 1 9392728 [A/G] NM_025106 SPSB1 Silent rs926247 1 9394008 [T/C] NM_025106 SPSB1 Silent rs12728282 1 9396935 [T/C] NM_025106 SPSB1 Silent JHU_1.9397624 1 9397625 [T/C] NM_025106 SPSB1 Silent rs72643827 1 9397865 [C/G] NM_025106 SPSB1 Silent JHU_1.9398581 1 9398582 [T/C] NM_025106 SPSB1 Silent rs2205669 1 9401282 [A/G] NM_025106 SPSB1 Silent rs733096 1 9401294 [A/G] NM_025106 SPSB1 Silent rs74051630 1 9401557 [T/C] NM_025106 SPSB1 Silent rs478103 1 9402403 [T/C] NM_025106 SPSB1 Silent JHU_1.9403424 1 9403425 [T/A] NM_025106 SPSB1 Silent rs78006041 1 9404340 [C/G] NM_025106 SPSB1 Silent JHU_1.9404692 1 9404693 [T/G] NM_025106 SPSB1 Silent rs2075972 1 9406979 [T/C] NM_025106 SPSB1 Silent rs12045744 1 9407254 [A/T] NM_025106 SPSB1 Silent rs34317170 1 9407575 [T/G] NM_025106 SPSB1 Silent rs9730431 1 9407597 [A/G] NM_025106 SPSB1 Silent rs664347 1 9407856 [T/C] NM_025106 SPSB1 Silent JHU_1.9407996 1 9407997 [T/C] NM_025106 SPSB1 Silent rs78908140 1 9408406 [C/G] NM_025106 SPSB1 Silent rs11121380 1 9408959 [A/C] NM_025106 SPSB1 Silent JHU_1.9408997 1 9408998 [A/G] NM_025106 SPSB1 Silent rs151230958 1 9409577 [T/C] NM_025106 SPSB1 Silent rs11121382 1 9411469 [C/G] NM_025106 SPSB1 Silent rs1299374 1 9412408 [A/G] NM_025106 SPSB1 Silent JHU_1.9413407 1 9413408 [A/G] NM_025106 SPSB1 Silent rs12727816 1 9414222 [A/G] NM_025106 SPSB1 Silent rs113916340 1 9415468 [T/C] NM_025106 SPSB1 Silent rs2310919 1 9415727 [A/G] NM_025106 SPSB1 Silent exm12119 1 9416003 [T/C] NM_025106 SPSB1 EXON Missense_T18M rs187638168 1 9416245 [A/G] NM_025106 SPSB1 EXON Missense_V99M rs3795309 1 9416346 [T/C] NM_025106 SPSB1 EXON Synonymous_L132L rs4908852 1 9416962 [A/G] NM_025106 SPSB1 Silent JHU_1.9417854 1 9417855 [T/C] NM_025106 SPSB1 Silent rs12065293 1 9421050 [A/T] NM_025106 SPSB1 Silent JHU_1.9424814 1 9424815 [T/C] NM_025106 SPSB1 Silent JHU_1.9425522 1 9425523 [A/G] NM_025106 SPSB1 Silent rs10864411 1 9425540 [T/C] NM_025106 SPSB1 Silent rs621655 1 9426027 [T/C] NM_025106 SPSB1 Silent exm1939653 1 9427508 [T/C] NM_025106 SPSB1 EXON Synonymous_P232P 1:9427519-CT 1 9427519 [T/C] NM_025106 SPSB1 EXON Missense_P236L 1:9427570-GA 1 9427570 [A/G] NM_025106 SPSB1 EXON Missense_R253H rs2275457 1 9427869 [A/G] NM_025106 SPSB1 EXON Silent JHU_1.9431400 1 9431401 [A/G] rs9308447 1 9432390 [T/C] rs17393334 1 9432911 [A/G] rs74051646 1 9434127 [T/C] rs11802522 1 9434137 [A/C] JHU_1.9439903 1 9439904 [T/A] rs9729149 1 9441040 [T/C] rs78504774 1 9446542 [C/G] rs2095904 1 9447371 [T/C] rs185729842 1 9453847 [T/C] JHU_1.9454242 1 9454243 [T/C] rs12086791 1 9457121 [T/C] rs6688312 1 9458793 [T/G] rs10864414 1 9460746 [C/G] JHU_1.9462448 1 9462449 [T/C] JHU_1.9462886 1 9462887 [A/C] rs7414710 1 9465155 [T/C] rs74051661 1 9465544 [T/G] rs11121406 1 9466292 [A/C] rs12044809 1 9466803 [A/G] rs115953054 1 9470937 [A/G] JHU_1.9471980 1 9471981 [C/G] 1:9477859-G-A 1 9477859 [A/G] rs143785030 1 9477882 [A/G] JHU_1.9479841 1 9479842 [A/G] rs7518670 1 9483092 [T/C] JHU_1.9485133 1 9485134 [T/G] rs6694178 1 9485434 [A/T] NR_104623,NR_104622 LOC100506022,LOC100506022 EXON Silent,Silent rs7417409 1 9485454 [T/C] NR_104623,NR_104622 LOC100506022,LOC100506022 EXON Silent,Silent 1:9487932-A-G 1 9487932 [A/G] NR_104623,NR_104622 LOC100506022,LOC100506022 Silent,Silent rs61784972 1 9489040 [A/G] NR_104622 LOC100506022 EXON Silent rs10864418 1 9489972 [A/G] rs11121412 1 9490339 [A/G] JHU_1.9493491 1 9493492 [A/G] rs149241407 1 9495270 [T/G] rs9726404 1 9495571 [T/C] rs9787285 1 9499246 [A/G] rs114218301 1 9500604 [T/C] JHU_1.9500794 1 9500795 [A/G] rs9662546 1 9501492 [A/G] JHU_1.9502652 1 9502653 [T/C] rs4926481 1 9503008 [T/C] rs61784976 1 9503472 [T/C] rs10779724 1 9504017 [A/G] rs79931130 1 9506751 [T/C] rs79200652 1 9509290 [T/C] JHU_1.9509433 1 9509434 [T/G] JHU_1.9509780 1 9509781 [A/G] rs10779726 1 9509821 [G/C] JHU_1.9511835 1 9511836 [T/C] rs79679249 1 9513234 [A/C] rs117934896 1 9514701 [T/C] rs4926491 1 9514846 [T/C] JHU_1.9516048 1 9516049 [A/G] rs116392982 1 9516961 [T/C] rs7536288 1 9517262 [A/G] rs57294471 1 9519289 [T/C] JHU_1.9522802 1 9522803 [T/C] JHU_1.9524751 1 9524752 [A/G] rs6695925 1 9526956 [A/G] rs10864425 1 9526979 [A/G] rs77550567 1 9528495 [T/G] rs114752527 1 9529335 [A/G] JHU_1.9534011 1 9534012 [A/G] JHU_1.9534154 1 9534155 [A/G] rs7418365 1 9535303 [A/G] JHU_1.9539695 1 9539696 [T/C] rs10157778 1 9542612 [A/G] rs78094526 1 9545518 [A/G] JHU_1.9554901 1 9554902 [A/G] JHU_1.9555887 1 9555888 [C/G] rs55657394 1 9560244 [T/C] rs6683731 1 9562502 [A/T] rs7550613 1 9562830 [A/G] rs7533271 1 9563315 [C/G] rs116560221 1 9563459 [A/G] rs140786905 1 9565226 [T/C] rs34451227 1 9566238 [I/D] rs12755956 1 9567789 [A/G] JHU_1.9571182 1 9571183 [T/G] rs149082027 1 9573179 [T/C] rs7525571 1 9576675 [A/G] rs76401127 1 9588852 [A/G] JHU_1.9589181 1 9589182 [A/G] rs12037667 1 9594670 [A/C] rs75303328 1 9598564 [T/C] rs59618231 1 9600204 [A/G] NM_032315 SLC25A33 Silent rs12027750 1 9602271 [T/C] NM_032315 SLC25A33 Silent rs12023288 1 9602962 [A/C] NM_032315 SLC25A33 Silent rs181338309 1 9612044 [T/C] NM_032315 SLC25A33 Silent rs140276862 1 9612134 [T/C] NM_032315 SLC25A33 Silent JHU_1.9617351 1 9617352 [T/C] NM_032315 SLC25A33 Silent JHU_1.9622042 1 9622043 [A/G] NM_032315 SLC25A33 Silent 1:9627034-T-C 1 9627034 [T/C] NM_032315 SLC25A33 Silent rs12124860 1 9627103 [A/G] NM_032315 SLC25A33 Silent 1:9630411-CT 1 9630411 [T/C] NM_032315 SLC25A33 EXON Missense_S137F JHU_1.9633195 1 9633196 [T/C] NM_032315 SLC25A33 Silent exm12183 1 9640058 [A/G] NM_032315 SLC25A33 EXON Missense_V177I exm12193 1 9640291 [T/C] NM_032315 SLC25A33 EXON Synonymous_H254H rs9430174 1 9647137 [A/G] exm12212 1 9655965 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_T44M,Missense_T44M exm12224 1 9657005 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_S108L,Missense_S108L exm12227 1 9657037 [G/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_L119V,Missense_L119V exm12231 1 9657103 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_R141C,Missense_R141C 1:9658654-CT 1 9658654 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_R193C,Missense_R193C exm12242 1 9658657 [T/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_R194W,Missense_R194W rs9430182 1 9658707 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 Silent,Silent exm12249 1 9661175 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_A207T,Missense_A207T 1:9661272-AG 1 9661272 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_H239R,Missense_H239R exm12259 1 9661332 [A/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_T259K,Missense_T259K 1:9661361-GA 1 9661361 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_E269K,Missense_E269K exm12269 1 9661454 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_V300I,Missense_V300I exm2234040 1 9661506 [A/G] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Missense_R317H,Missense_R317H JHU_1.9664753 1 9664754 [A/C] NM_001010866,NM_001130924 TMEM201,TMEM201 EXON Silent,Silent JHU_1.9668026 1 9668027 [A/G] NM_001130924 TMEM201 Silent 1:9669940-TG 1 9669940 [T/G] NM_001130924 TMEM201 EXON Missense_V479G exm12288 1 9670738 [A/C] NM_001130924 TMEM201 EXON Missense_P547H 1:9670812-CT 1 9670812 [T/C] NM_001130924 TMEM201 EXON Missense_P572S rs78212775 1 9671587 [A/G] NM_001130924 TMEM201 Silent rs114261220 1 9671715 [C/G] NM_001130924 TMEM201 Silent exm12292 1 9671823 [A/C] NM_001130924 TMEM201 EXON Missense_K593T 1:9671852-CT 1 9671852 [T/C] NM_001130924 TMEM201 EXON Missense_R603C 1:9673092-CT 1 9673092 [T/C] NM_001130924 TMEM201 EXON Missense_A651V 1:9673113-CT 1 9673113 [T/C] NM_001130924 TMEM201 EXON Missense_S658L 1:9675560-T-C 1 9675560 [T/C] JHU_1.9675737 1 9675738 [T/C] rs10779727 1 9677853 [T/C] rs4076986 1 9688512 [A/G] JHU_1.9689193 1 9689194 [A/G] JHU_1.9689791 1 9689792 [A/G] JHU_1.9690475 1 9690476 [A/G] rs9430506 1 9693988 [T/C] JHU_1.9696269 1 9696270 [A/G] rs11121465 1 9696690 [A/G] rs74051595 1 9699143 [A/G] JHU_1.9699376 1 9699377 [T/A] JHU_1.9699559 1 9699560 [T/A] rs12028233 1 9699768 [A/G] rs79423094 1 9703860 [T/C] rs4129341 1 9704925 [T/G] rs113765299 1 9706231 [A/G] rs6540985 1 9708688 [A/G] rs7518793 1 9711487 [T/C] rs4240895 1 9713386 [T/C] NM_005026,NR_027045 PIK3CD,PIK3CD-AS1 EXON Silent,Silent 1:9713850-TC 1 9713850 [T/C] NM_005026,NR_027045 PIK3CD,PIK3CD-AS1 EXON Silent,Silent variant.673 1 9713899 [A/G] NM_005026,NR_027045 PIK3CD,PIK3CD-AS1 EXON Silent,Silent 1:9713992-GA 1 9713992 [A/G] NM_005026,NR_027045 PIK3CD,PIK3CD-AS1 EXON Silent,Silent 1:9714340-CT 1 9714340 [T/C] NM_005026,NR_027045 PIK3CD,PIK3CD-AS1 EXON Silent,Silent 1:9714365-GA 1 9714365 [A/G] NM_005026,NR_027045 PIK3CD,PIK3CD-AS1 EXON Silent,Silent rs58380009 1 9720496 [T/C] NM_005026 PIK3CD Silent rs4300218 1 9725525 [A/G] NM_005026 PIK3CD Silent rs6671868 1 9729599 [A/G] NM_005026 PIK3CD Silent JHU_1.9729734 1 9729735 [T/C] NM_005026 PIK3CD Silent rs78631014 1 9732891 [G/C] NM_005026,NR_126366,NR_126367 PIK3CD,PIK3CD-AS2,PIK3CD-AS2 Silent,Silent,Silent rs11121472 1 9733221 [A/C] NM_005026,NR_126366,NR_126367 PIK3CD,PIK3CD-AS2,PIK3CD-AS2 Silent,Silent,Silent rs147173093 1 9735627 [T/C] NM_005026,NR_126366,NR_126367 PIK3CD,PIK3CD-AS2,PIK3CD-AS2 Silent,Silent,Silent JHU_1.9737934 1 9737935 [A/G] NM_005026,NR_126366,NR_126367 PIK3CD,PIK3CD-AS2,PIK3CD-AS2 Silent,Silent,Silent rs4333853 1 9741792 [A/G] NM_005026,NR_126366,NR_126367,NR_126368 PIK3CD,PIK3CD-AS2,PIK3CD-AS2,PIK3CD-AS2 Silent,Silent,Silent,Silent JHU_1.9743528 1 9743529 [A/C] NM_005026,NR_126366,NR_126367,NR_126368 PIK3CD,PIK3CD-AS2,PIK3CD-AS2,PIK3CD-AS2 Silent,Silent,Silent,Silent rs74054318 1 9743952 [T/C] NM_005026,NR_126366,NR_126367,NR_126368 PIK3CD,PIK3CD-AS2,PIK3CD-AS2,PIK3CD-AS2 Silent,Silent,Silent,Silent rs6677649 1 9746248 [A/G] NM_005026,NR_126366,NR_126367,NR_126368 PIK3CD,PIK3CD-AS2,PIK3CD-AS2,PIK3CD-AS2 Silent,Silent,Silent,Silent JHU_1.9753161 1 9753162 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent rs61785179 1 9759390 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent rs146198042 1 9763722 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent rs114393604 1 9765679 [G/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent rs76152741 1 9766954 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent JHU_1.9768940 1 9768941 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent JHU_1.9769097 1 9769098 [T/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent 1:9770543-AC 1 9770543 [A/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_E10D,Missense_E10D,Missense_E10D exm12324 1 9770571 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_V20I,Missense_V20I,Missense_V20I 1:9774659-G-A 1 9774659 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent JHU_1.9774849 1 9774850 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent exm12334 1 9775972 [A/T] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_F146I,Missense_F146I,Missense_F146I rs142285826 1 9775972 [A/T] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_F146I,Missense_F146I,Missense_F146I exm12335 1 9775985 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_A150V,Missense_A150V,Missense_A150V 1:9776054-CA 1 9776054 [A/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_P173H,Missense_P173H,Missense_P173H exm12340 1 9776134 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_E200K,Missense_E200K,Missense_E200K 1:9776528-GA 1 9776528 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_D211N,Missense_D211N,Missense_D211N exm2234051 1 9777020 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_I262V,Missense_I262V,Silent exm12354 1 9777122 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_V296I,Missense_V296I,Missense_V267I rs61755420 1 9777599 [C/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_S312C,Missense_S312C,Missense_S283C 1:9777666-C-A 1 9777666 [A/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_N334K,Missense_N334K,Missense_N305K rs148360042 1 9778611 [T/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent exm12367 1 9778804 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_V358A,Missense_V358A,Missense_V329A exm12371 1 9778839 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_V370M,Missense_V370M,Missense_V341M 1:9778870-AG 1 9778870 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_N380S,Missense_N380S,Missense_N351S rs9430220 1 9779871 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent 1:9779982-T-C 1 9779982 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_C416R,Missense_C416R,Missense_C387R 1:9780045-CT 1 9780045 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_R437C,Missense_R437C,Missense_R408C 1:9780061-GA 1 9780061 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Nonsense_W442X,Nonsense_W442X,Nonsense_W413X exm12381 1 9780196 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_T456A,Missense_T456A,Missense_T427A 1:9780224-CT 1 9780224 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_T465M,Missense_T465M,Missense_T436M 1:9780244-CT 1 9780244 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_L472F,Missense_L472F,Missense_L443F 1:9780245-TC 1 9780245 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_L472P,Missense_L472P,Missense_L443P 1:9780549-CT 1 9780549 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent 1:9780818-AG 1 9780818 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_I514V,Missense_I513V,Missense_I485V 1:9780851-G-A 1 9780851 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_E525K,Missense_E524K,Missense_E496K 1:9780920-CT 1 9780920 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_R548W,Missense_R547W,Missense_R519W exm12405 1 9781272 [C/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_G593R,Missense_G592R,Missense_G564R 1:9781605-GA 1 9781605 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_A639T,Missense_A638T,Missense_A610T 1:9782096-CA 1 9782096 [A/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_P707T,Missense_P706T,Missense_P678T exm12430 1 9782381 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_G772S,Missense_G771S,Missense_G743S rs10864435 1 9782766 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD Silent,Silent,Silent exm2254097 1 9784435 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Synonymous_H940H,Synonymous_H939H,Synonymous_H911H exm12459 1 9784870 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_G958D,Missense_G957D,Missense_G929D exm2254098 1 9784916 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Synonymous_L973L,Synonymous_L972L,Synonymous_L944L 1:9786998-AC 1 9786998 [A/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_E1010A,Missense_E1009A,Missense_E981A 1:9787030-G-A 1 9787030 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_E1021K,Missense_E1020K,Missense_E992K IlmnSeq_rs397518423 1 9787030 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Missense_E1021K,Missense_E1020K,Missense_E992K exm2254099 1 9787083 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Synonymous_V1038V,Synonymous_V1037V,Synonymous_V1009V exm12471 1 9787083 [A/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Synonymous_V1038V,Synonymous_V1037V,Synonymous_V1009V rs1135426 1 9787508 [T/C] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Silent,Silent,Silent rs1135427 1 9787840 [T/G] NM_005026,NM_001350234,NM_001350235 PIK3CD,PIK3CD,PIK3CD EXON Silent,Silent,Silent exm12484 1 9790653 [T/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_S953R,Missense_S943R,Missense_S934R exm12486 1 9790659 [C/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_E951D,Missense_E941D,Missense_E932D exm12487 1 9790660 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_E951G,Missense_E941G,Missense_E932G 1:9790687-CTCT-C 1 9790687 [I/D] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON exm12488 1 9790703 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_E937K,Missense_E927K,Missense_E918K 1:9790707-TTTCCTC-T 1 9790707 [I/D] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON 1:9790726-TTCCTCC-T 1 9790726 [D/I] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON exm12501 1 9791355 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_H886R,Missense_H876R,Missense_H867R 1:9791936-CT 1 9791936 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_A816T,Missense_A806T,Missense_A797T rs115393096 1 9793304 [G/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent 1:9793546-CT 1 9793546 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Nonsense_W780X,Nonsense_W770X,Nonsense_W761X 1:9794086-CT 1 9794086 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_R742H,Missense_R732H,Missense_R723H exm12528 1 9794087 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_R742C,Missense_R732C,Missense_R723C rs139269753 1 9794087 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_R742C,Missense_R732C,Missense_R723C exm12532 1 9794165 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_D716N,Missense_D706N,Missense_D697N JHU_1.9794646 1 9794647 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent exm2254100 1 9795058 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Synonymous_S686S,Synonymous_S676S,Synonymous_S667S 1:9795122-CT 1 9795122 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_R665Q,Missense_R655Q,Missense_R646Q exm12548 1 9795165 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_E651K,Missense_E641K,Missense_E632K exm12561 1 9795591 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_S606L,Missense_S596L,Missense_S587L exm1956722 1 9795602 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_M602I,Missense_M592I,Missense_M583I exm12573 1 9796029 [A/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_A550S,Missense_A540S,Missense_A531S exm12575 1 9796038 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_G547R,Missense_G537R,Missense_G528R exm12577 1 9796064 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_N538S,Missense_N528S,Missense_N519S rs113712524 1 9800737 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent exm12583 1 9801233 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_E480K,Missense_E470K,Missense_E480K rs139120667 1 9801233 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_E480K,Missense_E470K,Missense_E480K JHU_1.9802057 1 9802058 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs111948546 1 9803167 [C/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent exm12596 1 9804021 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_R426Q,Missense_R416Q,Missense_R426Q exm12601 1 9804055 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_R415W,Missense_R405W,Missense_R415W rs115074130 1 9804055 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_R415W,Missense_R405W,Missense_R415W exm12604 1 9804525 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_I388V,Missense_I378V,Missense_I388V exm12610 1 9804623 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_N355S,Missense_N345S,Missense_N355S rs41300106 1 9804623 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_N355S,Missense_N345S,Missense_N355S rs149058241 1 9804630 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_T353A,Missense_T343A,Missense_T353A exm12612 1 9804630 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_T353A,Missense_T343A,Missense_T353A 1:9804692-GA 1 9804692 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_A332V,Missense_A322V,Missense_A332V rs7550295 1 9804693 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_A332T,Missense_A322T,Missense_A332T exm12616 1 9804693 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_A332T,Missense_A322T,Missense_A332T rs186712596 1 9809604 [G/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_Q300H,Missense_Q290H,Missense_Q300H 1:9809657-CT 1 9809657 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_V283I,Missense_V273I,Missense_V283I rs35261177 1 9809676 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Synonymous_P276P,Synonymous_P266P,Synonymous_P276P rs11674 1 9811541 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Synonymous_V213V,Synonymous_V203V,Synonymous_V213V var_1_9811597 1 9811597 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Nonsense_Q195X,Nonsense_Q185X,Nonsense_Q195X exm12638 1 9811618 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_V188M,Missense_V178M,Missense_V188M exm12640 1 9811653 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_G176E,Missense_G166E,Missense_G176E JHU_1.9811913 1 9811914 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs114747243 1 9814302 [A/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs184337514 1 9814341 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent 1:9815280-CT 1 9815280 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_R111H,Missense_R101H,Missense_R111H exm12650 1 9815287 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_V109I,Missense_V99I,Missense_V109I rs199722695 1 9815316 [T/A] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_V99E,Missense_V89E,Missense_V99E JHU_1.9818780 1 9818781 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent JHU_1.9824163 1 9824164 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs76606485 1 9830586 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent exm12658 1 9833335 [T/A] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_F70Y,Missense_F70Y,Missense_F70Y 1:9833413-CA 1 9833413 [A/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Missense_G44V,Missense_G44V,Missense_G44V exm12665 1 9833451 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 EXON Synonymous_V31V,Synonymous_V31V,Synonymous_V31V JHU_1.9835616 1 9835617 [A/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs10746492 1 9842576 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs148057793 1 9850498 [T/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs72633887 1 9852583 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent JHU_1.9855082 1 9855083 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs12083800 1 9856826 [T/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs79398231 1 9862862 [A/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs61479984 1 9866437 [T/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs61785191 1 9871225 [A/G] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs946277 1 9875633 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs1619083 1 9881112 [T/C] NM_001009566,NM_014944,NM_001302883 CLSTN1,CLSTN1,CLSTN1 Silent,Silent,Silent rs6666296 1 9890158 [T/C] JHU_1.9896297 1 9896298 [A/G] rs59620127 1 9899176 [T/C] JHU_1.9900162 1 9900163 [T/C] JHU_1.9902232 1 9902233 [T/C] rs72855794 1 9909481 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Silent,Silent rs7539650 1 9909721 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Silent,Silent exm1958443 1 9910795 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_T76M,Missense_T76M rs2379107 1 9911291 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs1220405 1 9922245 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs2278611 1 9923101 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs12749151 1 9925381 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs7537879 1 9926020 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs144524032 1 9926252 [G/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent JHU_1.9928696 1 9928697 [A/T] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent exm12673 1 9931246 [A/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_Q62H,Missense_Q62H 1:9931262-GA 1 9931262 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_P57L,Missense_P57L 1:9931307-CT 1 9931307 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_R42H,Missense_R42H exm12680 1 9932027 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Synonymous_N32N,Synonymous_N32N exm12683 1 9932101 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_G8R,Missense_G8R indel.686 1 9932147 [I/D] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 JHU_1.9932807 1 9932808 [C/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs6541068 1 9933281 [T/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent JHU_1.9935324 1 9935325 [G/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent JHU_1.9936906 1 9936907 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs12128766 1 9937041 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent JHU_1.9946453 1 9946454 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs1220383 1 9958594 [T/A] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent JHU_1.9965036 1 9965037 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs6703867 1 9970779 [A/G] rs116043669 1 9977082 [T/C] JHU_1.9977081 1 9977082 [T/C] JHU_1.9977123 1 9977124 [A/C] rs1220390 1 9978658 [T/C] JHU_1.9984878 1 9984879 [T/C] NM_001316975 LZIC Silent JHU_1.9989149 1 9989150 [T/C] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Silent,Silent,Silent,Silent,Silent 1:9990489-CT 1 9990489 [T/C] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Silent,Missense_A202T,Missense_A181T,Missense_A181T,Nonsense_W121X exm12689 1 9991952 [A/G] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Missense_L171F,Missense_L192F,Missense_L171F,Missense_L171F,Silent exm12694 1 9992024 [G/C] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Missense_A147P,Missense_A168P,Missense_A147P,Missense_A147P,Silent rs1220398 1 9994339 [A/G] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC Silent,Silent,Silent,Silent,Silent indel.687 1 9994823 [I/D] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON exm12699 1 9994845 [T/C] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Missense_G104D,Missense_G125D,Missense_G104D,Missense_G104D,Missense_G104D JHU_1.9995118 1 9995119 [G/C] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC Silent,Silent,Silent,Silent,Silent exm1958934 1 9996684 [T/C] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Silent,Synonymous_E19E,Silent,Silent,Silent 1:10001102-G-T 1 10001102 [T/G] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC Silent,Silent,Silent,Silent,Silent 1:10002775-GA 1 10002775 [A/G] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976 LZIC,LZIC,LZIC,LZIC,LZIC EXON Silent,Missense_L7F,Silent,Silent,Silent rs1234694 1 10003320 [A/G] NM_001316975,NM_001316974,NM_032368,NM_001316973,NM_001316976,NM_001297778 LZIC,LZIC,LZIC,LZIC,LZIC,NMNAT1 EXON Silent,Silent,Silent,Silent,Silent,Silent rs12064822 1 10008191 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 Silent,Silent,Silent rs1220421 1 10008221 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 Silent,Silent,Silent JHU_1.10011519 1 10011520 [T/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 Silent,Silent,Silent rs111993862 1 10022100 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 Silent,Silent,Silent rs6683452 1 10029913 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 Silent,Silent,Silent Variant47924 1 10032132 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 EXON Missense_M1V,Missense_M1V,Missense_M1V 1:10032154-AC 1 10032154 [A/C] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 EXON Missense_E8A,Missense_E8A,Missense_E8A 1:10032156-G-A 1 10032156 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 EXON Missense_V9M,Missense_V9M,Missense_V9M rs138613460 1 10032168 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 EXON Missense_A13T,Missense_A13T,Missense_A13T Variant47926 1 10032168 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 EXON Missense_A13T,Missense_A13T,Missense_A13T seq-rs748902766 1 10032184 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 EXON Missense_N18S,Missense_N18S,Missense_N18S rs187736998 1 10035081 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 Silent,Silent,Silent Variant47927 1 10035730 [T/C] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 EXON Missense_R66W,Missense_R66W,Missense_R66W Variant47928 1 10035733 [T/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 EXON Missense_V67F,Missense_V67F,Missense_V67F Variant47929 1 10035739 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 EXON Missense_M69V,Missense_M69V,Missense_M69V Variant47930 1 10035827 [T/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 EXON Missense_V98G,Missense_V98G,Missense_V98G JHU_1.10038138 1 10038139 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 Silent,Silent,Silent rs76260946 1 10038980 [T/C] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 Silent,Silent,Silent rs192698403 1 10039516 [A/G] NM_001297778,NM_022787,NM_001297779 NMNAT1,NMNAT1,NMNAT1 Silent,Silent,Silent 1:10042370-G-T 1 10042370 [T/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_V151F,Missense_V151F seq-rs387907293 1 10042376 [G/C] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_L153V,Missense_L153V 1:10042376-C-G 1 10042376 [G/C] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_L153V,Missense_L153V variant.688 1 10042426 [A/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Nonsense_W169X,Nonsense_W169X 1:10042443-CT 1 10042443 [T/C] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_T175I,Missense_T175I exm12728 1 10042508 [A/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_I197V,Missense_I197V 1:10042629-G-T 1 10042629 [T/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_R237L,Missense_R237L Variant47939 1 10042635 [T/C] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_L239S,Missense_L239S exm12738 1 10042683 [A/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_S255N,Missense_S255N rs150726175 1 10042688 [A/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_E257K,Missense_E257K exm12742 1 10042688 [A/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_E257K,Missense_E257K 1:10042736-A-G 1 10042736 [A/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_N273D,Missense_N273D exm12743 1 10042746 [A/C] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Missense_E276A,Missense_E276A rs79529377 1 10043840 [T/G] NM_001297778,NM_022787 NMNAT1,NMNAT1 EXON Silent,Silent 1:10050243-T-C 1 10050243 [T/C] rs141204277 1 10066023 [T/C] NM_052960,NR_138250 RBP7,RBP7 Silent,Silent rs146244623 1 10066896 [A/T] NM_052960,NR_138250 RBP7,RBP7 Silent,Silent exm12751 1 10068261 [A/G] NM_052960,NR_138250 RBP7,RBP7 EXON Missense_T95A,Silent 1:10068303-CT 1 10068303 [T/C] NM_052960,NR_138250 RBP7,RBP7 EXON Missense_H109Y,Silent exm12753 1 10068312 [A/G] NM_052960,NR_138250 RBP7,RBP7 EXON Missense_E112K,Silent rs77275170 1 10070078 [A/G] NM_052960,NR_138250 RBP7,RBP7 Silent,Silent rs3003376 1 10071301 [T/C] NM_052960,NR_138250 RBP7,RBP7 Silent,Silent JHU_1.10071786 1 10071787 [T/C] NM_052960,NR_138250 RBP7,RBP7 Silent,Silent indel.691 1 10075866 [I/D] NM_052960,NR_138250 RBP7,RBP7 EXON rs7414481 1 10082421 [T/A] rs11803995 1 10094313 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs190819609 1 10096989 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent JHU_1.10098561 1 10098562 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent JHU_1.10106683 1 10106684 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs12406448 1 10106775 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs72859583 1 10108951 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 1:10117963-A-G 1 10117963 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent kgp7252079 1 10118778 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs75297997 1 10119887 [A/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs140763917 1 10120761 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs77046700 1 10124086 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs4265433 1 10125555 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 1:10132191-GA 1 10132191 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_A44T,Missense_A44T 1:10132511-GA 1 10132511 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs61782902 1 10153236 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs9430244 1 10155283 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent exm12768 1 10155522 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_V72G,Missense_V72G exm12770 1 10155596 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S97A,Missense_S97A 1:10163087-CT 1 10163087 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_R173W,Missense_R173W 1:10163120-TG 1 10163120 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S184A,Missense_S184A exm12781 1 10163148 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_E193G,Missense_E193G rs12076922 1 10165301 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 1:10165628-TC 1 10165628 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_M212T,Missense_M212T exm12789 1 10165771 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_V260M,Missense_V260M exm2273610 1 10166271 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_P276S,Silent exm12795 1 10166317 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_P291L,Silent 1:10166413-GA 1 10166413 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S323N,Silent exm12801 1 10166437 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_R331H,Silent exm12804 1 10166467 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S341F,Silent 1:10166517-AG 1 10166517 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S358G,Silent Variant12313 1 10166599 [D/I] NM_001105562,NM_006048 UBE4B,UBE4B EXON 1:10166635-CT 1 10166635 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S397F,Silent 1:10170285-A-G 1 10170285 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs75225462 1 10175982 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs140545247 1 10176994 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent exm12818 1 10177642 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_E441G,Missense_E312G exm12822 1 10179610 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_I460V,Missense_I331V JHU_1.10181037 1 10181038 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs35632014 1 10181038 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs115486679 1 10183112 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent JHU_1.10186409 1 10186410 [A/T] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent exm12835 1 10190575 [C/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_L571F,Missense_L442F exm12837 1 10190773 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_V605I,Missense_V476I exm12841 1 10190837 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_S626N,Missense_S497N 1:10190866-GA 1 10190866 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_G636R,Missense_G507R JHU_1.10193190 1 10193191 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 1:10195079-AG 1 10195079 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_M687V,Missense_M558V exm12849 1 10195185 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_N722S,Missense_N593S rs79704569 1 10199085 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs1074461 1 10203445 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent JHU_1.10203658 1 10203659 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 1:10206731-A-G 1 10206731 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent exm12861 1 10207138 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_A861T,Missense_A732T exm1690130 1 10211395 [A/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_Q901P,Missense_Q772P rs12122985 1 10215207 [C/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs76119640 1 10215291 [G/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs6659436 1 10219202 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs149678973 1 10220670 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 1:10221247-CA 1 10221247 [A/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_T1034K,Missense_T905K chr1_10221335 1 10221335 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_Q1063H,Missense_Q934H rs117794506 1 10222983 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent JHU_1.10227531 1 10227532 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs147961171 1 10228220 [C/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_Q1075H,Missense_Q946H rs75821776 1 10229125 [A/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 1:10231282-CA 1 10231282 [A/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_N1140K,Missense_N1011K rs9782879 1 10231985 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent JHU_1.10232298 1 10232299 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs72864129 1 10232434 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs9783053 1 10233756 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent JHU_1.10235434 1 10235435 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent JHU_1.10235735 1 10235736 [A/T] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs115384680 1 10235968 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs7418410 1 10236402 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 1:10238798-GT 1 10238798 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_A1208S,Missense_A1079S newrs150907063 1 10238878 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 1:10239542-AG 1 10239542 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_I1257V,Missense_I1128V exm12901 1 10239569 [C/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_P1266A,Missense_P1137A rs1046277 1 10240094 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B EXON Silent,Silent JHU_1.10245835 1 10245836 [A/G] rs76931262 1 10246691 [T/C] rs1396 1 10247143 [A/C] rs7522819 1 10249963 [T/C] rs7518857 1 10253506 [A/G] rs140011097 1 10258195 [T/C] rs61784572 1 10259917 [T/C] rs4348727 1 10265606 [A/G] rs117391752 1 10268967 [T/C] rs147528534 1 10274178 [T/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent rs78517415 1 10276373 [T/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent JHU_1.10276717 1 10276718 [T/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent exm2264799 1 10285709 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent rs17396340 1 10286176 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent JHU_1.10287091 1 10287092 [T/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent rs76992131 1 10287651 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent 1:10292445-CT 1 10292445 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_T20I,Missense_T20I rs147210357 1 10294787 [T/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent JHU_1.10296363 1 10296364 [A/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent rs17034615 1 10311877 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent rs75905740 1 10316646 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent 1:10318660-A-T 1 10318660 [T/A] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_Q98L,Missense_Q98L JHU_1.10322797 1 10322798 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent exm2230658 1 10327447 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_M147V,Missense_M147V 1:10331621-AG 1 10331621 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_K261R,Missense_K261R 1:10332362-GT 1 10332362 [T/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_V288L,Missense_V288L JHU_1.10333797 1 10333798 [A/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent rs373698346 1 10335502 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_K294R,Missense_K294R rs111560652 1 10336218 [T/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent 1:10336382-GA 1 10336382 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_G315D,Missense_G315D rs12026616 1 10339034 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent rs3748576 1 10342629 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent JHU_1.10342962 1 10342963 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent JHU_1.10343296 1 10343297 [T/A] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent rs912963 1 10348042 [T/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent 1:10351174-CA 1 10351174 [A/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_T444N,Missense_T444N rs10492972 1 10353112 [T/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent exm-rs10492972 1 10353112 [T/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent JHU_1.10354084 1 10354085 [G/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent rs201500946 1 10355147 [G/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_P486A,Missense_P486A rs151270312 1 10355353 [C/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent 1:10355750-AG 1 10355750 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_D522G,Missense_D522G exm12961 1 10355818 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_G545R,Missense_G545R exm1690377 1 10356960 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_R577C,Missense_R577C rs150271500 1 10356960 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_R577C,Missense_R577C exm12964 1 10357048 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Missense_T606I,Missense_T606I rs76058266 1 10362071 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent 1:10363252-AG 1 10363252 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_D670G exm12973 1 10363309 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_P689L 1:10363355-CA 1 10363355 [A/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_S704R exm12981 1 10363664 [T/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_M807I 1:10363704-GT 1 10363704 [T/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_V821F 1:10363847-CA 1 10363847 [A/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_S868R exm12985 1 10363885 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_G881D exm12988 1 10363929 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_G896R exm12994 1 10364110 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_R956Q exm12996 1 10364139 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_P966S 1:10364242-AG 1 10364242 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_N1000S exm12999 1 10364260 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_E1006G 1:10364335-TC 1 10364335 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_I1031T 1:10364385-CT 1 10364385 [T/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_R1048C exm13007 1 10364419 [A/C] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_P1059Q indel.697 1 10364528 [D/I] NM_015074,NM_183416 KIF1B,KIF1B EXON exm13013 1 10364578 [A/G] NM_015074,NM_183416 KIF1B,KIF1B EXON Silent,Missense_N1112S JHU_1.10370126 1 10370127 [A/G] NM_015074 KIF1B Silent JHU_1.10374239 1 10374240 [A/G] NM_015074 KIF1B Silent exm13020 1 10380144 [T/C] NM_015074 KIF1B EXON Missense_T674I JHU_1.10381505 1 10381506 [T/A] NM_015074 KIF1B Silent 1:10381802-TC 1 10381802 [T/C] NM_015074 KIF1B EXON Missense_W703R rs117525287 1 10381887 [A/G] NM_015074 KIF1B EXON Missense_N731S exm13029 1 10381887 [A/G] NM_015074 KIF1B EXON Missense_N731S exm13031 1 10384031 [C/G] NM_015074 KIF1B EXON Missense_E770D rs74858192 1 10384341 [T/C] NM_015074 KIF1B Silent exm13034 1 10384829 [A/T] NM_015074 KIF1B EXON Missense_L805M exm13035 1 10384864 [A/G] NM_015074 KIF1B EXON Missense_M816I exm13036 1 10384871 [A/C] NM_015074 KIF1B EXON Missense_S819R ilmnseq_rs140015591_F2BT 1 10384871 [A/C] NM_015074 KIF1B EXON Missense_S819R 1:10384872-GA 1 10384872 [A/G] NM_015074 KIF1B EXON Missense_S819N rs145846362 1 10384882 [T/C] NM_015074 KIF1B EXON Synonymous_D822D exm13040 1 10384896 [T/C] NM_015074 KIF1B EXON Missense_T827I exm13043 1 10384941 [A/G] NM_015074 KIF1B EXON Missense_K842R exm-rs17401966 1 10385471 [A/G] NM_015074 KIF1B Silent rs17401966 1 10385471 [A/G] NM_015074 KIF1B Silent rs75461609 1 10385901 [A/G] NM_015074 KIF1B Silent rs141942131 1 10386339 [T/C] NM_015074 KIF1B EXON Missense_T903M rs150831576 1 10386367 [T/C] NM_015074 KIF1B EXON Synonymous_D912D JHU_1.10392571 1 10392572 [T/A] NM_015074 KIF1B Silent variant.699 1 10394696 [A/G] NM_015074 KIF1B EXON Missense_A969T JHU_1.10395682 1 10395683 [T/G] NM_015074 KIF1B Silent JHU_1.10395690 1 10395691 [T/G] NM_015074 KIF1B Silent exm2230665 1 10397247 [A/G] NM_015074 KIF1B EXON Missense_R1036Q rs139324914 1 10397458 [A/C] NM_015074 KIF1B EXON Missense_K1051Q exm13073 1 10397567 [A/G] NM_015074 KIF1B EXON Missense_Y1087C rs78712953 1 10401151 [A/G] NM_015074 KIF1B Silent JHU_1.10402024 1 10402025 [A/G] NM_015074 KIF1B Silent JHU_1.10402515 1 10402516 [T/A] NM_015074 KIF1B Silent rs141224290 1 10403292 [T/C] NM_015074 KIF1B EXON Missense_P1166L exm13084 1 10403292 [T/C] NM_015074 KIF1B EXON Missense_P1166L variant.700 1 10403350 [A/G] NM_015074 KIF1B Silent newrs121908163 1 10406001 [T/C] NM_015074 KIF1B EXON Missense_P1217S exm13101 1 10412758 [A/C] NM_015074 KIF1B EXON Missense_S1294Y rs3748578 1 10420918 [A/G] NM_015074 KIF1B Silent exm13113 1 10421790 [T/C] NM_015074 KIF1B EXON Missense_V1358A 1:10421877-CT 1 10421877 [T/C] NM_015074 KIF1B EXON Missense_P1387L variant.702 1 10421883 [T/C] NM_015074 KIF1B EXON Missense_S1389L 1:10425200-CA 1 10425200 [A/C] NM_015074 KIF1B EXON Missense_A1424E 1:10425470-GA 1 10425470 [A/G] NM_015074 KIF1B EXON Missense_E1460K 1:10425534-G-A 1 10425534 [A/G] NM_015074 KIF1B EXON Missense_S1481N rs147066476 1 10425550 [T/C] NM_015074 KIF1B EXON Synonymous_P1486P exm13132 1 10425598 [T/G] NM_015074 KIF1B EXON Missense_Q1502H rs200255510 1 10425623 [A/G] NM_015074 KIF1B EXON Missense_A1511T JHU_1.10426473 1 10426474 [A/G] NM_015074 KIF1B Silent exm13135 1 10428570 [A/G] NM_015074 KIF1B EXON Missense_V1554M exm13137 1 10428592 [A/G] NM_015074 KIF1B EXON Missense_C1561Y rs12724395 1 10429705 [T/G] NM_015074 KIF1B Silent exm1690543 1 10431299 [A/G] NM_015074 KIF1B EXON Missense_R1596K exm13149 1 10434447 [A/G] NM_015074 KIF1B EXON Missense_E1628K 1:10434466-GA 1 10434466 [A/G] NM_015074 KIF1B EXON Missense_R1634Q rs146436697 1 10435053 [T/C] NM_015074 KIF1B EXON Synonymous_N1700N exm13162 1 10435429 [A/G] NM_015074 KIF1B EXON Missense_I1756M rs1536262 1 10438687 [T/C] NM_015074 KIF1B EXON Silent 1:10438966-G-A 1 10438966 [A/G] NM_015074 KIF1B EXON Silent rs3748581 1 10441664 [T/C] rs4846217 1 10451799 [T/C] exm13180 1 10459761 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Synonymous_V28V,Synonymous_V28V,Synonymous_V15V 1:10459779-G-A 1 10459779 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD Silent,Silent,Silent rs145784341 1 10463146 [T/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Silent,Missense_G95C,Missense_G82C 1:10463146-GT 1 10463146 [T/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Silent,Missense_G95C,Missense_G82C chr1_10463155 1 10463155 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Silent,Missense_I98V,Missense_I85V rs4846219 1 10463888 [A/C] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD Silent,Silent,Silent 1:10464283-GT 1 10464283 [T/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Missense_E110D,Missense_E132D,Missense_E119D rs145443149 1 10467513 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD Silent,Silent,Silent JHU_1.10468561 1 10468562 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD Silent,Silent,Silent JHU_1.10473199 1 10473200 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Missense_D224N,Missense_D246N,Missense_D233N 1:10473200-GA 1 10473200 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Missense_D224N,Missense_D246N,Missense_D233N exm13221 1 10473219 [T/C] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Missense_P230L,Missense_P252L,Missense_P239L 1:10473222-AG 1 10473222 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Missense_K231R,Missense_K253R,Missense_K240R 1:10473275-GA 1 10473275 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Missense_A249T,Missense_A271T,Missense_A258T exm2249478 1 10477441 [T/C] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Synonymous_Y306Y,Synonymous_Y328Y,Synonymous_Y315Y exm1690573 1 10477532 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Missense_A337T,Missense_A359T,Missense_A346T rs181425731 1 10477626 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD Silent,Silent,Silent exm13234 1 10478897 [A/G] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON Missense_K353R,Missense_K375R,Missense_K362R indel.710 1 10478955 [D/I] NM_001304451,NM_002631,NM_001304452 PGD,PGD,PGD EXON JHU_1.10483982 1 10483983 [A/C] rs181666252 1 10484105 [A/G] JHU_1.10484879 1 10484880 [A/G] rs2483679 1 10485019 [A/G] 1:10488314-A-G 1 10488314 [A/G] rs528713 1 10488555 [A/G] JHU_1.10490003 1 10490004 [T/C] rs481571 1 10490881 [A/G] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs597441 1 10493415 [T/C] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT Silent,Silent,Silent,Silent,Silent,Silent,Silent exm13267 1 10493990 [T/C] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Missense_A48V,Missense_A48V,Missense_A48V,Missense_A48V,Silent,Silent,Silent newrs138619348 1 10494013 [T/C] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Nonsense_R56X,Nonsense_R56X,Nonsense_R56X,Nonsense_R56X,Silent,Silent,Silent rs76745872 1 10495680 [T/C] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.10498106 1 10498107 [T/C] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.10499063 1 10499064 [T/C] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74225520 1 10499853 [A/G] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:10500417-AG 1 10500417 [A/G] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Silent,Missense_T75A,Missense_T75A,Missense_T75A,Silent,Silent,Missense_T54A exm13281 1 10502373 [T/C] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Silent,Nonsense_R110X,Nonsense_R110X,Silent,Silent,Silent,Silent 1:10502449-AG 1 10502449 [A/G] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Silent,Missense_E135G,Missense_E135G,Silent,Silent,Silent,Silent exm13283 1 10502454 [A/G] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Silent,Missense_E137K,Missense_E137K,Silent,Silent,Silent,Silent rs2847337 1 10502710 [A/G] NM_199006,NM_199294,NM_001270517,NM_198544,NR_036462,NR_037187,NM_001243768 CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT,CENPS,CENPS-CORT,CENPS-CORT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm13295 1 10511521 [A/G] NM_199006,NM_001270517,NM_198544,NR_037187,NM_001243768,NM_001302 CENPS-CORT,CENPS-CORT,CENPS-CORT,CENPS-CORT,CENPS-CORT,CORT EXON Silent,Silent,Missense_G122R,Silent,Missense_G101R,Missense_G63R exm13304 1 10511596 [T/C] NM_199006,NM_001270517,NM_198544,NR_037187,NM_001243768,NM_001302 CENPS-CORT,CENPS-CORT,CENPS-CORT,CENPS-CORT,CENPS-CORT,CORT EXON Silent,Silent,Missense_R147W,Silent,Missense_R126W,Missense_R88W 1:10511606-TC 1 10511606 [T/C] NM_199006,NM_001270517,NM_198544,NR_037187,NM_001243768,NM_001302 CENPS-CORT,CENPS-CORT,CENPS-CORT,CENPS-CORT,CENPS-CORT,CORT EXON Silent,Silent,Missense_M150T,Silent,Missense_M129T,Missense_M91T rs61776015 1 10513850 [T/C] JHU_1.10518595 1 10518596 [T/C] JHU_1.10519767 1 10519768 [G/C] 1:10521569-CT 1 10521569 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_R325Q exm13311 1 10521629 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_S305F Variant37668 1 10521643 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Synonymous_T300T exm13313 1 10521644 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_T300M exm13315 1 10521656 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_R296H exm13316 1 10521657 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_R296C exm13325 1 10523133 [T/A] NM_213566,NM_004401 DFFA,DFFA EXON Missense_L255F,Missense_L255F exm13329 1 10523191 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Missense_A236V,Missense_A236V exm13330 1 10523195 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_V235I,Missense_V235I 1:10523556-GGACT-G 1 10523556 [I/D] NM_213566,NM_004401 DFFA,DFFA EXON exm13338 1 10523617 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_V168I,Missense_V168I exm13339 1 10523626 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Missense_C165R,Missense_C165R exm13341 1 10523665 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_A152T,Missense_A152T rs6667629 1 10524467 [T/C] NM_213566,NM_004401 DFFA,DFFA Silent,Silent 1:10527306-CA 1 10527306 [A/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_A128S,Missense_A128S exm13349 1 10529326 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Missense_I69T,Missense_I69T 1:10532404-CAGG-C 1 10532404 [I/D] NM_213566,NM_004401 DFFA,DFFA EXON 1:10532436-TC 1 10532436 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_Y27C,Missense_Y27C exm13355 1 10532442 [A/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_R25L,Missense_R25L exm13356 1 10535041 [C/G] NM_004565 PEX14 EXON Missense_Q6H exm1690624 1 10535049 [A/T] NM_004565 PEX14 EXON Missense_Q9L JHU_1.10535809 1 10535810 [A/G] NM_004565 PEX14 Silent 1:10540898-C-T 1 10540898 [T/C] NM_004565 PEX14 Silent rs9970001 1 10543836 [A/G] NM_004565 PEX14 Silent rs1188526 1 10549848 [G/C] NM_004565 PEX14 Silent rs117174759 1 10554088 [A/G] NM_004565 PEX14 Silent rs74051821 1 10554125 [T/C] NM_004565 PEX14 Silent 1:10555370-GA 1 10555370 [A/G] NM_004565 PEX14 EXON Missense_E26K variant.726 1 10555378 [A/G] NM_004565 PEX14 EXON Synonymous_L28L indel.727 1 10555379 [I/D] NM_004565 PEX14 rs636291 1 10556097 [A/G] NM_004565 PEX14 Silent rs115276734 1 10562180 [A/G] NM_004565 PEX14 Silent rs2506901 1 10563492 [A/G] NM_004565 PEX14 Silent rs1755594 1 10565488 [T/C] NM_004565 PEX14 Silent rs616488 1 10566215 [A/G] NM_004565 PEX14 Silent rs17412703 1 10566828 [T/C] NM_004565 PEX14 Silent rs604369 1 10567208 [A/C] NM_004565 PEX14 Silent rs6540934 1 10569930 [T/C] NM_004565 PEX14 Silent rs116000572 1 10572523 [A/G] NM_004565 PEX14 Silent JHU_1.10573042 1 10573043 [T/C] NM_004565 PEX14 Silent JHU_1.10574342 1 10574343 [A/G] NM_004565 PEX14 Silent rs79317148 1 10575910 [A/G] NM_004565 PEX14 Silent rs139450381 1 10576086 [T/C] NM_004565 PEX14 Silent JHU_1.10577273 1 10577274 [A/G] NM_004565 PEX14 Silent JHU_1.10577275 1 10577276 [C/G] NM_004565 PEX14 Silent rs117056076 1 10577515 [T/G] NM_004565 PEX14 Silent rs7419116 1 10578606 [A/G] NM_004565 PEX14 Silent rs7512333 1 10581200 [T/C] NM_004565 PEX14 Silent rs2056417 1 10581658 [A/G] NM_004565 PEX14 Silent rs2483678 1 10582047 [T/C] NM_004565 PEX14 Silent rs2480789 1 10585046 [T/C] NM_004565 PEX14 Silent rs181570539 1 10588409 [T/C] NM_004565 PEX14 Silent rs148027604 1 10591478 [T/G] NM_004565 PEX14 Silent rs189824520 1 10595020 [T/C] NM_004565 PEX14 Silent variant.728 1 10596294 [T/C] NM_004565 PEX14 EXON Nonsense_Q37X 1:10596310-GA 1 10596310 [A/G] NM_004565 PEX14 EXON Missense_R42H rs17035189 1 10597024 [A/G] NM_004565 PEX14 Silent rs2506893 1 10599213 [T/G] NM_004565 PEX14 Silent rs2506894 1 10599842 [A/G] NM_004565 PEX14 Silent rs148157247 1 10602910 [A/G] NM_004565 PEX14 Silent rs11121582 1 10607895 [T/C] NM_004565 PEX14 Silent rs12120962 1 10609505 [A/G] NM_004565 PEX14 Silent rs10157111 1 10613344 [T/G] NM_004565 PEX14 Silent rs10864463 1 10613560 [A/G] NM_004565 PEX14 Silent JHU_1.10613610 1 10613611 [A/G] NM_004565 PEX14 Silent JHU_1.10615188 1 10615189 [A/C] NM_004565 PEX14 Silent rs78432262 1 10615982 [A/G] NM_004565 PEX14 Silent JHU_1.10620772 1 10620773 [A/C] NM_004565 PEX14 Silent JHU_1.10628394 1 10628395 [A/C] NM_004565 PEX14 Silent rs12565494 1 10629562 [A/G] NM_004565 PEX14 Silent exm-rs12741973 1 10638604 [T/C] NM_004565 PEX14 Silent 1:10643146-C-T 1 10643146 [T/C] NM_004565 PEX14 Silent JHU_1.10643196 1 10643197 [A/G] NM_004565 PEX14 Silent rs117719061 1 10643229 [T/C] NM_004565 PEX14 Silent JHU_1.10643673 1 10643674 [T/C] NM_004565 PEX14 Silent JHU_1.10643676 1 10643677 [T/G] NM_004565 PEX14 Silent rs72857041 1 10644149 [A/G] NM_004565 PEX14 Silent rs79669727 1 10649447 [T/C] NM_004565 PEX14 Silent rs116822729 1 10650485 [T/C] NM_004565 PEX14 Silent rs143502127 1 10650657 [T/C] NM_004565 PEX14 Silent JHU_1.10651376 1 10651377 [A/T] NM_004565 PEX14 Silent rs6540940 1 10651460 [T/C] NM_004565 PEX14 Silent JHU_1.10651666 1 10651667 [T/C] NM_004565 PEX14 Silent rs284273 1 10652977 [T/C] NM_004565 PEX14 Silent rs284271 1 10654369 [A/G] NM_004565 PEX14 Silent rs284270 1 10654552 [T/C] NM_004565 PEX14 Silent rs1471642 1 10654688 [T/C] NM_004565 PEX14 Silent exm13373 1 10659333 [T/G] NM_004565 PEX14 EXON Missense_S70A rs77261230 1 10659333 [T/G] NM_004565 PEX14 EXON Missense_S70A rs141248663 1 10660868 [T/G] NM_004565 PEX14 Silent JHU_1.10664178 1 10664179 [A/G] NM_004565 PEX14 Silent JHU_1.10668798 1 10668799 [A/T] NM_004565 PEX14 Silent rs76248111 1 10671565 [A/G] NM_004565 PEX14 Silent rs150029167 1 10672617 [A/C] NM_004565 PEX14 Silent rs3790630 1 10673094 [T/C] NM_004565 PEX14 Silent JHU_1.10674681 1 10674682 [T/C] NM_004565 PEX14 Silent rs284239 1 10676800 [T/G] NM_004565 PEX14 Silent rs12061667 1 10678439 [T/G] NM_004565 PEX14 EXON Missense_A117S rs78282029 1 10679714 [T/C] NM_004565 PEX14 Silent JHU_1.10682856 1 10682857 [T/C] NM_004565 PEX14 Silent 1:10683107-GA 1 10683107 [A/G] NM_004565 PEX14 EXON Missense_R139Q exm13394 1 10683142 [A/G] NM_004565 PEX14 EXON Missense_G151S exm13395 1 10683165 [A/C] NM_004565 PEX14 EXON Missense_S158R exm13396 1 10683166 [A/G] NM_004565 PEX14 EXON Missense_V159M rs190775 1 10683683 [T/G] NM_004565 PEX14 Silent 1:10684462-C-T 1 10684462 [T/C] NM_004565 PEX14 EXON Nonsense_Q185X exm13408 1 10687345 [A/G] NM_004565 PEX14 EXON Missense_N201S exm13414 1 10689676 [A/G] NM_004565 PEX14 EXON Missense_V256M rs36083022 1 10689678 [A/G] NM_004565 PEX14 EXON Synonymous_V256V rs41274484 1 10689705 [A/G] NM_004565 PEX14 EXON Synonymous_S265S rs143412169 1 10689735 [A/G] NM_004565 PEX14 EXON Synonymous_S275S 1:10689834-GT 1 10689834 [T/G] NM_004565 PEX14 EXON Missense_Q308H 1:10690037-GA 1 10690037 [A/G] NM_004565 PEX14 EXON Missense_R376Q rs144326771 1 10693577 [A/G] JHU_1.10697391 1 10697392 [T/C] NM_001079843 CASZ1 EXON Silent chr1_10699655 1 10699655 [T/C] NM_001079843 CASZ1 EXON Missense_V1542M exm13478 1 10700044 [A/C] NM_001079843 CASZ1 EXON Missense_F1412C 1:10700102-TG 1 10700102 [T/G] NM_001079843 CASZ1 EXON Missense_M1393L rs2128416 1 10700448 [T/C] NM_001079843 CASZ1 Silent rs114929858 1 10700855 [A/G] NM_001079843 CASZ1 Silent JHU_1.10702506 1 10702507 [A/G] NM_001079843 CASZ1 Silent rs35619052 1 10702814 [A/G] NM_001079843 CASZ1 Silent 1:10702960-CT 1 10702960 [T/C] NM_001079843 CASZ1 EXON Missense_R1373Q exm13485 1 10703026 [T/C] NM_001079843 CASZ1 EXON Missense_D1351G 1:10703326-CT 1 10703326 [T/C] NM_001079843 CASZ1 EXON Missense_R1304Q 1:10704191-G-C 1 10704191 [G/C] NM_001079843 CASZ1 Silent rs11587145 1 10704688 [T/C] NM_001079843 CASZ1 Silent exm13496 1 10705025 [C/G] NM_001079843 CASZ1 EXON Missense_A1273P 1:10705100-CT 1 10705100 [T/C] NM_001079843 CASZ1 EXON Missense_G1248S exm13502 1 10705106 [A/G] NM_001079843 CASZ1 EXON Missense_R1246C 1:10706251-GT 1 10706251 [T/G] NM_001079843 CASZ1 EXON Missense_N1210K exm13515 1 10706383 [A/G] NM_001079843 CASZ1 EXON Synonymous_N1166N 1:10707934-CT 1 10707934 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A1141T,Missense_A1141T 1:10708129-CT 1 10708129 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A1076T,Missense_A1076T rs778228 1 10708142 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Synonymous_F1071F,Synonymous_F1071F 1:10708167-GT 1 10708167 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A1063E,Missense_A1063E 1:10709415-GA 1 10709415 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_S987L,Missense_S987L exm13552 1 10709453 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_I974M,Missense_I974M exm1690682 1 10709469 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_G969D,Missense_G969D JHU_1.10710099 1 10710100 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent 1:10713130-GA 1 10713130 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent 1:10713163-AG 1 10713163 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent 1:10713190-GA 1 10713190 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent 1:10713302-GT 1 10713302 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent 1:10713382-CT 1 10713382 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent 1:10713415-CA 1 10713415 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent exm13576 1 10713601 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T838M,Missense_T838M rs284294 1 10713765 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Synonymous_S783S,Synonymous_S783S 1:10713829-GA 1 10713829 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_P762L,Missense_P762L exm13587 1 10713854 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A754T,Missense_A754T exm1690697 1 10713980 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A712T,Missense_A712T 1:10713997-GA 1 10713997 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_P706L,Missense_P706L 1:10714136-CT 1 10714136 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_V660M,Missense_V660M 1:10714202-CT 1 10714202 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_D638N,Missense_D638N exm13612 1 10714261 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T618I,Missense_T618I rs146411684 1 10715347 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent exm13625 1 10715762 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_V537I,Missense_V537I rs117706444 1 10716532 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent 1:10718593-CT 1 10718593 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_V461I,Missense_V461I exm13634 1 10718605 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_V457I,Missense_V457I 1:10719835-AC 1 10719835 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_F422V,Missense_F422V 1:10719865-GT 1 10719865 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_P412T,Missense_P412T 1:10719934-CA 1 10719934 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_V389F,Missense_V389F exm13661 1 10720123 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R326W,Missense_R326W exm13663 1 10720135 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_G322S,Missense_G322S 1:10720138-TC 1 10720138 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T321A,Missense_T321A exm13670 1 10720254 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T282M,Missense_T282M exm13675 1 10720339 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_W254G,Missense_W254G exm13677 1 10720369 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R244C,Missense_R244C 1:10720395-CT 1 10720395 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R235Q,Missense_R235Q 1:10720539-CT 1 10720539 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_G187D,Missense_G187D rs75932283 1 10721402 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs117306735 1 10722564 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10724420 1 10724421 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent exm13694 1 10725154 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_T164I,Missense_T164I exm13697 1 10725188 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_G153R,Missense_G153R exm13698 1 10725193 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_S151L,Missense_S151L exm13700 1 10725239 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_A136P,Missense_A136P exm13701 1 10725240 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_H135Q,Missense_H135Q exm13702 1 10725278 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_M123V,Missense_M123V rs17035539 1 10725387 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Synonymous_A86A,Synonymous_A86A 1:10725392-GA 1 10725392 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R85W,Missense_R85W 1:10725412-CT 1 10725412 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R78H,Missense_R78H exm13718 1 10725469 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_S59L,Missense_S59L 1:10725494-CT 1 10725494 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_G51S,Missense_G51S rs284322 1 10725498 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Synonymous_D49D,Synonymous_D49D JHU_1.10727716 1 10727717 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs58140483 1 10729381 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10730001 1 10730002 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs116756239 1 10731435 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10732273 1 10732274 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent 1:10732474-C-T 1 10732474 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10734817 1 10734818 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10735078 1 10735079 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10735862 1 10735863 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs284313 1 10736434 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs284307 1 10739255 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs78913766 1 10739360 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs12073762 1 10739523 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs556506 1 10740626 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10742978 1 10742979 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs284262 1 10743363 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs516243 1 10750432 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10751152 1 10751153 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs284241 1 10751579 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10753492 1 10753493 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10753798 1 10753799 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs4845947 1 10757054 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs710132 1 10757902 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10758612 1 10758613 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs59705351 1 10758613 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs77678229 1 10759180 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs2387232 1 10759741 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs17416005 1 10761759 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs7514663 1 10762349 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs7514751 1 10762432 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs77151436 1 10764202 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10764745 1 10764746 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs79008592 1 10765401 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs11804707 1 10766466 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs4845952 1 10767379 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs74761149 1 10767613 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs616519 1 10768002 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10768306 1 10768307 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs189638272 1 10769466 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10769777 1 10769778 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs58810407 1 10773987 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs284247 1 10774856 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs6660497 1 10775108 [C/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs79865085 1 10775383 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs74052172 1 10776939 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10777055 1 10777056 [C/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs72860177 1 10777292 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs74052173 1 10777478 [T/A] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs184021 1 10779039 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs706007 1 10780727 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs56121564 1 10781359 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10785774 1 10785775 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10787537 1 10787538 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs12057815 1 10788052 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs284277 1 10790797 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs755106 1 10793782 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10796018 1 10796019 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent exm-rs880315 1 10796866 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs880315 1 10796866 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs880315_ilmndup1 1 10796866 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10798156 1 10798157 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10799555 1 10799556 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent exm-rs12046278 1 10799577 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs6700479 1 10800737 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10802449 1 10802450 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10803356 1 10803357 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10803449 1 10803450 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10803527 1 10803528 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10803812 1 10803813 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10803866 1 10803867 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10803888 1 10803889 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10804218 1 10804219 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs76892273 1 10805263 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10805413 1 10805414 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs4845844 1 10805465 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10805464 1 10805465 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10805467 1 10805468 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs79180527 1 10805744 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs72860200 1 10808225 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10808315 1 10808316 [T/A] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs76898565 1 10808415 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs2076492 1 10808587 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10809595 1 10809596 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10811324 1 10811325 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10814190 1 10814191 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10814439 1 10814440 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs117912050 1 10815612 [T/A] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10815671 1 10815672 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs6688219 1 10816217 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs6540947 1 10817911 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs7512641 1 10822171 [T/A] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs12073890 1 10822357 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs150874880 1 10823086 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs80326053 1 10823520 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs7519604 1 10824835 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs11121615 1 10825577 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs142460406 1 10826040 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs205488 1 10827135 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs205474 1 10832861 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs17035702 1 10834276 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs75587786 1 10837378 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs112035960 1 10837632 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs1737616 1 10840054 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs710137 1 10842386 [G/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs710138 1 10844444 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10845098 1 10845099 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs6658023 1 10847340 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs10864471 1 10849645 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs1737617 1 10850798 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10851034 1 10851035 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs116857169 1 10851774 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs114873631 1 10852503 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs2387416 1 10854473 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10855509 1 10855510 [T/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs11577305 1 10855638 [C/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent JHU_1.10857009 1 10857010 [A/G] JHU_1.10857593 1 10857594 [T/G] JHU_1.10858398 1 10858399 [T/C] rs74052509 1 10858542 [C/G] rs11121628 1 10859478 [A/G] JHU_1.10861839 1 10861840 [T/C] rs76635252 1 10862393 [T/G] rs74052513 1 10862999 [A/C] rs139968141 1 10863440 [T/C] JHU_1.10863798 1 10863799 [A/C] JHU_1.10864915 1 10864916 [T/C] rs1750859 1 10867504 [T/A] rs1750861 1 10869052 [A/C] JHU_1.10869152 1 10869153 [A/C] JHU_1.10870690 1 10870691 [A/G] rs7537020 1 10871247 [A/G] rs141358545 1 10871375 [T/G] rs141764810 1 10872581 [A/C] JHU_1.10873790 1 10873791 [A/G] JHU_1.10873960 1 10873961 [T/C] rs1776219 1 10874152 [T/G] rs1776220 1 10874522 [T/C] rs7547155 1 10874877 [A/C] rs10779747 1 10875070 [T/C] rs74773666 1 10875996 [C/G] rs114176284 1 10877429 [A/C] JHU_1.10877739 1 10877740 [A/C] rs6540951 1 10879725 [A/G] rs12744556 1 10880048 [A/G] rs116641109 1 10880652 [A/G] rs78961122 1 10882490 [A/C] rs706006 1 10883314 [A/G] rs2294749 1 10884911 [T/C] rs117463029 1 10885216 [T/C] rs111845572 1 10885653 [T/C] rs79659324 1 10887205 [T/C] JHU_1.10888156 1 10888157 [C/G] rs115793207 1 10888611 [T/C] rs572950 1 10889280 [T/G] rs7555879 1 10890026 [A/G] rs661352 1 10890155 [T/G] rs77654188 1 10890236 [T/C] exm2249489 1 10890771 [A/G] JHU_1.10890971 1 10890972 [A/G] rs116764210 1 10890972 [A/G] JHU_1.10891176 1 10891177 [A/T] rs526764 1 10891687 [A/G] rs585274 1 10892606 [G/C] rs1292657 1 10893081 [A/G] rs58177718 1 10895024 [A/G] rs12143767 1 10898751 [T/C] JHU_1.10900680 1 10900681 [T/C] rs76479481 1 10901093 [T/C] rs555027 1 10901907 [T/C] rs6682973 1 10905544 [T/C] rs566800 1 10907729 [T/A] rs672270 1 10907842 [A/C] JHU_1.10909298 1 10909299 [T/C] rs1292668 1 10910069 [A/G] rs145443595 1 10910270 [T/C] rs71645070 1 10911825 [T/A] rs637037 1 10912551 [T/C] JHU_1.10912660 1 10912661 [A/G] rs66786647 1 10913131 [T/C] JHU_1.10913914 1 10913915 [A/C] rs113246204 1 10917618 [T/C] JHU_1.10917617 1 10917618 [T/C] rs77903336 1 10920086 [T/C] rs11800035 1 10920092 [A/G] rs549925 1 10920472 [G/C] JHU_1.10920536 1 10920537 [T/C] rs550887 1 10920576 [T/C] rs150979442 1 10921207 [A/G] rs1280993 1 10921228 [T/C] rs187110320 1 10923221 [G/C] rs1280989 1 10924273 [A/G] rs1280988 1 10924710 [A/G] JHU_1.10928205 1 10928206 [A/T] rs10864475 1 10929009 [A/G] rs1281001 1 10929298 [A/G] rs723375 1 10930491 [T/G] rs78765361 1 10930619 [T/G] rs72864671 1 10932359 [A/G] rs35787367 1 10932629 [A/G] rs6677198 1 10934895 [A/G] rs6690924 1 10935265 [A/G] rs12756252 1 10935519 [A/G] JHU_1.10935594 1 10935595 [A/G] rs77189081 1 10938122 [T/C] rs6660223 1 10938897 [T/C] rs11586137 1 10940895 [A/C] rs145118782 1 10941161 [T/C] JHU_1.10943225 1 10943226 [T/C] rs7543908 1 10947553 [T/C] rs4845960 1 10947580 [A/G] rs6670956 1 10957719 [A/C] JHU_1.10958053 1 10958054 [T/C] rs148483916 1 10958991 [A/G] rs78029528 1 10960746 [T/C] rs11586085 1 10961876 [A/G] JHU_1.10963524 1 10963525 [A/G] JHU_1.10965237 1 10965238 [A/C] JHU_1.10965438 1 10965439 [A/G] rs67978715 1 10968701 [T/C] rs11121651 1 10968966 [T/C] JHU_1.10970719 1 10970720 [T/C] JHU_1.10971677 1 10971678 [T/G] rs117694264 1 10971837 [A/G] rs10157927 1 10974329 [T/G] rs146441170 1 10974357 [A/G] rs6540954 1 10977102 [T/G] rs1280971 1 10978316 [A/G] rs12046400 1 10980301 [A/G] JHU_1.10980595 1 10980596 [T/A] rs72643302 1 10980596 [T/A] rs2387422 1 10980998 [T/C] rs10779748 1 10985068 [A/G] rs12748162 1 10986308 [A/C] rs1769661 1 10987110 [T/A] JHU_1.10988640 1 10988641 [T/C] rs2387698 1 10992104 [A/G] JHU_1.10993679 1 10993680 [T/C] JHU_1.10993726 1 10993727 [A/C] JHU_1.10993940 1 10993941 [T/C] rs148692319 1 10994890 [A/G] rs116362252 1 10995805 [T/C] rs9803711 1 10996382 [A/G] rs7527445 1 10997978 [T/C] rs114671164 1 10998108 [T/C] rs744921 1 10998509 [A/G] rs1925666 1 10999600 [T/C] rs146237096 1 11000862 [A/C] JHU_1.11001423 1 11001424 [A/G] rs1281032 1 11002232 [A/C] rs6656310 1 11002488 [T/C] rs1925665 1 11003473 [T/A] rs6666764 1 11005495 [T/C] JHU_1.11006849 1 11006850 [A/G] NM_001170754 C1orf127 Silent exm13736 1 11007725 [A/G] NM_001170754 C1orf127 EXON Missense_R823C 1:11007854-GA 1 11007854 [A/G] NM_001170754 C1orf127 EXON Missense_P780S exm13741 1 11007895 [T/G] NM_001170754 C1orf127 EXON Missense_P766H exm13745 1 11007930 [T/G] NM_001170754 C1orf127 EXON Missense_S754R 1:11007937-GA 1 11007937 [A/G] NM_001170754 C1orf127 EXON Missense_T752M 1:11007946-A-AC 1 11007946 [D/I] NM_001170754 C1orf127 EXON exm13750 1 11007997 [T/C] NM_001170754 C1orf127 EXON Missense_R732Q exm13752 1 11008043 [A/G] NM_001170754 C1orf127 EXON Missense_L717F exm13754 1 11008055 [A/G] NM_001170754 C1orf127 EXON Missense_R713C exm13758 1 11008102 [A/G] NM_001170754 C1orf127 EXON Missense_A697V rs10864483 1 11008341 [A/G] NM_001170754 C1orf127 EXON Synonymous_C617C exm13783 1 11008406 [A/G] NM_001170754 C1orf127 EXON Missense_R596W exm13786 1 11008487 [T/C] NM_001170754 C1orf127 EXON Missense_G569R exm13789 1 11008532 [T/C] NM_001170754 C1orf127 EXON Missense_A554T 1:11008613-GA 1 11008613 [A/G] NM_001170754 C1orf127 EXON Nonsense_R527X exm13795 1 11008633 [A/G] NM_001170754 C1orf127 EXON Missense_P520L exm13799 1 11008684 [A/G] NM_001170754 C1orf127 EXON Missense_T503M exm13800 1 11008685 [T/C] NM_001170754 C1orf127 EXON Missense_T503A exm13802 1 11008700 [A/G] NM_001170754 C1orf127 EXON Missense_R498C 1:11008753-GA 1 11008753 [A/G] NM_001170754 C1orf127 EXON Missense_A480V exm13816 1 11008864 [A/G] NM_001170754 C1orf127 EXON Missense_A443V exm13817 1 11008870 [T/C] NM_001170754 C1orf127 EXON Missense_K441R exm13818 1 11008894 [A/G] NM_001170754 C1orf127 EXON Missense_L433P exm13820 1 11009679 [A/G] NM_001170754 C1orf127 Silent 1:11009695-CT 1 11009695 [T/C] NM_001170754 C1orf127 EXON Missense_D426N exm13824 1 11009703 [T/C] NM_001170754 C1orf127 EXON Missense_R423Q exm13826 1 11009716 [C/G] NM_001170754 C1orf127 EXON Missense_D419H 1:11009761-TG-T 1 11009761 [D/I] NM_001170754 C1orf127 EXON Variant12314 1 11009808 [D/I] NM_001170754 C1orf127 EXON 1:11009839-CA 1 11009839 [A/C] NM_001170754 C1orf127 EXON Missense_A378S exm13829 1 11009844 [A/G] NM_001170754 C1orf127 EXON Missense_T376I rs1281008 1 11011002 [T/C] NM_001170754 C1orf127 Silent exm13832 1 11014091 [A/G] NM_001170754 C1orf127 EXON Missense_F362L exm13835 1 11014118 [T/C] NM_001170754 C1orf127 EXON Missense_A353T 1:11014152-CA 1 11014152 [A/C] NM_001170754 C1orf127 EXON Missense_R341S exm13838 1 11014174 [A/G] NM_001170754 C1orf127 EXON Missense_P334L chr1_11014184 1 11014184 [T/C] NM_001170754 C1orf127 EXON Missense_G331R exm13840 1 11014199 [C/G] NM_001170754 C1orf127 EXON Missense_R326G var_1_11015136 1 11015136 [A/G] NM_001170754 C1orf127 EXON Nonsense_R296X exm13854 1 11015165 [A/G] NM_001170754 C1orf127 EXON Missense_I286T 1:11015235-GT 1 11015235 [T/G] NM_001170754 C1orf127 EXON Missense_Q263K 1:11017106-TC 1 11017106 [T/C] NM_001170754 C1orf127 EXON Missense_Y251C exm13855 1 11017141 [A/G] NM_001170754 C1orf127 EXON Synonymous_L239L exm13856 1 11017163 [A/G] NM_001170754 C1orf127 EXON Missense_V232A 1:11017663-CT 1 11017663 [T/C] NM_001170754 C1orf127 Silent JHU_1.11020505 1 11020506 [T/C] NM_001170754 C1orf127 Silent rs4282824 1 11021064 [T/C] NM_001170754 C1orf127 Silent JHU_1.11027377 1 11027378 [G/C] NM_001170754 C1orf127 Silent rs138474674 1 11027420 [T/G] NM_001170754 C1orf127 Silent rs74052097 1 11028623 [T/C] NM_001170754 C1orf127 Silent exm2259679 1 11029478 [T/G] NM_001170754 C1orf127 Silent JHU_1.11029941 1 11029942 [A/G] NM_001170754 C1orf127 Silent 1:11029944-T-C 1 11029944 [T/C] NM_001170754 C1orf127 Silent JHU_1.11030295 1 11030296 [T/C] NM_001170754 C1orf127 Silent JHU_1.11030899 1 11030900 [A/G] NM_001170754 C1orf127 Silent JHU_1.11031426 1 11031427 [A/C] NM_001170754 C1orf127 Silent JHU_1.11031606 1 11031607 [T/C] NM_001170754 C1orf127 Silent JHU_1.11032523 1 11032524 [T/A] NM_001170754 C1orf127 Silent rs2003046 1 11032827 [A/C] NM_001170754 C1orf127 Silent rs12565727 1 11033082 [A/G] NM_001170754 C1orf127 Silent rs72868169 1 11036696 [T/C] NM_001170754 C1orf127 Silent rs11121667 1 11038476 [T/C] NM_001170754 C1orf127 Silent JHU_1.11040116 1 11040117 [A/G] NM_001170754 C1orf127 Silent JHU_1.11041880 1 11041881 [T/G] NM_001170754 C1orf127 Silent rs58374869 1 11046215 [A/G] rs9430161 1 11046855 [T/G] rs7547006 1 11050459 [A/C] rs6704113 1 11053101 [A/G] rs11121675 1 11060075 [T/G] rs79373286 1 11060698 [A/G] JHU_1.11060887 1 11060888 [A/C] rs186806326 1 11061402 [C/G] rs11121676 1 11063043 [T/C] rs12025269 1 11063487 [A/G] rs147084734 1 11065800 [G/C] JHU_1.11070309 1 11070310 [T/C] rs9430335 1 11072117 [T/C] rs968545 1 11072579 [T/C] rs61775597 1 11073323 [A/C] NM_007375 TARDBP Silent 1:11073982-TC 1 11073982 [T/C] NM_007375 TARDBP EXON Synonymous_A66A exm13889 1 11076931 [T/C] NM_007375 TARDBP EXON Missense_A90V 1:11078893-A-G 1 11078893 [A/G] NM_007375 TARDBP EXON Missense_D169G rs2273348 1 11079077 [A/G] NM_007375 TARDBP Silent JHU_1.11080329 1 11080330 [A/G] NM_007375 TARDBP Silent 1:11082325-G-A 1 11082325 [A/G] NM_007375 TARDBP EXON Missense_G287S ilmnseq_rs80356719 1 11082325 [A/G] NM_007375 TARDBP EXON Missense_G287S 1:11082335-G-C 1 11082335 [G/C] NM_007375 TARDBP EXON Missense_G290A 1:11082349-G-A 1 11082349 [A/G] NM_007375 TARDBP EXON Missense_G295S 1:11082397-A-G 1 11082397 [A/G] NM_007375 TARDBP EXON Missense_M311V 1:11082409-G-A 1 11082409 [A/G] NM_007375 TARDBP EXON Missense_A315T 1:11082457-C-A 1 11082457 [A/C] NM_007375 TARDBP EXON Missense_Q331K 1:11082461-G-A 1 11082461 [A/G] NM_007375 TARDBP EXON Missense_S332N 1:11082470-G-A 1 11082470 [A/G] NM_007375 TARDBP EXON Missense_G335D 1:11082475-A-G 1 11082475 [A/G] NM_007375 TARDBP EXON Missense_M337V 1:11082494-A-G 1 11082494 [A/G] NM_007375 TARDBP EXON Missense_Q343R 1:11082501-C-A 1 11082501 [A/C] NM_007375 TARDBP EXON Missense_N345K 1:11082508-G-T 1 11082508 [T/G] NM_007375 TARDBP EXON Missense_G348C 1:11082521-A-G 1 11082521 [A/G] NM_007375 TARDBP EXON Missense_N352S 1:11082549-G-T 1 11082549 [T/G] NM_007375 TARDBP EXON Missense_R361S 1:11082563-C-G 1 11082563 [G/C] NM_007375 TARDBP EXON Missense_A366G Variant47948 1 11082568 [A/G] NM_007375 TARDBP EXON Missense_G368S 1:11082601-T-C 1 11082601 [T/C] NM_007375 TARDBP EXON Missense_S379P 1:11082602-C-G 1 11082602 [C/G] NM_007375 TARDBP EXON Missense_S379C 1:11082613-A-G 1 11082613 [A/G] NM_007375 TARDBP EXON Missense_I383V 1:11082634-A-G 1 11082634 [A/G] NM_007375 TARDBP EXON Missense_N390D 1:11082635-A-G 1 11082635 [A/G] NM_007375 TARDBP EXON Missense_N390S 1:11082644-C-T 1 11082644 [T/C] NM_007375 TARDBP EXON Missense_S393L 1:11083408-G-A 1 11083408 [A/G] NM_007375 TARDBP EXON Silent rs1033638 1 11086717 [A/G] NM_006610 MASP2 EXON Silent exm13915 1 11086950 [T/C] NM_006610 MASP2 EXON Missense_D685N Variant37671 1 11087065 [T/C] NM_006610 MASP2 EXON Synonymous_R646R 1:11087079-TC 1 11087079 [T/C] NM_006610 MASP2 EXON Missense_S642G rs138934492 1 11087100 [T/C] NM_006610 MASP2 EXON Missense_G635R exm13924 1 11087100 [T/C] NM_006610 MASP2 EXON Missense_G635R exm13925 1 11087121 [T/C] NM_006610 MASP2 EXON Missense_S628G exm13927 1 11087207 [A/G] NM_006610 MASP2 EXON Missense_T599I exm13929 1 11087231 [A/G] NM_006610 MASP2 EXON Missense_P591L rs144471433 1 11087272 [T/G] NM_006610 MASP2 EXON Missense_Q577H exm13931 1 11087272 [T/G] NM_006610 MASP2 EXON Missense_Q577H rs202214079 1 11087276 [A/G] NM_006610 MASP2 EXON Missense_T576I exm13932 1 11087284 [G/C] NM_006610 MASP2 EXON Missense_W573C exm13934 1 11087301 [G/C] NM_006610 MASP2 EXON Missense_G568R indel.751 1 11087318 [I/D] NM_006610 MASP2 EXON newrs137990115 1 11087334 [A/C] NM_006610 MASP2 EXON Nonsense_E557X exm1694083 1 11087337 [T/C] NM_006610 MASP2 EXON Missense_K556E indel.754 1 11087344 [D/I] NM_006610 MASP2 EXON 1:11087429-TC 1 11087429 [T/C] NM_006610 MASP2 EXON Missense_H525R indel.755 1 11087488 [I/D] NM_006610 MASP2 EXON 1:11087501-GT 1 11087501 [T/G] NM_006610 MASP2 EXON Missense_T501N exm13951 1 11087612 [C/G] NM_006610 MASP2 EXON Missense_G464A exm13954 1 11087687 [T/C] NM_006610 MASP2 EXON Missense_R439H 1:11090274-GA 1 11090274 [A/G] NM_006610 MASP2 EXON Missense_T419M rs61735593 1 11090287 [T/C] NM_006610 MASP2 EXON Missense_D415N exm13958 1 11090287 [T/C] NM_006610 MASP2 EXON Missense_D415N exm13960 1 11090814 [T/C] NM_006610 MASP2 EXON Missense_V405M exm13962 1 11090840 [T/C] NM_006610 MASP2 EXON Missense_C396Y rs185903926 1 11090840 [T/C] NM_006610 MASP2 EXON Missense_C396Y exm13964 1 11090885 [A/G] NM_006610 MASP2 EXON Missense_T381I rs2273346 1 11090897 [A/G] NM_006610 MASP2 EXON Missense_V377A exm13966 1 11090897 [A/G] NM_006610 MASP2 EXON Missense_V377A exm13967 1 11090916 [A/C] NM_006610 MASP2 EXON Missense_D371Y JHU_1.11094465 1 11094466 [A/C] NM_006610 MASP2 Silent JHU_1.11094771 1 11094772 [A/G] NM_006610 MASP2 Silent rs61773661 1 11096093 [A/G] NM_006610 MASP2 Silent variant.758 1 11097774 [T/G] NM_006610 MASP2 EXON Nonsense_C328X 1:11097823-GC 1 11097823 [G/C] NM_006610 MASP2 EXON Nonsense_S312X exm13983 1 11097867 [T/C] NM_006610 MASP2 EXON Synonymous_A297A rs61535446 1 11100898 [A/G] NM_006610 MASP2 Silent rs72870059 1 11100991 [A/G] NM_006610 MASP2 Silent rs140065487 1 11101273 [A/G] NM_006610 MASP2 Silent 1:11102932-CT 1 11102932 [T/C] NM_006610 MASP2 EXON Missense_A297T rs61735598 1 11102939 [T/C] NM_006610 MASP2 EXON Synonymous_T294T exm13987 1 11102940 [A/G] NM_006610 MASP2 EXON Missense_T294M rs183668221 1 11102959 [T/C] NM_006610 MASP2 EXON Missense_G288S indel.760 1 11103004 [D/I] NM_006610 MASP2 EXON 1:11103015-GT 1 11103015 [T/G] NM_006610 MASP2 EXON Missense_T269K 1:11103065-CTCTG-C 1 11103065 [D/I] NM_006610 MASP2 EXON 1:11103452-CA 1 11103452 [A/C] NM_006610 MASP2 EXON Nonsense_E229X 1:11103511-GGA-G 1 11103511 [I/D] NM_006610 MASP2 EXON JHU_1.11104220 1 11104221 [A/T] NM_006610 MASP2 Silent 1:11105378-CT 1 11105378 [T/C] NM_006610,NM_139208 MASP2,MASP2 Silent,Silent 1:11105417-CT 1 11105417 [T/C] NM_006610,NM_139208 MASP2,MASP2 Silent,Silent Variant47953 1 11105542 [T/C] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_C156Y,Missense_C156Y rs41307788 1 11105542 [T/C] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_C156Y,Missense_C156Y rs2273343 1 11105545 [T/C] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_H155R,Missense_H155R 1:11105595-GT 1 11105595 [T/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_D138E,Missense_D138E rs201551849 1 11106628 [A/C] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_F133V,Missense_F133V exm14025 1 11106628 [A/C] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_F133V,Missense_F133V rs144632025 1 11106630 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_A132V,Missense_A132V exm14026 1 11106630 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_A132V,Missense_A132V rs141145402 1 11106642 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_T128M,Missense_T128M rs192007831 1 11106655 [T/C] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_E124K,Missense_E124K 1:11106729-CT 1 11106729 [T/C] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_R99Q,Missense_R99Q 1:11106736-TG 1 11106736 [T/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_T97P,Missense_T97P 1:11106754-CT 1 11106754 [T/C] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_G91R,Missense_G91R exm14039 1 11106762 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_T88M,Missense_T88M exm14040 1 11106783 [T/G] NM_006610,NM_139208 MASP2,MASP2 EXON Nonsense_S81X,Nonsense_S81X 1:11106954-GT 1 11106954 [T/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_F76L,Missense_F76L 1:11106974-GA 1 11106974 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_H70Y,Missense_H70Y 1:11106997-GT 1 11106997 [T/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_T62N,Missense_T62N 1:11107063-GA 1 11107063 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_A40V,Missense_A40V exm14051 1 11107144 [A/G] NM_006610,NM_139208 MASP2,MASP2 EXON Missense_S13L,Missense_S13L rs12143364 1 11111153 [C/G] rs12121344 1 11111629 [T/C] rs150697148 1 11112302 [A/G] 1:11114939-GA 1 11114939 [A/G] NM_003132 SRM EXON Synonymous_L298L 1:11114966-GA 1 11114966 [A/G] NM_003132 SRM Silent 1:11115063-CT 1 11115063 [T/C] NM_003132 SRM EXON Missense_D282N exm14076 1 11115126 [T/C] NM_003132 SRM EXON Missense_E261K 1:11118844-CT 1 11118844 [T/C] NM_003132 SRM Silent JHU_1.11125732 1 11125733 [C/G] rs2261217 1 11127764 [A/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent exm1694875 1 11128123 [A/T] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Nonsense_K832X,Nonsense_K857X exm14113 1 11128712 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_P822L,Missense_P847L newrs192329748 1 11128770 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent JHU_1.11129316 1 11129317 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent exm14118 1 11129649 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_D794N,Missense_D819N rs143402418 1 11129656 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Synonymous_T791T,Synonymous_T816T 1:11129682-GA 1 11129682 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_P783S,Missense_P808S 1:11129715-TTCTTC-T 1 11129715 [D/I] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON rs2791653 1 11129848 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent 1:11130970-CT 1 11130970 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R743Q,Missense_R768Q exm14124 1 11130974 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_V742I,Missense_V767I 1:11131006-GA 1 11131006 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_A731V,Missense_A756V rs60786969 1 11131934 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent JHU_1.11131933 1 11131934 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent exm14134 1 11134005 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Silent,Missense_T715A exm14137 1 11134043 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Silent,Missense_R702H 1:11136909-GA 1 11136909 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_T659M,Missense_T659M 1:11137619-TG 1 11137619 [T/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent 1:11137678-CT 1 11137678 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_G594R,Missense_G594R rs142952583 1 11140805 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent 1:11140947-GA 1 11140947 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_T487M,Missense_T487M exm14187 1 11141195 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_G461R,Missense_G461R 1:11141203-CT 1 11141203 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R458H,Missense_R458H exm14190 1 11141228 [T/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_K450Q,Missense_K450Q exm14196 1 11142745 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R427H,Missense_R427H 1:11142788-CT 1 11142788 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_V413M,Missense_V413M exm14200 1 11142844 [A/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R394L,Missense_R394L 1:11147549-TC 1 11147549 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_M349V,Missense_M349V var_1_11147637 1 11147637 [T/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Nonsense_Y319X,Nonsense_Y319X 1:11147900-TC 1 11147900 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_N301S,Missense_N301S 1:11147964-AG 1 11147964 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_Y280H,Missense_Y280H rs140737225 1 11148644 [G/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent JHU_1.11148650 1 11148651 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent exm2249583 1 11150667 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Synonymous_P234P,Synonymous_P234P 1:11150669-GA 1 11150669 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_P234S,Missense_P234S 1:11151118-AG 1 11151118 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_L199P,Missense_L199P 1:11151151-CT 1 11151151 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R188Q,Missense_R188Q 1:11151196-CT 1 11151196 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R173Q,Missense_R173Q exm14241 1 11151554 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R158H,Missense_R158H rs17450675 1 11153255 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent 1:11155886-TG 1 11155886 [T/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_S101R,Missense_S101R 1:11155909-CA 1 11155909 [A/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_C93F,Missense_C93F exm14250 1 11158105 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_E74K,Missense_E74K 1:11158143-TC 1 11158143 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_D61G,Missense_D61G exm14254 1 11158209 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_A39V,Missense_A39V exm14259 1 11159851 [A/G] NM_002685,NM_001001998,NR_135062,NR_135061 EXOSC10,EXOSC10,LOC105376736,LOC105376736 EXON Missense_S13L,Missense_S13L,Silent,Silent rs117220940 1 11161603 [T/C] NR_135062,NR_135061,NR_135063 LOC105376736,LOC105376736,LOC105376736 Silent,Silent,Silent JHU_1.11166072 1 11166073 [A/G] rs17235675 1 11166073 [A/G] JHU_1.11166301 1 11166302 [T/C] 1:11167146-G-A 1 11167146 [A/G] NM_004958 MTOR EXON Silent rs12139042 1 11167146 [A/G] NM_004958 MTOR EXON Silent rs74387646 1 11168428 [T/C] NM_004958 MTOR Silent exm14273 1 11169379 [T/C] NM_004958 MTOR EXON Missense_Q2499R 1:11169775-CT 1 11169775 [T/C] NM_004958 MTOR EXON Missense_G2460S rs17036350 1 11171226 [T/C] NM_004958 MTOR Silent ilmnseq_rs878855328 1 11177096 [T/C] NM_004958 MTOR EXON Missense_M2327I ilmnseq_rs878855328_ilmndup1 1 11177096 [T/C] NM_004958 MTOR EXON Missense_M2327I rs79171074 1 11182898 [A/C] NM_004958 MTOR Silent 1:11186804-CT 1 11186804 [T/C] NM_004958 MTOR EXON Missense_R2134Q 1:11187767-CT 1 11187767 [T/C] NM_004958 MTOR EXON Missense_V2044M exm14325 1 11189856 [T/C] NM_004958 MTOR EXON Missense_V1885I exm14333 1 11190698 [A/G] NM_004958 MTOR EXON Missense_T1834M IlmnSeq_rs863225264 1 11190804 [T/C] NM_004958 MTOR EXON Missense_E1799K 1:11190824-GA 1 11190824 [A/G] NM_004958 MTOR EXON Missense_A1792V rs12732063 1 11191232 [A/G] NM_004958 MTOR Silent rs192686659 1 11192957 [T/C] NM_004958 MTOR Silent 1KG_1_11193226 1 11193226 [D/I] NM_004958 MTOR EXON JHU_1.11193407 1 11193408 [T/C] NM_004958 MTOR Silent exm2249614 1 11194410 [T/G] NM_004958 MTOR EXON Synonymous_A1748A exm14354 1 11194457 [T/C] NM_004958 MTOR EXON Missense_A1733T rs140288227 1 11194467 [A/C] NM_004958 MTOR EXON Missense_Q1729H exm14355 1 11194467 [A/C] NM_004958 MTOR EXON Missense_Q1729H JHU_1.11198994 1 11198995 [T/C] NM_004958 MTOR Silent 1:11199360-CA 1 11199360 [A/C] NM_004958 MTOR Silent JHU_1.11200415 1 11200416 [A/C] NM_004958 MTOR Silent rs1057079 1 11205058 [T/C] NM_004958,NR_046600 MTOR,MTOR-AS1 EXON Synonymous_A1577A,Silent 1:11205072-CA 1 11205072 [A/C] NM_004958,NR_046600 MTOR,MTOR-AS1 EXON Missense_A1573S,Silent rs72647298 1 11206012 [A/G] NM_004958,NR_046600 MTOR,MTOR-AS1 Silent,Silent JHU_1.11207151 1 11207152 [A/C] NM_004958,NR_046600 MTOR,MTOR-AS1 Silent,Silent 1:11207308-T-C 1 11207308 [T/C] NM_004958,NR_046600 MTOR,MTOR-AS1 Silent,Silent rs142063530 1 11207695 [T/C] NM_004958,NR_046600 MTOR,MTOR-AS1 Silent,Silent rs17229200 1 11217006 [C/G] NM_004958 MTOR Silent IlmnSeq_rs786205165 1 11217230 [A/C] NM_004958 MTOR EXON Missense_C1483F 1:11227502-GCT-G 1 11227502 [I/D] NM_004958 MTOR EXON rs77012566 1 11230106 [A/G] NM_004958 MTOR Silent JHU_1.11230628 1 11230629 [A/T] NM_004958 MTOR Silent JHU_1.11233686 1 11233687 [T/C] NM_004958 MTOR Silent JHU_1.11238273 1 11238274 [T/C] NM_004958 MTOR Silent rs114692835 1 11243886 [A/T] NM_004958 MTOR Silent rs12122605 1 11248020 [T/C] NM_004958 MTOR Silent rs28990990 1 11249187 [A/G] NM_004958 MTOR Silent exm14395 1 11249724 [T/A] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_S30T exm14397 1 11249789 [C/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_E51D exm14399 1 11249803 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_V56A exm14405 1 11249980 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_Q115R exm14406 1 11249992 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_T119M exm14409 1 11252357 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_Q136R exm14410 1 11252369 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_R140H exm14417 1 11253684 [T/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_Q175H exm14418 1 11253688 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Nonsense_R177X exm14420 1 11253722 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Nonsense_W188X 1:11253733-AC 1 11253733 [A/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_K192Q exm14425 1 11253817 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_R220C exm14426 1 11253818 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_R220H 1:11255039-CT 1 11255039 [T/C] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_R334W exm14440 1 11255073 [A/G] NM_004958,NM_021146 MTOR,ANGPTL7 EXON Silent,Missense_K345R indel.779 1 11269480 [I/D] NM_004958 MTOR EXON exm14461 1 11272449 [G/C] NM_004958 MTOR EXON Missense_R1161G exm2249658 1 11272468 [C/G] NM_004958 MTOR EXON Synonymous_R1154R 1:11272529-GA 1 11272529 [A/G] NM_004958 MTOR EXON Missense_A1134V 1:11272899-TC 1 11272899 [T/C] NM_004958 MTOR EXON Missense_I1118V rs17374795 1 11273213 [A/G] NM_004958 MTOR Silent 1:11273494-TC 1 11273494 [T/C] NM_004958 MTOR EXON Missense_M1083V JHU_1.11275952 1 11275953 [T/C] NM_004958 MTOR Silent rs74225573 1 11280994 [T/C] NM_004958 MTOR Silent JHU_1.11281951 1 11281952 [T/C] NM_004958 MTOR Silent exm14489 1 11288898 [T/C] NM_004958 MTOR EXON Missense_V953M rs140269225 1 11288898 [T/C] NM_004958 MTOR EXON Missense_V953M rs2076655 1 11289161 [A/G] NM_004958 MTOR Silent JHU_1.11289465 1 11289466 [T/C] NM_004958 MTOR Silent 1:11291033-GA 1 11291033 [A/G] NM_004958 MTOR EXON Missense_R910W 1:11292559-CA 1 11292559 [A/C] NM_004958 MTOR EXON Missense_W816C rs184664470 1 11293791 [A/G] NM_004958 MTOR Silent JHU_1.11296968 1 11296969 [A/G] NM_004958 MTOR Silent exm14511 1 11298052 [A/G] NM_004958 MTOR EXON Missense_H686Y exm14514 1 11298552 [T/C] NM_004958 MTOR EXON Missense_I637V exm14518 1 11298606 [A/G] NM_004958 MTOR EXON Missense_R619C rs55881943 1 11298640 [T/C] NM_004958 MTOR EXON Synonymous_A607A rs78975320 1 11301957 [T/C] NM_004958 MTOR Silent 1:11303288-GA 1 11303288 [A/G] NM_004958 MTOR EXON Missense_A432V exm14544 1 11307762 [T/C] NM_004958 MTOR EXON Missense_N382S exm14548 1 11307941 [A/G] NM_004958 MTOR EXON Missense_P351S exm14550 1 11308007 [T/C] NM_004958 MTOR EXON Missense_A329T JHU_1.11308292 1 11308293 [T/C] NM_004958 MTOR Silent 1:11313905-CA 1 11313905 [A/C] NM_004958 MTOR EXON Missense_M277I 1:11317012-TC 1 11317012 [T/C] NM_004958 MTOR EXON Missense_N161S rs7525957 1 11318236 [T/C] NM_004958 MTOR Silent rs143486315 1 11321858 [G/C] NM_004958 MTOR Silent rs3765904 1 11321864 [T/C] NM_004958 MTOR Silent JHU_1.11322834 1 11322835 [T/C] JHU_1.11324939 1 11324940 [T/C] rs74225576 1 11329421 [A/G] rs115047307 1 11331129 [T/C] exm14600 1 11333812 [T/C] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_S75F,Missense_S75F,Missense_S75F 1:11333893-A-G 1 11333893 [A/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_N102S,Missense_N102S,Missense_N102S 1:11333923-A-G 1 11333923 [A/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_D112G,Missense_D112G,Missense_D112G 1:11333943-A-G 1 11333943 [A/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_R119G,Missense_R119G,Missense_R119G 1:11334027-GA 1 11334027 [A/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_A147T,Missense_A147T,Missense_A147T exm14610 1 11334040 [A/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_Y151C,Missense_Y151C,Missense_Y151C exm14612 1 11334073 [T/C] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_L162P,Missense_L162P,Missense_L162P 1:11334099-T-C 1 11334099 [T/C] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_S171P,Missense_S171P,Missense_S171P 1:11334112-C-T 1 11334112 [T/C] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_T175I,Missense_T175I,Missense_T175I 1:11334117-G-C 1 11334117 [C/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Missense_V177L,Missense_G177R,Missense_G177R JHU_1.11341813 1 11341814 [A/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 Silent,Silent,Silent 1:11345701-G-A 1 11345701 [A/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Silent,Missense_G177E,Missense_G177E 1:11345727-G-A 1 11345727 [A/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Silent,Missense_G186R,Missense_G186R 1:11345866-A-G 1 11345866 [A/G] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Silent,Missense_N232S,Silent 1:11345879-C-G 1 11345879 [G/C] NM_001330350,NM_013319,NM_001330349 UBIAD1,UBIAD1,UBIAD1 EXON Silent,Missense_D236E,Silent JHU_1.11353243 1 11353244 [A/G] NM_001330350,NM_001330349 UBIAD1,UBIAD1 Silent,Silent rs77768358 1 11353244 [A/G] NM_001330350,NM_001330349 UBIAD1,UBIAD1 Silent,Silent rs59431360 1 11359569 [T/C] NM_001330350,NM_001330349 UBIAD1,UBIAD1 EXON Silent,Silent rs2788539 1 11359632 [C/G] rs2788538 1 11359751 [A/G] rs12134340 1 11361065 [A/G] rs12039388 1 11364224 [G/C] JHU_1.11372540 1 11372541 [A/G] JHU_1.11373976 1 11373977 [T/G] rs78319837 1 11378904 [A/G] JHU_1.11383313 1 11383314 [T/C] JHU_1.11384789 1 11384790 [T/C] JHU_1.11385017 1 11385018 [A/T] rs189394767 1 11385447 [A/C] JHU_1.11386329 1 11386330 [A/G] JHU_1.11386505 1 11386506 [A/G] rs72858629 1 11387585 [T/C] JHU_1.11387621 1 11387622 [T/C] rs57259349 1 11388551 [T/C] rs17036666 1 11388733 [T/A] rs2744827 1 11389233 [T/C] JHU_1.11389790 1 11389791 [C/G] rs112356153 1 11391115 [A/G] rs80057811 1 11393406 [G/C] JHU_1.11394973 1 11394974 [G/C] rs2982380 1 11395283 [A/C] exm2259729 1 11395416 [A/G] rs190538178 1 11395820 [A/G] JHU_1.11397958 1 11397959 [T/C] rs116605722 1 11398463 [A/G] rs2788561 1 11399345 [T/C] rs117728367 1 11399533 [T/C] exm2263813 1 11400409 [A/C] JHU_1.11400566 1 11400567 [G/C] rs115677042 1 11400780 [T/C] rs2982384 1 11401745 [A/G] rs58442579 1 11401845 [A/G] rs74535402 1 11402185 [A/G] rs12065495 1 11406448 [G/C] 1:11406831-T-C 1 11406831 [T/C] rs74385057 1 11407540 [A/C] rs72858675 1 11408482 [T/C] rs10864498 1 11409469 [A/G] JHU_1.11410463 1 11410464 [A/G] JHU_1.11412059 1 11412060 [C/G] rs147733141 1 11412256 [A/G] rs2744849 1 11412969 [A/G] rs11121722 1 11414172 [A/G] rs2744854 1 11419868 [T/C] rs116486568 1 11423654 [A/G] rs114768082 1 11426135 [A/G] JHU_1.11427297 1 11427298 [A/G] rs72858698 1 11431484 [C/G] JHU_1.11434732 1 11434733 [A/C] JHU_1.11435636 1 11435637 [A/G] rs2335404 1 11435942 [T/C] JHU_1.11436168 1 11436169 [A/G] JHU_1.11438785 1 11438786 [T/C] rs2788557 1 11439588 [A/G] rs3010208 1 11444975 [T/C] rs58696389 1 11448247 [A/G] rs192731112 1 11448445 [A/G] rs12094886 1 11456536 [A/G] JHU_1.11456590 1 11456591 [A/C] rs79900328 1 11456731 [T/G] rs150996243 1 11465151 [T/C] rs11121727 1 11465290 [A/G] JHU_1.11465289 1 11465290 [A/G] rs116363060 1 11468160 [T/C] rs11121728 1 11468442 [T/C] rs75893750 1 11471556 [A/C] rs17419268 1 11473323 [T/C] rs74053238 1 11474061 [A/G] rs3123599 1 11475114 [A/G] rs11576756 1 11475863 [A/T] rs10864504 1 11476203 [A/G] JHU_1.11482831 1 11482832 [A/G] rs2379145 1 11482833 [T/C] JHU_1.11485301 1 11485302 [T/G] JHU_1.11487215 1 11487216 [A/T] rs2077480 1 11488203 [T/G] JHU_1.11489375 1 11489376 [A/G] rs877309 1 11489678 [A/G] JHU_1.11490436 1 11490437 [A/C] rs79483805 1 11490437 [A/C] JHU_1.11490463 1 11490464 [C/G] JHU_1.11490636 1 11490637 [T/C] JHU_1.11490913 1 11490914 [T/G] rs12133232 1 11492317 [A/G] rs2922240 1 11493832 [T/C] rs151156274 1 11494255 [T/C] rs2379151 1 11494573 [A/G] rs3099624 1 11496994 [T/C] rs3099625 1 11497096 [T/G] rs7414229 1 11498299 [T/C] rs11806225 1 11499286 [T/C] rs143331660 1 11499991 [A/C] JHU_1.11500176 1 11500177 [T/C] rs12132727 1 11500247 [A/T] JHU_1.11500411 1 11500412 [T/C] JHU_1.11501140 1 11501141 [G/C] rs78760069 1 11501190 [T/C] rs3123606 1 11502445 [A/G] JHU_1.11502839 1 11502840 [A/G] rs12146008 1 11502851 [T/C] rs2379156 1 11503660 [T/G] rs2379159 1 11504514 [T/C] JHU_1.11505113 1 11505114 [T/C] rs72861676 1 11505498 [T/G] JHU_1.11508537 1 11508538 [A/G] JHU_1.11508727 1 11508728 [A/G] rs187639341 1 11509237 [T/C] 1:11509986-A-T 1 11509986 [T/A] rs3003916 1 11510014 [T/C] rs118190329 1 11511707 [A/C] rs729536 1 11512291 [C/G] JHU_1.11512290 1 11512291 [C/G] rs6703959 1 11516244 [G/C] rs12026602 1 11518397 [T/C] rs12144893 1 11519217 [A/G] rs143825248 1 11519239 [T/C] rs2379161 1 11519780 [A/T] rs11121742 1 11520653 [T/G] rs12046038 1 11525533 [A/G] rs6695138 1 11526276 [A/G] rs11799568 1 11526514 [A/G] JHU_1.11530382 1 11530383 [A/G] rs10159458 1 11534053 [A/C] rs11121748 1 11534542 [A/G] rs80114831 1 11538249 [T/C] JHU_1.11538532 1 11538533 [T/C] rs72863271 1 11539788 [T/C] NM_020780 DISP3 Silent rs7555562 1 11542957 [A/C] NM_020780 DISP3 Silent rs12030427 1 11545278 [A/G] NM_020780 DISP3 Silent rs2890084 1 11545846 [T/G] NM_020780 DISP3 Silent JHU_1.11548093 1 11548094 [T/C] NM_020780 DISP3 Silent JHU_1.11550631 1 11550632 [G/C] NM_020780 DISP3 Silent rs141756163 1 11551485 [T/C] NM_020780 DISP3 Silent rs114065054 1 11553307 [T/C] NM_020780 DISP3 Silent JHU_1.11553381 1 11553382 [A/G] NM_020780 DISP3 Silent rs7534208 1 11554687 [T/C] NM_020780 DISP3 Silent rs75608508 1 11559521 [T/C] NM_020780 DISP3 Silent exm14628 1 11561057 [T/C] NM_020780 DISP3 EXON Missense_T3M exm14629 1 11561065 [C/G] NM_020780 DISP3 EXON Missense_D6H exm14630 1 11561093 [A/C] NM_020780 DISP3 EXON Missense_E15A exm14634 1 11561164 [A/G] NM_020780 DISP3 EXON Missense_G39R exm14637 1 11561200 [G/C] NM_020780 DISP3 EXON Missense_L51V exm14638 1 11561204 [T/C] NM_020780 DISP3 EXON Missense_A52V exm14646 1 11561489 [T/C] NM_020780 DISP3 EXON Missense_T147M 1:11561630-AG 1 11561630 [A/G] NM_020780 DISP3 EXON Missense_K194R exm14652 1 11561692 [T/G] NM_020780 DISP3 EXON Missense_A215S exm14655 1 11561828 [C/G] NM_020780 DISP3 EXON Missense_R260P 1:11561927-AG 1 11561927 [A/G] NM_020780 DISP3 EXON Missense_E293G rs12144924 1 11561937 [T/C] NM_020780 DISP3 EXON Synonymous_V296V 1:11562001-CA 1 11562001 [A/C] NM_020780 DISP3 EXON Missense_P318T rs2076465 1 11562276 [T/C] NM_020780 DISP3 Silent 1:11562894-GA 1 11562894 [A/G] NM_020780 DISP3 EXON Missense_R419Q rs72863299 1 11564744 [T/C] NM_020780 DISP3 Silent rs61664585 1 11569821 [A/G] NM_020780 DISP3 Silent rs2745265 1 11574942 [T/C] NM_020780 DISP3 Silent exm14681 1 11576094 [A/G] NM_020780 DISP3 EXON Missense_R542H exm14690 1 11577529 [A/G] NM_020780 DISP3 EXON Missense_V587I 1:11577583-GA 1 11577583 [A/G] NM_020780 DISP3 EXON Missense_V605M 1:11579468-CT 1 11579468 [T/C] NM_020780 DISP3 EXON Missense_A649V exm14698 1 11579470 [A/G] NM_020780 DISP3 EXON Missense_A650T exm14699 1 11579471 [T/C] NM_020780 DISP3 EXON Missense_A650V 1:11522783_11522784ins 1 11582840 [I/D] NM_020780 DISP3 1:11584065-GA 1 11584065 [A/G] NM_020780 DISP3 EXON Missense_R810Q rs2076469 1 11584164 [A/G] NM_020780 DISP3 Silent JHU_1.11585138 1 11585139 [T/G] NM_020780 DISP3 Silent exm14731 1 11585308 [T/C] NM_020780 DISP3 EXON Missense_A851V JHU_1.11585731 1 11585732 [A/G] NM_020780 DISP3 Silent 1:11586834-CT 1 11586834 [T/C] NM_020780 DISP3 EXON Missense_R914W JHU_1.11586995 1 11586996 [T/C] NM_020780 DISP3 Silent 1:11589665-AG 1 11589665 [A/G] NM_020780 DISP3 EXON Missense_M951V 1:11589888-GA 1 11589888 [A/G] NM_020780 DISP3 EXON Missense_V992M exm14760 1 11589895 [T/C] NM_020780 DISP3 EXON Missense_T994M 1:11589942-AG 1 11589942 [A/G] NM_020780 DISP3 EXON Missense_M1010V exm2230861 1 11589972 [A/G] NM_020780 DISP3 EXON Missense_V1020I 1:11589978-CT 1 11589978 [T/C] NM_020780 DISP3 EXON Missense_R1022C exm14764 1 11589979 [A/G] NM_020780 DISP3 EXON Missense_R1022H exm14766 1 11590016 [A/G] NM_020780 DISP3 EXON Synonymous_P1034P JHU_1.11593639 1 11593640 [A/G] NM_020780 DISP3 Silent rs34784547 1 11593676 [T/C] NM_020780 DISP3 Silent JHU_1.11593801 1 11593802 [A/G] NM_020780 DISP3 Silent 1:11594461-CT 1 11594461 [T/C] NM_020780 DISP3 EXON Synonymous_S1133S 1:11594494-GA 1 11594494 [A/G] NM_020780 DISP3 EXON Synonymous_E1144E 1:11594563-CT 1 11594563 [T/C] NM_020780 DISP3 EXON Synonymous_C1167C exm14790 1 11594594 [A/G] NM_020780 DISP3 EXON Missense_V1178I 1:11594930-GA 1 11594930 [A/G] NM_020780 DISP3 Silent 1:11595087-CT 1 11595087 [T/C] NM_020780 DISP3 EXON Synonymous_C1185C 1:11595123-GA 1 11595123 [A/G] NM_020780 DISP3 EXON Synonymous_A1197A rs2235660 1 11595331 [A/G] NM_020780 DISP3 Silent rs2745296 1 11595390 [T/C] NM_020780 DISP3 Silent 1:11595572-CT 1 11595572 [T/C] NM_020780 DISP3 EXON Synonymous_S1229S 1:11595642-GA 1 11595642 [A/G] NM_020780 DISP3 EXON Missense_V1253I exm2249707 1 11595659 [T/C] NM_020780 DISP3 EXON Synonymous_G1258G 1:11595683-G-GC 1 11595683 [D/I] NM_020780 DISP3 EXON 1:11596438-GT 1 11596438 [T/G] NM_020780 DISP3 EXON Missense_A1292S rs2594310 1 11596455 [T/C] NM_020780 DISP3 EXON Synonymous_A1297A 1:11596500-CT 1 11596500 [T/C] NM_020780 DISP3 EXON Synonymous_I1312I 1:11596545-CT 1 11596545 [T/C] NM_020780 DISP3 EXON Synonymous_G1327G 1:11596578-CT 1 11596578 [T/C] NM_020780 DISP3 EXON Synonymous_T1338T 1:11596629-CT 1 11596629 [T/C] NM_020780 DISP3 EXON Synonymous_S1355S 1:11596689-CT 1 11596689 [T/C] NM_020780 DISP3 EXON Synonymous_L1375L 1:11596706-GA 1 11596706 [A/G] NM_020780 DISP3 EXON Missense_G1381D rs140690379 1 11597120 [T/C] NM_020780 DISP3 EXON Silent rs2817627 1 11598168 [G/C] rs182227275 1 11598536 [T/C] rs2817626 1 11598670 [T/G] rs117764168 1 11600796 [A/G] rs2817619 1 11603063 [T/C] rs2745291 1 11607932 [A/G] JHU_1.11611001 1 11611002 [T/A] rs12566313 1 11616351 [C/G] JHU_1.11617736 1 11617737 [T/G] rs2817596 1 11618309 [T/C] rs117119235 1 11618414 [T/C] rs150745520 1 11618575 [C/G] rs114320238 1 11619115 [A/G] JHU_1.11619126 1 11619127 [T/C] rs199703381 1 11619602 [A/C] rs12086490 1 11619933 [T/C] rs117218214 1 11620901 [A/G] rs2745285 1 11626858 [T/C] rs6674614 1 11628009 [T/C] JHU_1.11628331 1 11628332 [T/C] rs74386802 1 11629657 [T/C] JHU_1.11630681 1 11630682 [T/C] JHU_1.11631001 1 11631002 [A/G] JHU_1.11637488 1 11637489 [T/C] rs150971555 1 11637674 [A/C] rs6698664 1 11638084 [A/G] rs2745276 1 11641283 [A/G] rs74675989 1 11641581 [A/G] rs4846014 1 11643946 [G/C] rs2817642 1 11644173 [T/C] rs74055132 1 11644223 [T/C] rs61773881 1 11646590 [T/C] rs76749194 1 11646932 [T/C] rs2745274 1 11647129 [T/C] rs72636845 1 11649468 [T/G] rs72636847 1 11649886 [A/G] JHU_1.11650084 1 11650085 [T/C] rs115757493 1 11650338 [T/C] rs150594271 1 11652395 [A/C] rs139539909 1 11653745 [A/G] rs117899546 1 11654321 [T/G] rs7530509 1 11654491 [A/G] rs4364885 1 11655069 [A/G] rs117236547 1 11655400 [T/C] rs761087 1 11656684 [A/G] rs1320986 1 11659375 [A/G] rs78131770 1 11659516 [G/C] rs761084 1 11660710 [T/C] rs12120425 1 11662826 [T/C] rs118146725 1 11662889 [A/G] JHU_1.11664212 1 11664213 [T/C] rs4846019 1 11665575 [A/G] rs57167799 1 11665988 [A/G] rs74225596 1 11667284 [T/A] JHU_1.11668034 1 11668035 [T/G] JHU_1.11670449 1 11670450 [A/G] NR_104624 LINC01647 Silent rs36126289 1 11671064 [C/G] NR_104624 LINC01647 Silent rs117404278 1 11672066 [A/G] NR_104624 LINC01647 Silent JHU_1.11672088 1 11672089 [T/C] NR_104624 LINC01647 Silent rs734737 1 11675059 [T/G] rs143258020 1 11675238 [T/C] rs72868048 1 11678124 [A/G] rs761092 1 11678195 [A/G] JHU_1.11679762 1 11679763 [A/G] rs7550768 1 11680283 [T/C] rs11121783 1 11685967 [T/C] JHU_1.11686553 1 11686554 [A/G] rs77031870 1 11686554 [A/G] rs72868067 1 11688742 [T/C] rs80112965 1 11690369 [A/G] rs10779763 1 11690766 [A/C] rs114151847 1 11692941 [A/C] JHU_1.11694853 1 11694854 [A/G] JHU_1.11694929 1 11694930 [A/G] JHU_1.11694933 1 11694934 [G/C] rs10864530 1 11696836 [A/C] rs6671295 1 11698902 [A/G] rs185016983 1 11700520 [A/G] JHU_1.11700582 1 11700583 [A/T] rs147108899 1 11702208 [A/G] rs76259356 1 11702697 [C/G] rs6540987 1 11703843 [A/G] rs145342115 1 11706407 [T/C] rs72638614 1 11706478 [A/C] exm2230873 1 11709222 [A/C] NM_012168 FBXO2 EXON Missense_E226D 1:11709224-CT 1 11709224 [T/C] NM_012168 FBXO2 EXON Missense_E226K exm14843 1 11709892 [A/C] NM_012168 FBXO2 EXON Missense_E187D rs72869709 1 11710221 [G/C] NM_012168 FBXO2 Silent 1:11710622-CA 1 11710622 [A/C] NM_012168 FBXO2 EXON Missense_V98L 1:11710798-TG 1 11710798 [T/G] NM_012168 FBXO2 EXON Missense_E39A 1:11710864-CA 1 11710864 [A/C] NM_012168 FBXO2 EXON Missense_S17I 1:11710874-CA 1 11710874 [A/C] NM_012168 FBXO2 EXON Nonsense_E14X JHU_1.11711175 1 11711176 [T/G] NM_012168 FBXO2 Silent JHU_1.11711207 1 11711208 [A/G] NM_012168 FBXO2 Silent JHU_1.11713010 1 11713011 [A/G] NM_012168 FBXO2 Silent JHU_1.11713613 1 11713614 [G/C] NM_012168 FBXO2 Silent rs147180629 1 11715408 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent Variant21 1 11715754 [D/I] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON chr1_11715896 1 11715896 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_A2T,Missense_A2T,Missense_A2T,Silent,Missense_A2T,Missense_A2T,Missense_A2T,Missense_A2T exm14890 1 11716146 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_P85L,Missense_P85L,Missense_P85L,Silent,Missense_P85L,Missense_P85L,Missense_P85L,Missense_P85L rs12139487 1 11717300 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9430202 1 11717884 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm14893 1 11718390 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_R111Q,Missense_R111Q,Missense_R111Q,Silent,Missense_R111Q,Missense_R111Q,Missense_R111Q,Missense_R111Q 1:11718626-CT 1 11718626 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_A143A,Silent,Synonymous_A143A,Silent,Synonymous_A143A,Nonsense_R134X,Silent,Silent 1:11718627-GA 1 11718627 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_E144K,Silent,Missense_E144K,Silent,Missense_E144K,Missense_R134Q,Silent,Silent Variant37675 1 11718671 [A/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_I158I,Silent,Synonymous_I158I,Silent,Synonymous_I158I,Synonymous_R149R,Silent,Silent exm14902 1 11718797 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_A165T,Missense_R123H,Missense_A165T,Silent,Missense_A165T,Missense_R155H,Missense_R123H,Missense_R123H 1:11718814-CT 1 11718814 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_C170C,Missense_R129W,Synonymous_C170C,Silent,Synonymous_C170C,Missense_R161W,Missense_R129W,Missense_R129W exm14903 1 11718819 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_S172F,Synonymous_V130V,Missense_S172F,Silent,Missense_S172F,Synonymous_V162V,Synonymous_V130V,Synonymous_V130V 1:11718832-GA 1 11718832 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_L176L,Missense_V135M,Synonymous_L176L,Silent,Synonymous_L176L,Missense_V167M,Missense_V135M,Missense_V135M exm14906 1 11718859 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_H185H,Missense_R144C,Synonymous_H185H,Silent,Synonymous_H185H,Missense_R176C,Missense_R144C,Missense_R144C exm14907 1 11718861 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_A186V,Synonymous_R144R,Missense_A186V,Silent,Missense_A186V,Synonymous_R176R,Synonymous_R144R,Synonymous_R144R exm14909 1 11718907 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_K201K,Missense_E160K,Synonymous_K201K,Silent,Synonymous_K201K,Missense_E192K,Missense_E160K,Missense_E160K rs58092895 1 11720582 [G/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm14912 1 11721213 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_P217P,Missense_A176T,Synonymous_P217P,Silent,Synonymous_P217P,Missense_A208T,Missense_A176T,Missense_A176T exm1703362 1 11721271 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_G237S,Missense_R195Q,Missense_G237S,Silent,Missense_G237S,Missense_R227Q,Missense_R195Q,Missense_R195Q exm14924 1 11721315 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_G251G,Missense_A210T,Synonymous_G251G,Silent,Synonymous_G251G,Missense_A242T,Missense_A210T,Missense_A210T exm14925 1 11721320 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_P253L,Synonymous_P211P,Missense_P253L,Silent,Missense_P253L,Synonymous_P243P,Synonymous_P211P,Synonymous_P211P rs2294641 1 11721854 [T/C] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3125815 1 11722688 [A/G] NM_001304791,NM_183412,NM_001014765,NR_130909,NM_033182,NM_001330355,NM_183413,NM_001304790 FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44,FBXO44 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3820340 1 11723520 [A/G] JHU_1.11727255 1 11727256 [T/C] NM_018438 FBXO6 Silent rs7513972 1 11728675 [T/C] NM_018438 FBXO6 Silent 1:11728894-GA 1 11728894 [A/G] NM_018438 FBXO6 EXON Missense_R60Q exm14950 1 11731365 [A/G] NM_018438 FBXO6 EXON Missense_R110H exm14953 1 11732050 [T/C] NM_018438 FBXO6 EXON Missense_T160I rs28926170 1 11732684 [T/C] NM_018438 FBXO6 Silent rs28926169 1 11732733 [T/C] NM_018438 FBXO6 Silent exm2230883 1 11733425 [A/C] NM_018438 FBXO6 EXON Missense_P201T exm14967 1 11733700 [A/G] NM_018438 FBXO6 EXON Missense_R225Q exm14972 1 11733799 [A/G] NM_018438 FBXO6 EXON Missense_S258N exm14973 1 11733801 [A/C] NM_018438 FBXO6 EXON Missense_P259T exm14976 1 11733846 [A/C] NM_018438 FBXO6 EXON Missense_Q274K exm14979 1 11733894 [A/G] NM_018438 FBXO6 EXON Missense_V290I 1:11735152-GA 1 11735152 [A/G] NM_006341,NM_001127325 MAD2L2,MAD2L2 EXON Missense_S194L,Missense_S194L 1:11735179-CT 1 11735179 [T/C] NM_006341,NM_001127325 MAD2L2,MAD2L2 EXON Missense_R185Q,Missense_R185Q rs2233025 1 11735652 [A/G] NM_006341,NM_001127325 MAD2L2,MAD2L2 Silent,Silent rs2336030 1 11736600 [T/C] NM_006341,NM_001127325 MAD2L2,MAD2L2 Silent,Silent 1:11736864-AC 1 11736864 [A/C] NM_006341,NM_001127325 MAD2L2,MAD2L2 Silent,Silent exm15012 1 11736959 [T/C] NM_006341,NM_001127325 MAD2L2,MAD2L2 EXON Missense_R93H,Missense_R93H rs28924102 1 11738806 [A/C] NM_006341,NM_001127325 MAD2L2,MAD2L2 Silent,Silent JHU_1.11740053 1 11740054 [T/G] NM_006341,NM_001127325 MAD2L2,MAD2L2 Silent,Silent 1:11740542-CA 1 11740542 [A/C] NM_006341,NM_001127325 MAD2L2,MAD2L2 Silent,Silent JHU_1.11741589 1 11741590 [T/C] NM_001127325 MAD2L2 Silent rs2233004 1 11742074 [T/C] NM_001127325 MAD2L2 Silent rs11121796 1 11744797 [A/G] NM_001127325 MAD2L2 Silent JHU_1.11744970 1 11744971 [T/C] NM_001127325 MAD2L2 Silent JHU_1.11745458 1 11745459 [A/G] NM_001127325 MAD2L2 Silent JHU_1.11746429 1 11746430 [A/G] NM_001127325 MAD2L2 Silent JHU_1.11746876 1 11746877 [A/C] NM_001127325 MAD2L2 Silent rs72869758 1 11747904 [T/C] NM_001127325 MAD2L2 Silent rs6658345 1 11749957 [A/C] NM_001127325 MAD2L2 Silent rs6679089 1 11752140 [A/G] NM_198545 DRAXIN Silent JHU_1.11753780 1 11753781 [A/C] NM_198545 DRAXIN Silent JHU_1.11753813 1 11753814 [T/C] NM_198545 DRAXIN Silent rs7539455 1 11754168 [T/G] NM_198545 DRAXIN Silent rs12133335 1 11758550 [A/G] NM_198545 DRAXIN Silent rs1534991 1 11761252 [T/C] NM_198545 DRAXIN Silent rs60536251 1 11761586 [T/C] NM_198545 DRAXIN Silent JHU_1.11762512 1 11762513 [A/G] NM_198545 DRAXIN Silent JHU_1.11762573 1 11762574 [A/C] NM_198545 DRAXIN Silent rs9430624 1 11763677 [A/G] NM_198545 DRAXIN Silent 1:11766329-CT 1 11766329 [T/C] NM_198545 DRAXIN EXON Missense_A5V 1:11766395-CT 1 11766395 [T/C] NM_198545 DRAXIN EXON Missense_A27V rs12132907 1 11766889 [A/G] NM_198545 DRAXIN Silent rs12134785 1 11767938 [T/C] NM_198545 DRAXIN Silent 1:11769385-GA 1 11769385 [A/G] NM_198545 DRAXIN EXON Missense_E169K exm15079 1 11769515 [A/G] NM_198545 DRAXIN EXON Missense_R212Q rs12085723 1 11770557 [A/G] NM_198545 DRAXIN Silent rs55852125 1 11771521 [A/G] NM_198545 DRAXIN Silent exm15080 1 11771906 [A/T] NM_198545 DRAXIN Silent exm15081 1 11771907 [C/G] NM_198545 DRAXIN Silent exm15082 1 11771929 [A/G] NM_198545 DRAXIN EXON Missense_G222R exm15086 1 11771999 [A/G] NM_198545 DRAXIN EXON Missense_G245D exm15091 1 11772411 [A/G] NM_198545 DRAXIN EXON Missense_K258E Variant37679 1 11772461 [T/C] NM_198545 DRAXIN EXON Synonymous_C274C rs9430631 1 11774956 [T/C] NM_198545 DRAXIN Silent exm15106 1 11775178 [T/A] NM_198545 DRAXIN EXON Missense_T284S 1:11775194-GA 1 11775194 [A/G] NM_198545 DRAXIN EXON Missense_R289Q JHU_1.11779306 1 11779307 [T/C] NM_198545 DRAXIN Silent 1:11779718-GA 1 11779718 [A/G] NM_198545 DRAXIN EXON Missense_A339T rs12117076 1 11779762 [T/C] NM_198545 DRAXIN EXON Silent rs12735660 1 11781134 [G/C] JHU_1.11782216 1 11782217 [C/G] rs7533583 1 11782781 [G/C] rs4846029 1 11783484 [T/G] rs77094650 1 11784007 [A/C] rs76200833 1 11784967 [T/C] exm-rs4846033 1 11788564 [A/G] rs115704035 1 11790094 [A/G] JHU_1.11790385 1 11790386 [A/C] rs74541046 1 11790925 [T/C] rs12743892 1 11791890 [A/G] rs72872060 1 11793390 [A/C] JHU_1.11793673 1 11793674 [T/G] JHU_1.11796507 1 11796508 [T/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent rs375674206 1 11796963 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent JHU_1.11797029 1 11797030 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent JHU_1.11797156 1 11797157 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent JHU_1.11797233 1 11797234 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent rs6419478 1 11798812 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent rs6540992 1 11799228 [T/A] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent rs17875920 1 11801023 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent rs4073489 1 11801642 [A/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent JHU_1.11804321 1 11804322 [A/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent 1:11804590-TG 1 11804590 [T/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent 1:11806221-AG 1 11806221 [A/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_T34A,Silent,Silent,Silent,Missense_T34A rs12752700 1 11807426 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent 1:11807541-CT 1 11807541 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Synonymous_H68H,Missense_T36I,Synonymous_H24H,Missense_T36I,Synonymous_H68H exm15144 1 11807576 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_A80V,Missense_R48W,Missense_A36V,Missense_R48W,Missense_A80V exm15146 1 11807600 [A/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_H88R,Missense_M56V,Missense_H44R,Missense_M56V,Missense_H88R JHU_1.11807614 1 11807615 [C/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent exm15152 1 11808550 [A/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_G115E,Missense_D83N,Missense_G71E,Missense_D83N,Missense_G115E exm15153 1 11808560 [A/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Synonymous_P118P,Missense_R86H,Synonymous_P74P,Missense_R86H,Synonymous_P118P exm15156 1 11808602 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Synonymous_A132A,Missense_P100L,Synonymous_A88A,Missense_P100L,Synonymous_A132A 1:11808640-CT 1 11808640 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_A145V,Missense_R113C,Missense_A101V,Missense_R113C,Missense_A145V rs17875957 1 11809693 [C/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP Silent,Silent,Silent,Silent,Silent variant.827 1 11810151 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_S153L,Nonsense_Q128X,Missense_S109L,Nonsense_Q121X,Silent exm15168 1 11810197 [T/C] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Missense_A143V,Silent,Missense_A136V,Silent 1:11810275-GA 1 11810275 [A/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Silent,Silent,Silent,Silent 1:11810282-GT 1 11810282 [T/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Silent,Silent,Silent,Silent rs1128059 1 11810674 [A/G] NM_001040196,NM_020350,NM_001040195,NM_001040194,NM_001040197 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Silent,Silent,Silent,Silent rs17875974 1 11812331 [A/G] JHU_1.11816859 1 11816860 [A/G] JHU_1.11817431 1 11817432 [A/G] rs74826525 1 11821997 [C/G] Variant37680 1 11822004 [T/C] chr1_11822030 1 11822030 [T/C] 1:11822198-CT 1 11822198 [T/C] chr1_11822210 1 11822210 [A/C] JHU_1.11822594 1 11822595 [T/G] NM_001010881 C1orf167 Silent JHU_1.11823005 1 11823006 [T/C] NM_001010881 C1orf167 Silent JHU_1.11823155 1 11823156 [A/G] NM_001010881 C1orf167 Silent JHU_1.11823517 1 11823518 [T/G] NM_001010881 C1orf167 Silent JHU_1.11824259 1 11824260 [T/C] NM_001010881 C1orf167 Silent rs4845877 1 11824303 [T/C] NM_001010881 C1orf167 Silent 1:11824477-CT 1 11824477 [T/C] NM_001010881 C1orf167 EXON Missense_A7V rs12564559 1 11825544 [T/C] NM_001010881 C1orf167 Silent 1:11825979-GA 1 11825979 [A/G] NM_001010881 C1orf167 EXON Missense_G46R 1:11826085-GA 1 11826085 [A/G] NM_001010881 C1orf167 EXON Missense_R81H 1:11826175-GA 1 11826175 [A/G] NM_001010881 C1orf167 EXON Missense_R111H 1:11826265-GA 1 11826265 [A/G] NM_001010881 C1orf167 EXON Missense_G141E 1:11826282-AG 1 11826282 [A/G] NM_001010881 C1orf167 EXON Missense_K147E 1:11826442-CA 1 11826442 [A/C] NM_001010881 C1orf167 EXON Missense_S200Y 1:11826601-GA 1 11826601 [A/G] NM_001010881 C1orf167 EXON Missense_R253Q rs192396656 1 11826871 [A/C] NM_001010881 C1orf167 EXON Missense_Q343P 1:11827309-CT 1 11827309 [T/C] NM_001010881 C1orf167 EXON Missense_S444F Variant37682 1 11828159 [T/C] NM_001010881 C1orf167 EXON Nonsense_R457X 1:11828238-GA 1 11828238 [A/G] NM_001010881 C1orf167 EXON Missense_R483Q chr1_11828306 1 11828306 [A/G] NM_001010881 C1orf167 EXON Missense_V506I rs4845881 1 11828319 [A/G] NM_001010881 C1orf167 EXON Missense_R510Q chr1_11828327 1 11828327 [T/C] NM_001010881 C1orf167 EXON Nonsense_R513X JHU_1.11830036 1 11830037 [A/G] NM_001010881 C1orf167 Silent JHU_1.11830179 1 11830180 [A/T] NM_001010881 C1orf167 Silent 1:11831595-GA 1 11831595 [A/G] NM_001010881 C1orf167 EXON Missense_R571K 1:11831615-CT 1 11831615 [T/C] NM_001010881 C1orf167 EXON Missense_R578W Variant37683 1 11831657 [T/G] NM_001010881 C1orf167 EXON Nonsense_E592X 1:11835556-CT 1 11835556 [T/C] NM_001010881 C1orf167 EXON Missense_R685C rs12132479 1 11836450 [A/G] NM_001010881 C1orf167 Silent 1:11836524-GA 1 11836524 [A/G] NM_001010881 C1orf167 EXON Missense_R723H 1:11836628-TC 1 11836628 [T/C] NM_001010881 C1orf167 EXON Missense_W758R 1:11836682-CT 1 11836682 [T/C] NM_001010881 C1orf167 EXON Missense_R776C rs4846042 1 11837299 [A/C] NM_001010881,NR_126000 C1orf167,LOC102724659 EXON Silent,Silent JHU_1.11837704 1 11837705 [A/G] NM_001010881,NR_126000 C1orf167,LOC102724659 EXON Silent,Silent 1:11838841-AG 1 11838841 [A/G] NM_001010881,NR_126000 C1orf167,LOC102724659 EXON Missense_S822G,Silent 1:11838996-CA 1 11838996 [A/C] NM_001010881,NR_126000 C1orf167,LOC102724659 EXON Missense_P837H,Silent 1:11839033-GT 1 11839033 [T/G] NM_001010881,NR_126000 C1orf167,LOC102724659 EXON Missense_W849C,Silent 1:11839034-GA 1 11839034 [A/G] NM_001010881,NR_126000 C1orf167,LOC102724659 EXON Missense_A850T,Silent 1:11839895-AG 1 11839895 [A/G] NM_001010881 C1orf167 EXON Synonymous_Q896Q 1:11839923-CT 1 11839923 [T/C] NM_001010881 C1orf167 EXON Missense_R906W 1:11839998-TC 1 11839998 [T/C] NM_001010881 C1orf167 EXON Missense_W931R 1:11840043-TC 1 11840043 [T/C] NM_001010881 C1orf167 EXON Missense_C946R chr1_11842320 1 11842320 [T/C] NM_001010881 C1orf167 EXON Missense_R979W chr1_11844266 1 11844266 [T/C] NM_001010881 C1orf167 EXON Missense_T1014M Variant37684 1 11844289 [T/C] NM_001010881 C1orf167 EXON Nonsense_Q1022X 1:11844386-GA 1 11844386 [A/G] NM_001010881 C1orf167 EXON Missense_R1054H 1:11844424-GA 1 11844424 [A/G] NM_001010881 C1orf167 EXON Missense_G1067R 1:11844520-CT 1 11844520 [T/C] NM_001010881 C1orf167 EXON Nonsense_Q1099X rs4846048 1 11846252 [A/G] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Silent,Silent,Silent 1:11847449-GA 1 11847449 [A/G] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Missense_R1191H,Silent,Silent 1:11847517-CT 1 11847517 [T/C] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Missense_R1214W,Silent,Silent 1:11847932-TC 1 11847932 [T/C] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Missense_C1226R,Silent,Silent 1:11847986-CA 1 11847986 [A/C] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Missense_Q1244K,Silent,Silent Variant37686 1 11848054 [T/C] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Synonymous_P1266P,Silent,Silent 1:11848068-G-C 1 11848068 [C/G] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Missense_C1271S,Silent,Silent 1:11848292-GA 1 11848292 [A/G] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Missense_G1312D,Silent,Silent 1:11848350-GA 1 11848350 [A/G] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Synonymous_A1331A,Silent,Silent 1:11848754-CT 1 11848754 [T/C] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Missense_A1375V,Silent,Silent 1:11849370-GA 1 11849370 [A/G] NM_001010881,NM_005957,NM_001330358 C1orf167,MTHFR,MTHFR EXON Missense_R1406K,Silent,Silent JHU_1.11850193 1 11850194 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Silent,Silent 1:11850365-T-G 1 11850365 [T/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Silent,Silent exm15227 1 11850750 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_T653M,Missense_T694M 1:11850776-GT 1 11850776 [T/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_N644K,Missense_N685K chr1_11850876 1 11850876 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_Y611C,Missense_Y652C exm15236 1 11850927 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R594Q,Missense_R635Q 1:11851296-CT 1 11851296 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_V574I,Missense_V615I exm2249735 1 11851297 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Synonymous_T573T,Synonymous_T614T Variant47955 1 11851301 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_P572L,Missense_P613L Variant47956 1 11851317 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Nonsense_R567X,Nonsense_R608X rs6700268 1 11851950 [G/C] NM_005957,NM_001330358 MTHFR,MTHFR Silent,Silent rs1476413 1 11852300 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR Silent,Silent Variant47957 1 11852363 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R535Q,Missense_R576Q Variant47958 1 11852364 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R535W,Missense_R576W exm15254 1 11852411 [A/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R519L,Missense_R560L rs45496998 1 11852412 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R519C,Missense_R560C exm15255 1 11852412 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R519C,Missense_R560C Variant47959 1 11853964 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Synonymous_K510K,Synonymous_K551K rs116620395 1 11853994 [G/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_W500C,Missense_W541C exm15263 1 11854085 [T/A] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_E470V,Missense_E511V exm15264 1 11854086 [C/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_E470Q,Missense_E511Q exm15270 1 11854429 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R445W,Missense_R486W Variant47960 1 11854443 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_S440L,Missense_S481L 1:11854457-G-A 1 11854457 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Synonymous_F435F,Synonymous_F476F rs4846051 1 11854457 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Synonymous_F435F,Synonymous_F476F 1:11854476-TG 1 11854476 [T/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_E429A,Missense_E470A rs1801131 1 11854476 [T/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_E429A,Missense_E470A rs1801131_ilmndup2 1 11854476 [T/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_E429A,Missense_E470A rs45571736 1 11854498 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_G422R,Missense_G463R rs200137991 1 11854500 [A/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_W421L,Missense_W462L exm15285 1 11854790 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R388C,Missense_R429C newrs121434296 1 11854823 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R377C,Missense_R418C rs121434296 1 11854823 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R377C,Missense_R418C Variant47962 1 11854880 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Nonsense_R358X,Nonsense_R399X Variant47963 1 11855173 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_M338T,Missense_M379T ilmnseq_rs543016186 1 11855182 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R335H,Missense_R376H Variant47964 1 11855183 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R335C,Missense_R376C Variant47965 1 11855213 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R325C,Missense_R366C Variant47966 1 11855218 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_L323P,Missense_L364P rs121434297 1 11855218 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_L323P,Missense_L364P exm15298 1 11855279 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_V303M,Missense_V344M 1:11855318-TC 1 11855318 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_N290D,Missense_N331D newrs147750177 1 11855351 [A/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Nonsense_E279X,Nonsense_E320X exm15306 1 11855398 [T/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_H263P,Missense_H304P rs190090719 1 11856328 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_F239L,Missense_F280L 1:11856335-GT 1 11856335 [T/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_F236L,Missense_F277L Variant47967 1 11856363 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_T227M,Missense_T268M exm15318 1 11856370 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_I225V,Missense_I266V exm15319 1 11856376 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_D223N,Missense_D264N rs1801133_ilmndup2 1 11856378 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_A222V,Missense_A263V exm15320 1 11856378 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_A222V,Missense_A263V rs1801133 1 11856378 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_A222V,Missense_A263V rs17421511 1 11857788 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR Silent,Silent 1:11860280-AG 1 11860280 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_I192T,Missense_I233T Variant47970 1 11861223 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R157Q,Missense_R198Q rs121434295 1 11861223 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R157Q,Missense_R198Q exm15334 1 11861298 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R132H,Missense_R173H rs17367504 1 11862778 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR Silent,Silent exm-rs17367504 1 11862778 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR Silent,Silent Variant47973 1 11863019 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R52Q,Missense_R93Q seq-rs201618781 1 11863022 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R51Q,Missense_R92Q exm1704558 1 11863038 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R46W,Missense_R87W rs138189536 1 11863038 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Missense_R46W,Missense_R87W 1:11863483-GA 1 11863483 [A/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Silent,Missense_S30F 1:11863531-TC 1 11863531 [T/C] NM_005957,NM_001330358 MTHFR,MTHFR EXON Silent,Missense_Y14C 1:11863566-GT 1 11863566 [T/G] NM_005957,NM_001330358 MTHFR,MTHFR EXON Silent,Missense_D2E rs3753583 1 11865250 [A/G] NM_005957 MTHFR Silent rs4846054 1 11869230 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent JHU_1.11870240 1 11870241 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent 1:11875979-CA 1 11875979 [A/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent 1:11876673-AG 1 11876673 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_K72R,Missense_K50R,Silent rs198398 1 11883342 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent exm15399 1 11884555 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_E198G,Missense_E176G,Silent rs202066883 1 11886226 [C/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_S221C,Missense_S199C,Silent rs201010581 1 11887210 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_I258V,Missense_I236V,Silent 1:11887227-CT 1 11887227 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Synonymous_F263F,Synonymous_F241F,Silent exm15420 1 11887278 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Synonymous_V280V,Synonymous_V258V,Silent 1:11887280-TA 1 11887280 [T/A] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent rs7537765 1 11887303 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent 1:11888205-CT 1 11888205 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_R295C,Missense_R273C,Silent rs4846058 1 11889154 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent exm1704721 1 11889290 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_V387M,Missense_V365M,Silent rs201349073 1 11889290 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_V387M,Missense_V365M,Silent exm15437 1 11889310 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Synonymous_S393S,Synonymous_S371S,Silent 1KG_1_11893660 1 11893660 [D/I] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON 1:11893969-GT 1 11893969 [T/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_V470F,Missense_V448F,Silent 1:11894009-CT 1 11894009 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_S483F,Missense_S461F,Silent exm15449 1 11894056 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_F499L,Missense_F477L,Silent exm15450 1 11894062 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_R501C,Missense_R479C,Silent rs147341529 1 11894062 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_R501C,Missense_R479C,Silent rs72640263 1 11894263 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent 1:11894544-GA 1 11894544 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_A564T,Missense_A542T,Silent rs201930853 1 11894560 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_D569G,Missense_D547G,Silent exm15466 1 11894592 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_V580M,Missense_V558M,Silent variant.859 1 11894624 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Nonsense_W590X,Nonsense_W568X,Silent 1:11897194-CA 1 11897194 [A/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_Q707K,Missense_Q685K,Silent rs150177184 1 11897203 [A/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_L710M,Missense_L688M,Silent 1:11898444-GA 1 11898444 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_R783Q,Missense_R761Q,Silent chr1_11898601 1 11898601 [T/C] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_P805S,Missense_P783S,Silent 1:11898628-GA 1 11898628 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 EXON Missense_V814I,Missense_V792I,Silent 1:11898789-GT 1 11898789 [T/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent 1:11898859-GA 1 11898859 [A/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent exm-rs1023252 1 11899033 [T/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent rs1023252 1 11899033 [T/G] NM_001286,NM_001256959,NR_046428 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent rs198415 1 11901592 [T/C] NM_001286,NM_001256959,NR_046428,NR_037806 CLCN6,CLCN6,CLCN6,NPPA-AS1 EXON Silent,Silent,Silent,Silent JHU_1.11901693 1 11901694 [A/G] NM_001286,NM_001256959,NR_046428,NR_037806 CLCN6,CLCN6,CLCN6,NPPA-AS1 EXON Silent,Silent,Silent,Silent rs5065 1 11906068 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_X152R exm15531 1 11906068 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_X152R JHU_1.11906980 1 11906981 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA Silent,Silent 1:11907171-CT 1 11907171 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_R150Q 1:11907193-CT 1 11907193 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_G143R exm15541 1 11907328 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_G98R 1:11907341-AC 1 11907341 [A/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_D93E 1:11907348-TC 1 11907348 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_Q91R exm15543 1 11907423 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_P66L exm15544 1 11907424 [T/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_P66T rs61757261 1 11907430 [T/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_S64R exm15545 1 11907430 [T/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_S64R 1:11907439-GA 1 11907439 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Nonsense_Q61X indel.864 1 11907478 [D/I] NR_037806,NM_006172 NPPA-AS1,NPPA EXON 1:11907497-CT 1 11907497 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Silent rs5063 1 11907648 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_V32M exm15552 1 11907648 [T/C] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_V32M exm15554 1 11907659 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_M28T 1:11907740 1 11907740 [A/G] NM_006172 NPPA EXON Missense_M1T JHU_1.11908291 1 11908292 [A/G] JHU_1.11908504 1 11908505 [C/G] rs13305986 1 11908505 [C/G] JHU_1.11908571 1 11908572 [T/C] JHU_1.11909026 1 11909027 [T/C] rs198372 1 11909514 [A/G] rs137980909 1 11914831 [T/C] JHU_1.11917428 1 11917429 [T/C] exm15566 1 11917720 [A/G] NM_002521 NPPB EXON Missense_R133W JHU_1.11918162 1 11918163 [A/C] NM_002521 NPPB Silent 1:11918285-CA 1 11918285 [A/C] NM_002521 NPPB EXON Missense_G125V rs191451400 1 11918303 [T/C] NM_002521 NPPB EXON Missense_R119Q exm15574 1 11918379 [A/C] NM_002521 NPPB EXON Missense_V94F exm15582 1 11918444 [T/C] NM_002521 NPPB EXON Missense_R72H exm15586 1 11918519 [T/C] NM_002521 NPPB EXON Missense_R47H exm15588 1 11918794 [C/G] NM_002521 NPPB EXON Missense_G33R rs198389 1 11919271 [A/G] rs12562819 1 11924027 [A/G] rs79712000 1 11924030 [T/C] rs6676300 1 11925300 [A/G] JHU_1.11925731 1 11925732 [T/C] JHU_1.11925780 1 11925781 [A/G] rs112397571 1 11926748 [T/C] rs12562952 1 11927056 [T/C] rs198382 1 11932542 [T/C] rs79837245 1 11932847 [A/T] JHU_1.11933141 1 11933142 [A/G] rs56674320 1 11934132 [A/G] JHU_1.11934646 1 11934647 [T/C] rs78097221 1 11935443 [A/C] rs9661078 1 11936324 [A/C] rs11804222 1 11936514 [A/G] 1:11937091-G-A 1 11937091 [A/G] rs17037516 1 11937305 [A/G] rs7554327 1 11937404 [T/C] exm2264801 1 11938050 [A/G] JHU_1.11938202 1 11938203 [A/G] rs72864766 1 11938399 [A/G] rs12741980 1 11939593 [A/C] rs61774663 1 11940380 [T/A] rs75035069 1 11941477 [A/C] rs2336395 1 11941484 [T/G] rs115529677 1 11943424 [A/G] rs72640280 1 11943792 [A/G] JHU_1.11945547 1 11945548 [A/G] rs12139365 1 11945695 [T/C] rs6667637 1 11947957 [A/G] JHU_1.11949836 1 11949837 [A/C] rs17037520 1 11952406 [T/C] JHU_1.11954316 1 11954317 [A/C] JHU_1.11955512 1 11955513 [T/C] rs75449514 1 11958654 [A/G] rs12085006 1 11958723 [A/G] rs1999594 1 11959216 [A/G] 1:11961068-C-T 1 11961068 [T/C] rs146473732 1 11962652 [T/G] JHU_1.11964238 1 11964239 [A/T] JHU_1.11964699 1 11964700 [A/C] rs72640287 1 11965792 [T/C] rs11121840 1 11968356 [A/G] JHU_1.11968355 1 11968356 [A/G] rs926269 1 11969748 [T/C] rs142300434 1 11969938 [T/C] rs7554547 1 11973888 [A/G] JHU_1.11979017 1 11979018 [T/A] rs2038028 1 11979556 [A/G] exm15600 1 11980389 [T/C] NM_138346 KIAA2013 EXON Missense_E630K rs115388123 1 11981302 [A/G] NM_138346 KIAA2013 Silent rs78275505 1 11982562 [A/C] NM_138346 KIAA2013 Silent 1:11982580-GA 1 11982580 [A/G] NM_138346 KIAA2013 Silent 1:11982613-CT 1 11982613 [T/C] NM_138346 KIAA2013 Silent 1:11982631-CT 1 11982631 [T/C] NM_138346 KIAA2013 Silent Variant12317 1 11982638 [D/I] NM_138346 KIAA2013 1:11982649-GA 1 11982649 [A/G] NM_138346 KIAA2013 Silent 1:11983155-GT 1 11983155 [T/G] NM_138346 KIAA2013 EXON Missense_D475E chr1_11983420 1 11983420 [A/C] NM_138346 KIAA2013 EXON Missense_R387L exm15657 1 11983517 [C/G] NM_138346 KIAA2013 EXON Missense_H355D exm15661 1 11985288 [A/C] NM_138346 KIAA2013 EXON Missense_L336R JHU_1.11991156 1 11991157 [A/C] JHU_1.11994124 1 11994125 [A/G] JHU_1.11994551 1 11994552 [A/G] 1:11995176-A-G 1 11995176 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent JHU_1.11995175 1 11995176 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent JHU_1.11995214 1 11995215 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent rs72640295 1 11996537 [T/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent rs115626995 1 11997477 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent rs7513651 1 11999124 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent rs114739517 1 12003965 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent 1:12004626-CT 1 12004626 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_H42Y,Silent rs4846080 1 12004999 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent 1:12008065-GA 1 12008065 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_E84K,Missense_E37K rs138698098 1 12008092 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R93C,Missense_R46C rs2336379 1 12008863 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent 1:12009897-GA 1 12009897 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R126Q,Missense_R79Q exm15704 1 12009911 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_A131T,Missense_A84T exm15706 1 12009956 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_A146T,Missense_A99T exm15707 1 12010414 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Synonymous_S148S,Synonymous_S101S 1:12010421-GA 1 12010421 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_V151M,Missense_V104M 1:12010452-TC 1 12010452 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_L161P,Missense_L114P exm15710 1 12010469 [T/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_A167S,Missense_A120S rs2273285 1 12010469 [T/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_A167S,Missense_A120S exm15712 1 12010487 [T/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_F173V,Missense_F126V rs144702307 1 12010487 [T/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_F173V,Missense_F126V rs2273286 1 12012409 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent exm15721 1 12012768 [T/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_K232N,Missense_K185N rs142978362 1 12012768 [T/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_K232N,Missense_K185N exm1705254 1 12012777 [C/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_L235F,Missense_L188F rs142414747 1 12013553 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent exm1705272 1 12014915 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R250H,Missense_R203H 1:12014932-AG 1 12014932 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_N256D,Missense_N209D 1:12017040-CT 1 12017040 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_P284L,Missense_P237L 1:12017158-GA 1 12017158 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent exm15741 1 12017933 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R306H,Missense_R259H exm15742 1 12017942 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_T309I,Missense_T262I rs140758113 1 12017961 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Synonymous_T315T,Synonymous_T268T 1:12017996-TC 1 12017996 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_I327T,Missense_I280T rs2273289 1 12018290 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent chr1_12018585 1 12018585 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_P333S,Missense_P286S 1:12018634-CA 1 12018634 [A/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_S349Y,Missense_S302Y 1:12018684-C-T 1 12018684 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Nonsense_R366X,Nonsense_R319X rs79345327 1 12018717 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent exm15769 1 12023632 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_V428M,Missense_V381M 1:12024246-CT 1 12024246 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_P453L,Missense_P406L 1:12024315-CT 1 12024315 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_A476V,Missense_A429V exm15784 1 12024350 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R488W,Missense_R441W 1:12024353-CT 1 12024353 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R489C,Missense_R442C rs199567720 1 12024354 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R489H,Missense_R442H 1:12024760-GA 1 12024760 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R510Q,Missense_R463Q rs76974801 1 12024869 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent rs145682657 1 12025101 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent rs2273291 1 12025353 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent exm15794 1 12025561 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R546W,Missense_R499W rs149124387 1 12025561 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R546W,Missense_R499W exm15795 1 12025599 [C/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Nonsense_Y558X,Nonsense_Y511X exm15796 1 12025600 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R559C,Missense_R512C rs138490756 1 12025600 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R559C,Missense_R512C exm15798 1 12025648 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_E575K,Missense_E528K Variant15864 1 12026315 [D/I] NM_001316320,NM_000302 PLOD1,PLOD1 EXON 1:12027078-CT 1 12027078 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_T609M,Missense_T562M rs3818157 1 12027308 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent rs114546387 1 12027330 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent rs141692280 1 12030760 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_P644S,Missense_P597S exm15810 1 12030760 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_P644S,Missense_P597S JHU_1.12031388 1 12031389 [A/C] NM_001316320,NM_000302 PLOD1,PLOD1 Silent,Silent exm15817 1 12032953 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_V690I,Missense_V643I rs149425237 1 12032953 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_V690I,Missense_V643I rs199730384 1 12033025 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_A714T,Missense_A667T 1:12033034-C-T 1 12033034 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Nonsense_R717X,Nonsense_R670X 1:12034713-G-A 1 12034713 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_G725R,Missense_G678R rs121913551 1 12034713 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_G725R,Missense_G678R 1:12034756-CT 1 12034756 [T/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_P739L,Missense_P692L rs187909486 1 12034834 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_R765H,Missense_R718H exm15832 1 12034854 [A/G] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Missense_V772I,Missense_V725I rs11553681 1 12035305 [G/C] NM_001316320,NM_000302 PLOD1,PLOD1 EXON Silent,Silent JHU_1.12039061 1 12039062 [A/G] rs116751141 1 12041889 [T/C] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent rs76208470 1 12042298 [T/C] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent rs114281502 1 12044351 [A/G] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent rs2336384 1 12046063 [T/G] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent 1:12046089-G-A 1 12046089 [A/G] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent rs201715603 1 12049283 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_H20Y,Missense_H20Y exm15835 1 12049283 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_H20Y,Missense_H20Y rs138345244 1 12052615 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_T60M,Missense_T60M 1:12052641-G-T 1 12052641 [T/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_V69F,Missense_V69F rs28940293 1 12052663 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_L76P,Missense_L76P 1:12052663-T-C 1 12052663 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_L76P,Missense_L76P 1:12052716-C-T 1 12052716 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R94W,Missense_R94W rs119103263 1 12052716 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R94W,Missense_R94W rs28940291 1 12052717 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R94Q,Missense_R94Q 1:12052717-G-A 1 12052717 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R94Q,Missense_R94Q Variant2098 1 12052735 [I/D] NM_001127660,NM_014874 MFN2,MFN2 EXON 1:12052746-C-T 1 12052746 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R104W,Missense_R104W rs119103268 1 12052746 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R104W,Missense_R104W seq-rs863224068 1 12052747 [T/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R104L,Missense_R104L JHU_1.12053137 1 12053138 [A/G] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent seq-rs863224069 1 12056215 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_T105M,Missense_T105M Variant47982 1 12056293 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_N131S,Missense_N131S seq-rs863224969 1 12056337 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_L146F,Missense_L146F 1:12057372-C-G 1 12057372 [G/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_H165D,Missense_H165D seq-rs863224970 1 12057373 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_H165R,Missense_H165R seq-rs863224064 1 12057420 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_V181M,Missense_V181M rs80100170 1 12057732 [A/G] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent rs41278626 1 12058802 [T/C] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent 1:12058844-C-T 1 12058844 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_T206I,Missense_T206I Variant47983 1 12058874 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_F216S,Missense_F216S IlmnSeq_rs387906990 1 12058874 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_F216S,Missense_F216S seq-rs773159585 1 12058934 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_T236M,Missense_T236M MFN2-chr1-12059056 1 12059056 [A/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_F240L,Missense_F240L seq-rs863224065 1 12059061 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_H242R,Missense_H242R ilmnseq_rs794729198 1 12059082 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_S249F,Missense_S249F rs140234726 1 12059085 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R250Q,Missense_R250Q newrs140234726 1 12059085 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R250Q,Missense_R250Q exm15862 1 12059085 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R250Q,Missense_R250Q 1:12059087-C-G 1 12059087 [G/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_P251A,Missense_P251A rs137960129 1 12059092 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Synonymous_N252N,Synonymous_N252N seq-rs587777875 1 12059111 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R259C,Missense_R259C Variant47986 1 12059112 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R259H,Missense_R259H rs2295281 1 12059412 [T/C] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent Variant47987 1 12061462 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R274Q,Missense_R274Q 1:12061468-A-G 1 12061468 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_Q276R,Missense_Q276R rs28940294 1 12061480 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R280H,Missense_R280H exm15866 1 12061483 [G/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_C281S,Missense_C281S rs11554508 1 12061532 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Synonymous_A297A,Synonymous_A297A exm15872 1 12061533 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_G298R,Missense_G298R seq-rs863224066 1 12061539 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R300C,Missense_R300C 1:12062071-G-C 1 12062071 [G/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_K357N,Missense_K357N 1:12062085-C-T 1 12062085 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_T362M,Missense_T362M seq-rs387906991 1 12062085 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_T362M,Missense_T362M 1:12062090-C-T 1 12062090 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R364W,Missense_R364W rs119103265 1 12062090 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R364W,Missense_R364W ilmnseq_rs879254011 1 12062091 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R364Q,Missense_R364Q seq-rs863224967 1 12062126 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_M376V,Missense_M376V rs2236057 1 12062205 [A/G] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent rs74052924 1 12063198 [A/G] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent rs12069578 1 12064067 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_M393I,Missense_M393I exm15886 1 12064067 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_M393I,Missense_M393I rs138072432 1 12064087 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R400Q,Missense_R400Q exm15888 1 12064087 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R400Q,Missense_R400Q 1:12064584-CGAG-C 1 12064584 [D/I] NM_001127660,NM_014874 MFN2,MFN2 EXON Variant47990 1 12064645 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_P456L,Missense_P456L rs138382758 1 12064892 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R468H,Missense_R468H exm15895 1 12064892 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R468H,Missense_R468H 1:12064940-CT 1 12064940 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_T484M,Missense_T484M rs150043585 1 12064941 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Synonymous_T484T,Synonymous_T484T 1:12065801-GA 1 12065801 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R510Q,Missense_R510Q exm15908 1 12065846 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_N525S,Missense_N525S rs140924661 1 12065913 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Synonymous_L547L,Synonymous_L547L rs138724074 1 12066705 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Synonymous_S609S,Synonymous_S609S 1KG_1_12066749 1 12066749 [D/I] NM_001127660,NM_014874 MFN2,MFN2 EXON 1:12067159-AG 1 12067159 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_Y641C,Missense_Y641C rs369762154 1 12067224 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R663C,Missense_R663C exm15928 1 12069692 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_V705I,Missense_V705I exm15929 1 12069698 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R707W,Missense_R707W rs119103267 1 12069698 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_R707W,Missense_R707W exm15931 1 12069725 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_A716T,Missense_A716T rs144860227 1 12069725 [A/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_A716T,Missense_A716T indel.888 1 12069757 [I/D] NM_001127660,NM_014874 MFN2,MFN2 EXON rs730123 1 12070292 [A/G] NM_001127660,NM_014874 MFN2,MFN2 Silent,Silent rs28940292 1 12071567 [C/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_W740S,Missense_W740S 1:12071567-G-C 1 12071567 [C/G] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_W740S,Missense_W740S seq-rs863224968 1 12071604 [A/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Nonsense_Y752X,Nonsense_Y752X 1:12071608-CA 1 12071608 [A/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Missense_Q754K,Missense_Q754K rs11554507 1 12073110 [T/C] NM_001127660,NM_014874 MFN2,MFN2 EXON Silent,Silent rs35756106 1 12075075 [A/G] JHU_1.12079551 1 12079552 [T/G] NM_021933 MIIP EXON Silent exm15947 1 12082195 [A/C] NM_021933 MIIP EXON Nonsense_S53X exm15951 1 12082246 [A/G] NM_021933 MIIP EXON Missense_R70Q chr1_12082272 1 12082272 [T/G] NM_021933 MIIP EXON Missense_A79S exm15954 1 12082290 [T/C] NM_021933 MIIP EXON Missense_R85C exm15957 1 12082334 [A/T] NM_021933 MIIP EXON Missense_K99N 1:12082360-GA 1 12082360 [A/G] NM_021933 MIIP EXON Missense_R108Q exm15961 1 12082363 [T/C] NM_021933 MIIP EXON Missense_P109L 1:12082435-AG 1 12082435 [A/G] NM_021933 MIIP EXON Missense_D133G exm15965 1 12082461 [T/C] NM_021933 MIIP EXON Missense_P142S rs11588779 1 12082881 [T/C] NM_021933 MIIP Silent exm15970 1 12082926 [A/G] NM_021933 MIIP EXON Missense_K167E rs2295283 1 12082926 [A/G] NM_021933 MIIP EXON Missense_K167E exm15971 1 12082938 [T/C] NM_021933 MIIP EXON Missense_R171C rs202115275 1 12089137 [T/C] NM_021933 MIIP EXON Missense_F199L 1:12089836-CT 1 12089836 [T/C] NM_021933 MIIP EXON Missense_R244C exm15988 1 12089845 [T/C] NM_021933 MIIP EXON Missense_R247W rs2295289 1 12089845 [T/C] NM_021933 MIIP EXON Missense_R247W exm15992 1 12089858 [T/C] NM_021933 MIIP EXON Missense_P251L exm15995 1 12089903 [T/C] NM_021933 MIIP EXON Missense_P266L 1:12089942-CT 1 12089942 [T/C] NM_021933 MIIP EXON Missense_A279V exm15999 1 12089946 [C/G] NM_021933 MIIP EXON Missense_H280Q exm16004 1 12090102 [T/C] NM_021933 MIIP EXON Missense_S288L exm16006 1 12090122 [T/C] NM_021933 MIIP EXON Missense_R295W exm16010 1 12090140 [T/C] NM_021933 MIIP EXON Nonsense_R301X exm2249760 1 12090154 [T/C] NM_021933 MIIP EXON Synonymous_D305D exm16012 1 12090179 [T/C] NM_021933 MIIP EXON Missense_R314W Variant23 1 12091402 [I/D] NM_021933 MIIP EXON exm16023 1 12091410 [A/G] NM_021933 MIIP EXON Missense_A344T exm16027 1 12091788 [A/G] NM_021933 MIIP EXON Missense_M364V exm16032 1 12091839 [T/C] NM_021933 MIIP EXON Missense_P381S exm16033 1 12091851 [T/C] NM_021933 MIIP EXON Missense_R385W JHU_1.12095520 1 12095521 [A/G] rs79424333 1 12098995 [T/C] rs71647030 1 12100942 [T/A] JHU_1.12101429 1 12101430 [A/C] rs12042105 1 12105048 [T/C] rs75169069 1 12108607 [T/C] rs4644506 1 12110568 [C/G] rs75170864 1 12111586 [T/C] JHU_1.12111774 1 12111775 [T/G] rs6662910 1 12114052 [T/G] JHU_1.12114739 1 12114740 [T/C] rs74978828 1 12115178 [C/G] JHU_1.12117354 1 12117355 [T/G] rs114749641 1 12117394 [A/G] rs6665486 1 12117901 [A/G] JHU_1.12124504 1 12124505 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12126364 1 12126365 [T/A] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs77390684 1 12127262 [C/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs72641053 1 12128435 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12129968 1 12129969 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs4491070 1 12130051 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12132933 1 12132934 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs75625446 1 12133428 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs6690493 1 12135526 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs144618950 1 12136049 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12136144 1 12136145 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12137821 1 12137822 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12137939 1 12137940 [A/T] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs11569811 1 12138030 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs12070530 1 12138629 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs57521567 1 12142653 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs11121854 1 12142698 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs1201114 1 12144219 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs11569825 1 12145101 [A/T] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12148979 1 12148980 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12149290 1 12149291 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs72861968 1 12151282 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12151513 1 12151514 [G/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs1201110 1 12153188 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs140346097 1 12154978 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs11121855 1 12156236 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12158077 1 12158078 [C/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12158306 1 12158307 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12158602 1 12158603 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs149079409 1 12161061 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12164450 1 12164451 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_K95R,Silent exm16049 1 12164451 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_K95R,Silent rs72861979 1 12164451 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_K95R,Silent rs12092682 1 12166855 [T/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs72641084 1 12168091 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent exm16066 1 12169689 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_P163L,Missense_P52L exm16074 1 12170154 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_S190N,Missense_S79N 1:12172032-GA 1 12172032 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_E252K,Missense_E141K exm16087 1 12172056 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_V260M,Missense_V149M exm16095 1 12175694 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_P285L,Missense_P174L exm16097 1 12175729 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_R297C,Missense_R186C JHU_1.12175817 1 12175818 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12176030 1 12176031 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12177094 1 12177095 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12177749 1 12177750 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12178173 1 12178174 [A/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs501525 1 12180805 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12181671 1 12181672 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12181830 1 12181831 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs4846096 1 12183174 [A/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs2486316 1 12183245 [T/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent exm16104 1 12183362 [A/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_T323N,Missense_T212N 1:12183839-GA 1 12183839 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_A370T,Missense_A259T rs17422381 1 12184423 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent exm16118 1 12186043 [T/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_V397L,Missense_V286L exm16119 1 12186058 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_S402G,Missense_S291G rs6668157 1 12187130 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs11569920 1 12187232 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs551062 1 12187541 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs11569922 1 12187594 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs620894 1 12188028 [A/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs1201122 1 12188482 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent exm2264802 1 12189561 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12190766 1 12190767 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent rs1148472 1 12194451 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12198296 1 12198297 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Synonymous_S449S,Synonymous_S337S exm16135 1 12198305 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_S452L,Missense_S340L exm16139 1 12198347 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_Q466R,Missense_Q354R exm16141 1 12198362 [A/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_T471N,Missense_T359N JHU_1.12198591 1 12198592 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12198610 1 12198611 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12198634 1 12198635 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12199004 1 12199005 [G/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent JHU_1.12199750 1 12199751 [T/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 Silent,Silent exm16154 1 12202555 [A/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_E585D,Missense_E473D rs149429293 1 12202555 [A/C] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Missense_E585D,Missense_E473D rs11569951 1 12203195 [A/G] NM_001243,NM_001281430 TNFRSF8,TNFRSF8 EXON Silent,Silent rs1148467 1 12204354 [A/G] JHU_1.12205627 1 12205628 [T/C] JHU_1.12205839 1 12205840 [A/C] rs495458 1 12206233 [T/C] JHU_1.12206314 1 12206315 [T/C] rs630542 1 12206866 [T/G] rs77728225 1 12211847 [G/C] rs11583360 1 12212385 [T/G] rs79414875 1 12212907 [A/G] JHU_1.12213336 1 12213337 [A/G] JHU_1.12213516 1 12213517 [T/G] JHU_1.12215100 1 12215101 [T/C] rs1148460 1 12216488 [A/C] rs74053339 1 12218350 [A/T] rs652284 1 12218812 [A/G] rs143584067 1 12221627 [A/G] JHU_1.12222895 1 12222896 [T/C] JHU_1.12223680 1 12223681 [A/G] JHU_1.12225918 1 12225919 [A/C] JHU_1.12230304 1 12230305 [C/G] NM_001066 TNFRSF1B Silent JHU_1.12233060 1 12233061 [A/G] NM_001066 TNFRSF1B Silent rs597991 1 12234767 [A/C] NM_001066 TNFRSF1B Silent rs17885967 1 12237978 [T/C] NM_001066 TNFRSF1B Silent rs5745977 1 12239530 [A/G] NM_001066 TNFRSF1B Silent rs816050 1 12241991 [A/G] NM_001066 TNFRSF1B Silent JHU_1.12242095 1 12242096 [T/C] NM_001066 TNFRSF1B Silent JHU_1.12243723 1 12243724 [T/G] NM_001066 TNFRSF1B Silent JHU_1.12244167 1 12244168 [A/G] NM_001066 TNFRSF1B Silent rs2301258 1 12247940 [T/C] NM_001066 TNFRSF1B Silent rs5746001 1 12248503 [A/G] NM_001066 TNFRSF1B Silent chr1_12248881 1 12248881 [T/C] NM_001066 TNFRSF1B EXON Missense_P36L 1:12248896-GA 1 12248896 [A/G] NM_001066 TNFRSF1B EXON Missense_R41Q rs945439 1 12248942 [A/G] NM_001066 TNFRSF1B EXON Synonymous_K56K exm16171 1 12251141 [T/C] NM_001066 TNFRSF1B EXON Synonymous_S102S exm16177 1 12251902 [T/G] NM_001066 TNFRSF1B EXON Missense_A127S 1:12251915-AG 1 12251915 [A/G] NM_001066 TNFRSF1B EXON Missense_Q131R JHU_1.12252926 1 12252927 [A/G] NM_001066 TNFRSF1B EXON Missense_V187M exm16193 1 12252955 [T/G] NM_001066 TNFRSF1B EXON Missense_M196R rs1061622 1 12252955 [T/G] NM_001066 TNFRSF1B EXON Missense_M196R 1:12252976-CT 1 12252976 [T/C] NM_001066 TNFRSF1B EXON Missense_T203M exm16195 1 12252981 [C/G] NM_001066 TNFRSF1B EXON Missense_P205A 1:12253048-CT 1 12253048 [T/C] NM_001066 TNFRSF1B EXON Missense_T227M exm16200 1 12253062 [A/G] NM_001066 TNFRSF1B EXON Missense_E232K chr1_12253069 1 12253069 [A/G] NM_001066 TNFRSF1B EXON Missense_S234N exm16205 1 12253143 [A/G] NM_001066 TNFRSF1B EXON Missense_A259T exm16206 1 12254015 [T/C] NM_001066 TNFRSF1B EXON Missense_L264P exm16210 1 12254659 [A/G] NM_001066 TNFRSF1B EXON Missense_Q295R rs17883122 1 12256941 [G/C] NM_001066 TNFRSF1B Silent JHU_1.12260336 1 12260337 [A/G] NM_001066 TNFRSF1B Silent JHU_1.12261789 1 12261790 [T/C] NM_001066 TNFRSF1B Silent 1:12261972-A-G 1 12261972 [A/G] NM_001066 TNFRSF1B Silent exm2230952 1 12262042 [A/G] NM_001066 TNFRSF1B EXON Missense_K307E 1:12262124-CT 1 12262124 [T/C] NM_001066 TNFRSF1B EXON Missense_S334L 1:12262165-CA 1 12262165 [A/C] NM_001066 TNFRSF1B EXON Missense_P348T rs5746059 1 12262792 [A/G] NM_001066 TNFRSF1B Silent rs147357313 1 12263402 [T/C] NM_001066 TNFRSF1B Silent rs17884213 1 12263545 [T/C] NM_001066 TNFRSF1B Silent JHU_1.12264870 1 12264871 [A/C] NM_001066 TNFRSF1B Silent rs235218 1 12264871 [A/C] NM_001066 TNFRSF1B Silent rs13306715 1 12266682 [T/C] NM_001066 TNFRSF1B Silent chr1_12266938 1 12266938 [T/C] NM_001066 TNFRSF1B EXON Missense_P416L 1:12266982-CT 1 12266982 [T/C] NM_001066 TNFRSF1B EXON Missense_R431W rs1061624 1 12267265 [A/G] NM_001066 TNFRSF1B EXON Silent JHU_1.12267269 1 12267270 [T/G] NM_001066 TNFRSF1B EXON Silent rs1061628 1 12267999 [T/C] NM_001066 TNFRSF1B EXON Silent JHU_1.12268224 1 12268225 [T/C] NM_001066 TNFRSF1B EXON Silent rs1061631 1 12268499 [A/G] NM_001066 TNFRSF1B EXON Silent rs5746073 1 12268637 [T/C] NM_001066 TNFRSF1B EXON Silent rs5746074 1 12268721 [A/G] NM_001066 TNFRSF1B EXON Silent JHU_1.12270221 1 12270222 [T/C] JHU_1.12271502 1 12271503 [T/C] rs60546882 1 12272577 [T/C] rs12563529 1 12273476 [A/G] rs72864924 1 12274514 [C/G] rs4846100 1 12277664 [C/G] JHU_1.12289969 1 12289970 [A/G] rs77848481 1 12293386 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs61774895 1 12293612 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16242 1 12294420 [C/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G33R,Missense_G33R JHU_1.12301793 1 12301794 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent 1:12302511-G-A 1 12302511 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs61150386 1 12304009 [A/T] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16247 1 12304303 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G59D,Missense_G59D exm16253 1 12304403 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E92D,Missense_E92D 1:12304654-AG 1 12304654 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R143G,Missense_R143G variant.907 1 12304676 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs374450 1 12305286 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm2264987 1 12305286 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs77645630 1 12305693 [T/A] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs142664536 1 12305746 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16261 1 12309291 [A/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_Q153H,Missense_Q153H exm16263 1 12309350 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G173D,Missense_G173D exm16264 1 12309363 [C/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K177N,Missense_K177N 1:12309367-GA 1 12309367 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V179M,Missense_V179M rs115459665 1 12312089 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16270 1 12313827 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I205V,Missense_I205V chr1_12313858 1 12313858 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G215E,Missense_G215E JHU_1.12314979 1 12314980 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16276 1 12316393 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A225T,Missense_A225T 1:12316511-GA 1 12316511 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R264H,Missense_R264H rs235246 1 12316584 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16290 1 12317102 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V300G,Missense_V300G exm16293 1 12317113 [A/T] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R304W,Missense_R304W variant.909 1 12318010 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Nonsense_Y320X,Nonsense_Y320X exm16297 1 12318027 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N326S,Missense_N326S exm16298 1 12318056 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R336C,Missense_R336C exm16299 1 12318057 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R336H,Missense_R336H exm16307 1 12320753 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E372K,Missense_E372K 1:12321134-AG 1 12321134 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T448A,Missense_T448A exm16319 1 12321140 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E450K,Missense_E450K 1:12321203-CA 1 12321203 [A/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_L471M,Missense_L471M newrs190463258 1 12321211 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent 1:12321960-AG 1 12321960 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T473A,Missense_T473A exm16329 1 12322081 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K513R,Missense_K513R variant.912 1 12322142 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent JHU_1.12323256 1 12323257 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs78397324 1 12323257 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs140784738 1 12323607 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent 1:12326961-CA 1 12326961 [A/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_L540I,Missense_L540I exm16342 1 12328811 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_P617L,Missense_P617L rs3765339 1 12329295 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent newrs141962208 1 12331182 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent 1:12332451-G-T 1 12332451 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16356 1 12333084 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R710W,Missense_R710W exm1706232 1 12333085 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R710Q,Missense_R710Q exm1706233 1 12333136 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K727R,Missense_K727R exm1706252 1 12336034 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V797I,Missense_V797I exm16369 1 12336098 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S818L,Missense_S818L exm16371 1 12336134 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R830Q,Missense_R830Q exm2249773 1 12336147 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_N834N,Synonymous_N834N variant.914 1 12336193 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Nonsense_E850X,Nonsense_E850X exm16384 1 12336481 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R946C,Missense_R946C exm16397 1 12336751 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R1036W,Missense_R1036W 1:12336752-GA 1 12336752 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R1036Q,Missense_R1036Q exm1706260 1 12336785 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_P1047L,Missense_P1047L exm16403 1 12336817 [C/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_L1058V,Missense_L1058V exm16404 1 12336823 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D1060N,Missense_D1060N 1:12336917-GA 1 12336917 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_C1091Y,Missense_C1091Y chr1_12337049 1 12337049 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D1135G,Missense_D1135G 1:12337463-CT 1 12337463 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T1273M,Missense_T1273M exm16429 1 12337667 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S1341L,Missense_S1341L exm16432 1 12337694 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R1350Q,Missense_R1350Q exm16439 1 12337888 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D1415N,Missense_D1415N exm16448 1 12338083 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_H1480Y,Missense_H1480Y exm16450 1 12339619 [T/A] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E1505V,Missense_E1505V rs117772643 1 12342436 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs78276732 1 12342438 [G/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs3765337 1 12342599 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent variant.915 1 12342760 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16461 1 12343030 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I1624T,Missense_I1624T 1:12343234-GA 1 12343234 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R1692Q,Missense_R1692Q 1:12343459-CT 1 12343459 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T1767I,Missense_T1767I exm16480 1 12343493 [T/A] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S1778R,Missense_S1778R 1KG_1_12343587 1 12343587 [I/D] NM_015378,NM_018156 VPS13D,VPS13D EXON exm16487 1 12343686 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A1843T,Missense_A1843T variant.916 1 12343793 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_K1878K,Synonymous_K1878K JHU_1.12347387 1 12347388 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent 1:12351129-AG 1 12351129 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R1934G,Missense_R1934G 1:12353652-AG 1 12353652 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_Q1975R,Missense_Q1975R exm16514 1 12353732 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2002C,Missense_R2002C rs1076677 1 12353872 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent JHU_1.12354442 1 12354443 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs143452818 1 12355402 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent 1:12359287-GT 1 12359287 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2021L,Missense_R2021L 1:12364588-CT 1 12364588 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2081M,Missense_T2081M 1:12364627-CT 1 12364627 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2094M,Missense_T2094M exm16528 1 12364649 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_H2101Q,Missense_H2101Q exm16529 1 12364656 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G2104R,Missense_G2104R exm16531 1 12364666 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2107M,Missense_T2107M 1:12364695-AG 1 12364695 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S2117G,Missense_S2117G exm16532 1 12364696 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S2117N,Missense_S2117N exm16534 1 12364752 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2136A,Missense_T2136A rs115361959 1 12368336 [A/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent 1:12368521-TG 1 12368521 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V2158G,Missense_V2158G 1:12368643-AG 1 12368643 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S2199G,Missense_S2199G exm16548 1 12371603 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2248H,Missense_R2248H 1:12371650-CT 1 12371650 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2264W,Missense_R2264W 1:12371900-AG 1 12371900 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_M2285V,Missense_M2285V JHU_1.12373747 1 12373748 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs6685273 1 12373748 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent JHU_1.12374061 1 12374062 [A/T] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent 1:12374230-AG 1 12374230 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I2332V,Missense_I2332V rs138773109 1 12377643 [A/T] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent 1:12378175-CT 1 12378175 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2399C,Missense_R2399C 1:12378268-CT 1 12378268 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2430C,Missense_R2430C exm16571 1 12378274 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2432C,Missense_R2432C exm16577 1 12379557 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2473M,Missense_T2473M exm16584 1 12379656 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2506H,Missense_R2506H 1:12381923-GA 1 12381923 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V2536I,Missense_V2536I exm16589 1 12382704 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A2606T,Missense_A2606T exm16592 1 12382749 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2621C,Missense_R2621C exm16598 1 12383814 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2656H,Missense_R2656H JHU_1.12387545 1 12387546 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16603 1 12387776 [A/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2688P,Missense_T2688P exm16605 1 12387797 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A2695S,Missense_A2695S exm16606 1 12387807 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A2698V,Missense_A2698V rs28533750 1 12391953 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16623 1 12393346 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2784H,Missense_R2784H exm16626 1 12393403 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N2803S,Missense_N2803S exm1706360 1 12398297 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_L2854R,Silent exm16635 1 12401857 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2883C,Missense_R2858C 1:12403000-GT 1 12403000 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G2926V,Missense_G2901V 1:12403056-AG 1 12403056 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2945A,Missense_T2920A rs28510845 1 12406918 [T/A] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16671 1 12409403 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_M3135V,Missense_M3110V 1:12409422-GA 1 12409422 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3141Q,Missense_R3116Q rs181981494 1 12414284 [T/A] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs111890297 1 12414859 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent JHU_1.12415366 1 12415367 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16682 1 12416013 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_Q3246R,Missense_Q3221R chr1_12416052 1 12416052 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3259H,Missense_R3234H exm16687 1 12416075 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3267W,Missense_R3242W exm16693 1 12418521 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_T3335T,Synonymous_T3310T exm2249775 1 12418521 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_T3335T,Synonymous_T3310T 1:12418528-AG 1 12418528 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I3338V,Missense_I3313V 1:12422833-CT 1 12422833 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A3400V,Missense_A3375V 1:12423236-GA 1 12423236 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V3461I,Missense_V3436I exm16709 1 12423273 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N3473S,Missense_N3448S exm16710 1 12423276 [A/T] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K3474M,Missense_K3449M 1:12428605-GA 1 12428605 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D3511N,Missense_D3486N exm16715 1 12428632 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D3520Y,Missense_D3495Y exm16718 1 12429585 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_M3546V,Missense_M3521V exm16722 1 12429702 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3585W,Missense_R3560W rs138385713 1 12434138 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs190063820 1 12434625 [T/A] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent JHU_1.12436523 1 12436524 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16730 1 12438584 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3674C,Missense_R3649C exm1706546 1 12443168 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_M3775T,Missense_M3750T exm16748 1 12445337 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3797W,Missense_R3772W exm16750 1 12445350 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3801H,Missense_R3776H exm16752 1 12445407 [A/T] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N3820I,Missense_N3795I exm16755 1 12446332 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N3858S,Missense_N3833S rs6684591 1 12460002 [G/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16759 1 12460315 [C/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I3904M,Missense_I3879M 1:12460322-GA 1 12460322 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G3907S,Missense_G3882S rs141191755 1 12460612 [A/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs7547740 1 12463073 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs17457935 1 12464308 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs116043887 1 12464608 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs11801678 1 12467620 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16782 1 12475249 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N4047S,Missense_N4022S rs76258242 1 12475878 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm1706632 1 12476744 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G4066V,Missense_G4041V rs151018580 1 12477100 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs6660365 1 12480504 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent JHU_1.12487294 1 12487295 [T/A] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent JHU_1.12493314 1 12493315 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent JHU_1.12494027 1 12494028 [A/T] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs146812270 1 12498521 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs190007360 1 12499012 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs74899782 1 12508218 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs12033108 1 12510485 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs7519797 1 12515591 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent 1:12516136-CT 1 12516136 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A4139V,Missense_A4114V 1:12517973-C-T 1 12517973 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16791 1 12520282 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I4165V,Missense_I4140V exm16797 1 12520436 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T4216I,Missense_T4191I rs76465755 1 12526310 [C/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent JHU_1.12529258 1 12529259 [T/A] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs201427224 1 12539114 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent JHU_1.12539248 1 12539249 [A/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs626822 1 12539675 [T/A] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs140037121 1 12539752 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs115323463 1 12544728 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent JHU_1.12547678 1 12547679 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs75438352 1 12551237 [C/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs142501528 1 12565726 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent chr1_12566978 1 12566978 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S4289N,Missense_S4264N exm16804 1 12566989 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V4293M,Missense_V4268M exm16808 1 12567127 [G/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_P4339A,Missense_P4314A exm16816 1 12568968 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_L4353F,Missense_L4328F chr1_12569010 1 12569010 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_L4367F,Missense_L4342F rs139204686 1 12569183 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Silent,Silent JHU_1.12570619 1 12570620 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Silent,Silent rs75785763 1 12572912 [A/G] rs12129750 1 12573823 [A/G] JHU_1.12583176 1 12583177 [A/G] rs80266716 1 12587545 [A/G] rs17038052 1 12587934 [T/C] rs7550795 1 12589986 [T/C] rs7543597 1 12592282 [T/C] JHU_1.12592281 1 12592282 [T/C] JHU_1.12592293 1 12592294 [T/C] rs7546779 1 12593371 [T/C] rs4846107 1 12593561 [A/G] rs55836856 1 12595871 [T/C] rs760943 1 12598434 [T/C] JHU_1.12599083 1 12599084 [G/C] JHU_1.12599132 1 12599133 [T/G] rs7521256 1 12600396 [T/C] JHU_1.12600844 1 12600845 [A/G] JHU_1.12602905 1 12602906 [C/G] JHU_1.12603257 1 12603258 [A/G] JHU_1.12603807 1 12603808 [A/G] JHU_1.12604080 1 12604081 [T/G] rs79210970 1 12604704 [T/C] rs6541027 1 12605011 [T/C] rs10779770 1 12606725 [A/C] rs6541030 1 12608178 [A/G] rs11589918 1 12608240 [A/G] JHU_1.12608505 1 12608506 [T/C] rs74790186 1 12609268 [G/C] rs6690281 1 12609741 [A/G] JHU_1.12611599 1 12611600 [A/C] rs186091873 1 12616463 [A/G] rs145485888 1 12617539 [T/C] JHU_1.12617660 1 12617661 [C/G] rs4845904 1 12619096 [A/G] rs6541035 1 12620545 [T/C] rs10864570 1 12625101 [T/C] rs114600948 1 12626166 [T/C] rs4846118 1 12626549 [T/C] rs4997711 1 12627680 [T/G] kgp15181256 1 12627990 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Silent,Silent,Silent kgp15637314 1 12628067 [A/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Silent,Silent,Silent rs4580 1 12628188 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Silent,Silent,Silent 1:12628400-GA 1 12628400 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_T293I,Missense_T208I,Missense_T208I exm16821 1 12628440 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_A280T,Missense_A195T,Missense_A195T 1:12628449-GA 1 12628449 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_L277F,Missense_L192F,Missense_L192F rs9919328 1 12632032 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent exm16824 1 12632769 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_V271I,Missense_V186I,Missense_V186I 1KG_1_12632789 1 12632789 [I/D] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON exm16827 1 12632837 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_R248Q,Missense_R163Q,Missense_R163Q rs72871179 1 12634979 [C/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs4845907 1 12637160 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12638114 1 12638114 [G/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12638172 1 12638172 [C/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent 1:12638771-CT 1 12638771 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_E225K,Missense_E140K,Missense_E140K 1:12638805-GT 1 12638805 [T/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_S213R,Missense_S128R,Missense_S128R GA000260 1 12638833 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_L204P,Missense_L119P,Missense_L119P exm16842 1 12638918 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_V176M,Missense_V91M,Missense_V91M kgp6343019 1 12638964 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Synonymous_P160P,Synonymous_P75P,Synonymous_P75P rs3128461 1 12639168 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent 1:12639226-CT 1 12639226 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent exm16854 1 12639389 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_S131G,Missense_S46G,Missense_S46G rs12128227 1 12640081 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12640356 1 12640356 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent 1:12640484-TG 1 12640484 [T/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent 1:12640558-CT 1 12640558 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_R111Q,Missense_R26Q,Missense_R26Q rs11540058 1 12640650 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Synonymous_T80T,Silent,Silent exm1706797 1 12640678 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 EXON Missense_R71Q,Silent,Silent ilmnseq_1:12641735 1 12641735 [T/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs12029485 1 12642243 [T/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent JHU_1.12642314 1 12642315 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent JHU_1.12642716 1 12642717 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12642880 1 12642880 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent JHU_1.12644820 1 12644821 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent JHU_1.12647519 1 12647520 [T/A] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12647813 1 12647813 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12648131 1 12648131 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs78444419 1 12648382 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12649339 1 12649339 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12649900 1 12649900 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs61776834 1 12649900 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent JHU_1.12649899 1 12649900 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12650055 1 12650055 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12650069 1 12650069 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12650076 1 12650076 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent JHU_1.12650320 1 12650321 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12650321 1 12650321 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12650962 1 12650962 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent JHU_1.12651292 1 12651293 [T/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs150689305 1 12651518 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs76150369 1 12652241 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs12045736 1 12654035 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent ilmnseq_1:12654039 1 12654039 [T/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent rs59884583 1 12654269 [G/C] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent JHU_1.12655524 1 12655525 [A/G] NM_004753,NM_001319225,NM_001324370 DHRS3,DHRS3,DHRS3 Silent,Silent,Silent JHU_1.12656445 1 12656446 [A/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent ilmnseq_1:12656676 1 12656676 [A/T] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent JHU_1.12657815 1 12657816 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs112319506 1 12657816 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent ilmnseq_1:12658142 1 12658142 [T/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs11121946 1 12658166 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent JHU_1.12659060 1 12659061 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs58976956 1 12660488 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs76426581 1 12660671 [G/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent ilmnseq_1:12660840 1 12660840 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent ilmnseq_1:12660851_ilmndup1 1 12660851 [T/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent ilmnseq_1:12660851 1 12660851 [T/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent ilmnseq_1:12663003 1 12663003 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent ilmnseq_1:12663041 1 12663041 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs4846127 1 12663774 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs59280112 1 12663958 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent ilmnseq_1:12664359_F2BT 1 12664359 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent ilmnseq_1:12667367 1 12667367 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent ilmnseq_1:12669198 1 12669198 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs34344929 1 12669198 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs113475523 1 12670904 [T/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent JHU_1.12670961 1 12670962 [T/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent ilmnseq_1:12670962 1 12670962 [T/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs4394668 1 12671229 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs5022242 1 12671703 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs6675673 1 12673497 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent JHU_1.12674926 1 12674927 [A/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs4240903 1 12675699 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent JHU_1.12675959 1 12675960 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs11121951 1 12676205 [T/C] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent JHU_1.12676454 1 12676455 [A/T] NM_004753,NM_001319225 DHRS3,DHRS3 Silent,Silent rs144653436 1 12676607 [A/G] NM_004753,NM_001319225 DHRS3,DHRS3 EXON Silent,Silent ilmnseq_1:12676640 1 12676640 [C/G] NM_004753,NM_001319225 DHRS3,DHRS3 EXON Silent,Silent JHU_1.12676661 1 12676662 [T/A] NM_004753,NM_001319225 DHRS3,DHRS3 EXON Silent,Silent exm16868 1 12677188 [A/G] NM_004753 DHRS3 EXON Missense_R56C kgp7821980 1 12677525 [A/G] NM_004753 DHRS3 EXON Silent JHU_1.12678201 1 12678202 [A/C] JHU_1.12678467 1 12678468 [T/C] rs79340401 1 12679581 [T/A] JHU_1.12679781 1 12679782 [A/C] JHU_1.12680516 1 12680517 [A/G] JHU_1.12681567 1 12681568 [A/G] rs4465217 1 12682262 [A/G] rs3000896 1 12682574 [T/C] rs3000895 1 12682855 [T/C] rs6691399 1 12683017 [A/T] JHU_1.12683122 1 12683123 [A/C] rs6699993 1 12683190 [T/G] rs3000893 1 12683421 [T/C] rs6680343 1 12684504 [T/C] rs12070206 1 12689692 [A/G] rs74700976 1 12690924 [A/G] JHU_1.12693786 1 12693787 [T/C] rs76286245 1 12696667 [T/G] rs3000891 1 12699337 [T/C] JHU_1.12699906 1 12699907 [A/C] JHU_1.12702870 1 12702871 [T/C] rs57668808 1 12704216 [T/G] 1:12704657-CT 1 12704657 [T/C] NM_001013630 AADACL4 EXON Missense_T31M JHU_1.12705339 1 12705340 [T/G] NM_001013630 AADACL4 Silent rs182023619 1 12705475 [T/C] NM_001013630 AADACL4 Silent rs74057607 1 12706359 [T/C] NM_001013630 AADACL4 Silent JHU_1.12706600 1 12706601 [T/A] NM_001013630 AADACL4 Silent variant.924 1 12711140 [A/G] NM_001013630 AADACL4 Silent exm16884 1 12711205 [A/T] NM_001013630 AADACL4 EXON Missense_S78C 1:12711208-GA 1 12711208 [A/G] NM_001013630 AADACL4 EXON Missense_V79M 1:12711227-CT 1 12711227 [T/C] NM_001013630 AADACL4 EXON Missense_P85L 1KG_1_12711251 1 12711251 [I/D] NM_001013630 AADACL4 EXON 1:12711308-GA 1 12711308 [A/G] NM_001013630 AADACL4 EXON Missense_R112Q rs56709532 1 12717415 [A/G] NM_001013630 AADACL4 Silent rs3010936 1 12717562 [A/G] NM_001013630 AADACL4 Silent rs2257017 1 12718815 [A/G] NM_001013630 AADACL4 Silent 1:12721835-GA 1 12721835 [A/G] NM_001013630 AADACL4 EXON Missense_R140Q rs116254115 1 12722073 [T/G] NM_001013630 AADACL4 Silent exm1707009 1 12725971 [C/G] NM_001013630 AADACL4 Silent exm16903 1 12726036 [C/G] NM_001013630 AADACL4 EXON Missense_H172D exm16904 1 12726049 [A/C] NM_001013630 AADACL4 EXON Missense_A176D 1:12726115-CT 1 12726115 [T/C] NM_001013630 AADACL4 EXON Missense_A198V exm16913 1 12726169 [A/G] NM_001013630 AADACL4 EXON Missense_R216Q newrs138451476 1 12726174 [T/C] NM_001013630 AADACL4 EXON Nonsense_Q218X 1:12726350-CA 1 12726350 [A/C] NM_001013630 AADACL4 EXON Missense_D276E exm16936 1 12726435 [A/G] NM_001013630 AADACL4 EXON Missense_G305S exm1707014 1 12726464 [A/C] NM_001013630 AADACL4 EXON Missense_E314D 1:12726538-CA 1 12726538 [A/C] NM_001013630 AADACL4 EXON Missense_A339D exm16946 1 12726618 [T/C] NM_001013630 AADACL4 EXON Missense_R366C 1:12726619-GA 1 12726619 [A/G] NM_001013630 AADACL4 EXON Missense_R366H chr1_12726628 1 12726628 [T/G] NM_001013630 AADACL4 EXON Missense_W369L 1:12726654-GA 1 12726654 [A/G] NM_001013630 AADACL4 EXON Missense_G378R rs115688813 1 12731044 [A/G] rs2265709 1 12731572 [T/C] rs2265711 1 12734774 [A/G] rs2256272 1 12736195 [T/C] JHU_1.12737599 1 12737600 [A/G] rs2489260 1 12741240 [A/G] rs2489263 1 12743325 [T/C] rs76574709 1 12743326 [A/G] rs60956495 1 12743365 [A/G] rs150622519 1 12743790 [A/G] rs75852540 1 12750702 [A/G] rs140909879 1 12752203 [T/C] exm2259759 1 12753203 [T/C] JHU_1.12753678 1 12753679 [G/C] rs3010947 1 12754159 [A/G] rs3010948 1 12754569 [T/C] rs4615852 1 12754600 [A/G] JHU_1.12755945 1 12755946 [A/T] rs75192945 1 12759229 [A/G] rs114424125 1 12761240 [T/C] rs3010866 1 12761749 [T/C] rs115444276 1 12766833 [A/G] rs3010872 1 12769239 [T/C] rs116934871 1 12772253 [A/G] rs11807609 1 12773207 [G/C] JHU_1.12775703 1 12775704 [T/C] rs115185186 1 12775981 [T/G] rs3000860 1 12776218 [A/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_X13C,Silent exm16961 1 12776344 [T/A] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Synonymous_T55T,Silent rs3000858 1 12777320 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 Silent,Silent JHU_1.12777360 1 12777361 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 Silent,Silent JHU_1.12777404 1 12777405 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 Silent,Silent exm16963 1 12779547 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_P80L,Silent JHU_1.12779585 1 12779586 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R93H,Silent exm16968 1 12779586 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R93H,Silent exm16969 1 12779618 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_S104P,Silent exm16970 1 12779654 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_V116M,Silent exm16973 1 12779678 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_V124I,Silent variant.928 1 12779693 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_K129E,Silent exm16975 1 12780909 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R137H,Silent rs138775363 1 12782637 [A/C] NM_001103170,NR_111984 AADACL3,AADACL3 Silent,Silent JHU_1.12782858 1 12782859 [C/G] NM_001103170,NR_111984 AADACL3,AADACL3 Silent,Silent exm16979 1 12785200 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_L154S,Silent 1:12785295-CT 1 12785295 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R186W,Silent exm16992 1 12785337 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_A200T,Silent exm16993 1 12785379 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R214W,Silent exm16994 1 12785380 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R214Q,Silent variant.931 1 12785415 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Nonsense_Q226X,Silent exm17000 1 12785451 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_R238G,Silent exm17005 1 12785494 [T/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_C252F,Silent 1:12785495-GT-G 1 12785495 [I/D] NM_001103170,NR_111984 AADACL3,AADACL3 EXON indel.932 1 12785542 [I/D] NM_001103170,NR_111984 AADACL3,AADACL3 EXON exm17006 1 12785608 [A/T] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_I290N,Silent 1:12785660-GT 1 12785660 [T/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_M307I,Silent exm17012 1 12785721 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_A328T,Silent exm17013 1 12785749 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_P337L,Silent exm17023 1 12785911 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Missense_P391L,Silent 1:12786323-C-T 1 12786323 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Silent,Silent rs143716942 1 12787655 [A/G] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Silent,Silent JHU_1.12787822 1 12787823 [T/C] NM_001103170,NR_111984 AADACL3,AADACL3 EXON Silent,Silent rs4846143 1 12802955 [A/C] rs142247766 1 12806129 [A/T] 1:12806416-CT 1 12806416 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Missense_T13I,Missense_T13I 1:12806474-GA 1 12806474 [A/G] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Missense_M32I,Missense_M32I exm1707180 1 12806478 [T/G] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Nonsense_E34X,Nonsense_E34X JHU_1.12808421 1 12808422 [A/C] NM_152290,NM_001330361 C1orf158,C1orf158 Silent,Silent rs11809649 1 12808591 [A/G] NM_152290,NM_001330361 C1orf158,C1orf158 Silent,Silent rs114686607 1 12815538 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 Silent,Silent 1:12815650-TG 1 12815650 [T/G] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Missense_F38V,Silent exm17034 1 12815668 [A/G] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Missense_K44E,Silent exm17037 1 12815677 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Nonsense_Q47X,Silent newrs147495703 1 12815677 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Nonsense_Q47X,Silent rs10746500 1 12816316 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 Silent,Silent rs144245551 1 12816466 [A/G] NM_152290,NM_001330361 C1orf158,C1orf158 Silent,Silent 1:12819411-CT 1 12819411 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Missense_P132S,Missense_P94S exm17056 1 12819421 [A/G] NM_152290,NM_001330361 C1orf158,C1orf158 Silent,Silent 1:12819478-CT 1 12819478 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 Silent,Silent exm17060 1 12820808 [T/C] NM_152290,NM_001330361 C1orf158,C1orf158 EXON Missense_P170L,Missense_P132L rs142298084 1 12821400 [C/G] rs72862122 1 12823636 [A/G] rs2359533 1 12824223 [A/G] JHU_1.12827024 1 12827025 [A/G] rs4846147 1 12829106 [T/A] rs1008477 1 12829219 [T/G] rs2884717 1 12830013 [T/C] rs1977083 1 12831250 [T/C] JHU_1.12832316 1 12832317 [T/G] rs11121976 1 12833428 [T/C] rs74055636 1 12834235 [A/G] exm17071 1 12835144 [T/C] NM_001080830 PRAMEF12 EXON Missense_T45I exm17074 1 12835158 [A/G] NM_001080830 PRAMEF12 EXON Missense_E50K exm17076 1 12835186 [C/G] NM_001080830 PRAMEF12 EXON Missense_W59S exm17077 1 12835240 [A/T] NM_001080830 PRAMEF12 EXON Missense_I77N variant.939 1 12835245 [T/C] NM_001080830 PRAMEF12 EXON Nonsense_R79X 1:12835290-CT 1 12835290 [T/C] NM_001080830 PRAMEF12 EXON Missense_R94C indel.940 1 12835693 [I/D] NM_001080830 PRAMEF12 EXON 1:12835715-GA 1 12835715 [A/G] NM_001080830 PRAMEF12 EXON Missense_R106Q exm17090 1 12835805 [C/G] NM_001080830 PRAMEF12 EXON Missense_C136S exm17094 1 12835868 [T/C] NM_001080830 PRAMEF12 EXON Missense_M157T exm2230980 1 12835927 [T/C] NM_001080830 PRAMEF12 EXON Missense_H177Y exm17098 1 12835930 [A/G] NM_001080830 PRAMEF12 EXON Missense_V178M exm17099 1 12835933 [T/C] NM_001080830 PRAMEF12 EXON Missense_C179R 1:12835946-TC 1 12835946 [T/C] NM_001080830 PRAMEF12 EXON Missense_L183P exm17111 1 12836101 [A/C] NM_001080830 PRAMEF12 EXON Missense_L235I 1:12836207-AC 1 12836207 [A/C] NM_001080830 PRAMEF12 EXON Missense_K270T Variant37690 1 12836235 [T/C] NM_001080830 PRAMEF12 EXON Synonymous_L279L exm17119 1 12837153 [A/G] NM_001080830 PRAMEF12 Silent exm1707263 1 12837222 [A/G] NM_001080830 PRAMEF12 EXON Missense_H311R exm17127 1 12837311 [A/G] NM_001080830 PRAMEF12 EXON Missense_V341I exm17129 1 12837331 [T/G] NM_001080830 PRAMEF12 EXON Missense_E347D exm17162 1 12837669 [T/G] NM_001080830 PRAMEF12 EXON Missense_G460V exm17166 1 12837720 [A/G] NM_001080830 PRAMEF12 EXON Missense_C477Y exm17168 1 12837728 [A/G] NM_001080830 PRAMEF12 EXON Missense_G480S JHU_1.12838776 1 12838777 [A/G] JHU_1.12841837 1 12841838 [A/G] JHU_1.12846868 1 12846869 [A/G] rs61775046 1 12852031 [C/G] NM_023013 PRAMEF1 Silent rs12567807 1 12852748 [T/C] NM_023013 PRAMEF1 Silent exm17220 1 12854354 [A/C] NM_023013 PRAMEF1 EXON Missense_K193T exm17235 1 12854507 [A/G] NM_023013 PRAMEF1 EXON Missense_H244R 1:12854516-CT 1 12854516 [T/C] NM_023013 PRAMEF1 EXON Missense_S247L Variant12319 1 12855778 [D/I] NM_023013,NM_001294139 PRAMEF1,PRAMEF1 EXON JHU_1.12861190 1 12861191 [T/G] 1:12865891-A-T 1 12865891 [A/T] rs80049659 1 12867288 [A/G] rs1416906 1 12868019 [T/C] rs117445899 1 12869704 [T/C] 1:12870500-G-T 1 12870500 [T/G] rs76028458 1 12871239 [A/G] rs117231436 1 12871787 [A/G] indel.946 1 12885336 [D/I] NM_001146344 PRAMEF11 EXON exm17346 1 12887332 [A/C] NM_001146344 PRAMEF11 EXON Missense_S217I JHU_1.12887839 1 12887840 [C/G] NM_001146344 PRAMEF11 Silent JHU_1.12890181 1 12890182 [A/G] NM_001146344 PRAMEF11 Silent JHU_1.12892149 1 12892150 [T/C] JHU_1.12892349 1 12892350 [A/C] rs145256173 1 12899834 [T/A] JHU_1.12902179 1 12902180 [A/T] 1:12907393-CA 1 12907393 [A/C] NM_001013631,NM_001302551,NM_001146181 HNRNPCL1,HNRNPCL4,HNRNPCL3 EXON Missense_E250D,Missense_E250D,Missense_E250D 1:12907524-T-C 1 12907524 [T/C] NM_001013631,NM_001302551,NM_001146181 HNRNPCL1,HNRNPCL4,HNRNPCL3 EXON Missense_E207K,Missense_E207K,Missense_E207K JHU_1.12908590 1 12908591 [A/G] NM_001013631 HNRNPCL1 EXON Silent rs57504055 1 12910240 [A/G] Variant37696 1 12919012 [T/C] NM_023014 PRAMEF2 EXON Nonsense_Q50X 1:12919145-GA 1 12919145 [A/G] NM_023014 PRAMEF2 EXON Missense_R94H exm17540 1 12919838 [A/C] NM_023014 PRAMEF2 EXON Missense_K193T exm17543 1 12919872 [T/G] NM_023014 PRAMEF2 EXON Missense_I204M exm17545 1 12919889 [T/G] NM_023014 PRAMEF2 EXON Missense_L210R exm17546 1 12919891 [T/G] NM_023014 PRAMEF2 EXON Nonsense_E211X exm17566 1 12920053 [A/G] NM_023014 PRAMEF2 EXON Missense_R265G 1:12921095-GA 1 12921095 [A/G] NM_023014 PRAMEF2 EXON Missense_E296K exm17603 1 12921246 [A/G] NM_023014 PRAMEF2 EXON Missense_K346R exm1707418 1 12921252 [T/C] NM_023014 PRAMEF2 EXON Missense_A348V exm17605 1 12921254 [A/G] NM_023014 PRAMEF2 EXON Missense_A349T exm17606 1 12921255 [T/C] NM_023014 PRAMEF2 EXON Missense_A349V exm17613 1 12921311 [A/G] NM_023014 PRAMEF2 EXON Missense_A368T 1:12935531-G-T 1 12935531 [T/G] JHU_1.12937611 1 12937612 [T/C] JHU_1.12937634 1 12937635 [T/C] JHU_1.12941802 1 12941803 [A/G] NM_001009611 PRAMEF4 EXON Synonymous_Y249Y chr1_12942926 1 12942926 [A/G] NM_001009611 PRAMEF4 EXON Missense_P97L chr1_12952808 1 12952808 [A/G] JHU_1.12971050 1 12971051 [T/G] 1:12987376-C-A 1 12987376 [A/C] rs199554450 1 13128691 [A/G] 1:13164185-A-C 1 13164185 [A/C] NR_111945,NR_111947 PRAMEF36P,PRAMEF34P EXON Silent,Silent rs181952802 1 13175331 [A/G] JHU_1.13178337 1 13178338 [A/G] rs28729731 1 13178497 [A/G] JHU_1.13179080 1 13179081 [T/C] JHU_1.13179210 1 13179211 [A/C] JHU_1.13180264 1 13180265 [A/G] exm18070 1 13183032 [T/C] NM_001136561 HNRNPCL2 EXON Missense_E281K kgp11343970 1 13184045 [A/G] NM_001136561 HNRNPCL2 EXON Silent rs139266642 1 13186335 [T/C] JHU_1.13186714 1 13186715 [A/G] JHU_1.13186870 1 13186871 [T/G] JHU_1.13189853 1 13189854 [A/C] JHU_1.13215343 1 13215344 [C/G] JHU_1.13374693 1 13374694 [T/C] NM_001099850,NM_001100631 PRAMEF18,PRAMEF22 Silent,Silent JHU_1.13374928 1 13374929 [T/C] NM_001099850,NM_001100631 PRAMEF18,PRAMEF22 Silent,Silent JHU_1.13375732 1 13375733 [A/C] NM_001099850,NM_001100631 PRAMEF18,PRAMEF22 Silent,Silent 1:13383894-T-C 1 13383894 [T/C] NM_001099850,NM_001100631 PRAMEF18,PRAMEF22 Silent,Silent JHU_1.13480637 1 13480638 [T/C] NM_001099850 PRAMEF18 Silent rs146955208 1 13480638 [T/C] NM_001099850 PRAMEF18 Silent JHU_1.13735169 1 13735170 [A/G] rs10927559 1 13775026 [T/G] JHU_1.13782963 1 13782964 [A/T] rs11580598 1 13783354 [T/C] rs2999877 1 13785062 [A/G] rs2999878 1 13786622 [T/C] rs10803324 1 13787005 [T/G] JHU_1.13787735 1 13787736 [C/G] JHU_1.13789549 1 13789550 [A/G] rs10927600 1 13789649 [A/G] rs74618149 1 13791069 [T/A] JHU_1.13791962 1 13791963 [A/C] JHU_1.13791981 1 13791982 [T/C] rs12036704 1 13792898 [T/C] rs3013083 1 13793207 [A/G] rs3013087 1 13793635 [T/G] JHU_1.13797128 1 13797129 [A/G] rs2999887 1 13797664 [G/C] rs3013105 1 13802325 [T/C] NM_001010847 LRRC38 EXON Missense_K292E exm18547 1 13802325 [T/C] NM_001010847 LRRC38 EXON Missense_K292E exm18549 1 13802373 [A/G] NM_001010847 LRRC38 EXON Missense_L276F 1:13802514-GA 1 13802514 [A/G] NM_001010847 LRRC38 EXON Missense_R229C rs2924855 1 13802818 [T/G] NM_001010847 LRRC38 Silent rs115689880 1 13807177 [T/C] NM_001010847 LRRC38 Silent rs3845608 1 13809227 [T/G] NM_001010847 LRRC38 Silent JHU_1.13809511 1 13809512 [A/T] NM_001010847 LRRC38 Silent JHU_1.13810534 1 13810535 [T/C] NM_001010847 LRRC38 Silent rs454765 1 13813462 [T/G] NM_001010847 LRRC38 Silent rs383287 1 13813899 [T/C] NM_001010847 LRRC38 Silent rs6680362 1 13814103 [A/G] NM_001010847 LRRC38 Silent JHU_1.13814548 1 13814549 [A/G] NM_001010847 LRRC38 Silent JHU_1.13815756 1 13815757 [A/G] NM_001010847 LRRC38 Silent rs3013045 1 13816121 [A/G] NM_001010847 LRRC38 Silent JHU_1.13817380 1 13817381 [A/G] NM_001010847 LRRC38 Silent JHU_1.13819260 1 13819261 [A/G] NM_001010847 LRRC38 Silent JHU_1.13819334 1 13819335 [A/G] NM_001010847 LRRC38 Silent JHU_1.13819429 1 13819430 [A/G] NM_001010847 LRRC38 Silent rs60306193 1 13819683 [T/C] NM_001010847 LRRC38 Silent rs164868 1 13821129 [T/C] NM_001010847 LRRC38 Silent rs55707424 1 13821201 [A/G] NM_001010847 LRRC38 Silent rs11578529 1 13822397 [A/G] NM_001010847 LRRC38 Silent rs76970641 1 13823133 [A/G] NM_001010847 LRRC38 Silent rs12044556 1 13824439 [T/C] NM_001010847 LRRC38 Silent JHU_1.13824463 1 13824464 [T/A] NM_001010847 LRRC38 Silent JHU_1.13824710 1 13824711 [A/G] NM_001010847 LRRC38 Silent rs2999896 1 13825195 [T/C] NM_001010847 LRRC38 Silent rs3013047 1 13830577 [A/G] NM_001010847 LRRC38 Silent rs12733022 1 13831377 [T/C] NM_001010847 LRRC38 Silent rs76079754 1 13833861 [T/C] NM_001010847 LRRC38 Silent JHU_1.13834808 1 13834809 [A/T] NM_001010847 LRRC38 Silent rs11576472 1 13835765 [T/C] NM_001010847 LRRC38 Silent rs151016842 1 13836347 [T/C] NM_001010847 LRRC38 Silent rs2990678 1 13837213 [T/C] NM_001010847 LRRC38 Silent rs2940305 1 13837629 [A/C] NM_001010847 LRRC38 Silent exm18560 1 13839770 [T/C] NM_001010847 LRRC38 EXON Missense_V107M JHU_1.13840302 1 13840303 [A/G] rs2990683 1 13841055 [T/C] rs76716765 1 13841381 [T/C] rs2924858 1 13841632 [A/G] rs2282186 1 13842152 [T/C] exm2264988 1 13842586 [A/G] rs189579777 1 13842640 [A/T] JHU_1.13842859 1 13842860 [T/G] JHU_1.13843006 1 13843007 [A/G] rs6659725 1 13843123 [A/G] JHU_1.13843301 1 13843302 [T/C] JHU_1.13844561 1 13844562 [A/G] rs16851109 1 13844765 [A/G] rs424296 1 13845032 [A/G] rs80083672 1 13845774 [A/G] JHU_1.13847745 1 13847746 [T/C] rs59049410 1 13848032 [A/G] rs10927802 1 13850429 [T/G] rs4345799 1 13851036 [T/G] rs2168201 1 13852683 [A/G] rs3845610 1 13854868 [T/C] rs117407343 1 13854913 [T/C] rs143920362 1 13858451 [T/C] rs3856278 1 13859570 [A/G] rs4661643 1 13859763 [T/G] rs76292217 1 13859853 [A/T] JHU_1.13860464 1 13860465 [T/C] rs72866362 1 13863331 [T/G] rs72866374 1 13868604 [G/C] JHU_1.13868778 1 13868779 [G/C] rs444516 1 13870966 [T/C] JHU_1.13873285 1 13873286 [A/G] rs1767679 1 13874226 [T/C] rs17391912 1 13875610 [T/C] rs2788750 1 13876373 [T/C] rs143054611 1 13878181 [A/C] rs6684199 1 13880522 [A/G] rs192213159 1 13880916 [A/G] JHU_1.13882319 1 13882320 [T/C] JHU_1.13884087 1 13884088 [T/C] JHU_1.13884793 1 13884794 [A/C] rs12042662 1 13885279 [A/G] 1:13567859del133 1 13894355 [I/D] JHU_1.13903211 1 13903212 [A/C] rs190698958 1 13903602 [A/G] rs1261010 1 13903619 [A/G] rs171373 1 13904497 [T/G] rs117434137 1 13905585 [A/G] rs2885135 1 13906527 [C/G] rs3845611 1 13906978 [T/G] rs355022 1 13908690 [T/C] rs12757529 1 13909211 [A/G] rs16851895 1 13909432 [T/C] chr1_13910332 1 13910333 [I/D] NM_006474,NM_198389 PDPN,PDPN EXON 1:13910335-AG 1 13910335 [A/G] NM_006474,NM_198389 PDPN,PDPN EXON Missense_K12R,Missense_K12R exm18565 1 13910346 [T/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_R16W,Missense_R16W exm18566 1 13910353 [A/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_P18H,Missense_P18H exm18573 1 13910419 [G/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_P40R,Missense_P40R 1:13910431-CA 1 13910431 [A/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_S44Y,Missense_S44Y exm18576 1 13910521 [T/C] NM_006474,NM_198389 PDPN,PDPN EXON Missense_T74M,Missense_T74M 1:13910586-GA 1 13910586 [A/G] NM_006474,NM_198389 PDPN,PDPN EXON Missense_A96T,Missense_A96T rs1148454 1 13911393 [T/C] NM_006474,NM_198389 PDPN,PDPN Silent,Silent rs355028 1 13913180 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs1148455 1 13914230 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs12066556 1 13914831 [T/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs10927904 1 13914909 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs3845612 1 13916002 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs434651 1 13916809 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs79403559 1 13916896 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs12034614 1 13918828 [A/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs16851999 1 13919780 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs57026300 1 13921991 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent JHU_1.13922094 1 13922095 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs61777782 1 13922400 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs1262460 1 13924863 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs72867960 1 13926406 [T/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs35656843 1 13926782 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent JHU_1.13927706 1 13927707 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs192062459 1 13928139 [A/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent JHU_1.13931111 1 13931112 [A/T] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs12134021 1 13932141 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent 1:13933670-AG 1 13933670 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_S100G,Missense_S100G,Silent,Silent 1:13933775-CT 1 13933775 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_R135C,Missense_R135C,Missense_R17C,Missense_R17C rs35870640 1 13933855 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs139625446 1 13935573 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs372349 1 13935667 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent exm1709179 1 13936955 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_A168V,Missense_A168V,Missense_A50V,Missense_A50V 1:13937002-CT 1 13937002 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_H184Y,Missense_H184Y,Missense_H66Y,Missense_H66Y rs4391657 1 13937281 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs1412839 1 13938511 [A/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs11586786 1 13938778 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs3820304 1 13938788 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent JHU_1.13939176 1 13939177 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs11584648 1 13939650 [A/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs2275384 1 13940560 [A/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent 1:13940803-TC 1 13940803 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_S203P,Missense_S203P,Missense_S85P,Missense_S85P exm18606 1 13940864 [G/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_A223G,Missense_A223G,Missense_A105G,Missense_A105G variant.964 1 13940884 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Nonsense_R230X,Nonsense_R230X,Nonsense_R112X,Nonsense_R112X 1:13940894-CT 1 13940894 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_S233L,Missense_S233L,Missense_S115L,Missense_S115L variant.965 1 13940906 [T/C] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Missense_S237L,Silent,Missense_S119L,Silent JHU_1.13943898 1 13943899 [T/G] NM_006474,NM_198389,NM_001006624,NM_001006625 PDPN,PDPN,PDPN,PDPN EXON Silent,Silent,Silent,Silent rs876931 1 13944568 [T/C] rs6703700 1 13946586 [A/G] JHU_1.13948262 1 13948263 [A/G] JHU_1.13948608 1 13948609 [A/G] JHU_1.13948877 1 13948878 [T/G] rs16852432 1 13949831 [A/G] 1:13951651-A-G 1 13951651 [A/G] 1:13952704-A-G 1 13952704 [A/G] rs7515525 1 13952864 [T/G] rs12408369 1 13954726 [A/G] 1:13956078-A-G 1 13956078 [A/G] rs10803421 1 13956484 [T/C] rs4661916 1 13957125 [A/C] JHU_1.13957635 1 13957636 [T/C] rs80122938 1 13957636 [T/C] rs75617340 1 13958410 [A/C] rs142923096 1 13958585 [T/C] rs370225116 1 13958626 [A/G] JHU_1.13960437 1 13960438 [T/C] rs6701406 1 13962594 [T/C] rs10927924 1 13964863 [A/G] rs10927926 1 13966218 [A/G] JHU_1.13966686 1 13966687 [T/C] JHU_1.13966918 1 13966919 [A/C] rs78269445 1 13967978 [A/G] rs2495066 1 13982716 [T/C] JHU_1.13987513 1 13987514 [A/G] JHU_1.13989795 1 13989796 [T/C] JHU_1.13990528 1 13990529 [A/G] rs140782389 1 13994292 [A/G] rs76554945 1 13995495 [T/C] JHU_1.13996844 1 13996845 [G/C] rs142581203 1 13997518 [A/G] rs72869908 1 14000227 [T/C] rs4662010 1 14001018 [T/C] rs2487649 1 14004982 [T/C] JHU_1.14007697 1 14007698 [A/G] rs74540179 1 14008431 [A/G] rs2487651 1 14009723 [G/C] JHU_1.14009858 1 14009859 [A/G] rs12021726 1 14012771 [T/C] rs77057964 1 14014656 [A/G] JHU_1.14017725 1 14017726 [T/G] rs4077841 1 14020405 [T/C] JHU_1.14023480 1 14023481 [T/C] rs138224148 1 14029767 [T/C] NM_001135610 PRDM2 Silent rs2495060 1 14032007 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Silent,Silent,Silent rs2487622 1 14033128 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 Silent,Silent,Silent rs80179464 1 14035308 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 Silent,Silent,Silent JHU_1.14041455 1 14041456 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 Silent,Silent,Silent JHU_1.14047853 1 14047854 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 Silent,Silent,Silent rs76081057 1 14053123 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 Silent,Silent,Silent 1:14057514-CT 1 14057514 [T/C] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Missense_A10V,Missense_A10V,Missense_A10V JHU_1.14058375 1 14058376 [T/C] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 Silent,Silent,Silent exm18628 1 14059374 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Nonsense_W76X,Nonsense_W76X,Nonsense_W76X rs147014305 1 14060053 [T/C] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 Silent,Silent,Silent 1:14068510-CA 1 14068510 [A/C] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Missense_P81Q,Missense_P81Q,Missense_P81Q rs188038052 1 14068545 [C/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Missense_P93A,Missense_P93A,Missense_P93A rs117810798 1 14068973 [T/C] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 Silent,Silent,Silent JHU_1.14070825 1 14070826 [A/T] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 Silent,Silent,Silent 1:14075874-GT 1 14075874 [T/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Nonsense_E135X,Nonsense_E135X,Nonsense_E135X exm18641 1 14075946 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Missense_A159P,Missense_A159P,Missense_A159P,Silent 1:14077889-T-G 1 14077889 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent JHU_1.14079576 1 14079577 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent JHU_1.14088140 1 14088141 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent rs1406417 1 14092865 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent rs2359756 1 14096420 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent JHU_1.14097081 1 14097082 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent 1:14099571-AG 1 14099571 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent exm18645 1 14099574 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Synonymous_G171G,Synonymous_G171G,Silent 1:14099677-GA 1 14099677 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A206T,Missense_A206T,Missense_A5T rs16852937 1 14101169 [G/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent 1:14104961-CT 1 14104961 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_P224L,Missense_P224L,Missense_P23L exm18656 1 14105049 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D253E,Missense_D253E,Missense_D52E exm18657 1 14105062 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A258T,Missense_A258T,Missense_A57T exm18664 1 14105139 [A/T] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D283E,Missense_D283E,Missense_D82E exm18666 1 14105142 [A/T] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D284E,Missense_D284E,Missense_D83E exm18668 1 14105222 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R311Q,Missense_R311Q,Missense_R110Q 1:14105446-GA 1 14105446 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V386I,Missense_V386I,Missense_V185I exm18684 1 14105605 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_N439D,Missense_N439D,Missense_N238D indel.970 1 14105635 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON exm18687 1 14105639 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S450N,Missense_S450N,Missense_S249N exm18688 1 14105677 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A463T,Missense_A463T,Missense_A262T exm18692 1 14105726 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V479G,Missense_V479G,Missense_V278G 1:14105903-AG 1 14105903 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_Y538C,Missense_Y538C,Missense_Y337C 1:14106047-TC 1 14106047 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_I586T,Missense_I586T,Missense_I385T exm18712 1 14106145 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_P619S,Missense_P619S,Missense_P418S 1KG_1_14106394 1 14106394 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON exm18722 1 14106400 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A704P,Missense_A704P,Missense_A503P exm18728 1 14106457 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A723S,Missense_A723S,Missense_A522S exm18729 1 14106463 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M725V,Missense_M725V,Missense_M524V exm18735 1 14106620 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S777T,Missense_S777T,Missense_S576T exm18736 1 14106623 [A/T] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_H778L,Missense_H778L,Missense_H577L exm18738 1 14106705 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M805I,Missense_M805I,Missense_M604I 1:14106791-CA 1 14106791 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A834D,Missense_A834D,Missense_A633D 1:14107076-CT 1 14107076 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_P929L,Missense_P929L,Missense_P728L JHU_1.14107111 1 14107112 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_T941I,Missense_T941I,Missense_T740I exm18750 1 14107112 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_T941I,Missense_T941I,Missense_T740I exm18751 1 14107135 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_P949A,Missense_P949A,Missense_P748A 1:14107136-CT 1 14107136 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_P949L,Missense_P949L,Missense_P748L exm18757 1 14107195 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D969Y,Missense_D969Y,Missense_D768Y exm18762 1 14107267 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V993I,Missense_V993I,Missense_V792I exm18773 1 14107544 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V1085A,Missense_V1085A,Missense_V884A exm18776 1 14107568 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A1093V,Missense_A1093V,Missense_A892V exm18780 1 14107643 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1118F,Missense_S1118F,Missense_S917F exm18782 1 14107658 [T/A] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D1123V,Missense_D1123V,Missense_D922V 1:14108060-AAAG-A 1 14108060 [I/D] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON indel.971 1 14108187 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON 1:14108321-AG 1 14108321 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_N1344S,Missense_N1344S,Missense_N1143S exm2275424 1 14108437 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V1383M,Missense_V1383M,Missense_V1182M 1:14108474-GA 1 14108474 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R1395Q,Missense_R1395Q,Missense_R1194Q exm18809 1 14108496 [G/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R1402S,Missense_R1402S,Missense_R1201S 1:14108531-CT 1 14108531 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1414L,Missense_S1414L,Missense_S1213L indel.972 1 14108627 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON exm18821 1 14108749 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_K1487Q,Missense_K1487Q,Missense_K1286Q exm18825 1 14108821 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1511G,Missense_S1511G,Missense_S1310G chr1_14108914 1 14108914 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_T1542A,Missense_T1542A,Missense_T1341A exm18833 1 14108975 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1562L,Missense_S1562L,Missense_S1361L exm18838 1 14109031 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M1581V,Missense_M1581V,Missense_M1380V exm18841 1 14109080 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_K1597R,Missense_K1597R,Missense_K1396R exm18842 1 14109084 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_N1598K,Missense_N1598K,Missense_N1397K rs1203651 1 14109114 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Synonymous_S1608S,Synonymous_S1608S,Synonymous_S1407S exm18849 1 14109122 [T/A] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_L1611Q,Missense_L1611Q,Missense_L1410Q exm18850 1 14109125 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_H1612P,Missense_H1612P,Missense_H1411P 1:14109167-CT 1 14109167 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1626F,Missense_S1626F,Missense_S1425F exm18856 1 14109197 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R1636Q,Missense_R1636Q,Missense_R1435Q exm18857 1 14109226 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_G1646R,Missense_G1646R,Missense_G1445R exm18859 1 14109322 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_F1678L,Missense_F1678L,Missense_F1477L JHU_1.14114215 1 14114216 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Silent,Silent,Silent rs11581840 1 14119339 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent JHU_1.14121387 1 14121388 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent JHU_1.14121845 1 14121846 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs1203638 1 14121892 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs59511459 1 14122876 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2281170 1 14124098 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2281169 1 14124110 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs16852988 1 14124523 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent JHU_1.14124976 1 14124977 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs1015370 1 14125210 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs742355 1 14126361 [T/A] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs11803035 1 14127020 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent JHU_1.14127135 1 14127136 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent JHU_1.14129074 1 14129075 [C/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2281164 1 14130628 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent JHU_1.14130816 1 14130817 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs145124338 1 14131363 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs74828630 1 14133491 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2244634 1 14134154 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs148197096 1 14135407 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs192486676 1 14135873 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2235517 1 14136702 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent JHU_1.14138705 1 14138706 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs185991005 1 14139075 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs80321197 1 14139292 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent JHU_1.14141895 1 14141896 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs11588426 1 14141988 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent exm2231030 1 14142940 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_R177H,Synonymous_A1685A exm1709424 1 14142960 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_R184W,Missense_A1692V exm18869 1 14143002 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Nonsense_Q198X,Missense_P1706L exm18870 1 14143003 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_Q198R,Synonymous_P1706P rs116444164 1 14143795 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2697957 1 14146063 [A/T] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2235514 1 14146935 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs61374680 1 14147385 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs11807771 1 14148410 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2697971 1 14148441 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs6669610 1 14148756 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent exm18873 1 14149668 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_W224G,Silent exm18874 1 14149672 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Missense_N225S,Silent rs3820012 1 14150138 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Silent,Silent rs2697964 1 14150709 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Silent,Silent rs2903 1 14151506 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Silent,Silent rs12044064 1 14152449 [A/G] rs2697960 1 14153837 [A/G] JHU_1.14154113 1 14154114 [A/G] rs75002318 1 14155002 [A/G] rs7520386 1 14155402 [A/G] rs2495087 1 14155658 [T/C] rs2473231 1 14155678 [G/C] rs78142934 1 14158343 [T/G] rs1881561 1 14158755 [T/G] rs7530376 1 14158776 [A/G] rs140571409 1 14160842 [A/G] rs2495052 1 14161251 [A/G] JHU_1.14161317 1 14161318 [T/G] rs932369 1 14161921 [A/T] rs1203689 1 14162680 [A/T] JHU_1.14163183 1 14163184 [A/G] rs12049581 1 14163485 [T/G] rs1203683 1 14164286 [A/C] rs1973904 1 14170060 [A/C] JHU_1.14171621 1 14171622 [A/G] JHU_1.14172423 1 14172424 [T/C] rs75607458 1 14173290 [T/C] JHU_1.14177710 1 14177711 [T/C] JHU_1.14180702 1 14180703 [T/G] rs74056043 1 14180900 [A/G] rs720035 1 14190669 [A/G] rs16853067 1 14192304 [A/G] rs1203660 1 14192526 [A/G] JHU_1.14193156 1 14193157 [A/C] rs72871323 1 14193271 [T/C] rs2744671 1 14195122 [T/C] rs7546945 1 14195969 [A/C] JHU_1.14196114 1 14196115 [A/G] rs16853069 1 14196212 [T/C] rs56687185 1 14199862 [T/C] rs12753492 1 14201546 [A/C] JHU_1.14201929 1 14201930 [T/C] JHU_1.14202099 1 14202100 [T/C] JHU_1.14205286 1 14205287 [A/G] rs10927944 1 14205337 [C/G] JHU_1.14205336 1 14205337 [C/G] JHU_1.14205342 1 14205343 [T/C] rs61777376 1 14206061 [A/G] JHU_1.14208039 1 14208040 [T/C] rs1203696 1 14208488 [T/C] rs9287293 1 14208571 [A/G] rs1203698 1 14209336 [A/G] rs10737914 1 14210730 [T/G] rs12091229 1 14213963 [A/G] rs1528786 1 14214412 [A/G] JHU_1.14215073 1 14215074 [C/G] rs1881559 1 14216113 [A/C] rs2744652 1 14216203 [T/C] rs760911 1 14218438 [A/G] rs60818714 1 14220680 [A/C] rs2744647 1 14220942 [A/G] rs2697979 1 14221528 [A/G] rs76564653 1 14222100 [A/G] rs2038095 1 14224999 [A/G] JHU_1.14227534 1 14227535 [T/C] rs80203788 1 14227781 [T/C] JHU_1.14227926 1 14227927 [T/C] rs6429800 1 14228077 [A/G] rs1203709 1 14228490 [T/G] JHU_1.14228551 1 14228552 [T/C] rs10927952 1 14230687 [A/G] JHU_1.14231876 1 14231877 [A/G] rs1203705 1 14232061 [A/T] rs7536590 1 14232891 [T/C] rs7543809 1 14232929 [T/C] rs1203704 1 14234018 [A/G] rs10803433 1 14235500 [T/G] JHU_1.14239428 1 14239429 [A/T] rs12745720 1 14240110 [T/C] rs116943693 1 14240202 [T/C] rs12122426 1 14240350 [A/C] JHU_1.14241004 1 14241005 [T/C] JHU_1.14241333 1 14241334 [T/C] rs12029175 1 14241471 [A/T] JHU_1.14242585 1 14242586 [A/G] rs1203701 1 14243060 [T/C] rs78799130 1 14243253 [C/G] rs74226282 1 14243609 [A/G] rs10803436 1 14245737 [A/G] rs12025627 1 14245797 [A/C] rs7529621 1 14247858 [T/C] rs187080837 1 14248109 [T/C] JHU_1.14250518 1 14250519 [G/C] rs143549651 1 14251595 [T/C] rs35899553 1 14252008 [T/G] rs7542884 1 14252372 [T/G] rs10927959 1 14253821 [A/G] rs7535502 1 14255847 [A/G] rs12123612 1 14255863 [A/G] rs75965310 1 14257111 [A/G] rs146019718 1 14257419 [A/T] rs148740590 1 14257733 [A/G] JHU_1.14258171 1 14258172 [T/G] JHU_1.14261752 1 14261753 [A/G] rs2206585 1 14261909 [T/G] rs61775579 1 14265077 [A/G] JHU_1.14269959 1 14269960 [A/G] JHU_1.14273276 1 14273277 [T/C] rs12039151 1 14273809 [A/G] JHU_1.14277407 1 14277408 [T/C] rs10803437 1 14278581 [A/T] rs2359896 1 14280562 [A/G] exm2249847 1 14281451 [T/C] rs77079888 1 14281492 [A/G] rs61775585 1 14281775 [A/G] rs11589608 1 14282745 [T/C] JHU_1.14282810 1 14282811 [T/C] rs12136489 1 14284508 [G/C] JHU_1.14285214 1 14285215 [A/G] JHU_1.14285939 1 14285940 [A/G] rs76716735 1 14286149 [A/G] rs4662057 1 14286464 [A/G] rs12043481 1 14287649 [T/G] rs10803439 1 14287919 [T/C] rs66994930 1 14288571 [A/G] rs76240860 1 14289441 [T/A] rs16853276 1 14289947 [G/C] JHU_1.14290253 1 14290254 [G/C] rs6682677 1 14292910 [T/C] rs1883644 1 14294181 [A/G] rs10927972 1 14297110 [A/G] rs12024045 1 14297220 [A/G] rs10803442 1 14297683 [T/C] JHU_1.14298097 1 14298098 [T/G] rs72640509 1 14298660 [A/G] JHU_1.14301433 1 14301434 [A/G] JHU_1.14301509 1 14301510 [T/C] rs72640512 1 14301862 [A/G] rs16853319 1 14301942 [T/C] rs10927977 1 14302352 [T/C] rs12059926 1 14302883 [T/C] rs2359899 1 14303160 [A/G] rs184283787 1 14305736 [A/C] rs78089625 1 14308269 [A/G] rs17351137 1 14308446 [A/G] rs4661462 1 14311056 [A/G] rs149928377 1 14311605 [T/C] rs12072002 1 14315141 [A/C] rs149540494 1 14320297 [A/C] rs6681501 1 14320502 [T/G] rs114622452 1 14322153 [A/G] rs117363340 1 14330469 [A/T] rs12129723 1 14331940 [A/G] rs2223624 1 14337844 [T/C] rs12565366 1 14338234 [A/G] rs12566758 1 14338807 [T/C] rs138474452 1 14339745 [A/G] rs147128856 1 14340722 [A/C] rs16853407 1 14341876 [T/C] rs79683186 1 14344075 [A/C] rs149863983 1 14344961 [A/G] rs6429823 1 14345814 [A/G] rs7520101 1 14346629 [A/G] rs75890819 1 14348539 [T/C] rs34115388 1 14348553 [T/C] rs6671077 1 14352418 [T/G] 1:14357900-C-T 1 14357900 [T/C] rs2206586 1 14359224 [T/C] rs7414562 1 14359780 [A/G] exm-rs7414562 1 14359780 [A/G] rs111294562 1 14360329 [T/C] rs61777713 1 14361792 [T/C] rs4662077 1 14363266 [T/A] rs7527265 1 14363685 [A/G] rs2359908 1 14364575 [T/C] rs74985480 1 14365259 [T/C] rs2294811 1 14365793 [A/C] rs79326648 1 14365969 [T/G] JHU_1.14366542 1 14366543 [T/C] JHU_1.14366603 1 14366604 [C/G] rs4662089 1 14368289 [A/G] rs143700830 1 14370772 [A/G] JHU_1.14370906 1 14370907 [T/C] rs12061818 1 14372058 [A/G] rs10754907 1 14372163 [T/C] JHU_1.14376543 1 14376544 [A/G] JHU_1.14378578 1 14378579 [T/C] rs60267211 1 14379424 [G/C] rs10737918 1 14385135 [A/G] rs61775664 1 14390782 [A/G] JHU_1.14390851 1 14390852 [T/C] rs72641642 1 14391038 [T/C] rs7538925 1 14394291 [T/C] rs76543990 1 14394512 [T/C] JHU_1.14394539 1 14394540 [A/G] rs113922444 1 14395794 [A/G] rs28697868 1 14399559 [G/C] JHU_1.14404286 1 14404287 [T/A] rs9660013 1 14405785 [A/C] rs183218398 1 14406338 [T/G] rs34471172 1 14406435 [A/G] JHU_1.14406434 1 14406435 [A/G] JHU_1.14408616 1 14408617 [A/G] JHU_1.14408619 1 14408620 [A/G] JHU_1.14408927 1 14408928 [T/C] rs11586306 1 14409127 [A/G] rs10928004 1 14418448 [T/C] rs10928005 1 14420348 [A/C] JHU_1.14421455 1 14421456 [A/G] rs72862519 1 14422099 [G/C] rs7549481 1 14422576 [T/C] rs4661471 1 14423009 [T/C] rs16853588 1 14425555 [T/C] JHU_1.14425955 1 14425956 [A/G] JHU_1.14425962 1 14425963 [T/C] JHU_1.14426014 1 14426015 [A/C] JHU_1.14426256 1 14426257 [A/G] rs7534460 1 14426751 [A/G] JHU_1.14429408 1 14429409 [T/C] rs78907578 1 14429846 [T/C] JHU_1.14431840 1 14431841 [A/T] rs10928009 1 14433775 [T/C] JHU_1.14438530 1 14438531 [A/C] rs6664213 1 14440141 [T/G] rs6698398 1 14440853 [T/G] JHU_1.14440882 1 14440883 [T/C] JHU_1.14440955 1 14440956 [T/C] rs7519796 1 14441384 [A/G] rs10803452 1 14441553 [T/C] rs16853600 1 14444796 [T/C] rs77826294 1 14446220 [A/C] rs12066491 1 14447897 [T/C] rs4662105 1 14448184 [T/C] rs4662110 1 14448571 [T/C] JHU_1.14449414 1 14449415 [G/C] rs78603207 1 14449922 [A/C] rs61775718 1 14451913 [T/G] JHU_1.14453893 1 14453894 [T/G] rs74057278 1 14454125 [T/C] JHU_1.14454124 1 14454125 [T/C] JHU_1.14454140 1 14454141 [A/G] JHU_1.14457034 1 14457035 [T/G] rs717538 1 14457230 [A/C] JHU_1.14461219 1 14461220 [A/C] JHU_1.14461507 1 14461508 [A/G] JHU_1.14462559 1 14462560 [A/G] rs6671072 1 14463067 [A/G] rs10803459 1 14464167 [T/C] JHU_1.14464576 1 14464577 [A/T] JHU_1.14464603 1 14464604 [A/G] rs148246348 1 14465090 [A/C] rs4661477 1 14467720 [T/C] JHU_1.14467748 1 14467749 [A/C] JHU_1.14469985 1 14469986 [T/C] rs12758112 1 14473926 [A/G] rs116608206 1 14474000 [A/G] JHU_1.14475891 1 14475892 [A/G] rs17353931 1 14476490 [A/G] rs10803465 1 14477154 [A/G] JHU_1.14485237 1 14485238 [A/G] rs10928043 1 14487284 [T/C] rs1416633 1 14487708 [A/G] rs7546077 1 14489962 [A/G] rs61088953 1 14490310 [T/C] rs9803674 1 14490497 [T/C] JHU_1.14491957 1 14491958 [A/G] rs10803470 1 14492478 [T/C] rs6692372 1 14495162 [A/G] rs12568548 1 14496787 [A/G] rs78635536 1 14498302 [A/G] JHU_1.14499707 1 14499708 [A/G] JHU_1.14500584 1 14500585 [A/G] JHU_1.14504290 1 14504291 [T/G] rs10754914 1 14507739 [A/G] rs72643193 1 14508328 [A/G] rs577987 1 14509276 [A/G] rs12736419 1 14509334 [T/C] rs78710483 1 14510038 [A/G] JHU_1.14510418 1 14510419 [A/G] rs78520503 1 14512781 [T/C] rs565765 1 14512986 [A/G] JHU_1.14513234 1 14513235 [A/G] rs117355363 1 14513941 [T/C] JHU_1.14514137 1 14514138 [A/G] rs139098914 1 14516459 [T/C] rs641343 1 14518979 [A/G] rs643089 1 14519387 [T/G] rs76335350 1 14522592 [T/C] JHU_1.14524396 1 14524397 [A/G] rs79471845 1 14524397 [A/G] rs72644406 1 14526153 [A/G] rs112343120 1 14527034 [A/G] rs16853794 1 14536129 [T/C] JHU_1.14537270 1 14537271 [A/G] JHU_1.14537404 1 14537405 [A/G] rs647287 1 14539152 [A/G] JHU_1.14539625 1 14539626 [C/G] rs1339365 1 14546406 [C/G] JHU_1.14546874 1 14546875 [T/C] rs2027315 1 14547727 [T/C] rs579531 1 14549415 [A/G] rs553747 1 14555317 [C/G] JHU_1.14556471 1 14556472 [A/G] rs12755154 1 14558316 [T/G] JHU_1.14565063 1 14565064 [T/C] JHU_1.14567242 1 14567243 [T/C] JHU_1.14568156 1 14568157 [T/C] JHU_1.14569419 1 14569420 [T/G] JHU_1.14569832 1 14569833 [T/C] rs116524258 1 14571711 [T/C] rs78742972 1 14573293 [G/C] rs72644433 1 14573900 [A/G] rs10157045 1 14575084 [A/G] rs10158007 1 14575256 [T/C] rs6693453 1 14575462 [A/G] rs189132410 1 14577482 [A/G] rs7412716 1 14577730 [A/G] rs72644436 1 14579318 [T/C] exm2264989 1 14579733 [A/G] rs6668555 1 14579742 [T/C] rs113139957 1 14580456 [A/C] rs4127243 1 14582098 [A/G] JHU_1.14584506 1 14584507 [A/T] JHU_1.14586098 1 14586099 [A/G] JHU_1.14589126 1 14589127 [A/C] JHU_1.14589572 1 14589573 [A/T] rs10754916 1 14594027 [T/C] rs74057132 1 14598010 [A/G] rs12406699 1 14598055 [T/C] JHU_1.14598564 1 14598565 [A/G] rs10492982 1 14599959 [T/C] rs16853862 1 14600128 [A/G] JHU_1.14600513 1 14600514 [A/C] rs7555815 1 14603198 [T/C] rs74616043 1 14603794 [T/C] rs140141615 1 14603847 [T/G] JHU_1.14604301 1 14604302 [T/C] JHU_1.14605607 1 14605608 [T/C] rs75914458 1 14605948 [A/G] rs11808667 1 14607341 [A/G] rs1953830 1 14607943 [T/C] rs141428207 1 14611033 [T/G] rs16853868 1 14612384 [T/C] rs1416628 1 14621842 [T/C] rs7527386 1 14625524 [A/T] JHU_1.14626063 1 14626064 [T/C] rs72644452 1 14628054 [T/C] rs1416625 1 14629449 [A/G] rs1416624 1 14629604 [T/C] rs150120691 1 14630475 [T/C] JHU_1.14631451 1 14631452 [A/T] JHU_1.14632162 1 14632163 [C/G] JHU_1.14632297 1 14632298 [A/G] rs12040547 1 14632599 [A/G] rs2027316 1 14633150 [T/C] rs1578131 1 14634803 [A/C] rs946481 1 14635852 [A/C] JHU_1.14636038 1 14636039 [T/C] rs34724589 1 14637524 [T/G] rs6664943 1 14639101 [T/G] rs146466036 1 14641683 [A/G] rs78885328 1 14645257 [T/C] JHU_1.14645508 1 14645509 [T/A] rs76297118 1 14646512 [A/G] rs1416623 1 14649876 [T/C] rs77192355 1 14652206 [C/G] rs12568762 1 14652365 [T/C] rs11808849 1 14653528 [A/C] rs16853956 1 14654223 [T/C] rs12093888 1 14654587 [A/G] rs16853960 1 14655424 [A/G] rs6663380 1 14656058 [T/C] rs820626 1 14657100 [T/G] JHU_1.14661233 1 14661234 [T/G] rs820621 1 14662719 [T/C] rs2993797 1 14668269 [A/G] rs16853991 1 14668317 [A/C] rs2487752 1 14668900 [T/C] rs2794609 1 14670152 [C/G] JHU_1.14670211 1 14670212 [A/C] rs139127800 1 14670351 [A/G] rs2486320 1 14671314 [A/G] rs768724 1 14672312 [A/G] rs2789746 1 14673025 [A/G] rs75805192 1 14674266 [T/C] rs79502370 1 14676163 [A/G] NR_149058 KAZN-AS1 Silent rs7355173 1 14676909 [T/C] NR_149058 KAZN-AS1 Silent rs12404580 1 14677380 [A/G] NR_149058 KAZN-AS1 EXON Silent rs77171346 1 14678082 [T/C] NR_149058 KAZN-AS1 Silent rs3897492 1 14678726 [A/G] NR_149058 KAZN-AS1 Silent JHU_1.14679149 1 14679150 [T/C] NR_149058 KAZN-AS1 Silent rs6685167 1 14680780 [A/G] NR_149058 KAZN-AS1 Silent rs4111265 1 14688607 [T/C] NR_149058 KAZN-AS1 Silent JHU_1.14691917 1 14691918 [G/C] NR_149058 KAZN-AS1 Silent rs820671 1 14692271 [A/G] NR_149058 KAZN-AS1 Silent rs10927414 1 14692598 [T/G] NR_149058 KAZN-AS1 Silent rs117485518 1 14696503 [T/C] NR_149058 KAZN-AS1 Silent rs112334461 1 14696976 [A/G] NR_149058 KAZN-AS1 Silent rs80122113 1 14697698 [T/G] NR_149058 KAZN-AS1 Silent rs10754853 1 14699523 [T/C] NR_149058 KAZN-AS1 Silent JHU_1.14699701 1 14699702 [T/C] NR_149058 KAZN-AS1 Silent rs10803270 1 14700804 [A/G] NR_149058 KAZN-AS1 Silent rs10803271 1 14700829 [T/C] NR_149058 KAZN-AS1 Silent JHU_1.14702395 1 14702396 [A/C] NR_149058 KAZN-AS1 Silent rs7519457 1 14702567 [A/G] NR_149058 KAZN-AS1 Silent rs57937931 1 14702982 [T/C] NR_149058 KAZN-AS1 Silent rs11590846 1 14703854 [T/C] NR_149058 KAZN-AS1 Silent rs735832 1 14704676 [T/C] NR_149058 KAZN-AS1 Silent JHU_1.14705756 1 14705757 [T/C] NR_149058 KAZN-AS1 Silent rs148957239 1 14706954 [A/G] NR_149058 KAZN-AS1 Silent rs820666 1 14707476 [A/G] NR_149058 KAZN-AS1 Silent rs77186328 1 14707792 [T/C] NR_149058 KAZN-AS1 Silent rs117469591 1 14708803 [T/C] NR_149058 KAZN-AS1 Silent rs6670155 1 14718223 [T/C] NR_149058 KAZN-AS1 Silent rs76832792 1 14718615 [A/G] NR_149058 KAZN-AS1 Silent rs7527767 1 14718957 [T/C] NR_149058 KAZN-AS1 Silent JHU_1.14720360 1 14720361 [A/C] NR_149058 KAZN-AS1 Silent JHU_1.14720661 1 14720662 [T/C] NR_149058 KAZN-AS1 Silent JHU_1.14720983 1 14720984 [A/G] NR_149058 KAZN-AS1 Silent rs16850197 1 14721033 [A/G] NR_149058 KAZN-AS1 Silent JHU_1.14721603 1 14721604 [A/G] NR_149058 KAZN-AS1 Silent rs6658614 1 14724840 [C/G] NR_149058 KAZN-AS1 Silent JHU_1.14729114 1 14729115 [A/G] NR_149058 KAZN-AS1 Silent rs6696419 1 14729318 [A/G] NR_149058 KAZN-AS1 Silent JHU_1.14729858 1 14729859 [A/G] NR_149058 KAZN-AS1 Silent rs12405445 1 14732019 [T/C] NR_149058 KAZN-AS1 Silent JHU_1.14732103 1 14732104 [A/G] NR_149058 KAZN-AS1 Silent rs7513739 1 14732363 [T/G] NR_149058 KAZN-AS1 Silent JHU_1.14733257 1 14733258 [A/G] NR_149058 KAZN-AS1 Silent rs145021488 1 14735349 [A/G] NR_149058 KAZN-AS1 Silent rs79145133 1 14735727 [A/G] NR_149058 KAZN-AS1 Silent rs116851506 1 14737314 [A/G] NR_149058 KAZN-AS1 Silent rs115651360 1 14740150 [A/G] NR_149058 KAZN-AS1 Silent rs3928343 1 14740155 [T/C] NR_149058 KAZN-AS1 Silent rs12060778 1 14742970 [A/T] NR_149058 KAZN-AS1 Silent 1:14743917-G-A 1 14743917 [A/G] NR_149058 KAZN-AS1 Silent rs12130533 1 14744542 [T/C] NR_149058 KAZN-AS1 Silent rs183703568 1 14744722 [A/G] NR_149058 KAZN-AS1 Silent rs78967410 1 14746352 [T/C] NR_149058 KAZN-AS1 EXON Silent rs74476036 1 14746367 [A/G] NR_149058 KAZN-AS1 EXON Silent JHU_1.14751168 1 14751169 [A/G] rs74724543 1 14752452 [A/G] rs4370760 1 14752603 [A/G] rs10754856 1 14755827 [T/C] rs72870876 1 14759756 [A/C] rs2183102 1 14760634 [A/G] rs12078377 1 14761365 [A/G] JHU_1.14761978 1 14761979 [T/C] JHU_1.14762319 1 14762320 [T/C] JHU_1.14766495 1 14766496 [T/C] JHU_1.14770063 1 14770064 [T/G] rs12401776 1 14771398 [T/C] JHU_1.14772137 1 14772138 [A/C] rs12085004 1 14773232 [A/G] JHU_1.14775549 1 14775550 [T/C] rs6658316 1 14775805 [T/C] rs6658744 1 14776392 [A/C] rs16850259 1 14777904 [T/G] JHU_1.14778426 1 14778427 [T/C] rs6429661 1 14780811 [A/C] rs6682103 1 14782380 [T/G] JHU_1.14785751 1 14785752 [T/C] rs12122476 1 14786269 [T/C] JHU_1.14787684 1 14787685 [T/C] rs10927439 1 14788118 [G/C] rs17401833 1 14788274 [T/C] rs4661496 1 14790631 [T/C] rs2039819 1 14790747 [A/G] JHU_1.14792779 1 14792780 [A/G] JHU_1.14792831 1 14792832 [A/C] JHU_1.14796379 1 14796380 [A/G] rs2480057 1 14796432 [A/G] rs7547810 1 14797786 [T/A] rs2486774 1 14800247 [T/C] rs2486772 1 14800369 [T/C] rs140154493 1 14801453 [T/C] rs74923602 1 14804498 [T/C] exm-rs7555566 1 14804874 [A/G] rs7555566 1 14804874 [A/G] rs2486764 1 14806750 [T/C] rs2486762 1 14807686 [T/C] JHU_1.14808251 1 14808252 [T/C] rs61771913 1 14808252 [T/C] rs2480061 1 14808756 [T/G] JHU_1.14809287 1 14809288 [A/G] rs118042764 1 14809947 [T/C] rs56307822 1 14813098 [G/C] rs10927442 1 14814759 [A/G] rs12129734 1 14819757 [A/G] JHU_1.14822915 1 14822916 [T/C] rs16850384 1 14822916 [T/C] rs12031064 1 14823637 [A/G] rs116513770 1 14824686 [A/G] rs12733612 1 14826029 [A/G] rs10803285 1 14830984 [A/C] rs10733135 1 14831066 [A/G] JHU_1.14835446 1 14835447 [A/G] rs6687225 1 14835710 [A/C] JHU_1.14837630 1 14837631 [T/C] JHU_1.14838088 1 14838089 [T/C] rs12047820 1 14838567 [T/C] rs5009206 1 14839485 [A/C] rs10927454 1 14840098 [T/C] rs11807837 1 14841189 [A/C] JHU_1.14841198 1 14841199 [C/G] rs12041172 1 14841706 [A/T] rs10803286 1 14842253 [T/C] rs12138326 1 14845459 [A/G] JHU_1.14846788 1 14846789 [T/C] rs6429666 1 14846801 [A/C] JHU_1.14846800 1 14846801 [A/C] rs3892594 1 14849088 [T/C] JHU_1.14849771 1 14849772 [A/G] rs148099700 1 14853057 [T/C] rs77829022 1 14853139 [A/G] JHU_1.14854857 1 14854858 [A/G] rs2105239 1 14857643 [A/G] rs75003443 1 14858314 [A/G] rs7540634 1 14859649 [T/C] rs1890784 1 14863561 [A/C] rs946734 1 14864070 [T/C] JHU_1.14864121 1 14864122 [A/C] JHU_1.14869656 1 14869657 [A/G] JHU_1.14870238 1 14870239 [A/G] rs10927460 1 14870568 [A/G] rs142165024 1 14871032 [A/G] rs4523510 1 14872671 [A/G] rs11576928 1 14873739 [A/G] rs12035490 1 14875595 [T/C] rs4385705 1 14876032 [A/G] rs142202562 1 14876915 [A/G] JHU_1.14877426 1 14877427 [T/C] JHU_1.14877879 1 14877880 [A/C] JHU_1.14877918 1 14877919 [T/C] JHU_1.14878216 1 14878217 [A/G] rs12038432 1 14878377 [T/C] JHU_1.14878688 1 14878689 [A/G] JHU_1.14878692 1 14878693 [A/G] JHU_1.14878713 1 14878714 [G/C] JHU_1.14878799 1 14878800 [A/G] JHU_1.14878833 1 14878834 [A/T] rs78222438 1 14878930 [T/C] JHU_1.14879154 1 14879155 [A/G] rs4233530 1 14880221 [T/C] rs72862096 1 14880751 [A/G] rs74324692 1 14882294 [T/G] rs17403250 1 14883844 [A/G] rs16850476 1 14885264 [T/C] JHU_1.14885653 1 14885654 [T/C] rs10927464 1 14887405 [T/G] rs74616300 1 14888942 [A/G] rs10927466 1 14890071 [A/G] rs148115735 1 14894051 [T/C] JHU_1.14896210 1 14896211 [T/C] rs12041422 1 14899230 [A/G] rs10927468 1 14901191 [A/G] JHU_1.14901363 1 14901364 [A/G] rs7527439 1 14902252 [A/G] JHU_1.14902827 1 14902828 [A/G] JHU_1.14903536 1 14903537 [T/C] rs114024844 1 14904535 [A/G] rs148551922 1 14904604 [A/G] rs1317249 1 14905843 [T/C] rs145263556 1 14906188 [A/G] rs2103694 1 14908073 [A/G] rs10803288 1 14908839 [A/C] rs77341677 1 14910843 [T/C] rs6685406 1 14910920 [A/G] rs4661292 1 14915147 [A/G] rs17361593 1 14915802 [C/G] JHU_1.14915829 1 14915830 [A/G] JHU_1.14917674 1 14917675 [T/C] rs117644951 1 14919534 [A/G] JHU_1.14922721 1 14922722 [A/G] JHU_1.14922805 1 14922806 [A/G] rs9429260 1 14922806 [A/G] 1:14925691-CA 1 14925691 [A/C] NM_015209,NM_201628 KAZN,KAZN EXON Missense_N66K,Missense_N66K 1:14925719-GT 1 14925719 [T/G] NM_015209,NM_201628 KAZN,KAZN EXON Missense_V76L,Missense_V76L JHU_1.14926265 1 14926266 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.14927181 1 14927182 [A/T] NM_015209,NM_201628 KAZN,KAZN Silent,Silent 1:14933509-A-T 1 14933509 [A/T] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs112716054 1 14933910 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs10803289 1 14934220 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs517267 1 14935304 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs761195 1 14935981 [C/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.14935984 1 14935985 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs11576795 1 14937702 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.14943649 1 14943650 [A/T] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs11579756 1 14947920 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12085951 1 14951601 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.14956369 1 14956370 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs150055073 1 14958026 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.14960377 1 14960378 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6690379 1 14961661 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs77048522 1 14963447 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.14965076 1 14965077 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs10927475 1 14967039 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs76751311 1 14973030 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs74058927 1 14973245 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6699411 1 14978291 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs74462377 1 14978804 [T/A] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.14980131 1 14980132 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs148478965 1 14980151 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs10927482 1 14981859 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs761191 1 14981920 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs147119312 1 14982106 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs78628059 1 14982694 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12092213 1 14984057 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661511 1 14986367 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs79237129 1 14986576 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.14986718 1 14986719 [C/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs145548829 1 14987407 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1028389 1 14994487 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs10927493 1 14994621 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent 1:14995519-A-T 1 14995519 [T/A] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs75170165 1 14997055 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6701296 1 14998872 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs144473607 1 14998932 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.14999418 1 14999419 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs187908342 1 14999764 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs77253534 1 15001522 [C/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15003506 1 15003507 [A/T] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs184370705 1 15003662 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15003708 1 15003709 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15008557 1 15008558 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2871581 1 15009937 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs138381740 1 15011135 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs10927501 1 15014423 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent 1:15021251-A-G 1 15021251 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs16850730 1 15023931 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15024104 1 15024105 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15024118 1 15024119 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661299 1 15029260 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs7534010 1 15032340 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661514 1 15033508 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs181222619 1 15039197 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs7516095 1 15039411 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs118063311 1 15039462 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15042179 1 15042180 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6663124 1 15042747 [T/A] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs115678679 1 15046378 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs10803306 1 15046970 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs77400807 1 15047110 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12758392 1 15048326 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15048658 1 15048659 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs55978877 1 15048988 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15049894 1 15049895 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs144984373 1 15050071 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15050163 1 15050164 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661517 1 15050524 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs78738592 1 15051653 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs10927521 1 15053041 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6658908 1 15056096 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2050126 1 15056175 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15057647 1 15057648 [G/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs116998194 1 15057961 [T/A] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12093159 1 15058435 [A/T] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2050124 1 15061856 [G/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs111662933 1 15062547 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15063086 1 15063087 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1997762 1 15067407 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs115618685 1 15067573 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs79089987 1 15067580 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6660333 1 15068997 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs3795755 1 15071735 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6429674 1 15072614 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs72868433 1 15073564 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs75003281 1 15075924 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6661767 1 15077567 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661522 1 15078316 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs188253155 1 15079020 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs59891391 1 15079569 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs74682576 1 15080278 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4357518 1 15080560 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6672687 1 15081424 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15081780 1 15081781 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs117944158 1 15081959 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12077384 1 15088732 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4543785 1 15089767 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs35437590 1 15089952 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15090708 1 15090709 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12093747 1 15092769 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs732470 1 15093471 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs732469 1 15093562 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs77899947 1 15094415 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs7526230 1 15095166 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs77167532 1 15095757 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12141342 1 15096263 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs74497613 1 15096360 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15099647 1 15099648 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15099721 1 15099722 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs74058883 1 15099800 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15099855 1 15099856 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15100112 1 15100113 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15100215 1 15100216 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15100800 1 15100801 [C/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661303 1 15101472 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15103133 1 15103134 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12095384 1 15103850 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs182102402 1 15103944 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs144696480 1 15105039 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs115633572 1 15107141 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs72636662 1 15107254 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs804125 1 15111927 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15113201 1 15113202 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs74059359 1 15113647 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs149891102 1 15114520 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1721830 1 15115875 [T/A] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1721829 1 15117060 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15119167 1 15119168 [C/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2744866 1 15119170 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2011956 1 15120133 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs879019 1 15120969 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15121203 1 15121204 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs55735734 1 15124248 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1737349 1 15124318 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs804130 1 15125699 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15125753 1 15125754 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15125891 1 15125892 [A/T] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs113337730 1 15126273 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs181044966 1 15126932 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs74874137 1 15127566 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs59861862 1 15129859 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12144050 1 15130018 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6671788 1 15130227 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs804135 1 15130870 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs11590716 1 15131141 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs11581911 1 15132634 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs804136 1 15133668 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15133825 1 15133826 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs3933177 1 15136206 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs3845590 1 15138738 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs61772303 1 15139368 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs77850690 1 15142350 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15142363 1 15142364 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs10489354 1 15144305 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs3820612 1 15147316 [T/A] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs77625726 1 15149493 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15152437 1 15152438 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15153368 1 15153369 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15153684 1 15153685 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15154012 1 15154013 [C/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15154278 1 15154279 [C/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs75930642 1 15154521 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15154592 1 15154593 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12134149 1 15154630 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15154981 1 15154982 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs74059606 1 15155670 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2103117 1 15156736 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12033748 1 15160357 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15161148 1 15161149 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15161464 1 15161465 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15161910 1 15161911 [G/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs75385087 1 15161977 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs56284241 1 15166229 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15166380 1 15166381 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs11585327 1 15167003 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs804132 1 15169335 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15174787 1 15174788 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15175204 1 15175205 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15175429 1 15175430 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15175916 1 15175917 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15178794 1 15178795 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs61773569 1 15179505 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15181899 1 15181900 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15182080 1 15182081 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15182541 1 15182542 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15183063 1 15183064 [C/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15183209 1 15183210 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15183243 1 15183244 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15184327 1 15184328 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15184624 1 15184625 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2103116 1 15185229 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs3845596 1 15189299 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs3765381 1 15190029 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15190418 1 15190419 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs140394521 1 15191145 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12734818 1 15191252 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2803399 1 15192559 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15194469 1 15194470 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15194558 1 15194559 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15195019 1 15195020 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2807552 1 15195444 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15197419 1 15197420 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12564579 1 15197814 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent 1:14873053del56 1 15199550 [I/D] NM_015209,NM_201628 KAZN,KAZN JHU_1.15201014 1 15201015 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661540 1 15202204 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs75942161 1 15202607 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs74059639 1 15203004 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs150408000 1 15205029 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15206213 1 15206214 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15209995 1 15209996 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs7525175 1 15210141 [A/T] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2801184 1 15211527 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2690024 1 15211824 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15213684 1 15213685 [G/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15213818 1 15213819 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15214155 1 15214156 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15214193 1 15214194 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15214647 1 15214648 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15214693 1 15214694 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs76663268 1 15215174 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15217091 1 15217092 [C/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1524160 1 15218331 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs141651191 1 15220545 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2801175 1 15224744 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs76393719 1 15224917 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15225197 1 15225198 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2807555 1 15226055 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2807556 1 15231026 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661546 1 15231846 [C/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs79069962 1 15234117 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15236167 1 15236168 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15239192 1 15239193 [C/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15240100 1 15240101 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2801180 1 15240575 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2489772 1 15244761 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent JHU_1.15247406 1 15247407 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs80173829 1 15251564 [T/C] NM_015209,NM_201628,NM_001018000 KAZN,KAZN,KAZN Silent,Silent,Silent rs75607703 1 15253740 [T/C] NM_015209,NM_201628,NM_001018000 KAZN,KAZN,KAZN Silent,Silent,Silent JHU_1.15254350 1 15254351 [A/G] NM_015209,NM_201628,NM_001018000 KAZN,KAZN,KAZN Silent,Silent,Silent JHU_1.15254484 1 15254485 [A/G] NM_015209,NM_201628,NM_001018000 KAZN,KAZN,KAZN Silent,Silent,Silent rs74059666 1 15255359 [T/C] NM_015209,NM_201628,NM_001018000 KAZN,KAZN,KAZN Silent,Silent,Silent rs59572147 1 15256352 [C/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN EXON Silent,Silent,Silent,Silent rs74059668 1 15257276 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent JHU_1.15257646 1 15257647 [C/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs10927583 1 15258425 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs149883828 1 15262303 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs12739376 1 15262708 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs77197240 1 15262838 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs6679057 1 15264410 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs6693394 1 15265404 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs61773638 1 15266095 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent JHU_1.15267101 1 15267102 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs12741828 1 15267837 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs55672852 1 15269805 [T/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs9663010 1 15271022 [C/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent JHU_1.15273500 1 15273501 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15273739 1 15273740 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15273829 1 15273830 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12033073 1 15273945 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs57896007 1 15274414 [T/A] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7552994 1 15274963 [T/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs78567892 1 15275222 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15275795 1 15275796 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927594 1 15278436 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs115676284 1 15278460 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7522410 1 15280823 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7514440 1 15283217 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs145487232 1 15284185 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs11485048 1 15285044 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm2264990 1 15286096 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6429696 1 15286805 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent 1:15287188-CT 1 15287188 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_R79W,Missense_R79W,Missense_R73W,Silent,Silent exm18885 1 15287201 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_S83L,Missense_S83L,Missense_S77L,Silent,Silent chr1_15287231 1 15287231 [T/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_R93L,Missense_R93L,Missense_R87L,Silent,Silent 1:15287279-GA 1 15287279 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_G109D,Missense_G109D,Missense_G103D,Missense_G15D,Missense_G15D rs1398823 1 15289376 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10754875 1 15294031 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7544674 1 15297249 [T/A] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent 1:15303919-A-G 1 15303919 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12084008 1 15303970 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7522712 1 15307478 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927616 1 15313262 [T/A] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs371350824 1 15315157 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7531035 1 15315176 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12409399 1 15317488 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15320080 1 15320081 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15320268 1 15320269 [T/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs4661310 1 15320449 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs16849136 1 15320461 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15321366 1 15321367 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15322461 1 15322462 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15322540 1 15322541 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs67765457 1 15322642 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs182687941 1 15322669 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15322668 1 15322669 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs72639818 1 15322963 [C/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs1316257 1 15323416 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs111593797 1 15324651 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15324820 1 15324821 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs148182409 1 15324821 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15324904 1 15324905 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15326012 1 15326013 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10449296 1 15326442 [T/A] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs76988519 1 15326477 [T/A] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs75306328 1 15328112 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7529561 1 15328151 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs16851112 1 15328697 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927627 1 15331802 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7538631 1 15332928 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs72867873 1 15332954 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15333579 1 15333580 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15333747 1 15333748 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs17404774 1 15337799 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs72639822 1 15338235 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15338404 1 15338405 [C/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15338937 1 15338938 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs938250 1 15339092 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7536670 1 15339637 [C/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7550877 1 15340261 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs4661563 1 15341413 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs938252 1 15344936 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927631 1 15346330 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs61772181 1 15346711 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12025960 1 15346909 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6667220 1 15347640 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs78602379 1 15348109 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12738665 1 15350123 [T/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs75354212 1 15350737 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs2871890 1 15351907 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6684496 1 15352820 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12081961 1 15354997 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15355688 1 15355689 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs55698907 1 15355982 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs2175771 1 15357505 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs4520412 1 15359967 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent 1:15361349-GA 1 15361349 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_D175N,Missense_D175N,Missense_D169N,Missense_D81N,Missense_D81N JHU_1.15361953 1 15361954 [T/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs60772118 1 15361954 [T/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs112601302 1 15362605 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15362625 1 15362626 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs114037461 1 15362682 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15363515 1 15363516 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927642 1 15364855 [T/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12139386 1 15365648 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs4661314 1 15366690 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927653 1 15368553 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm1715736 1 15370498 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_A190V,Missense_A190V,Missense_A184V,Missense_A96V,Missense_A96V 1:15370555-GA 1 15370555 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_R209Q,Missense_R209Q,Missense_R203Q,Missense_R115Q,Missense_R115Q exm18935 1 15370588 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_T220M,Missense_T220M,Missense_T214M,Missense_T126M,Missense_T126M rs6704367 1 15371332 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15372270 1 15372271 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15372346 1 15372347 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15372985 1 15372986 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs59249352 1 15373089 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15373172 1 15373173 [G/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15373532 1 15373533 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15373879 1 15373880 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15375045 1 15375046 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs16851179 1 15377086 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs761288 1 15377687 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15381161 1 15381162 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs742663 1 15382140 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm18940 1 15382587 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_A243T,Missense_A243T,Missense_A237T,Missense_A149T,Missense_A149T 1:15382751-CA 1 15382751 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_H297Q,Missense_H297Q,Missense_H291Q,Missense_H203Q,Missense_H203Q exm18952 1 15382771 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_R304Q,Missense_R304Q,Missense_R298Q,Missense_R210Q,Missense_R210Q JHU_1.15384033 1 15384034 [C/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent JHU_1.15386421 1 15386422 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent 1:15386679-AC 1 15386679 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_S310R,Missense_S310R,Missense_S304R,Missense_S216R,Missense_S216R 1:15386725-CT 1 15386725 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_A325V,Missense_A325V,Missense_A319V,Missense_A231V,Missense_A231V rs2076566 1 15389862 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent 1:15390080-GA 1 15390080 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_G354S,Missense_G354S,Missense_G348S,Missense_G260S,Missense_G260S JHU_1.15391500 1 15391501 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12057431 1 15392450 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Silent,Silent,Silent,Silent,Silent JHU_1.15392597 1 15392598 [T/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Silent,Silent,Silent,Silent,Silent rs9943244 1 15395881 [A/C] NM_201628 KAZN Silent JHU_1.15398246 1 15398247 [T/C] NM_201628 KAZN Silent rs61772198 1 15399054 [A/G] NM_201628 KAZN Silent rs4661317 1 15400054 [T/G] NM_201628 KAZN Silent rs16851241 1 15401158 [A/C] NM_201628 KAZN Silent rs58489848 1 15402127 [T/C] NM_201628 KAZN Silent rs4661572 1 15402156 [A/G] NM_201628 KAZN Silent rs72639887 1 15404099 [A/G] NM_201628 KAZN Silent rs10489454 1 15405089 [C/G] NM_201628 KAZN Silent rs1000313 1 15405489 [A/G] NM_201628 KAZN Silent rs2175774 1 15406696 [A/G] NM_201628 KAZN Silent JHU_1.15407664 1 15407665 [T/C] NM_201628 KAZN Silent rs115006714 1 15407733 [T/C] NM_201628 KAZN Silent rs17372042 1 15410037 [A/G] NM_201628 KAZN Silent rs148880842 1 15411239 [T/C] NM_201628 KAZN Silent rs6669698 1 15411661 [A/G] NM_201628 KAZN Silent rs10927670 1 15412415 [T/G] NM_201628 KAZN Silent rs4661575 1 15414413 [T/C] NM_201628 KAZN Silent rs71631709 1 15414534 [T/G] NM_201628 KAZN Silent rs12564054 1 15417246 [T/A] NM_201628 KAZN Silent rs78156947 1 15419768 [T/G] NM_201628 KAZN Silent exm18992 1 15420859 [T/C] NM_201628 KAZN EXON Missense_T469M JHU_1.15421540 1 15421541 [T/C] NM_201628 KAZN Silent rs61772225 1 15423477 [A/C] NM_201628 KAZN Silent JHU_1.15424983 1 15424984 [T/C] NM_201628 KAZN Silent JHU_1.15425945 1 15425946 [T/C] NM_201628 KAZN Silent JHU_1.15425956 1 15425957 [T/G] NM_201628 KAZN Silent JHU_1.15426102 1 15426103 [T/C] NM_201628 KAZN Silent JHU_1.15426215 1 15426216 [T/C] NM_201628 KAZN Silent JHU_1.15426280 1 15426281 [A/C] NM_201628 KAZN Silent JHU_1.15426381 1 15426382 [A/C] NM_201628 KAZN Silent JHU_1.15426470 1 15426471 [T/G] NM_201628 KAZN Silent JHU_1.15426496 1 15426497 [A/C] NM_201628 KAZN Silent JHU_1.15426593 1 15426594 [A/C] NM_201628 KAZN Silent JHU_1.15426617 1 15426618 [T/C] NM_201628 KAZN Silent JHU_1.15426779 1 15426780 [A/G] NM_201628 KAZN Silent JHU_1.15426805 1 15426806 [T/G] NM_201628 KAZN Silent JHU_1.15427046 1 15427047 [T/A] NM_201628 KAZN Silent JHU_1.15427933 1 15427934 [T/C] NM_201628 KAZN Silent 1:15428136-CA 1 15428136 [A/C] NM_201628 KAZN EXON Missense_L549M 1:15428222-CA 1 15428222 [A/C] NM_201628 KAZN EXON Missense_S577R rs59746931 1 15429094 [A/C] NM_201628 KAZN Silent exm19005 1 15429876 [T/C] NM_201628 KAZN EXON Missense_R601C exm19006 1 15429886 [T/C] NM_201628 KAZN EXON Missense_T604M rs6695209 1 15430895 [A/G] NM_201628 KAZN Silent rs523125 1 15430933 [A/G] NM_201628 KAZN Silent rs494983 1 15431657 [T/G] NM_201628 KAZN Silent rs508873 1 15432463 [A/G] NM_201628 KAZN Silent JHU_1.15434438 1 15434439 [T/C] NM_201628 KAZN Silent rs11808658 1 15434541 [A/C] NM_201628 KAZN Silent rs496567 1 15435257 [A/G] NM_201628 KAZN Silent rs11584281 1 15435861 [A/G] NM_201628 KAZN Silent 1:15438937-GA 1 15438937 [A/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_R688Q,Silent 1:15438958-CT 1 15438958 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_T695M,Silent exm19023 1 15438990 [A/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_A706T,Silent exm19024 1 15439009 [A/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_S712N,Silent 1:15439036-GA 1 15439036 [A/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_R721Q,Silent JHU_1.15439805 1 15439806 [C/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent JHU_1.15440177 1 15440178 [C/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs74757967 1 15440831 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent JHU_1.15440830 1 15440831 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent exm19032 1 15441090 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Missense_R763C,Silent rs1055412 1 15441275 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs2235789 1 15442058 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent JHU_1.15442166 1 15442167 [C/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs41307761 1 15442556 [G/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs79302126 1 15443378 [A/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs2235787 1 15443476 [G/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs72640735 1 15443631 [C/G] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs2235784 1 15444288 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs13375820 1 15446168 [A/G] NR_027136 TMEM51-AS1 Silent rs60794989 1 15446868 [A/C] NR_027136 TMEM51-AS1 Silent JHU_1.15449890 1 15449891 [T/C] NR_027136 TMEM51-AS1 Silent rs76527907 1 15450914 [T/C] NR_027136 TMEM51-AS1 Silent JHU_1.15451350 1 15451351 [A/C] NR_027136 TMEM51-AS1 Silent rs77822160 1 15452235 [T/G] NR_027136 TMEM51-AS1 Silent rs4661578 1 15455423 [T/C] NR_027136 TMEM51-AS1 Silent JHU_1.15456208 1 15456209 [A/G] NR_027136 TMEM51-AS1 Silent JHU_1.15456295 1 15456296 [C/G] NR_027136 TMEM51-AS1 Silent JHU_1.15456538 1 15456539 [C/G] NR_027136 TMEM51-AS1 Silent JHU_1.15457349 1 15457350 [C/G] NR_027136 TMEM51-AS1 Silent rs1883763 1 15458426 [T/C] NR_027136 TMEM51-AS1 Silent JHU_1.15458945 1 15458946 [T/C] NR_027136 TMEM51-AS1 Silent JHU_1.15459306 1 15459307 [T/C] NR_027136 TMEM51-AS1 Silent JHU_1.15459311 1 15459312 [T/G] NR_027136 TMEM51-AS1 Silent JHU_1.15460558 1 15460559 [T/A] NR_027136 TMEM51-AS1 Silent JHU_1.15460580 1 15460581 [T/G] NR_027136 TMEM51-AS1 Silent rs78274527 1 15460624 [T/C] NR_027136 TMEM51-AS1 Silent rs35020343 1 15463731 [T/G] NR_027136 TMEM51-AS1 Silent rs6429711 1 15467263 [T/C] NR_027136 TMEM51-AS1 Silent rs72640763 1 15468778 [A/C] NR_027136 TMEM51-AS1 Silent JHU_1.15469481 1 15469482 [A/G] NR_027136 TMEM51-AS1 Silent rs761301 1 15471992 [T/G] NR_027136 TMEM51-AS1 Silent rs118114731 1 15473775 [T/C] NR_027136 TMEM51-AS1 Silent rs61782686 1 15475314 [A/G] NR_027136 TMEM51-AS1 Silent JHU_1.15475674 1 15475675 [C/G] NR_027136 TMEM51-AS1 Silent rs117778294 1 15476602 [A/G] NR_027136 TMEM51-AS1 Silent rs1883761 1 15477865 [A/G] NR_027136 TMEM51-AS1 Silent rs1883760 1 15478017 [A/G] NR_027136 TMEM51-AS1 Silent rs4661582 1 15482932 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs150901045 1 15485934 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.15486048 1 15486049 [T/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs10489452 1 15489884 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs61561984 1 15490865 [T/A] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218,NM_001278502 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,C1orf195 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y64F rs7540957 1 15492032 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218,NM_001278502 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,C1orf195 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:15495100-CT 1 15495100 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218,NM_001278502,NM_001278501 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,C1orf195,C1orf195 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R91H 1:15495185-GA 1 15495185 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218,NM_001278502,NM_001278501 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,C1orf195,C1orf195 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R63C chr1_15495203 1 15495203 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218,NM_001278502,NM_001278501 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,C1orf195,C1orf195 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P57S rs16851354 1 15495620 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218,NM_001278502,NM_001278501 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,C1orf195,C1orf195 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4436387 1 15498452 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs17385885 1 15500215 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs72640795 1 15503303 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs10927698 1 15504403 [T/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs12145963 1 15507197 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs4661594 1 15507952 [T/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.15508701 1 15508702 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs10737907 1 15509852 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.15511278 1 15511279 [A/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.15511619 1 15511620 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs11588628 1 15512222 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs761289 1 15514334 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs10927709 1 15516299 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs16851387 1 15518792 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs742671 1 15519417 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs12088124 1 15522936 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.15528331 1 15528332 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs7536482 1 15530260 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs12028875 1 15530336 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.15531066 1 15531067 [G/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs74053443 1 15531100 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.15531139 1 15531140 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs78522579 1 15531424 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs17386788 1 15531447 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs17405193 1 15534303 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.15535115 1 15535116 [T/A] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs12070469 1 15537122 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs77106753 1 15538625 [T/A] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs1316533 1 15539483 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs74817457 1 15539615 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs6429728 1 15540685 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent rs16851430 1 15541018 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent 1:15541689-GA 1 15541689 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_G36S,Missense_G36S,Missense_G36S,Silent,Missense_G36S,Missense_G36S 1:15541769-CCTT-C 1 15541769 [I/D] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON 1:15541800-CG-C 1 15541800 [D/I] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON rs12057512 1 15544366 [A/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent,Silent,Silent chr1_15545861 1 15545861 [T/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_R128S,Missense_R128S,Missense_G127V,Silent,Missense_R128S,Missense_R128S exm19065 1 15545979 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D168N,Missense_D168N,Silent,Silent,Missense_D168N,Missense_D168N exm19066 1 15545997 [T/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_S174A,Missense_S174A,Silent,Silent,Missense_S174A,Missense_S174A exm19068 1 15546012 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_V179M,Missense_V179M,Silent,Silent,Missense_V179M,Missense_V179M chr1_15546036 1 15546036 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_P187S,Missense_P187S,Silent,Silent,Missense_P187S,Missense_P187S 1:15546040-AG 1 15546040 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D188G,Missense_D188G,Silent,Silent,Missense_D188G,Missense_D188G indel.979 1 15546052 [I/D] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON exm19077 1 15546150 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_V225I,Missense_V225I,Silent,Silent,Missense_V225I,Missense_V225I exm19080 1 15546219 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D248N,Missense_D248N,Silent,Silent,Missense_D248N,Missense_D248N 1:15546229-CT 1 15546229 [T/C] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_P251L,Missense_P251L,Silent,Silent,Missense_P251L,Missense_P251L exm19084 1 15546234 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D253N,Missense_D253N,Silent,Silent,Missense_D253N,Missense_D253N exm2249987 1 15546761 [A/G] NM_001136216,NM_001136217,NM_001319665,NR_135082,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51,TMEM51,TMEM51 EXON Silent,Silent,Silent,Silent,Silent,Silent rs10803369 1 15550525 [A/C] JHU_1.15551115 1 15551116 [A/T] rs68116492 1 15551156 [C/G] JHU_1.15551731 1 15551732 [T/A] rs12131525 1 15552870 [T/C] rs35442415 1 15553483 [T/C] JHU_1.15554240 1 15554241 [G/C] JHU_1.15554494 1 15554495 [T/G] JHU_1.15555615 1 15555616 [T/G] rs6429732 1 15558938 [T/C] rs12034146 1 15561181 [T/C] rs1780592 1 15562396 [T/C] rs58636266 1 15564121 [T/C] rs1752026 1 15564890 [A/G] rs10927744 1 15566699 [A/G] rs4644485 1 15566803 [T/C] JHU_1.15567472 1 15567473 [A/G] rs11585810 1 15569712 [A/G] rs75367058 1 15570904 [T/C] JHU_1.15570988 1 15570989 [T/C] JHU_1.15571196 1 15571197 [A/G] JHU_1.15571513 1 15571514 [T/C] JHU_1.15571612 1 15571613 [A/G] JHU_1.15572353 1 15572354 [A/G] rs117854897 1 15572436 [A/G] rs41269433 1 15578513 [A/G] NM_052929 FHAD1 Silent JHU_1.15578966 1 15578967 [A/G] NM_052929 FHAD1 Silent JHU_1.15579691 1 15579692 [A/G] NM_052929 FHAD1 Silent rs150742559 1 15580744 [T/C] NM_052929 FHAD1 Silent JHU_1.15581627 1 15581628 [A/C] NM_052929 FHAD1 Silent rs146004592 1 15581879 [A/T] NM_052929 FHAD1 Silent JHU_1.15582177 1 15582178 [A/G] NM_052929 FHAD1 Silent rs7520597 1 15585613 [T/G] NM_052929 FHAD1 Silent rs6676098 1 15588759 [T/C] NM_052929 FHAD1 Silent rs10927751 1 15589886 [A/G] NM_052929 FHAD1 Silent rs10927753 1 15591929 [T/C] NM_052929 FHAD1 Silent rs4661617 1 15593666 [T/C] NM_052929 FHAD1 Silent 1:15599021-CT 1 15599021 [T/C] NM_052929 FHAD1 EXON Missense_P99L exm19091 1 15599025 [A/G] NM_052929 FHAD1 EXON Synonymous_P100P rs10927757 1 15600049 [T/C] NM_052929 FHAD1 Silent rs10927758 1 15600085 [A/G] NM_052929 FHAD1 Silent rs77378398 1 15600653 [A/G] NM_052929 FHAD1 Silent rs752626 1 15602330 [T/C] NM_052929 FHAD1 Silent rs76841292 1 15604496 [T/C] NM_052929 FHAD1 Silent rs58390403 1 15604874 [T/C] NM_052929 FHAD1 Silent rs10927764 1 15606453 [T/C] NM_052929 FHAD1 Silent rs77232906 1 15607274 [T/C] NM_052929 FHAD1 Silent JHU_1.15608876 1 15608877 [T/G] NM_052929 FHAD1 Silent JHU_1.15608894 1 15608895 [T/C] NM_052929 FHAD1 Silent rs77826917 1 15609019 [T/G] NM_052929 FHAD1 Silent rs36072711 1 15609081 [A/G] NM_052929 FHAD1 Silent rs572953 1 15609117 [T/G] NM_052929 FHAD1 Silent rs10927765 1 15610004 [T/C] NM_052929 FHAD1 Silent rs1737344 1 15610609 [A/G] NM_052929 FHAD1 Silent JHU_1.15612224 1 15612225 [A/G] NM_052929 FHAD1 Silent rs115951691 1 15612225 [A/G] NM_052929 FHAD1 Silent rs536364 1 15613478 [A/G] NM_052929 FHAD1 Silent exm19096 1 15616087 [T/C] NM_052929 FHAD1 EXON Missense_R165W 1:15616100-CT 1 15616100 [T/C] NM_052929 FHAD1 EXON Missense_A169V 1:15616129-GT 1 15616129 [T/G] NM_052929 FHAD1 EXON Missense_D179Y exm19101 1 15616139 [A/G] NM_052929 FHAD1 EXON Missense_R182H exm19102 1 15616150 [A/G] NM_052929 FHAD1 EXON Missense_V186I JHU_1.15619758 1 15619759 [T/C] NM_052929 FHAD1 Silent JHU_1.15620338 1 15620339 [T/C] NM_052929 FHAD1 Silent rs78496000 1 15620733 [G/C] NM_052929 FHAD1 Silent rs7547507 1 15621708 [T/G] NM_052929 FHAD1 Silent exm19105 1 15623224 [T/G] NM_052929 FHAD1 EXON Missense_G205W 1:15623240-TC 1 15623240 [T/C] NM_052929 FHAD1 EXON Missense_V210A rs35516622 1 15623355 [A/T] NM_052929 FHAD1 Silent rs12076537 1 15625389 [T/G] NM_052929 FHAD1 Silent rs182292624 1 15625842 [A/G] NM_052929 FHAD1 Silent rs146984584 1 15627364 [T/G] NM_052929 FHAD1 Silent exm19108 1 15627776 [A/G] NM_052929 FHAD1 EXON Missense_V252I exm19109 1 15627824 [A/G] NM_052929 FHAD1 EXON Missense_V268M 1:15627855-GAGA-G 1 15627855 [I/D] NM_052929 FHAD1 EXON exm19112 1 15627910 [G/C] NM_052929 FHAD1 EXON Missense_Q296H rs145766246 1 15632030 [A/G] NM_052929 FHAD1 Silent exm19113 1 15635136 [A/C] NM_052929 FHAD1 EXON Missense_K315Q rs77209273 1 15638550 [A/G] NM_052929 FHAD1 Silent exm19118 1 15639551 [A/G] NM_052929 FHAD1 Silent variant.981 1 15639551 [A/G] NM_052929 FHAD1 Silent exm19119 1 15639581 [A/G] NM_052929 FHAD1 EXON Missense_I356M rs12562953 1 15640818 [T/C] NM_052929 FHAD1 Silent rs75000182 1 15641550 [T/G] NM_052929 FHAD1 Silent newrs138323342 1 15642963 [T/C] NM_052929 FHAD1 EXON Synonymous_T420T exm19124 1 15642964 [A/G] NM_052929 FHAD1 Silent rs477590 1 15643218 [A/G] NM_052929 FHAD1 Silent 1:15644392-GA 1 15644392 [A/G] NM_052929 FHAD1 EXON Missense_V445M rs7554324 1 15644729 [A/C] NM_052929 FHAD1 Silent JHU_1.15647170 1 15647171 [A/C] NM_052929 FHAD1 Silent rs504775 1 15649031 [A/G] NM_052929 FHAD1 Silent exm19127 1 15653555 [G/C] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 EXON Missense_L492V,Silent,Silent 1:15653597-CT 1 15653597 [T/C] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 EXON Missense_R506W,Silent,Silent JHU_1.15654544 1 15654545 [A/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 EXON Silent,Silent,Silent exm19139 1 15655944 [A/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 EXON Missense_V605M,Silent,Silent JHU_1.15657869 1 15657870 [A/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 Silent,Silent,Silent rs368635564 1 15659645 [A/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 Silent,Silent,Silent 1:15666025-TG 1 15666025 [T/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 Silent,Silent,Silent rs142684599 1 15666155 [C/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 Silent,Silent,Silent JHU_1.15666863 1 15666864 [A/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 Silent,Silent,Silent JHU_1.15667685 1 15667686 [A/C] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 Silent,Silent,Silent exm19145 1 15668276 [A/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 EXON Missense_G651R,Silent,Silent exm19147 1 15668319 [A/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 EXON Missense_R665Q,Silent,Silent 1:15668372-GA 1 15668372 [A/G] NM_052929,NR_148919,NR_148918 FHAD1,LOC101927417,LOC101927417 EXON Missense_G683R,Silent,Silent rs78596193 1 15670980 [T/G] NM_052929 FHAD1 Silent exm19151 1 15671649 [T/C] NM_052929 FHAD1 EXON Missense_M712T rs2479082 1 15674269 [T/C] NM_052929 FHAD1 Silent rs56767519 1 15675239 [T/G] NM_052929 FHAD1 Silent rs78487487 1 15675252 [A/G] NM_052929 FHAD1 Silent rs12033496 1 15676503 [A/G] NM_052929 FHAD1 Silent rs2479075 1 15676785 [T/C] NM_052929 FHAD1 Silent exm19159 1 15679404 [A/G] NM_052929 FHAD1 EXON Missense_R807H rs2473358 1 15680451 [T/G] NM_052929 FHAD1 Silent rs11582182 1 15683409 [A/T] NM_052929 FHAD1 Silent exm19162 1 15684661 [G/C] NM_052929 FHAD1 EXON Missense_A851G JHU_1.15686833 1 15686834 [T/C] NM_052929 FHAD1 Silent 1:15686990-GA 1 15686990 [A/G] NM_052929 FHAD1 EXON Missense_R896Q exm19172 1 15687059 [A/G] NM_052929 FHAD1 EXON Missense_E919G 1:15687170-AG 1 15687170 [A/G] NM_052929 FHAD1 EXON Missense_E956G 1:15687194-AG 1 15687194 [A/G] NM_052929 FHAD1 EXON Missense_D964G rs542008 1 15687814 [A/G] NM_052929 FHAD1 Silent rs6695106 1 15688045 [A/G] NM_052929 FHAD1 Silent exm19179 1 15689182 [A/T] NM_052929 FHAD1 EXON Missense_T981S 1:15689203-AG 1 15689203 [A/G] NM_052929 FHAD1 EXON Missense_M988V rs141503927 1 15693277 [A/G] NM_052929 FHAD1 Silent exm19184 1 15694072 [A/G] NM_052929 FHAD1 EXON Missense_V1068I rs3765364 1 15694137 [A/G] NM_052929 FHAD1 Silent rs41269443 1 15695842 [T/C] NM_052929 FHAD1 Silent 1:15695937-CT 1 15695937 [T/C] NM_052929 FHAD1 EXON Missense_T1107M rs876295 1 15697183 [A/G] NM_052929 FHAD1 Silent rs80252798 1 15698418 [T/C] NM_052929 FHAD1 Silent rs11589706 1 15700749 [A/G] NM_052929 FHAD1 Silent Variant37704 1 15701088 [T/C] NM_052929 FHAD1 EXON Nonsense_R1158X chr1_15701092 1 15701092 [T/C] NM_052929 FHAD1 EXON Missense_A1159V variant.986 1 15701094 [T/C] NM_052929 FHAD1 EXON Nonsense_R1160X exm19195 1 15701116 [T/C] NM_052929 FHAD1 EXON Missense_A1167V rs3765365 1 15701671 [A/G] NM_052929 FHAD1 Silent rs17368978 1 15702130 [A/G] NM_052929 FHAD1 EXON Synonymous_L1181L 1:15702189-CT 1 15702189 [T/C] NM_052929 FHAD1 EXON Missense_P1201L rs742365 1 15705031 [A/G] NM_052929 FHAD1 Silent rs7537277 1 15706540 [A/G] NM_052929 FHAD1 Silent 1:15707218-GA 1 15707218 [A/G] NM_052929 FHAD1 EXON Missense_A1221T JHU_1.15707713 1 15707714 [A/G] NM_052929 FHAD1 Silent exm19206 1 15707775 [A/G] NM_052929 FHAD1 EXON Missense_M1262V exm19207 1 15707853 [A/G] NM_052929 FHAD1 EXON Missense_D1288N rs113585544 1 15708274 [T/C] NM_052929 FHAD1 Silent 1:15708525-CT 1 15708525 [T/C] NM_052929 FHAD1 EXON Missense_R1320W rs1010294 1 15708540 [A/G] NM_052929 FHAD1 EXON Missense_I1325V exm19210 1 15708540 [A/G] NM_052929 FHAD1 EXON Missense_I1325V rs78238837 1 15708925 [G/C] NM_052929 FHAD1 Silent JHU_1.15708924 1 15708925 [G/C] NM_052929 FHAD1 Silent 1:15710381-CT 1 15710381 [T/C] NM_052929 FHAD1 Silent JHU_1.15710514 1 15710515 [T/C] NM_052929 FHAD1 Silent 1:15714859-TC 1 15714859 [T/C] NM_052929 FHAD1 Silent JHU_1.15715953 1 15715954 [A/C] NM_052929 FHAD1 Silent JHU_1.15716878 1 15716879 [A/T] NM_052929 FHAD1 Silent rs61701112 1 15718346 [A/C] NM_052929 FHAD1 Silent JHU_1.15719027 1 15719028 [A/G] NM_052929 FHAD1 Silent JHU_1.15720753 1 15720754 [G/C] NM_052929 FHAD1 Silent rs12562848 1 15720899 [A/C] NM_052929 FHAD1 Silent rs2253372 1 15724033 [A/G] NM_052929 FHAD1 EXON Silent rs742361 1 15726566 [A/G] rs55703621 1 15728274 [T/C] JHU_1.15728828 1 15728829 [T/A] rs111853844 1 15729378 [A/T] rs6429739 1 15731141 [T/C] JHU_1.15732106 1 15732107 [A/G] rs733887 1 15732793 [A/G] rs2092324 1 15733394 [A/G] rs6676602 1 15739387 [A/G] NM_024329 EFHD2 Silent rs6701793 1 15739608 [T/C] NM_024329 EFHD2 Silent rs72881520 1 15741860 [A/G] NM_024329 EFHD2 Silent rs75645745 1 15742568 [T/G] NM_024329 EFHD2 Silent rs2473351 1 15742689 [T/C] NM_024329 EFHD2 Silent JHU_1.15742828 1 15742829 [T/C] NM_024329 EFHD2 Silent JHU_1.15743247 1 15743248 [A/G] NM_024329 EFHD2 Silent rs2496320 1 15744271 [T/C] NM_024329 EFHD2 Silent JHU_1.15745138 1 15745139 [G/C] NM_024329 EFHD2 Silent rs7525279 1 15745380 [T/C] NM_024329 EFHD2 Silent 1:15745451-C-A 1 15745451 [A/C] NM_024329 EFHD2 Silent JHU_1.15745727 1 15745728 [A/G] NM_024329 EFHD2 Silent JHU_1.15745771 1 15745772 [A/G] NM_024329 EFHD2 Silent JHU_1.15745786 1 15745787 [A/C] NM_024329 EFHD2 Silent JHU_1.15746068 1 15746069 [A/C] NM_024329 EFHD2 Silent JHU_1.15746160 1 15746161 [C/G] NM_024329 EFHD2 Silent JHU_1.15746244 1 15746245 [T/C] NM_024329 EFHD2 Silent rs60181764 1 15747831 [T/C] NM_024329 EFHD2 Silent rs3765370 1 15753398 [T/G] NM_024329 EFHD2 Silent exm19232 1 15753662 [A/G] NM_024329 EFHD2 EXON Missense_R158H rs77325051 1 15754172 [C/G] NM_024329 EFHD2 Silent 1:15754460-CT 1 15754460 [T/C] NM_024329 EFHD2 Silent 1:15754470-CT 1 15754470 [T/C] NM_024329 EFHD2 Silent JHU_1.15755727 1 15755728 [T/A] NM_024329 EFHD2 EXON Silent JHU_1.15755801 1 15755802 [C/G] NM_024329 EFHD2 EXON Silent JHU_1.15756010 1 15756011 [A/C] NM_024329 EFHD2 EXON Silent rs117492771 1 15756238 [T/C] NM_024329 EFHD2 EXON Silent JHU_1.15756558 1 15756559 [T/C] NM_024329 EFHD2 EXON Silent rs117338853 1 15758944 [A/G] JHU_1.15759225 1 15759226 [G/C] rs6693417 1 15763340 [A/G] rs2744787 1 15764048 [A/G] JHU_1.15764216 1 15764217 [T/C] exm19258 1 15766865 [A/G] NM_007272 CTRC EXON Missense_R37Q Variant47995 1 15766999 [A/G] NM_007272 CTRC EXON Missense_Q48R rs121909294 1 15767020 [A/G] NM_007272 CTRC EXON Nonsense_W55X exm19262 1 15767020 [A/G] NM_007272 CTRC EXON Nonsense_W55X 1:15767026-AG 1 15767026 [A/G] NM_007272 CTRC EXON Missense_H57R Variant15866 1 15767043 [I/D] NM_007272 CTRC EXON ilmnseq_rs515726209 1 15767073 [A/G] NM_007272 CTRC EXON Missense_A73T 1:15767073-GA 1 15767073 [A/G] NM_007272 CTRC EXON Missense_A73T rs11586745 1 15768185 [A/G] NM_007272 CTRC Silent rs10436957 1 15768304 [A/G] NM_007272 CTRC Silent 1:15768963-TC 1 15768963 [T/C] NM_007272 CTRC EXON Missense_V84A 1:15768997-CT 1 15768997 [T/C] NM_007272 CTRC EXON Synonymous_D95D Variant15867 1 15769018 [D/I] NM_007272 CTRC EXON 1:15769029-CT 1 15769029 [T/C] NM_007272 CTRC EXON Missense_T106I exm19275 1 15769069 [A/G] NM_007272 CTRC Silent 1:15769926-CT 1 15769926 [T/C] NM_007272 CTRC EXON Synonymous_A123A exm19285 1 15771121 [A/G] NM_007272 CTRC EXON Missense_K172E rs200678111 1 15771140 [A/G] NM_007272 CTRC EXON Missense_Q178R 1:15771140-AG 1 15771140 [A/G] NM_007272 CTRC EXON Missense_Q178R 1:15771223-GA 1 15771223 [A/G] NM_007272 CTRC EXON Missense_D206N JHU_1.15771840 1 15771841 [A/C] NM_007272 CTRC Silent rs202058123 1 15772101 [A/G] NM_007272 CTRC EXON Missense_G217S Variant48001 1 15772101 [A/G] NM_007272 CTRC EXON Missense_G217S 1:15772126-AC 1 15772126 [A/C] NM_007272 CTRC EXON Missense_E225A 1:15772142-GA 1 15772142 [A/G] NM_007272 CTRC EXON Synonymous_E230E exm19296 1 15772155 [A/G] NM_007272 CTRC EXON Missense_V235I rs140993290 1 15772155 [A/G] NM_007272 CTRC EXON Missense_V235I Variant48004 1 15772173 [T/C] NM_007272 CTRC EXON Missense_R241W exm19300 1 15772188 [T/C] NM_007272 CTRC EXON Missense_R246C exm19302 1 15772198 [T/C] NM_007272 CTRC EXON Missense_P249L rs142560329 1 15772198 [T/C] NM_007272 CTRC EXON Missense_P249L exm19304 1 15772212 [T/C] NM_007272 CTRC EXON Missense_R254W rs121909293 1 15772212 [T/C] NM_007272 CTRC EXON Missense_R254W chr1_15772230 1 15772230 [A/G] NM_007272 CTRC EXON Missense_D260N Variant48006 1 15772230 [A/G] NM_007272 CTRC EXON Missense_D260N 1:15773108-CT 1 15773108 [T/C] NM_007272 CTRC EXON Silent 1:15773111-GT 1 15773111 [T/G] NM_007272 CTRC EXON Silent JHU_1.15774667 1 15774668 [T/C] rs2303194 1 15783081 [T/C] exm19322 1 15783635 [A/G] NM_033440 CELA2A EXON Missense_G32D rs7547591 1 15788789 [A/G] NM_033440 CELA2A Silent 1:15789244-CT 1 15789244 [T/C] NM_033440 CELA2A EXON Missense_R82C 1:15789245-GA 1 15789245 [A/G] NM_033440 CELA2A EXON Missense_R82H exm19338 1 15789260 [A/G] NM_033440 CELA2A EXON Missense_R87Q exm1720476 1 15789274 [A/G] NM_033440 CELA2A EXON Missense_V92I 1:15789290-CT 1 15789290 [T/C] NM_033440 CELA2A EXON Missense_S97L indel.1004 1 15789294 [I/D] NM_033440 CELA2A EXON exm19345 1 15789304 [T/G] NM_033440 CELA2A EXON Missense_V102F variant.1005 1 15789361 [A/G] NM_033440 CELA2A Silent rs79412974 1 15791778 [T/A] NM_033440 CELA2A Silent exm-rs2901964 1 15792426 [C/G] NM_033440 CELA2A Silent exm19366 1 15792497 [A/G] NM_033440 CELA2A EXON Missense_N166S exm19367 1 15792568 [A/G] NM_033440 CELA2A EXON Missense_A190T exm19368 1 15792586 [A/G] NM_033440 CELA2A EXON Missense_V196M rs75157332 1 15792740 [T/C] NM_033440 CELA2A Silent Variant37706 1 15793919 [T/C] NM_033440 CELA2A EXON Synonymous_D226D exm19374 1 15793924 [A/G] NM_033440 CELA2A EXON Missense_R228Q exm19385 1 15794011 [A/G] NM_033440 CELA2A EXON Missense_N257S exm19386 1 15794032 [T/C] NM_033440 CELA2A EXON Missense_S264L rs7556116 1 15796714 [A/G] NM_033440 CELA2A Silent rs10927791 1 15796808 [T/C] NM_033440 CELA2A Silent JHU_1.15798432 1 15798433 [T/C] NM_033440 CELA2A Silent 1:15798489-TC 1 15798489 [T/C] NM_033440 CELA2A EXON Missense_I266T JHU_1.15798935 1 15798936 [A/G] rs145744767 1 15798955 [A/G] rs72643668 1 15799075 [A/G] JHU_1.15801592 1 15801593 [T/C] rs72643675 1 15802925 [T/G] NM_015849 CELA2B Silent rs74054737 1 15803851 [T/C] NM_015849 CELA2B Silent exm19422 1 15808767 [A/G] NM_015849 CELA2B EXON Missense_G79R rs3820071 1 15808767 [A/G] NM_015849 CELA2B EXON Missense_G79R exm19431 1 15808872 [A/G] NM_015849 CELA2B EXON Missense_D114N rs12130370 1 15810624 [T/C] NM_015849 CELA2B Silent rs143543211 1 15811223 [T/C] NM_015849 CELA2B Silent rs148560379 1 15812400 [T/C] NM_015849 CELA2B EXON Synonymous_N166N exm19439 1 15812401 [A/G] NM_015849 CELA2B EXON Missense_G167R exm19441 1 15812432 [A/G] NM_015849 CELA2B EXON Missense_Q177R JHU_1.15813835 1 15813836 [T/C] NM_015849 CELA2B EXON Synonymous_H232H exm19458 1 15813844 [T/G] NM_015849 CELA2B EXON Missense_G235V chr1_15813856 1 15813856 [T/C] NM_015849 CELA2B EXON Missense_S239L exm19460 1 15813891 [A/G] NM_015849 CELA2B EXON Missense_I251V rs75009106 1 15815037 [A/G] NM_015849 CELA2B Silent rs190966986 1 15816253 [C/G] NM_015849 CELA2B Silent JHU_1.15816771 1 15816772 [T/C] NM_015849 CELA2B Silent rs114738079 1 15817507 [A/C] NM_015849 CELA2B Silent rs28451126 1 15817663 [T/C] NM_015849 CELA2B Silent 1:15819467-GA 1 15819467 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_R408W,Silent,Missense_R258W,Missense_R325W rs4646099 1 15820051 [T/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent 1:15820286-TG 1 15820286 [T/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent Variant25 1 15820307 [D/I] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 exm19473 1 15820448 [T/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_T366N,Silent,Missense_T216N,Missense_T283N rs61738967 1 15820448 [T/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_T366N,Silent,Missense_T216N,Missense_T283N rs4646092 1 15821673 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent rs4661636 1 15823061 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent rs6685648 1 15825195 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent rs4646064 1 15829803 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent rs4646053 1 15830974 [T/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent rs200754043 1 15831151 [T/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_L275M,Silent,Silent,Missense_L192M rs4646049 1 15831460 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent rs4646048 1 15831653 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent exm19495 1 15832495 [T/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_H237P,Silent,Silent,Missense_H154P exm19502 1 15832543 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_Q221R,Silent,Silent,Missense_Q138R rs4646037 1 15833345 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent exm19507 1 15833399 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_A209T,Silent,Silent,Missense_A126T exm19511 1 15833450 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_R192C,Silent,Silent,Missense_R109C exm2277005 1 15833469 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Synonymous_I185I,Silent,Silent,Synonymous_I102I 1:15833488-GA 1 15833488 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_T179I,Silent,Silent,Missense_T96I exm19521 1 15833506 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_R173H,Silent,Silent,Missense_R90H exm19525 1 15833555 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_M157V,Silent,Silent,Missense_M74V rs4646015 1 15843635 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent newrs138664729 1 15844605 [T/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_G140S,Silent,Missense_E140K,Missense_G57S exm19530 1 15844606 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Synonymous_V139V,Silent,Synonymous_V139V,Synonymous_V56V indel.1014 1 15844626 [I/D] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON 1:15844652-TG 1 15844652 [T/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_E124A,Silent,Missense_E124A,Missense_E41A exm19536 1 15844653 [A/C] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Nonsense_E124X,Silent,Nonsense_E124X,Nonsense_E41X rs139430022 1 15844655 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_P123L,Silent,Missense_P123L,Missense_P40L exm19537 1 15844655 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_P123L,Silent,Missense_P123L,Missense_P40L exm19541 1 15844718 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_T102I,Silent,Missense_T102I,Missense_T19I exm19545 1 15844755 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Nonsense_R90X,Silent,Nonsense_R90X,Nonsense_R7X exm19554 1 15844872 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_R51W,Silent,Missense_R51W,Silent rs372224673 1 15850290 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 Silent,Silent,Silent,Silent,Silent exm19561 1 15850613 [A/G] NR_102732,NM_001229,NR_102733,NM_001278054,NM_032996 CASP9,CASP9,CASP9,CASP9,CASP9 EXON Silent,Missense_A28V,Silent,Missense_A28V,Silent 1:15852034-C-T 1 15852034 [T/C] exm19571 1 15855642 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_I14M,Silent 1:15855662-AC 1 15855662 [A/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_Q21P,Silent exm19578 1 15855760 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_R54W,Silent exm1720950 1 15855761 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_R54Q,Silent rs10927796 1 15857134 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 Silent,Silent,Silent JHU_1.15859199 1 15859200 [T/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 Silent,Silent,Silent newrs11583306 1 15860803 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 Silent,Silent,Silent JHU_1.15862856 1 15862857 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 Silent,Silent,Silent variant.1017 1 15863057 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Nonsense_R108X,Silent 1:15863058-GA 1 15863058 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_R108Q,Silent 1:15863271-CA 1 15863271 [A/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_P179H,Silent rs12124078 1 15869899 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 Silent,Silent,Silent JHU_1.15870645 1 15870646 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 Silent,Silent,Silent 1:15870963-CT 1 15870963 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_T215M,Silent 1:15870989-GA 1 15870989 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_G224R,Silent exm19603 1 15871023 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_R235H,Silent rs117099609 1 15871128 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 Silent,Silent,Silent 1:15873346-AG 1 15873346 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Missense_I282V,Silent rs148785407 1 15885887 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 Silent,Silent,Silent variant.1019 1 15886024 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Nonsense_R31X,Nonsense_R343X,Silent exm19623 1 15886040 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_Q36R,Missense_Q348R,Silent newrs148404423 1 15886141 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Nonsense_R70X,Nonsense_R382X,Silent exm19629 1 15888644 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_V76M,Missense_V388M,Silent variant.1021 1 15888820 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Synonymous_A134A,Synonymous_A446A,Silent exm19633 1 15890424 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_V135M,Missense_V447M,Silent exm19635 1 15890443 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_R141H,Missense_R453H,Silent 1:15890542-GA 1 15890542 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_R174H,Missense_R486H,Silent exm19647 1 15892577 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Synonymous_S248S,Synonymous_S560S,Silent exm19648 1 15892578 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_D249N,Missense_D561N,Silent 1:15892668-AG 1 15892668 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_N279D,Missense_N591D,Silent exm2231565 1 15893676 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_G309S,Missense_G621S,Silent 1:15894475-GA 1 15894475 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_E406K,Missense_E718K,Silent 1:15894527-TC 1 15894527 [T/C] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Missense_L423P,Missense_L735P,Silent indel.1022 1 15894671 [I/D] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON rs41307767 1 15895055 [A/G] NM_001287811,NM_015291,NR_109898 DNAJC16,DNAJC16,DNAJC16 EXON Silent,Silent,Silent indel.1023 1 15900213 [I/D] NM_024758 AGMAT EXON JHU_1.15900516 1 15900517 [A/G] NM_024758 AGMAT Silent 1:15901300-CT 1 15901300 [T/C] NM_024758 AGMAT EXON Missense_V313M exm2250042 1 15904318 [T/C] NM_024758 AGMAT EXON Synonymous_S254S exm19696 1 15904318 [T/C] NM_024758 AGMAT EXON Synonymous_S254S exm19700 1 15905363 [T/G] NM_024758 AGMAT EXON Missense_N237K exm19702 1 15905388 [A/G] NM_024758 AGMAT EXON Missense_T229M exm19703 1 15905400 [T/C] NM_024758 AGMAT EXON Missense_R225Q exm19704 1 15905401 [A/G] NM_024758 AGMAT EXON Missense_R225W 1:15905471-GT 1 15905471 [T/G] NM_024758 AGMAT EXON Missense_H201Q newrs142035319 1 15906588 [T/C] NM_024758 AGMAT Silent indel.1028 1 15909687 [D/I] NM_024758 AGMAT exm19722 1 15909744 [T/C] NM_024758 AGMAT EXON Missense_R140Q 1:15909840-TC 1 15909840 [T/C] NM_024758 AGMAT EXON Missense_N108S exm19728 1 15909850 [G/C] NM_024758 AGMAT EXON Missense_G105R indel.1029 1 15909882 [D/I] NM_024758 AGMAT EXON rs6429759 1 15910003 [T/C] NM_024758 AGMAT Silent JHU_1.15913120 1 15913121 [A/G] JHU_1.15915618 1 15915619 [T/G] JHU_1.15920246 1 15920247 [T/C] rs79682587 1 15920323 [A/G] JHU_1.15922857 1 15922858 [T/C] 1:15930024-A-G 1 15930024 [A/G] rs16851855 1 15930869 [A/G] rs61782439 1 15946233 [T/C] NM_032341 DDI2 Silent rs78841288 1 15947290 [A/G] NM_032341 DDI2 Silent JHU_1.15949884 1 15949885 [T/C] NM_032341 DDI2 Silent rs6697813 1 15951743 [T/G] NM_032341 DDI2 Silent exm19752 1 15953261 [A/G] NM_032341 DDI2 EXON Missense_N79S exm19760 1 15956880 [A/G] NM_032341 DDI2 EXON Missense_R110H chr1_15956907 1 15956907 [A/G] NM_032341 DDI2 EXON Missense_H119R 1:15956982-CT 1 15956982 [T/C] NM_032341 DDI2 EXON Missense_A144V JHU_1.15959076 1 15959077 [T/C] NM_032341 DDI2 Silent rs41270275 1 15960300 [T/C] NM_032341 DDI2 Silent variant.1030 1 15964934 [T/C] NM_032341 DDI2 Silent rs1980607 1 15975237 [A/G] NM_032341 DDI2 Silent JHU_1.15975347 1 15975348 [A/C] NM_032341 DDI2 Silent 1:15978220-AG 1 15978220 [A/G] NM_032341 DDI2 EXON Missense_K338R exm19779 1 15978294 [T/C] NM_032341 DDI2 EXON Missense_R363W 1:15978295-GA 1 15978295 [A/G] NM_032341 DDI2 EXON Missense_R363Q exm1721914 1 15978331 [T/C] NM_032341 DDI2 EXON Missense_P375L rs189426300 1 15980857 [A/G] NM_032341 DDI2 Silent rs183739286 1 15983907 [T/C] NM_032341 DDI2 Silent exm19784 1 15986365 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_M1T exm19788 1 15986442 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_M27V exm19789 1 15986454 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_R31C 1:15986503-GA 1 15986503 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_R47H 1:15986547-TC 1 15986547 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_F62L exm19794 1 15986574 [G/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_H71D exm19797 1 15986623 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_A87V 1:15986763-TC 1 15986763 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_S134P exm19802 1 15986868 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_E169K JHU_1.15986867 1 15986868 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_E169K exm19803 1 15986917 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_H185R newrs138928687 1 15986922 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Nonsense_Q187X exm19805 1 15986940 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_I193V exm19806 1 15986977 [T/A] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_N205I 1:15986988-AG 1 15986988 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_I209V exm19810 1 15987052 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_A230V exm1722074 1 15987069 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_S236P indel.1032 1 15987157 [D/I] NM_032341,NM_006511 DDI2,RSC1A1 EXON exm19817 1 15987175 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_N271S exm19820 1 15987274 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_S304F chr1_15987366 1 15987366 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_C335R 1:15987387-GA 1 15987387 [A/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_V342M variant.1034 1 15987390 [T/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Nonsense_E343X 1:15987412-CT 1 15987412 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_P350L exm19825 1 15987421 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Missense_T353M exm19834 1 15987652 [C/G] NM_006511 RSC1A1 EXON Missense_T430R exm19836 1 15987655 [T/G] NM_006511 RSC1A1 EXON Missense_G431V exm19838 1 15987709 [T/A] NM_006511 RSC1A1 EXON Missense_L449Q exm19841 1 15987724 [T/C] NM_006511 RSC1A1 EXON Missense_S454L newrs137912259 1 15987735 [T/G] NM_006511 RSC1A1 EXON Nonsense_E458X indel.1038 1 15987798 [I/D] NM_006511 RSC1A1 EXON indel.1039 1 15987835 [I/D] NM_006511 RSC1A1 EXON exm19848 1 15987888 [A/G] NM_006511 RSC1A1 EXON Missense_E509K Variant26 1 15987901 [I/D] NM_006511 RSC1A1 EXON indel.1043 1 15988100 [I/D] NM_006511 RSC1A1 EXON 1:15988123-TC 1 15988123 [T/C] NM_006511 RSC1A1 EXON Missense_L587S 1:15988198-AG 1 15988198 [A/G] NM_006511 RSC1A1 EXON Missense_N612S JHU_1.15988358 1 15988359 [A/T] NM_006511 RSC1A1 EXON Silent rs58802392 1 15992687 [G/C] JHU_1.15992694 1 15992695 [A/G] rs10492987 1 15993338 [A/G] rs12746773 1 16001588 [T/C] 1:16011061-CA 1 16011061 [A/C] NM_015164 PLEKHM2 EXON Missense_P3Q rs144335945 1 16012460 [T/G] NM_015164 PLEKHM2 Silent JHU_1.16012965 1 16012966 [T/G] NM_015164 PLEKHM2 Silent JHU_1.16015756 1 16015757 [A/G] NM_015164 PLEKHM2 Silent rs7546138 1 16015784 [A/G] NM_015164 PLEKHM2 Silent rs117567714 1 16032018 [C/G] NM_015164 PLEKHM2 Silent JHU_1.16035009 1 16035010 [T/C] NM_015164 PLEKHM2 Silent exm19870 1 16042766 [T/C] NM_015164 PLEKHM2 EXON Missense_I32T 1:16043228-GT 1 16043228 [T/G] NM_015164 PLEKHM2 EXON Missense_W65L 1:16043275-GA 1 16043275 [A/G] NM_015164 PLEKHM2 EXON Missense_E81K rs16851970 1 16044401 [A/G] NM_015164 PLEKHM2 EXON Synonymous_L97L rs137990328 1 16044601 [T/C] NM_015164 PLEKHM2 Silent 1:16045043-GA 1 16045043 [A/G] NM_015164 PLEKHM2 EXON Missense_V130I 1:16045088-GT 1 16045088 [T/G] NM_015164 PLEKHM2 EXON Missense_G145W 1:16045104-GA 1 16045104 [A/G] NM_015164 PLEKHM2 EXON Missense_R150H 1:16046268-TC 1 16046268 [T/C] NM_015164 PLEKHM2 EXON Missense_Y169H rs142928865 1 16047787 [T/C] NM_015164 PLEKHM2 Silent 1:16047829-GA 1 16047829 [A/G] NM_015164 PLEKHM2 EXON Missense_D220N 1:16047869-GA 1 16047869 [A/G] NM_015164 PLEKHM2 EXON Missense_S233N JHU_1.16048138 1 16048139 [C/G] NM_015164 PLEKHM2 Silent JHU_1.16049284 1 16049285 [G/C] NM_015164 PLEKHM2 Silent JHU_1.16051259 1 16051260 [T/C] NM_015164 PLEKHM2 Silent JHU_1.16051348 1 16051349 [A/C] NM_015164 PLEKHM2 Silent JHU_1.16051583 1 16051584 [T/C] NM_015164 PLEKHM2 Silent JHU_1.16051766 1 16051767 [T/C] NM_015164 PLEKHM2 Silent 1:16051859-GA 1 16051859 [A/G] NM_015164 PLEKHM2 EXON Missense_D254N 1:16051974-CA 1 16051974 [A/C] NM_015164 PLEKHM2 EXON Missense_S292Y 1:16052019-GA 1 16052019 [A/G] NM_015164 PLEKHM2 EXON Missense_C307Y chr1_16052024 1 16052024 [A/G] NM_015164 PLEKHM2 EXON Missense_E309K rs77693259 1 16052342 [A/G] NM_015164 PLEKHM2 Silent rs41393951 1 16053493 [A/G] NM_015164 PLEKHM2 Silent 1:16053604-CT 1 16053604 [T/C] NM_015164 PLEKHM2 EXON Missense_A346V exm19917 1 16053627 [T/C] NM_015164 PLEKHM2 EXON Missense_R354C exm19919 1 16053633 [A/G] NM_015164 PLEKHM2 EXON Missense_G356S JHU_1.16053650 1 16053651 [C/G] NM_015164 PLEKHM2 EXON Missense_R362G exm19923 1 16053682 [T/C] NM_015164 PLEKHM2 EXON Missense_P372L exm19927 1 16053732 [T/G] NM_015164 PLEKHM2 EXON Missense_S389A exm1722835 1 16053822 [A/G] NM_015164 PLEKHM2 EXON Missense_G419R exm19933 1 16053853 [A/G] NM_015164 PLEKHM2 EXON Missense_R429H 1:16053880-GA 1 16053880 [A/G] NM_015164 PLEKHM2 EXON Missense_R438Q 1:16053886-GA 1 16053886 [A/G] NM_015164 PLEKHM2 EXON Missense_G440D 1:16053904-CT 1 16053904 [T/C] NM_015164 PLEKHM2 EXON Missense_P446L exm19935 1 16053916 [T/C] NM_015164 PLEKHM2 EXON Missense_P450L 1:16054005-GA 1 16054005 [A/G] NM_015164 PLEKHM2 EXON Missense_G480S 1:16054023-GA 1 16054023 [A/G] NM_015164 PLEKHM2 EXON Missense_G486R exm19944 1 16054062 [T/G] NM_015164 PLEKHM2 EXON Missense_A499S 1:16054086-GA 1 16054086 [A/G] NM_015164 PLEKHM2 EXON Missense_G507R 1:16054129-CT 1 16054129 [T/C] NM_015164 PLEKHM2 EXON Missense_T521M 1:16054231-GA 1 16054231 [A/G] NM_015164 PLEKHM2 EXON Missense_R555Q 1:16054305-AG 1 16054305 [A/G] NM_015164 PLEKHM2 EXON Missense_M580V variant.1044 1 16054617 [T/C] NM_015164 PLEKHM2 EXON Nonsense_R602X exm19960 1 16054813 [A/G] NM_015164 PLEKHM2 EXON Missense_V628M rs12724755 1 16055039 [T/C] NM_015164 PLEKHM2 Silent variant.1045 1 16055228 [A/G] NM_015164 PLEKHM2 EXON Synonymous_S662S rs7539884 1 16055931 [T/C] NM_015164 PLEKHM2 Silent 1:16056342-CT 1 16056342 [T/C] NM_015164 PLEKHM2 EXON Missense_P709L 1:16056392-GA 1 16056392 [A/G] NM_015164 PLEKHM2 EXON Missense_A726T JHU_1.16056948 1 16056949 [A/C] NM_015164 PLEKHM2 Silent 1:16057042-GA 1 16057042 [A/G] NM_015164 PLEKHM2 EXON Missense_V742M exm19976 1 16057046 [A/G] NM_015164 PLEKHM2 EXON Missense_R743H exm19979 1 16057147 [A/G] NM_015164 PLEKHM2 EXON Missense_M777V 1:16057716-GA 1 16057716 [A/G] NM_015164 PLEKHM2 EXON Missense_R810H exm19995 1 16058484 [A/G] NM_015164 PLEKHM2 EXON Missense_E856K 1:16058532-GT 1 16058532 [T/G] NM_015164 PLEKHM2 EXON Missense_V872L 1:16058858-GA 1 16058858 [A/G] NM_015164 PLEKHM2 EXON Missense_G880D 1:16058908-CT 1 16058908 [T/C] NM_015164 PLEKHM2 EXON Missense_R897C 1:16058966-CT 1 16058966 [T/C] NM_015164 PLEKHM2 EXON Missense_A916V exm2231605 1 16058989 [A/G] NM_015164 PLEKHM2 EXON Missense_V924I 1:16059138-CA 1 16059138 [A/C] NM_015164 PLEKHM2 EXON Missense_P946Q chr1_16059212 1 16059212 [A/G] NM_015164 PLEKHM2 EXON Missense_T971A exm20018 1 16060330 [A/C] NM_015164 PLEKHM2 EXON Missense_N987K exm20023 1 16060413 [A/G] NM_015164 PLEKHM2 EXON Missense_R1015Q rs10927843 1 16060892 [T/C] NM_015164 PLEKHM2 EXON Silent rs41270295 1 16060907 [T/A] NM_015164 PLEKHM2 EXON Silent rs12744547 1 16062378 [A/G] 1:16062988-CT 1 16062988 [T/C] NM_207348 SLC25A34 EXON Missense_T3M 1:16062997-CA 1 16062997 [A/C] NM_207348 SLC25A34 EXON Missense_P6Q 1:16063107-CT 1 16063107 [T/C] NM_207348 SLC25A34 EXON Missense_R43W exm20028 1 16063152 [A/G] NM_207348 SLC25A34 EXON Missense_A58T 1:16063165-GA 1 16063165 [A/G] NM_207348 SLC25A34 EXON Missense_R62Q 1:16063239-CT 1 16063239 [T/C] NM_207348 SLC25A34 EXON Missense_R87C exm1722968 1 16063314 [A/G] NM_207348 SLC25A34 EXON Missense_V112M exm20046 1 16064618 [T/C] NM_207348 SLC25A34 EXON Missense_R159W 1:16064619-GA 1 16064619 [A/G] NM_207348 SLC25A34 EXON Missense_R159Q 1:16064637-GA 1 16064637 [A/G] NM_207348 SLC25A34 EXON Missense_G165E 1:16065102-AG 1 16065102 [A/G] NM_207348 SLC25A34 EXON Missense_D204G exm20055 1 16065136 [C/G] NM_207348 SLC25A34 EXON Missense_I215M exm20056 1 16065158 [A/G] NM_207348 SLC25A34 EXON Missense_V223I exm20061 1 16065188 [T/C] NM_207348 SLC25A34 EXON Missense_R233W exm2231606 1 16065204 [T/C] NM_207348 SLC25A34 EXON Missense_P238L JHU_1.16065613 1 16065614 [T/C] NM_207348 SLC25A34 Silent exm2231608 1 16065743 [T/G] NM_207348 SLC25A34 EXON Missense_D253Y 1:16065749-AG 1 16065749 [A/G] NM_207348 SLC25A34 EXON Missense_M255V 1:16065783-CT 1 16065783 [T/C] NM_207348 SLC25A34 EXON Missense_A266V exm20072 1 16065806 [A/G] NM_207348 SLC25A34 EXON Missense_A274T exm1723035 1 16065816 [A/G] NM_207348 SLC25A34 EXON Missense_R277H 1:16065818-CA 1 16065818 [A/C] NM_207348 SLC25A34 EXON Missense_L278M exm20080 1 16065878 [T/C] NM_207348 SLC25A34 EXON Missense_R298W rs191174782 1 16067642 [A/G] NM_207348,NR_149050 SLC25A34,SLC25A34-AS1 EXON Silent,Silent rs7516080 1 16067904 [T/C] NR_149050 SLC25A34-AS1 Silent rs35365738 1 16068364 [A/G] NR_149050 SLC25A34-AS1 Silent JHU_1.16068417 1 16068418 [T/A] NR_149050 SLC25A34-AS1 Silent exm20090 1 16069071 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_S6F exm20093 1 16069104 [T/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_L17R exm20107 1 16069550 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_R66Q 1:16069550-GA 1 16069550 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_R66Q exm20111 1 16069612 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_V87M chr1_16069636 1 16069636 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_V95M JHU_1.16069663 1 16069664 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_V104A JHU_1.16069927 1 16069928 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 Silent,Silent JHU_1.16069949 1 16069950 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 Silent,Silent 1:16070695-TC 1 16070695 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_L126P 1:16070856-CA 1 16070856 [A/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_L180M exm20137 1 16070922 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Nonsense_Q202X chr1_16070934 1 16070934 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_R206C 1:16070935-GA 1 16070935 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_R206H 1:16070958-GA 1 16070958 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_V214M exm20142 1 16071010 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_S231L exm20143 1 16071015 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_A233T exm20144 1 16071022 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_R235Q exm20149 1 16071058 [T/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_L247R 1:16073370-CT 1 16073370 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_R256W 1:16073496-GA 1 16073496 [A/G] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_E298K exm20166 1 16073524 [A/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_T307N Variant28 1 16073527 [D/I] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON rs16851997 1 16074028 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 Silent,Silent 1:16074093-CT 1 16074093 [T/C] NR_149050,NM_001013641 SLC25A34-AS1,TMEM82 EXON Silent,Missense_S333L rs12725198 1 16080171 [A/G] JHU_1.16082786 1 16082787 [A/G] rs35609485 1 16082976 [T/C] rs867321 1 16087164 [T/C] NM_001350151,NM_017556,NM_001024216 FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent rs938295 1 16087260 [T/C] NM_001350151,NM_017556,NM_001024216 FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent rs12083988 1 16089356 [A/G] NM_001350151,NM_017556,NM_001024216 FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent exm20182 1 16091593 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_R39C,Missense_R39C,Missense_R39C,Missense_R39C exm20199 1 16093939 [A/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_P107T,Missense_P107T,Silent,Missense_P107T exm20200 1 16093946 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_P109L,Missense_P109L,Silent,Missense_P109L 1:16094044-CT 1 16094044 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_P142S,Missense_P142S,Silent,Missense_P142S JHU_1.16094074 1 16094075 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent,Silent exm20212 1 16095093 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_P170L,Missense_P170L,Silent,Missense_P170L exm20214 1 16095104 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_V174I,Missense_V174I,Silent,Missense_V174I exm20219 1 16096939 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Nonsense_R193X,Nonsense_R193X,Nonsense_R96X,Nonsense_R193X exm20220 1 16096951 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_V197M,Missense_V197M,Missense_V100M,Missense_V197M rs10803398 1 16097237 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent,Silent 1:16101143-GA 1 16101143 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_E248K,Missense_E248K,Missense_E151K,Missense_E248K exm20233 1 16101152 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_R251W,Missense_R251W,Missense_R154W,Missense_R251W 1:16101218-GA 1 16101218 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_A273T,Missense_A273T,Missense_A176T,Missense_A273T 1:16101222-GA 1 16101222 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_R274Q,Missense_R274Q,Missense_R177Q,Missense_R274Q rs138378591 1 16101228 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_I276T,Missense_I276T,Missense_I179T,Missense_I276T exm20241 1 16101228 [T/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Missense_I276T,Missense_I276T,Missense_I179T,Missense_I276T exm2273616 1 16101302 [G/C] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Silent,Silent,Silent,Missense_G301R exm20247 1 16101323 [T/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Silent,Silent,Silent,Missense_A308S exm20248 1 16101332 [A/G] NM_001350151,NM_017556,NM_001024216,NM_001024215 FBLIM1,FBLIM1,FBLIM1,FBLIM1 EXON Silent,Silent,Silent,Missense_G311R JHU_1.16108212 1 16108213 [T/G] NM_001350151,NM_017556,NM_001024216 FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent rs11810329 1 16108922 [A/G] NM_001350151,NM_017556,NM_001024216 FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent rs11576404 1 16110815 [A/G] NM_001350151,NM_017556,NM_001024216 FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent 1:16111133-CT 1 16111133 [T/C] NM_001350151,NM_017556,NM_001024216 FBLIM1,FBLIM1,FBLIM1 EXON Missense_R367W,Missense_R367W,Missense_R270W rs2902164 1 16115747 [T/C] JHU_1.16115746 1 16115747 [T/C] rs113241273 1 16120788 [T/C] rs12026094 1 16122018 [T/C] JHU_1.16122042 1 16122043 [T/C] JHU_1.16122941 1 16122942 [A/G] rs12569079 1 16124438 [A/G] JHU_1.16125636 1 16125637 [T/C] JHU_1.16126922 1 16126923 [T/C] rs77635962 1 16129340 [T/C] JHU_1.16129578 1 16129579 [T/C] 1:16133991-GA 1 16133991 [A/G] NM_001089591 UQCRHL EXON Missense_L52F exm20280 1 16134072 [T/C] NM_001089591 UQCRHL EXON Missense_E25K JHU_1.16136646 1 16136647 [A/G] rs111843207 1 16142202 [C/G] rs6677321 1 16149301 [A/C] JHU_1.16151284 1 16151285 [A/C] JHU_1.16160341 1 16160342 [A/G] rs4661660 1 16160342 [A/G] rs4661661 1 16161836 [T/C] NR_024279 FLJ37453 EXON Silent JHU_1.16164102 1 16164103 [A/G] NR_024279 FLJ37453 Silent rs113719584 1 16165203 [A/G] NR_024279 FLJ37453 Silent rs75907879 1 16170903 [T/C] NR_024279 FLJ37453 Silent JHU_1.16177008 1 16177009 [A/G] NM_015001 SPEN Silent rs138310924 1 16178070 [T/G] NM_015001 SPEN Silent rs184903221 1 16183545 [T/C] NM_015001 SPEN Silent rs6701290 1 16188681 [A/G] NM_015001 SPEN Silent rs118012386 1 16195847 [A/G] NM_015001 SPEN Silent exm20290 1 16199526 [A/G] NM_015001 SPEN EXON Missense_R100H exm20292 1 16199620 [A/G] NM_015001 SPEN EXON Synonymous_R131R exm2250090 1 16199620 [A/G] NM_015001 SPEN EXON Synonymous_R131R rs117023538 1 16199789 [A/G] NM_015001 SPEN Silent indel.1065 1 16200633 [D/I] NM_015001 SPEN 1:16200729-A-AT 1 16200729 [I/D] NM_015001 SPEN 1:16200775-CT 1 16200775 [T/C] NM_015001 SPEN Silent rs16852052 1 16201502 [T/G] NM_015001 SPEN Silent rs72649628 1 16201712 [T/C] NM_015001 SPEN Silent exm20299 1 16202843 [A/G] NM_015001 SPEN EXON Missense_Y184C exm20300 1 16202845 [A/G] NM_015001 SPEN EXON Missense_A185T rs75873000 1 16216103 [A/G] NM_015001 SPEN Silent JHU_1.16216617 1 16216618 [A/T] NM_015001 SPEN Silent rs148305353 1 16223223 [A/G] NM_015001 SPEN Silent JHU_1.16224661 1 16224662 [A/T] NM_015001 SPEN Silent rs61782232 1 16232634 [T/C] NM_015001 SPEN Silent rs79382192 1 16235403 [T/C] NM_015001 SPEN Silent exm20324 1 16235842 [A/G] NM_015001 SPEN EXON Missense_D303G JHU_1.16244334 1 16244335 [A/G] NM_015001 SPEN Silent exm2250099 1 16245979 [A/T] NM_015001 SPEN EXON Synonymous_T534T exm20341 1 16247386 [A/G] NM_015001 SPEN EXON Missense_G553S rs75739724 1 16253707 [A/G] NM_015001 SPEN Silent exm20350 1 16254702 [A/G] NM_015001 SPEN EXON Missense_E656G exm20352 1 16254852 [A/G] NM_015001 SPEN EXON Missense_R706H 1:16254873-GA 1 16254873 [A/G] NM_015001 SPEN EXON Missense_R713Q exm20354 1 16254932 [T/C] NM_015001 SPEN EXON Missense_R733C 1:16254978-CT 1 16254978 [T/C] NM_015001 SPEN EXON Missense_P748L exm20355 1 16255007 [T/C] NM_015001 SPEN EXON Nonsense_R758X exm20361 1 16255086 [A/G] NM_015001 SPEN EXON Missense_R784H exm20363 1 16255157 [T/G] NM_015001 SPEN EXON Missense_L808V 1:16255346-CT 1 16255346 [T/C] NM_015001 SPEN EXON Missense_R871C 1:16255404-TC 1 16255404 [T/C] NM_015001 SPEN EXON Missense_V890A exm20377 1 16255500 [T/C] NM_015001 SPEN EXON Missense_T922M exm1725843 1 16255562 [A/G] NM_015001 SPEN EXON Missense_K943E exm20381 1 16255644 [T/C] NM_015001 SPEN EXON Missense_A970V 1:16255675-GT 1 16255675 [T/G] NM_015001 SPEN EXON Missense_K980N exm20383 1 16255754 [A/C] NM_015001 SPEN EXON Missense_P1007T exm20387 1 16255799 [A/G] NM_015001 SPEN EXON Missense_V1022M 1:16256007-TC 1 16256007 [T/C] NM_015001 SPEN EXON Missense_L1091P 1:16256144-CT 1 16256144 [T/C] NM_015001 SPEN EXON Missense_R1137C exm20395 1 16256162 [T/C] NM_015001 SPEN EXON Missense_R1143C exm20399 1 16256300 [T/C] NM_015001 SPEN EXON Missense_S1189P exm20401 1 16256357 [A/G] NM_015001 SPEN EXON Missense_V1208I 1:16256430-AG 1 16256430 [A/G] NM_015001 SPEN EXON Missense_H1232R exm20404 1 16256519 [T/C] NM_015001 SPEN EXON Missense_P1262S exm20406 1 16256547 [A/C] NM_015001 SPEN EXON Missense_E1271A exm20408 1 16256621 [C/G] NM_015001 SPEN EXON Missense_P1296A 1:16256688-AC 1 16256688 [A/C] NM_015001 SPEN EXON Missense_E1318A exm20416 1 16256824 [T/G] NM_015001 SPEN EXON Missense_D1363E chr1_16256898 1 16256898 [A/G] NM_015001 SPEN EXON Missense_H1388R exm20427 1 16257285 [T/A] NM_015001 SPEN EXON Missense_E1517V exm2231684 1 16257398 [T/C] NM_015001 SPEN EXON Missense_F1555L 1:16257476-GT 1 16257476 [T/G] NM_015001 SPEN EXON Missense_V1581F exm20439 1 16257645 [T/C] NM_015001 SPEN EXON Missense_V1637A exm20442 1 16257671 [A/T] NM_015001 SPEN EXON Missense_T1646S 1:16257684-CT 1 16257684 [T/C] NM_015001 SPEN EXON Missense_A1650V chr1_16257720 1 16257720 [T/C] NM_015001 SPEN EXON Missense_T1662M exm20448 1 16257918 [T/C] NM_015001 SPEN EXON Missense_P1728L chr1_16257920 1 16257920 [T/C] NM_015001 SPEN EXON Missense_P1729S exm2250101 1 16257979 [T/C] NM_015001 SPEN EXON Synonymous_N1748N 1:16258044-AG 1 16258044 [A/G] NM_015001 SPEN EXON Missense_N1770S exm20458 1 16258070 [A/G] NM_015001 SPEN EXON Missense_A1779T exm20460 1 16258118 [T/C] NM_015001 SPEN EXON Missense_P1795S 1:16258302-AG 1 16258302 [A/G] NM_015001 SPEN EXON Missense_N1856S 1:16258482-AG 1 16258482 [A/G] NM_015001 SPEN EXON Missense_N1916S exm20480 1 16258493 [A/G] NM_015001 SPEN EXON Missense_V1920I 1:16258524-CA 1 16258524 [A/C] NM_015001 SPEN EXON Missense_T1930N exm20486 1 16258610 [G/C] NM_015001 SPEN EXON Missense_R1959G 1:16258614-CT 1 16258614 [T/C] NM_015001 SPEN EXON Missense_A1960V exm20495 1 16258756 [A/T] NM_015001 SPEN EXON Missense_D2007E exm20496 1 16258799 [A/G] NM_015001 SPEN EXON Missense_G2022S 1:16258901-G-GA 1 16258901 [I/D] NM_015001 SPEN EXON 1:16258935-CT 1 16258935 [T/C] NM_015001 SPEN EXON Missense_P2067L 1:16259030-GA 1 16259030 [A/G] NM_015001 SPEN EXON Missense_A2099T exm20508 1 16259127 [A/G] NM_015001 SPEN EXON Missense_D2131G exm20517 1 16259202 [C/G] NM_015001 SPEN EXON Missense_S2156C exm20518 1 16259205 [T/G] NM_015001 SPEN EXON Missense_G2157V exm20533 1 16259444 [C/G] NM_015001 SPEN EXON Missense_P2237A exm1725947 1 16259454 [T/C] NM_015001 SPEN EXON Missense_P2240L 1:16259547-GA 1 16259547 [A/G] NM_015001 SPEN EXON Missense_G2271D 1:16259610-CT 1 16259610 [T/C] NM_015001 SPEN EXON Missense_S2292L 1KG_1_16259647 1 16259647 [D/I] NM_015001 SPEN EXON exm20548 1 16259813 [A/G] NM_015001 SPEN EXON Missense_N2360D 1:16259870-GA 1 16259870 [A/G] NM_015001 SPEN EXON Missense_E2379K 1:16259915-CT 1 16259915 [T/C] NM_015001 SPEN EXON Missense_P2394S exm20561 1 16260012 [T/C] NM_015001 SPEN EXON Missense_S2426F 1:16260051-CT 1 16260051 [T/C] NM_015001 SPEN EXON Missense_P2439L 1:16260131-AG 1 16260131 [A/G] NM_015001 SPEN EXON Missense_S2466G exm20567 1 16260140 [A/G] NM_015001 SPEN EXON Missense_I2469V exm20576 1 16260392 [A/G] NM_015001 SPEN EXON Missense_S2553G exm20580 1 16260513 [A/G] NM_015001 SPEN EXON Missense_N2593S exm20583 1 16260579 [T/C] NM_015001 SPEN EXON Missense_A2615V exm20585 1 16260606 [A/G] NM_015001 SPEN EXON Missense_R2624Q exm20586 1 16260692 [A/G] NM_015001 SPEN EXON Missense_A2653T 1:16260728-GA 1 16260728 [A/G] NM_015001 SPEN EXON Missense_V2665M exm20589 1 16260803 [A/G] NM_015001 SPEN EXON Missense_V2690M exm20591 1 16260845 [A/G] NM_015001 SPEN EXON Missense_V2704M 1:16260894-CT 1 16260894 [T/C] NM_015001 SPEN EXON Missense_A2720V 1:16260947-GT 1 16260947 [T/G] NM_015001 SPEN EXON Missense_A2738S exm20598 1 16260963 [T/C] NM_015001 SPEN EXON Missense_A2743V exm20600 1 16260996 [T/C] NM_015001 SPEN EXON Missense_T2754M exm20602 1 16261019 [A/C] NM_015001 SPEN EXON Missense_M2762L 1:16261134-CT 1 16261134 [T/C] NM_015001 SPEN EXON Missense_A2800V exm20613 1 16261256 [A/G] NM_015001 SPEN EXON Missense_S2841G exm20623 1 16261604 [A/G] NM_015001 SPEN EXON Missense_N2957D exm20628 1 16261683 [T/C] NM_015001 SPEN EXON Missense_T2983M exm20630 1 16261685 [T/C] NM_015001 SPEN EXON Missense_P2984S 1:16261751-AG 1 16261751 [A/G] NM_015001 SPEN EXON Missense_S3006G exm20642 1 16262012 [G/C] NM_015001 SPEN EXON Missense_L3093V 1:16262064-AC 1 16262064 [A/C] NM_015001 SPEN EXON Missense_Y3110S 1:16262125-GT 1 16262125 [T/G] NM_015001 SPEN EXON Missense_E3130D exm20651 1 16262141 [T/C] NM_015001 SPEN EXON Missense_R3136C chr1_16262235 1 16262235 [A/C] NM_015001 SPEN EXON Missense_A3167D exm20656 1 16262306 [A/G] NM_015001 SPEN EXON Missense_V3191M 1:16262372-GA 1 16262372 [A/G] NM_015001 SPEN EXON Missense_A3213T 1:16262399-GA 1 16262399 [A/G] NM_015001 SPEN EXON Missense_A3222T 1:16262460-GCCCCCA-G 1 16262460 [D/I] NM_015001 SPEN EXON 1:16262510-CCCTGCT-C 1 16262510 [I/D] NM_015001 SPEN EXON 1:16262661-GA 1 16262661 [A/G] NM_015001 SPEN EXON Missense_G3309D exm20684 1 16262715 [T/C] NM_015001 SPEN EXON Missense_A3327V 1:16263472-G-A 1 16263472 [A/G] NM_015001 SPEN Silent 1:16263763-GA 1 16263763 [A/G] NM_015001 SPEN EXON Missense_G3378S 1:16263812-GA 1 16263812 [A/G] NM_015001 SPEN EXON Missense_G3394E 1:16263838-CT 1 16263838 [T/C] NM_015001 SPEN EXON Missense_R3403C chr1_16264006 1 16264006 [A/G] NM_015001 SPEN EXON Missense_V3459I exm20720 1 16264022 [C/G] NM_015001 SPEN EXON Missense_G3464A exm20722 1 16264027 [A/G] NM_015001 SPEN EXON Missense_S3466G chr1_16264046 1 16264046 [T/C] NM_015001 SPEN EXON Missense_V3472A exm20730 1 16264391 [A/G] NM_015001 SPEN EXON Missense_V3532I exm20731 1 16264403 [T/C] NM_015001 SPEN EXON Missense_R3536W 1:16268477-GA 1 16268477 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_P718L,Missense_P724L,Missense_P724L,Missense_P737L,Missense_P807L,Missense_P800L 1:16268624-GA 1 16268624 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_A669V,Missense_A675V,Missense_A675V,Missense_A688V,Missense_A758V,Missense_A751V exm2250105 1 16269040 [C/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Synonymous_A592A,Synonymous_A598A,Synonymous_A598A,Synonymous_A611A,Synonymous_A674A,Synonymous_A674A JHU_1.16269434 1 16269435 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent 1:16270509-CT 1 16270509 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent 1:16270638-GA 1 16270638 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent 1:16270757-CT 1 16270757 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent 1:16270782-GA 1 16270782 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent exm20791 1 16270841 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_T360M,Missense_T366M,Missense_T366M,Missense_T379M,Missense_T442M,Missense_T442M 1:16270850-GA 1 16270850 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_T357I,Missense_T363I,Missense_T363I,Missense_T376I,Missense_T439I,Missense_T439I 1:16270896-CT 1 16270896 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_G342S,Missense_G348S,Missense_G348S,Missense_G361S,Missense_G424S,Missense_G424S 1:16271001-GA 1 16271001 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_R307C,Missense_R313C,Missense_R313C,Missense_R326C,Missense_R389C,Missense_R389C 1:16271042-CA 1 16271042 [A/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_S293I,Missense_S299I,Missense_S299I,Missense_S312I,Missense_S375I,Missense_S375I 1:16271045-AC 1 16271045 [A/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_I292S,Missense_I298S,Missense_I298S,Missense_I311S,Missense_I374S,Missense_I374S 1:16271046-TC 1 16271046 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_I292V,Missense_I298V,Missense_I298V,Missense_I311V,Missense_I374V,Missense_I374V 1:16271118-GA 1 16271118 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent 1:16271156-CA 1 16271156 [A/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent 1:16271180-TC 1 16271180 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent 1:16271472-GA 1 16271472 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_T214M,Missense_T220M,Missense_T220M,Missense_T233M,Missense_T296M,Missense_T296M 1:16271497-GA 1 16271497 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_R206C,Missense_R212C,Missense_R212C,Missense_R225C,Missense_R288C,Missense_R288C chr1_16271505 1 16271505 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_R203Q,Missense_R209Q,Missense_R209Q,Missense_R222Q,Missense_R285Q,Missense_R285Q 1:16271654-CA 1 16271654 [A/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_K153N,Missense_K159N,Missense_K159N,Missense_K172N,Missense_K235N,Missense_K235N exm20812 1 16271656 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_K153E,Missense_K159E,Missense_K159E,Missense_K172E,Missense_K235E,Missense_K235E 1:16272555-CT 1 16272555 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent 1:16272622-CT 1 16272622 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent 1:16272676-CT 1 16272676 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_G88S,Missense_G94S,Missense_G94S,Missense_G107S,Missense_G170S,Missense_G170S exm20832 1 16272678 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_R87H,Missense_R93H,Missense_R93H,Missense_R106H,Missense_R169H,Missense_R169H exm1726152 1 16272694 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_D82N,Missense_D88N,Missense_D88N,Missense_D101N,Missense_D164N,Missense_D164N 1:16272782-GT 1 16272782 [T/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_D52E,Missense_D58E,Missense_D58E,Missense_D71E,Missense_D134E,Missense_D134E exm20841 1 16273507 [A/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Missense_R17W,Missense_T30M,Missense_T30M,Silent,Missense_T106M,Missense_T106M exm20843 1 16273559 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Silent,Missense_V13M,Missense_V13M,Silent,Missense_V89M,Missense_V89M 1:16273649-A-C 1 16273649 [A/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent 1:16274972-TC 1 16274972 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 EXON Silent,Silent,Silent,Missense_S7G,Missense_S7G,Missense_S7G rs149963697 1 16276430 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent rs79643981 1 16276858 [T/G] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent rs848189 1 16277647 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent exm-rs10927875 1 16299312 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent rs10927875 1 16299312 [T/C] NM_001242884,NM_001287604,NM_001324137,NM_001324138,NM_001287603,NM_003443 ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17,ZBTB17 Silent,Silent,Silent,Silent,Silent,Silent 1:16317542-T-C 1 16317542 [T/C] rs4661681 1 16321523 [T/C] rs1739828 1 16327422 [T/C] 1:16330805-CA 1 16330805 [A/C] NM_178840 SRARP EXON Missense_P3T chr1_16330828 1 16330828 [A/G] NM_178840 SRARP EXON Nonsense_W10X exm20862 1 16330879 [T/C] NM_178840 SRARP EXON Synonymous_S27S 1:16330880-GA 1 16330880 [A/G] NM_178840 SRARP EXON Missense_G28S exm20872 1 16332563 [A/G] NM_178840 SRARP EXON Missense_M78V 1:16332583-CA 1 16332583 [A/C] NM_178840 SRARP EXON Missense_F84L exm20882 1 16332740 [A/G] NM_178840 SRARP EXON Missense_G137R exm1726558 1 16332749 [A/G] NM_178840 SRARP EXON Missense_V140M chr1_16332771 1 16332771 [T/C] NM_178840 SRARP EXON Missense_S147F 1:16332782-GT 1 16332782 [T/G] NM_178840 SRARP EXON Nonsense_G151X exm2231699 1 16332783 [T/G] NM_178840 SRARP EXON Missense_G151V rs11578845 1 16336654 [A/G] rs1048245 1 16341354 [T/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm20891 1 16342103 [T/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_Q157P,Missense_Q166P,Missense_Q237P,Missense_Q167P,Missense_Q156P,Missense_Q161P,Missense_Q162P,Missense_Q148P exm20893 1 16342124 [A/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_P150L,Missense_P159L,Missense_P230L,Missense_P160L,Missense_P149L,Missense_P154L,Missense_P155L,Missense_P141L exm2231700 1 16342146 [T/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_T143A,Missense_T152A,Missense_T223A,Missense_T153A,Missense_T142A,Missense_T147A,Missense_T148A,Missense_T134A exm20901 1 16342220 [A/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_A118V,Missense_A127V,Missense_A198V,Missense_A128V,Missense_A117V,Missense_A122V,Missense_A123V,Silent 1:16342226-GT 1 16342226 [T/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_T116N,Missense_T125N,Missense_T196N,Missense_T126N,Missense_T115N,Missense_T120N,Missense_T121N,Silent rs1739843 1 16343254 [T/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm20908 1 16343694 [T/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_G70S,Missense_G74S,Missense_G145S,Missense_G75S,Silent,Missense_G74S,Missense_G70S,Missense_G70S exm20909 1 16343699 [G/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_R68P,Missense_R72P,Missense_R143P,Missense_R73P,Silent,Missense_R72P,Missense_R68P,Missense_R68P exm20913 1 16344308 [T/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Missense_D51N,Missense_D51N,Missense_D126N,Missense_D51N,Missense_D51N,Missense_D51N,Missense_D51N,Missense_D51N 1:16344466-CT 1 16344466 [T/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:16344539-GT 1 16344539 [T/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:16344572-GA 1 16344572 [A/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2264805 1 16344664 [A/G] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:16344716-CT 1 16344716 [T/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.16344986 1 16344987 [T/C] NM_001349687,NM_001349683,NM_001349682,NM_001349689,NM_001349685,NM_001349688,NM_014424,NM_001349686 HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7,HSPB7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:16345714-CA 1 16345714 [A/C] NM_001349682 HSPB7 EXON Missense_G84V 1:16345735-CT 1 16345735 [T/C] NM_001349682 HSPB7 EXON Missense_R77Q 1:16345955-GT 1 16345955 [T/G] NM_001349682 HSPB7 EXON Missense_Q4K JHU_1.16346247 1 16346248 [C/G] rs3754322 1 16346507 [A/C] rs945425 1 16348412 [T/C] exm20944 1 16349137 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_R8H,Missense_R8H,Missense_R8H 1:16349143-GT 1 16349143 [T/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_G10V,Missense_G10V,Missense_G10V 1:16349152-GT 1 16349152 [T/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_G13V,Missense_G13V,Missense_G13V Variant37712 1 16349169 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Nonsense_Q19X,Nonsense_Q19X,Nonsense_Q19X rs202069201 1 16349169 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Nonsense_Q19X,Nonsense_Q19X,Nonsense_Q19X rs373577135 1 16349188 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_C25Y,Missense_C25Y,Missense_C25Y 1:16349206-CA 1 16349206 [A/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_A31D,Missense_A31D,Missense_A31D exm20955 1 16350315 [A/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_Q41K,Missense_Q41K,Missense_Q41K exm20956 1 16350328 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_R45H,Missense_R45H,Missense_R45H 1:16350415-TC 1 16350415 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_V74A,Missense_V74A,Missense_V74A 1:16350420-CT 1 16350420 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Nonsense_R76X,Nonsense_R76X,Nonsense_R76X rs9442215 1 16351206 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA Silent,Silent,Silent 1:16351266-TG 1 16351266 [T/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_W80G,Missense_W80G,Silent rs142945201 1 16351266 [T/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_W80G,Missense_W80G,Silent 1:16351268-G-C 1 16351268 [G/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_W80C,Missense_W80C,Silent JHU_1.16351485 1 16351486 [G/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA Silent,Silent,Silent rs116036032 1 16352547 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA Silent,Silent,Silent 1:16352753-GC 1 16352753 [G/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA Silent,Silent,Silent seq-rs387907407 1 16353903 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_L252F,Missense_L252F,Missense_L209F exm2250114 1 16353926 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Synonymous_E259E,Synonymous_E259E,Synonymous_E216E 1:16353927-C-T 1 16353927 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Nonsense_Q260X,Nonsense_Q260X,Nonsense_Q217X 1:16353931-GC 1 16353931 [G/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA Silent,Silent,Silent exm20993 1 16354581 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_T312I,Missense_T312I,Missense_T269I 1:16355100-AG 1 16355100 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA Silent,Silent,Silent 1:16355160-GT 1 16355160 [T/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA Silent,Silent,Silent 1:16355280-CT 1 16355280 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Synonymous_A331A,Synonymous_A331A,Synonymous_A288A exm2250115 1 16355310 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Synonymous_P341P,Synonymous_P341P,Synonymous_P298P seq-rs387907405 1 16355714 [T/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_D383Y,Missense_D383Y,Missense_D340Y 1:16356289-AG 1 16356289 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_I431V,Missense_I431V,Missense_I388V exm21029 1 16356501 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_A447T,Missense_A447T,Missense_A404T exm21030 1 16356522 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_T454A,Missense_T454A,Missense_T411A 1:16356971-CT 1 16356971 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_S475L,Missense_S475L,Missense_S432L rs200620748 1 16357097 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_P517L,Missense_P517L,Missense_P474L 1:16357097-CT 1 16357097 [T/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_P517L,Missense_P517L,Missense_P474L 1:16358248-AG 1 16358248 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_T556A,Missense_T556A,Missense_T513A 1:16358289-AG-A 1 16358289 [D/I] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON 1:16358728-GA 1 16358728 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_R596K,Missense_R596K,Missense_R553K exm21081 1 16359717 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Missense_R661Q,Missense_R660Q,Missense_R618Q rs72474561 1 16359959 [A/G] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA Silent,Silent,Silent rs112960271 1 16360478 [A/C] NM_004070,NM_001042704,NM_001257139 CLCNKA,CLCNKA,CLCNKA EXON Silent,Silent,Silent JHU_1.16364375 1 16364376 [T/C] JHU_1.16366056 1 16366057 [A/G] JHU_1.16367267 1 16367268 [T/G] rs2007471 1 16368977 [T/C] JHU_1.16370850 1 16370851 [T/C] NM_000085 CLCNKB Silent JHU_1.16370873 1 16370874 [A/G] NM_000085 CLCNKB Silent 1:16371037-CA 1 16371037 [A/C] NM_000085 CLCNKB EXON Missense_T17N rs200835418 1 16371075 [T/C] NM_000085 CLCNKB EXON Nonsense_R30X Variant48008 1 16371075 [T/C] NM_000085 CLCNKB EXON Nonsense_R30X 1:16371085-GA 1 16371085 [A/G] NM_000085 CLCNKB EXON Missense_R33Q rs6604908 1 16371872 [C/G] NM_000085 CLCNKB Silent rs6604909 1 16371932 [A/C] NM_000085 CLCNKB Silent exm21108 1 16372124 [T/G] NM_000085 CLCNKB EXON Missense_V58L Variant48009 1 16372134 [A/C] NM_000085 CLCNKB EXON Missense_A61D Variant48010 1 16372178 [T/C] NM_000085 CLCNKB EXON Nonsense_R76X exm21109 1 16372179 [A/G] NM_000085 CLCNKB EXON Missense_R76Q JHU_1.16372275 1 16372276 [C/G] NM_000085 CLCNKB Silent Variant48011 1 16373074 [T/C] NM_000085 CLCNKB EXON Missense_R92W exm1726897 1 16373080 [A/C] NM_000085 CLCNKB EXON Missense_L94I 1:16373110-GA 1 16373110 [A/G] NM_000085 CLCNKB EXON Missense_V104I rs5257 1 16373124 [A/G] NM_000085 CLCNKB EXON Synonymous_S108S 1:16374412-C-T 1 16374412 [T/C] NM_000085 CLCNKB EXON Missense_P124L 1:16374433-CT 1 16374433 [T/C] NM_000085 CLCNKB EXON Missense_A131V rs139936386 1 16374463 [T/C] NM_000085 CLCNKB EXON Missense_I141T Variant48013 1 16374847 [A/G] NM_000085 CLCNKB EXON Missense_V170M 1:16375032-G-A 1 16375032 [A/G] NM_000085 CLCNKB EXON Missense_A204T exm21136 1 16375510 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Silent,Missense_G15E exm21152 1 16376312 [T/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_G290V,Missense_G121V exm21155 1 16376332 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_S297G,Missense_S128G Variant48016 1 16376351 [A/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_Q303P,Missense_Q134P variant.1094 1 16376353 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Nonsense_R304X,Nonsense_R135X var_1_16376412 1 16376412 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent JHU_1.16376493 1 16376494 [C/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent rs145464420 1 16376519 [C/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent rs35480349 1 16377108 [C/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent 1:16377508-AG 1 16377508 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_I398V,Missense_I229V 1:16378000-AG 1 16378000 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_I419V,Missense_I250V 1:16378039-T-C 1 16378039 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_Y432H,Missense_Y263H Variant48022 1 16378205 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_G433E,Missense_G264E rs5252 1 16378215 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Synonymous_I436I,Synonymous_I267I Variant48023 1 16378216 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_G437R,Missense_G268R 1:16378219-C-T 1 16378219 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_R438C,Missense_R269C rs121909133 1 16378219 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_R438C,Missense_R269C exm21193 1 16378220 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_R438H,Missense_R269H exm21194 1 16378223 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_L439P,Missense_L270P Variant48028 1 16378247 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_I447T,Missense_I278T 1:16378738-CT 1 16378738 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_A485V,Missense_A316V rs187999813 1 16378873 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_P530L,Missense_P361L rs111697013 1 16379135 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent 1:16380180-AC 1 16380180 [A/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_T557P,Missense_T388P exm21233 1 16380196 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_M562T,Missense_M393T rs77186099 1 16380776 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent Variant48029 1 16381956 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Nonsense_R595X,Nonsense_R426X exm21243 1 16382003 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Nonsense_W610X,Nonsense_W441X rs121909136 1 16382003 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Nonsense_W610X,Nonsense_W441X rs143663847 1 16382201 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_C626Y,Missense_C456Y exm21247 1 16382201 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_C626Y,Missense_C456Y seq-rs863224858 1 16382219 [D/I] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON rs11576962 1 16382611 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent exm21253 1 16382916 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent rs370019965 1 16382931 [T/G] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_F648L,Missense_F478L exm21257 1 16382951 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_S655F,Missense_S485F exm21260 1 16382966 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_S660L,Missense_S490L rs375288190 1 16382989 [G/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_V668L,Missense_V498L JHU_1.16383514 1 16383515 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Silent,Silent JHU_1.16385697 1 16385698 [A/G] NM_182623 FAM131C Silent exm21309 1 16386391 [T/C] NM_182623 FAM131C EXON Missense_E142K Variant37716 1 16386395 [T/C] NM_182623 FAM131C EXON Synonymous_P140P JHU_1.16386733 1 16386734 [T/C] NM_182623 FAM131C Silent exm21319 1 16388605 [A/G] NM_182623 FAM131C EXON Missense_S86L JHU_1.16389188 1 16389189 [A/G] NM_182623 FAM131C Silent rs41269179 1 16390007 [C/G] NM_182623 FAM131C Silent 1:16390023-AG 1 16390023 [A/G] NM_182623 FAM131C EXON Missense_I44T chr1_16390038 1 16390038 [T/G] NM_182623 FAM131C EXON Missense_A39D 1:16390039-CA 1 16390039 [A/C] NM_182623 FAM131C EXON Missense_A39S exm21338 1 16390081 [A/G] NM_182623 FAM131C EXON Missense_P25S rs59168412 1 16390319 [T/C] NM_182623 FAM131C Silent rs9442235 1 16393357 [T/G] NM_182623 FAM131C Silent exm-rs9442235 1 16393357 [T/G] NM_182623 FAM131C Silent rs143173116 1 16394582 [T/C] NM_182623 FAM131C Silent rs11801060 1 16394859 [A/G] NM_182623 FAM131C Silent rs10927902 1 16395147 [A/G] NM_182623 FAM131C Silent rs72887136 1 16397870 [T/C] NM_182623 FAM131C Silent JHU_1.16405950 1 16405951 [T/C] rs28695308 1 16406162 [T/C] rs28505459 1 16407824 [T/C] JHU_1.16411149 1 16411150 [A/G] 1:16412208-A-G 1 16412208 [A/G] JHU_1.16413148 1 16413149 [T/C] rs4661351 1 16414088 [A/G] rs56673124 1 16414497 [T/C] rs143972257 1 16414773 [T/G] rs28550594 1 16415589 [A/G] rs28441102 1 16417623 [A/G] rs28678205 1 16418285 [T/C] rs28757713 1 16422010 [A/G] rs28616748 1 16424085 [A/C] JHU_1.16424120 1 16424121 [A/G] JHU_1.16426138 1 16426139 [T/G] rs76372863 1 16428270 [C/G] rs77320751 1 16428399 [T/C] JHU_1.16436177 1 16436178 [A/C] JHU_1.16439165 1 16439166 [A/G] rs61769947 1 16441363 [T/C] JHU_1.16441509 1 16441510 [C/G] JHU_1.16442485 1 16442486 [T/C] JHU_1.16442846 1 16442847 [A/G] rs4661703 1 16443231 [A/G] rs78920758 1 16444159 [A/G] JHU_1.16448339 1 16448340 [T/G] rs6684802 1 16449680 [T/C] rs139754494 1 16451051 [A/T] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Silent,Silent rs200109380 1 16451718 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_P975S,Missense_P921S exm2250132 1 16451722 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Synonymous_G973G,Synonymous_G919G exm21342 1 16451722 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Synonymous_G973G,Synonymous_G919G exm21343 1 16451737 [G/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_Q968H,Missense_Q914H rs139787163 1 16451766 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_A959T,Missense_A905T exm21345 1 16451766 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_A959T,Missense_A905T exm2250133 1 16451767 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Synonymous_I958I,Synonymous_I904I exm21348 1 16451815 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Synonymous_D942D,Synonymous_D888D rs3820610 1 16452998 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent 1:16455971-GA 1 16455971 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_A928V,Missense_A874V 1:16455989-GA 1 16455989 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_T922M,Missense_T868M 1:16456061-GA 1 16456061 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_T898M,Missense_T844M exm21356 1 16456083 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V891M,Missense_V837M rs139168333 1 16456083 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V891M,Missense_V837M rs3768294 1 16456176 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent exm21357 1 16456721 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R890H,Missense_R836H Variant48034 1 16456722 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R890C,Missense_R836C exm21359 1 16456763 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R876H,Missense_R822H rs139225059 1 16456811 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R860H,Missense_R806H exm21360 1 16456811 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R860H,Missense_R806H JHU_1.16458088 1 16458089 [A/T] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent chr1_16458236 1 16458236 [A/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_W819G,Missense_W765G 1:16458293-CT 1 16458293 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V800M,Missense_V746M exm2250135 1 16458317 [T/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Synonymous_R792R,Synonymous_R738R rs201340421 1 16458597 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V763M,Missense_V709M 1:16458599-CT 1 16458599 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R762H,Missense_R708H rs145592908 1 16458645 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V747I,Missense_V693I exm21375 1 16458645 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V747I,Missense_V693I rs200893130 1 16458671 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R738H,Missense_R684H exm21377 1 16458722 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R721Q,Missense_R667Q seq-rs786205441 1 16459721 [A/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_Q669H,Missense_Q615H exm21393 1 16459744 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_G662S,Missense_G608S chr1_16459806 1 16459806 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V641A,Missense_V587A 1:16459836-AG 1 16459836 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_M631T,Missense_M577T chr1_16460075 1 16460075 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V589M,Missense_V535M 1:16460390-CT 1 16460390 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R568H,Missense_R514H JHU_1.16460695 1 16460696 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent exm21413 1 16460963 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R561K,Missense_R507K 1:16460970-GA 1 16460970 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_H559Y,Missense_H505Y exm21417 1 16461024 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V541M,Missense_V487M exm2231711 1 16461546 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_E523K,Missense_E469K rs55747232 1 16461581 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_T511M,Missense_T457M exm2231712 1 16461581 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_T511M,Missense_T457M exm21424 1 16461627 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_D496N,Missense_D442N rs140392218 1 16461647 [A/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_G489V,Missense_G435V rs199586891 1 16461654 [T/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_T487P,Missense_T433P 1:16462134-CT 1 16462134 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent 1:16462179-AG 1 16462179 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_W467R,Missense_W413R 1:16462205-AG 1 16462205 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_I458T,Missense_I404T exm21445 1 16464377 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R428H,Missense_R374H 1:16464479-CT 1 16464479 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R394H,Missense_R340H rs34192549 1 16464489 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_G391R,Missense_G337R exm21451 1 16464489 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_G391R,Missense_G337R exm21457 1 16464527 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_P378L,Missense_P324L exm21462 1 16464612 [T/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_P350T,Missense_P296T exm2273617 1 16464614 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_T349M,Missense_T295M rs139176878 1 16464805 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R315Q,Missense_R261Q exm21467 1 16464805 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R315Q,Missense_R261Q variant.1119 1 16464914 [A/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Nonsense_G279X,Nonsense_G225X exm21472 1 16464919 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_S277L,Missense_S223L rs11260743 1 16465403 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent rs11260745 1 16466003 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent rs74754043 1 16470686 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent rs12406250 1 16471000 [T/G] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent 1:16472959-G-C 1 16472959 [G/C] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent rs78299991 1 16474041 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent rs2863841 1 16474110 [G/C] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent rs6603867 1 16474701 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent exm21483 1 16475001 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_D232G,Missense_D178G exm21485 1 16475047 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_G217S,Missense_G163S 1:16475112-CT 1 16475112 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R195H,Missense_R141H exm21492 1 16475173 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R175C,Missense_R121C rs150790360 1 16475203 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V165M,Missense_V111M exm21496 1 16475203 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_V165M,Missense_V111M 1:16475286-CT 1 16475286 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R137H,Missense_R83H exm21506 1 16475419 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_R93C,Missense_R39C newrs143590250 1 16475434 [A/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Nonsense_R88X,Nonsense_R34X exm21514 1 16477423 [C/G] NM_004431,NM_001329090 EPHA2,EPHA2 EXON Missense_L41V,Silent rs74899738 1 16479930 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent JHU_1.16481365 1 16481366 [T/C] NM_004431,NM_001329090 EPHA2,EPHA2 Silent,Silent rs16852532 1 16484982 [T/G] rs904106 1 16486793 [A/G] rs6603884 1 16492862 [A/G] JHU_1.16493224 1 16493225 [A/G] JHU_1.16494252 1 16494253 [A/G] rs924206 1 16495998 [A/G] rs184114018 1 16496594 [T/G] JHU_1.16497951 1 16497952 [A/G] JHU_1.16499466 1 16499467 [A/G] rs58699107 1 16499538 [T/C] rs1497406 1 16505320 [A/G] rs4661718 1 16505908 [T/C] rs58823238 1 16511032 [T/C] rs72889767 1 16511198 [A/G] rs4661359 1 16513153 [T/C] rs11260930 1 16514343 [A/G] rs6656611 1 16515805 [T/C] rs12024558 1 16518748 [A/T] rs72636554 1 16518824 [T/C] rs117396819 1 16521278 [A/G] rs143382867 1 16523344 [A/G] rs149825220 1 16524590 [A/T] NM_153213 ARHGEF19 EXON Silent rs221031 1 16524869 [T/C] NM_153213 ARHGEF19 EXON Silent 1:16525116-CT 1 16525116 [T/C] NM_153213 ARHGEF19 EXON Missense_S792N exm21527 1 16525657 [A/G] NM_153213 ARHGEF19 EXON Missense_W747R JHU_1.16525886 1 16525887 [C/G] NM_153213 ARHGEF19 Silent JHU_1.16526193 1 16526194 [G/C] NM_153213 ARHGEF19 Silent rs221035 1 16526529 [A/G] NM_153213 ARHGEF19 Silent 1:16526624-G-C 1 16526624 [G/C] NM_153213 ARHGEF19 Silent 1:16528284-CA 1 16528284 [A/C] NM_153213 ARHGEF19 EXON Missense_E713D indel.1127 1 16528342 [D/I] NM_153213 ARHGEF19 EXON 1:16530850-T-G 1 16530850 [T/G] NM_153213 ARHGEF19 Silent exm21541 1 16531263 [T/C] NM_153213 ARHGEF19 EXON Missense_R633Q exm21543 1 16531299 [T/C] NM_153213 ARHGEF19 EXON Missense_Y621C 1:16531390-GA 1 16531390 [A/G] NM_153213 ARHGEF19 EXON Missense_R591C 1:16531407-GA 1 16531407 [A/G] NM_153213 ARHGEF19 EXON Missense_P585L 1:16531908-GA 1 16531908 [A/G] NM_153213 ARHGEF19 EXON Missense_R532W 1:16532128-GA 1 16532128 [A/G] NM_153213 ARHGEF19 EXON Missense_R496C exm21560 1 16532434 [A/C] NM_153213 ARHGEF19 EXON Missense_Q481H 1:16532489-CT 1 16532489 [T/C] NM_153213 ARHGEF19 EXON Missense_R463H exm21565 1 16532498 [A/G] NM_153213 ARHGEF19 EXON Missense_P460L 1:16532526-CT 1 16532526 [T/C] NM_153213 ARHGEF19 EXON Missense_V451M exm21571 1 16532549 [T/A] NM_153213 ARHGEF19 EXON Missense_E443V 1:16532728-CA 1 16532728 [A/C] NM_153213 ARHGEF19 EXON Missense_Q415H 1:16532853-CA 1 16532853 [A/C] NM_153213 ARHGEF19 Silent JHU_1.16533104 1 16533105 [G/C] NM_153213 ARHGEF19 Silent 1:16533697-AG 1 16533697 [A/G] NM_153213 ARHGEF19 EXON Missense_Y295H exm21591 1 16534047 [T/C] NM_153213 ARHGEF19 EXON Missense_E282K exm21594 1 16534074 [T/G] NM_153213 ARHGEF19 EXON Missense_P273T exm21596 1 16534255 [C/G] NM_153213 ARHGEF19 EXON Missense_E238Q 1:16534481-GA 1 16534481 [A/G] NM_153213 ARHGEF19 EXON Missense_R218W exm21605 1 16534646 [G/C] NM_153213 ARHGEF19 EXON Missense_G163R exm21612 1 16535162 [A/G] NM_153213 ARHGEF19 EXON Missense_H130Y exm21614 1 16535174 [A/G] NM_153213 ARHGEF19 EXON Missense_R126C 1:16535245-CT 1 16535245 [T/C] NM_153213 ARHGEF19 EXON Nonsense_W102X exm21620 1 16535288 [T/C] NM_153213 ARHGEF19 EXON Missense_E88K exm21633 1 16535497 [T/C] NM_153213 ARHGEF19 EXON Missense_G18D rs74054958 1 16538364 [G/C] NM_153213 ARHGEF19 Silent rs12751725 1 16539577 [A/G] rs12728772 1 16539813 [T/C] JHU_1.16541685 1 16541686 [A/G] rs145106751 1 16542526 [A/T] JHU_1.16543735 1 16543736 [A/G] 1:16547378-T-C 1 16547378 [T/C] rs145305666 1 16547755 [A/G] JHU_1.16547771 1 16547772 [T/G] 1:16555465-CT 1 16555465 [T/C] exm21642 1 16558641 [T/C] NM_030907 CPLANE2 EXON Missense_V227I chr1_16558674 1 16558674 [T/G] NM_030907 CPLANE2 EXON Missense_R216S exm21645 1 16558697 [A/G] NM_030907 CPLANE2 EXON Missense_P208L exm21649 1 16558748 [A/G] NM_030907 CPLANE2 EXON Missense_T191I 1:16559012-CT 1 16559012 [T/C] NM_030907 CPLANE2 EXON Missense_G174S 1:16559133-CT 1 16559133 [T/C] NM_030907 CPLANE2 EXON Missense_M133I 1:16559456-CA 1 16559456 [A/C] NM_030907 CPLANE2 EXON Missense_V108F 1:16559486-GA 1 16559486 [A/G] NM_030907 CPLANE2 EXON Missense_P98S exm21675 1 16560108 [A/G] NM_030907 CPLANE2 EXON Synonymous_T88T variant.1143 1 16560174 [T/C] NM_030907 CPLANE2 EXON Synonymous_V66V exm21682 1 16560248 [A/G] NM_030907 CPLANE2 EXON Missense_R42W rs2863845 1 16561179 [T/C] NM_030907 CPLANE2 Silent 1:16563149-CT 1 16563149 [T/C] NM_030907 CPLANE2 EXON Missense_R30H 1:16563180-CA 1 16563180 [A/C] NM_030907 CPLANE2 EXON Nonsense_E20X 1:16563182-GA 1 16563182 [A/G] NM_030907 CPLANE2 EXON Missense_A19V exm21687 1 16563190 [T/G] NM_030907 CPLANE2 EXON Missense_H16Q JHU_1.16563562 1 16563563 [G/C] NM_030907 CPLANE2 EXON Silent rs117634187 1 16568882 [A/G] JHU_1.16569017 1 16569018 [G/C] rs3738632 1 16574316 [T/C] NM_018994 FBXO42 EXON Silent exm21694 1 16577377 [T/C] NM_018994 FBXO42 EXON Missense_V648M exm21695 1 16577403 [A/G] NM_018994 FBXO42 EXON Missense_M639T 1:16577511-CT 1 16577511 [T/C] NM_018994 FBXO42 EXON Missense_R603H 1:16577735-GTCTCATACT-G 1 16577735 [I/D] NM_018994 FBXO42 EXON exm21709 1 16577794 [T/C] NM_018994 FBXO42 EXON Missense_A509T exm21713 1 16577908 [G/C] NM_018994 FBXO42 EXON Missense_P471A exm21720 1 16578016 [T/C] NM_018994 FBXO42 EXON Missense_G435S rs1008529 1 16582686 [A/G] NM_018994 FBXO42 Silent rs6698317 1 16591072 [A/G] NM_018994 FBXO42 Silent JHU_1.16599469 1 16599470 [A/C] NM_018994 FBXO42 Silent 1:16601780-G-A 1 16601780 [A/G] NM_018994 FBXO42 Silent JHU_1.16609491 1 16609492 [T/G] NM_018994 FBXO42 Silent rs78486408 1 16610458 [A/G] NM_018994 FBXO42 Silent rs192242285 1 16614302 [A/G] NM_018994 FBXO42 Silent rs116107243 1 16618751 [A/C] NM_018994 FBXO42 Silent rs77312254 1 16620415 [T/C] NM_018994 FBXO42 Silent rs2983160 1 16621432 [A/G] NM_018994 FBXO42 Silent rs78126223 1 16623799 [T/C] NM_018994 FBXO42 Silent JHU_1.16628187 1 16628188 [A/C] NM_018994 FBXO42 Silent variant.1145 1 16632373 [A/G] NM_018994 FBXO42 EXON Nonsense_Q98X 1:16632396-TC 1 16632396 [T/C] NM_018994 FBXO42 EXON Missense_Y90C 1:16641845-TG 1 16641845 [T/G] NM_018994 FBXO42 EXON Missense_E23D rs2273311 1 16641899 [T/C] NM_018994 FBXO42 EXON Synonymous_S5S rs11804252 1 16642849 [T/C] NM_018994 FBXO42 Silent JHU_1.16644635 1 16644636 [A/C] NM_018994 FBXO42 Silent rs4661736 1 16645277 [T/C] NM_018994 FBXO42 Silent rs140092613 1 16645311 [T/C] NM_018994 FBXO42 Silent JHU_1.16652420 1 16652421 [A/G] NM_018994 FBXO42 Silent rs11260727 1 16653299 [T/C] NM_018994 FBXO42 Silent rs12131407 1 16656518 [T/C] NM_018994 FBXO42 Silent JHU_1.16664861 1 16664862 [A/G] NM_018994 FBXO42 Silent JHU_1.16674821 1 16674822 [A/G] NM_018994 FBXO42 Silent 1:16676380-T-A 1 16676380 [A/T] NM_018994 FBXO42 Silent rs142182688 1 16694471 [T/G] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent rs2001913 1 16695917 [T/C] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.16696397 1 16696398 [A/C] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.16702596 1 16702597 [T/C] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent rs77309698 1 16702720 [T/C] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.16702719 1 16702720 [T/C] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.16704268 1 16704269 [A/G] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent rs117186717 1 16705069 [T/C] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent rs6603859 1 16706075 [T/G] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent 1:16706075-G-T 1 16706075 [T/G] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.16708066 1 16708067 [A/G] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 Silent,Silent,Silent,Silent,Silent,Silent 1:16719746-AG 1 16719746 [A/G] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 EXON Silent,Silent,Missense_K41R,Missense_K42R,Silent,Silent 1:16719848-AG 1 16719848 [A/G] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 EXON Silent,Silent,Missense_N75S,Missense_N76S,Silent,Silent 1:16721534-CA 1 16721534 [A/C] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 EXON Silent,Silent,Missense_P119T,Missense_P120T,Silent,Silent 1:16721628-GA 1 16721628 [A/G] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 EXON Silent,Silent,Missense_R150H,Missense_R151H,Silent,Silent 1:16721674-CT 1 16721674 [T/C] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1 EXON Silent,Silent,Silent,Silent,Silent,Silent JHU_1.16722691 1 16722692 [A/G] NR_073502,NR_073503,NM_001271869,NM_001114600,NR_073500,NR_073501,NR_148413 SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SZRD1,SPATA21 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm21789 1 16725271 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Nonsense_R444X,Nonsense_R467X rs117944955 1 16725271 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Nonsense_R444X,Nonsense_R467X rs41307763 1 16725330 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent 1:16725842-GT-G 1 16725842 [I/D] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON 1:16725884-GT 1 16725884 [T/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_P413H,Missense_P436H 1:16725896-AG-A 1 16725896 [D/I] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON rs138672627 1 16727235 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_R362Q,Missense_R385Q 1:16727293-GA 1 16727293 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_P343S,Missense_P366S exm21801 1 16727294 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Synonymous_N342N,Synonymous_N365N exm21804 1 16727329 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_V331I,Missense_V354I rs141634535 1 16727361 [A/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_G320V,Missense_G343V exm21806 1 16727361 [A/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_G320V,Missense_G343V exm21807 1 16727364 [T/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_E319A,Missense_E342A exm21808 1 16727387 [C/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_N311K,Missense_N334K JHU_1.16729982 1 16729983 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs76628633 1 16730276 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_S293F,Missense_S316F exm21810 1 16730308 [T/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_H282Q,Missense_H305Q 1:16730324-GA 1 16730324 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_S277L,Missense_S300L 1:16730463-CA 1 16730463 [A/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Nonsense_E272X,Nonsense_E295X exm21823 1 16731492 [C/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_E238Q,Missense_E261Q 1:16731506-GA 1 16731506 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_T233M,Missense_T256M exm21826 1 16731510 [G/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_V232L,Missense_V255L exm21827 1 16731518 [A/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_G229V,Missense_G252V exm21828 1 16731572 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_N211S,Missense_N234S 1:16731591-TC 1 16731591 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_S205G,Missense_S228G JHU_1.16731660 1 16731661 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs907796 1 16732860 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs150012567 1 16733428 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent exm21836 1 16735613 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_A202T,Missense_A225T 1:16736132-TC 1 16736132 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_Q161R,Missense_Q184R exm21841 1 16736132 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_Q161R,Missense_Q184R chr1_16736271 1 16736271 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_G115S,Missense_G138S exm2250195 1 16736272 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Synonymous_S114S,Synonymous_S137S exm21864 1 16736451 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_L55F,Missense_L78F exm21868 1 16736484 [C/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_Q44E,Missense_Q67E exm21870 1 16736526 [T/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_I30L,Missense_I53L exm21872 1 16736538 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_E26K,Missense_E49K rs10907226 1 16736546 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent 1:16737328-AG 1 16737328 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Missense_V7A,Silent JHU_1.16738305 1 16738306 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs7512556 1 16738963 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs2670494 1 16739907 [A/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs4661747 1 16739953 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs114515972 1 16741089 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent JHU_1.16748237 1 16748238 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs148237114 1 16748829 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs938262 1 16752057 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Silent,Silent 1:16752129-CA 1 16752129 [A/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Silent,Silent 1:16754410-TC 1 16754410 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 EXON Silent,Silent,Silent rs117921231 1 16758080 [A/G] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs11260756 1 16759616 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs11260757 1 16760037 [T/C] NR_148413,NM_001353349,NM_198546 SPATA21,SPATA21,SPATA21 Silent,Silent,Silent rs7530190 1 16765184 [A/C] rs80309531 1 16765792 [A/C] rs186580542 1 16766344 [T/C] exm21891 1 16767269 [G/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_G5R,Missense_G5R,Missense_G5R 1:16770141-A-AG 1 16770141 [D/I] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON exm21897 1 16770143 [G/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_L37V,Missense_L37V,Missense_L11V rs187571323 1 16771159 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent 1:16771649-G-A 1 16771649 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent rs821000 1 16773880 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent exm21901 1 16774403 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_G78S,Missense_G78S,Missense_G52S exm21903 1 16774425 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_T85M,Missense_T85M,Missense_T59M 1:16774452-GT 1 16774452 [T/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_R94L,Missense_R94L,Missense_R68L 1:16774584-GA 1 16774584 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_G110R,Missense_G110R,Missense_G84R variant.1158 1 16774590 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Nonsense_R112X,Nonsense_R112X,Nonsense_R86X JHU_1.16775314 1 16775315 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent rs279779 1 16776804 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent rs279781 1 16777812 [G/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent 1:16778366-CA 1 16778366 [A/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_P175T,Missense_P175T,Missense_P149T variant.1159 1 16778369 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Nonsense_R176X,Nonsense_R176X,Nonsense_R150X exm21918 1 16778370 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_R176Q,Missense_R176Q,Missense_R150Q exm21919 1 16778393 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_G184R,Missense_G184R,Missense_G158R rs78315241 1 16779103 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent rs74055681 1 16779120 [C/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent rs77359213 1 16781879 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent exm21928 1 16782322 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Silent,Missense_P226L,Missense_P200L 1:16782367-GA 1 16782367 [A/G] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Silent,Missense_G241E,Missense_G215E exm21936 1 16785394 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_T242M,Silent,Silent 1:16785463-TC 1 16785463 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Missense_L265P,Silent,Silent JHU_1.16786528 1 16786529 [T/C] NM_001145277,NM_018090,NM_001145278 NECAP2,NECAP2,NECAP2 EXON Silent,Silent,Silent rs79014590 1 16786935 [A/G] rs16852757 1 16794147 [T/G] NR_147210,NR_147211,NR_023386 LINC01772,LINC01772,CROCCP3 EXON Silent,Silent,Silent rs77848086 1 16794377 [T/C] NR_147210,NR_147211,NR_023386 LINC01772,LINC01772,CROCCP3 EXON Silent,Silent,Silent JHU_1.16797967 1 16797968 [T/A] NR_023386 CROCCP3 Silent 1:16799445-G-C 1 16799445 [C/G] NR_023386 CROCCP3 Silent rs113046523 1 16806835 [G/C] NR_023386 CROCCP3 Silent rs188525357 1 16807025 [A/G] NR_023386 CROCCP3 Silent rs183450167 1 16815123 [T/C] NR_023386 CROCCP3 Silent rs144872918 1 16816048 [A/G] NR_023386 CROCCP3 Silent rs143424313 1 16816096 [T/G] NR_023386 CROCCP3 Silent rs58126494 1 16816303 [T/C] NR_023386 CROCCP3 Silent JHU_1.16821248 1 16821249 [A/G] JHU_1.16826018 1 16826019 [G/C] JHU_1.16826324 1 16826325 [T/C] rs156865 1 16827791 [C/G] rs118153117 1 16827882 [T/C] JHU_1.16830791 1 16830792 [T/C] JHU_1.16831816 1 16831817 [A/G] rs7537985 1 16831863 [T/C] rs61769466 1 16832224 [A/G] JHU_1.16832849 1 16832850 [C/G] JHU_1.16833069 1 16833070 [A/G] JHU_1.16838585 1 16838586 [T/C] JHU_1.16840562 1 16840563 [A/G] JHU_1.16840785 1 16840786 [G/C] rs7530748 1 16845003 [T/G] JHU_1.16845002 1 16845003 [T/G] rs10907231 1 16851440 [T/C] JHU_1.16857367 1 16857368 [T/C] JHU_1.16859309 1 16859310 [T/C] JHU_1.16859537 1 16859538 [A/T] JHU_1.16860586 1 16860587 [A/C] NR_135765,NR_135764 LOC440570,LINC01783 EXON Silent,Silent JHU_1.16861556 1 16861557 [T/C] NR_135765,NR_135764 LOC440570,LINC01783 EXON Silent,Silent JHU_1.16865901 1 16865902 [T/C] JHU_1.16873112 1 16873113 [A/G] JHU_1.16881521 1 16881522 [T/C] exm21949 1 16890470 [A/C] NM_017940 NBPF1 EXON Missense_W1131C exm21951 1 16890475 [T/C] NM_017940 NBPF1 EXON Missense_T1130A 1:16890524-CT 1 16890524 [T/C] NM_017940 NBPF1 EXON Synonymous_S1113S JHU_1.16908891 1 16908892 [T/C] NM_017940 NBPF1 Silent JHU_1.16909616 1 16909617 [T/C] NM_017940 NBPF1 Silent JHU_1.16917093 1 16917094 [T/A] NM_017940 NBPF1 Silent JHU_1.16924937 1 16924938 [C/G] NM_017940 NBPF1 Silent JHU_1.16926640 1 16926641 [A/G] NM_017940 NBPF1 Silent JHU_1.16927397 1 16927398 [T/G] NM_017940 NBPF1 Silent 1:16932079-T-C 1 16932079 [T/C] NM_017940 NBPF1 Silent JHU_1.16936088 1 16936089 [T/C] NM_017940 NBPF1 Silent JHU_1.16949958 1 16949959 [A/G] NR_026752 CROCCP2 Silent JHU_1.16951467 1 16951468 [A/G] NR_026752 CROCCP2 Silent JHU_1.16952381 1 16952382 [T/C] NR_026752 CROCCP2 EXON Silent 1:16952679-T-C 1 16952679 [T/C] NR_026752 CROCCP2 Silent JHU_1.16960570 1 16960571 [A/C] JHU_1.16965001 1 16965002 [T/C] 1:16968252-C-T 1 16968252 [T/C] JHU_1.16969623 1 16969624 [A/G] JHU_1.16970651 1 16970652 [A/G] JHU_1.16977418 1 16977419 [G/C] rs377522920 1 16978326 [A/G] JHU_1.16979703 1 16979704 [T/C] rs2985125 1 17004186 [A/G] JHU_1.17004767 1 17004768 [T/C] rs1977269 1 17004850 [A/C] JHU_1.17006482 1 17006483 [A/C] JHU_1.17007830 1 17007831 [T/G] JHU_1.17007854 1 17007855 [T/C] JHU_1.17009579 1 17009580 [T/C] JHU_1.17013784 1 17013785 [T/C] JHU_1.17014575 1 17014576 [A/G] JHU_1.17017352 1 17017353 [A/G] JHU_1.17017819 1 17017820 [T/G] NR_026567 ESPNP Silent JHU_1.17020683 1 17020684 [C/G] NR_026567 ESPNP Silent JHU_1.17021730 1 17021731 [A/C] NR_026567 ESPNP Silent 1:17022937-GT 1 17022937 [T/G] NR_026567 ESPNP EXON Silent 1:17022988-GA 1 17022988 [A/G] NR_026567 ESPNP EXON Silent 1:17023065-GA 1 17023065 [A/G] NR_026567 ESPNP EXON Silent 1:17023284-GA 1 17023284 [A/G] NR_026567 ESPNP EXON Silent JHU_1.17023926 1 17023927 [T/C] NR_026567 ESPNP Silent JHU_1.17028895 1 17028896 [C/G] NR_026567 ESPNP Silent JHU_1.17029559 1 17029560 [A/G] NR_026567 ESPNP Silent 1:17030515-GA 1 17030515 [A/G] NR_026567 ESPNP EXON Silent 1:17030581-GA 1 17030581 [A/G] NR_026567 ESPNP EXON Silent 1:17030615-GA 1 17030615 [A/G] NR_026567 ESPNP EXON Silent JHU_1.17031768 1 17031769 [T/C] NR_026567 ESPNP Silent JHU_1.17033093 1 17033094 [T/G] NR_026567 ESPNP Silent JHU_1.17033302 1 17033303 [A/G] NR_026567 ESPNP Silent 1:17033438-T-C 1 17033438 [T/C] NR_026567 ESPNP Silent JHU_1.17035235 1 17035236 [T/C] NR_026567 ESPNP Silent JHU_1.17035440 1 17035441 [A/G] NR_026567 ESPNP Silent JHU_1.17036654 1 17036655 [G/C] NR_026567 ESPNP Silent JHU_1.17037041 1 17037042 [A/G] NR_026567 ESPNP Silent JHU_1.17038656 1 17038657 [A/G] NR_026567 ESPNP Silent JHU_1.17039779 1 17039780 [A/G] NR_026567 ESPNP Silent JHU_1.17040952 1 17040953 [T/G] NR_026567 ESPNP Silent JHU_1.17042816 1 17042817 [A/G] NR_026567 ESPNP Silent JHU_1.17044923 1 17044924 [A/G] NR_026567 ESPNP Silent JHU_1.17046401 1 17046402 [T/G] NR_026567 ESPNP Silent 1:17046462-GA 1 17046462 [A/G] NR_026567 ESPNP EXON Silent JHU_1.17048714 1 17048715 [A/G] JHU_1.17049261 1 17049262 [T/G] JHU_1.17050238 1 17050239 [T/C] JHU_1.17051790 1 17051791 [C/G] JHU_1.17053204 1 17053205 [T/C] JHU_1.17053567 1 17053568 [A/G] JHU_1.17053644 1 17053645 [A/G] JHU_1.17055935 1 17055936 [T/A] JHU_1.17087347 1 17087348 [G/C] NM_001271733 MST1L EXON Missense_S79T JHU_1.17088494 1 17088495 [A/T] NM_001271733 MST1L Silent JHU_1.17100277 1 17100278 [C/G] JHU_1.17106128 1 17106129 [T/C] JHU_1.17106249 1 17106250 [T/C] kgp6780284 1 17112979 [T/C] JHU_1.17116792 1 17116793 [A/C] JHU_1.17121547 1 17121548 [G/C] rs185202465 1 17182728 [G/C] JHU_1.17186748 1 17186749 [A/G] JHU_1.17196178 1 17196179 [A/G] 1:17200323-A-G 1 17200323 [A/G] NR_135765 LOC440570 EXON Silent JHU_1.17202354 1 17202355 [A/G] 1:17202599-G-A 1 17202599 [A/G] 1:17203811-G-C 1 17203811 [C/G] JHU_1.17206516 1 17206517 [A/C] 1:17207711-G-A 1 17207711 [A/G] JHU_1.17207710 1 17207711 [A/G] JHU_1.17209961 1 17209962 [T/C] JHU_1.17210639 1 17210640 [C/G] 1:17211078-A-G 1 17211078 [A/G] rs113760436 1 17211602 [A/G] JHU_1.17211615 1 17211616 [T/C] JHU_1.17211756 1 17211757 [C/G] JHU_1.17212698 1 17212699 [A/G] JHU_1.17214682 1 17214683 [A/G] JHU_1.17215335 1 17215336 [A/T] NR_135059,NR_135058,NR_135057,NR_135056 LOC105376805,LOC105376805,LOC105376805,LOC105376805 Silent,Silent,Silent,Silent JHU_1.17216369 1 17216370 [G/C] JHU_1.17217001 1 17217002 [A/G] JHU_1.17217305 1 17217306 [T/C] JHU_1.17218743 1 17218744 [T/C] JHU_1.17219484 1 17219485 [T/G] JHU_1.17222006 1 17222007 [G/C] JHU_1.17222174 1 17222175 [A/G] JHU_1.17223067 1 17223068 [A/G] JHU_1.17224760 1 17224761 [T/C] JHU_1.17224846 1 17224847 [A/G] JHU_1.17226323 1 17226324 [T/G] JHU_1.17227444 1 17227445 [T/A] JHU_1.17227626 1 17227627 [T/C] JHU_1.17230800 1 17230801 [T/C] JHU_1.17231012 1 17231013 [G/C] 1:17231276-G-C 1 17231276 [C/G] JHU_1.17231319 1 17231320 [T/A] rs368398614 1 17231734 [A/G] JHU_1.17231894 1 17231895 [T/C] JHU_1.17231944 1 17231945 [T/C] JHU_1.17231952 1 17231953 [T/C] JHU_1.17232014 1 17232015 [T/C] JHU_1.17232117 1 17232118 [A/G] JHU_1.17232438 1 17232439 [A/G] JHU_1.17233529 1 17233530 [A/G] JHU_1.17234970 1 17234971 [A/G] JHU_1.17235256 1 17235257 [A/G] JHU_1.17236309 1 17236310 [T/C] JHU_1.17236476 1 17236477 [T/C] rs145059083 1 17238561 [T/G] JHU_1.17239288 1 17239289 [A/G] JHU_1.17239507 1 17239508 [T/C] JHU_1.17240279 1 17240280 [A/G] JHU_1.17242699 1 17242700 [A/C] JHU_1.17242925 1 17242926 [G/C] 1:17244962-T-C 1 17244962 [T/C] JHU_1.17245744 1 17245745 [T/C] exm22337 1 17248532 [A/G] NM_014675 CROCC EXON Missense_R7G chr1_17248565 1 17248565 [T/G] NM_014675 CROCC EXON Missense_V18F exm22341 1 17249161 [A/C] NM_014675 CROCC EXON Missense_L22M exm22343 1 17249173 [A/G] NM_014675 CROCC EXON Missense_V26I exm22345 1 17249200 [A/G] NM_014675 CROCC EXON Missense_A35T exm22347 1 17249203 [T/C] NM_014675 CROCC EXON Missense_R36W 1:17249290-CA 1 17249290 [A/C] NM_014675 CROCC EXON Missense_P65T JHU_1.17249459 1 17249460 [T/G] NM_014675 CROCC Silent JHU_1.17250572 1 17250573 [T/C] NM_014675 CROCC Silent JHU_1.17250753 1 17250754 [T/C] NM_014675 CROCC Silent 1:17250856-CT 1 17250856 [T/C] NM_014675 CROCC EXON Missense_S78L exm22360 1 17250898 [A/G] NM_014675 CROCC EXON Missense_R92H 1:17250904-AG 1 17250904 [A/G] NM_014675 CROCC EXON Missense_E94G 1:17250924-CT 1 17250924 [T/C] NM_014675 CROCC EXON Missense_R101C exm22366 1 17250945 [A/G] NM_014675 CROCC EXON Missense_A108T JHU_1.17251592 1 17251593 [A/G] NM_014675 CROCC Silent JHU_1.17251929 1 17251930 [T/C] NM_014675 CROCC Silent JHU_1.17252391 1 17252392 [T/G] NM_014675 CROCC Silent JHU_1.17253273 1 17253274 [A/T] NM_014675 CROCC Silent JHU_1.17253315 1 17253316 [A/G] NM_014675 CROCC Silent JHU_1.17253576 1 17253577 [T/C] NM_014675 CROCC Silent rs139131226 1 17254061 [A/G] NM_014675 CROCC Silent JHU_1.17254147 1 17254148 [T/C] NM_014675 CROCC Silent JHU_1.17254225 1 17254226 [A/G] NM_014675 CROCC Silent rs6657762 1 17254959 [A/G] NM_014675 CROCC Silent JHU_1.17254958 1 17254959 [A/G] NM_014675 CROCC Silent JHU_1.17255808 1 17255809 [T/C] NM_014675 CROCC Silent chr1_17256357 1 17256357 [T/G] NM_014675 CROCC EXON Missense_R123L 1:17256783-CA 1 17256783 [A/C] NM_014675 CROCC EXON Missense_D208E 1:17256821-GA 1 17256821 [A/G] NM_014675 CROCC EXON Missense_R221Q exm22424 1 17257819 [T/C] NM_014675 CROCC EXON Missense_R295C exm22425 1 17257820 [T/G] NM_014675 CROCC EXON Missense_R295L exm22427 1 17257829 [T/C] NM_014675 CROCC EXON Missense_L298P exm22429 1 17257840 [G/C] NM_014675 CROCC EXON Missense_Q302E 1:17258127-C-T 1 17258127 [T/C] NM_014675 CROCC Silent JHU_1.17258941 1 17258942 [A/G] NM_014675 CROCC Silent JHU_1.17258989 1 17258990 [A/G] NM_014675 CROCC Silent JHU_1.17259302 1 17259303 [T/C] NM_014675 CROCC Silent JHU_1.17259360 1 17259361 [A/C] NM_014675 CROCC Silent JHU_1.17261747 1 17261748 [T/G] NM_014675 CROCC Silent Variant29 1 17263277 [D/I] NM_014675 CROCC EXON 1:17263304-CT 1 17263304 [T/C] NM_014675 CROCC EXON Missense_R377C 1:17263307-GA 1 17263307 [A/G] NM_014675 CROCC EXON Missense_E378K chr1_17263341 1 17263341 [A/G] NM_014675 CROCC EXON Missense_D389G 1:17264201-AG 1 17264201 [A/G] NM_014675 CROCC EXON Missense_N420S 1:17264973-GA 1 17264973 [A/G] NM_014675 CROCC EXON Missense_A457T 1:17265596-CA 1 17265596 [A/C] NM_014675 CROCC EXON Missense_L523M 1:17266460-AGAGC-A 1 17266460 [I/D] NM_014675 CROCC EXON exm22500 1 17266464 [G/C] NM_014675 CROCC EXON Missense_E562Q JHU_1.17269087 1 17269088 [A/C] NM_014675 CROCC Silent JHU_1.17269301 1 17269302 [T/C] NM_014675 CROCC Silent 1:17270356-T-C 1 17270356 [T/C] NM_014675 CROCC Silent JHU_1.17270431 1 17270432 [T/A] NM_014675 CROCC Silent 1:17270619-CA 1 17270619 [A/C] NM_014675 CROCC EXON Missense_S611R 1:17270773-CT 1 17270773 [T/C] NM_014675 CROCC EXON Missense_R663C JHU_1.17273324 1 17273325 [A/G] NM_014675 CROCC EXON Missense_E785K chr1_17273373 1 17273373 [T/C] NM_014675 CROCC EXON Missense_R801W JHU_1.17274232 1 17274233 [T/C] NM_014675 CROCC Silent rs11585710 1 17276223 [T/C] NM_014675 CROCC Silent 1:17277520-CT 1 17277520 [T/C] NM_014675 CROCC EXON Missense_A970V rs368001147 1 17279571 [A/G] NM_014675 CROCC Silent 1:17279810-GA 1 17279810 [A/G] NM_014675 CROCC EXON Missense_R1007Q 1:17279868-GT 1 17279868 [T/G] NM_014675 CROCC EXON Missense_E1026D 1:17279890-GA 1 17279890 [A/G] NM_014675 CROCC EXON Missense_E1034K rs2076606 1 17281003 [T/C] NM_014675 CROCC Silent 1:17281045-G-A 1 17281045 [A/G] NM_014675 CROCC Silent 1:17281231-CA 1 17281231 [A/C] NM_014675 CROCC EXON Missense_S1108R exm22640 1 17281235 [A/G] NM_014675 CROCC EXON Missense_V1110M exm22644 1 17281268 [T/C] NM_014675 CROCC EXON Missense_R1121W rs146830223 1 17281301 [A/G] NM_014675 CROCC EXON Missense_A1132T exm22651 1 17281359 [T/C] NM_014675 CROCC EXON Missense_S1151F 1:17281370-GT 1 17281370 [T/G] NM_014675 CROCC EXON Nonsense_E1155X JHU_1.17281657 1 17281658 [A/G] NM_014675 CROCC Silent 1:17281987-CT 1 17281987 [T/C] NM_014675 CROCC EXON Missense_R1216W 1:17282643-CT 1 17282643 [T/C] NM_014675 CROCC EXON Missense_R1286W JHU_1.17284497 1 17284498 [T/C] NM_014675 CROCC Silent 1:17285237-CT 1 17285237 [T/C] NM_014675 CROCC EXON Missense_R1342W 1:17287269-GA 1 17287269 [A/G] NM_014675 CROCC EXON Missense_R1350Q 1:17287290-GA 1 17287290 [A/G] NM_014675 CROCC EXON Missense_G1357D 1:17287304-CA 1 17287304 [A/C] NM_014675 CROCC EXON Missense_R1362S JHU_1.17290298 1 17290299 [T/G] NM_014675 CROCC Silent exm22700 1 17292223 [A/G] NM_014675 CROCC EXON Missense_G1471R 1:17292346-CT 1 17292346 [T/C] NM_014675 CROCC EXON Missense_R1512W rs139131241 1 17292347 [A/G] NM_014675 CROCC EXON Missense_R1512Q 1:17292594-CT 1 17292594 [T/C] NM_014675 CROCC EXON Missense_A1559V 1:17292870-G-A 1 17292870 [A/G] NM_014675 CROCC Silent rs182717735 1 17292906 [T/G] NM_014675 CROCC EXON Missense_R1567L rs114546248 1 17292924 [A/G] NM_014675 CROCC EXON Missense_R1573Q rs115823338 1 17292975 [A/G] NM_014675 CROCC EXON Missense_R1590H JHU_1.17293682 1 17293683 [T/C] NM_014675 CROCC Silent rs35991555 1 17293944 [A/G] NM_014675 CROCC Silent 1:17294654-G-A 1 17294654 [A/G] NM_014675 CROCC Silent rs74058342 1 17294685 [A/G] NM_014675 CROCC Silent 1:17294709-CA 1 17294709 [A/C] NM_014675 CROCC EXON Missense_S1624R 1:17294863-GA 1 17294863 [A/G] NM_014675 CROCC EXON Missense_E1676K rs199765517 1 17295659 [T/C] NM_014675 CROCC EXON Missense_R1709W 1:17295659-CT 1 17295659 [T/C] NM_014675 CROCC EXON Missense_R1709W 1:17295668-GA 1 17295668 [A/G] NM_014675 CROCC EXON Missense_G1712R exm22758 1 17296315 [C/G] NM_014675 CROCC EXON Missense_E1779D rs150925029 1 17296320 [A/G] NM_014675 CROCC EXON Missense_R1781Q exm22759 1 17296320 [A/G] NM_014675 CROCC EXON Missense_R1781Q rs79354809 1 17296361 [C/G] NM_014675 CROCC EXON Missense_R1795G exm22762 1 17296392 [A/G] NM_014675 CROCC EXON Missense_R1805Q 1:17296404-AC 1 17296404 [A/C] NM_014675 CROCC EXON Missense_E1809A exm22765 1 17296406 [A/G] NM_014675 CROCC EXON Missense_G1810S exm1735823 1 17296425 [A/G] NM_014675 CROCC EXON Missense_R1816Q rs74058345 1 17296722 [T/C] NM_014675 CROCC Silent 1:17296748-GA 1 17296748 [A/G] NM_014675 CROCC EXON Missense_V1818M exm22766 1 17296755 [A/G] NM_014675 CROCC EXON Missense_R1820Q 1:17296781-GA 1 17296781 [A/G] NM_014675 CROCC EXON Missense_A1829T exm22772 1 17296818 [A/G] NM_014675 CROCC EXON Missense_R1841Q exm22773 1 17296833 [A/G] NM_014675 CROCC EXON Missense_R1846H 1:17296838-GA 1 17296838 [A/G] NM_014675 CROCC EXON Missense_G1848R exm22776 1 17296853 [A/G] NM_014675 CROCC EXON Missense_A1853T 1:17296853-GA 1 17296853 [A/G] NM_014675 CROCC EXON Missense_A1853T JHU_1.17296881 1 17296882 [A/G] NM_014675 CROCC EXON Synonymous_R1862R chr1_17296887 1 17296887 [T/C] NM_014675 CROCC EXON Missense_V1864A exm22779 1 17296893 [A/G] NM_014675 CROCC EXON Missense_R1866H 1:17296938-CT 1 17296938 [T/C] NM_014675 CROCC EXON Missense_T1881M 1:17297062-G-T 1 17297062 [T/G] NM_014675 CROCC Silent exm22782 1 17297132 [T/C] NM_014675 CROCC EXON Missense_V1885A rs145138931 1 17297132 [T/C] NM_014675 CROCC EXON Missense_V1885A rs147926226 1 17297200 [T/C] NM_014675 CROCC EXON Missense_R1908C exm22788 1 17297200 [T/C] NM_014675 CROCC EXON Missense_R1908C exm22794 1 17297252 [A/C] NM_014675 CROCC EXON Missense_Q1925P 1:17298354-C-G 1 17298354 [G/C] NM_014675 CROCC Silent rs59468904 1 17298680 [T/C] NM_014675 CROCC Silent 1:17301672-T-C 1 17301672 [T/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent rs761422 1 17301780 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Synonymous_H144H,Synonymous_H144H,Synonymous_H143H,Synonymous_H143H rs187740466 1 17301832 [T/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_R127H,Missense_R127H,Missense_R126H,Missense_R126H exm22816 1 17301832 [T/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_R127H,Missense_R127H,Missense_R126H,Missense_R126H chr1_17303217 1 17303217 [T/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_P76Q,Missense_P76Q,Missense_P75Q,Missense_P75Q variant.1182 1 17303387 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent 1:17303589-C-T 1 17303589 [T/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent exm22832 1 17303609 [T/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_Q41R,Missense_Q41R,Missense_Q40R,Missense_Q40R rs187729751 1 17303630 [T/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_Q34P,Missense_Q34P,Missense_Q33P,Missense_Q33P exm2273620 1 17303651 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_P27L,Missense_P27L,Missense_P26L,Missense_P26L rs199598010 1 17303652 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_P27S,Missense_P27S,Missense_P26S,Missense_P26S 1:17304565-A-G 1 17304565 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent 1:17304759-CA 1 17304759 [A/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_A4S,Missense_A4S,Missense_A4S,Missense_A4S rs9435730 1 17305903 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent 1:17306029-C-A 1 17306029 [A/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent exm-rs2284746 1 17306675 [C/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent rs2284746 1 17306675 [C/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent JHU_1.17306698 1 17306699 [T/A] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent 1:17306699-T-A 1 17306699 [T/A] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent rs150806283 1 17307473 [A/C] NM_017459,NM_001135247 MFAP2,MFAP2 Silent,Silent 1:17308254-T-C 1 17308254 [T/C] 1:17308271-C-T 1 17308271 [T/C] 1:17309718-C-T 1 17309718 [T/C] rs9435734 1 17311190 [A/G] rs115122929 1 17311595 [T/C] JHU_1.17312241 1 17312242 [T/C] exm22841 1 17312485 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Missense_V1158M,Silent 1:17312560-CT 1 17312560 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Missense_V1133I,Silent exm22847 1 17312596 [T/A] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Missense_T1121S,Silent 1:17312713-GA 1 17312713 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Nonsense_Q1082X,Silent exm22854 1 17312743 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_P1167P,Missense_A1072T,Synonymous_P1172P exm22856 1 17312787 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R1153C,Missense_A1057V,Missense_R1158C 1:17312811-GA 1 17312811 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R1145W,Missense_P1049L,Missense_R1150W 1:17312820-GA 1 17312820 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R1142C,Missense_A1046V,Missense_R1147C exm22858 1 17312829 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A1139T,Missense_R1043H,Missense_A1144T 1:17312983-TC 1 17312983 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_N1122S,Silent,Missense_N1127S 1:17313043-GA 1 17313043 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A1102V,Silent,Missense_A1107V exm22865 1 17313049 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_P1100L,Silent,Missense_P1105L 1:17313157-G-A 1 17313157 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent 1:17313330-CT 1 17313330 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A1064T,Missense_A1025T,Missense_A1069T 1:17313583-CT 1 17313583 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G1009D,Missense_G970D,Missense_G1014D exm22897 1 17314633 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_T948T,Synonymous_T909T,Synonymous_T953T rs144557304 1 17314633 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_T948T,Synonymous_T909T,Synonymous_T953T exm22899 1 17314656 [A/T] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_I941F,Missense_I902F,Missense_I946F exm2231851 1 17314856 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_S903L,Missense_S864L,Missense_S908L 1:17314942-G-A 1 17314942 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_G874G,Synonymous_G835G,Synonymous_G879G 1:17316259-CT 1 17316259 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_V841I,Missense_V802I,Missense_V846I 1:17316456-GA 1 17316456 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Nonsense_R814X,Silent,Nonsense_R819X exm22926 1 17316686 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R778Q,Missense_R778Q,Missense_R783Q 1:17316695-TG 1 17316695 [T/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_H775P,Missense_H775P,Missense_H780P rs200924194 1 17316771 [C/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_Q750E,Missense_Q750E,Missense_Q755E rs2076604 1 17318065 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm22935 1 17318244 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A741T,Missense_A741T,Missense_A746T exm1736074 1 17318282 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T728M,Missense_T728M,Missense_T733M exm22947 1 17318610 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A669T,Missense_A669T,Missense_A674T exm22959 1 17320122 [A/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent 1:17320128-CA 1 17320128 [A/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G577V,Missense_G577V,Missense_G582V 1:17320240-GA 1 17320240 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R540C,Missense_R540C,Missense_R545C 1:17320326-CT 1 17320326 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G511D,Missense_G511D,Missense_G516D rs79501801 1 17321512 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent 1:17322397-CT 1 17322397 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent 1:17322503-G-C 1 17322503 [G/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G499R,Missense_G499R,Missense_G504R exm2231855 1 17322553 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R482Q,Missense_R482Q,Missense_R487Q exm22983 1 17322750 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R446Q,Missense_R446Q,Missense_R451Q exm22987 1 17322793 [G/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_L432V,Missense_L432V,Missense_L437V rs148026506 1 17322984 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_C396C,Synonymous_C396C,Synonymous_C401C rs55689004 1 17323505 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent 1:17323547-CT 1 17323547 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G383E,Missense_G383E,Missense_G388E rs142616130 1 17323602 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R365W,Missense_R365W,Missense_R370W exm23009 1 17323602 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R365W,Missense_R365W,Missense_R370W 1:17323631-CT 1 17323631 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G355E,Missense_G355E,Missense_G360E rs116488926 1 17323978 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent JHU_1.17325900 1 17325901 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent 1:17326550-GA 1 17326550 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A327V,Missense_A327V,Missense_A332V rs150519745 1 17326602 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G310R,Missense_G310R,Missense_G315R 1:17326747-CA 1 17326747 [A/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G296W,Missense_G296W,Missense_G301W exm23022 1 17326767 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R289Q,Missense_R289Q,Missense_R294Q exm23023 1 17326768 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R289W,Missense_R289W,Missense_R294W 1:17326784-CA 1 17326784 [A/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_M283I,Missense_M283I,Missense_M288I 1:17326950-CT 1 17326950 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_C257Y,Missense_C257Y,Missense_C262Y exm23031 1 17326989 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A244V,Missense_A244V,Missense_A249V rs9435668 1 17327519 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent 1:17328200-A-T 1 17328200 [A/T] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent 1:17328301-T-C 1 17328301 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent 1:17330453-A-G 1 17330453 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm23046 1 17331192 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Silent,Missense_G158R exm2250261 1 17331229 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_T145T,Synonymous_T145T,Synonymous_T145T 1:17331278-CT 1 17331278 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R129Q,Missense_R129Q,Missense_R129Q seq-rs749798211 1 17331313 [D/I] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON rs41273157 1 17331478 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm-rs3738814 1 17331676 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent rs3738814 1 17331676 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm23066 1 17332000 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_V53M,Missense_V53M,Missense_V53M rs56379718 1 17332012 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G49S,Missense_G49S,Missense_G49S exm23067 1 17332012 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G49S,Missense_G49S,Missense_G49S exm23076 1 17332249 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T12M,Missense_T12M,Missense_T12M JHU_1.17336197 1 17336198 [T/C] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent 1:17336521-G-T 1 17336521 [T/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent rs2076600 1 17337391 [A/G] NM_001141973,NM_001141974,NM_022089 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent rs118000855 1 17339312 [A/G] rs2647168 1 17340878 [T/C] 1:17342039-GTAAAT-G 1 17342039 [I/D] 1:17342659-G-T 1 17342659 [T/G] 1:17343904-A-C 1 17343904 [A/C] 1:17345435 1 17345431 [D/I] NM_003000 SDHB EXON 1:17018938 1 17345433 [D/I] NM_003000 SDHB EXON 1:17018944_IlmnFwd 1 17345438 [D/I] NM_003000 SDHB EXON 1:17018944_IlmnRev 1 17345438 [D/I] NM_003000 SDHB EXON rs2871775 1 17345905 [A/G] NM_003000 SDHB Silent ilmnseq_rs115561881 1 17349090 [T/C] NM_003000 SDHB Silent 1:17022611_IlmnDup1 1 17349106 [D/I] NM_003000 SDHB EXON rs34309090 1 17349107 [D/I] NM_003000 SDHB EXON seq-rs786201085 1 17349110 [T/C] NM_003000 SDHB EXON Missense_C253Y IlmnSeq_rs786201085 1 17349110 [T/C] NM_003000 SDHB EXON Missense_C253Y ilmnseq_rs1057517537 1 17349119 [A/G] NM_003000 SDHB EXON Missense_T250I ilmnseq_rs200896502 1 17349129 [T/C] NM_003000 SDHB EXON Missense_M247V rs146800605_ilmndup1 1 17349132 [T/C] NM_003000 SDHB EXON Missense_I246V ilmnseq_rs146800605 1 17349132 [T/C] NM_003000 SDHB EXON Missense_I246V rs146800605 1 17349132 [T/C] NM_003000 SDHB EXON Missense_I246V rs74315368 1 17349143 [T/C] NM_003000 SDHB EXON Missense_R242H IlmnSeq_rs786203251 1 17349144 [A/G] NM_003000 SDHB EXON Missense_R242C seq-rs786203251 1 17349144 [A/G] NM_003000 SDHB EXON Missense_R242C ilmnseq_rs794728950 1 17349147 [I/D] NM_003000 SDHB EXON seq-rs794728950 1 17349147 [I/D] NM_003000 SDHB EXON ilmnseq_rs587781266 1 17349149 [D/I] NM_003000 SDHB EXON ilmnseq_rs1060503764 1 17349150 [I/D] NM_003000 SDHB EXON ilmnseq_rs876660642 1 17349155 [I/D] NM_003000 SDHB EXON exm2231860 1 17349159 [A/G] NM_003000 SDHB EXON Missense_P237S rs201728852 1 17349168 [A/G] NM_003000 SDHB EXON Synonymous_L234L 1:17022676 1 17349171 [A/T] NM_003000 SDHB EXON Nonsense_K233X 1:17349171 1 17349171 [A/T] NM_003000 SDHB EXON Nonsense_K233X seq-rs587782604 1 17349179 [T/C] NM_003000 SDHB EXON Missense_R230H seq-rs587782604.1 1 17349179 [A/C] NM_003000 SDHB EXON Missense_R230L rs138996609 1 17349180 [A/G] NM_003000 SDHB EXON Missense_R230C Variant48045 1 17349180 [A/G] NM_003000 SDHB EXON Missense_R230C 1:17022687 1 17349182 [D/I] NM_003000 SDHB EXON 1:17349183 1 17349183 [D/I] NM_003000 SDHB EXON ilmnseq_rs762812025 1 17349184 [I/D] NM_003000 SDHB EXON Variant15871 1 17349184 [I/D] NM_003000 SDHB EXON ilmnseq_rs878854578 1 17349209 [A/G] NM_003000 SDHB EXON Missense_I220T rs916516745 1 17349214 [T/C] NM_003000 SDHB EXON Nonsense_W218X ilmnseq_rs916516745 1 17349214 [T/C] NM_003000 SDHB EXON Nonsense_W218X 1:17022720 1 17349215 [G/C] NM_003000 SDHB EXON Missense_W218S 1:17349215 1 17349215 [G/C] NM_003000 SDHB EXON Missense_W218S rs200245469 1 17349219 [A/G] NM_003000 SDHB EXON Missense_R217C 1:17349221 1 17349221 [T/C] NM_003000 SDHB EXON Missense_Y216C 1:17349226 1 17349226 [T/C] NM_003000 SDHB Silent 1:17022731 1 17349226 [T/C] NM_003000 SDHB Silent JHU_1.17349718 1 17349719 [T/C] NM_003000 SDHB Silent JHU_1.17349818 1 17349819 [T/C] NM_003000 SDHB Silent JHU_1.17349829 1 17349830 [T/C] NM_003000 SDHB Silent 1:17350201-G-A 1 17350201 [A/G] NM_003000 SDHB Silent rs876660368 1 17350462 [D/I] NM_003000 SDHB ilmnseq_rs876660368 1 17350462 [D/I] NM_003000 SDHB 1:17023971 1 17350466 [A/C] NM_003000 SDHB Silent 1:17350466 1 17350466 [A/C] NM_003000 SDHB Silent rs1131691052.2_F2BT 1 17350467 [T/C] NM_003000 SDHB Silent ilmnseq_rs1131691052.2_F2BT 1 17350467 [T/C] NM_003000 SDHB Silent ilmnseq_rs1131691052.1_F2BT 1 17350467 [C/G] NM_003000 SDHB Silent rs1131691052.1_F2BT 1 17350467 [C/G] NM_003000 SDHB Silent 1:17023973 1 17350468 [A/C] NM_003000 SDHB EXON Missense_Q214H 1:17350468 1 17350468 [A/C] NM_003000 SDHB EXON Missense_Q214H IlmnSeq_rs876658461 1 17350470 [A/G] NM_003000 SDHB EXON Nonsense_Q214X ilmnseq_rs1131691047 1 17350471 [D/I] NM_003000 SDHB EXON rs202014362 1 17350472 [A/G] NM_003000 SDHB EXON Missense_M213T 1:17350476 1 17350476 [A/G] NM_003000 SDHB EXON Missense_L212F 1:17023981 1 17350476 [A/G] NM_003000 SDHB EXON Missense_L212F ilmnseq_rs1060503752 1 17350489 [I/D] NM_003000 SDHB EXON 1:17350490 1 17350489 [I/D] NM_003000 SDHB EXON rs587782617 1 17350494 [D/I] NM_003000 SDHB EXON seq-rs587782617 1 17350494 [I/D] NM_003000 SDHB EXON ilmnseq_rs587782617 1 17350494 [I/D] NM_003000 SDHB EXON rs587782617_ilmndup1 1 17350494 [I/D] NM_003000 SDHB EXON rs1131691050 1 17350500 [D/I] NM_003000 SDHB EXON 1:17024007_IlmnRev 1 17350502 [D/I] NM_003000 SDHB EXON Variant48047 1 17350503 [T/C] NM_003000 SDHB EXON Missense_G203R rs1131691053 1 17350504 [I/D] NM_003000 SDHB EXON rs1131691059_mnv 1 17350506 [T/C] NM_003000 SDHB EXON Missense_N202D ilmnseq_rs1131691059_mnv 1 17350506 [T/C] NM_003000 SDHB EXON Missense_N202D 1:17350508 1 17350508 [T/C] NM_003000 SDHB EXON Nonsense_W201X seq-rs397516836 1 17350510 [T/C] NM_003000 SDHB EXON Nonsense_W200X seq-rs397516836.1 1 17350510 [A/C] NM_003000 SDHB EXON Missense_W200C ilmnseq_rs397516836 1 17350510 [A/C] NM_003000 SDHB EXON Missense_W200C 1:17350519 1 17350519 [D/I] NM_003000 SDHB EXON rs74315367 1 17350520 [C/G] NM_003000 SDHB EXON Missense_P197R 1:17350520-C-G 1 17350520 [C/G] NM_003000 SDHB EXON Missense_P197R IlmnSeq_rs876658367 1 17350523 [T/C] NM_003000 SDHB EXON Missense_C196Y seq-rs397516835.1 1 17350535 [T/C] NM_003000 SDHB EXON Missense_C192Y ilmnseq_rs397516835 1 17350535 [T/C] NM_003000 SDHB EXON Missense_C192Y rs397516835 1 17350535 [C/G] NM_003000 SDHB EXON Missense_C192S seq-rs786202732 1 17350536 [A/G] NM_003000 SDHB EXON Missense_C192R IlmnSeq_rs786202732 1 17350536 [A/G] NM_003000 SDHB EXON Missense_C192R IlmnSeq_rs876658540 1 17350544 [A/C] NM_003000 SDHB EXON Missense_C189F ilmnseq_rs1045881797 1 17350557 [T/C] NM_003000 SDHB EXON Missense_E185K rs1045881797 1 17350557 [T/C] NM_003000 SDHB EXON Missense_E185K ilmnseq_rs202098600 1 17350558 [A/G] NM_003000 SDHB EXON Synonymous_Y184Y ilmnseq_rs199809975 1 17350567 [A/G] NM_003000 SDHB EXON Synonymous_D181D rs201385062 1 17350569 [T/C] NM_003000 SDHB EXON Missense_D181N seq-rs786201161 1 17350571 [T/C] NM_003000 SDHB Silent 1:17354243 1 17354243 [T/C] NM_003000 SDHB Silent 1:17027748 1 17354243 [T/C] NM_003000 SDHB Silent 1:17027752_IlmnFwd 1 17354246 [I/D] NM_003000 SDHB EXON 1:17027752_IlmnFwd_ilmndup2 1 17354246 [I/D] NM_003000 SDHB EXON ilmnseq_rs150437793 1 17354254 [T/C] NM_003000 SDHB EXON Missense_R177H 1:17027762_MNV 1 17354257 [T/C] NM_003000 SDHB EXON Missense_E176G seq-rs794728946 1 17354258 [A/C] NM_003000 SDHB EXON Nonsense_E176X 1:17027784 1 17354279 [A/G] NM_003000 SDHB EXON Nonsense_Q169X 1:17354279 1 17354279 [A/G] NM_003000 SDHB EXON Nonsense_Q169X 1:17027787 1 17354282 [A/G] NM_003000 SDHB EXON Nonsense_Q168X 1:17354282 1 17354282 [A/G] NM_003000 SDHB EXON Nonsense_Q168X 1:17354285 1 17354285 [A/T] NM_003000 SDHB EXON Nonsense_K167X 1:17027798_IlmnRev 1 17354293 [I/D] NM_003000 SDHB EXON 1:17027798_IlmnFwd 1 17354293 [I/D] NM_003000 SDHB EXON 1:17027799 1 17354294 [A/G] NM_003000 SDHB EXON Nonsense_Q164X 1:17354294 1 17354294 [A/G] NM_003000 SDHB EXON Nonsense_Q164X ilmnseq_rs769687734 1 17354296 [A/G] NM_003000 SDHB EXON Missense_S163F rs33927012 1 17354297 [A/G] NM_003000 SDHB EXON Missense_S163P exm23089 1 17354297 [A/G] NM_003000 SDHB EXON Missense_S163P seq-rs794728949 1 17354303 [D/I] NM_003000 SDHB EXON ilmnseq_rs794728949 1 17354303 [D/I] NM_003000 SDHB EXON exm23090 1 17354329 [A/G] NM_003000 SDHB EXON Missense_S152F IlmnSeq_rs876658451 1 17354339 [A/G] NM_003000 SDHB EXON Nonsense_Q149X ilmnseq_rs876659491 1 17354342 [D/I] NM_003000 SDHB EXON 1:17354343 1 17354343 [A/C] NM_003000 SDHB EXON Nonsense_Y147X rs774568101 1 17354344 [T/C] NM_003000 SDHB EXON Missense_Y147C rs1131691060 1 17354361 [T/C] NM_003000 SDHB Silent ilmnseq_rs1131691060 1 17354361 [T/C] NM_003000 SDHB Silent rs386134266 1 17354373 [D/I] NM_003000 SDHB ilmnseq_rs34261028 1 17354374 [D/I] NM_003000 SDHB rs34261028 1 17354374 [D/I] NM_003000 SDHB rs190139590 1 17355075 [T/A] NM_003000 SDHB Silent seq-rs398122805 1 17355094 [T/C] NM_003000 SDHB Silent newrs150542357 1 17355095 [A/G] NM_003000 SDHB EXON Synonymous_P141P ilmnseq_rs150542357 1 17355095 [A/G] NM_003000 SDHB EXON Synonymous_P141P rs267607032 1 17355100 [A/C] NM_003000 SDHB EXON Missense_V140F rs397516834 1 17355103 [A/G] NM_003000 SDHB EXON Missense_L139F ilmnseq_rs397516834 1 17355103 [A/G] NM_003000 SDHB EXON Missense_L139F rs201585157 1 17355115 [T/C] NM_003000 SDHB EXON Missense_V135M 1:17028624_IlmnRev_ilmndup1 1 17355118 [D/I] NM_003000 SDHB EXON 1:17028624_IlmnRev 1 17355118 [D/I] NM_003000 SDHB EXON ilmnseq_rs74315372 1 17355123 [T/G] NM_003000 SDHB EXON Missense_H132P 1:17355126 1 17355126 [D/I] NM_003000 SDHB EXON seq-rs786201095 1 17355138 [A/C] NM_003000 SDHB EXON Missense_I127S ilmnseq_rs201372280 1 17355139 [T/G] NM_003000 SDHB EXON Missense_I127L IlmnSeq_rs786203506 1 17355144 [C/G] NM_003000 SDHB EXON Nonsense_S125X 1:17028653 1 17355148 [I/D] NM_003000 SDHB EXON 1:17355149 1 17355149 [I/D] NM_003000 SDHB EXON 1:17028671 1 17355166 [D/I] NM_003000 SDHB EXON IlmnSeq_rs751000085 1 17355175 [A/G] NM_003000 SDHB EXON Nonsense_R115X seq-rs751000085 1 17355175 [A/G] NM_003000 SDHB EXON Nonsense_R115X IlmnSeq_rs864321636 1 17355180 [G/C] NM_003000 SDHB EXON Missense_C113S ilmnseq_rs794728948 1 17355184 [I/D] NM_003000 SDHB EXON rs794728948 1 17355184 [I/D] NM_003000 SDHB EXON ilmnseq_rs1060503751 1 17355186 [D/I] NM_003000 SDHB EXON ilmnseq_rs934514080 1 17355201 [T/C] NM_003000 SDHB EXON Missense_N106S ilmnseq_rs786201316 1 17355207 [T/C] NM_003000 SDHB EXON Missense_N104S 1:17355211-TC 1 17355211 [T/C] NM_003000 SDHB EXON Missense_M103V rs74315371 1 17355216 [T/C] NM_003000 SDHB EXON Missense_C101Y ilmnseq_rs11541235 1 17355218 [A/G] NM_003000 SDHB EXON Synonymous_S100S rs121917755 1 17355219 [A/G] NM_003000 SDHB EXON Missense_S100F ilmnseq_rs878854576 1 17355222 [T/C] NM_003000 SDHB EXON Missense_G99D Variant48053 1 17355231 [T/C] NM_003000 SDHB EXON Missense_G96D seq-rs397516833 1 17355232 [G/C] NM_003000 SDHB Silent 1:17355233 1 17355233 [T/C] NM_003000 SDHB Silent 1:17028739 1 17355234 [G/C] NM_003000 SDHB Silent ilmnseq_rs200419171 1 17355235 [A/G] NM_003000 SDHB Silent ilmnseq_rs201397253 1 17355257 [T/C] NM_003000 SDHB Silent rs7550829 1 17357577 [T/C] NM_003000 SDHB Silent seq-rs587781270 1 17359553 [A/T] NM_003000 SDHB Silent IlmnSeq_rs587781270 1 17359553 [A/T] NM_003000 SDHB Silent seq-rs786201063 1 17359554 [T/C] NM_003000 SDHB Silent IlmnSeq_rs786201063 1 17359554 [T/C] NM_003000 SDHB Silent seq-rs587782243 1 17359555 [T/C] NM_003000 SDHB EXON Missense_G96S ilmnseq_rs1131691054 1 17359563 [A/C] NM_003000 SDHB EXON Missense_C93F rs1131691054 1 17359563 [A/C] NM_003000 SDHB EXON Missense_C93F rs727503415 1 17359564 [A/G] NM_003000 SDHB EXON Missense_C93R ilmnseq_rs727503415 1 17359564 [A/G] NM_003000 SDHB EXON Missense_C93R 1:17033071 1 17359566 [T/G] NM_003000 SDHB EXON Nonsense_S92X 1:17359567 1 17359567 [A/G] NM_003000 SDHB EXON Missense_S92P 1:17033072 1 17359567 [A/G] NM_003000 SDHB EXON Missense_S92P IlmnSeq_rs878854575 1 17359570 [T/A] NM_003000 SDHB EXON Nonsense_R91X variant.1199 1 17359572 [T/C] NM_003000 SDHB EXON Missense_R90Q seq-rs570278423 1 17359572 [T/C] NM_003000 SDHB EXON Missense_R90Q IlmnSeq_rs727504457 1 17359581 [A/G] NM_003000 SDHB EXON Missense_L87S seq-rs727504457 1 17359581 [A/G] NM_003000 SDHB EXON Missense_L87S IlmnSeq_rs864321637 1 17359590 [T/G] NM_003000 SDHB EXON Missense_D84A rs1131691051 1 17359603 [T/C] NM_003000 SDHB EXON Missense_K80E ilmnseq_rs1131691051 1 17359603 [T/C] NM_003000 SDHB EXON Missense_K80E IlmnSeq_rs864321638 1 17359614 [A/C] NM_003000 SDHB EXON Nonsense_L76X ilmnseq_rs876658713 1 17359620 [T/G] NM_003000 SDHB EXON Missense_D74A ilmnseq_rs794728947_ilmndup1 1 17359630 [D/I] NM_003000 SDHB EXON seq-rs794728947 1 17359630 [D/I] NM_003000 SDHB EXON rs794728947 1 17359630 [D/I] NM_003000 SDHB EXON seq-rs587782904 1 17359638 [T/C] NM_003000 SDHB EXON Missense_C68Y IlmnSeq_rs587782904 1 17359638 [T/C] NM_003000 SDHB EXON Missense_C68Y IlmnSeq_rs878854574 1 17359642 [T/G] NM_003000 SDHB Silent ilmnseq_rs1022580 1 17359676 [A/C] NM_003000 SDHB Silent rs2647158 1 17361781 [A/G] NM_003000 SDHB Silent rs4920653 1 17366871 [T/C] NM_003000 SDHB Silent rs76959903 1 17368381 [A/C] NM_003000 SDHB Silent variant.1200 1 17371249 [T/C] NM_003000 SDHB Silent IlmnSeq_rs876659330 1 17371253 [G/C] NM_003000 SDHB Silent IlmnSeq_rs876659329 1 17371262 [A/T] NM_003000 SDHB EXON Missense_L65H rs786202185 1 17371263 [A/G] NM_003000 SDHB EXON Missense_L65F 1:17044771 1 17371266 [D/I] NM_003000 SDHB EXON rs760169139 1 17371273 [A/G] NM_003000 SDHB EXON Synonymous_Y61Y exm23100 1 17371278 [T/C] NM_003000 SDHB EXON Missense_T60A 1:17371284 1 17371284 [T/C] NM_003000 SDHB EXON Missense_M58V rs786202100 1 17371286 [D/I] NM_003000 SDHB EXON exm23101 1 17371286 [T/C] NM_003000 SDHB EXON Missense_H57R seq-rs786202100 1 17371286 [D/I] NM_003000 SDHB EXON ilmnseq_rs786202100 1 17371286 [D/I] NM_003000 SDHB EXON exm23102 1 17371298 [T/C] NM_003000 SDHB EXON Missense_G53E rs34916635 1 17371298 [T/C] NM_003000 SDHB EXON Missense_G53E rs202101384 1 17371313 [T/A] NM_003000 SDHB EXON Missense_D48V 1:17371315 1 17371315 [T/C] NM_003000 SDHB EXON Nonsense_W47X ilmnseq_rs864321639 1 17371317 [I/D] NM_003000 SDHB EXON ilmnseq_rs864321639_ilmndup1 1 17371317 [I/D] NM_003000 SDHB EXON rs864321639 1 17371317 [I/D] NM_003000 SDHB EXON Variant48059 1 17371319 [T/C] NM_003000 SDHB EXON Missense_R46Q seq-rs772551056 1 17371319 [T/C] NM_003000 SDHB EXON Missense_R46Q rs74315370 1 17371320 [G/C] NM_003000 SDHB EXON Missense_R46G 1:17371320-C-G 1 17371320 [G/C] NM_003000 SDHB EXON Missense_R46G ilmnseq_rs878854572_ilmndup1 1 17371330 [I/D] NM_003000 SDHB EXON ilmnseq_rs878854572 1 17371330 [I/D] NM_003000 SDHB EXON 1:17371343-CT 1 17371343 [T/C] NM_003000 SDHB EXON Missense_R38H 1:17044849_IlmnFwd 1 17371344 [D/I] NM_003000 SDHB EXON Variant48061 1 17371344 [A/G] NM_003000 SDHB EXON Missense_R38C Variant15872 1 17371368 [D/I] NM_003000 SDHB EXON ilmnseq_rs747198089 1 17371368 [D/I] NM_003000 SDHB EXON rs373976827 1 17371376 [T/C] NM_003000 SDHB EXON Missense_R27Q ilmnseq_rs373976827 1 17371376 [T/C] NM_003000 SDHB EXON Missense_R27Q seq-rs74315369 1 17371377 [A/G] NM_003000 SDHB EXON Nonsense_R27X rs1131691055 1 17371384 [T/C] NM_003000 SDHB Silent ilmnseq_rs1131691055 1 17371384 [T/C] NM_003000 SDHB Silent 1:17371392 1 17371392 [T/C] NM_003000 SDHB Silent 1:17044897 1 17371392 [T/C] NM_003000 SDHB Silent rs76861060 1 17371586 [T/C] NM_003000 SDHB Silent JHU_1.17376475 1 17376476 [C/G] NM_003000 SDHB Silent seq-rs587782703 1 17380442 [A/C] NM_003000 SDHB Silent exm23108 1 17380450 [G/C] NM_003000 SDHB EXON Missense_C22S rs1131691056 1 17380470 [D/I] NM_003000 SDHB EXON exm2231866 1 17380471 [A/G] NM_003000 SDHB EXON Missense_A15V exm23111 1 17380483 [T/C] NM_003000 SDHB EXON Missense_R11H rs111430410 1 17380483 [T/C] NM_003000 SDHB EXON Missense_R11H rs200868378 1 17380484 [A/G] NM_003000 SDHB EXON Missense_R11C IlmnSeq_rs786203800 1 17380489 [T/A] NM_003000 SDHB EXON Nonsense_L9X ilmnseq_rs148738139 1 17380491 [A/G] NM_003000 SDHB EXON Synonymous_S8S ilmnseq_rs1060503767 1 17380492 [I/D] NM_003000 SDHB EXON rs1060503767 1 17380492 [I/D] NM_003000 SDHB EXON 1:17380507-C-G 1 17380507 [C/G] NM_003000 SDHB EXON Missense_A3G rs1131691061 1 17380512 [T/C] NM_003000 SDHB EXON Missense_M1I ilmnseq_rs1131691061 1 17380512 [T/C] NM_003000 SDHB EXON Missense_M1I ilmnseq_rs1131691049 1 17380514 [A/T] NM_003000 SDHB EXON Missense_M1L rs2647209 1 17382562 [T/C] rs4920442 1 17388770 [T/C] rs78464635 1 17390190 [A/G] 1:17391666-C-T 1 17391666 [T/C] JHU_1.17394695 1 17394696 [A/G] NM_007365 PADI2 EXON Silent exm2273318 1 17395480 [A/G] NM_007365 PADI2 EXON Silent rs2076598 1 17395521 [A/G] NM_007365 PADI2 EXON Silent exm23124 1 17395640 [T/C] NM_007365 PADI2 EXON Missense_D633N exm23125 1 17395655 [T/C] NM_007365 PADI2 EXON Missense_E628K JHU_1.17395655 1 17395656 [A/G] NM_007365 PADI2 EXON Synonymous_L627L indel.1206 1 17395659 [D/I] NM_007365 PADI2 EXON exm23129 1 17395682 [A/G] NM_007365 PADI2 EXON Missense_R619C exm23138 1 17395772 [A/C] NM_007365 PADI2 EXON Missense_V589L rs138754221 1 17396072 [A/G] NM_007365 PADI2 Silent exm23140 1 17396608 [T/C] NM_007365 PADI2 EXON Missense_R580H exm23142 1 17396636 [T/C] NM_007365 PADI2 EXON Missense_A571T 1:17396693-GA 1 17396693 [A/G] NM_007365 PADI2 EXON Missense_R552C 1:17396810-C-T 1 17396810 [T/C] NM_007365 PADI2 Silent rs2016693 1 17397704 [A/C] NM_007365 PADI2 Silent JHU_1.17398424 1 17398425 [A/G] NM_007365 PADI2 Silent rs148112653 1 17399049 [T/G] NM_007365 PADI2 Silent rs11587313 1 17401694 [T/G] NM_007365 PADI2 Silent exm23164 1 17402215 [T/C] NM_007365 PADI2 EXON Missense_V472M exm23169 1 17402307 [T/C] NM_007365 PADI2 EXON Missense_R441Q JHU_1.17402566 1 17402567 [A/G] NM_007365 PADI2 Silent rs61568054 1 17405605 [C/G] NM_007365 PADI2 Silent 1:17405786-CT 1 17405786 [T/C] NM_007365 PADI2 EXON Missense_R428H rs2057096 1 17405809 [A/G] NM_007365 PADI2 EXON Synonymous_N420N exm23175 1 17405814 [T/C] NM_007365 PADI2 EXON Missense_V419M rs2057094 1 17405949 [T/C] NM_007365 PADI2 Silent JHU_1.17407206 1 17407207 [A/C] NM_007365 PADI2 Silent JHU_1.17407213 1 17407214 [T/A] NM_007365 PADI2 Silent rs2076617 1 17409017 [A/G] NM_007365 PADI2 Silent 1:17409123-CT 1 17409123 [T/C] NM_007365 PADI2 EXON Missense_E359K exm23188 1 17410253 [A/G] NM_007365 PADI2 EXON Nonsense_Q340X 1:17411109-GA 1 17411109 [A/G] NM_007365 PADI2 EXON Missense_S308L 1:17411134-TC 1 17411134 [T/C] NM_007365 PADI2 EXON Missense_T300A 1:17411164-CT 1 17411164 [T/C] NM_007365 PADI2 EXON Missense_V290M rs2647185 1 17412770 [A/G] NM_007365 PADI2 Silent 1:17413072-CT 1 17413072 [T/C] NM_007365 PADI2 EXON Missense_E260K exm23205 1 17413075 [T/C] NM_007365 PADI2 EXON Missense_D259N 1:17413096-CT 1 17413096 [T/C] NM_007365 PADI2 EXON Missense_V252M 1:17413114-CT 1 17413114 [T/C] NM_007365 PADI2 EXON Missense_A246T JHU_1.17413120 1 17413121 [A/C] NM_007365 PADI2 EXON Synonymous_G243G exm23211 1 17413152 [T/C] NM_007365 PADI2 EXON Missense_R233Q exm23213 1 17413176 [T/C] NM_007365 PADI2 EXON Missense_R225H exm23214 1 17413177 [A/G] NM_007365 PADI2 EXON Missense_R225C rs2076614 1 17413459 [A/G] NM_007365 PADI2 Silent JHU_1.17416491 1 17416492 [T/C] NM_007365 PADI2 Silent rs2014725 1 17417253 [T/C] NM_007365 PADI2 Silent JHU_1.17417957 1 17417958 [T/C] NM_007365 PADI2 Silent rs142057073 1 17418339 [A/G] NM_007365 PADI2 Silent exm23223 1 17418963 [T/C] NM_007365 PADI2 EXON Missense_E199K exm23233 1 17420121 [T/C] NM_007365 PADI2 EXON Missense_R157Q exm23234 1 17420146 [T/C] NM_007365 PADI2 EXON Missense_A149T JHU_1.17421745 1 17421746 [A/T] NM_007365 PADI2 Silent JHU_1.17421763 1 17421764 [T/C] NM_007365 PADI2 Silent exm1736795 1 17422451 [T/C] NM_007365 PADI2 EXON Missense_V122M rs189696506 1 17427914 [T/G] NM_007365 PADI2 Silent exm23247 1 17429541 [T/C] NM_007365 PADI2 EXON Missense_Y97C 1:17431417-GA 1 17431417 [A/G] NM_007365 PADI2 EXON Missense_R78W exm23253 1 17431434 [A/G] NM_007365 PADI2 EXON Missense_S72L rs910224 1 17432745 [A/G] NM_007365 PADI2 Silent rs2746497 1 17434189 [T/C] NM_007365 PADI2 Silent rs61769266 1 17439450 [T/C] NM_007365 PADI2 Silent rs2143810 1 17440854 [A/C] NM_007365 PADI2 Silent JHU_1.17441726 1 17441727 [T/C] NM_007365 PADI2 Silent rs77590217 1 17441727 [T/C] NM_007365 PADI2 Silent rs1005753 1 17444769 [T/G] NM_007365 PADI2 Silent JHU_1.17447274 1 17447275 [T/G] rs74059130 1 17448839 [T/C] JHU_1.17449169 1 17449170 [T/C] rs2647180 1 17451275 [T/G] rs12036047 1 17457743 [T/C] JHU_1.17459325 1 17459326 [A/C] rs910223 1 17459855 [T/C] rs910222 1 17461078 [A/G] rs877648 1 17462261 [A/G] JHU_1.17463127 1 17463128 [A/C] rs12408879 1 17468135 [T/G] rs6676100 1 17469233 [A/G] rs12407829 1 17470344 [A/G] rs75688519 1 17472116 [T/C] rs6586504 1 17474127 [T/G] rs2746532 1 17475461 [A/C] JHU_1.17476089 1 17476090 [T/C] JHU_1.17476092 1 17476093 [T/C] rs12085482 1 17476831 [A/G] JHU_1.17480533 1 17480534 [T/C] rs4620585 1 17486722 [T/C] rs2454163 1 17487951 [T/C] JHU_1.17488433 1 17488434 [A/G] rs79617326 1 17490496 [T/G] JHU_1.17490845 1 17490846 [A/C] JHU_1.17492111 1 17492112 [T/A] JHU_1.17492146 1 17492147 [A/G] rs72909862 1 17494187 [A/G] rs77066748 1 17494572 [T/C] rs12059662 1 17494586 [T/C] JHU_1.17494905 1 17494906 [G/C] JHU_1.17495229 1 17495230 [A/G] rs143218283 1 17495569 [T/C] JHU_1.17495736 1 17495737 [T/A] JHU_1.17496776 1 17496777 [G/C] JHU_1.17497427 1 17497428 [T/A] rs116397810 1 17499106 [A/G] rs76259064 1 17499132 [C/G] JHU_1.17500147 1 17500148 [T/C] JHU_1.17502940 1 17502941 [A/G] rs2977265 1 17503210 [A/G] rs78207518 1 17504777 [A/G] JHU_1.17510621 1 17510622 [A/G] rs2935923 1 17510703 [A/G] JHU_1.17513632 1 17513633 [T/C] JHU_1.17518291 1 17518292 [T/C] NR_148993 LOC400743 Silent rs59451932 1 17518292 [T/C] NR_148993 LOC400743 Silent rs72913675 1 17519566 [A/G] NR_148993 LOC400743 EXON Silent JHU_1.17519640 1 17519641 [T/C] NR_148993 LOC400743 EXON Silent JHU_1.17520407 1 17520408 [A/G] NR_148993 LOC400743 Silent rs59804934 1 17520408 [A/G] NR_148993 LOC400743 Silent rs74058944 1 17520489 [T/C] NR_148993 LOC400743 Silent rs3003469 1 17521274 [A/G] NR_148993 LOC400743 Silent JHU_1.17521929 1 17521930 [T/C] NR_148993 LOC400743 Silent rs41264525 1 17522139 [T/C] NR_148993 LOC400743 Silent rs74651887 1 17523039 [T/C] rs3003470 1 17523263 [A/G] JHU_1.17524123 1 17524124 [T/C] rs3003472 1 17524343 [A/G] JHU_1.17525378 1 17525379 [T/C] JHU_1.17528326 1 17528327 [G/C] JHU_1.17528800 1 17528801 [T/C] rs12079411 1 17528857 [T/C] rs2293910 1 17531582 [A/G] exm23269 1 17531750 [T/C] NM_013358 PADI1 EXON Missense_M13T exm23270 1 17531755 [A/G] NM_013358 PADI1 EXON Missense_T15A exm23273 1 17531782 [A/G] NM_013358 PADI1 EXON Missense_E24K exm23274 1 17531806 [T/G] NM_013358 PADI1 Silent rs4244377 1 17532879 [A/G] NM_013358 PADI1 Silent rs74058962 1 17532899 [A/G] NM_013358 PADI1 Silent JHU_1.17533177 1 17533178 [T/C] NM_013358 PADI1 Silent rs4384275 1 17534310 [T/C] NM_013358 PADI1 Silent JHU_1.17535398 1 17535399 [T/C] NM_013358 PADI1 Silent rs12135995 1 17535409 [A/G] NM_013358 PADI1 Silent JHU_1.17538123 1 17538124 [A/C] NM_013358 PADI1 Silent rs2977278 1 17538952 [T/C] NM_013358 PADI1 Silent rs79048050 1 17539336 [T/C] NM_013358 PADI1 Silent JHU_1.17539525 1 17539526 [T/C] NM_013358 PADI1 Silent JHU_1.17540344 1 17540345 [T/C] NM_013358 PADI1 Silent JHU_1.17541047 1 17541048 [A/G] NM_013358 PADI1 Silent rs2977283 1 17541949 [A/G] NM_013358 PADI1 Silent rs72895777 1 17542206 [T/C] NM_013358 PADI1 Silent JHU_1.17542563 1 17542564 [T/C] NM_013358 PADI1 Silent JHU_1.17542622 1 17542623 [T/C] NM_013358 PADI1 Silent rs138925537 1 17543092 [A/G] NM_013358 PADI1 Silent JHU_1.17543843 1 17543844 [A/G] NM_013358 PADI1 Silent rs3003478 1 17544907 [C/G] NM_013358 PADI1 Silent rs12401313 1 17545283 [T/C] NM_013358 PADI1 Silent JHU_1.17546589 1 17546590 [T/C] NM_013358 PADI1 Silent JHU_1.17546690 1 17546691 [T/A] NM_013358 PADI1 Silent rs12044142 1 17547379 [C/G] NM_013358 PADI1 Silent rs12042325 1 17548261 [A/G] NM_013358 PADI1 Silent JHU_1.17548526 1 17548527 [T/C] NM_013358 PADI1 Silent 1:17548831-CG-C 1 17548831 [D/I] NM_013358 PADI1 EXON 1:17548837-GT 1 17548837 [T/G] NM_013358 PADI1 EXON Nonsense_E49X exm1737436 1 17548865 [A/G] NM_013358 PADI1 EXON Missense_R58H exm23281 1 17548873 [A/G] NM_013358 PADI1 EXON Missense_E61K exm23283 1 17548892 [A/G] NM_013358 PADI1 EXON Missense_R67H exm23284 1 17548898 [T/C] NM_013358 PADI1 EXON Missense_P69L exm23287 1 17548940 [T/C] NM_013358 PADI1 EXON Missense_A83V exm23288 1 17548945 [A/G] NM_013358 PADI1 EXON Missense_K85E rs72646751 1 17549713 [T/G] NM_013358 PADI1 Silent JHU_1.17549712 1 17549713 [T/G] NM_013358 PADI1 Silent rs34961969 1 17549820 [A/T] NM_013358 PADI1 Silent rs2293912 1 17550121 [A/G] NM_013358 PADI1 EXON Synonymous_R93R 1:17550161-CT 1 17550161 [T/C] NM_013358 PADI1 EXON Missense_R107C exm23295 1 17550185 [A/G] NM_013358 PADI1 EXON Missense_V115I exm23296 1 17550187 [T/C] NM_013358 PADI1 EXON Synonymous_V115V JHU_1.17550404 1 17550405 [T/A] NM_013358 PADI1 Silent JHU_1.17550413 1 17550414 [T/C] NM_013358 PADI1 Silent rs3003482 1 17550601 [A/G] NM_013358 PADI1 Silent exm23299 1 17550889 [A/G] NM_013358 PADI1 EXON Missense_R125H exm23301 1 17550898 [A/T] NM_013358 PADI1 EXON Missense_K128M 1:17550918-GT 1 17550918 [T/G] NM_013358 PADI1 EXON Missense_D135Y rs16823950 1 17551943 [A/C] NM_013358 PADI1 Silent 1:17552375-AG 1 17552375 [A/G] NM_013358 PADI1 EXON Missense_R160G exm23307 1 17552548 [A/G] NM_013358 PADI1 EXON Missense_M183V 1:17552560-TG 1 17552560 [T/G] NM_013358 PADI1 EXON Missense_C187G exm23310 1 17552573 [A/G] NM_013358 PADI1 EXON Missense_D191G 1:17552592-CA 1 17552592 [A/C] NM_013358 PADI1 EXON Missense_H197Q variant.1222 1 17552653 [A/G] NM_013358 PADI1 EXON Missense_G218S JHU_1.17554073 1 17554074 [A/T] NM_013358 PADI1 Silent exm23318 1 17555185 [T/C] NM_013358 PADI1 EXON Nonsense_R240X 1:17555239-GA 1 17555239 [A/G] NM_013358 PADI1 EXON Missense_D258N 1:17555452-GA 1 17555452 [A/G] NM_013358 PADI1 EXON Missense_E279K exm23331 1 17555490 [T/G] NM_013358 PADI1 EXON Missense_M291I exm23333 1 17555494 [T/C] NM_013358 PADI1 EXON Missense_P293S 1:17555544-CA 1 17555544 [A/C] NM_013358 PADI1 EXON Nonsense_C309X 1:17555547-GA 1 17555547 [A/G] NM_013358 PADI1 Silent JHU_1.17556178 1 17556179 [A/G] NM_013358 PADI1 Silent indel.1226 1 17556659 [D/I] NM_013358 PADI1 EXON rs3003406 1 17557133 [A/C] NM_013358 PADI1 EXON Synonymous_R374R rs2977235 1 17557178 [T/C] NM_013358 PADI1 Silent rs4268393 1 17559196 [T/C] NM_013358 PADI1 Silent exm23364 1 17559399 [T/C] NM_013358 PADI1 EXON Missense_P416L 1:17559420-CT 1 17559420 [T/C] NM_013358 PADI1 EXON Missense_T423M exm1737488 1 17559438 [A/G] NM_013358 PADI1 EXON Missense_R429Q rs3750297 1 17559676 [A/G] NM_013358 PADI1 Silent rs77618840 1 17560112 [A/T] NM_013358 PADI1 Silent rs76224925 1 17560832 [A/G] NM_013358 PADI1 Silent rs11203339 1 17560972 [T/C] NM_013358 PADI1 Silent JHU_1.17561943 1 17561944 [A/G] NM_013358 PADI1 Silent JHU_1.17563339 1 17563340 [A/G] NM_013358 PADI1 Silent exm23382 1 17565117 [T/C] NM_013358 PADI1 EXON Missense_R489W 1:17565138-AC 1 17565138 [A/C] NM_013358 PADI1 EXON Missense_S496R 1:17565186-GA 1 17565186 [A/G] NM_013358 PADI1 EXON Missense_E512K rs117862480 1 17565468 [T/C] NM_013358 PADI1 Silent rs150010836 1 17565808 [C/G] NM_013358 PADI1 Silent exm1737507 1 17566200 [T/G] NM_013358 PADI1 EXON Synonymous_G518G exm23395 1 17567149 [A/G] NM_013358 PADI1 EXON Missense_R551H 1:17567233-CT 1 17567233 [T/C] NM_013358 PADI1 EXON Missense_A579V exm23399 1 17567256 [T/G] NM_013358 PADI1 Silent rs77308892 1 17568764 [T/C] NM_013358 PADI1 Silent rs76490244 1 17569247 [C/G] NM_013358 PADI1 Silent 1:17570571-CT 1 17570571 [T/C] NM_013358 PADI1 EXON Missense_R609C 1:17570691-GA 1 17570691 [A/G] NM_013358 PADI1 EXON Missense_V649M rs2977225 1 17573439 [T/C] JHU_1.17574348 1 17574349 [A/C] 1:17575637-CT 1 17575637 [T/C] NM_016233 PADI3 EXON Missense_S2L exm23418 1 17575699 [A/G] NM_016233 PADI3 EXON Missense_V23M 1:17575706-CA 1 17575706 [A/C] NM_016233 PADI3 EXON Missense_T25N rs146036980 1 17576048 [T/C] NM_016233 PADI3 Silent rs2977227 1 17576328 [T/C] NM_016233 PADI3 Silent rs2977228 1 17576499 [T/C] NM_016233 PADI3 Silent 1:17578419-C-T 1 17578419 [T/C] NM_016233 PADI3 Silent rs11203343 1 17579391 [T/C] NM_016233 PADI3 Silent JHU_1.17579487 1 17579488 [A/G] NM_016233 PADI3 Silent rs112280142 1 17579507 [T/C] NM_016233 PADI3 Silent rs61056441 1 17579538 [A/G] NM_016233 PADI3 Silent JHU_1.17581210 1 17581211 [A/C] NM_016233 PADI3 Silent rs111757981 1 17584225 [T/A] NM_016233 PADI3 Silent exm23424 1 17586122 [A/G] NM_016233 PADI3 EXON Missense_V48M exm23425 1 17586134 [A/G] NM_016233 PADI3 EXON Missense_I52V rs3750300 1 17586134 [A/G] NM_016233 PADI3 EXON Missense_I52V exm23427 1 17586159 [A/G] NM_016233 PADI3 EXON Missense_R60Q exm1737539 1 17586164 [T/C] NM_016233 PADI3 EXON Missense_R62C exm1737541 1 17586179 [T/C] NM_016233 PADI3 EXON Missense_R67W rs4363467 1 17586653 [T/C] NM_016233 PADI3 Silent exm23438 1 17588689 [T/A] NM_016233 PADI3 EXON Missense_L112H rs3003429 1 17591679 [T/C] NM_016233 PADI3 Silent rs138813013 1 17592012 [A/G] NM_016233 PADI3 Silent rs72646775 1 17592121 [T/C] NM_016233 PADI3 Silent exm23442 1 17592187 [A/G] NM_016233 PADI3 EXON Missense_G127E exm23443 1 17593214 [A/C] NM_016233 PADI3 EXON Synonymous_R137R exm23444 1 17593215 [A/G] NM_016233 PADI3 EXON Missense_R137Q exm23446 1 17593232 [T/C] NM_016233 PADI3 EXON Missense_P143S 1:17593271-CT 1 17593271 [T/C] NM_016233 PADI3 EXON Missense_R156C 1:17593292-GA 1 17593292 [A/G] NM_016233 PADI3 EXON Missense_V163I 1:17593309-CA 1 17593309 [A/C] NM_016233 PADI3 EXON Missense_D168E exm23449 1 17593310 [T/C] NM_016233 PADI3 EXON Nonsense_Q169X exm23450 1 17593316 [A/G] NM_016233 PADI3 EXON Missense_V171M 1:17594362-GA 1 17594362 [A/G] NM_016233 PADI3 EXON Missense_R186Q exm23453 1 17594365 [T/C] NM_016233 PADI3 EXON Missense_T187M 1:17594398-AG 1 17594398 [A/G] NM_016233 PADI3 EXON Missense_K198R exm23455 1 17594433 [T/C] NM_016233 PADI3 EXON Missense_R210W exm23458 1 17594456 [T/C] NM_016233 PADI3 EXON Synonymous_C217C rs10888012 1 17595811 [T/C] NM_016233 PADI3 Silent exm1737592 1 17596797 [A/G] NM_016233 PADI3 EXON Missense_R241H exm23462 1 17596809 [A/G] NM_016233 PADI3 EXON Missense_D245G exm23463 1 17596817 [T/C] NM_016233 PADI3 EXON Missense_R248C exm23464 1 17596818 [A/G] NM_016233 PADI3 EXON Missense_R248H 1:17596878-AG 1 17596878 [A/G] NM_016233 PADI3 EXON Missense_H268R rs150911438 1 17596939 [T/C] NM_016233 PADI3 Silent 1:17597381-CT 1 17597381 [T/C] NM_016233 PADI3 EXON Missense_S280L 1:17597579-GA 1 17597579 [A/G] NM_016233 PADI3 EXON Missense_C318Y 1:17597633-TC 1 17597633 [T/C] NM_016233 PADI3 EXON Missense_I336T exm2250291 1 17597646 [T/C] NM_016233 PADI3 EXON Synonymous_A340A 1:17597662-CT 1 17597662 [T/C] NM_016233 PADI3 EXON Missense_R346C JHU_1.17598568 1 17598569 [A/C] NM_016233 PADI3 Silent JHU_1.17598967 1 17598968 [A/C] NM_016233 PADI3 Silent rs74705609 1 17599467 [T/C] NM_016233 PADI3 Silent JHU_1.17599593 1 17599594 [T/C] NM_016233 PADI3 Silent 1:17599856-GA 1 17599856 [A/G] NM_016233 PADI3 EXON Missense_V357I exm1737603 1 17599881 [T/C] NM_016233 PADI3 EXON Missense_P365L 1:17599926-CT 1 17599926 [T/C] NM_016233 PADI3 EXON Missense_P380L 1:17599930-CA 1 17599930 [A/C] NM_016233 PADI3 EXON Nonsense_Y381X rs12037653 1 17600317 [T/C] NM_016233 PADI3 Silent rs2977295 1 17600437 [A/C] NM_016233 PADI3 Silent exm23503 1 17601154 [T/C] NM_016233 PADI3 EXON Missense_R394W exm23506 1 17601163 [T/C] NM_016233 PADI3 EXON Missense_R397C rs11585357 1 17601165 [T/C] NM_016233 PADI3 EXON Synonymous_R397R exm23512 1 17601266 [A/G] NM_016233 PADI3 EXON Missense_G431E rs139893300 1 17601432 [A/G] NM_016233 PADI3 Silent JHU_1.17602172 1 17602173 [T/A] NM_016233 PADI3 Silent rs3003434 1 17602191 [A/G] NM_016233 PADI3 Silent JHU_1.17602324 1 17602325 [A/C] NM_016233 PADI3 Silent exm23518 1 17603075 [T/C] NM_016233 PADI3 EXON Missense_P457S rs79459531 1 17605062 [T/G] NM_016233 PADI3 Silent indel.1242 1 17606923 [D/I] NM_016233 PADI3 EXON newrs148561129 1 17606926 [T/C] NM_016233 PADI3 Silent var_1_17606929 1 17606929 [A/G] NM_016233 PADI3 Silent exm23541 1 17607272 [T/C] NM_016233 PADI3 EXON Missense_T581M exm23542 1 17607274 [A/G] NM_016233 PADI3 EXON Missense_A582T exm23544 1 17607292 [A/G] NM_016233 PADI3 Silent newrs139540548 1 17607292 [A/G] NM_016233 PADI3 Silent rs3766301 1 17608545 [G/C] NM_016233 PADI3 Silent exm23547 1 17609392 [A/C] NM_016233 PADI3 EXON Missense_P605T exm23548 1 17609422 [A/G] NM_016233 PADI3 EXON Missense_E615K exm23550 1 17609431 [T/C] NM_016233 PADI3 EXON Missense_R618W exm23556 1 17609491 [T/C] NM_016233 PADI3 EXON Missense_H638Y 1:17609512-CT 1 17609512 [T/C] NM_016233 PADI3 EXON Missense_H645Y exm23558 1 17609549 [T/C] NM_016233 PADI3 EXON Missense_F657S exm23560 1 17609560 [A/C] NM_016233 PADI3 EXON Missense_N661H rs59877223 1 17610156 [T/C] NM_016233 PADI3 EXON Silent JHU_1.17611045 1 17611046 [T/C] rs114195833 1 17615542 [T/C] JHU_1.17621279 1 17621280 [A/C] JHU_1.17622126 1 17622127 [A/G] rs142315069 1 17622127 [A/G] rs7548900 1 17622654 [A/C] JHU_1.17623429 1 17623430 [A/G] rs7411021 1 17624839 [T/C] JHU_1.17624923 1 17624924 [T/C] rs2477142 1 17629004 [T/C] JHU_1.17630192 1 17630193 [A/G] rs146509337 1 17631873 [A/G] rs2501796 1 17633522 [A/G] exm23564 1 17634718 [A/G] NM_012387 PADI4 EXON Missense_M1V exm23565 1 17634740 [A/G] NM_012387 PADI4 EXON Missense_R8H 1:17634769-GA 1 17634769 [A/G] NM_012387 PADI4 EXON Missense_V18M rs2477131 1 17636321 [A/G] NM_012387 PADI4 Silent JHU_1.17637044 1 17637045 [A/G] NM_012387 PADI4 Silent JHU_1.17641599 1 17641600 [T/C] NM_012387 PADI4 Silent rs141784008 1 17641600 [T/C] NM_012387 PADI4 Silent JHU_1.17645033 1 17645034 [T/C] NM_012387 PADI4 Silent JHU_1.17645043 1 17645044 [A/G] NM_012387 PADI4 Silent JHU_1.17646146 1 17646147 [T/C] NM_012387 PADI4 Silent rs2147333 1 17646526 [T/C] NM_012387 PADI4 Silent rs146789042 1 17647027 [G/C] NM_012387 PADI4 Silent JHU_1.17648988 1 17648989 [A/C] NM_012387 PADI4 Silent JHU_1.17649404 1 17649405 [T/C] NM_012387 PADI4 Silent rs74058719 1 17649405 [T/C] NM_012387 PADI4 Silent rs13375202 1 17651637 [A/G] NM_012387 PADI4 Silent rs59499689 1 17654346 [T/C] NM_012387 PADI4 Silent rs1748041 1 17655407 [T/C] NM_012387 PADI4 Silent exm23574 1 17657534 [A/G] NM_012387 PADI4 EXON Missense_G55S exm23578 1 17657616 [T/C] NM_012387 PADI4 EXON Missense_V82A exm23581 1 17657636 [A/G] NM_012387 PADI4 EXON Missense_D89N exm23584 1 17660463 [A/G] NM_012387 PADI4 EXON Missense_K100R exm23585 1 17660468 [A/C] NM_012387 PADI4 EXON Missense_P102T exm23586 1 17660474 [A/G] NM_012387 PADI4 EXON Missense_V104I exm23589 1 17660499 [G/C] NM_012387 PADI4 EXON Missense_G112A rs874881 1 17660499 [G/C] NM_012387 PADI4 EXON Missense_G112A rs2240340 1 17662639 [T/C] NM_012387 PADI4 Silent rs1748033 1 17662662 [T/C] NM_012387 PADI4 EXON Synonymous_L117L exm23601 1 17662705 [C/G] NM_012387 PADI4 EXON Missense_R131T 1:17662723-GT-G 1 17662723 [I/D] NM_012387 PADI4 exm23611 1 17664615 [T/C] NM_012387 PADI4 EXON Missense_M164T exm23612 1 17664616 [A/G] NM_012387 PADI4 EXON Missense_M164I exm23613 1 17664622 [T/C] NM_012387 PADI4 EXON Synonymous_C166C exm2250297 1 17664622 [T/C] NM_012387 PADI4 EXON Synonymous_C166C exm23616 1 17666198 [T/C] NM_012387 PADI4 EXON Missense_S181L exm23618 1 17666222 [A/C] NM_012387 PADI4 EXON Missense_T189N rs147414271 1 17666263 [A/G] NM_012387 PADI4 EXON Missense_V203M exm23620 1 17666263 [A/G] NM_012387 PADI4 EXON Missense_V203M exm23621 1 17666309 [A/G] NM_012387 PADI4 Silent rs145994637 1 17666309 [A/G] NM_012387 PADI4 Silent exm23629 1 17668509 [A/G] NM_012387 PADI4 EXON Missense_G242S exm23635 1 17668563 [A/G] NM_012387 PADI4 EXON Missense_D260N exm23638 1 17668609 [T/C] NM_012387 PADI4 EXON Missense_S275F exm23644 1 17668827 [A/G] NM_012387 PADI4 EXON Missense_V289M rs199545354 1 17668839 [A/G] NM_012387 PADI4 EXON Missense_V293M exm23646 1 17668840 [T/C] NM_012387 PADI4 EXON Missense_V293A rs143723973 1 17672401 [A/G] NM_012387 PADI4 Silent chr1_17672558 1 17672558 [A/C] NM_012387 PADI4 EXON Missense_T324N rs145819522 1 17672566 [C/G] NM_012387 PADI4 EXON Missense_A327P exm23651 1 17672566 [C/G] NM_012387 PADI4 EXON Missense_A327P 1:17672587-CA 1 17672587 [A/C] NM_012387 PADI4 EXON Missense_L334M rs2240339 1 17674108 [T/C] NM_012387 PADI4 Silent rs6686575 1 17674366 [T/C] NM_012387 PADI4 Silent 1:17674451-GA 1 17674451 [A/G] NM_012387 PADI4 EXON Missense_G355S exm-rs2240335 1 17674537 [A/C] NM_012387 PADI4 EXON Synonymous_R383R rs2240335 1 17674537 [A/C] NM_012387 PADI4 EXON Synonymous_R383R 1:17674557-GA 1 17674557 [A/G] NM_012387 PADI4 Silent 1:17674601-CT 1 17674601 [T/C] NM_012387 PADI4 Silent JHU_1.17674846 1 17674847 [T/C] NM_012387 PADI4 Silent JHU_1.17678165 1 17678166 [T/C] NM_012387 PADI4 Silent JHU_1.17679087 1 17679088 [A/G] NM_012387 PADI4 Silent rs74629420 1 17679511 [T/G] NM_012387 PADI4 Silent JHU_1.17680745 1 17680746 [A/G] NM_012387 PADI4 Silent JHU_1.17680806 1 17680807 [T/C] NM_012387 PADI4 Silent exm23666 1 17681053 [A/G] NM_012387 PADI4 EXON Missense_R394Q 1:17681092-TC 1 17681092 [T/C] NM_012387 PADI4 EXON Missense_F407S rs141582072 1 17681108 [C/G] NM_012387 PADI4 EXON Synonymous_V412V exm23677 1 17681143 [T/C] NM_012387 PADI4 EXON Missense_P424L rs79100767 1 17681339 [T/C] NM_012387 PADI4 Silent rs1748012 1 17682100 [T/C] NM_012387 PADI4 Silent exm23680 1 17682519 [T/G] NM_012387 PADI4 EXON Missense_L451R rs200193047 1 17682572 [A/G] NM_012387 PADI4 EXON Missense_V469M exm23682 1 17682572 [A/G] NM_012387 PADI4 EXON Missense_V469M 1:17682605-CT 1 17682605 [T/C] NM_012387 PADI4 EXON Missense_P480S exm23686 1 17682906 [T/C] NM_012387 PADI4 EXON Nonsense_Q504X rs4920601 1 17683326 [T/C] NM_012387 PADI4 Silent rs1635564 1 17683526 [T/G] NM_012387 PADI4 Silent indel.1256 1 17685328 [D/I] NM_012387 PADI4 1:17685809-GA 1 17685809 [A/G] NM_012387 PADI4 EXON Missense_R555Q exm23694 1 17685905 [T/C] NM_012387 PADI4 Silent rs74058734 1 17685972 [C/G] NM_012387 PADI4 Silent rs1635561 1 17687027 [T/C] NM_012387 PADI4 Silent 1:17690090-GA 1 17690090 [A/G] NM_012387 PADI4 EXON Missense_C611Y rs192286295 1 17690152 [A/G] NM_012387 PADI4 EXON Missense_D632N exm23705 1 17690206 [A/C] NM_012387 PADI4 EXON Missense_R650S rs147723249 1 17690206 [A/C] NM_012387 PADI4 EXON Missense_R650S JHU_1.17693975 1 17693976 [A/T] rs1204890 1 17694701 [T/G] rs12732819 1 17695153 [T/C] rs1204883 1 17696338 [A/G] rs56085210 1 17696553 [T/C] JHU_1.17696623 1 17696624 [A/G] JHU_1.17696851 1 17696852 [C/G] rs1204880 1 17697057 [T/C] exm23709 1 17698750 [A/G] NM_207421 PADI6 EXON Missense_V4M 1:17698793-CA 1 17698793 [A/C] NM_207421 PADI6 EXON Missense_S18Y exm23715 1 17698855 [A/G] NM_207421 PADI6 EXON Missense_G39R JHU_1.17699370 1 17699371 [A/G] NM_207421 PADI6 Silent exm23721 1 17699676 [T/C] NM_207421 PADI6 EXON Missense_T81M exm23724 1 17699720 [A/G] NM_207421 PADI6 EXON Missense_A96T JHU_1.17702479 1 17702480 [T/C] NM_207421 PADI6 Silent rs78314090 1 17702480 [T/C] NM_207421 PADI6 Silent rs12563231 1 17703861 [T/C] NM_207421 PADI6 Silent rs140232851 1 17704794 [T/C] NM_207421 PADI6 Silent exm23728 1 17706442 [A/G] NM_207421 PADI6 EXON Missense_R132H JHU_1.17708064 1 17708065 [T/C] NM_207421 PADI6 Silent JHU_1.17708352 1 17708353 [A/G] NM_207421 PADI6 Silent exm23733 1 17708460 [T/A] NM_207421 PADI6 Silent 1:17708528-GA 1 17708528 [A/G] NM_207421 PADI6 EXON Missense_R207Q rs117308807 1 17709653 [A/G] NM_207421 PADI6 Silent JHU_1.17711770 1 17711771 [T/C] NM_207421 PADI6 Silent rs6696295 1 17714864 [T/C] NM_207421 PADI6 Silent 1:17714883-CA 1 17714883 [A/C] NM_207421 PADI6 EXON Missense_N229K ilmnseq_rs368705075.2_F2BT 1 17714923 [C/G] NM_207421 PADI6 EXON Missense_A243P exm23745 1 17714971 [A/G] NM_207421 PADI6 EXON Missense_V259I exm23747 1 17715015 [C/G] NM_207421 PADI6 EXON Missense_I273M rs2526842 1 17715081 [T/C] NM_207421 PADI6 Silent rs141844235 1 17716226 [C/G] NM_207421 PADI6 Silent rs10458538 1 17719061 [A/G] NM_207421 PADI6 Silent rs6695214 1 17719843 [T/C] NM_207421 PADI6 Silent exm23765 1 17720515 [A/G] NM_207421 PADI6 EXON Synonymous_T373T exm23766 1 17720542 [T/C] NM_207421 PADI6 EXON Synonymous_A382A exm23767 1 17720545 [T/C] NM_207421 PADI6 EXON Synonymous_A383A 1:17720546-GA 1 17720546 [A/G] NM_207421 PADI6 EXON Missense_D384N exm23775 1 17721447 [T/C] NM_207421 PADI6 EXON Synonymous_S446S exm23776 1 17721453 [C/G] NM_207421 PADI6 EXON Missense_E448D 1:17722085-GA 1 17722085 [A/G] NM_207421 PADI6 EXON Missense_R515Q exm23787 1 17722113 [T/C] NM_207421 PADI6 EXON Synonymous_D524D exm-rs7538876 1 17722363 [A/G] NM_207421 PADI6 Silent rs7538876 1 17722363 [A/G] NM_207421 PADI6 Silent rs142642869 1 17723586 [T/C] NM_207421 PADI6 EXON Synonymous_I546I exm23790 1 17723586 [T/C] NM_207421 PADI6 EXON Synonymous_I546I exm23791 1 17723587 [A/G] NM_207421 PADI6 EXON Missense_D547N rs12033821 1 17724445 [A/G] NM_207421 PADI6 Silent JHU_1.17725357 1 17725358 [C/G] NM_207421 PADI6 Silent rs144373760 1 17727057 [T/C] NM_207421 PADI6 Silent 1:17727762-AG 1 17727762 [A/G] NM_207421 PADI6 EXON Missense_K638R exm23804 1 17727811 [C/G] NM_207421 PADI6 EXON Synonymous_L654L 1:17727860-GA 1 17727860 [A/G] NM_207421 PADI6 EXON Missense_V671I 1:17727890-CT 1 17727890 [T/C] NM_207421 PADI6 EXON Missense_R681C JHU_1.17729608 1 17729609 [T/C] rs75660408 1 17730522 [A/G] JHU_1.17732453 1 17732454 [T/C] JHU_1.17737439 1 17737440 [G/C] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent rs55767926 1 17737440 [G/C] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent rs3764766 1 17740019 [G/C] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent 1:17740062-TC 1 17740062 [T/C] NM_018715,NM_001136204 RCC2,RCC2 EXON Missense_Y393C,Missense_Y393C 1:17743137-TTG-T 1 17743137 [D/I] NM_018715,NM_001136204 RCC2,RCC2 EXON JHU_1.17744535 1 17744536 [A/G] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent JHU_1.17748187 1 17748188 [A/G] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent exm23845 1 17748785 [T/C] NM_018715,NM_001136204 RCC2,RCC2 EXON Missense_T220A,Missense_T220A rs41266035 1 17748885 [T/C] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent 1:17749233-GA 1 17749233 [A/G] NM_018715,NM_001136204 RCC2,RCC2 EXON Missense_A208V,Missense_A208V rs12728891 1 17750263 [G/C] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent rs143509633 1 17751666 [A/G] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent 1:17752171-CT 1 17752171 [T/C] NM_018715,NM_001136204 RCC2,RCC2 EXON Missense_R130H,Missense_R130H rs6688886 1 17753639 [A/G] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent 1:17754767-A-C 1 17754767 [A/C] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent JHU_1.17758048 1 17758049 [A/G] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent rs78045454 1 17758660 [T/C] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent rs2800686 1 17763312 [A/G] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent exm23860 1 17764763 [A/G] NM_018715,NM_001136204 RCC2,RCC2 EXON Missense_V83A,Missense_V83A JHU_1.17768699 1 17768700 [A/T] rs2883272 1 17773159 [A/G] rs74512042 1 17775792 [A/G] rs2526822 1 17778571 [T/G] JHU_1.17783701 1 17783702 [T/G] JHU_1.17783766 1 17783767 [A/G] rs113343434 1 17787315 [T/C] rs369523803 1 17789937 [T/C] rs72909675 1 17790283 [A/C] rs12078935 1 17791882 [T/C] JHU_1.17792228 1 17792229 [T/C] rs4920609 1 17794205 [A/C] rs4284283 1 17796711 [A/G] JHU_1.17798772 1 17798773 [T/C] rs6659366 1 17800419 [A/G] rs147190895 1 17805536 [A/G] rs143402290 1 17807373 [T/C] rs117555681 1 17810351 [A/G] rs11203410 1 17815801 [A/G] rs6586554 1 17820550 [T/C] rs6689677 1 17820742 [A/C] rs11203414 1 17829956 [T/C] rs2985872 1 17833145 [T/C] JHU_1.17833410 1 17833411 [T/C] rs2254135 1 17834742 [T/C] rs75245381 1 17838397 [A/C] JHU_1.17839857 1 17839858 [A/G] rs114999606 1 17843257 [A/G] rs79264277 1 17843374 [T/C] JHU_1.17845336 1 17845337 [A/G] rs117838159 1 17846093 [T/C] rs2244444 1 17846922 [T/C] JHU_1.17849252 1 17849253 [T/G] rs2247877 1 17853599 [A/C] JHU_1.17867004 1 17867005 [C/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs2265731 1 17871605 [T/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs4920374 1 17872028 [A/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent exm2268868 1 17874843 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent JHU_1.17876089 1 17876090 [A/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs142375599 1 17876848 [A/T] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs3850724 1 17878011 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs1408953 1 17878619 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs2243576 1 17878782 [T/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs74697669 1 17879646 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs12045305 1 17884518 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs79647827 1 17886684 [A/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent JHU_1.17890431 1 17890432 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs2256787 1 17892816 [A/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs2257032 1 17894913 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent JHU_1.17896269 1 17896270 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent JHU_1.17896838 1 17896839 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent JHU_1.17897929 1 17897930 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs12049589 1 17899151 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent JHU_1.17900387 1 17900388 [A/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs4920376 1 17900805 [A/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs72648420 1 17904933 [A/G] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent rs4920617 1 17905163 [T/C] NM_018125,NR_137287,NR_137288 ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent JHU_1.17907467 1 17907468 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs117411279 1 17907468 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs11203423 1 17907505 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs11203425 1 17908005 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17908649 1 17908650 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs34984825 1 17908963 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17909283 1 17909284 [G/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs75765840 1 17910322 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17911373 1 17911374 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs1193346 1 17913509 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent exm23884 1 17913964 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_L16P,Silent,Silent,Missense_L16P,Missense_L16P 1:17914045-AG 1 17914045 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_E43G,Silent,Silent,Missense_E43G,Missense_E43G exm23891 1 17914057 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_S47N,Silent,Silent,Missense_S47N,Missense_S47N exm23900 1 17914122 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_D69N,Silent,Silent,Missense_D69N,Missense_D69N JHU_1.17914599 1 17914600 [C/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs12404333 1 17915833 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs4920379 1 17916382 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs10788679 1 17916962 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17919206 1 17919207 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17919235 1 17919236 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17919586 1 17919587 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17919816 1 17919817 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17920146 1 17920147 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs74059336 1 17922259 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17923517 1 17923518 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs74059339 1 17925010 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17925527 1 17925528 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17927569 1 17927570 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs41268759 1 17928528 [T/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent 1:17928626-CT 1 17928626 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_P88S,Silent,Silent,Missense_P88S,Missense_P88S 1:17928654-CA 1 17928654 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_A97E,Silent,Silent,Missense_A97E,Missense_A97E exm23903 1 17928659 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_A99T,Silent,Silent,Missense_A99T,Missense_A99T 1:17928671-GA 1 17928671 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_G103R,Silent,Silent,Missense_G103R,Missense_G103R exm23905 1 17928672 [C/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_G103A,Silent,Silent,Missense_G103A,Missense_G103A 1:17928677-CT 1 17928677 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_R105W,Silent,Silent,Missense_R105W,Missense_R105W exm23907 1 17928680 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_H106N,Silent,Silent,Missense_H106N,Missense_H106N 1:17928695-CT 1 17928695 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_R111W,Silent,Silent,Missense_R111W,Missense_R111W 1:17928710-CT 1 17928710 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_R116C,Silent,Silent,Missense_R116C,Missense_R116C 1:17930078-AG 1 17930078 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_H142R,Silent,Silent,Missense_H142R,Missense_H142R rs11583246 1 17930799 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent 1:17934434-GT 1 17934434 [T/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_V191F,Silent,Silent,Missense_V191F,Missense_V191F exm23931 1 17934437 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_E192K,Silent,Silent,Missense_E192K,Missense_E192K 1:17934452-CT 1 17934452 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Nonsense_R197X,Silent,Silent,Nonsense_R197X,Nonsense_R197X rs145018500 1 17936642 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs34264132 1 17939373 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent exm2275427 1 17939626 [C/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_G228A,Silent,Silent,Silent,Silent 1:17939629-GA 1 17939629 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_G229E,Silent,Silent,Silent,Silent rs80223599 1 17940361 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent JHU_1.17941103 1 17941104 [C/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent exm23940 1 17942591 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_M243I,Silent,Silent,Missense_M204I,Missense_M204I JHU_1.17943025 1 17943026 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent rs76880326 1 17945755 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.17946097 1 17946098 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10218654 1 17947487 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent exm23951 1 17948389 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_V325M,Silent,Silent,Missense_V286M,Missense_V286M,Missense_V103M,Missense_V103M 1:17948410-GA 1 17948410 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_V332M,Silent,Silent,Missense_V293M,Missense_V293M,Missense_V110M,Missense_V110M exm23958 1 17949509 [T/A] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_M347L,Silent,Silent,Missense_M308L,Missense_M308L,Missense_M125L,Missense_M125L exm23959 1 17949537 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_A356V,Silent,Silent,Missense_A317V,Missense_A317V,Missense_A134V,Missense_A134V exm2250329 1 17949619 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_R383R,Silent,Silent,Synonymous_R344R,Synonymous_R344R,Synonymous_R161R,Synonymous_R161R 1:17949669-CT 1 17949669 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_S400L,Silent,Silent,Missense_S361L,Missense_S361L,Missense_S178L,Missense_S178L variant.1269 1 17949670 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_S400S,Silent,Silent,Synonymous_S361S,Synonymous_S361S,Synonymous_S178S,Synonymous_S178S rs725021 1 17952531 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_I466I,Silent,Silent,Synonymous_I427I,Synonymous_I427I,Synonymous_I244I,Silent exm23987 1 17953972 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_V520I,Silent,Silent,Missense_V481I,Missense_V481I,Missense_V298I,Missense_V228I chr1_17953981 1 17953981 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_R523C,Silent,Silent,Missense_R484C,Missense_R484C,Missense_R301C,Missense_R231C rs77956408 1 17956433 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74059380 1 17956446 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12562076 1 17958240 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:17958945-GA 1 17958945 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_A572T,Silent,Silent,Missense_A533T,Missense_A533T,Missense_A350T,Missense_A280T JHU_1.17961344 1 17961345 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_I587I,Silent,Silent,Synonymous_I543I,Synonymous_I548I,Synonymous_I365I,Synonymous_I290I exm23998 1 17961392 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_T603M,Silent,Silent,Missense_T559M,Missense_T564M,Missense_T381M,Missense_T306M exm24001 1 17961432 [C/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_D616E,Silent,Silent,Missense_D572E,Missense_D577E,Missense_D394E,Missense_D319E rs149874779 1 17962582 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3753378 1 17963016 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:17964406-CT 1 17964406 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_R651C,Silent,Silent,Missense_R607C,Missense_R612C,Missense_R429C,Missense_R354C 1:17964448-GA 1 17964448 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_V665M,Silent,Silent,Missense_V621M,Missense_V626M,Missense_V443M,Missense_V368M rs16829867 1 17964474 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_I673I,Silent,Silent,Synonymous_I629I,Synonymous_I634I,Synonymous_I451I,Synonymous_I376I rs35596878 1 17965630 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76339850 1 17966060 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6665682 1 17968988 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs138011453 1 17969924 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs192895606 1 17971164 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.17971818 1 17971819 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3766307 1 17972321 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3766308 1 17972395 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:17975126-GA 1 17975126 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_A784T,Silent,Silent,Missense_A740T,Missense_A745T,Missense_A562T,Missense_A487T exm24026 1 17975148 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_S791F,Silent,Silent,Missense_S747F,Missense_S752F,Missense_S569F,Missense_S494F rs146999342 1 17976466 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6703771 1 17976560 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77072467 1 17979675 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.17981978 1 17981979 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:17982406-GT 1 17982406 [T/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_Q838H,Silent,Silent,Missense_Q794H,Missense_Q799H,Missense_Q616H,Missense_Q541H exm24035 1 17982446 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_V852I,Silent,Silent,Missense_V808I,Missense_V813I,Missense_V630I,Missense_V555I 1:17982542-GT 1 17982542 [T/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_A884S,Silent,Silent,Missense_A840S,Missense_A845S,Missense_A662S,Missense_A587S 1:17982566-CA 1 17982566 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_P892T,Silent,Silent,Missense_P848T,Missense_P853T,Missense_P670T,Missense_P595T 1:17991005-GA 1 17991005 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_R975H,Silent,Silent,Missense_R931H,Missense_R936H,Missense_R753H,Missense_R678H exm24063 1 17991052 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_W991R,Silent,Silent,Missense_W947R,Missense_W952R,Missense_W769R,Missense_W694R rs35493100 1 17993120 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs146330533 1 17996466 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.17999441 1 17999442 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs78936805 1 18000283 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6657353 1 18000627 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72648451 1 18001750 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.18002115 1 18002116 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12742948 1 18006550 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.18006765 1 18006766 [C/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.18012600 1 18012601 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:18013074-C-T 1 18013074 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2250331 1 18014076 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_F1006F,Silent,Silent,Synonymous_F962F,Synonymous_F967F,Synonymous_F784F,Synonymous_F709F exm24075 1 18014153 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_S1032F,Silent,Silent,Missense_S988F,Missense_S993F,Missense_S810F,Missense_S735F exm24079 1 18014241 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_P1061P,Silent,Silent,Synonymous_P1017P,Synonymous_P1022P,Synonymous_P839P,Synonymous_P764P JHU_1.18015952 1 18015953 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.18016783 1 18016784 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs146656238 1 18018220 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent exm24081 1 18021668 [T/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_C1067F,Silent,Silent,Missense_C1023F,Missense_C1028F,Missense_C845F,Missense_C770F 1:18021730-GA 1 18021730 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_V1088I,Silent,Silent,Missense_V1044I,Missense_V1049I,Missense_V866I,Missense_V791I exm24085 1 18021758 [T/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_G1097V,Silent,Silent,Missense_G1053V,Missense_G1058V,Missense_G875V,Missense_G800V rs117494169 1 18022222 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs61764942 1 18023261 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2270978 1 18023365 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Synonymous_N1110N,Silent,Silent,Synonymous_N1066N,Synonymous_N1071N,Synonymous_N888N,Synonymous_N813N exm24094 1 18023403 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_T1123I,Silent,Silent,Missense_T1079I,Missense_T1084I,Missense_T901I,Missense_T826I exm24104 1 18023556 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_Q1174R,Silent,Silent,Missense_Q1130R,Missense_Q1135R,Missense_Q952R,Missense_Q877R exm24105 1 18023562 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_R1176H,Silent,Silent,Missense_R1132H,Missense_R1137H,Missense_R954H,Missense_R879H exm24108 1 18023586 [A/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_P1184Q,Silent,Silent,Missense_P1140Q,Missense_P1145Q,Missense_P962Q,Missense_P887Q exm1739813 1 18023630 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_A1199T,Silent,Silent,Missense_A1155T,Missense_A1160T,Missense_A977T,Missense_A902T exm24116 1 18023654 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_D1207N,Silent,Silent,Missense_D1163N,Missense_D1168N,Missense_D985N,Missense_D910N rs2270976 1 18023690 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_I1219V,Silent,Silent,Missense_I1175V,Missense_I1180V,Missense_I997V,Missense_I922V exm24124 1 18023690 [A/G] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_I1219V,Silent,Silent,Missense_I1175V,Missense_I1180V,Missense_I997V,Missense_I922V exm24128 1 18023717 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_R1228C,Silent,Silent,Missense_R1184C,Missense_R1189C,Missense_R1006C,Missense_R931C 1:18023832-CT 1 18023832 [T/C] NM_018125,NR_137287,NR_137288,NM_001319837,NM_001011722,NM_001328124,NM_001319838 ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L,ARHGEF10L EXON Missense_T1266M,Silent,Silent,Missense_T1222M,Missense_T1227M,Missense_T1044M,Missense_T969M rs1316637 1 18024794 [T/G] JHU_1.18026276 1 18026277 [A/G] JHU_1.18026500 1 18026501 [G/C] rs12063085 1 18031533 [T/G] rs7522419 1 18033499 [A/G] rs10749623 1 18034007 [A/G] rs16830549 1 18034640 [A/G] rs116276551 1 18037732 [A/G] rs12117936 1 18038796 [A/G] JHU_1.18039514 1 18039515 [A/G] JHU_1.18040134 1 18040135 [T/G] JHU_1.18040959 1 18040960 [A/G] exm2268655 1 18043943 [T/C] JHU_1.18044665 1 18044666 [C/G] rs149155635 1 18045091 [A/G] JHU_1.18045235 1 18045236 [A/G] rs4920626 1 18046287 [T/G] rs75712837 1 18046535 [A/G] rs143404783 1 18046633 [T/G] JHU_1.18046650 1 18046651 [A/G] rs74060052 1 18046690 [T/C] rs72925245 1 18049855 [T/C] JHU_1.18049854 1 18049855 [T/C] JHU_1.18052465 1 18052466 [T/C] rs260514 1 18052645 [A/G] rs141615041 1 18053032 [C/G] JHU_1.18057180 1 18057181 [T/C] rs72925262 1 18059755 [A/C] rs117285283 1 18060329 [T/C] rs11584168 1 18060436 [T/C] JHU_1.18062544 1 18062545 [T/C] JHU_1.18063965 1 18063966 [A/C] rs74702858 1 18064033 [G/C] JHU_1.18064359 1 18064360 [A/G] JHU_1.18065243 1 18065244 [T/C] rs2077398 1 18065643 [T/C] rs57565457 1 18066027 [T/G] rs74060061 1 18067238 [T/C] rs7552835 1 18068437 [A/G] JHU_1.18069117 1 18069118 [T/G] JHU_1.18070194 1 18070195 [A/G] rs145857628 1 18073807 [A/G] rs146561288 1 18077685 [A/G] JHU_1.18080743 1 18080744 [C/G] JHU_1.18080746 1 18080747 [G/C] JHU_1.18080825 1 18080826 [T/C] rs143615367 1 18081253 [A/C] rs11203454 1 18081416 [A/C] JHU_1.18083751 1 18083752 [T/C] NM_030812 ACTL8 Silent JHU_1.18087829 1 18087830 [T/G] NM_030812 ACTL8 Silent JHU_1.18091063 1 18091064 [T/C] NM_030812 ACTL8 Silent JHU_1.18091070 1 18091071 [A/C] NM_030812 ACTL8 Silent rs16830724 1 18091302 [T/A] NM_030812 ACTL8 Silent JHU_1.18091335 1 18091336 [C/G] NM_030812 ACTL8 Silent rs113432009 1 18091841 [T/C] NM_030812 ACTL8 Silent rs4920381 1 18092615 [T/C] NM_030812 ACTL8 Silent rs58119921 1 18093616 [A/G] NM_030812 ACTL8 Silent rs115589536 1 18094782 [T/C] NM_030812 ACTL8 Silent rs72648477 1 18098169 [T/C] NM_030812 ACTL8 Silent rs1977251 1 18098553 [A/G] NM_030812 ACTL8 Silent rs10888060 1 18099283 [A/G] NM_030812 ACTL8 Silent JHU_1.18105164 1 18105165 [A/G] NM_030812 ACTL8 Silent rs75731660 1 18105189 [A/G] NM_030812 ACTL8 Silent JHU_1.18108659 1 18108660 [A/C] NM_030812 ACTL8 Silent rs74311679 1 18108849 [A/G] NM_030812 ACTL8 Silent rs12066922 1 18110544 [A/G] NM_030812 ACTL8 Silent rs79841694 1 18111276 [A/G] NM_030812 ACTL8 Silent rs1599970 1 18112065 [T/G] NM_030812 ACTL8 Silent rs149260076 1 18112392 [A/C] NM_030812 ACTL8 Silent rs4141983 1 18122009 [T/C] NM_030812 ACTL8 Silent JHU_1.18122793 1 18122794 [T/C] NM_030812 ACTL8 Silent rs78497510 1 18123674 [T/C] NM_030812 ACTL8 Silent exm-rs1847235 1 18123957 [A/G] NM_030812 ACTL8 Silent rs1847235 1 18123957 [A/G] NM_030812 ACTL8 Silent rs16830757 1 18124527 [T/C] NM_030812 ACTL8 Silent rs115669506 1 18125273 [T/C] NM_030812 ACTL8 Silent rs4920642 1 18128532 [T/C] NM_030812 ACTL8 Silent rs75114496 1 18128865 [T/C] NM_030812 ACTL8 Silent rs144522829 1 18129665 [A/C] NM_030812 ACTL8 Silent JHU_1.18130969 1 18130970 [T/G] NM_030812 ACTL8 Silent rs61766679 1 18132305 [A/G] NM_030812 ACTL8 Silent rs11808770 1 18135081 [A/G] NM_030812 ACTL8 Silent rs561698 1 18135882 [A/G] NM_030812 ACTL8 Silent rs533374 1 18136684 [A/G] NM_030812 ACTL8 Silent exm24147 1 18149613 [A/C] NM_030812 ACTL8 EXON Missense_P37Q exm24149 1 18149645 [T/C] NM_030812 ACTL8 EXON Missense_R48C exm24152 1 18149666 [A/G] NM_030812 ACTL8 EXON Missense_I55V exm24155 1 18149720 [G/C] NM_030812 ACTL8 EXON Missense_L73V exm24157 1 18149792 [T/C] NM_030812 ACTL8 EXON Missense_P97S rs12410884 1 18151141 [T/C] NM_030812 ACTL8 Silent 1:18152415-GA 1 18152415 [A/G] NM_030812 ACTL8 EXON Missense_A168T exm24166 1 18152424 [A/G] NM_030812 ACTL8 EXON Missense_K171E exm24174 1 18152530 [T/G] NM_030812 ACTL8 EXON Missense_V206G chr1_18152550 1 18152550 [T/C] NM_030812 ACTL8 EXON Missense_Y213H exm24180 1 18152646 [T/C] NM_030812 ACTL8 EXON Missense_R245C chr1_18152715 1 18152715 [T/C] NM_030812 ACTL8 EXON Missense_P268S 1:18152793-CT 1 18152793 [T/C] NM_030812 ACTL8 EXON Missense_H294Y exm24195 1 18152871 [A/G] NM_030812 ACTL8 EXON Missense_V320I exm1740072 1 18152977 [T/C] NM_030812 ACTL8 EXON Missense_M355T rs681507 1 18153993 [T/C] rs79161530 1 18154240 [A/G] rs7545559 1 18158156 [T/C] rs495347 1 18163922 [T/C] rs491778 1 18164285 [T/C] JHU_1.18165275 1 18165276 [T/G] JHU_1.18167155 1 18167156 [A/T] JHU_1.18167493 1 18167494 [C/G] rs647325 1 18170886 [A/G] rs58538859 1 18173000 [T/G] JHU_1.18174060 1 18174061 [A/C] JHU_1.18175191 1 18175192 [T/C] rs12038436 1 18177162 [T/C] JHU_1.18179690 1 18179691 [A/G] rs697760 1 18179816 [T/G] JHU_1.18180009 1 18180010 [T/C] rs79963534 1 18181841 [T/C] JHU_1.18182640 1 18182641 [A/C] JHU_1.18183103 1 18183104 [T/C] JHU_1.18183233 1 18183234 [T/C] JHU_1.18183579 1 18183580 [A/G] JHU_1.18184523 1 18184524 [T/C] rs116129484 1 18185183 [A/G] rs74060535 1 18185308 [T/C] rs140409515 1 18188031 [T/G] rs12405926 1 18189103 [A/G] rs114891576 1 18189536 [A/G] rs615917 1 18190225 [T/C] JHU_1.18191404 1 18191405 [A/C] rs111884366 1 18191557 [T/G] rs542963 1 18195801 [T/C] JHU_1.18196673 1 18196674 [T/C] rs11203223 1 18196800 [T/G] rs545301 1 18199803 [T/C] rs58733189 1 18200285 [A/G] rs4920391 1 18200675 [A/G] exm2268656 1 18201318 [T/C] rs562836 1 18201441 [T/C] 1:18207086-C-G 1 18207086 [C/G] rs72651118 1 18208828 [T/C] JHU_1.18209808 1 18209809 [A/G] rs12048276 1 18210585 [A/G] rs74057461 1 18210973 [T/G] JHU_1.18210972 1 18210973 [T/G] rs597865 1 18212230 [T/C] rs76790996 1 18212548 [A/G] rs579987 1 18212704 [A/G] rs185736041 1 18213288 [T/C] rs75275072 1 18214305 [T/G] rs12031406 1 18214416 [T/C] rs141380684 1 18214443 [T/C] rs675992 1 18214760 [T/C] JHU_1.18214810 1 18214811 [A/C] JHU_1.18214812 1 18214813 [A/G] rs477558 1 18219827 [A/G] rs61766729 1 18221784 [A/G] rs12033938 1 18221983 [T/C] rs12037123 1 18225521 [T/C] rs6702392 1 18230003 [T/C] rs620547 1 18231349 [T/C] JHU_1.18232724 1 18232725 [T/G] rs76562574 1 18233795 [T/G] rs12071205 1 18234374 [T/C] rs6686929 1 18244707 [T/C] rs12083022 1 18245365 [A/G] rs79010616 1 18246102 [A/G] rs12073092 1 18246140 [T/A] rs78973145 1 18246298 [T/G] JHU_1.18251705 1 18251706 [T/G] rs12407273 1 18252805 [A/C] rs147537343 1 18257220 [T/C] rs10788647 1 18259463 [A/G] JHU_1.18259920 1 18259921 [T/C] rs76157701 1 18259991 [T/C] JHU_1.18262391 1 18262392 [T/C] rs594011 1 18264738 [A/G] rs116361309 1 18267094 [A/G] rs651743 1 18268281 [A/G] rs683550 1 18270763 [C/G] rs1150903 1 18271748 [A/C] rs661977 1 18272751 [T/C] JHU_1.18273067 1 18273068 [A/C] 1:18273156-T-A 1 18273156 [A/T] JHU_1.18274920 1 18274921 [A/C] rs114029712 1 18275124 [T/C] rs72922908 1 18275316 [T/C] rs659810 1 18277480 [A/G] rs72651161 1 18278002 [T/C] JHU_1.18278502 1 18278503 [A/G] rs709362 1 18279185 [T/G] rs115884156 1 18281764 [T/A] rs76008144 1 18281955 [A/G] rs1192579 1 18283857 [T/C] JHU_1.18284170 1 18284171 [T/C] rs72651171 1 18288001 [G/C] rs794230 1 18289252 [T/C] JHU_1.18289893 1 18289894 [T/G] JHU_1.18291039 1 18291040 [C/G] rs72934242 1 18292479 [T/C] exm-rs16861326 1 18294487 [A/G] rs2095842 1 18297407 [A/G] rs1192550 1 18298961 [T/C] rs55640147 1 18301932 [T/A] rs117206835 1 18302597 [A/G] rs16861359 1 18309779 [A/C] rs1192607 1 18310576 [T/C] rs6685120 1 18311140 [A/G] rs7340046 1 18312084 [T/C] rs12726822 1 18317841 [A/G] rs140129808 1 18318298 [A/G] JHU_1.18323041 1 18323042 [A/C] rs12022529 1 18325257 [T/C] rs1192614 1 18325601 [T/C] rs12743154 1 18326099 [T/C] JHU_1.18326169 1 18326170 [A/G] rs1192616 1 18327209 [A/G] JHU_1.18328329 1 18328330 [A/G] rs1192610 1 18331242 [A/G] rs1890789 1 18331332 [A/G] JHU_1.18332663 1 18332664 [T/C] rs16861403 1 18332920 [T/C] JHU_1.18332919 1 18332920 [T/C] rs6678740 1 18335916 [A/G] rs78730619 1 18336474 [A/G] rs1192619 1 18337129 [A/T] rs75858898 1 18337345 [T/C] rs188188307 1 18338293 [A/G] JHU_1.18338299 1 18338300 [T/C] rs150155259 1 18338342 [T/G] rs17472583 1 18340025 [A/G] rs11203256 1 18340225 [T/C] rs76246363 1 18342082 [A/G] rs77443462 1 18342370 [A/G] rs794237 1 18342964 [A/G] rs75050231 1 18344494 [A/G] rs75906653 1 18349637 [T/C] rs2355459 1 18349764 [A/G] rs4539169 1 18351999 [T/C] rs2355462 1 18352458 [T/C] JHU_1.18353339 1 18353340 [A/G] rs7550969 1 18353743 [T/C] rs72653335 1 18354052 [A/G] rs78638755 1 18354498 [A/G] JHU_1.18355124 1 18355125 [A/G] JHU_1.18356091 1 18356092 [A/G] rs11801749 1 18357816 [A/G] JHU_1.18361951 1 18361952 [A/G] rs870042 1 18364893 [T/C] rs76270278 1 18366235 [T/C] rs10887986 1 18366795 [T/C] rs4920414 1 18367579 [T/C] JHU_1.18369955 1 18369956 [A/C] rs7523606 1 18370015 [T/C] JHU_1.18370206 1 18370207 [A/G] rs142999283 1 18370359 [A/G] rs12034254 1 18373009 [T/C] rs79852120 1 18373601 [T/G] 1:18049768_18049769ins 1 18376262 [I/D] JHU_1.18376486 1 18376487 [A/G] rs1031567 1 18377790 [A/G] JHU_1.18378678 1 18378679 [T/C] JHU_1.18378690 1 18378691 [T/C] rs9943227 1 18381437 [T/C] JHU_1.18381902 1 18381903 [A/G] rs28706697 1 18383669 [A/G] rs75616573 1 18384589 [A/G] rs9728680 1 18386891 [T/C] JHU_1.18387591 1 18387592 [A/G] rs34983277 1 18388575 [A/G] JHU_1.18389047 1 18389048 [A/T] rs34715622 1 18391766 [T/C] rs4920421 1 18392608 [T/C] NR_125946 LINC01654 Silent rs147422399 1 18393845 [A/G] NR_125946 LINC01654 Silent JHU_1.18396467 1 18396468 [A/G] NR_125946 LINC01654 Silent rs75221996 1 18404208 [T/G] rs17486629 1 18405073 [T/C] JHU_1.18405479 1 18405480 [C/G] JHU_1.18406626 1 18406627 [A/G] rs79199193 1 18407136 [A/G] JHU_1.18408230 1 18408231 [T/C] rs9660584 1 18408767 [T/C] JHU_1.18410970 1 18410971 [T/G] JHU_1.18416654 1 18416655 [A/C] JHU_1.18417288 1 18417289 [A/C] JHU_1.18417317 1 18417318 [A/G] JHU_1.18417435 1 18417436 [A/T] rs34368678 1 18417575 [G/C] rs56075670 1 18418325 [A/G] rs75092216 1 18418443 [T/C] JHU_1.18420143 1 18420144 [A/G] JHU_1.18422629 1 18422630 [G/C] rs71643484 1 18422761 [A/G] rs9804128 1 18425011 [A/G] rs74056282 1 18425462 [A/G] rs111545400 1 18426370 [A/G] JHU_1.18426470 1 18426471 [T/C] JHU_1.18426701 1 18426702 [C/G] rs72938186 1 18426831 [A/G] rs12740505 1 18427031 [A/G] rs75918217 1 18427445 [T/C] rs77799577 1 18427610 [G/C] JHU_1.18428112 1 18428113 [T/C] rs930851 1 18429575 [A/G] rs12133062 1 18433355 [A/G] rs11806559 1 18434981 [T/C] NM_032880 IGSF21 Silent rs11261045 1 18437923 [T/A] NM_032880 IGSF21 Silent rs4920295 1 18438239 [A/C] NM_032880 IGSF21 Silent rs79909514 1 18438893 [T/G] NM_032880 IGSF21 Silent JHU_1.18439990 1 18439991 [A/G] NM_032880 IGSF21 Silent JHU_1.18440221 1 18440222 [T/A] NM_032880 IGSF21 Silent JHU_1.18440455 1 18440456 [A/G] NM_032880 IGSF21 Silent rs16861571 1 18441153 [A/C] NM_032880 IGSF21 Silent rs114046210 1 18443684 [A/G] NM_032880 IGSF21 Silent rs1342570 1 18443992 [T/C] NM_032880 IGSF21 Silent rs112141609 1 18444864 [A/G] NM_032880 IGSF21 Silent rs9660827 1 18445430 [T/C] NM_032880 IGSF21 Silent rs1858589 1 18447551 [T/C] NM_032880 IGSF21 Silent rs988001 1 18448158 [A/G] NM_032880 IGSF21 Silent rs12735521 1 18450321 [T/C] NM_032880 IGSF21 Silent rs9660950 1 18453200 [T/C] NM_032880 IGSF21 Silent rs12124959 1 18454136 [A/C] NM_032880 IGSF21 Silent rs4920435 1 18456382 [A/G] NM_032880 IGSF21 Silent JHU_1.18459401 1 18459402 [T/C] NM_032880 IGSF21 Silent JHU_1.18459404 1 18459405 [A/G] NM_032880 IGSF21 Silent rs12066623 1 18460293 [A/G] NM_032880 IGSF21 Silent JHU_1.18460695 1 18460696 [G/C] NM_032880 IGSF21 Silent rs77549966 1 18460995 [T/C] NM_032880 IGSF21 Silent JHU_1.18461306 1 18461307 [A/G] NM_032880 IGSF21 Silent rs12036744 1 18461490 [T/C] NM_032880 IGSF21 Silent rs146350556 1 18463954 [A/C] NM_032880 IGSF21 Silent rs74428983 1 18464526 [A/C] NM_032880 IGSF21 Silent rs61766496 1 18466693 [A/C] NM_032880 IGSF21 Silent rs2005010 1 18467153 [T/C] NM_032880 IGSF21 Silent rs2005334 1 18467265 [A/G] NM_032880 IGSF21 Silent JHU_1.18467947 1 18467948 [A/C] NM_032880 IGSF21 Silent rs876032 1 18468093 [T/C] NM_032880 IGSF21 Silent rs1455913 1 18468789 [A/G] NM_032880 IGSF21 Silent rs753305 1 18470009 [T/C] NM_032880 IGSF21 Silent JHU_1.18470606 1 18470607 [T/C] NM_032880 IGSF21 Silent rs10907331 1 18471278 [A/G] NM_032880 IGSF21 Silent rs117469634 1 18471561 [A/G] NM_032880 IGSF21 Silent rs72942389 1 18471613 [T/C] NM_032880 IGSF21 Silent JHU_1.18471704 1 18471705 [A/G] NM_032880 IGSF21 Silent JHU_1.18471951 1 18471952 [A/C] NM_032880 IGSF21 Silent rs9329469 1 18473343 [T/C] NM_032880 IGSF21 Silent rs74792281 1 18475434 [A/C] NM_032880 IGSF21 Silent rs9660184 1 18475485 [T/C] NM_032880 IGSF21 Silent rs11261097 1 18476084 [A/G] NM_032880 IGSF21 Silent rs9727014 1 18476187 [T/C] NM_032880 IGSF21 Silent rs9661686 1 18477905 [T/C] NM_032880 IGSF21 Silent rs75951355 1 18478092 [T/C] NM_032880 IGSF21 Silent rs12564645 1 18479417 [T/C] NM_032880 IGSF21 Silent JHU_1.18480619 1 18480620 [A/G] NM_032880 IGSF21 Silent rs4920444 1 18481430 [T/G] NM_032880 IGSF21 Silent rs11800573 1 18484005 [A/G] NM_032880 IGSF21 Silent JHU_1.18487045 1 18487046 [T/C] NM_032880 IGSF21 Silent JHU_1.18487356 1 18487357 [T/C] NM_032880 IGSF21 Silent JHU_1.18487383 1 18487384 [G/C] NM_032880 IGSF21 Silent JHU_1.18487655 1 18487656 [T/C] NM_032880 IGSF21 Silent JHU_1.18487715 1 18487716 [A/G] NM_032880 IGSF21 Silent JHU_1.18487809 1 18487810 [T/C] NM_032880 IGSF21 Silent JHU_1.18487812 1 18487813 [T/C] NM_032880 IGSF21 Silent JHU_1.18487905 1 18487906 [T/C] NM_032880 IGSF21 Silent JHU_1.18487991 1 18487992 [A/G] NM_032880 IGSF21 Silent JHU_1.18488047 1 18488048 [T/C] NM_032880 IGSF21 Silent JHU_1.18489556 1 18489557 [T/G] NM_032880 IGSF21 Silent rs4920299 1 18489949 [T/C] NM_032880 IGSF21 Silent JHU_1.18490054 1 18490055 [A/G] NM_032880 IGSF21 Silent rs4920300 1 18490061 [T/C] NM_032880 IGSF21 Silent JHU_1.18490381 1 18490382 [A/G] NM_032880 IGSF21 Silent rs11260940 1 18490551 [A/G] NM_032880 IGSF21 Silent JHU_1.18490594 1 18490595 [A/G] NM_032880 IGSF21 Silent JHU_1.18490650 1 18490651 [T/C] NM_032880 IGSF21 Silent JHU_1.18490708 1 18490709 [A/G] NM_032880 IGSF21 Silent JHU_1.18491211 1 18491212 [A/G] NM_032880 IGSF21 Silent rs76415813 1 18492994 [A/G] NM_032880 IGSF21 Silent rs61763663 1 18494049 [A/C] NM_032880 IGSF21 Silent rs76993720 1 18494531 [A/G] NM_032880 IGSF21 Silent rs4920447 1 18495745 [T/C] NM_032880 IGSF21 Silent JHU_1.18498273 1 18498274 [T/C] NM_032880 IGSF21 Silent rs10907288 1 18499322 [T/C] NM_032880 IGSF21 Silent rs11260944 1 18499396 [C/G] NM_032880 IGSF21 Silent rs11260946 1 18499884 [T/C] NM_032880 IGSF21 Silent rs9726406 1 18501662 [A/C] NM_032880 IGSF21 Silent rs749917 1 18503402 [T/C] NM_032880 IGSF21 Silent JHU_1.18503888 1 18503889 [A/G] NM_032880 IGSF21 Silent rs147482777 1 18504694 [A/G] NM_032880 IGSF21 Silent JHU_1.18505229 1 18505230 [A/G] NM_032880 IGSF21 Silent JHU_1.18505354 1 18505355 [A/C] NM_032880 IGSF21 Silent JHU_1.18507491 1 18507492 [T/C] NM_032880 IGSF21 Silent rs4920449 1 18508512 [A/T] NM_032880 IGSF21 Silent JHU_1.18508952 1 18508953 [A/G] NM_032880 IGSF21 Silent rs17435426 1 18509216 [T/C] NM_032880 IGSF21 Silent rs9728569 1 18510033 [T/G] NM_032880 IGSF21 Silent JHU_1.18510309 1 18510310 [A/G] NM_032880 IGSF21 Silent JHU_1.18512479 1 18512480 [A/G] NM_032880 IGSF21 Silent rs921850 1 18512629 [T/C] NM_032880 IGSF21 Silent JHU_1.18512826 1 18512827 [T/C] NM_032880 IGSF21 Silent JHU_1.18513142 1 18513143 [A/G] NM_032880 IGSF21 Silent JHU_1.18513476 1 18513477 [A/C] NM_032880 IGSF21 Silent rs9727556 1 18515318 [A/C] NM_032880 IGSF21 Silent rs142689935 1 18515881 [G/C] NM_032880 IGSF21 Silent rs1539051 1 18516989 [T/C] NM_032880 IGSF21 Silent rs59087291 1 18517768 [A/G] NM_032880 IGSF21 Silent rs962264 1 18518972 [T/C] NM_032880 IGSF21 Silent rs767654 1 18521689 [T/C] NM_032880 IGSF21 Silent rs12023073 1 18521755 [T/C] NM_032880 IGSF21 Silent rs12411089 1 18522036 [A/C] NM_032880 IGSF21 Silent rs4920452 1 18523140 [A/G] NM_032880 IGSF21 Silent JHU_1.18523158 1 18523159 [A/G] NM_032880 IGSF21 Silent JHU_1.18525248 1 18525249 [A/G] NM_032880 IGSF21 Silent rs142482177 1 18525560 [A/G] NM_032880 IGSF21 Silent rs112933411 1 18525715 [A/G] NM_032880 IGSF21 Silent rs4920458 1 18527000 [T/C] NM_032880 IGSF21 Silent rs4920459 1 18527213 [A/G] NM_032880 IGSF21 Silent rs4920460 1 18527267 [T/C] NM_032880 IGSF21 Silent rs12240238 1 18527295 [T/C] NM_032880 IGSF21 Silent rs12143243 1 18527696 [G/C] NM_032880 IGSF21 Silent rs9725311 1 18528026 [A/G] NM_032880 IGSF21 Silent rs1033190 1 18528848 [T/G] NM_032880 IGSF21 Silent JHU_1.18531644 1 18531645 [A/G] NM_032880 IGSF21 Silent rs4920461 1 18533281 [A/G] NM_032880 IGSF21 Silent rs138264455 1 18533911 [A/G] NM_032880 IGSF21 Silent rs61762141 1 18537154 [C/G] NM_032880 IGSF21 Silent rs140706267 1 18540846 [T/C] NM_032880 IGSF21 Silent rs12031710 1 18541804 [A/G] NM_032880 IGSF21 Silent rs11260955 1 18542324 [A/C] NM_032880 IGSF21 Silent rs11260958 1 18543784 [T/C] NM_032880 IGSF21 Silent rs11578597 1 18545932 [A/G] NM_032880 IGSF21 Silent rs1013007 1 18550409 [T/C] NM_032880 IGSF21 Silent JHU_1.18551915 1 18551916 [A/C] NM_032880 IGSF21 Silent rs114892528 1 18552949 [T/C] NM_032880 IGSF21 Silent rs1341304 1 18554000 [C/G] NM_032880 IGSF21 Silent rs3738087 1 18554356 [T/C] NM_032880 IGSF21 Silent exm24205 1 18554415 [T/C] NM_032880 IGSF21 EXON Missense_P32S rs3738088 1 18554670 [T/G] NM_032880 IGSF21 Silent rs10907296 1 18555659 [T/C] NM_032880 IGSF21 Silent rs17436172 1 18556959 [A/G] NM_032880 IGSF21 Silent rs28620364 1 18558700 [C/G] NM_032880 IGSF21 Silent rs12041734 1 18561590 [T/C] NM_032880 IGSF21 Silent rs10907298 1 18563683 [G/C] NM_032880 IGSF21 Silent exm2264991 1 18563889 [A/G] NM_032880 IGSF21 Silent JHU_1.18564051 1 18564052 [T/C] NM_032880 IGSF21 Silent rs1341306 1 18564669 [A/G] NM_032880 IGSF21 Silent rs11260964 1 18565256 [A/G] NM_032880 IGSF21 Silent JHU_1.18565728 1 18565729 [G/C] NM_032880 IGSF21 Silent JHU_1.18566989 1 18566990 [C/G] NM_032880 IGSF21 Silent JHU_1.18567868 1 18567869 [A/T] NM_032880 IGSF21 Silent JHU_1.18569423 1 18569424 [G/C] NM_032880 IGSF21 Silent JHU_1.18570205 1 18570206 [T/C] NM_032880 IGSF21 Silent JHU_1.18570319 1 18570320 [G/C] NM_032880 IGSF21 Silent JHU_1.18570474 1 18570475 [A/G] NM_032880 IGSF21 Silent rs223173 1 18571771 [T/C] NM_032880 IGSF21 Silent rs109490 1 18572901 [A/G] NM_032880 IGSF21 Silent JHU_1.18573636 1 18573637 [G/C] NM_032880 IGSF21 Silent JHU_1.18573747 1 18573748 [A/G] NM_032880 IGSF21 Silent rs223175 1 18573827 [A/C] NM_032880 IGSF21 Silent JHU_1.18575852 1 18575853 [A/G] NM_032880 IGSF21 Silent JHU_1.18576137 1 18576138 [A/G] NM_032880 IGSF21 Silent JHU_1.18576320 1 18576321 [G/C] NM_032880 IGSF21 Silent JHU_1.18576325 1 18576326 [T/C] NM_032880 IGSF21 Silent rs116764298 1 18576383 [T/C] NM_032880 IGSF21 Silent rs77760508 1 18577977 [T/G] NM_032880 IGSF21 Silent JHU_1.18579934 1 18579935 [T/C] NM_032880 IGSF21 Silent rs11799628 1 18581252 [T/C] NM_032880 IGSF21 Silent JHU_1.18582221 1 18582222 [T/C] NM_032880 IGSF21 Silent JHU_1.18582640 1 18582641 [T/C] NM_032880 IGSF21 Silent rs4920467 1 18583825 [A/G] NM_032880 IGSF21 Silent rs187763059 1 18583885 [A/G] NM_032880 IGSF21 Silent JHU_1.18584343 1 18584344 [T/C] NM_032880 IGSF21 Silent JHU_1.18584602 1 18584603 [T/C] NM_032880 IGSF21 Silent rs223188 1 18585845 [T/C] NM_032880 IGSF21 Silent rs60782076 1 18586268 [T/C] NM_032880 IGSF21 Silent rs419971 1 18589620 [A/G] NM_032880 IGSF21 Silent rs72932972 1 18590734 [T/C] NM_032880 IGSF21 Silent JHU_1.18593325 1 18593326 [T/C] NM_032880 IGSF21 Silent rs60227794 1 18597932 [T/C] NM_032880 IGSF21 Silent JHU_1.18599527 1 18599528 [T/C] NM_032880 IGSF21 Silent JHU_1.18600472 1 18600473 [A/G] NM_032880 IGSF21 Silent rs11801569 1 18600824 [T/C] NM_032880 IGSF21 Silent rs223189 1 18601602 [A/G] NM_032880 IGSF21 Silent JHU_1.18601874 1 18601875 [A/G] NM_032880 IGSF21 Silent JHU_1.18601891 1 18601892 [A/C] NM_032880 IGSF21 Silent rs78206824 1 18602945 [T/C] NM_032880 IGSF21 Silent rs60317728 1 18603441 [T/G] NM_032880 IGSF21 Silent JHU_1.18604700 1 18604701 [T/C] NM_032880 IGSF21 Silent JHU_1.18607560 1 18607561 [T/C] NM_032880 IGSF21 Silent JHU_1.18610171 1 18610172 [T/C] NM_032880 IGSF21 Silent rs78665345 1 18611364 [A/T] NM_032880 IGSF21 Silent rs148401711 1 18611805 [T/C] NM_032880 IGSF21 Silent JHU_1.18611804 1 18611805 [T/C] NM_032880 IGSF21 Silent JHU_1.18613912 1 18613913 [A/C] NM_032880 IGSF21 Silent JHU_1.18615065 1 18615066 [T/C] NM_032880 IGSF21 Silent rs6603893 1 18615392 [A/G] NM_032880 IGSF21 Silent rs185394388 1 18616825 [A/G] NM_032880 IGSF21 Silent JHU_1.18617659 1 18617660 [T/C] NM_032880 IGSF21 Silent rs116694112 1 18617700 [T/G] NM_032880 IGSF21 Silent exm24216 1 18618361 [T/G] NM_032880 IGSF21 EXON Missense_V62G rs115484970 1 18619467 [T/A] NM_032880 IGSF21 Silent rs6694127 1 18619624 [T/C] NM_032880 IGSF21 Silent JHU_1.18620119 1 18620120 [A/C] NM_032880 IGSF21 Silent 1:18620575-G-A 1 18620575 [A/G] NM_032880 IGSF21 Silent JHU_1.18622661 1 18622662 [T/C] NM_032880 IGSF21 Silent JHU_1.18625739 1 18625740 [A/C] NM_032880 IGSF21 Silent JHU_1.18626916 1 18626917 [A/G] NM_032880 IGSF21 Silent JHU_1.18627499 1 18627500 [T/C] NM_032880 IGSF21 Silent rs586433 1 18628584 [A/G] NM_032880 IGSF21 Silent JHU_1.18628658 1 18628659 [A/G] NM_032880 IGSF21 Silent rs61499256 1 18630010 [T/G] NM_032880 IGSF21 Silent rs61169423 1 18630054 [A/C] NM_032880 IGSF21 Silent rs12134352 1 18631175 [T/C] NM_032880 IGSF21 Silent rs75369757 1 18631438 [T/G] NM_032880 IGSF21 Silent JHU_1.18631670 1 18631671 [A/G] NM_032880 IGSF21 Silent rs11260978 1 18632801 [A/G] NM_032880 IGSF21 Silent rs12127986 1 18633357 [T/G] NM_032880 IGSF21 Silent rs28693532 1 18639851 [T/C] NM_032880 IGSF21 Silent JHU_1.18640780 1 18640781 [T/G] NM_032880 IGSF21 Silent JHU_1.18642070 1 18642071 [A/G] NM_032880 IGSF21 Silent rs4920474 1 18643247 [T/C] NM_032880 IGSF21 Silent rs6663855 1 18643577 [A/G] NM_032880 IGSF21 Silent rs4920477 1 18643632 [T/C] NM_032880 IGSF21 Silent JHU_1.18644954 1 18644955 [T/C] NM_032880 IGSF21 Silent rs2078344 1 18647053 [A/G] NM_032880 IGSF21 Silent rs72936996 1 18647158 [A/G] NM_032880 IGSF21 Silent rs72655193 1 18647461 [A/G] NM_032880 IGSF21 Silent rs79542869 1 18647605 [A/G] NM_032880 IGSF21 Silent rs614593 1 18649733 [G/C] NM_032880 IGSF21 Silent rs223225 1 18650705 [T/G] NM_032880 IGSF21 Silent rs149140552 1 18650934 [A/G] NM_032880 IGSF21 Silent rs472714 1 18651260 [A/C] NM_032880 IGSF21 Silent rs76761585 1 18651744 [C/G] NM_032880 IGSF21 Silent rs223167 1 18651946 [C/G] NM_032880 IGSF21 Silent rs1266679 1 18652117 [T/C] NM_032880 IGSF21 Silent JHU_1.18652447 1 18652448 [C/G] NM_032880 IGSF21 Silent rs4920478 1 18655339 [A/G] NM_032880 IGSF21 Silent JHU_1.18657173 1 18657174 [A/G] NM_032880 IGSF21 Silent rs851444 1 18657450 [A/G] NM_032880 IGSF21 Silent rs552749 1 18659641 [T/C] NM_032880 IGSF21 Silent exm24224 1 18661400 [A/G] NM_032880 IGSF21 EXON Missense_R107Q rs74993640 1 18661905 [T/C] NM_032880 IGSF21 Silent JHU_1.18662287 1 18662288 [T/C] NM_032880 IGSF21 Silent rs151261356 1 18664116 [A/G] NM_032880 IGSF21 Silent JHU_1.18664319 1 18664320 [A/G] NM_032880 IGSF21 Silent rs6668265 1 18667321 [G/C] NM_032880 IGSF21 Silent 1:18667440-G-C 1 18667440 [G/C] NM_032880 IGSF21 Silent rs12403407 1 18668108 [T/A] NM_032880 IGSF21 Silent JHU_1.18668884 1 18668885 [A/G] NM_032880 IGSF21 Silent rs12026295 1 18671500 [A/G] NM_032880 IGSF21 Silent rs542634 1 18672774 [A/G] NM_032880 IGSF21 Silent rs72938747 1 18673583 [C/G] NM_032880 IGSF21 Silent rs591910 1 18674624 [A/T] NM_032880 IGSF21 Silent JHU_1.18676398 1 18676399 [A/C] NM_032880 IGSF21 Silent rs638770 1 18676799 [T/C] NM_032880 IGSF21 Silent rs555115 1 18676961 [A/G] NM_032880 IGSF21 Silent rs12734683 1 18678397 [G/C] NM_032880 IGSF21 Silent rs75033049 1 18679018 [T/G] NM_032880 IGSF21 Silent rs4920481 1 18679366 [T/C] NM_032880 IGSF21 Silent rs539132 1 18680330 [A/G] NM_032880 IGSF21 Silent JHU_1.18681435 1 18681436 [A/C] NM_032880 IGSF21 Silent rs10489573 1 18685202 [T/C] NM_032880 IGSF21 Silent rs525448 1 18685434 [A/G] NM_032880 IGSF21 Silent rs118034293 1 18687040 [A/G] NM_032880 IGSF21 Silent rs193162212 1 18688015 [A/C] NM_032880 IGSF21 Silent JHU_1.18688284 1 18688285 [T/C] NM_032880 IGSF21 Silent exm2250385 1 18688658 [T/C] NM_032880 IGSF21 EXON Synonymous_F158F exm24233 1 18688663 [A/G] NM_032880 IGSF21 EXON Missense_R160H 1:18688704-GA 1 18688704 [A/G] NM_032880 IGSF21 EXON Missense_G174R rs4920485 1 18689252 [A/G] NM_032880 IGSF21 Silent exm24239 1 18691718 [T/G] NM_032880 IGSF21 EXON Missense_V181G exm24242 1 18691747 [A/G] NM_032880 IGSF21 EXON Missense_D191N exm24243 1 18691750 [T/G] NM_032880 IGSF21 EXON Missense_A192S exm24248 1 18691864 [T/C] NM_032880 IGSF21 EXON Missense_S230P 1:18691886-GA 1 18691886 [A/G] NM_032880 IGSF21 EXON Missense_R237Q exm24251 1 18691904 [T/C] NM_032880 IGSF21 EXON Missense_T243M exm24261 1 18692014 [A/G] NM_032880 IGSF21 EXON Missense_S280G exm1742323 1 18692020 [A/G] NM_032880 IGSF21 EXON Missense_E282K exm24264 1 18692048 [A/G] NM_032880 IGSF21 EXON Missense_R291H Variant37740 1 18692139 [T/C] NM_032880 IGSF21 EXON Synonymous_C321C rs16861847 1 18692326 [A/G] NM_032880 IGSF21 Silent rs35250542 1 18692905 [A/G] NM_032880 IGSF21 Silent rs7543948 1 18693245 [A/C] NM_032880 IGSF21 Silent rs11260991 1 18693707 [T/G] NM_032880 IGSF21 Silent rs12123650 1 18694036 [A/G] NM_032880 IGSF21 Silent rs142347223 1 18695411 [A/C] NM_032880 IGSF21 Silent rs882916 1 18696215 [A/G] NM_032880 IGSF21 Silent rs11582494 1 18696347 [G/C] NM_032880 IGSF21 Silent rs7514110 1 18697023 [T/G] NM_032880 IGSF21 Silent JHU_1.18700949 1 18700950 [A/G] NM_032880 IGSF21 Silent rs10465917 1 18701489 [C/G] NM_032880 IGSF21 Silent rs10465918 1 18701899 [A/G] NM_032880 IGSF21 Silent exm24276 1 18702848 [T/C] NM_032880 IGSF21 EXON Missense_R354W exm24279 1 18703298 [A/G] NM_032880 IGSF21 EXON Missense_E369G exm24281 1 18703328 [T/C] NM_032880 IGSF21 EXON Missense_T379M exm2232086 1 18703911 [T/C] NM_032880 IGSF21 EXON Missense_T440M JHU_1.18704292 1 18704293 [A/G] NM_032880 IGSF21 Silent rs16861869 1 18704702 [T/C] NM_032880 IGSF21 Silent 1:18704765-CA 1 18704765 [A/C] NM_032880 IGSF21 EXON Missense_T450N exm24310 1 18704791 [A/G] NM_032880 IGSF21 EXON Missense_A459T 1:18705158-T-C 1 18705158 [T/C] rs150999207 1 18705322 [A/C] rs12566510 1 18705694 [A/G] rs115818771 1 18706334 [A/G] rs4920490 1 18709067 [C/G] rs7538502 1 18709741 [T/C] rs74056456 1 18710067 [A/G] rs11809479 1 18712161 [T/C] rs138998202 1 18713999 [T/C] rs12040552 1 18714272 [T/C] rs7538442 1 18716278 [A/G] rs114817034 1 18721216 [A/G] rs1336129 1 18722491 [A/G] rs11810587 1 18722692 [T/C] rs1533622 1 18722846 [A/G] rs12143770 1 18723937 [T/C] rs12138463 1 18724101 [A/G] rs7512723 1 18728581 [T/C] rs7523920 1 18730305 [T/C] rs867538 1 18732980 [T/C] rs6660946 1 18733555 [A/G] rs12059345 1 18733581 [A/G] rs56238912 1 18734267 [T/C] rs140117167 1 18735052 [T/C] rs9662941 1 18736536 [A/G] rs4292924 1 18739521 [T/C] rs149429580 1 18739627 [T/C] rs193206426 1 18741599 [T/C] rs79110338 1 18744588 [T/C] rs1914898 1 18744658 [C/G] rs75224251 1 18749673 [T/C] rs12128025 1 18750431 [T/C] rs142494481 1 18750509 [T/C] rs12076563 1 18750982 [A/T] rs869080 1 18751864 [A/G] rs146607105 1 18752474 [A/G] rs141325521 1 18753043 [A/G] JHU_1.18762045 1 18762046 [T/C] JHU_1.18764215 1 18764216 [T/G] rs59725799 1 18766272 [T/C] rs74370100 1 18767638 [T/C] rs6677903 1 18767738 [T/C] rs2946523 1 18767791 [T/C] rs3007722 1 18768011 [T/C] rs12408368 1 18769575 [T/C] rs2992749 1 18770671 [A/G] 1:18771925-T-C 1 18771925 [T/C] rs75141822 1 18774104 [A/G] rs2946535 1 18774693 [A/G] rs116205321 1 18774946 [A/G] rs11261012 1 18775015 [A/G] rs2992746 1 18776939 [T/C] JHU_1.18781376 1 18781377 [A/C] rs4920497 1 18781486 [A/G] rs76653385 1 18784794 [T/C] rs7535812 1 18786779 [C/G] JHU_1.18789548 1 18789549 [A/G] JHU_1.18790420 1 18790421 [A/G] rs12144656 1 18792300 [T/C] rs3007727 1 18793520 [A/G] JHU_1.18794254 1 18794255 [A/G] rs78129769 1 18794881 [T/G] exm-rs3007729 1 18795255 [T/C] rs11261015 1 18796034 [A/T] rs57323626 1 18796301 [A/C] rs57208035 1 18796961 [T/C] rs3007730 1 18797100 [T/G] rs2992736 1 18797703 [A/G] rs80235901 1 18799123 [A/G] JHU_1.18803011 1 18803012 [A/G] rs77230037 1 18803147 [A/G] JHU_1.18803146 1 18803147 [A/G] JHU_1.18803348 1 18803349 [T/G] rs2992764 1 18804144 [A/G] rs11261017 1 18805328 [T/C] rs11261020 1 18805564 [T/C] rs11261021 1 18806933 [T/C] rs2992756 1 18807339 [T/C] 1:18807720-GA 1 18807720 [A/G] NM_152375 KLHDC7A EXON Missense_R82H exm24328 1 18807755 [A/G] NM_152375 KLHDC7A EXON Missense_G94S 1:18807788-GA 1 18807788 [A/G] NM_152375 KLHDC7A EXON Missense_V105I exm24334 1 18807813 [G/C] NM_152375 KLHDC7A EXON Missense_T113R exm24337 1 18807851 [T/C] NM_152375 KLHDC7A EXON Missense_R126W exm24342 1 18807938 [A/C] NM_152375 KLHDC7A EXON Missense_P155T exm24343 1 18807953 [A/C] NM_152375 KLHDC7A EXON Missense_R160S exm24345 1 18807968 [T/C] NM_152375 KLHDC7A EXON Missense_P165S exm24346 1 18807972 [A/G] NM_152375 KLHDC7A EXON Missense_K166R exm24350 1 18808056 [G/C] NM_152375 KLHDC7A EXON Missense_R194P 1:18808064-CA 1 18808064 [A/C] NM_152375 KLHDC7A EXON Missense_P197T exm24356 1 18808154 [T/C] NM_152375 KLHDC7A EXON Missense_R227C exm24362 1 18808229 [T/C] NM_152375 KLHDC7A EXON Nonsense_Q252X 1:18808277-GA 1 18808277 [A/G] NM_152375 KLHDC7A EXON Missense_V268I exm24366 1 18808280 [T/C] NM_152375 KLHDC7A EXON Nonsense_R269X rs2992753 1 18808292 [A/C] NM_152375 KLHDC7A EXON Missense_H273N exm24367 1 18808292 [A/C] NM_152375 KLHDC7A EXON Missense_H273N 1:18808681-CA 1 18808681 [A/C] NM_152375 KLHDC7A EXON Missense_S402R exm24390 1 18808737 [A/C] NM_152375 KLHDC7A EXON Missense_T421N 1:18808761-GT 1 18808761 [T/G] NM_152375 KLHDC7A EXON Missense_R429L exm24392 1 18808833 [A/C] NM_152375 KLHDC7A EXON Missense_A453E 1:18809013-AG 1 18809013 [A/G] NM_152375 KLHDC7A EXON Missense_D513G exm24404 1 18809019 [A/G] NM_152375 KLHDC7A EXON Missense_Q515R 1:18809043-GA 1 18809043 [A/G] NM_152375 KLHDC7A EXON Missense_R523H exm24406 1 18809047 [A/G] NM_152375 KLHDC7A EXON Missense_M524I 1:18809129-CGGGCA-C 1 18809129 [I/D] NM_152375 KLHDC7A EXON chr1_18809157 1 18809157 [A/G] NM_152375 KLHDC7A EXON Missense_C561Y 1:18809210-CT 1 18809210 [T/C] NM_152375 KLHDC7A EXON Missense_R579W 1:18809292-AC 1 18809292 [A/C] NM_152375 KLHDC7A EXON Missense_D606A 1:18809421-GA 1 18809421 [A/G] NM_152375 KLHDC7A EXON Missense_R649H exm24427 1 18809516 [T/C] NM_152375 KLHDC7A EXON Missense_R681C 1:18809532-GA 1 18809532 [A/G] NM_152375 KLHDC7A EXON Missense_R686H chr1_18809546 1 18809546 [A/G] NM_152375 KLHDC7A EXON Missense_A691T exm24432 1 18809574 [A/G] NM_152375 KLHDC7A EXON Missense_R700Q exm24436 1 18809613 [T/C] NM_152375 KLHDC7A EXON Missense_P713L 1:18809700-CT 1 18809700 [T/C] NM_152375 KLHDC7A EXON Missense_S742L exm24441 1 18809717 [A/G] NM_152375 KLHDC7A EXON Missense_K748E rs2992745 1 18809896 [A/T] NM_152375 KLHDC7A EXON Silent rs872355 1 18812176 [A/G] NM_152375 KLHDC7A EXON Silent rs77434862 1 18813849 [T/C] JHU_1.18815044 1 18815045 [A/G] rs139259098 1 18815757 [A/G] rs4531264 1 18816616 [T/C] rs4501813 1 18816879 [G/C] rs10907314 1 18817181 [A/G] rs6679160 1 18818701 [A/G] rs12073324 1 18818990 [A/C] rs6686713 1 18821416 [T/G] rs12029756 1 18822818 [T/C] JHU_1.18824528 1 18824529 [T/C] rs909948 1 18825203 [A/G] rs75429537 1 18829071 [T/C] rs4920327 1 18829672 [A/G] rs72646426 1 18830838 [A/G] JHU_1.18832453 1 18832454 [T/C] rs2883890 1 18835437 [T/C] rs114623607 1 18835450 [T/A] JHU_1.18836064 1 18836065 [A/G] rs2745303 1 18836431 [A/G] rs78753286 1 18838004 [A/G] rs72646439 1 18838412 [A/G] JHU_1.18838582 1 18838583 [T/C] rs2745302 1 18839126 [A/G] rs2294656 1 18839394 [T/C] rs61760681 1 18841755 [T/G] rs9439664 1 18843834 [A/G] JHU_1.18843833 1 18843834 [A/G] rs11806986 1 18845013 [A/G] rs2816025 1 18851113 [T/G] rs2816028 1 18855542 [T/A] rs11799442 1 18856662 [T/C] rs151338587 1 18857198 [T/G] rs2816030 1 18857598 [T/C] rs12240229 1 18857747 [T/C] rs12240232 1 18858074 [T/C] JHU_1.18859643 1 18859644 [T/G] rs4920513 1 18861128 [T/C] rs150412081 1 18862399 [A/G] rs16862053 1 18864335 [A/G] rs68124995 1 18864374 [T/C] JHU_1.18865247 1 18865248 [A/G] JHU_1.18866970 1 18866971 [T/C] rs9439712 1 18867274 [T/C] JHU_1.18868129 1 18868130 [A/G] JHU_1.18868192 1 18868193 [T/A] JHU_1.18870355 1 18870356 [A/G] JHU_1.18871041 1 18871042 [A/G] JHU_1.18871221 1 18871222 [T/A] rs2816035 1 18871417 [A/T] JHU_1.18872089 1 18872090 [A/G] JHU_1.18872412 1 18872413 [T/A] rs72935224 1 18874361 [T/G] rs12024234 1 18875233 [A/G] rs2745327 1 18876408 [A/G] rs2745326 1 18878678 [T/C] JHU_1.18880078 1 18880079 [T/C] rs4920514 1 18881334 [A/G] rs10907320 1 18882489 [A/G] rs55998142 1 18886074 [T/C] rs17351982 1 18888520 [T/C] JHU_1.18889272 1 18889273 [A/C] rs148282514 1 18892759 [A/G] rs2816048 1 18893763 [T/C] rs76644082 1 18894409 [A/G] rs6698315 1 18895806 [A/G] JHU_1.18897302 1 18897303 [T/A] JHU_1.18902264 1 18902265 [A/T] JHU_1.18903583 1 18903584 [G/C] JHU_1.18904475 1 18904476 [A/G] JHU_1.18904600 1 18904601 [A/G] rs4920515 1 18906195 [T/C] JHU_1.18907067 1 18907068 [G/C] rs77593937 1 18907301 [T/G] rs12566790 1 18908865 [T/C] JHU_1.18912934 1 18912935 [T/C] rs2816065 1 18914423 [T/C] JHU_1.18926066 1 18926067 [A/G] rs77180937 1 18930141 [T/G] rs61760709 1 18930370 [T/C] rs7543000 1 18932744 [A/G] rs6703076 1 18934081 [T/C] JHU_1.18937838 1 18937839 [A/G] rs114113039 1 18939848 [A/G] rs4920522 1 18940380 [T/C] rs909952 1 18941311 [G/C] rs139384719 1 18947165 [A/G] rs74056029 1 18948634 [A/G] rs766326 1 18956615 [C/G] rs75216429 1 18960730 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent 1:18961000-CT 1 18961000 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_R97W,Missense_R97W,Missense_R97W exm2250401 1 18961017 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Synonymous_G102G,Synonymous_G102G,Synonymous_G102G rs183073774 1 18961088 [T/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.18961551 1 18961552 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent exm24465 1 18961612 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_A110V,Missense_A110V,Missense_A110V rs142754204 1 18961618 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_P112L,Missense_P112L,Missense_P112L 1:18961618-CT 1 18961618 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_P112L,Missense_P112L,Missense_P112L rs35439138 1 18962210 [A/T] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs189486758 1 18964288 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs12405869 1 18966463 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.18968453 1 18968454 [A/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs115752672 1 18972217 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs9439713 1 18972776 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs75205876 1 18975725 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs72937288 1 18975918 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs117048577 1 18976224 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2298893 1 18977337 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs1339062 1 18978482 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs6695765 1 18979320 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.18979686 1 18979687 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.18979687 1 18979688 [T/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs742071 1 18979874 [T/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.18980979 1 18980980 [T/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.18980993 1 18980994 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.18983532 1 18983533 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.18988326 1 18988327 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2236835 1 18990251 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs4920338 1 18990793 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs80251126 1 18991801 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.18999099 1 18999100 [T/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs16862125 1 18999794 [A/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19002335 1 19002336 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs200026841 1 19002797 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19003150 1 19003151 [C/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19003555 1 19003556 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs11576839 1 19003593 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs116567327 1 19005488 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs12402156 1 19005670 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs116335107 1 19006355 [T/A] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs114858110 1 19010459 [T/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs143451038 1 19010519 [A/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs7522729 1 19011013 [G/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs12757357 1 19011437 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19011604 1 19011605 [T/A] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs574590 1 19015628 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19016931 1 19016932 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2743208 1 19017855 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent 1:19018254-GA 1 19018254 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_R196Q,Missense_R198Q,Missense_R198Q exm24487 1 19018263 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_E199G,Missense_E201G,Missense_E201G 1:19018281-CT 1 19018281 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_S205L,Missense_S207L,Missense_S207L rs200575057 1 19018305 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_R213H,Missense_R215H,Missense_R215H exm24490 1 19018305 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_R213H,Missense_R215H,Missense_R215H exm24492 1 19018364 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_A233T,Missense_A235T,Missense_A235T chr1_19018419 1 19018419 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_R251K,Missense_R253K,Missense_R253K rs12741080 1 19019351 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2236828 1 19019641 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19019841 1 19019842 [G/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs146705724 1 19021078 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs585075 1 19021373 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs12760805 1 19021544 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs77977448 1 19025478 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19025687 1 19025688 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19026571 1 19026572 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs200642644 1 19027171 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_R269C,Missense_R271C,Missense_R271C 1:19027229-GA 1 19027229 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_G288E,Missense_G290E,Missense_G290E rs2743201 1 19027239 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Synonymous_P291P,Synonymous_P293P,Synonymous_P293P rs2743198 1 19029287 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent 1:19029699-GA 1 19029699 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_R353H,Missense_R355H,Missense_R355H JHU_1.19032247 1 19032248 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2236824 1 19032272 [C/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19032283 1 19032284 [A/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19033326 1 19033327 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs112542638 1 19033350 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs111967932 1 19033381 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs589463 1 19033575 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs682616 1 19034509 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs6695392 1 19034655 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs501080 1 19035393 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19036759 1 19036760 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs17352316 1 19038018 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19038237 1 19038238 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs75799933 1 19038616 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs6670751 1 19041598 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs4920527 1 19042581 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19043011 1 19043012 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19043061 1 19043062 [T/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19043543 1 19043544 [A/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs76483264 1 19045687 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19046029 1 19046030 [T/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2236822 1 19046042 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19046047 1 19046048 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs851124 1 19046188 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19046187 1 19046188 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs518459 1 19047314 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs582451 1 19047403 [C/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs688710 1 19047725 [G/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19048349 1 19048350 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19048483 1 19048484 [C/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs742078 1 19049384 [T/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs11261053 1 19049437 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2236817 1 19049615 [A/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19049850 1 19049851 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19051593 1 19051594 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19051783 1 19051784 [A/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19051828 1 19051829 [A/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19052660 1 19052661 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2236810 1 19053523 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2743191 1 19053570 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs34040356 1 19054127 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19054730 1 19054731 [T/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs17352351 1 19057553 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19058744 1 19058745 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2236801 1 19058918 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs6662318 1 19059334 [A/T] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs9439731 1 19059471 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent JHU_1.19060928 1 19060929 [T/A] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent exm24516 1 19062163 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_P396L,Missense_P398L,Missense_P398L 1:19062193-CT 1 19062193 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_P406L,Missense_P408L,Missense_P408L exm1742986 1 19062204 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_G410S,Missense_G412S,Missense_G412S exm24524 1 19062345 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_G457S,Missense_G459S,Missense_G459S exm24525 1 19062349 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_Y458C,Missense_Y460C,Missense_Y460C rs201148507 1 19062349 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_Y458C,Missense_Y460C,Missense_Y460C Variant37744 1 19062365 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Synonymous_Y463Y,Synonymous_Y465Y,Synonymous_Y465Y 1:19062366-GA 1 19062366 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_G464S,Missense_G466S,Missense_G466S exm24539 1 19062493 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_M506T,Silent,Missense_M508T exm24540 1 19062494 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_M506I,Silent,Missense_M508I JHU_1.19062642 1 19062643 [A/C] NM_001135254 PAX7 Silent JHU_1.19064755 1 19064756 [A/G] NM_001135254 PAX7 Silent rs9439734 1 19065786 [A/G] NM_001135254 PAX7 Silent JHU_1.19066231 1 19066232 [C/G] NM_001135254 PAX7 Silent JHU_1.19066323 1 19066324 [G/C] NM_001135254 PAX7 Silent JHU_1.19066690 1 19066691 [T/C] NM_001135254 PAX7 Silent JHU_1.19066794 1 19066795 [A/G] NM_001135254 PAX7 Silent rs149620472 1 19069013 [A/G] NM_001135254 PAX7 Silent JHU_1.19069056 1 19069057 [G/C] NM_001135254 PAX7 Silent rs551027 1 19069844 [T/C] NM_001135254 PAX7 Silent exm2275428 1 19071356 [A/G] NM_001135254 PAX7 EXON Missense_R484H 1:19071760-G-A 1 19071760 [A/G] NM_001135254 PAX7 EXON Silent rs12121503 1 19074980 [T/C] NM_001135254 PAX7 EXON Silent rs12119666 1 19075898 [A/G] rs117827549 1 19076617 [A/G] rs626600 1 19077825 [A/G] JHU_1.19077962 1 19077963 [A/T] rs1160680 1 19080506 [A/G] JHU_1.19083742 1 19083743 [T/G] rs12123648 1 19084710 [T/G] rs17352385 1 19087695 [A/G] JHU_1.19087904 1 19087905 [T/C] rs2841055 1 19088418 [A/G] rs669138 1 19088899 [T/C] rs2841066 1 19091695 [T/C] rs76978453 1 19093325 [T/C] rs7414734 1 19094738 [A/G] rs61760756 1 19095562 [T/C] 1:19095689-A-C 1 19095689 [A/C] rs16862248 1 19096297 [T/C] JHU_1.19096583 1 19096584 [A/C] JHU_1.19099416 1 19099417 [A/G] rs6603908 1 19100057 [T/C] JHU_1.19101605 1 19101606 [A/G] JHU_1.19102342 1 19102343 [C/G] JHU_1.19103800 1 19103801 [T/C] rs4920344 1 19104381 [A/G] rs78991058 1 19104660 [A/C] JHU_1.19105312 1 19105313 [A/C] rs12565650 1 19108355 [A/G] JHU_1.19108921 1 19108922 [A/C] rs4920537 1 19109183 [T/C] JHU_1.19111077 1 19111078 [A/G] JHU_1.19111354 1 19111355 [T/G] rs4920347 1 19111725 [A/G] rs4920348 1 19111794 [T/C] rs77338647 1 19113524 [A/G] JHU_1.19113523 1 19113524 [A/G] JHU_1.19114230 1 19114231 [A/C] JHU_1.19114300 1 19114301 [T/G] rs3935030 1 19116956 [T/C] rs7549129 1 19119606 [T/C] rs7533384 1 19119851 [A/G] rs6696835 1 19120574 [A/C] rs11261071 1 19122339 [T/C] rs11588793 1 19122672 [T/C] rs12566799 1 19123033 [A/G] rs4920352 1 19126626 [A/C] JHU_1.19127125 1 19127126 [T/C] rs55962532 1 19128884 [A/G] JHU_1.19130519 1 19130520 [A/G] rs4074733 1 19130827 [T/C] rs115810034 1 19130973 [A/G] JHU_1.19131000 1 19131001 [T/C] rs7418296 1 19131080 [A/G] JHU_1.19131154 1 19131155 [A/G] rs4075768 1 19131620 [A/G] rs12097391 1 19132014 [A/G] rs188809715 1 19132797 [T/A] rs7417542 1 19135214 [A/G] JHU_1.19136104 1 19136105 [T/C] JHU_1.19136230 1 19136231 [T/C] rs7521204 1 19138295 [T/C] exm-rs12063142 1 19139517 [T/C] rs187472700 1 19141340 [A/G] rs78041750 1 19141900 [A/G] rs61765794 1 19142349 [G/C] rs115483835 1 19143060 [T/G] 1:19143205-G-A 1 19143205 [A/G] rs12026106 1 19145099 [T/C] rs184917104 1 19145108 [T/C] rs12028479 1 19145137 [T/G] JHU_1.19145136 1 19145137 [T/G] rs75261512 1 19145220 [A/G] JHU_1.19145858 1 19145859 [A/G] rs78707969 1 19146809 [T/C] rs12125880 1 19147761 [A/G] rs12125881 1 19147763 [A/G] JHU_1.19147776 1 19147777 [T/C] rs11261081 1 19149527 [A/C] rs72651824 1 19150875 [T/C] rs72651826 1 19152760 [A/G] rs117399870 1 19153378 [T/C] rs6691420 1 19155969 [T/C] rs12034939 1 19159496 [C/G] rs11261084 1 19159657 [A/G] rs80339882 1 19160683 [T/C] rs12035855 1 19163075 [T/G] rs68160056 1 19164018 [C/G] rs115468593 1 19165525 [T/C] rs147761899 1 19166047 [T/C] exm24549 1 19166140 [T/C] NM_152232 TAS1R2 EXON Missense_A825T exm24550 1 19166157 [A/G] NM_152232 TAS1R2 EXON Missense_P819L exm24566 1 19166479 [T/C] NM_152232 TAS1R2 EXON Missense_D712N exm24567 1 19166482 [T/C] NM_152232 TAS1R2 EXON Missense_D711N Variant37745 1 19166501 [A/G] NM_152232 TAS1R2 EXON Synonymous_P704P 1:19166514-GA 1 19166514 [A/G] NM_152232 TAS1R2 EXON Missense_T700M 1:19166550-AG 1 19166550 [A/G] NM_152232 TAS1R2 EXON Missense_L688P exm24573 1 19166592 [T/C] NM_152232 TAS1R2 EXON Missense_R674H rs112938926 1 19166592 [T/C] NM_152232 TAS1R2 EXON Missense_R674H 1:19166626-TG 1 19166626 [T/G] NM_152232 TAS1R2 EXON Missense_S663R exm24581 1 19166641 [T/C] NM_152232 TAS1R2 EXON Missense_A658T rs146505183 1 19166647 [T/C] NM_152232 TAS1R2 EXON Missense_V656I exm24582 1 19166647 [T/C] NM_152232 TAS1R2 EXON Missense_V656I exm24583 1 19166665 [T/C] NM_152232 TAS1R2 EXON Missense_V650M exm24585 1 19166668 [T/C] NM_152232 TAS1R2 EXON Missense_A649T rs200812417 1 19166823 [T/C] NM_152232 TAS1R2 EXON Missense_R597H exm24593 1 19166823 [T/C] NM_152232 TAS1R2 EXON Missense_R597H exm24594 1 19166829 [A/G] NM_152232 TAS1R2 EXON Missense_I595T exm24597 1 19166893 [T/C] NM_152232 TAS1R2 EXON Missense_A574T 1:19166986-AG 1 19166986 [A/G] NM_152232 TAS1R2 EXON Missense_W543R exm24604 1 19167003 [C/G] NM_152232 TAS1R2 EXON Missense_A537G rs3935570 1 19167371 [T/G] NM_152232 TAS1R2 Silent 1:19168247 1 19168247 [T/C] NM_152232 TAS1R2 EXON Missense_G523S JHU_1.19169612 1 19169613 [A/G] NM_152232 TAS1R2 Silent rs7534618 1 19170078 [T/G] NM_152232 TAS1R2 Silent rs147798231 1 19170833 [T/C] NM_152232 TAS1R2 Silent JHU_1.19173894 1 19173895 [T/G] NM_152232 TAS1R2 Silent rs4920561 1 19175593 [A/G] NM_152232 TAS1R2 Silent variant.1295 1 19175835 [T/C] NM_152232 TAS1R2 EXON Synonymous_T489T exm24613 1 19175846 [T/C] NM_152232 TAS1R2 EXON Missense_I486V exm24615 1 19175875 [T/G] NM_152232 TAS1R2 EXON Missense_K476T exm24619 1 19175895 [T/G] NM_152232 TAS1R2 EXON Nonsense_Y469X exm24620 1 19175900 [A/G] NM_152232 TAS1R2 EXON Missense_Y468H exm24623 1 19175911 [T/C] NM_152232 TAS1R2 EXON Missense_S464N exm24624 1 19175932 [T/C] NM_152232 TAS1R2 EXON Missense_R457Q exm24625 1 19175933 [A/G] NM_152232 TAS1R2 EXON Missense_R457W exm24631 1 19176005 [T/C] NM_152232 TAS1R2 EXON Missense_D433N JHU_1.19176530 1 19176531 [A/G] NM_152232 TAS1R2 Silent rs6603924 1 19176738 [A/G] NM_152232 TAS1R2 Silent JHU_1.19178598 1 19178599 [A/G] NM_152232 TAS1R2 Silent JHU_1.19178743 1 19178744 [A/G] NM_152232 TAS1R2 Silent JHU_1.19179006 1 19179007 [T/G] NM_152232 TAS1R2 Silent rs4920564 1 19179104 [T/G] NM_152232 TAS1R2 Silent JHU_1.19179823 1 19179824 [A/G] NM_152232 TAS1R2 Silent exm24638 1 19180753 [T/C] NM_152232 TAS1R2 EXON Missense_G404D 1:19180889-AG 1 19180889 [A/G] NM_152232 TAS1R2 EXON Missense_C359R 1:19180928-CT 1 19180928 [T/C] NM_152232 TAS1R2 EXON Missense_G346R 1:19180993-CT 1 19180993 [T/C] NM_152232 TAS1R2 EXON Missense_G324D exm24660 1 19181015 [G/C] NM_152232 TAS1R2 EXON Missense_R317G exm24666 1 19181075 [T/C] NM_152232 TAS1R2 EXON Missense_V297M 1:19181095-CT 1 19181095 [T/C] NM_152232 TAS1R2 EXON Missense_R290H 1:19181155-CT 1 19181155 [T/C] NM_152232 TAS1R2 EXON Missense_R270H exm24677 1 19181174 [T/G] NM_152232 TAS1R2 EXON Missense_L264M rs74056647 1 19181174 [T/G] NM_152232 TAS1R2 EXON Missense_L264M chr1_19181200 1 19181200 [T/C] NM_152232 TAS1R2 EXON Missense_Q255R exm24681 1 19181217 [T/C] NM_152232 TAS1R2 EXON Missense_M249I 1:19181248-GA 1 19181248 [A/G] NM_152232 TAS1R2 EXON Missense_T239M exm24685 1 19181264 [T/C] NM_152232 TAS1R2 EXON Missense_I234V 1:19181279-GA 1 19181279 [A/G] NM_152232 TAS1R2 EXON Missense_R229W 1:19181288-GT 1 19181288 [T/G] NM_152232 TAS1R2 EXON Missense_R226S exm2232096 1 19181312 [T/C] NM_152232 TAS1R2 EXON Missense_D218N exm24696 1 19181330 [T/C] NM_152232 TAS1R2 EXON Missense_S212G exm24697 1 19181336 [C/G] NM_152232 TAS1R2 EXON Missense_V210L exm24700 1 19181365 [T/C] NM_152232 TAS1R2 EXON Missense_H200R exm24702 1 19181393 [T/C] NM_152232 TAS1R2 EXON Missense_I191V rs35874116 1 19181393 [T/C] NM_152232 TAS1R2 EXON Missense_I191V rs35454886 1 19181947 [T/C] NM_152232 TAS1R2 Silent exm24712 1 19183875 [T/C] NM_152232 TAS1R2 EXON Missense_E145K chr1_19183922 1 19183922 [T/C] NM_152232 TAS1R2 EXON Missense_S129N 1:19184002-GT 1 19184002 [T/G] NM_152232 TAS1R2 EXON Nonsense_C102X rs199960202 1 19184002 [T/G] NM_152232 TAS1R2 EXON Nonsense_C102X exm24715 1 19184075 [A/G] NM_152232 TAS1R2 EXON Missense_A78V exm24718 1 19184082 [A/G] NM_152232 TAS1R2 EXON Missense_R76C exm24724 1 19186030 [T/C] NM_152232 TAS1R2 EXON Missense_H42R exm24728 1 19186093 [A/G] NM_152232 TAS1R2 EXON Missense_P21L exm24730 1 19186129 [G/C] NM_152232 TAS1R2 EXON Missense_S9C 1:19186145-TC 1 19186145 [T/C] NM_152232 TAS1R2 EXON Missense_R4G rs72651851 1 19186735 [T/G] rs115990772 1 19187095 [A/T] rs11486195 1 19187131 [T/C] rs11486194 1 19187203 [A/G] rs117650872 1 19187730 [T/C] rs28410948 1 19188456 [T/C] rs12736699 1 19189756 [C/G] rs79725738 1 19190655 [T/C] JHU_1.19191576 1 19191577 [A/G] rs9728654 1 19194504 [T/C] rs111289603 1 19195492 [A/G] JHU_1.19195999 1 19196000 [A/G] rs117400049 1 19196956 [C/G] JHU_1.19197236 1 19197237 [T/C] rs1138333 1 19198064 [T/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp468659 1 19198100 [G/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp8524245 1 19198166 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent JHU_1.19198298 1 19198299 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp15236875 1 19198299 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp6288782 1 19198414 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp4426348 1 19198576 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent GA018624 1 19198627 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent GA018625 1 19198637 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp15504222 1 19198837 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent rs9117 1 19198895 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp24983758 1 19198972 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp1588165 1 19199067 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp25228545 1 19199217 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent 1:19199388-TC 1 19199388 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_K548R,Missense_K548R,Missense_K497R,Missense_K488R kgp15758108 1 19199400 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P544L,Missense_P544L,Missense_P493L,Missense_P484L 1:19199406-GA 1 19199406 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T542M,Missense_T542M,Missense_T491M,Missense_T482M rs61757683 1 19199448 [T/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T528N,Missense_T528N,Missense_T477N,Missense_T468N ilmnseq_1:19200238 1 19200238 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent ilmnseq_1:19200292 1 19200292 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent ilmnseq_1:19200392 1 19200392 [T/A] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent exm24753 1 19200974 [G/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_G521A,Missense_G521A,Missense_G470A,Missense_G461A Variant2101 1 19200975 [I/D] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON kgp1362896 1 19200988 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_G516G,Synonymous_G516G,Synonymous_G465G,Synonymous_G456G exm24761 1 19201071 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V489I,Missense_V489I,Missense_V438I,Missense_V429I rs75528896 1 19201291 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent ilmnseq_1:19201344 1 19201344 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent ilmnseq_1:19201840 1 19201840 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent ilmnseq_1:19201842 1 19201842 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent exm24765 1 19201919 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T473A,Missense_T473A,Missense_T422A,Missense_T413A rs6695033 1 19201919 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T473A,Missense_T473A,Missense_T422A,Missense_T413A exm24766 1 19201928 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V470I,Missense_V470I,Missense_V419I,Missense_V410I exm24769 1 19201951 [T/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_K462T,Missense_K462T,Missense_K411T,Missense_K402T rs2230708 1 19201956 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_D460D,Synonymous_D460D,Synonymous_D409D,Synonymous_D400D 1:19201969-TC 1 19201969 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_Y456C,Missense_Y456C,Missense_Y405C,Missense_Y396C 1:19201990-AG 1 19201990 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_F449S,Missense_F449S,Missense_F398S,Missense_F389S rs28434041 1 19202208 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent rs6426802 1 19202507 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent exm24778 1 19202886 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_C421R,Missense_C421R,Silent,Missense_C361R exm2264807 1 19202896 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_A417A,Synonymous_A417A,Silent,Synonymous_A357A GA018629 1 19202926 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_A407A,Synonymous_A407A,Silent,Synonymous_A347A exm24789 1 19202933 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_E405G,Missense_E405G,Silent,Missense_E345G 1:19202951-CT 1 19202951 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_R399H,Missense_R399H,Silent,Missense_R339H 1:19203702-CA 1 19203702 [A/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_K395N,Missense_K395N,Missense_K395N,Missense_K335N kgp10529598 1 19203725 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_F388L,Missense_F388L,Missense_F388L,Missense_F328L exm24795 1 19203725 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_F388L,Missense_F388L,Missense_F388L,Missense_F328L exm24797 1 19203910 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_D379D,Synonymous_D379D,Synonymous_D379D,Synonymous_D319D 1:19203926-CA 1 19203926 [A/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_R374L,Missense_R374L,Missense_R374L,Missense_R314L exm24800 1 19203951 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_G366R,Missense_G366R,Missense_G366R,Missense_G306R kgp789765 1 19203961 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_P362P,Synonymous_P362P,Synonymous_P362P,Synonymous_P302P exm24804 1 19203974 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_H358R,Missense_H358R,Missense_H358R,Missense_H298R JHU_1.19203996 1 19203997 [C/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_A350A,Synonymous_A350A,Synonymous_A350A,Synonymous_A290A GA000342 1 19203997 [C/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_A350A,Synonymous_A350A,Synonymous_A350A,Synonymous_A290A exm24808 1 19203999 [A/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A350S,Missense_A350S,Missense_A350S,Missense_A290S 1:19204053-CT 1 19204053 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V332M,Missense_V332M,Missense_V332M,Missense_V272M rs7366122 1 19204645 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent rs28657562 1 19205124 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent rs76815595 1 19205494 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent exm24820 1 19205865 [G/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T290S,Missense_T290S,Missense_T290S,Missense_T230S rs7365978 1 19206020 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent JHU_1.19206032 1 19206033 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent rs28441017 1 19206334 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent JHU_1.19206733 1 19206734 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent ilmnseq_1:19207906 1 19207906 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent exm24821 1 19208194 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P289L,Missense_P289L,Missense_P289L,Missense_P229L exm24826 1 19208293 [C/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P256R,Missense_P256R,Missense_P256R,Missense_P196R kgp15160198 1 19208316 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_I248I,Synonymous_I248I,Synonymous_I248I,Synonymous_I188I JHU_1.19208534 1 19208535 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent rs182040643 1 19208564 [G/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent rs201404998 1 19209619 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_M226T,Missense_M226T,Missense_M226T,Missense_M166T chr1_19209682 1 19209682 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A205V,Missense_A205V,Missense_A205V,Missense_A145V kgp15749192 1 19209759 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504,NR_039844 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1,MIR4695 EXON Silent,Silent,Silent,Silent,Silent exm24847 1 19209792 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T195M,Missense_T195M,Missense_T195M,Missense_T135M rs7365362 1 19210816 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent ilmnseq_1:19211950 1 19211950 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent rs113846237 1 19211987 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A145T,Missense_A145T,Missense_A145T,Missense_A85T exm24856 1 19211987 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A145T,Missense_A145T,Missense_A145T,Missense_A85T rs139640415 1 19212007 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P138L,Missense_P138L,Missense_P138L,Missense_P78L exm24865 1 19212051 [G/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_D123E,Missense_D123E,Missense_D123E,Missense_D63E 1:19212055-GA 1 19212055 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A122V,Missense_A122V,Missense_A122V,Missense_A62V rs9426638 1 19213440 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent JHU_1.19213808 1 19213809 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent JHU_1.19214280 1 19214281 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent ilmnseq_1:19214612 1 19214612 [A/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent ilmnseq_1:19215276 1 19215276 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent rs4911985 1 19215440 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent rs76762510 1 19215861 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V82M,Missense_V82M,Missense_V82M,Missense_V22M exm2232099 1 19215926 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_R60Q,Missense_R60Q,Missense_R60Q,Silent exm24881 1 19215927 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_R60W,Missense_R60W,Missense_R60W,Silent 1:19216516-GA 1 19216516 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A49V,Missense_A49V,Missense_A49V,Silent ilmnseq_1:19216697 1 19216697 [T/C] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent,Silent rs28582076 1 19217295 [A/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent kgp15297026 1 19217299 [C/G] NM_170726,NM_003748,NM_001319218,NM_001161504 ALDH4A1,ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent,Silent ilmnseq_1:19217693 1 19217693 [T/A] NM_170726,NM_003748,NM_001319218 ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent rs28709274 1 19220442 [A/T] NM_170726,NM_003748,NM_001319218 ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent ilmnseq_1:19221535 1 19221535 [T/C] NM_170726,NM_003748,NM_001319218 ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent rs77287547 1 19227382 [A/G] NM_170726,NM_003748,NM_001319218 ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent kgp15363246 1 19229092 [A/G] NM_170726,NM_003748,NM_001319218 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent rs79838092 1 19230891 [A/G] NM_001136265 IFFO2 EXON Silent rs7524223 1 19232690 [A/G] NM_001136265 IFFO2 EXON Silent 1:19235086-CT 1 19235086 [T/C] NM_001136265 IFFO2 EXON Missense_R508H exm24900 1 19235138 [T/C] NM_001136265 IFFO2 EXON Missense_V491M rs6673711 1 19235517 [T/C] NM_001136265 IFFO2 Silent exm24907 1 19236932 [T/C] NM_001136265 IFFO2 EXON Missense_R451Q rs2024725 1 19237275 [T/C] NM_001136265 IFFO2 Silent rs28419366 1 19239237 [T/A] NM_001136265 IFFO2 Silent JHU_1.19239802 1 19239803 [A/G] NM_001136265 IFFO2 Silent JHU_1.19239894 1 19239895 [A/G] NM_001136265 IFFO2 Silent JHU_1.19240194 1 19240195 [T/C] NM_001136265 IFFO2 Silent JHU_1.19240240 1 19240241 [A/G] NM_001136265 IFFO2 Silent JHU_1.19240620 1 19240621 [A/G] NM_001136265 IFFO2 Silent rs6678879 1 19240679 [A/T] NM_001136265 IFFO2 Silent rs55866178 1 19241864 [G/C] NM_001136265 IFFO2 Silent exm24915 1 19243446 [T/C] NM_001136265 IFFO2 EXON Missense_V352I 1:19243514-CT 1 19243514 [T/C] NM_001136265 IFFO2 EXON Missense_R329H JHU_1.19243968 1 19243969 [T/G] NM_001136265 IFFO2 Silent rs4912055 1 19244306 [T/C] NM_001136265 IFFO2 Silent rs75517746 1 19244363 [A/G] NM_001136265 IFFO2 Silent rs4912056 1 19244678 [T/C] NM_001136265 IFFO2 Silent variant.1309 1 19244930 [A/G] NM_001136265 IFFO2 EXON Nonsense_R297X rs60224191 1 19245791 [A/C] NM_001136265 IFFO2 Silent rs28677055 1 19246539 [A/G] NM_001136265 IFFO2 Silent rs112199704 1 19247794 [A/G] NM_001136265 IFFO2 Silent rs4603153 1 19249116 [T/C] NM_001136265 IFFO2 Silent rs74969528 1 19250889 [A/G] NM_001136265 IFFO2 Silent JHU_1.19250888 1 19250889 [A/G] NM_001136265 IFFO2 Silent rs74973887 1 19251434 [A/G] NM_001136265 IFFO2 Silent JHU_1.19253381 1 19253382 [A/G] NM_001136265 IFFO2 Silent JHU_1.19254695 1 19254696 [G/C] NM_001136265 IFFO2 Silent rs56115287 1 19255334 [T/C] NM_001136265 IFFO2 Silent rs6674337 1 19255754 [A/G] NM_001136265 IFFO2 Silent rs17387963 1 19258375 [A/G] NM_001136265 IFFO2 Silent rs16862387 1 19258723 [A/G] NM_001136265 IFFO2 Silent rs992660 1 19261241 [A/G] NM_001136265 IFFO2 Silent rs4912087 1 19263783 [A/G] NM_001136265 IFFO2 Silent rs58636332 1 19265077 [T/G] NM_001136265 IFFO2 Silent rs150817735 1 19268401 [T/C] NM_001136265 IFFO2 Silent JHU_1.19271864 1 19271865 [A/G] NM_001136265 IFFO2 Silent rs186268478 1 19271880 [A/G] NM_001136265 IFFO2 Silent rs2024727 1 19274525 [T/C] NM_001136265 IFFO2 Silent rs117470401 1 19276505 [A/G] NM_001136265 IFFO2 Silent rs79862136 1 19277615 [A/G] NM_001136265 IFFO2 Silent rs28422004 1 19279048 [A/G] NM_001136265 IFFO2 Silent rs78358377 1 19279232 [T/C] NM_001136265 IFFO2 Silent JHU_1.19281425 1 19281426 [A/G] NM_001136265 IFFO2 Silent rs139453049 1 19281616 [A/G] NM_001136265 IFFO2 Silent 1:19282633-CT 1 19282633 [T/C] NM_001136265 IFFO2 EXON Missense_R65H JHU_1.19283814 1 19283815 [A/G] rs4912013 1 19284564 [T/C] rs72945707 1 19290682 [T/C] rs16862410 1 19293290 [T/C] rs6682349 1 19295991 [A/T] rs144446348 1 19297326 [T/A] JHU_1.19297810 1 19297811 [T/G] JHU_1.19301418 1 19301419 [G/C] rs75074362 1 19302310 [A/G] rs7529375 1 19302972 [T/C] rs72645669 1 19306344 [A/G] JHU_1.19307254 1 19307255 [T/C] JHU_1.19308074 1 19308075 [A/G] rs28754724 1 19312748 [A/G] rs150430965 1 19318133 [T/C] rs138751881 1 19318850 [G/C] rs6697292 1 19320209 [T/G] rs16862426 1 19321495 [T/C] JHU_1.19323244 1 19323245 [A/G] JHU_1.19323405 1 19323406 [A/G] JHU_1.19329151 1 19329152 [A/C] JHU_1.19329896 1 19329897 [A/G] rs116191607 1 19330496 [G/C] rs74228436 1 19332791 [T/C] JHU_1.19332790 1 19332791 [T/C] rs7531434 1 19335792 [A/C] rs147462169 1 19337551 [A/G] rs189188625 1 19341735 [A/G] JHU_1.19344334 1 19344335 [A/G] rs7531834 1 19344501 [A/G] rs9426713 1 19347951 [T/C] rs9426714 1 19355128 [A/G] JHU_1.19355782 1 19355783 [A/G] JHU_1.19357181 1 19357182 [A/G] rs912845 1 19358015 [A/C] rs75692075 1 19358332 [T/C] JHU_1.19358331 1 19358332 [T/C] JHU_1.19359229 1 19359230 [A/G] 1:19361129-T-C 1 19361129 [T/C] JHU_1.19362490 1 19362491 [T/C] rs141576747 1 19364768 [A/G] rs10492996 1 19365552 [T/C] rs75515832 1 19365962 [T/C] JHU_1.19366997 1 19366998 [A/G] JHU_1.19368746 1 19368747 [A/G] JHU_1.19370987 1 19370988 [T/C] rs17389189 1 19370988 [T/C] rs35272752 1 19372117 [A/G] rs75613906 1 19373032 [G/C] rs12410383 1 19373360 [T/C] rs6683868 1 19375841 [A/G] rs4912036 1 19376017 [A/G] JHU_1.19376522 1 19376523 [G/C] JHU_1.19381703 1 19381704 [A/G] rs10799662 1 19382691 [T/C] rs4911972 1 19383877 [A/C] JHU_1.19386584 1 19386585 [A/C] JHU_1.19387118 1 19387119 [T/C] rs61763751 1 19387684 [T/C] rs114233481 1 19387694 [A/G] JHU_1.19389541 1 19389542 [A/G] rs10916867 1 19391177 [A/G] JHU_1.19392202 1 19392203 [A/G] rs34114464 1 19393531 [T/C] rs148732138 1 19394376 [A/G] JHU_1.19394804 1 19394805 [A/G] rs74056742 1 19396724 [T/G] rs72649592 1 19397229 [A/G] JHU_1.19399036 1 19399037 [G/C] JHU_1.19400096 1 19400097 [T/C] rs3748762 1 19400626 [T/C] exm24927 1 19401331 [T/G] NM_020765 UBR4 EXON Missense_P5183T exm24930 1 19401367 [G/C] NM_020765 UBR4 EXON Missense_P5171A exm24932 1 19401382 [T/A] NM_020765 UBR4 EXON Missense_S5166T rs41273185 1 19401445 [T/C] NM_020765 UBR4 Silent rs79696656 1 19402378 [T/C] NM_020765 UBR4 Silent rs75880047 1 19402655 [A/G] NM_020765 UBR4 Silent rs137978878 1 19403173 [T/C] NM_020765 UBR4 Silent exm24935 1 19403234 [T/C] NM_020765 UBR4 EXON Missense_G5163S exm2232105 1 19404544 [T/C] NM_020765 UBR4 EXON Missense_V5084M rs2146866 1 19405237 [A/G] NM_020765 UBR4 Silent JHU_1.19407356 1 19407357 [A/G] NM_020765 UBR4 Silent exm24960 1 19407898 [A/G] NM_020765 UBR4 EXON Missense_R5060W exm24963 1 19407912 [T/C] NM_020765 UBR4 EXON Missense_R5055H 1:19407913-GA 1 19407913 [A/G] NM_020765 UBR4 EXON Missense_R5055C 1:19407991-CA 1 19407991 [A/C] NM_020765 UBR4 EXON Missense_A5029S exm24965 1 19408014 [A/G] NM_020765 UBR4 EXON Missense_P5021L 1:19408132-GGAA-G 1 19408132 [I/D] NM_020765 UBR4 1:19408152-CT 1 19408152 [T/C] NM_020765 UBR4 Silent Variant31 1 19408294 [D/I] NM_020765 UBR4 rs12164540 1 19408380 [T/C] NM_020765 UBR4 Silent exm2275429 1 19411111 [A/G] NM_020765 UBR4 EXON Synonymous_F4965F rs72651009 1 19412231 [T/C] NM_020765 UBR4 Silent rs79609243 1 19412492 [T/C] NM_020765 UBR4 Silent variant.1314 1 19412634 [T/C] NM_020765 UBR4 Silent 1:19412717-GA 1 19412717 [A/G] NM_020765 UBR4 EXON Missense_A4912V exm24985 1 19413207 [T/C] NM_020765 UBR4 EXON Missense_I4885V exm24987 1 19413261 [A/T] NM_020765 UBR4 EXON Missense_M4867L exm24994 1 19415254 [A/G] NM_020765 UBR4 EXON Missense_T4810M exm24998 1 19415369 [A/G] NM_020765 UBR4 EXON Missense_R4772W rs16862517 1 19415439 [T/C] NM_020765 UBR4 EXON Synonymous_L4748L exm25002 1 19415470 [A/C] NM_020765 UBR4 EXON Missense_V4738G chr1_19419814 1 19419814 [T/C] NM_020765 UBR4 EXON Missense_A4702T 1:19419817-TC 1 19419817 [T/C] NM_020765 UBR4 EXON Missense_S4701G rs6696208 1 19420227 [T/C] NM_020765 UBR4 Silent exm25030 1 19423098 [T/C] NM_020765 UBR4 EXON Missense_M4479I 1:19423729-CT 1 19423729 [T/C] NM_020765 UBR4 EXON Missense_D4450N exm25037 1 19427021 [T/G] NM_020765 UBR4 EXON Missense_P4357H JHU_1.19430683 1 19430684 [A/G] NM_020765 UBR4 EXON Synonymous_T4265T exm25048 1 19431115 [T/C] NM_020765 UBR4 EXON Missense_D4231N exm25051 1 19431567 [A/G] NM_020765 UBR4 EXON Missense_P4207L JHU_1.19431879 1 19431880 [T/A] NM_020765 UBR4 Silent exm1743856 1 19432290 [A/G] NM_020765 UBR4 EXON Missense_T4147I exm25064 1 19432330 [A/C] NM_020765 UBR4 EXON Missense_F4134V 1:19433121-CT 1 19433121 [T/C] NM_020765 UBR4 EXON Missense_R4112Q 1:19433215-CT 1 19433215 [T/C] NM_020765 UBR4 EXON Missense_D4081N JHU_1.19436515 1 19436516 [T/C] NM_020765 UBR4 Silent variant.1317 1 19436585 [A/G] NM_020765 UBR4 Silent indel.1318 1 19436596 [D/I] NM_020765 UBR4 EXON exm25076 1 19436950 [A/G] NM_020765 UBR4 EXON Synonymous_S3967S exm2250432 1 19436950 [A/G] NM_020765 UBR4 EXON Synonymous_S3967S exm25082 1 19437319 [A/G] NM_020765 UBR4 EXON Missense_P3937S exm25086 1 19439136 [T/C] NM_020765 UBR4 EXON Missense_A3895T 1:19440380-GA 1 19440380 [A/G] NM_020765 UBR4 Silent exm25113 1 19440481 [T/G] NM_020765 UBR4 EXON Missense_N3762K rs2274005 1 19441058 [T/A] NM_020765 UBR4 Silent 1:19441381-GA 1 19441381 [A/G] NM_020765 UBR4 EXON Missense_A3709V rs140820885 1 19441737 [T/C] NM_020765 UBR4 Silent exm25135 1 19443890 [T/C] NM_020765 UBR4 EXON Missense_I3550V JHU_1.19445302 1 19445303 [T/G] NM_020765 UBR4 Silent exm25146 1 19446119 [A/G] NM_020765 UBR4 EXON Missense_R3463C 1:19446776-GA 1 19446776 [A/G] NM_020765 UBR4 EXON Missense_A3403V exm25163 1 19446804 [T/C] NM_020765 UBR4 EXON Missense_A3394T exm25165 1 19447752 [T/G] NM_020765 UBR4 EXON Missense_Q3358K 1:19447881-CT 1 19447881 [T/C] NM_020765 UBR4 EXON Missense_V3315M exm25177 1 19448473 [T/C] NM_020765 UBR4 EXON Missense_A3284T 1:19448475-GA 1 19448475 [A/G] NM_020765 UBR4 EXON Missense_A3283V exm25183 1 19449430 [T/C] NM_020765 UBR4 EXON Missense_R3238H chr1_19452990 1 19452990 [T/C] NM_020765 UBR4 EXON Missense_T3130A 1:19454209-TC 1 19454209 [T/C] NM_020765 UBR4 EXON Missense_S3046G exm25209 1 19455492 [A/G] NM_020765 UBR4 EXON Missense_R2995W exm25211 1 19455509 [T/C] NM_020765 UBR4 EXON Missense_R2989Q 1:19455555-GT 1 19455555 [T/G] NM_020765 UBR4 EXON Missense_R2974S JHU_1.19457762 1 19457763 [A/G] NM_020765 UBR4 Silent rs115360533 1 19458373 [A/T] NM_020765 UBR4 Silent JHU_1.19462397 1 19462398 [T/C] NM_020765 UBR4 Silent 1:19464530-TTTCTCC-T 1 19464530 [D/I] NM_020765 UBR4 EXON exm25214 1 19464666 [T/C] NM_020765 UBR4 EXON Missense_R2914Q exm25228 1 19467924 [T/G] NM_020765 UBR4 EXON Missense_P2802H JHU_1.19470661 1 19470662 [T/C] NM_020765 UBR4 Silent rs116422625 1 19471100 [T/C] NM_020765 UBR4 Silent exm25238 1 19471374 [T/C] NM_020765 UBR4 EXON Missense_N2658S exm25240 1 19471390 [T/C] NM_020765 UBR4 EXON Missense_I2653V 1:19473472-GA 1 19473472 [A/G] NM_020765 UBR4 EXON Missense_A2551V 1:19474536-CT 1 19474536 [T/C] NM_020765 UBR4 EXON Missense_S2527N chr1_19474560 1 19474560 [A/G] NM_020765 UBR4 EXON Missense_A2519V exm25268 1 19477246 [A/C] NM_020765 UBR4 EXON Missense_A2419S 1:19478125-TG 1 19478125 [T/G] NM_020765 UBR4 Silent 1:19478292-CA 1 19478292 [A/C] NM_020765 UBR4 EXON Missense_R2353L exm25279 1 19478303 [G/C] NM_020765 UBR4 EXON Missense_M2349I 1:19478338-TC 1 19478338 [T/C] NM_020765 UBR4 EXON Missense_I2338V exm25284 1 19478814 [T/C] NM_020765 UBR4 EXON Missense_N2330S 1:19478961-GA 1 19478961 [A/G] NM_020765 UBR4 EXON Missense_T2281M exm25295 1 19480281 [G/C] NM_020765 UBR4 EXON Missense_T2204S rs117574323 1 19481477 [T/C] NM_020765 UBR4 EXON Synonymous_S2131S newrs113068889 1 19482760 [T/C] NM_020765 UBR4 Silent 1:19482820-AG 1 19482820 [A/G] NM_020765 UBR4 EXON Missense_V2006A 1:19486688-CT 1 19486688 [T/C] NM_020765 UBR4 EXON Missense_V1832I 1:19487529-GA 1 19487529 [A/G] NM_020765 UBR4 EXON Missense_S1763L exm25376 1 19489077 [A/T] NM_020765 UBR4 EXON Missense_H1598L 1:19489080-CT 1 19489080 [T/C] NM_020765 UBR4 EXON Missense_C1597Y 1:19490849-CT 1 19490849 [T/C] NM_020765 UBR4 EXON Missense_G1533D exm1744133 1 19491416 [T/C] NM_020765 UBR4 EXON Missense_R1463H exm25401 1 19492160 [A/G] NM_020765 UBR4 EXON Missense_F1401L exm25404 1 19493520 [T/G] NM_020765 UBR4 EXON Missense_N1369H exm25405 1 19493528 [A/G] NM_020765 UBR4 EXON Missense_A1366V 1:19493628-AG 1 19493628 [A/G] NM_020765 UBR4 EXON Missense_S1333P exm25410 1 19493633 [T/C] NM_020765 UBR4 EXON Missense_S1331N exm25423 1 19494605 [A/G] NM_020765 UBR4 EXON Missense_T1272I exm25429 1 19496018 [T/G] NM_020765 UBR4 EXON Missense_L1218M exm25430 1 19496023 [A/G] NM_020765 UBR4 EXON Missense_P1216L rs60319201 1 19496805 [A/C] NM_020765 UBR4 Silent exm25435 1 19497330 [A/G] NM_020765 UBR4 EXON Missense_P1190L rs75914396 1 19497481 [T/C] NM_020765 UBR4 Silent exm1744174 1 19499427 [A/G] NM_020765 UBR4 EXON Missense_S1151L 1:19499468-CA 1 19499468 [A/C] NM_020765 UBR4 EXON Missense_E1137D 1:19499502-GA 1 19499502 [A/G] NM_020765 UBR4 EXON Missense_A1126V exm25450 1 19499560 [T/C] NM_020765 UBR4 EXON Missense_T1107A 1:19499679-CA 1 19499679 [A/C] NM_020765 UBR4 EXON Missense_R1096L 1:19499757-GA 1 19499757 [A/G] NM_020765 UBR4 EXON Missense_S1070L exm-rs1009806 1 19500551 [T/C] NM_020765 UBR4 Silent rs1009806 1 19500551 [T/C] NM_020765 UBR4 Silent rs6694521 1 19500729 [A/G] NM_020765 UBR4 Silent exm25465 1 19500830 [T/G] NM_020765 UBR4 EXON Missense_K989Q 1:19500857-GT 1 19500857 [T/G] NM_020765 UBR4 EXON Missense_L980I 1:19503157-CA 1 19503157 [A/C] NM_020765 UBR4 EXON Missense_R901L exm25481 1 19503181 [T/C] NM_020765 UBR4 EXON Missense_S893N exm1744194 1 19503185 [T/C] NM_020765 UBR4 EXON Missense_A892T 1:19503975-GA 1 19503975 [A/G] NM_020765 UBR4 EXON Missense_P873S exm25489 1 19504046 [T/C] NM_020765 UBR4 EXON Missense_R849H 1:19504047-GA 1 19504047 [A/G] NM_020765 UBR4 EXON Missense_R849C exm25490 1 19504062 [T/C] NM_020765 UBR4 EXON Missense_M844V 1:19504092-CA 1 19504092 [A/C] NM_020765 UBR4 EXON Missense_V834F exm25495 1 19504194 [A/G] NM_020765 UBR4 EXON Missense_P800S exm25497 1 19504227 [T/C] NM_020765 UBR4 EXON Missense_T789A rs12093186 1 19506031 [A/G] NM_020765 UBR4 Silent JHU_1.19507330 1 19507331 [T/C] NM_020765 UBR4 Silent rs146541451 1 19509207 [T/A] NM_020765 UBR4 Silent JHU_1.19510717 1 19510718 [T/C] NM_020765 UBR4 Silent 1:19511636-CA 1 19511636 [A/C] NM_020765 UBR4 EXON Missense_G632V 1:19511705-GA 1 19511705 [A/G] NM_020765 UBR4 EXON Missense_P609L 1:19512644-T-C 1 19512644 [T/C] NM_020765 UBR4 Silent 1:19513690-GA 1 19513690 [A/G] NM_020765 UBR4 EXON Missense_L534F chr1_19513738 1 19513738 [T/C] NM_020765 UBR4 EXON Missense_I518V exm25534 1 19518713 [A/C] NM_020765 UBR4 EXON Missense_V455L 1KG_1_19518754 1 19518754 [D/I] NM_020765 UBR4 EXON 1:19518983-CT 1 19518983 [T/C] NM_020765 UBR4 EXON Missense_G399S exm25554 1 19524224 [A/G] NM_020765 UBR4 EXON Missense_L278S 1:19524531-TC 1 19524531 [T/C] NM_020765 UBR4 EXON Missense_N221D exm25562 1 19525154 [A/C] NM_020765 UBR4 EXON Missense_A177S exm1744229 1 19525294 [A/G] NM_020765 UBR4 EXON Synonymous_D169D exm25564 1 19525376 [T/C] NM_020765 UBR4 EXON Missense_R142Q JHU_1.19526289 1 19526290 [T/C] NM_020765 UBR4 Silent Variant37747 1 19528276 [A/G] NM_020765 UBR4 EXON Synonymous_Y70Y JHU_1.19530223 1 19530224 [T/G] NM_020765 UBR4 Silent rs9426682 1 19533303 [A/G] NM_020765 UBR4 Silent JHU_1.19533355 1 19533356 [T/G] NM_020765 UBR4 Silent 1:19536585-AG 1 19536585 [A/G] NM_020765 UBR4 EXON Missense_V53A 1:19536643-GA 1 19536643 [A/G] NM_020765 UBR4 EXON Missense_R34W 1:19536738-GT 1 19536738 [T/G] NM_020765 UBR4 EXON Missense_A2E rs10158092 1 19537755 [A/C] NR_135114,NR_135115 LOC101927895,LOC101927895 Silent,Silent 1:19546175-GA 1 19546175 [A/G] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Silent,Missense_P875L,Missense_P896L,Missense_P896L,Missense_P897L rs201239769 1 19546189 [G/C] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Silent,Missense_E870D,Missense_E891D,Missense_E891D,Missense_E892D ilmnseq_rs869320624 1 19547308 [I/D] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON ilmnseq_rs869320626 1 19547328 [T/C] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Silent,Missense_G846R,Missense_G867R,Missense_G867R,Missense_G868R rs149691838 1 19547857 [T/C] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent,Silent rs2073105 1 19549864 [T/C] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent,Silent rs710871 1 19549989 [A/G] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Silent,Synonymous_I737I,Synonymous_I758I,Synonymous_I758I,Synonymous_I759I exm25630 1 19550017 [A/G] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Silent,Missense_A728V,Missense_A749V,Missense_A749V,Missense_A750V exm25631 1 19550018 [T/C] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Silent,Missense_A728T,Missense_A749T,Missense_A749T,Missense_A750T rs183885646 1 19550471 [A/G] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.19555271 1 19555272 [A/G] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent,Silent rs78138248 1 19555594 [T/G] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent,Silent rs3762395 1 19556408 [T/C] NR_135114,NR_135115,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Silent,Silent,Silent,Silent,Silent rs149861361 1 19557348 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R663Q,Missense_R684Q,Missense_R684Q,Missense_R685Q exm1744334 1 19557348 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R663Q,Missense_R684Q,Missense_R684Q,Missense_R685Q 1:19557394-AG 1 19557394 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_F648L,Missense_F669L,Missense_F669L,Missense_F670L rs2275402 1 19557394 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_F648L,Missense_F669L,Missense_F669L,Missense_F670L exm25642 1 19557424 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Nonsense_R638X,Nonsense_R659X,Nonsense_R659X,Nonsense_R660X exm25650 1 19557838 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R599C,Missense_R620C,Missense_R620C,Missense_R621C rs116784512 1 19557838 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R599C,Missense_R620C,Missense_R620C,Missense_R621C variant.1330 1 19557893 [A/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Nonsense_Y580X,Nonsense_Y601X,Nonsense_Y601X,Nonsense_Y602X exm25654 1 19557912 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_S574L,Missense_S595L,Missense_S595L,Missense_S596L variant.1331 1 19559428 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent chr1_19561723 1 19561723 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R423C,Missense_R444C,Missense_R444C,Missense_R445C rs117485576 1 19563553 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent rs16862632 1 19563900 [T/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent rs144713581 1 19564513 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R382W,Missense_R404W,Missense_R403W,Missense_R404W exm25678 1 19564513 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R382W,Missense_R404W,Missense_R403W,Missense_R404W exm25681 1 19564554 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_T368M,Missense_T390M,Missense_T389M,Missense_T390M exm25684 1 19564614 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_N348S,Missense_N370S,Missense_N369S,Missense_N370S rs10489533 1 19564846 [A/T] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent exm25689 1 19565320 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_M331T,Missense_M353T,Missense_M352T,Missense_M353T exm25690 1 19565338 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_S325N,Missense_S347N,Missense_S346N,Missense_S347N rs2273046 1 19566296 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent variant.1332 1 19566311 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent,Silent exm25697 1 19566340 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_T287M,Missense_T309M,Missense_T309M,Missense_T309M exm25701 1 19566382 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_L273S,Missense_L295S,Missense_L295S,Missense_L295S rs3850531 1 19566382 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_L273S,Missense_L295S,Missense_L295S,Missense_L295S 1:19566442-CT 1 19566442 [T/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_R253Q,Missense_R275Q,Missense_R275Q,Missense_R275Q exm25705 1 19566858 [A/G] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_P218L,Missense_P240L,Missense_P240L,Missense_P240L exm25706 1 19566860 [G/C] NR_135114,NM_001271429,NM_001271428,NM_001271427,NM_015047 LOC101927895,EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_D217E,Missense_D239E,Missense_D239E,Missense_D239E rs201096584 1 19567602 [T/C] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_G160S,Missense_G182S,Missense_G182S,Missense_G182S exm-rs710865 1 19568972 [A/G] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent rs710865 1 19568972 [A/G] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent 1:19570183-TC 1 19570183 [T/C] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_N80S,Missense_N102S,Missense_N102S,Missense_N102S ilmnseq_rs869320625 1 19570485 [A/G] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Silent,Missense_T82M,Missense_T82M,Missense_T82M variant.1334 1 19570511 [T/C] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent rs201537299 1 19571465 [T/C] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_K52R,Missense_K52R,Missense_K52R,Missense_K52R 1:19571516-TC 1 19571516 [T/C] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_Q35R,Missense_Q35R,Missense_Q35R,Missense_Q35R rs75373366 1 19571586 [T/C] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent exm25751 1 19577943 [T/C] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_A21T,Missense_A21T,Missense_A21T,Missense_A21T chr1_19577982 1 19577982 [A/G] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_R8C,Missense_R8C,Missense_R8C,Missense_R8C 1:19577999-GA 1 19577999 [A/G] NM_001271429,NM_001271428,NM_001271427,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_A2V,Missense_A2V,Missense_A2V,Missense_A2V rs2294942 1 19578192 [A/G] NM_016183 MRTO4 EXON Silent rs761307 1 19581688 [T/C] NM_016183 MRTO4 Silent 1:19582545-GA 1 19582545 [A/G] NM_016183 MRTO4 EXON Missense_R64Q JHU_1.19583293 1 19583294 [A/G] NM_016183 MRTO4 Silent exm25778 1 19583602 [A/G] NM_016183 MRTO4 EXON Missense_R79Q rs1126682 1 19583636 [T/C] NM_016183 MRTO4 EXON Synonymous_H90H exm25784 1 19583991 [A/G] NM_016183 MRTO4 EXON Missense_N106S exm25785 1 19583994 [A/G] NM_016183 MRTO4 EXON Missense_R107H rs1042380 1 19584004 [A/G] NM_016183 MRTO4 EXON Synonymous_E110E exm25790 1 19584327 [A/G] NM_016183 MRTO4 EXON Synonymous_E114E exm25791 1 19584329 [C/G] NM_016183 MRTO4 EXON Missense_W115S exm25808 1 19584997 [A/G] NM_016183 MRTO4 EXON Missense_E174K exm25814 1 19585190 [C/G] NM_016183 MRTO4 EXON Missense_E196Q exm25822 1 19585276 [C/G] NM_016183 MRTO4 EXON Missense_E224D 1:19585280-GA 1 19585280 [A/G] NM_016183 MRTO4 EXON Missense_A226T rs7551095 1 19586684 [A/G] rs4912059 1 19587164 [T/G] JHU_1.19588502 1 19588503 [A/G] JHU_1.19589699 1 19589700 [T/C] JHU_1.19592537 1 19592538 [A/G] NR_040289,NM_001348421,NR_040288 AKR7L,AKR7L,AKR7L EXON Silent,Silent,Silent rs7527253 1 19593199 [T/C] NR_040289,NM_001348421,NR_040288 AKR7L,AKR7L,AKR7L EXON Silent,Silent,Silent 1:19593826-AC 1 19593826 [A/C] NR_040289,NM_001348421,NR_040288 AKR7L,AKR7L,AKR7L EXON Silent,Missense_F322V,Silent 1:19595194-AG 1 19595194 [A/G] NR_040289,NM_001348421,NR_040288 AKR7L,AKR7L,AKR7L EXON Silent,Missense_F236L,Silent 1:19595196-CT 1 19595196 [T/C] NR_040289,NM_001348421,NR_040288 AKR7L,AKR7L,AKR7L Silent,Silent,Silent 1:19597267-CT 1 19597267 [T/C] NR_040289,NM_001348421,NR_040288 AKR7L,AKR7L,AKR7L EXON Silent,Missense_R126H,Silent 1:19597275-TC-T 1 19597275 [D/I] NR_040289,NM_001348421,NR_040288 AKR7L,AKR7L,AKR7L EXON rs56743936 1 19598828 [A/G] NR_040289,NM_001348421,NR_040288 AKR7L,AKR7L,AKR7L Silent,Silent,Silent rs4912064 1 19602979 [T/G] 1:19609254-TC 1 19609254 [T/C] NM_012067 AKR7A3 EXON Missense_T323A exm25899 1 19609262 [T/C] NM_012067 AKR7A3 EXON Missense_H320R 1:19609287-CT 1 19609287 [T/C] NM_012067 AKR7A3 EXON Missense_V312M rs145104812 1 19609295 [A/G] NM_012067 AKR7A3 EXON Missense_P309L JHU_1.19611226 1 19611227 [A/G] NM_012067 AKR7A3 EXON Synonymous_P219P exm25930 1 19611267 [A/G] NM_012067 AKR7A3 EXON Missense_T206I 1:19611537-CA 1 19611537 [A/C] NM_012067 AKR7A3 EXON Missense_R193S rs144024296 1 19611537 [A/C] NM_012067 AKR7A3 EXON Missense_R193S exm25939 1 19611583 [T/C] NM_012067 AKR7A3 EXON Missense_Q178R 1:19611587-GA 1 19611587 [A/G] NM_012067 AKR7A3 EXON Missense_R177W 1:19611598-TC 1 19611598 [T/C] NM_012067 AKR7A3 EXON Missense_N173S 1:19612774-GA 1 19612774 [A/G] NM_012067 AKR7A3 EXON Nonsense_Q103X 1:19612807-GA 1 19612807 [A/G] NM_012067 AKR7A3 EXON Missense_R92W 1:19615084-GT 1 19615084 [T/G] NM_012067 AKR7A3 EXON Missense_H40Q rs3207843 1 19619973 [A/G] NR_037847 LOC100506730 EXON Silent JHU_1.19626105 1 19626106 [T/C] rs12407355 1 19627876 [T/C] rs12132200 1 19627931 [T/C] rs12407385 1 19628164 [T/C] JHU_1.19629185 1 19629186 [T/A] rs72651448 1 19630293 [G/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Silent,Silent 1:19630785-AC 1 19630785 [A/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Synonymous_A303A,Synonymous_A338A 1:19630812-TC 1 19630812 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Synonymous_A294A,Synonymous_A329A exm2268658 1 19632332 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 Silent,Silent rs79772073 1 19632552 [A/G] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_S258L,Missense_S293L 1:19632569-GA 1 19632569 [A/G] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Synonymous_S252S,Synonymous_S287S exm25999 1 19633520 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_S220N,Missense_S255N rs115276777 1 19633811 [A/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_A194S,Missense_A229S 1:19633811-CA 1 19633811 [A/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_A194S,Missense_A229S 1:19633883-GA 1 19633883 [A/G] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_R170W,Missense_R205W rs200402102 1 19633883 [A/G] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_R170W,Missense_R205W 1:19634606-TG 1 19634606 [T/G] NM_001320979,NM_003689 AKR7A2,AKR7A2 Silent,Silent 1:19634630-GC-G 1 19634630 [D/I] NM_001320979,NM_003689 AKR7A2,AKR7A2 1:19634737-CT 1 19634737 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Silent,Missense_G169D rs1043657 1 19635011 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_A142T,Missense_A142T exm26034 1 19635011 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_A142T,Missense_A142T exm26037 1 19635032 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_V135M,Missense_V135M rs141532320 1 19635068 [C/G] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_L123V,Missense_L123V rs201135912 1 19635112 [A/G] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_P108L,Missense_P108L 1:19635112-GA 1 19635112 [A/G] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_P108L,Missense_P108L rs3762394 1 19636169 [A/G] NM_001320979,NM_003689 AKR7A2,AKR7A2 Silent,Silent JHU_1.19637247 1 19637248 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 Silent,Silent rs117260946 1 19637339 [C/G] NM_001320979,NM_003689 AKR7A2,AKR7A2 Silent,Silent 1:19638419-CT 1 19638419 [T/C] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_G67D,Missense_G67D 1:19638438-GT 1 19638438 [T/G] NM_001320979,NM_003689 AKR7A2,AKR7A2 EXON Missense_R61S,Missense_R61S rs859218 1 19640676 [T/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent rs2073098 1 19642326 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent JHU_1.19642486 1 19642487 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent exm26063 1 19644218 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Silent,Missense_S16N,Silent,Missense_S16N,Silent 1:19645374-T-G 1 19645374 [T/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent rs4912069 1 19645673 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent rs185869407 1 19646938 [A/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent rs3790775 1 19650220 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent 1:19651224-GA 1 19651224 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_G23S,Missense_G88S,Silent,Missense_G88S,Silent chr1_19651231 1 19651231 [T/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_F25S,Missense_F90S,Silent,Missense_F90S,Silent JHU_1.19651968 1 19651969 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent rs183325271 1 19652490 [T/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent exm26086 1 19652766 [T/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_L72S,Missense_L137S,Missense_L26S,Missense_L137S,Silent 1:19652772-TC 1 19652772 [T/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_L74P,Missense_L139P,Missense_L28P,Missense_L139P,Silent exm26088 1 19652789 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_A80T,Missense_A145T,Missense_A34T,Missense_A145T,Silent exm26095 1 19652874 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_G108D,Missense_G173D,Missense_G62D,Missense_G173D,Silent 1:19653076-GA 1 19653076 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_V128M,Missense_V193M,Missense_V82M,Missense_V193M,Silent 1:19653109-CT 1 19653109 [T/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_R139C,Missense_R204C,Missense_R93C,Missense_R204C,Silent rs74827047 1 19653358 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent exm26106 1 19653802 [G/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_V169L,Missense_V234L,Missense_V123L,Missense_V234L,Silent 1:19653834-CA 1 19653834 [A/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_S179R,Missense_S244R,Missense_S133R,Missense_S244R,Silent rs7543391 1 19654112 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent rs373500102 1 19654860 [T/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 Silent,Silent,Silent,Silent,Silent 1:19655109-CT 1 19655109 [T/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_S218L,Missense_S283L,Missense_S172L,Missense_S283L,Silent 1:19655135-TC 1 19655135 [T/C] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Missense_X227R,Missense_X292R,Missense_X181R,Missense_X292R,Silent JHU_1.19655303 1 19655304 [A/G] NM_001040126,NM_001040125,NM_001287531,NM_017765,NR_109848 PQLC2,PQLC2,PQLC2,PQLC2,PQLC2 EXON Silent,Silent,Silent,Silent,Silent rs117671478 1 19656611 [T/C] NR_109848 PQLC2 Silent rs147679551 1 19658748 [T/C] NR_109848 PQLC2 EXON Silent JHU_1.19660428 1 19660429 [A/C] rs79180207 1 19660858 [T/G] JHU_1.19665456 1 19665457 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB EXON Silent,Silent,Silent,Silent rs35449578 1 19666462 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs2268813 1 19666808 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs6666423 1 19669127 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs118112042 1 19669252 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB EXON Silent,Silent,Silent,Silent exm26119 1 19670861 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB EXON Missense_N241S,Missense_N241S,Silent,Missense_N270S rs138529514 1 19670884 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB EXON Synonymous_F233F,Synonymous_F233F,Silent,Synonymous_F262F rs4912072 1 19672376 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs214327 1 19674070 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent JHU_1.19674959 1 19674960 [G/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent JHU_1.19675256 1 19675257 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent JHU_1.19676263 1 19676264 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent JHU_1.19676513 1 19676514 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs78960518 1 19676679 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs214336 1 19678473 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs2268806 1 19679382 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent JHU_1.19680390 1 19680391 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent JHU_1.19680423 1 19680424 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs12751502 1 19680532 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs59980977 1 19681628 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent 1:19683957-ATCT-A 1 19683957 [D/I] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB EXON rs873362 1 19685029 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent JHU_1.19685166 1 19685167 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent 1:19687308-A-G 1 19687308 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs145145332 1 19688008 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs115036561 1 19696988 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent rs72651486 1 19702183 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs377133553 1 19706615 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs6663076 1 19706751 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs34542888 1 19709196 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs181581865 1 19711186 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent newrs74941542 1 19712215 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs1472566 1 19713004 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19713778 1 19713779 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs113515663 1 19717338 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19718157 1 19718158 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs7667 1 19718824 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19719737 1 19719738 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs7513800 1 19725033 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19725908 1 19725909 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs79120044 1 19726315 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19729593 1 19729594 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs4912086 1 19730181 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs7515937 1 19730346 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10917445 1 19732536 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10158076 1 19736071 [C/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs12026907 1 19738518 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs139616559 1 19743782 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs112145116 1 19744280 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent 1:19746180-TG 1 19746180 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB EXON Missense_K23T,Missense_K23T,Missense_K49T,Missense_K52T,Missense_K23T 1:19746241-CA 1 19746241 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB EXON Missense_D3Y,Missense_D3Y,Missense_D29Y,Missense_D32Y,Missense_D3Y JHU_1.19752068 1 19752069 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19752939 1 19752940 [G/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs6661421 1 19755204 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs35542350 1 19756653 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19756705 1 19756706 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs116393108 1 19756706 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs75677337 1 19759298 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19761428 1 19761429 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19763130 1 19763131 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent exm-rs12045440 1 19765518 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs12045440 1 19765518 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs12754186 1 19766326 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs7519931 1 19768845 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19768995 1 19768996 [A/T] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10917452 1 19770968 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs877012 1 19772660 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10492998 1 19772847 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19774945 1 19774946 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs4912096 1 19775113 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent 1:19775347-CT 1 19775347 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB EXON Silent,Silent,Missense_C21Y,Silent,Silent exm26147 1 19775375 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB EXON Silent,Silent,Missense_R12C,Silent,Silent rs1546264 1 19775566 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB EXON Silent,Silent,Silent,Silent,Silent rs11589517 1 19779053 [G/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs3913439 1 19780509 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19784165 1 19784166 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19785702 1 19785703 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10799814 1 19785911 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs76393470 1 19787516 [G/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent 1:19787837-C-T 1 19787837 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs188767968 1 19789252 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19789696 1 19789697 [G/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs115024302 1 19789721 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs4481878 1 19791086 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10917454 1 19795851 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19796236 1 19796237 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs4912100 1 19798007 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19798086 1 19798087 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs4912103 1 19799010 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19804653 1 19804654 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10799817 1 19805997 [C/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs11580551 1 19806031 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs924519 1 19806259 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10917459 1 19806692 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent exm2259924 1 19806692 [T/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19808827 1 19808828 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent JHU_1.19809001 1 19809002 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs6703356 1 19809066 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs6664461 1 19809171 [T/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent rs10917461 1 19809758 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent,Silent 1:19810687-AC 1 19810687 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB EXON Silent,Silent,Silent,Missense_D29E,Silent 1:19810743-GA 1 19810743 [A/G] NM_001206540,NM_004930,NM_001206541,NM_001282162,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB,CAPZB EXON Silent,Silent,Silent,Missense_P11S,Silent rs66657441 1 19811652 [A/C] NM_001206540,NM_004930,NM_001206541,NM_001313932 CAPZB,CAPZB,CAPZB,CAPZB Silent,Silent,Silent,Silent JHU_1.19819059 1 19819060 [A/T] rs60523880 1 19819174 [A/C] rs1995309 1 19819249 [G/C] JHU_1.19821532 1 19821533 [A/G] JHU_1.19821597 1 19821598 [A/T] rs117221144 1 19821716 [T/C] rs2314146 1 19824008 [A/G] JHU_1.19826071 1 19826072 [A/G] JHU_1.19827252 1 19827253 [T/C] rs11807599 1 19831939 [T/C] rs74998309 1 19832399 [A/C] rs12084204 1 19832567 [T/C] rs117585822 1 19835290 [A/G] JHU_1.19836520 1 19836521 [T/G] rs78929567 1 19838496 [A/G] rs10799824 1 19841174 [A/G] rs10917468 1 19843354 [T/C] exm-rs10917468 1 19843354 [T/C] rs59793343 1 19844685 [A/G] rs9783019 1 19849656 [A/G] JHU_1.19854721 1 19854722 [A/G] JHU_1.19855450 1 19855451 [T/G] rs78846652 1 19859188 [A/T] rs147934508 1 19859257 [G/C] rs4912110 1 19861027 [T/C] rs10917477 1 19861106 [A/G] rs139542497 1 19862027 [T/C] JHU_1.19862333 1 19862334 [A/G] rs4912112 1 19866724 [T/A] rs10917486 1 19868459 [A/C] JHU_1.19875929 1 19875930 [A/T] rs4912122 1 19876438 [A/G] rs115982904 1 19880747 [G/C] rs4912126 1 19881386 [T/C] rs10799826 1 19881693 [A/G] rs72656036 1 19886273 [A/T] JHU_1.19889475 1 19889476 [T/C] rs1572823 1 19889959 [T/C] rs75061720 1 19892021 [T/A] rs193171340 1 19895157 [T/G] rs2792029 1 19899537 [A/C] JHU_1.19900132 1 19900133 [A/G] JHU_1.19902354 1 19902355 [T/C] JHU_1.19904028 1 19904029 [A/G] JHU_1.19905434 1 19905435 [T/C] JHU_1.19914099 1 19914100 [A/G] 1:19914255-C-A 1 19914255 [A/C] rs72656047 1 19918671 [A/G] NR_135054 LOC105378614 Silent rs1737416 1 19922387 [T/C] NR_135054 LOC105378614 Silent rs78735189 1 19926432 [T/C] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.19935668 1 19935669 [A/T] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1770489 1 19945189 [A/G] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1320978 1 19947973 [A/G] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:19950064-GA 1 19950064 [A/G] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 EXON Silent,Missense_G54E,Silent,Silent,Missense_G70E,Missense_G70E,Silent 1:19952064-CT 1 19952064 [T/C] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 EXON Silent,Silent,Silent,Silent,Silent,Missense_S134L,Silent exm1745453 1 19952887 [T/G] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 EXON Silent,Nonsense_E61X,Silent,Silent,Nonsense_E77X,Silent,Silent rs2281237 1 19953165 [A/G] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs880554 1 19954014 [T/G] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs117875397 1 19956073 [T/C] NM_001204089,NM_001204082,NM_001204088,NR_033758,NM_001032363,NM_001204083,NR_033757 MINOS1-NBL1,MINOS1,MINOS1-NBL1,MINOS1,MINOS1,MINOS1,MINOS1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2792061 1 19958729 [A/G] NM_001204089,NM_001204088 MINOS1-NBL1,MINOS1-NBL1 Silent,Silent rs75519061 1 19962584 [T/C] NM_001204089,NM_001204088 MINOS1-NBL1,MINOS1-NBL1 Silent,Silent rs7523079 1 19962874 [T/C] NM_001204089,NM_001204088 MINOS1-NBL1,MINOS1-NBL1 Silent,Silent rs72656078 1 19967905 [T/C] NM_001204089,NM_001204088 MINOS1-NBL1,MINOS1-NBL1 Silent,Silent JHU_1.19971237 1 19971238 [A/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:19972453-CA 1 19972453 [A/C] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S3R rs3828100 1 19972826 [A/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs114669249 1 19974040 [C/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.19974793 1 19974794 [T/C] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.19974980 1 19974981 [T/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.19975016 1 19975017 [T/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.19975209 1 19975210 [A/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3790745 1 19975333 [A/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1115163 1 19976782 [A/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs78869581 1 19978957 [G/C] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs61114955 1 19980328 [C/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72656086 1 19981313 [T/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm26180 1 19981530 [T/C] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 EXON Missense_L3F,Missense_L17F,Missense_L3F,Missense_L38F,Missense_L3F,Missense_L3F,Missense_L3F,Missense_L3F,Missense_L37F,Missense_L3F 1:19983389-GA 1 19983389 [A/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 EXON Missense_V105M,Missense_V119M,Missense_V105M,Missense_V140M,Missense_V105M,Missense_V105M,Missense_V105M,Missense_V105M,Missense_V139M,Missense_V105M exm26195 1 19983491 [A/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 EXON Missense_E139K,Missense_E153K,Missense_E139K,Missense_E174K,Missense_E139K,Missense_E139K,Missense_E139K,Missense_E139K,Missense_E173K,Missense_E139K 1:19983501-CT 1 19983501 [T/C] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 EXON Missense_P142L,Missense_P156L,Missense_P142L,Missense_P177L,Missense_P142L,Missense_P142L,Missense_P142L,Missense_P142L,Missense_P176L,Missense_P142L rs115829688 1 19984808 [A/G] NM_001204089,NM_001204088,NM_001278164,NM_182744,NM_001278165,NM_001204084,NM_005380,NM_001204085,NM_001204086,NM_001278166 MINOS1-NBL1,MINOS1-NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1,NBL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34403938 1 19985629 [C/G] rs58138946 1 19985667 [A/G] rs6693503 1 19987294 [A/G] JHU_1.19989109 1 19989110 [T/G] 1:19992278-GA 1 19992278 [A/G] NM_000871 HTR6 EXON Missense_S11N 1:19992353-TC 1 19992353 [T/C] NM_000871 HTR6 EXON Missense_V36A exm26216 1 19992380 [C/G] NM_000871 HTR6 EXON Missense_S45W 1:19992506-CT 1 19992506 [T/C] NM_000871 HTR6 EXON Missense_A87V exm2250466 1 19992510 [A/G] NM_000871 HTR6 EXON Synonymous_L88L 1:19992511-TC 1 19992511 [T/C] NM_000871 HTR6 EXON Missense_Y89H rs149505172 1 19992511 [T/C] NM_000871 HTR6 EXON Missense_Y89H rs1805054 1 19992513 [T/C] NM_000871 HTR6 EXON Synonymous_Y89Y 1:19992599-GA 1 19992599 [A/G] NM_000871 HTR6 EXON Missense_C118Y rs201695962 1 19992673 [T/G] NM_000871 HTR6 EXON Missense_A143S JHU_1.19995528 1 19995529 [T/C] NM_000871 HTR6 Silent rs72961757 1 19997463 [T/C] NM_000871 HTR6 Silent rs115080938 1 19998903 [A/C] NM_000871 HTR6 Silent rs6699866 1 19999645 [A/C] NM_000871 HTR6 Silent rs79608109 1 20001597 [A/G] NM_000871 HTR6 Silent rs9659997 1 20002518 [T/C] NM_000871 HTR6 Silent JHU_1.20002681 1 20002682 [A/G] NM_000871 HTR6 Silent newrs140928691 1 20005219 [A/G] NM_000871 HTR6 Silent exm2232178 1 20005457 [T/C] NM_000871 HTR6 EXON Missense_W307R exm26248 1 20005463 [T/G] NM_000871 HTR6 EXON Missense_G309C exm2250468 1 20005528 [A/G] NM_000871 HTR6 EXON Synonymous_A330A exm26264 1 20005661 [A/C] NM_000871 HTR6 EXON Missense_P375T 1:20005662-CT 1 20005662 [T/C] NM_000871 HTR6 EXON Missense_P375L 1:20005665-CT 1 20005665 [T/C] NM_000871 HTR6 EXON Missense_P376L 1:20005677-CT 1 20005677 [T/C] NM_000871 HTR6 EXON Missense_S380L 1:20005715-CT 1 20005715 [T/C] NM_000871 HTR6 EXON Missense_R393W 1:20005722-CT 1 20005722 [T/C] NM_000871 HTR6 EXON Missense_T395M JHU_1.20005788 1 20005789 [T/C] NM_000871 HTR6 EXON Synonymous_A417A 1:20005829-CT 1 20005829 [T/C] NM_000871 HTR6 EXON Missense_R431W exm26281 1 20005854 [T/C] NM_000871 HTR6 EXON Missense_T439M rs9064 1 20008880 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Silent,Silent,Silent,Silent exm26299 1 20009745 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_P565S,Missense_P565S,Missense_P565S,Missense_P565S 1:20009774-GA 1 20009774 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_T555I,Missense_T555I,Missense_T555I,Missense_T555I exm26311 1 20009849 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G530E,Missense_G530E,Missense_G530E,Missense_G530E JHU_1.20011833 1 20011834 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs7533981 1 20014739 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20015813 1 20015814 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20017358 1 20017359 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20018090 1 20018091 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20018095 1 20018096 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs3748748 1 20018195 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs1883567 1 20020466 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent exm26319 1 20020986 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G481S,Missense_G481S,Missense_G481S,Missense_G481S exm26323 1 20020994 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R478H,Missense_R478H,Missense_R478H,Missense_R478H rs4515815 1 20020994 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R478H,Missense_R478H,Missense_R478H,Missense_R478H exm26327 1 20021022 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_V469M,Missense_V469M,Missense_V469M,Missense_V469M 1:20021024-GAA-G 1 20021024 [I/D] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON rs142007328 1 20021055 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs60159774 1 20021288 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs4244007 1 20022063 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs3934193 1 20026354 [A/T] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20026757 1 20026758 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20026900 1 20026901 [C/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20026961 1 20026962 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20027048 1 20027049 [A/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs79496233 1 20027237 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent 1:20027268-AG 1 20027268 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_Y459H,Missense_Y459H,Missense_Y459H,Missense_Y459H exm2232181 1 20027271 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G458S,Missense_G458S,Missense_G458S,Missense_G458S 1:20027295-CA 1 20027295 [A/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_V450L,Missense_V450L,Missense_V450L,Missense_V450L exm26335 1 20027339 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_A435V,Missense_A435V,Missense_A435V,Missense_A435V exm26337 1 20027355 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_V430I,Missense_V430I,Missense_V430I,Missense_V430I rs10737480 1 20027423 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs74056973 1 20027538 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs79839140 1 20029388 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs6657561 1 20030565 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs10917522 1 20032226 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs55922021 1 20033587 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs3885191 1 20034106 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs4912019 1 20036890 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs35721361 1 20037489 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs78737953 1 20037524 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs11589338 1 20041973 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20045157 1 20045158 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20047500 1 20047501 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20048719 1 20048720 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs77277881 1 20049338 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs55996790 1 20049819 [C/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs3929669 1 20052348 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs75417062 1 20053251 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs58643191 1 20055266 [A/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs4486471 1 20056631 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent exm2268659 1 20056631 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20058522 1 20058523 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20059245 1 20059246 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20060964 1 20060965 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20060998 1 20060999 [A/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20061387 1 20061388 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs1002103 1 20061862 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent exm2275320 1 20063896 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Nonsense_Y411X,Nonsense_Y411X,Nonsense_Y411X,Nonsense_Y411X exm26344 1 20063936 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_V398A,Missense_V398A,Missense_V398A,Missense_V398A JHU_1.20064213 1 20064214 [A/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent 1:20066374-GGA-G 1 20066374 [I/D] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON chr1_20066387 1 20066387 [A/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_W370L,Missense_W370L,Missense_W370L,Missense_W370L exm26352 1 20066405 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_N364S,Missense_N364S,Missense_N364S,Missense_N364S chr1_20066448 1 20066448 [A/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_V350L,Missense_V350L,Missense_V350L,Missense_V350L rs6426825 1 20066490 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent 1:20067282-TC 1 20067282 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_T344A,Missense_T344A,Missense_T344A,Missense_T344A exm26359 1 20067299 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_Q338R,Missense_Q338R,Missense_Q338R,Missense_Q338R exm26360 1 20067320 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G331D,Missense_G331D,Missense_G331D,Missense_G331D 1:20067395-CT 1 20067395 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R306H,Missense_R306H,Missense_R306H,Missense_R306H exm1745663 1 20067396 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R306C,Missense_R306C,Missense_R306C,Missense_R306C JHU_1.20068651 1 20068652 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs71645465 1 20069157 [A/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent JHU_1.20069156 1 20069157 [A/C] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs75792533 1 20069775 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113 TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent rs1047571 1 20069862 [G/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Silent,Silent,Silent,Silent,Silent exm26367 1 20072025 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R293C,Missense_R293C,Missense_R293C,Missense_R293C,Missense_R293C 1:20072033-CT 1 20072033 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G290D,Missense_G290D,Missense_G290D,Missense_G290D,Missense_G290D exm26370 1 20072058 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_A282T,Missense_A282T,Missense_A282T,Missense_A282T,Missense_A282T exm26373 1 20072082 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G274S,Missense_G274S,Missense_G274S,Missense_G274S,Missense_G274S exm26376 1 20072127 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Nonsense_R259X,Nonsense_R259X,Nonsense_R259X,Nonsense_R259X,Nonsense_R259X exm26385 1 20073044 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_T221M,Missense_T221M,Missense_T221M,Missense_T221M,Missense_T221M exm1745680 1 20073053 [A/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G218V,Missense_G218V,Missense_G218V,Missense_G218V,Missense_G218V exm26386 1 20073057 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_A217T,Missense_A217T,Missense_A217T,Missense_A217T,Missense_A217T variant.1379 1 20073655 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent 1:20073656-CT 1 20073656 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_G205S,Missense_G205S,Missense_G205S,Missense_G205S,Missense_G205S exm26394 1 20073700 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_Y190C,Missense_Y190C,Missense_Y190C,Missense_Y190C,Missense_Y190C exm26395 1 20073703 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R189H,Missense_R189H,Missense_R189H,Missense_R189H,Missense_R189H chr1_20073710 1 20073710 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_W187R,Missense_W187R,Missense_W187R,Missense_W187R,Missense_W187R exm26396 1 20073719 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R184W,Missense_R184W,Missense_R184W,Missense_R184W,Missense_R184W variant.1381 1 20073737 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Nonsense_R178X,Nonsense_R178X,Nonsense_R178X,Nonsense_R178X,Nonsense_R178X rs17378010 1 20078134 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs76180543 1 20079165 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs1473689 1 20080310 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent JHU_1.20081514 1 20081515 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent exm26403 1 20082209 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_L145F,Missense_L145F,Missense_L145F,Missense_L145F,Missense_L145F exm26405 1 20082230 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_V138I,Missense_V138I,Missense_V138I,Missense_V138I,Missense_V138I exm26406 1 20082247 [G/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_A132G,Missense_A132G,Missense_A132G,Missense_A132G,Missense_A132G rs10917532 1 20082849 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs1473688 1 20087406 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs71645468 1 20088161 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs61768300 1 20089410 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs74058631 1 20091524 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs140434771 1 20092670 [A/T] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs79053030 1 20092847 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs1266438 1 20096176 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs148945927 1 20097113 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent exm26412 1 20097817 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_P113L,Missense_P113L,Missense_P113L,Missense_P113L,Missense_P113L 1:20097892-GA 1 20097892 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_A88V,Missense_A88V,Missense_A88V,Missense_A88V,Missense_A88V exm26418 1 20097941 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_Q72K,Missense_Q72K,Missense_Q72K,Missense_Q72K,Missense_Q72K JHU_1.20098450 1 20098451 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs6426826 1 20101034 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs1266446 1 20105304 [A/T] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent exm26419 1 20107076 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_H59R,Missense_H59R,Missense_H59R,Missense_H59R,Missense_H59R 1:20107127-TC 1 20107127 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_Y42C,Missense_Y42C,Missense_Y42C,Missense_Y42C,Missense_Y42C exm26426 1 20107136 [C/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_R39P,Missense_R39P,Missense_R39P,Missense_R39P,Missense_R39P exm26430 1 20107218 [C/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 EXON Missense_P12A,Missense_P12A,Missense_P12A,Missense_P12A,Missense_P12A JHU_1.20110428 1 20110429 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs4655161 1 20111440 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs60116217 1 20112407 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs74594071 1 20113984 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent JHU_1.20114767 1 20114768 [T/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs72658541 1 20118679 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent JHU_1.20120247 1 20120248 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent JHU_1.20122915 1 20122916 [A/G] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent rs12401541 1 20124716 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent JHU_1.20125539 1 20125540 [T/C] NM_001349114,NM_181719,NM_001349112,NM_001349113,NM_001349115 TMCO4,TMCO4,TMCO4,TMCO4,TMCO4 Silent,Silent,Silent,Silent,Silent JHU_1.20126817 1 20126818 [A/G] rs2314757 1 20131771 [T/C] rs10799838 1 20135822 [T/C] rs7513083 1 20138121 [T/C] JHU_1.20138149 1 20138150 [A/G] rs7513369 1 20138436 [A/C] JHU_1.20139889 1 20139890 [A/G] exm-rs1317209 1 20140036 [A/G] rs1317209 1 20140036 [A/G] rs3820317 1 20140581 [T/C] NM_019062 RNF186 EXON Silent rs41264107 1 20140622 [T/C] NM_019062 RNF186 EXON Silent exm26438 1 20140974 [T/C] NM_019062 RNF186 EXON Nonsense_W207X exm1746264 1 20141059 [T/C] NM_019062 RNF186 EXON Missense_R179Q exm26442 1 20141060 [A/G] NM_019062 RNF186 EXON Nonsense_R179X 1:20141068-AC-A 1 20141068 [D/I] NM_019062 RNF186 EXON 1:20141071-GA 1 20141071 [A/G] NM_019062 RNF186 EXON Missense_P175L 1:20141125-GA 1 20141125 [A/G] NM_019062 RNF186 EXON Missense_A157V exm26453 1 20141138 [A/G] NM_019062 RNF186 EXON Missense_R153W chr1_20141167 1 20141167 [T/C] NM_019062 RNF186 EXON Missense_D143G exm2232242 1 20141180 [C/G] NM_019062 RNF186 EXON Missense_E139Q 1:20141215-GA 1 20141215 [A/G] NM_019062 RNF186 EXON Missense_A127V 1:20141257-CT 1 20141257 [T/C] NM_019062 RNF186 EXON Missense_C113Y 1:20141292-GT 1 20141292 [T/G] NM_019062 RNF186 EXON Missense_D101E 1:20141297-GA 1 20141297 [A/G] NM_019062 RNF186 EXON Missense_R100C 1:20141338-CT 1 20141338 [T/C] NM_019062 RNF186 EXON Missense_R86H 1:20141390-GA 1 20141390 [A/G] NM_019062 RNF186 EXON Missense_L69F exm26474 1 20141405 [T/C] NM_019062 RNF186 EXON Missense_A64T exm26476 1 20141418 [A/C] NM_019062 RNF186 EXON Missense_Q59H 1:20141444-CG-C 1 20141444 [D/I] NM_019062 RNF186 EXON exm26481 1 20141464 [T/C] NM_019062 RNF186 EXON Missense_R44Q exm26482 1 20141465 [A/G] NM_019062 RNF186 EXON Missense_R44W exm26484 1 20141528 [T/C] NM_019062 RNF186 EXON Missense_A23T exm26485 1 20141552 [T/C] NM_019062 RNF186 EXON Missense_A15T rs12064796 1 20141920 [A/G] rs3806310 1 20142681 [A/G] rs3806308 1 20142866 [T/C] exm-rs3806308 1 20142866 [T/C] rs3806307 1 20143074 [T/C] rs17396847 1 20144332 [A/G] rs9651026 1 20146417 [A/G] JHU_1.20146542 1 20146543 [T/C] JHU_1.20147465 1 20147466 [G/C] JHU_1.20147977 1 20147978 [T/C] rs10799839 1 20148249 [T/C] rs141899365 1 20148734 [A/C] rs115097356 1 20150563 [A/G] rs4655232 1 20150998 [A/G] rs12076332 1 20151082 [A/G] rs370945645 1 20152999 [A/G] rs4509550 1 20158241 [T/C] JHU_1.20160716 1 20160717 [A/G] rs12137268 1 20162742 [T/C] rs78419171 1 20164118 [T/G] rs115049921 1 20167296 [A/G] JHU_1.20170094 1 20170095 [T/C] rs117804131 1 20170570 [T/C] rs6426833 1 20171860 [A/G] rs10917557 1 20173263 [A/G] rs10737482 1 20173858 [T/C] rs12145220 1 20175112 [T/G] rs79607451 1 20179042 [A/C] JHU_1.20180216 1 20180217 [A/C] JHU_1.20182254 1 20182255 [T/C] rs6690967 1 20183342 [T/C] rs12117495 1 20183445 [A/G] rs59530074 1 20185496 [T/C] rs16823060 1 20188458 [T/G] rs4654897 1 20191436 [T/C] rs75858680 1 20193163 [A/G] JHU_1.20196026 1 20196027 [T/G] rs78023494 1 20198818 [T/C] rs4654903 1 20200990 [A/G] rs16823081 1 20203465 [T/C] rs146914537 1 20208706 [T/C] rs878235 1 20208825 [G/C] 1:20209136-TGGC-T 1 20209136 [D/I] NM_015207 OTUD3 EXON rs75341433 1 20214326 [A/G] NM_015207 OTUD3 Silent exm26500 1 20216965 [G/C] NM_015207 OTUD3 EXON Missense_M103I 1:20216975-CT 1 20216975 [T/C] NM_015207 OTUD3 EXON Missense_R107W rs61769072 1 20218236 [A/T] NM_015207 OTUD3 Silent JHU_1.20218404 1 20218405 [T/C] NM_015207 OTUD3 Silent JHU_1.20219432 1 20219433 [T/C] NM_015207 OTUD3 Silent rs78183588 1 20223006 [A/C] NM_015207 OTUD3 Silent rs79825719 1 20223309 [G/C] NM_015207 OTUD3 Silent rs74998126 1 20223721 [T/A] NM_015207 OTUD3 Silent exm26507 1 20224085 [A/G] NM_015207 OTUD3 EXON Missense_Y179C exm26508 1 20224118 [A/G] NM_015207 OTUD3 EXON Missense_N190S exm-rs4654925 1 20227723 [C/G] NM_015207 OTUD3 Silent rs4654925 1 20227723 [C/G] NM_015207 OTUD3 Silent 1:20231448-CT 1 20231448 [T/C] NM_015207 OTUD3 EXON Missense_A268V 1:20232952-GA 1 20232952 [A/G] NM_015207 OTUD3 EXON Missense_G288D exm1746649 1 20232954 [T/C] NM_015207 OTUD3 EXON Nonsense_R289X exm26519 1 20233051 [A/G] NM_015207 OTUD3 EXON Missense_N321S exm26522 1 20233086 [A/G] NM_015207 OTUD3 EXON Missense_A333T exm26525 1 20234082 [A/G] NM_015207 OTUD3 EXON Missense_R347Q 1:20234100-GAGA-G 1 20234100 [I/D] NM_015207 OTUD3 EXON 1:20234179-CA 1 20234179 [A/C] NM_015207 OTUD3 EXON Missense_S379R exm26530 1 20234222 [A/G] NM_015207 OTUD3 EXON Missense_A394T rs1046548 1 20238343 [A/G] NM_015207 OTUD3 EXON Silent rs10916670 1 20243833 [T/G] rs7531863 1 20245708 [T/C] exm26538 1 20246852 [T/C] NM_014589 PLA2G2E EXON Missense_K126R exm26541 1 20246876 [T/C] NM_014589 PLA2G2E EXON Missense_R118H rs1108974 1 20248709 [A/G] NM_014589 PLA2G2E Silent exm26548 1 20248865 [T/C] NM_014589 PLA2G2E EXON Missense_R71H 1:20248884-GA 1 20248884 [A/G] NM_014589 PLA2G2E EXON Missense_H65Y exm26553 1 20249150 [T/C] NM_014589 PLA2G2E EXON Missense_G47S exm26556 1 20249203 [T/C] NM_014589 PLA2G2E EXON Missense_E29G 1:20249246-CT 1 20249246 [T/C] NM_014589 PLA2G2E EXON Missense_A15T JHU_1.20249873 1 20249874 [T/G] NM_014589 PLA2G2E Silent JHU_1.20250524 1 20250525 [A/G] JHU_1.20250823 1 20250824 [A/C] rs12063693 1 20251833 [A/G] rs55740298 1 20253340 [A/G] rs12066827 1 20254017 [A/G] JHU_1.20254066 1 20254067 [T/C] rs6664855 1 20254147 [T/G] rs1093732 1 20257846 [A/G] JHU_1.20259467 1 20259468 [T/C] JHU_1.20259492 1 20259493 [A/G] rs1796915 1 20260536 [A/G] JHU_1.20261511 1 20261512 [A/G] rs79117968 1 20261979 [A/G] rs1796917 1 20262734 [T/G] JHU_1.20262733 1 20262734 [T/G] rs1796918 1 20262931 [T/C] rs74778178 1 20263127 [T/C] rs192909695 1 20263514 [A/G] rs114979121 1 20263869 [T/C] rs17410800 1 20263901 [A/G] JHU_1.20263943 1 20263944 [T/C] JHU_1.20271842 1 20271843 [A/G] rs12138723 1 20272338 [A/C] JHU_1.20273507 1 20273508 [A/G] rs818970 1 20277914 [G/C] rs79889416 1 20278788 [T/C] rs818968 1 20279405 [T/C] rs12239721 1 20280633 [A/G] rs80231711 1 20282314 [A/C] JHU_1.20282731 1 20282732 [C/G] rs56066017 1 20282732 [C/G] rs74923506 1 20284275 [T/A] rs818961 1 20284700 [C/G] rs72661022 1 20285215 [A/G] rs2790482 1 20286121 [A/G] rs79328273 1 20286533 [A/G] rs10916679 1 20286563 [A/C] JHU_1.20287026 1 20287027 [A/C] rs113888947 1 20287401 [A/C] rs4655010 1 20287919 [A/C] JHU_1.20288297 1 20288298 [A/G] JHU_1.20288307 1 20288308 [T/G] rs9426621 1 20288400 [A/G] rs34811812 1 20288725 [A/G] JHU_1.20291115 1 20291116 [T/C] rs12023742 1 20292006 [A/C] rs13375942 1 20292378 [T/C] rs6672057 1 20293791 [T/C] rs4655020 1 20295022 [T/G] JHU_1.20296881 1 20296882 [T/C] JHU_1.20298786 1 20298787 [A/T] rs10916683 1 20300544 [A/G] rs11677 1 20301964 [A/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Silent,Silent,Silent,Silent exm26568 1 20302201 [T/C] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_R143H,Missense_R143H,Missense_R143H,Missense_R143H exm26570 1 20302261 [A/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_T123M,Missense_T123M,Missense_T123M,Missense_T123M JHU_1.20304064 1 20304065 [C/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A Silent,Silent,Silent,Silent exm26577 1 20304583 [A/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_R73C,Missense_R73C,Missense_R73C,Missense_R73C Variant15873 1 20304913 [I/D] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON rs4744 1 20304926 [A/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Synonymous_Y44Y,Synonymous_Y44Y,Synonymous_Y44Y,Synonymous_Y44Y exm26590 1 20305003 [A/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_H19Y,Missense_H19Y,Missense_H19Y,Missense_H19Y exm2232279 1 20305016 [A/G] NM_001161728,NM_001161729,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Synonymous_G14G,Synonymous_G14G,Synonymous_G14G,Synonymous_G14G rs1796923 1 20306279 [T/G] NM_001161728,NM_001161727,NM_000300 PLA2G2A,PLA2G2A,PLA2G2A Silent,Silent,Silent rs11573142 1 20307444 [A/G] rs72661034 1 20311680 [T/G] rs112140675 1 20313871 [A/G] rs7530853 1 20315599 [T/C] rs12021819 1 20316055 [A/C] rs6426602 1 20319356 [T/G] JHU_1.20323782 1 20323783 [T/G] rs1395470 1 20334629 [T/C] rs118120551 1 20337028 [T/G] rs191869817 1 20337206 [A/C] rs818668 1 20339742 [T/C] rs72661043 1 20340975 [A/G] rs10799604 1 20341233 [A/G] rs117276305 1 20342114 [T/C] rs373394546 1 20342279 [A/G] rs1093661 1 20342503 [T/G] rs6696113 1 20344144 [A/G] rs78125773 1 20356643 [A/G] JHU_1.20361615 1 20361616 [T/C] rs12410635 1 20373391 [T/G] rs146434783 1 20376388 [A/G] rs617363 1 20380145 [T/C] rs606980 1 20394713 [T/C] 1:20395497-GA 1 20395497 [A/G] rs11573191 1 20396415 [A/G] rs668630 1 20396674 [A/C] rs656110 1 20397240 [A/G] NM_000929 PLA2G5 Silent rs138977403 1 20398801 [T/C] NM_000929 PLA2G5 Silent rs11573219 1 20402767 [T/C] NM_000929 PLA2G5 Silent rs3767227 1 20404055 [A/G] NM_000929 PLA2G5 Silent rs11573236 1 20405962 [T/C] NM_000929 PLA2G5 Silent rs11573238 1 20406586 [A/G] NM_000929 PLA2G5 Silent rs660414 1 20410795 [A/G] NM_000929 PLA2G5 Silent 1:20412668-G-T 1 20412668 [T/G] NM_000929 PLA2G5 EXON Missense_G45C 1:20412680-G-A 1 20412680 [A/G] NM_000929 PLA2G5 EXON Missense_G49S seq-rs387906796 1 20412680 [A/G] NM_000929 PLA2G5 EXON Missense_G49S 1:20412692-C-T 1 20412692 [T/C] NM_000929 PLA2G5 EXON Nonsense_R53X Variant48072 1 20412720 [A/G] NM_000929 PLA2G5 EXON Nonsense_W62X rs11573278 1 20415008 [A/G] NM_000929 PLA2G5 Silent 1:20416314-GT 1 20416314 [T/G] NM_000929 PLA2G5 EXON Missense_R73L 1:20416318-TGGA-T 1 20416318 [D/I] NM_000929 PLA2G5 EXON rs2020889 1 20416407 [A/G] NM_000929 PLA2G5 Silent exm26638 1 20417136 [A/G] NM_000929 PLA2G5 EXON Missense_R123Q Variant15874 1 20417151 [I/D] NM_000929 PLA2G5 EXON 1:20417170-CA 1 20417170 [A/C] NM_000929 PLA2G5 EXON Missense_N134K rs534397 1 20417981 [G/C] NM_000929 PLA2G5 EXON Silent rs10799609 1 20418323 [T/C] NM_000929 PLA2G5 EXON Silent rs6699362 1 20423099 [T/G] rs765838 1 20423210 [T/C] rs656755 1 20424167 [T/G] rs115109387 1 20425589 [T/C] rs59684112 1 20427044 [C/G] rs6699523 1 20429440 [A/G] rs599367 1 20434402 [T/C] rs62541950 1 20437269 [T/C] rs12059492 1 20437404 [T/C] rs7518058 1 20437563 [T/C] rs7515774 1 20437634 [T/A] rs41264129 1 20440041 [A/G] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Silent,Silent JHU_1.20440040 1 20440041 [A/G] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Silent,Silent exm1747582 1 20440684 [A/G] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_R121C,Silent 1:20440717-CT 1 20440717 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_A110T,Silent exm26660 1 20442005 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_H96R,Silent exm26662 1 20442054 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_S80G,Silent indel.1397 1 20442071 [I/D] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON exm26667 1 20442074 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_H73R,Silent rs12045689 1 20442311 [A/G] NM_012400,NM_001271814 PLA2G2D,PLA2G2D Silent,Silent exm26669 1 20442866 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_G49R,Missense_G49R exm26672 1 20442878 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_G45S,Missense_G45S rs139125782 1 20442878 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_G45S,Missense_G45S exm26674 1 20442892 [A/G] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_S40F,Missense_S40F exm2275431 1 20442928 [A/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_M28R,Missense_M28R seq-rs143525617 1 20442928 [A/G] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_M28T,Missense_M28T 1:20442950-CT 1 20442950 [T/C] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON Missense_G21R,Missense_G21R JHU_1.20451280 1 20451281 [T/C] rs34942017 1 20453959 [T/C] JHU_1.20454651 1 20454652 [A/C] rs12722987 1 20455220 [A/C] JHU_1.20459646 1 20459647 [T/G] rs77809631 1 20460607 [A/G] rs518588 1 20465444 [T/C] 1:20465939-GA 1 20465939 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_A7T,Silent 1:20465997-GT 1 20465997 [T/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_G26V,Silent chr1_20466012 1 20466012 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_A31V,Silent 1:20466035-AG 1 20466035 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_R39G,Silent 1:20466696-AG 1 20466696 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_I52V,Missense_I9V exm26688 1 20466711 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_V57I,Missense_V14I rs12065685 1 20466830 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent JHU_1.20467576 1 20467577 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent rs76637394 1 20468123 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent JHU_1.20468717 1 20468718 [G/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent JHU_1.20469276 1 20469277 [T/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent 1:20469956-GA 1 20469956 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_G63S,Missense_G20S 1:20469992-GA 1 20469992 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_V75I,Missense_V32I 1:20470055-CT 1 20470055 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_R96C,Missense_R53C rs6657574 1 20470148 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent rs184722934 1 20470670 [A/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent 1:20471153-CA 1 20471153 [A/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_T132N,Missense_T89N exm26706 1 20471183 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent Variant37754 1 20471184 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent chr1_20471184 1 20471184 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent JHU_1.20471635 1 20471636 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent rs7522524 1 20472808 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent JHU_1.20472916 1 20472917 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent rs72661099 1 20473315 [A/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F Silent,Silent indel.1408 1 20474722 [D/I] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON exm26708 1 20474766 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Nonsense_R170X,Nonsense_R127X exm26710 1 20474779 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_R174H,Missense_R131H exm26711 1 20474794 [T/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_V179G,Missense_V136G exm26713 1 20474812 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Missense_T185M,Missense_T142M JHU_1.20475950 1 20475951 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Silent,Silent rs12038747 1 20475987 [A/G] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Silent,Silent JHU_1.20476625 1 20476626 [T/C] NM_022819,NM_001360869 PLA2G2F,PLA2G2F EXON Silent,Silent rs876171 1 20487743 [T/C] exm26723 1 20490518 [T/C] NM_001316722 PLA2G2C EXON Missense_Q137R exm2250501 1 20490580 [A/G] NM_001316722 PLA2G2C EXON Synonymous_S116S rs7515752 1 20491842 [A/G] NM_001316722 PLA2G2C Silent JHU_1.20492851 1 20492852 [T/C] NM_001316722 PLA2G2C Silent JHU_1.20493456 1 20493457 [A/C] NM_001316722 PLA2G2C Silent rs78123667 1 20494005 [A/G] NM_001316722 PLA2G2C Silent rs75339882 1 20496036 [A/G] NM_001316722 PLA2G2C Silent 1:20498205-A-G 1 20498205 [A/G] NM_001316722 PLA2G2C Silent rs2301475 1 20499168 [T/C] NM_001316722 PLA2G2C Silent chr1_20499305 1 20499305 [T/C] NM_001316722 PLA2G2C EXON Missense_V87I rs10916718 1 20501442 [T/C] NM_001316722 PLA2G2C Silent indel.1411 1 20501498 [I/D] NM_001316722 PLA2G2C rs12139100 1 20501582 [A/G] NM_001316722 PLA2G2C EXON Nonsense_R33X exm26737 1 20501582 [A/G] NM_001316722 PLA2G2C EXON Nonsense_R33X exm26743 1 20501665 [A/G] NM_001316722 PLA2G2C Silent rs2301478 1 20501974 [A/G] NM_001316722 PLA2G2C Silent rs78628171 1 20505478 [T/C] JHU_1.20507394 1 20507395 [A/G] rs10157172 1 20514018 [A/G] NM_152376 UBXN10 Silent variant.1413 1 20517136 [T/C] NM_152376 UBXN10 EXON Nonsense_Q28X 1:20517188-GA 1 20517188 [A/G] NM_152376 UBXN10 EXON Missense_R45Q variant.1415 1 20517355 [T/C] NM_152376 UBXN10 EXON Nonsense_Q101X 1:20517451-GA 1 20517451 [A/G] NM_152376 UBXN10 EXON Missense_V133I exm26759 1 20517463 [A/G] NM_152376 UBXN10 EXON Missense_A137T exm26761 1 20517491 [A/G] NM_152376 UBXN10 EXON Missense_R146Q exm26765 1 20517508 [A/G] NM_152376 UBXN10 EXON Missense_E152K variant.1417 1 20517583 [T/C] NM_152376 UBXN10 EXON Nonsense_R177X indel.1418 1 20517621 [D/I] NM_152376 UBXN10 EXON exm26770 1 20517632 [T/C] NM_152376 UBXN10 EXON Missense_S193L exm1747945 1 20517755 [T/C] NM_152376 UBXN10 EXON Missense_T234I exm26775 1 20517763 [T/C] NM_152376 UBXN10 EXON Nonsense_R237X 1:20517821-AG 1 20517821 [A/G] NM_152376 UBXN10 EXON Missense_K256R exm26780 1 20517867 [C/G] NM_152376 UBXN10 EXON Missense_I271M rs3968800 1 20524169 [T/C] rs6426618 1 20525160 [A/G] rs146974020 1 20526928 [A/G] rs3820320 1 20530208 [A/G] rs116082470 1 20532205 [C/G] rs76687163 1 20536571 [T/C] JHU_1.20536691 1 20536692 [T/C] JHU_1.20539006 1 20539007 [C/G] JHU_1.20539636 1 20539637 [A/C] JHU_1.20541040 1 20541041 [A/G] rs10799615 1 20541370 [A/G] rs2213801 1 20544835 [A/G] rs72663040 1 20548383 [A/G] JHU_1.20550098 1 20550099 [T/C] rs80027049 1 20551075 [A/G] rs2097532 1 20551745 [T/C] rs12077771 1 20556762 [A/G] rs6701650 1 20560297 [A/G] rs10916730 1 20560335 [A/T] rs7522868 1 20561671 [A/G] rs4655165 1 20562389 [A/G] JHU_1.20563956 1 20563957 [G/C] JHU_1.20569064 1 20569065 [T/A] rs115525370 1 20569288 [T/C] JHU_1.20569712 1 20569713 [A/C] NR_147205 LINC01757 Silent rs10916732 1 20570287 [T/G] NR_147205 LINC01757 Silent rs2157508 1 20572621 [T/C] rs61768715 1 20574616 [C/G] rs10489156 1 20575902 [A/G] rs6674531 1 20576777 [A/G] rs7541616 1 20580487 [T/C] rs56747797 1 20580513 [T/C] JHU_1.20585117 1 20585118 [C/G] JHU_1.20585431 1 20585432 [T/G] rs10916742 1 20588698 [T/C] JHU_1.20588964 1 20588965 [T/C] JHU_1.20589346 1 20589347 [G/C] rs78891522 1 20589347 [G/C] JHU_1.20589955 1 20589956 [A/G] rs763202 1 20592887 [T/C] rs74786117 1 20595144 [A/G] JHU_1.20596448 1 20596449 [A/C] JHU_1.20596475 1 20596476 [G/C] JHU_1.20596784 1 20596785 [T/G] JHU_1.20597141 1 20597142 [T/C] JHU_1.20597154 1 20597155 [A/C] rs4654843 1 20601334 [C/G] rs10916746 1 20601548 [A/G] JHU_1.20604466 1 20604467 [A/T] rs78789582 1 20604696 [T/A] rs10916749 1 20604959 [T/G] rs6683970 1 20606320 [A/G] JHU_1.20606448 1 20606449 [T/G] JHU_1.20606467 1 20606468 [T/G] rs6675775 1 20606650 [T/G] JHU_1.20606693 1 20606694 [A/G] JHU_1.20608512 1 20608513 [C/G] rs56058016 1 20609464 [T/C] rs10916751 1 20610470 [A/G] rs4422977 1 20613063 [T/G] JHU_1.20613133 1 20613134 [A/C] rs71512953 1 20613782 [T/A] rs7524659 1 20614594 [T/C] 1:20614657-C-T 1 20614657 [T/C] JHU_1.20614828 1 20614829 [A/T] rs1022470 1 20615095 [A/G] rs16823800 1 20615227 [T/C] rs4083397 1 20616630 [T/A] rs12738826 1 20617419 [T/C] NM_001039500 VWA5B1 EXON Silent JHU_1.20617835 1 20617836 [T/C] NM_001039500 VWA5B1 Silent rs76530989 1 20618640 [T/C] NM_001039500 VWA5B1 Silent JHU_1.20619791 1 20619792 [G/C] NM_001039500 VWA5B1 Silent rs2223225 1 20620323 [T/C] NM_001039500 VWA5B1 Silent rs142566188 1 20621406 [A/G] NM_001039500 VWA5B1 Silent rs10916754 1 20624063 [T/C] NM_001039500 VWA5B1 Silent JHU_1.20627522 1 20627523 [T/C] NM_001039500 VWA5B1 Silent rs77217700 1 20627686 [A/G] NM_001039500 VWA5B1 Silent JHU_1.20629009 1 20629010 [C/G] NM_001039500 VWA5B1 Silent rs12134413 1 20630594 [A/C] NM_001039500 VWA5B1 Silent JHU_1.20630593 1 20630594 [A/C] NM_001039500 VWA5B1 Silent rs75568774 1 20631516 [T/C] NM_001039500 VWA5B1 Silent rs4654849 1 20632407 [A/G] NM_001039500 VWA5B1 Silent rs149542255 1 20634927 [A/G] NM_001039500 VWA5B1 Silent rs10753496 1 20635130 [T/C] NM_001039500 VWA5B1 Silent JHU_1.20636073 1 20636074 [A/G] NM_001039500 VWA5B1 Silent rs12095205 1 20636232 [A/G] NM_001039500 VWA5B1 Silent 1:20637120-CT 1 20637120 [T/C] NM_001039500 VWA5B1 EXON Missense_T9M 1:20637170-GA 1 20637170 [A/G] NM_001039500 VWA5B1 EXON Missense_G26S rs10916761 1 20637374 [T/C] NM_001039500 VWA5B1 Silent JHU_1.20638036 1 20638037 [A/C] NM_001039500 VWA5B1 Silent 1:20639336-CA 1 20639336 [A/C] NM_001039500 VWA5B1 EXON Missense_F49L 1:20639362-CT 1 20639362 [T/C] NM_001039500 VWA5B1 EXON Missense_T58M exm26789 1 20639370 [A/G] NM_001039500 VWA5B1 EXON Missense_G61S exm26792 1 20639464 [A/G] NM_001039500 VWA5B1 EXON Missense_R92Q exm26794 1 20640830 [A/G] NM_001039500 VWA5B1 EXON Missense_D103G 1:20640986-CA 1 20640986 [A/C] NM_001039500 VWA5B1 EXON Missense_P155H exm26801 1 20641002 [T/G] NM_001039500 VWA5B1 EXON Missense_R160S exm2232351 1 20641061 [A/G] NM_001039500 VWA5B1 EXON Missense_G180D rs76573946 1 20642930 [A/G] NM_001039500 VWA5B1 Silent rs12123577 1 20643013 [G/C] NM_001039500 VWA5B1 Silent 1:20644057-GA 1 20644057 [A/G] NM_001039500 VWA5B1 EXON Missense_G200S chr1_20644085 1 20644085 [T/C] NM_001039500 VWA5B1 EXON Missense_T209I 1:20644156-TC 1 20644156 [T/C] NM_001039500 VWA5B1 EXON Missense_C233R 1:20644916-GT 1 20644916 [T/G] NM_001039500 VWA5B1 Silent 1:20645083-GA 1 20645083 [A/G] NM_001039500 VWA5B1 EXON Missense_G237E exm26817 1 20645086 [T/A] NM_001039500 VWA5B1 EXON Missense_V238E 1:20645117-CA 1 20645117 [A/C] NM_001039500 VWA5B1 EXON Missense_D248E 1:20645213-CA 1 20645213 [A/C] NM_001039500 VWA5B1 EXON Missense_S280R variant.1425 1 20645874 [T/G] NM_001039500 VWA5B1 Silent variant.1426 1 20645925 [T/G] NM_001039500 VWA5B1 EXON Nonsense_E298X 1:20645937-CA 1 20645937 [A/C] NM_001039500 VWA5B1 EXON Missense_H302N rs75618600 1 20648171 [T/C] NM_001039500 VWA5B1 Silent JHU_1.20648539 1 20648540 [T/G] NM_001039500 VWA5B1 Silent rs17355307 1 20649425 [G/C] NM_001039500 VWA5B1 Silent 1:20649861-CT 1 20649861 [T/C] NM_001039500 VWA5B1 EXON Nonsense_R327X exm26837 1 20649979 [T/C] NM_001039500 VWA5B1 EXON Missense_I366T rs10916767 1 20650774 [C/G] NM_001039500 VWA5B1 Silent rs4590651 1 20652798 [T/G] NM_001039500 VWA5B1 Silent rs114688763 1 20654146 [T/C] NM_001039500 VWA5B1 Silent exm26842 1 20656718 [A/G] NM_001039500 VWA5B1 EXON Missense_D434N 1:20656766-CT 1 20656766 [T/C] NM_001039500 VWA5B1 EXON Nonsense_Q450X exm26845 1 20656824 [A/G] NM_001039500 VWA5B1 EXON Missense_N469S 1:20656853-CT 1 20656853 [T/C] NM_001039500 VWA5B1 EXON Nonsense_R479X rs2072753 1 20657352 [T/C] NM_001039500 VWA5B1 Silent exm26854 1 20657421 [C/G] NM_001039500 VWA5B1 EXON Missense_S506C exm26855 1 20657429 [A/G] NM_001039500 VWA5B1 EXON Missense_E509K exm26856 1 20657463 [A/G] NM_001039500 VWA5B1 EXON Missense_R520Q exm26861 1 20659319 [A/G] NM_001039500 VWA5B1 EXON Missense_I545V exm26868 1 20662938 [A/G] NM_001039500 VWA5B1 EXON Missense_K634R exm26869 1 20662944 [A/C] NM_001039500 VWA5B1 EXON Missense_A636D 1:20662948-G-GCTA 1 20662948 [I/D] NM_001039500 VWA5B1 EXON 1:20664141-CA 1 20664141 [A/C] NM_001039500 VWA5B1 EXON Missense_L649M Variant37759 1 20664156 [A/C] NM_001039500 VWA5B1 EXON Synonymous_R654R exm26875 1 20664227 [A/C] NM_001039500 VWA5B1 EXON Missense_D677E exm2232355 1 20664303 [A/G] NM_001039500 VWA5B1 EXON Missense_V703I rs12404015 1 20664656 [A/T] NM_001039500 VWA5B1 Silent rs61770714 1 20668105 [T/C] NM_001039500 VWA5B1 Silent 1:20668974-GT 1 20668974 [T/G] NM_001039500 VWA5B1 EXON Missense_G728V 1:20669053-GT 1 20669053 [T/G] NM_001039500 VWA5B1 EXON Missense_W754C 1:20669070-GA 1 20669070 [A/G] NM_001039500 VWA5B1 EXON Missense_R760Q exm26880 1 20669084 [G/C] NM_001039500 VWA5B1 EXON Missense_R765G 1:20669791-CT 1 20669791 [T/C] NM_001039500 VWA5B1 EXON Missense_A844V JHU_1.20670162 1 20670163 [T/C] NM_001039500 VWA5B1 Silent rs74649201 1 20670691 [T/C] NM_001039500 VWA5B1 Silent rs11582960 1 20671961 [A/G] NM_001039500 VWA5B1 EXON Missense_R880H exm26890 1 20671961 [A/G] NM_001039500 VWA5B1 EXON Missense_R880H 1:20671993-GT 1 20671993 [T/G] NM_001039500 VWA5B1 EXON Missense_A891S variant.1429 1 20671998 [A/C] NM_001039500 VWA5B1 EXON Nonsense_C892X 1:20672021-CT 1 20672021 [T/C] NM_001039500 VWA5B1 EXON Missense_A900V exm26893 1 20672051 [A/G] NM_001039500 VWA5B1 EXON Missense_R910Q 1:20674750-GA 1 20674750 [A/G] NM_001039500 VWA5B1 EXON Missense_R926H 1:20674813-CT 1 20674813 [T/C] NM_001039500 VWA5B1 EXON Missense_P947L 1:20675659-GA 1 20675659 [A/G] NM_001039500 VWA5B1 Silent Variant12331 1 20675754 [I/D] NM_001039500 VWA5B1 1:20676681-GA 1 20676681 [A/G] NM_001039500 VWA5B1 EXON Missense_E971K 1:20676700-GA 1 20676700 [A/G] NM_001039500 VWA5B1 EXON Missense_R977H exm26903 1 20677416 [T/C] NM_001039500 VWA5B1 EXON Missense_S1007F 1:20680275-CA 1 20680275 [A/C] NM_001039500 VWA5B1 EXON Missense_A1056D exm26910 1 20680289 [A/G] NM_001039500 VWA5B1 EXON Missense_E1061K exm26911 1 20680293 [G/C] NM_001039500 VWA5B1 EXON Missense_A1062G 1:20680359-GA 1 20680359 [A/G] NM_001039500 VWA5B1 EXON Missense_R1084Q 1:20680458-TG 1 20680458 [T/G] NM_001039500 VWA5B1 EXON Missense_L1117R 1:20680646-CA 1 20680646 [A/C] NM_001039500 VWA5B1 EXON Missense_R1180S 1:20680697-CT 1 20680697 [T/C] NM_001039500 VWA5B1 EXON Missense_R1197W rs2072751 1 20680718 [A/G] NM_001039500 VWA5B1 EXON Missense_E1204K exm26925 1 20680718 [A/G] NM_001039500 VWA5B1 EXON Missense_E1204K 1:20680743-CT 1 20680743 [T/C] NM_001039500 VWA5B1 EXON Missense_P1212L rs34053492 1 20682349 [I/D] rs230174 1 20686162 [T/C] JHU_1.20694955 1 20694956 [A/G] NR_033887 LINC01141 Silent rs1886740 1 20695831 [T/C] NR_033887 LINC01141 Silent rs10159448 1 20701277 [T/C] NR_033887 LINC01141 Silent rs150569014 1 20704447 [A/G] NR_033887 LINC01141 Silent rs10916779 1 20705117 [T/C] NR_033887 LINC01141 Silent JHU_1.20708973 1 20708974 [T/C] NR_033887 LINC01141 Silent rs55739114 1 20709191 [A/G] NR_033887 LINC01141 Silent JHU_1.20713367 1 20713368 [A/G] NR_033887 LINC01141 Silent JHU_1.20715708 1 20715709 [T/G] NR_033887 LINC01141 Silent exm2250514 1 20717763 [A/C] NR_033887 LINC01141 Silent rs10916784 1 20729451 [C/G] NR_033887 LINC01141 Silent rs149375969 1 20730775 [A/G] NR_033887 LINC01141 Silent rs10753498 1 20733376 [T/C] NR_033887 LINC01141 Silent rs7533344 1 20735361 [A/G] NR_033887 LINC01141 Silent rs6426635 1 20735452 [A/G] NR_033887 LINC01141 Silent rs79370743 1 20739227 [A/C] NR_033887 LINC01141 Silent rs10799633 1 20740016 [A/C] NR_033887 LINC01141 Silent rs764151 1 20746568 [A/G] NR_033887 LINC01141 Silent rs59362971 1 20749443 [A/T] NR_033887 LINC01141 Silent rs7537381 1 20750561 [A/G] NR_033887 LINC01141 Silent rs12087853 1 20756045 [A/G] JHU_1.20757778 1 20757779 [T/C] rs10753501 1 20758192 [A/C] rs10753502 1 20759231 [A/C] rs12133675 1 20759310 [T/C] rs7513147 1 20762133 [A/C] JHU_1.20762196 1 20762197 [A/G] JHU_1.20762281 1 20762282 [A/G] JHU_1.20762895 1 20762896 [T/C] rs16824016 1 20763416 [T/C] rs78768910 1 20764321 [T/C] JHU_1.20766156 1 20766157 [T/C] rs75164623 1 20766364 [A/G] rs11577932 1 20770061 [T/C] JHU_1.20770161 1 20770162 [A/C] rs10799636 1 20770887 [T/C] rs721360 1 20772487 [T/C] rs4655211 1 20776065 [T/C] JHU_1.20777020 1 20777021 [A/G] JHU_1.20778586 1 20778587 [A/G] JHU_1.20780977 1 20780978 [A/G] JHU_1.20786823 1 20786824 [T/C] rs12023000 1 20789645 [A/G] JHU_1.20789936 1 20789937 [T/C] JHU_1.20790269 1 20790270 [A/C] rs117311120 1 20790596 [G/C] rs618041 1 20792099 [T/C] rs143559763 1 20792579 [A/G] rs77468741 1 20792915 [C/G] JHU_1.20793307 1 20793308 [C/G] rs74475881 1 20793784 [T/C] rs421385 1 20795771 [T/C] rs74322524 1 20795808 [G/C] rs12724366 1 20798620 [A/G] rs184413821 1 20799220 [T/C] rs576436 1 20801589 [T/C] rs79172691 1 20805567 [A/G] rs77694998 1 20806095 [A/G] rs118070973 1 20806974 [A/C] rs75810319 1 20807073 [T/G] JHU_1.20807609 1 20807610 [T/C] rs41265053 1 20808773 [A/C] rs117622093 1 20810385 [C/G] NM_018584 CAMK2N1 Silent rs150460498 1 20810607 [T/C] NM_018584 CAMK2N1 Silent 1:20811791-GT 1 20811791 [T/G] NM_018584 CAMK2N1 EXON Missense_R28S rs148065447 1 20814243 [A/G] rs1152984 1 20814522 [A/G] rs142913428 1 20815926 [A/G] rs1152986 1 20818935 [T/C] rs35864454 1 20821828 [T/C] rs181209898 1 20821841 [T/C] JHU_1.20824539 1 20824540 [T/G] JHU_1.20824959 1 20824960 [A/G] JHU_1.20825363 1 20825364 [A/C] JHU_1.20825491 1 20825492 [A/G] JHU_1.20826884 1 20826885 [T/C] NM_024544 MUL1 EXON Silent rs529974 1 20826910 [A/G] NM_024544 MUL1 EXON Silent exm26951 1 20827377 [A/G] NM_024544 MUL1 EXON Nonsense_R289X 1:20827547-CT 1 20827547 [T/C] NM_024544 MUL1 EXON Missense_R232K 1:20827607-GA 1 20827607 [A/G] NM_024544 MUL1 EXON Missense_P212L exm26973 1 20827784 [T/C] NM_024544 MUL1 EXON Missense_E153G exm26974 1 20827826 [A/G] NM_024544 MUL1 EXON Missense_V139A exm26976 1 20827848 [T/C] NM_024544 MUL1 EXON Missense_E132K variant.1435 1 20828562 [T/C] NM_024544 MUL1 EXON Nonsense_W110X 1:20829714-CT 1 20829714 [T/C] NM_024544 MUL1 Silent exm1749190 1 20829733 [A/G] NM_024544 MUL1 EXON Missense_P64S exm26990 1 20829761 [A/C] NM_024544 MUL1 EXON Missense_I54M rs640244 1 20830075 [C/G] NM_024544 MUL1 Silent rs78958952 1 20831168 [T/G] NM_024544 MUL1 Silent rs12566937 1 20832674 [T/G] NM_024544 MUL1 Silent exm26996 1 20834489 [T/C] NM_024544 MUL1 EXON Missense_C10Y JHU_1.20834597 1 20834598 [A/G] NM_024544 MUL1 EXON Silent rs16824070 1 20837857 [T/C] rs17412543 1 20849967 [T/G] rs7544348 1 20851834 [T/C] rs10916806 1 20855056 [A/C] rs56384185 1 20857410 [A/G] rs1253901 1 20861712 [A/C] rs616145 1 20862106 [A/G] rs645496 1 20866735 [T/G] rs184540569 1 20868050 [C/G] rs151010143 1 20871260 [A/G] rs666501 1 20872901 [A/G] rs187606377 1 20879116 [A/C] NM_207334 FAM43B EXON Silent exm2273622 1 20879548 [A/G] NM_207334 FAM43B EXON Missense_A28T 1:20879650-AG 1 20879650 [A/G] NM_207334 FAM43B EXON Missense_K62E 1:20879682-CA 1 20879682 [A/C] NM_207334 FAM43B EXON Nonsense_Y72X chr1_20879743 1 20879743 [A/G] NM_207334 FAM43B EXON Missense_D93N rs12565699 1 20883290 [A/G] rs76440167 1 20883582 [A/G] JHU_1.20883581 1 20883582 [A/G] JHU_1.20884150 1 20884151 [T/C] JHU_1.20884662 1 20884663 [T/C] rs488786 1 20888207 [T/C] rs1253890 1 20890149 [T/C] rs41415447 1 20891826 [A/G] rs818373 1 20892953 [T/C] rs472055 1 20893965 [A/G] rs189369843 1 20894200 [T/C] rs78898350 1 20895822 [T/G] rs57764519 1 20898961 [A/G] rs1890005 1 20899016 [T/C] rs12037522 1 20900184 [A/T] JHU_1.20903180 1 20903181 [C/G] rs1152991 1 20904743 [T/C] rs1152990 1 20905050 [A/G] rs622179 1 20905098 [T/C] rs640880 1 20907051 [A/G] JHU_1.20909483 1 20909484 [T/G] rs6690069 1 20914451 [A/G] 1:20915172-C-T 1 20915172 [T/C] rs532545 1 20915172 [T/C] rs12726436 1 20915441 [A/G] kgp25087902 1 20915507 [A/G] NM_001785 CDA EXON Silent 1:20915531-A-G 1 20915531 [A/G] NM_001785 CDA EXON Silent rs602950 1 20915531 [A/G] NM_001785 CDA EXON Silent rs3215400 1 20915590 [D/I] NM_001785 CDA EXON exm27043 1 20915701 [A/C] NM_001785 CDA EXON Missense_K27Q rs2072671 1 20915701 [A/C] NM_001785 CDA EXON Missense_K27Q rs117950676 1 20916447 [T/C] NM_001785 CDA Silent rs818202 1 20916791 [A/G] NM_001785 CDA Silent rs471760 1 20917206 [A/G] NM_001785 CDA Silent rs61781231 1 20918862 [A/G] NM_001785 CDA Silent rs10916824 1 20918912 [T/C] NM_001785 CDA Silent ilmnseq_1:20919411 1 20919411 [T/C] NM_001785 CDA Silent ilmnseq_1:20920129 1 20920129 [A/G] NM_001785 CDA Silent rs12401770 1 20921395 [A/G] NM_001785 CDA Silent rs818199 1 20924260 [A/G] NM_001785 CDA Silent rs818197 1 20924483 [A/C] NM_001785 CDA Silent rs373448037 1 20925440 [A/G] NM_001785 CDA Silent JHU_1.20926163 1 20926164 [A/G] NM_001785 CDA Silent rs12402391 1 20926406 [T/A] NM_001785 CDA Silent rs60729687 1 20926687 [T/C] NM_001785 CDA Silent rs4655226 1 20928284 [T/C] NM_001785 CDA Silent rs12022958 1 20928916 [T/G] NM_001785 CDA Silent JHU_1.20929195 1 20929196 [A/G] NM_001785 CDA Silent JHU_1.20931399 1 20931400 [T/C] NM_001785 CDA Silent 1:20931448-CT 1 20931448 [T/C] NM_001785 CDA EXON Missense_P61L kgp15680111 1 20931449 [A/G] NM_001785 CDA EXON Synonymous_P61P rs201761717 1 20931468 [T/C] NM_001785 CDA EXON Missense_R68W rs60369023 1 20931474 [A/G] NM_001785 CDA EXON Missense_A70T rs10916825 1 20931774 [A/G] NM_001785 CDA Silent rs818194 1 20931828 [T/A] NM_001785 CDA Silent JHU_1.20932644 1 20932645 [A/G] NM_001785 CDA Silent rs12036909 1 20933278 [T/C] NM_001785 CDA Silent rs527912 1 20934283 [A/G] NM_001785 CDA Silent JHU_1.20934564 1 20934565 [A/C] NM_001785 CDA Silent JHU_1.20934902 1 20934903 [T/C] NM_001785 CDA Silent rs558946 1 20935358 [A/C] NM_001785 CDA Silent JHU_1.20939709 1 20939710 [T/G] NM_001785 CDA Silent ilmnseq_1:20940262 1 20940262 [A/G] NM_001785 CDA Silent variant.1440 1 20940392 [A/G] NM_001785 CDA EXON Synonymous_E108E rs3738130 1 20940463 [T/C] NM_001785 CDA Silent ilmnseq_1:20942916 1 20942916 [T/C] NM_001785 CDA Silent rs147549243 1 20942984 [A/G] NM_001785 CDA Silent rs77900437 1 20943332 [A/C] NM_001785 CDA Silent JHU_1.20944888 1 20944889 [A/G] NM_001785 CDA Silent exm27060 1 20944963 [A/G] NM_001785 CDA EXON Missense_V115M exm27063 1 20945003 [T/C] NM_001785 CDA EXON Missense_T128M exm27064 1 20945036 [G/C] NM_001785 CDA EXON Missense_P139R kgp6410668 1 20945055 [T/C] NM_001785 CDA EXON Synonymous_T145T rs1048977 1 20945055 [T/C] NM_001785 CDA EXON Synonymous_T145T GA000375 1 20945251 [C/G] NM_001785 CDA EXON Silent GA018656 1 20945252 [C/G] NM_001785 CDA EXON Silent JHU_1.20945486 1 20945487 [T/C] rs10916832 1 20945644 [T/C] rs6687370 1 20951359 [T/C] 1:20625996del76 1 20952490 [I/D] JHU_1.20953585 1 20953586 [T/G] rs10916837 1 20955183 [A/C] rs74056307 1 20956760 [A/G] 1:20960253-GT 1 20960253 [T/G] NM_032409,NR_106732 PINK1,MIR6084 EXON Missense_R71L,Silent exm27071 1 20960259 [T/C] NM_032409,NR_106732 PINK1,MIR6084 EXON Missense_S73L,Silent 1:20960267-GA 1 20960267 [A/G] NM_032409,NR_106732 PINK1,MIR6084 EXON Missense_G76R,Silent exm27075 1 20960385 [A/T] NM_032409 PINK1 EXON Missense_Q115L 1:20960395-CA 1 20960395 [A/C] NM_032409 PINK1 EXON Missense_S118R 1:20960427-AG 1 20960427 [A/G] NM_032409 PINK1 EXON Missense_Q129R Variant48073 1 20964381 [T/C] NM_032409 PINK1 EXON Missense_T145M Variant48074 1 20964401 [T/C] NM_032409 PINK1 EXON Missense_R152W rs45608139 1 20964401 [T/C] NM_032409 PINK1 EXON Missense_R152W 1:20964482-CT 1 20964482 [T/C] NM_032409 PINK1 EXON Missense_P179S exm27087 1 20964505 [C/G] NM_032409 PINK1 EXON Missense_K186N Variant48077 1 20964524 [A/G] NM_032409 PINK1 EXON Missense_G193R exm27088 1 20964534 [T/C] NM_032409 PINK1 EXON Missense_P196L 1:20964563-GA 1 20964563 [A/G] NM_032409 PINK1 EXON Missense_E206K exm27091 1 20964573 [T/C] NM_032409 PINK1 EXON Missense_P209L 1:20964597-C-A 1 20964597 [A/C] NM_032409 PINK1 EXON Missense_A217D rs3819026 1 20966242 [A/G] NM_032409 PINK1 Silent rs144071530 1 20966404 [T/C] NM_032409 PINK1 EXON Missense_A232V exm27097 1 20966404 [T/C] NM_032409 PINK1 EXON Missense_A232V Variant48081 1 20966418 [A/G] NM_032409 PINK1 EXON Missense_M237V Variant48082 1 20966427 [A/G] NM_032409 PINK1 EXON Missense_E240K 1:20966445-C-T 1 20966445 [T/C] NM_032409 PINK1 EXON Nonsense_R246X 1:20966446-GA 1 20966446 [A/G] NM_032409 PINK1 EXON Missense_R246Q chr1_20966448 1 20966448 [A/G] NM_032409 PINK1 EXON Missense_V247M exm27099 1 20966454 [T/G] NM_032409 PINK1 EXON Missense_L249V Variant48085 1 20966483 [A/C] NM_032409 PINK1 EXON Nonsense_Y258X JHU_1.20967218 1 20967219 [A/C] NM_032409 PINK1 Silent rs71647163 1 20967219 [A/C] NM_032409 PINK1 Silent rs3102071 1 20968011 [A/G] NM_032409 PINK1 Silent rs76795760 1 20968223 [T/C] NM_032409 PINK1 Silent rs879088 1 20969441 [A/T] NM_032409,NR_046507 PINK1,PINK1-AS EXON Silent,Silent rs7521885 1 20969829 [T/G] NM_032409,NR_046507 PINK1,PINK1-AS Silent,Silent 1:20971019-C-A 1 20971019 [A/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_H271Q,Silent 1:20971033-GA 1 20971033 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_R276Q,Silent exm27102 1 20971041 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_R279C,Silent 1:20971042-G-A 1 20971042 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_R279H,Silent Variant48088 1 20971044 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_A280T,Silent exm27104 1 20971057 [A/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_S284Y,Silent exm27106 1 20971063 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_P286L,Silent rs146691996 1 20971063 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_P286L,Silent Variant48089 1 20971093 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_P296L,Silent rs112600292 1 20971119 [G/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_P305A,Silent 1:20971132-G-A 1 20971132 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_G309D,Silent rs202128685 1 20971141 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_R312Q,Silent rs74315359 1 20971144 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_T313M,Silent 1:20971144-C-T 1 20971144 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_T313M,Silent rs200949139 1 20971155 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_V317I,Silent Variant48091 1 20971155 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_V317I,Silent exm27115 1 20971158 [A/T] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_M318L,Silent rs115998841 1 20971237 [C/G] NM_032409,NR_046507 PINK1,PINK1-AS Silent,Silent JHU_1.20971628 1 20971629 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS Silent,Silent JHU_1.20971998 1 20971999 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS Silent,Silent 1:20972048-GA 1 20972048 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS Silent,Silent Variant48093 1 20972058 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_P322L,Silent exm27120 1 20972096 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_S335G,Silent exm27122 1 20972108 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_A339T,Silent exm27123 1 20972111 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_A340T,Silent 1:20972133-T-C 1 20972133 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_L347P,Silent rs28940285 1 20972133 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_L347P,Silent rs76753586 1 20972168 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_A359T,Silent exm27128 1 20972168 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_A359T,Silent exm2250526 1 20972170 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Synonymous_A359A,Silent exm27130 1 20972189 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_D366N,Silent Variant48096 1 20972193 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_N367S,Silent rs150854898 1 20972861 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS Silent,Silent rs115740489 1 20974740 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS Silent,Silent exm27131 1 20975021 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_A383T,Silent Variant48099 1 20975027 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_F385L,Silent Variant37762 1 20975047 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Synonymous_D391D,Silent Variant48100 1 20975070 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_P399L,Silent rs119451946 1 20975070 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_P399L,Silent Variant48104 1 20975509 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_P425S,Silent 1:20975547-G-A 1 20975547 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Nonsense_W437X,Silent Variant48106 1 20975588 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_N451S,Silent 1:20975602-C-T 1 20975602 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Nonsense_Q456X,Silent exm27154 1 20975603 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_Q456R,Silent exm27155 1 20975618 [T/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_L461R,Silent Variant48108 1 20975627 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_R464H,Silent exm27159 1 20975662 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_E476K,Silent Variant48111 1 20975710 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Nonsense_R492X,Silent 1:20975717-CT 1 20975717 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_A494V,Silent exm27163 1 20975724 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Synonymous_K496K,Silent variant.1465 1 20976925 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Silent,Silent rs61744200 1 20976940 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_R501Q,Silent exm27164 1 20976940 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_R501Q,Silent variant.1466 1 20976973 [A/G] NM_032409,NR_046507 PINK1,PINK1-AS EXON Nonsense_W512X,Silent indel.1467 1 20976995 [D/I] NM_032409,NR_046507 PINK1,PINK1-AS EXON rs1043424 1 20977000 [A/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_N521T,Silent exm27167 1 20977000 [A/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_N521T,Silent 1:20977018-TC 1 20977018 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_M527T,Silent Variant2104 1 20977034 [D/I] NM_032409,NR_046507 PINK1,PINK1-AS EXON Variant48112 1 20977042 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Missense_S535L,Silent JHU_1.20977855 1 20977856 [T/C] NM_032409,NR_046507 PINK1,PINK1-AS EXON Silent,Silent rs650616 1 20978058 [A/G] NR_046507 PINK1-AS EXON Silent JHU_1.20978147 1 20978148 [A/C] NR_046507 PINK1-AS EXON Silent exm27190 1 20979136 [A/G] NM_005216 DDOST EXON Missense_T400I rs74526704 1 20979148 [T/C] NM_005216 DDOST EXON Missense_R396Q exm1749330 1 20979148 [T/C] NM_005216 DDOST EXON Missense_R396Q rs190780604 1 20979408 [A/G] NM_005216 DDOST EXON Synonymous_G350G rs117925699 1 20980169 [T/C] NM_005216 DDOST EXON Missense_R315Q exm27209 1 20980734 [A/G] NM_005216 DDOST EXON Missense_A276V exm27210 1 20980758 [A/G] NM_005216 DDOST EXON Missense_F268S exm27214 1 20980798 [T/C] NM_005216 DDOST EXON Missense_V255I 1:20980844-CA 1 20980844 [A/C] NM_005216 DDOST EXON Missense_K239N rs41307775 1 20980847 [T/C] NM_005216 DDOST EXON Synonymous_G238G 1:20981106-CA 1 20981106 [A/C] NM_005216 DDOST Silent 1:20981107-CA 1 20981107 [A/C] NM_005216 DDOST EXON Missense_Q232H seq-rs387906831 1 20981153 [T/C] NM_005216 DDOST EXON Missense_G217D exm27222 1 20981156 [A/G] NM_005216 DDOST EXON Missense_T216M chr1_20981963 1 20981963 [A/G] NM_005216 DDOST EXON Missense_S191F exm27224 1 20981975 [A/G] NM_005216 DDOST EXON Missense_V187A rs111334879 1 20981976 [T/C] NM_005216 DDOST EXON Missense_V187I exm27225 1 20981976 [T/C] NM_005216 DDOST EXON Missense_V187I rs367895981 1 20982585 [T/C] NM_005216 DDOST Silent rs623817 1 20986078 [A/G] NM_005216 DDOST Silent 1:20987702-GA 1 20987702 [A/G] NM_005216 DDOST EXON Missense_R65W exm27248 1 20987762 [A/G] NM_005216 DDOST EXON Missense_P45S rs17837938 1 20987778 [T/C] NM_005216 DDOST EXON Synonymous_A39A exm2250529 1 20987808 [C/G] NM_005216 DDOST EXON Synonymous_L29L rs61739382 1 20987855 [T/G] NM_005216 DDOST EXON Synonymous_R14R exm27256 1 20987879 [A/C] NM_005216 DDOST EXON Missense_C6G rs3753834 1 20988911 [T/C] rs75020829 1 20989293 [T/C] 1:20991256-CT 1 20991256 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs144236031 1 20992769 [G/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_S850T,Missense_S949T,Missense_S950T exm27277 1 20992819 [G/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_D833E,Missense_D932E,Missense_D933E exm27278 1 20992824 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E832K,Missense_E931K,Missense_E932K rs61778493 1 20992887 [A/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs617367 1 20993151 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs647812 1 20994217 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs59601027 1 20995067 [A/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs1125090 1 20996555 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent JHU_1.20997293 1 20997294 [C/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs77322257 1 20997472 [T/A] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs12569006 1 20997748 [A/T] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs141985868 1 20998491 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E788K,Missense_E888K,Missense_E888K exm27291 1 20998491 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E788K,Missense_E888K,Missense_E888K 1:20998495-CT 1 20998495 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Nonsense_W786X,Nonsense_W886X,Nonsense_W886X exm27292 1 20998508 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R782H,Missense_R882H,Missense_R882H exm27293 1 20998509 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R782C,Missense_R882C,Missense_R882C exm27295 1 20998545 [T/A] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R770W,Missense_R870W,Missense_R870W rs141369367 1 20998548 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R769C,Missense_R869C,Missense_R869C exm27296 1 20998548 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R769C,Missense_R869C,Missense_R869C indel.1474 1 20998553 [I/D] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON rs113995871 1 20998568 [T/A] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E762V,Missense_E862V,Missense_E862V exm27298 1 20998598 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R752H,Missense_R852H,Missense_R852H rs72650862 1 20998849 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs10916848 1 21002613 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent JHU_1.21004345 1 21004346 [G/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs35563952 1 21005201 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs115257742 1 21009189 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E707A,Missense_E807A,Missense_E807A exm27306 1 21009189 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E707A,Missense_E807A,Missense_E807A rs139817126 1 21009211 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V700I,Missense_V800I,Missense_V800I exm27310 1 21009211 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V700I,Missense_V800I,Missense_V800I rs200844482 1 21009232 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_G693R,Missense_G793R,Missense_G793R exm27319 1 21009279 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R677H,Missense_R777H,Missense_R777H rs148629128 1 21009279 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R677H,Missense_R777H,Missense_R777H exm27321 1 21009294 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R672H,Missense_R772H,Missense_R772H 1:21009332-CA 1 21009332 [A/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_K659N,Missense_K759N,Missense_K759N 1:21009355-CA 1 21009355 [A/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V652F,Missense_V752F,Missense_V752F rs4655235 1 21009800 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent JHU_1.21010387 1 21010388 [G/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent JHU_1.21010411 1 21010412 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent JHU_1.21011063 1 21011064 [T/A] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent 1:21011303-GA 1 21011303 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R644C,Missense_R744C,Missense_R744C 1:21011321-GT 1 21011321 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_Q638K,Missense_Q738K,Missense_Q738K exm27327 1 21011330 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V635I,Missense_V735I,Missense_V735I exm27329 1 21011338 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P632L,Missense_P732L,Missense_P732L rs61750850 1 21011355 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Synonymous_A626A,Synonymous_A726A,Synonymous_A726A 1:21011372-CT 1 21011372 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V621M,Missense_V721M,Missense_V721M exm27333 1 21011401 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P611L,Missense_P711L,Missense_P711L 1:21011474-GA 1 21011474 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R587W,Missense_R687W,Missense_R687W 1:21011497-GA 1 21011497 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_S579L,Missense_S679L,Missense_S679L exm27340 1 21011510 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V575I,Missense_V675I,Missense_V675I JHU_1.21011813 1 21011814 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs72980803 1 21011897 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent exm27344 1 21012549 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P570L,Missense_P670L,Missense_P670L 1:21012593-CA 1 21012593 [A/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E555D,Missense_E655D,Missense_E655D exm27347 1 21012595 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E555K,Missense_E655K,Missense_E655K exm27348 1 21012609 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P550L,Missense_P650L,Missense_P650L rs4143111 1 21013546 [A/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent exm27357 1 21013958 [A/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_A521S,Missense_A621S,Missense_A621S exm27362 1 21014017 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P501L,Missense_P601L,Missense_P601L exm27363 1 21014027 [C/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_Q498E,Missense_Q598E,Missense_Q598E 1:21014029-GA 1 21014029 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P497L,Missense_P597L,Missense_P597L exm27372 1 21014075 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_G482R,Missense_G582R,Missense_G582R 1:21014254-GA 1 21014254 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_A422V,Missense_A522V,Missense_A522V exm27390 1 21014335 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V395A,Missense_V495A,Missense_V495A 1:21014377-GA 1 21014377 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_A381V,Missense_A481V,Missense_A481V JHU_1.21015374 1 21015375 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent JHU_1.21016306 1 21016307 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent 1:21016710-GA 1 21016710 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_T351M,Missense_T451M,Missense_T451M rs201195116 1 21016771 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R331W,Missense_R431W,Missense_R431W exm27401 1 21016771 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R331W,Missense_R431W,Missense_R431W exm27405 1 21016815 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R316H,Missense_R416H,Missense_R416H rs628265 1 21018485 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs610719 1 21020128 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs72650874 1 21021069 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs145884257 1 21021865 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs16824489 1 21022402 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs369303863 1 21023039 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs12407382 1 21023696 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs12745565 1 21024155 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs56094066 1 21024258 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs16824496 1 21024460 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent 1:21024892-CT 1 21024892 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E305K,Missense_E405K,Missense_E405K rs199771446 1 21024892 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E305K,Missense_E405K,Missense_E405K exm27412 1 21024901 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V302M,Missense_V402M,Missense_V402M JHU_1.21025059 1 21025060 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent JHU_1.21025138 1 21025139 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs115613265 1 21026217 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs77452905 1 21026399 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs61778501 1 21027201 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs648143 1 21027314 [G/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent JHU_1.21029231 1 21029232 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs12041185 1 21030916 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent exm27418 1 21030956 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_S269R,Missense_S369R,Missense_S369R rs114221851 1 21030967 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Nonsense_Q266X,Nonsense_Q366X,Nonsense_Q366X 1:21030967-GA 1 21030967 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Nonsense_Q266X,Nonsense_Q366X,Nonsense_Q366X 1:21031009-CT 1 21031009 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_E252K,Missense_E352K,Missense_E352K exm27424 1 21031042 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_I241V,Missense_I341V,Missense_I341V 1:21031105-CT 1 21031105 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_D220N,Missense_D320N,Missense_D320N 1:21031109-AGTT-A 1 21031109 [I/D] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON exm27436 1 21031125 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_S213L,Missense_S313L,Missense_S313L exm27439 1 21031152 [G/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_T204S,Missense_T304S,Missense_T304S exm27440 1 21031159 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_G202S,Missense_G302S,Missense_G302S 1:21031260-GA 1 21031260 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_S168L,Missense_S268L,Missense_S268L rs116683388 1 21031278 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_K162R,Missense_K262R,Missense_K262R 1:21031297-GA 1 21031297 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R156W,Missense_R256W,Missense_R256W JHU_1.21031765 1 21031766 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent exm2259945 1 21031983 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs752555 1 21032041 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs151072871 1 21032689 [C/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs72650881 1 21034596 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs6426644 1 21035108 [C/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs12042785 1 21035252 [T/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent JHU_1.21036050 1 21036051 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent 1:21036258-CT 1 21036258 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V82M,Missense_V182M,Missense_V182M exm27463 1 21036276 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_M76V,Missense_M176V,Missense_M176V rs149625740 1 21036291 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V71M,Missense_V171M,Missense_V171M rs114114736 1 21037956 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent 1:21039984-CT 1 21039984 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R48Q,Missense_R148Q,Missense_R148Q rs72650882 1 21040310 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent rs666371 1 21041555 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent 1:21042003-CT 1 21042003 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_V21M,Missense_V121M,Missense_V121M exm27473 1 21042018 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R16G,Missense_R116G,Missense_R116G exm27474 1 21042033 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_R11G,Missense_R111G,Missense_R111G exm27476 1 21042050 [C/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Missense_P5R,Missense_P105R,Missense_P105R rs12046928 1 21042094 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Silent,Synonymous_Y90Y,Synonymous_Y90Y Variant37766 1 21042094 [A/G] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Silent,Synonymous_Y90Y,Synonymous_Y90Y rs61778523 1 21042157 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent JHU_1.21042761 1 21042762 [A/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 Silent,Silent,Silent exm27487 1 21043968 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Silent,Silent,Silent rs147438943 1 21044007 [T/C] NM_001287212,NM_001122819,NM_020816 KIF17,KIF17,KIF17 EXON Silent,Missense_E65K,Missense_E65K JHU_1.21044994 1 21044995 [T/C] rs75869282 1 21047588 [C/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Silent,Silent exm1751058 1 21048439 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_A373V,Missense_A289V exm27506 1 21048472 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_F362S,Missense_F278S 1:21049248-CA 1 21049248 [A/C] NM_001103161,NM_001103160 SH2D5,SH2D5 Silent,Silent exm27512 1 21049313 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R335H,Missense_R251H exm27513 1 21049317 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_V334M,Missense_V250M 1:21049386-GA 1 21049386 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R311W,Missense_R227W exm27520 1 21050155 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_L291P,Missense_L207P 1:21050201-GA 1 21050201 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R276W,Missense_R192W 1:21050620-CT 1 21050620 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_G252D,Missense_G168D 1:21050639-GA 1 21050639 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R246C,Missense_R162C exm27535 1 21050677 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_T233M,Missense_T149M 1:21050677-GA 1 21050677 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_T233M,Missense_T149M 1:21050713-CT 1 21050713 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R221H,Missense_R137H exm27537 1 21050719 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R219H,Missense_R135H 1:21050920-CT 1 21050920 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R200Q,Missense_R116Q exm27548 1 21050969 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_G184S,Missense_G100S 1:21051053-GA 1 21051053 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Nonsense_Q156X,Nonsense_Q72X exm27552 1 21051058 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R154Q,Missense_R70Q exm27554 1 21051116 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_H135Y,Missense_H51Y exm27561 1 21052477 [C/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R109P,Missense_R25P 1:21052531-CT 1 21052531 [T/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R91H,Missense_R7H exm1751106 1 21052532 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R91C,Missense_R7C 1:21053559-GA 1 21053559 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Nonsense_R60X,Silent 1:21054023-GA 1 21054023 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_A54V,Silent exm27574 1 21054041 [A/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_V48G,Silent exm27580 1 21054480 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_R20W,Silent exm1751193 1 21054485 [T/G] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_P18H,Silent 1:21054495-CA 1 21054495 [A/C] NM_001103161,NM_001103160 SH2D5,SH2D5 EXON Missense_G15W,Silent JHU_1.21054705 1 21054706 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 Silent,Silent rs733581 1 21054788 [A/G] NM_001103161,NM_001103160 SH2D5,SH2D5 Silent,Silent rs78168914 1 21060032 [A/G] rs710311 1 21062001 [T/C] JHU_1.21066995 1 21066996 [T/C] rs12123092 1 21067001 [A/G] rs182106479 1 21071096 [T/G] NM_016287 HP1BP3 EXON Silent exm27586 1 21071402 [T/C] NM_016287 HP1BP3 EXON Missense_K517R exm27587 1 21071406 [T/G] NM_016287 HP1BP3 EXON Missense_I516L 1:21071489-CT 1 21071489 [T/C] NM_016287 HP1BP3 EXON Missense_R488Q 1:21071544-CT 1 21071544 [T/C] NM_016287 HP1BP3 EXON Missense_A470T exm27595 1 21071549 [T/C] NM_016287 HP1BP3 EXON Missense_K468R rs2274119 1 21071967 [T/C] NM_016287 HP1BP3 Silent exm2250557 1 21072050 [A/C] NM_016287 HP1BP3 EXON Synonymous_P451P rs74803964 1 21072367 [T/C] NM_016287 HP1BP3 Silent rs145694389 1 21075629 [T/C] NM_016287 HP1BP3 Silent JHU_1.21080968 1 21080969 [T/C] NM_016287 HP1BP3 Silent rs77105150 1 21084804 [T/C] NM_016287 HP1BP3 Silent JHU_1.21086371 1 21086372 [T/G] NM_016287 HP1BP3 Silent rs7552264 1 21087927 [A/G] NM_016287 HP1BP3 Silent 1:21088364-C-T 1 21088364 [T/C] NM_016287 HP1BP3 Silent JHU_1.21088634 1 21088635 [T/A] NM_016287 HP1BP3 Silent rs1985278 1 21091861 [T/G] NM_016287 HP1BP3 Silent rs186062476 1 21099681 [G/C] NM_016287 HP1BP3 Silent 1:21102451-CA 1 21102451 [A/C] NM_016287 HP1BP3 Silent 1:21102560-C-T 1 21102560 [T/C] NM_016287 HP1BP3 Silent JHU_1.21105136 1 21105137 [T/C] NM_016287 HP1BP3 Silent JHU_1.21106270 1 21106271 [T/C] NM_016287 HP1BP3 Silent exm27638 1 21106855 [T/C] NM_016287 HP1BP3 EXON Missense_A27T 1:21114833-G-A 1 21114833 [A/G] rs79639837 1 21118943 [A/G] JHU_1.21123323 1 21123324 [A/G] JHU_1.21130277 1 21130278 [T/A] rs78776264 1 21132381 [T/C] 1:21133862-CT 1 21133862 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_A1570T,Missense_A1576T,Missense_A1606T 1:21137326-GA 1 21137326 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_P1494L,Missense_P1500L,Missense_P1530L exm27655 1 21137376 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Synonymous_A1477A,Synonymous_A1483A,Synonymous_A1513A rs78653707 1 21138834 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs141441319 1 21140365 [A/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs7520481 1 21140385 [T/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent 1:21143979-TC 1 21143979 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_K1418R,Missense_K1424R,Missense_K1454R 1:21144013-AC 1 21144013 [A/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_S1407A,Missense_S1413A,Missense_S1443A 1:21147236-T-G 1 21147236 [T/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent JHU_1.21154524 1 21154525 [T/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent newrs141863024 1 21155638 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27666 1 21155679 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_M1327T,Missense_M1333T,Missense_M1363T rs113309707 1 21157837 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs2230573 1 21167404 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Synonymous_L1280L,Synonymous_L1286L,Synonymous_L1316L JHU_1.21174428 1 21174429 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent chr1_21175993 1 21175993 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_H1212R,Missense_H1218R,Missense_H1248R JHU_1.21176041 1 21176042 [A/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs148191213 1 21177551 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent newrs147925139 1 21177750 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27682 1 21177755 [A/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_E1200D,Missense_E1206D,Missense_E1236D exm27686 1 21177892 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_G1155S,Missense_G1161S,Missense_G1191S exm27691 1 21180098 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_T1113M,Missense_T1119M,Missense_T1149M 1:21180153-CA 1 21180153 [A/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_A1095S,Missense_A1101S,Missense_A1131S exm27694 1 21180162 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_R1092W,Missense_R1098W,Missense_R1128W rs2305463 1 21180181 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent JHU_1.21181923 1 21181924 [A/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent JHU_1.21182177 1 21182178 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs117476854 1 21187773 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs114848760 1 21188501 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27708 1 21191148 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_R887W,Missense_R893W,Missense_R923W 1:21191725-TC 1 21191725 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_N829D,Missense_N835D,Missense_N865D rs374059233 1 21191767 [C/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs202043593 1 21195799 [T/A] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs115299399 1 21202912 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent JHU_1.21202953 1 21202954 [A/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs117156641 1 21204229 [G/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs142218673 1 21210743 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27718 1 21212726 [T/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q742K,Missense_Q748K,Missense_Q778K 1:21212762-CT 1 21212762 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_E730K,Missense_E736K,Missense_E766K rs6685306 1 21219050 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent Variant37767 1 21219110 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent 1:21220003-C-CA 1 21220003 [I/D] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 JHU_1.21221543 1 21221544 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27730 1 21226211 [A/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_V604F,Missense_V610F,Missense_V603F 1:21226273-CA 1 21226273 [A/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_S583I,Missense_S589I,Missense_S582I exm27733 1 21226375 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_S549N,Missense_S555N,Missense_S548N exm27735 1 21226402 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_V540A,Missense_V546A,Missense_V539A 1:21226433-TC 1 21226433 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_K530E,Missense_K536E,Missense_K529E exm27743 1 21231453 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_I503V,Missense_I509V,Missense_I502V exm27744 1 21231460 [T/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q500H,Missense_Q506H,Missense_Q499H JHU_1.21233315 1 21233316 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs192288075 1 21236481 [A/G] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs78716506 1 21241554 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs145341501 1 21244884 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent 1:21253519-C-T 1 21253519 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent JHU_1.21264377 1 21264378 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs12728104 1 21264438 [T/C] NM_003760,NM_001198802,NM_001198801 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27747 1 21267993 [C/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P496A,Missense_P502A,Missense_P495A,Missense_P507A exm27748 1 21268050 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_A477T,Missense_A483T,Missense_A476T,Missense_A488T 1:21268082-GT 1 21268082 [T/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_A466E,Missense_A472E,Missense_A465E,Missense_A477E exm27749 1 21268143 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I446V,Missense_I452V,Missense_I445V,Missense_I457V exm27751 1 21268164 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_V439I,Missense_V445I,Missense_V438I,Missense_V450I exm27753 1 21268194 [G/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P429A,Missense_P435A,Missense_P428A,Missense_P440A exm27764 1 21268346 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q378R,Missense_Q384R,Missense_Q377R,Missense_Q389R exm27767 1 21268421 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_T353I,Missense_T359I,Missense_T352I,Missense_T364I exm1758770 1 21268475 [T/A] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I335K,Missense_I341K,Missense_I334K,Missense_I346K exm27774 1 21268644 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I279V,Missense_I285V,Missense_I278V,Missense_I290V 1:21268695-GA 1 21268695 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_L262F,Missense_L268F,Missense_L261F,Missense_L273F exm27777 1 21268710 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_V257I,Missense_V263I,Missense_V256I,Missense_V268I 1:21268737-CCTT-C 1 21268737 [I/D] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON 1:21272118-T-C 1 21272118 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs76893437 1 21275127 [A/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs140708611 1 21277944 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs115883798 1 21277971 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent 1:21295800-C-A 1 21295800 [A/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent JHU_1.21295915 1 21295916 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent 1:21299509-TA 1 21299509 [T/A] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Nonsense_R137X,Nonsense_R144X,Nonsense_R137X,Nonsense_R148X rs61781108 1 21303674 [T/A] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs75124863 1 21305553 [T/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs12021529 1 21306161 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent exm27790 1 21306835 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_N106S,Missense_N113S,Missense_N106S,Missense_N117S 1:21306851-GA 1 21306851 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P101S,Missense_P108S,Missense_P101S,Missense_P112S exm27792 1 21306857 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P99S,Missense_P106S,Missense_P99S,Missense_P110S exm27794 1 21306889 [T/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q88P,Missense_Q95P,Missense_Q88P,Missense_Q99P exm27797 1 21306910 [T/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P81H,Missense_P88H,Missense_P81H,Missense_P92H JHU_1.21309589 1 21309590 [G/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent JHU_1.21312023 1 21312024 [A/T] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs1110240 1 21324933 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent JHU_1.21327095 1 21327096 [A/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs2174689 1 21329128 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs12130664 1 21332812 [T/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs151106562 1 21335623 [A/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs4654732 1 21337313 [T/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs149237000 1 21339131 [G/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs6681064 1 21339644 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs12078306 1 21339727 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs6689852 1 21341051 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs144757434 1 21345084 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent kgp5318568 1 21351885 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent JHU_1.21351884 1 21351885 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs142931677 1 21363098 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent 1:21373552-A-G 1 21373552 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs75677277 1 21381502 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent JHU_1.21385435 1 21385436 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs2063074 1 21392940 [T/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs4654899 1 21410231 [A/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent JHU_1.21414918 1 21414919 [T/A] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent JHU_1.21417943 1 21417944 [A/G] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent JHU_1.21421861 1 21421862 [T/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs143569180 1 21437752 [A/C] NM_003760,NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent JHU_1.21440083 1 21440084 [T/G] NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent kgp9119075 1 21441998 [T/C] NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent kgp10979704 1 21442736 [T/C] NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent JHU_1.21457091 1 21457092 [T/C] NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent JHU_1.21467891 1 21467892 [A/G] NM_001198802,NM_001198801,NM_001198803 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent JHU_1.21501874 1 21501875 [T/C] NM_001198802,NM_001198801 EIF4G3,EIF4G3 Silent,Silent 1:21180071_21180072ins 1 21506564 [D/I] rs34554534 1 21516090 [A/G] rs1609558 1 21525228 [T/C] JHU_1.21532575 1 21532576 [A/G] rs74343247 1 21544247 [A/T] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Silent,Silent,Silent,Silent rs3026913 1 21544601 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Silent,Silent,Silent,Silent rs3026908 1 21546314 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Silent,Silent,Silent,Silent exm27815 1 21546459 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_E765K,Missense_E752K,Missense_E768K,Missense_E756K rs186453862 1 21546474 [G/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_P760A,Missense_P747A,Missense_P763A,Missense_P751A rs3026906 1 21546501 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_R751C,Missense_R738C,Missense_R754C,Missense_R742C 1:21546537-AG 1 21546537 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_S739P,Missense_S726P,Missense_S742P,Missense_S730P exm27820 1 21546612 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V714I,Missense_V701I,Missense_V717I,Missense_V705I rs2038089 1 21551457 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs2038090 1 21551550 [A/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent 1:21551662-T-G 1 21551662 [T/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27825 1 21551745 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_R677W,Missense_R664W,Missense_R680W,Missense_R668W rs185424269 1 21551753 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_A674V,Missense_A661V,Missense_A677V,Missense_A665V ilmnseq_rs367812436.2_F2BT 1 21551817 [G/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_G653R,Missense_G640R,Missense_G656R,Missense_G644R exm27831 1 21551823 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V651M,Missense_V638M,Missense_V654M,Missense_V642M exm27836 1 21551904 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_R624W,Missense_R611W,Missense_R627W,Missense_R615W variant.1492 1 21553647 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent 1:21554453-CA 1 21554453 [A/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_Q581H,Missense_Q568H,Missense_Q584H,Missense_Q572H 1:21554513-CA 1 21554513 [A/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_M561I,Missense_M548I,Missense_M564I,Missense_M552I rs9426666 1 21556887 [T/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27850 1 21560060 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_N551S,Missense_N538S,Missense_N554S,Missense_N542S 1:21560114-CT 1 21560114 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_R533Q,Missense_R520Q,Missense_R536Q,Missense_R524Q exm27858 1 21562343 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Synonymous_D519D,Synonymous_D506D,Synonymous_D522D,Synonymous_D510D rs187474823 1 21562354 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V516M,Missense_V503M,Missense_V519M,Missense_V507M exm27859 1 21562354 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V516M,Missense_V503M,Missense_V519M,Missense_V507M 1:21562369-TC 1 21562369 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_K511E,Missense_K498E,Missense_K514E,Missense_K502E JHU_1.21564493 1 21564494 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27867 1 21564631 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_S459N,Missense_S446N,Missense_S462N,Missense_S450N rs212508 1 21570426 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27870 1 21571570 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_N394S,Missense_N381S,Missense_N397S,Missense_N385S rs12562197 1 21571601 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs199950512 1 21573802 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V356M,Missense_V343M,Missense_V359M,Missense_V347M exm27879 1 21573802 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V356M,Missense_V343M,Missense_V359M,Missense_V347M exm27881 1 21573817 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_T351A,Missense_T338A,Missense_T354A,Missense_T342A 1:21573844-CT 1 21573844 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_A342T,Missense_A329T,Missense_A345T,Missense_A333T exm27882 1 21573855 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_T338I,Missense_T325I,Missense_T341I,Missense_T329I rs28367993 1 21574586 [G/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs212516 1 21575456 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs2682369 1 21575564 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent 1:21582525-GA 1 21582525 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_T309M,Missense_T296M,Missense_T312M,Missense_T300M exm27891 1 21582583 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_G290S,Missense_G277S,Missense_G293S,Missense_G281S 1:21582599-CA 1 21582599 [A/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_Q284H,Missense_Q271H,Missense_Q287H,Missense_Q275H rs212524 1 21583311 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent 1:21584028-TC 1 21584028 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_E270G,Missense_E257G,Missense_E273G,Missense_E261G rs212525 1 21584585 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent JHU_1.21585614 1 21585615 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs212530 1 21586130 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27906 1 21586808 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_I188V,Missense_I175V,Missense_I191V,Missense_I179V 1:21586831-CT 1 21586831 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_R180H,Missense_R167H,Missense_R183H,Missense_R171H exm27911 1 21586862 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_E170K,Missense_E157K,Missense_E173K,Missense_E161K rs2282714 1 21587849 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent JHU_1.21589846 1 21589847 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent JHU_1.21590809 1 21590810 [A/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent JHU_1.21593429 1 21593430 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs150801037 1 21593968 [C/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs28367968 1 21594854 [C/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs1067216 1 21595553 [A/T] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs3026868 1 21598136 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs3026866 1 21598372 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs142092671 1 21599272 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_P135L,Missense_P122L,Missense_P138L,Missense_P126L 1:21599321-A-AG 1 21599321 [D/I] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON rs28367953 1 21599799 [T/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs4654916 1 21600677 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs77624589 1 21601297 [A/G] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27926 1 21605750 [A/C] NM_001113349,NM_001113348,NM_001397,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_L69V,Missense_L56V,Missense_L72V,Missense_L60V JHU_1.21609432 1 21609433 [T/A] NM_001113349,NM_001113348,NM_001397 ECE1,ECE1,ECE1 Silent,Silent,Silent rs28367922 1 21615039 [A/C] NM_001113349,NM_001113348,NM_001397 ECE1,ECE1,ECE1 Silent,Silent,Silent 1:21616573-TC 1 21616573 [T/C] NM_001113349,NM_001113348,NM_001397 ECE1,ECE1,ECE1 EXON Missense_N40S,Missense_N27S,Missense_N43S 1:21617245-G-T 1 21617245 [T/G] NM_001113348 ECE1 Silent rs213046 1 21617746 [A/C] NM_001113348 ECE1 Silent JHU_1.21620331 1 21620332 [T/C] NM_001113348,NR_038404 ECE1,LOC100506801 Silent,Silent rs1067236 1 21620995 [A/C] NM_001113348,NR_038404 ECE1,LOC100506801 Silent,Silent rs34263283 1 21621379 [T/C] NM_001113348,NR_038404 ECE1,LOC100506801 Silent,Silent rs117822555 1 21623585 [T/C] NM_001113348,NR_038404 ECE1,LOC100506801 Silent,Silent rs10916958 1 21625145 [T/C] NM_001113348,NR_038404 ECE1,LOC100506801 EXON Silent,Silent rs138305492 1 21625357 [A/G] NM_001113348,NR_038404 ECE1,LOC100506801 EXON Silent,Silent JHU_1.21626318 1 21626319 [A/G] NM_001113348,NR_038404 ECE1,LOC100506801 EXON Silent,Silent exm2263817 1 21629447 [A/C] NM_001113348 ECE1 Silent rs2051031 1 21631472 [T/C] NM_001113348 ECE1 Silent rs10916959 1 21631663 [A/G] NM_001113348 ECE1 Silent rs3026840 1 21635529 [A/C] NM_001113348 ECE1 Silent JHU_1.21640386 1 21640387 [T/C] NM_001113348 ECE1 Silent rs84853 1 21641522 [T/C] NM_001113348 ECE1 Silent rs3026831 1 21644469 [A/G] NM_001113348 ECE1 Silent rs2745245 1 21645876 [A/C] NM_001113348 ECE1 Silent rs213019 1 21646763 [A/G] NM_001113348 ECE1 Silent JHU_1.21647097 1 21647098 [T/C] NM_001113348 ECE1 Silent rs3026825 1 21652351 [T/C] NM_001113348 ECE1 Silent JHU_1.21652682 1 21652683 [T/C] NM_001113348 ECE1 Silent JHU_1.21653122 1 21653123 [T/G] NM_001113348 ECE1 Silent rs213032 1 21654735 [T/C] NM_001113348 ECE1 Silent JHU_1.21658218 1 21658219 [T/C] NM_001113348 ECE1 Silent JHU_1.21659349 1 21659350 [A/G] NM_001113348 ECE1 Silent JHU_1.21659685 1 21659686 [A/G] NM_001113348 ECE1 Silent JHU_1.21659836 1 21659837 [A/G] NM_001113348 ECE1 Silent JHU_1.21661383 1 21661384 [A/G] NM_001113348 ECE1 Silent rs34005655 1 21661867 [G/C] NM_001113348 ECE1 Silent rs4654919 1 21662131 [A/G] NM_001113348 ECE1 Silent rs3026815 1 21664475 [T/C] NM_001113348 ECE1 Silent rs148081116 1 21667576 [T/C] NM_001113348 ECE1 Silent rs139923552 1 21668214 [A/G] NM_001113348 ECE1 Silent JHU_1.21668301 1 21668302 [T/C] NM_001113348 ECE1 Silent rs77025042 1 21668730 [A/G] NM_001113348 ECE1 Silent rs11805268 1 21668873 [A/G] NM_001113348 ECE1 Silent JHU_1.21672435 1 21672436 [T/C] JHU_1.21672843 1 21672844 [A/G] rs2745251 1 21674005 [T/C] JHU_1.21676567 1 21676568 [T/C] rs185789679 1 21676847 [T/C] rs147359089 1 21677362 [T/C] rs6695985 1 21679269 [T/G] rs72657116 1 21680008 [A/G] JHU_1.21680176 1 21680177 [T/G] rs2774015 1 21681603 [A/G] JHU_1.21682335 1 21682336 [A/G] rs10916967 1 21682361 [A/G] rs16825276 1 21685445 [T/C] JHU_1.21686105 1 21686106 [A/G] rs2796347 1 21686766 [T/C] JHU_1.21687586 1 21687587 [T/C] rs2796354 1 21687854 [A/G] rs72657127 1 21690632 [T/C] rs785196 1 21696730 [T/A] rs785198 1 21697469 [T/C] rs72657130 1 21697575 [A/G] rs72657133 1 21698405 [A/G] JHU_1.21705434 1 21705435 [A/G] rs12140375 1 21707402 [T/C] JHU_1.21708586 1 21708587 [T/C] rs7530779 1 21709489 [A/G] rs77887585 1 21710812 [T/C] rs10916972 1 21711731 [A/G] rs191200182 1 21717016 [A/G] 1:21717127-A-G 1 21717127 [A/G] rs12563141 1 21723308 [T/C] JHU_1.21729167 1 21729168 [T/C] rs7555660 1 21731734 [T/C] rs11584744 1 21741843 [C/G] rs149678897 1 21742194 [G/C] rs10916982 1 21742614 [T/C] rs61779171 1 21742805 [A/C] JHU_1.21743576 1 21743577 [A/G] JHU_1.21748410 1 21748411 [T/C] rs148740928 1 21748544 [A/C] rs41302023 1 21755345 [T/C] JHU_1.21756767 1 21756768 [T/G] rs59135551 1 21763969 [C/G] rs1976403 1 21766453 [A/C] JHU_1.21772686 1 21772687 [T/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent JHU_1.21775850 1 21775851 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent rs4654938 1 21785981 [T/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent rs4654748 1 21786068 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent exm-rs4654748 1 21786068 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent rs12563420 1 21786938 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent 1:21461251del64 1 21787745 [D/I] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 JHU_1.21792157 1 21792158 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent JHU_1.21792207 1 21792208 [G/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent JHU_1.21792223 1 21792224 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent JHU_1.21793377 1 21793378 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent indel.1502 1 21795275 [D/I] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON 1:21795303-GA 1 21795303 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_E86K,Missense_E86K,Silent,Missense_E30K 1:21795369-GA 1 21795369 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_A108T,Missense_A108T,Silent,Missense_A52T exm27955 1 21795375 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_R110W,Missense_R110W,Silent,Missense_R54W rs1827293 1 21795388 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_Y114C,Missense_Y114C,Silent,Missense_Y58C exm27957 1 21795388 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_Y114C,Missense_Y114C,Silent,Missense_Y58C rs16825373 1 21795675 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent JHU_1.21796503 1 21796504 [C/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent rs7537914 1 21796616 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent exm27961 1 21797204 [C/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_E141D,Missense_E141D,Missense_E71D,Missense_E85D exm27963 1 21797221 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_E147G,Missense_E147G,Missense_E77G,Missense_E91G rs10158335 1 21798370 [T/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent chr1_21799359 1 21799359 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_D229N,Missense_D229N,Missense_D159N,Missense_D173N chr1_21799393 1 21799393 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_E240G,Missense_E240G,Missense_E170G,Missense_E184G newrs11584459 1 21799413 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent exm27993 1 21799979 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_G281R,Missense_G281R,Missense_G211R,Missense_G225R chr1_21800045 1 21800045 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_D303N,Missense_D303N,Missense_D233N,Missense_D247N indel.1508 1 21800057 [D/I] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON variant.1509 1 21800078 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_E314K,Missense_E314K,Missense_E244K,Missense_E258K 1:21801393-AG 1 21801393 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_E314G,Missense_E314G,Missense_E244G,Missense_E258G 1:21801436-TGTCTCCCAG-T 1 21801436 [D/I] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON exm28004 1 21801440 [C/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_P330A,Missense_P330A,Missense_P260A,Missense_P274A 1:21801444-G-GT 1 21801444 [I/D] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON exm28008 1 21801444 [T/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_R331I,Missense_R331M,Missense_R261M,Missense_R275M 1:21804620-CT 1 21804620 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_P351S,Silent,Silent,Silent 1:21804697-GT 1 21804697 [T/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Silent,Missense_W351C,Missense_W281C,Missense_W295C rs4654947 1 21805048 [T/C] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent rs147291121 1 21805563 [A/G] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent,Silent indel.1510 1 21805862 [I/D] NR_046176,NM_001256416,NM_032264,NM_001256417,NM_001330381 NBPF3,NBPF3,NBPF3,NBPF3,NBPF3 EXON rs2316851 1 21815174 [A/G] rs904927 1 21815660 [T/C] rs72659146 1 21816052 [T/C] 1:21817365-A-G 1 21817365 [A/G] 1:21818530-T-C 1 21818530 [T/C] rs10799701 1 21820990 [A/G] JHU_1.21821563 1 21821564 [A/G] rs1780324 1 21821757 [A/G] exm-rs1780324 1 21821757 [A/G] 1:21822227-G-C 1 21822227 [C/G] JHU_1.21822698 1 21822699 [A/G] rs1697421 1 21823292 [T/C] exm-rs1697421 1 21823292 [T/C] rs6667242 1 21826566 [A/G] rs113363675 1 21827796 [T/G] 1:21832268-T-C 1 21832268 [T/C] JHU_1.21833224 1 21833225 [T/C] 1:21835607-C-G 1 21835607 [G/C] rs16825455 1 21837755 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs869179 1 21840129 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs12116444 1 21842892 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs74614333 1 21844524 [A/T] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent 1:21844861-C-T 1 21844861 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs75394487 1 21845402 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent JHU_1.21848961 1 21848962 [A/T] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs9628653 1 21848962 [A/T] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent 1:21849395-T-C 1 21849395 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent 1:21850131-A-G 1 21850131 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs1256323 1 21851312 [T/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent JHU_1.21854838 1 21854839 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs192002531 1 21858167 [C/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs1256348 1 21859210 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent JHU_1.21863708 1 21863709 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs10917006 1 21864206 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent 1:21864463-T-C 1 21864463 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent JHU_1.21865229 1 21865230 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs117071379 1 21866444 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs12565845 1 21866625 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs118003755 1 21867852 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs12127343 1 21869773 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent 1:21870774-G-A 1 21870774 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs115626047 1 21873261 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent JHU_1.21874580 1 21874581 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs885814 1 21875916 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs885813 1 21877074 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent 1:21882595-C-T 1 21882595 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent JHU_1.21882594 1 21882595 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs17421553 1 21883742 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs3767155 1 21885195 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent 1:21885333-C-T 1 21885333 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs56019406 1 21885560 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent 1:21885578-C-T 1 21885578 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent 1:21887155-C-T 1 21887155 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Silent,Missense_A33V,Silent rs121918005 1 21887155 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Silent,Missense_A33V,Silent newrs143358506 1 21887167 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Silent,Missense_L37P,Silent Variant48117 1 21887176 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Silent,Missense_A40V,Missense_P2S 1:21887229-CA 1 21887229 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_L3M,Missense_L58M,Synonymous_S19S 1:21887619-C-T 1 21887619 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R16C,Missense_R71C,Silent rs121918001 1 21887619 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R16C,Missense_R71C,Silent 1:21887620-G-C 1 21887620 [G/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R16P,Missense_R71P,Silent rs121918003 1 21887620 [G/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R16P,Missense_R71P,Silent exm28108 1 21887629 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_K19R,Missense_K74R,Silent rs1780316 1 21889635 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Synonymous_S55S,Synonymous_S110S,Synonymous_S33S Variant48119 1 21889636 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_A56T,Missense_A111T,Missense_A34T rs121918013 1 21889651 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_A61T,Missense_A116T,Missense_A39T 1:21889651-G-A 1 21889651 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_A61T,Missense_A116T,Missense_A39T 1:21889663-TGG-T 1 21889663 [D/I] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Variant48121 1 21889706 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_T79N,Missense_T134N,Missense_T57N rs121918011 1 21889712 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R81H,Missense_R136H,Missense_R59H 1:21889712-G-A 1 21889712 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R81H,Missense_R136H,Missense_R59H exm28122 1 21889718 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R83Q,Missense_R138Q,Missense_R61Q exm28124 1 21889741 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_E91K,Missense_E146K,Missense_E69K exm28126 1 21889759 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R97C,Missense_R152C,Missense_R75C 1:21889760-GA 1 21889760 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R97H,Missense_R152H,Missense_R75H 1:21889899-A-G 1 21889899 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs143655090 1 21890314 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs74059651 1 21890383 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs1256335 1 21890386 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent JHU_1.21890463 1 21890464 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent 1:21890546-G-T 1 21890546 [T/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_G107V,Missense_G162V,Missense_G85V Variant48126 1 21890573 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_H116R,Missense_H171R,Missense_H94R 1:21890579-AC-A 1 21890579 [D/I] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON 1:21890587-G-A 1 21890587 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_A121T,Missense_A176T,Missense_A99T exm28129 1 21890590 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_A122T,Missense_A177T,Missense_A100T Variant37768 1 21890595 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Synonymous_Y123Y,Synonymous_Y178Y,Synonymous_Y101Y 1:21890596-G-A 1 21890596 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_A124T,Missense_A179T,Missense_A102T Variant48129 1 21890603 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_S126L,Missense_S181L,Missense_S104L ilmnseq_rs121918007 1 21890632 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_E136K,Missense_E191K,Missense_E114K rs121918007 1 21890632 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_E136K,Missense_E191K,Missense_E114K exm28131 1 21890632 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_E136K,Missense_E191K,Missense_E114K Variant48131 1 21890636 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_M137T,Missense_M192T,Missense_M115T 1:21890681-A-C 1 21890681 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_Q152P,Missense_Q207P,Missense_Q130P rs121918004 1 21890681 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_Q152P,Missense_Q207P,Missense_Q130P exm28137 1 21890709 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Synonymous_D161D,Synonymous_D216D,Synonymous_D139D variant.1520 1 21890710 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs74059652 1 21892537 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent JHU_1.21892619 1 21892620 [C/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs3767150 1 21894214 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent Variant48132 1 21894603 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_M164V,Missense_M219V,Missense_M142V Variant15875 1 21894605 [D/I] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Variant48133 1 21894606 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_G165R,Missense_G220R,Missense_G143R Variant48135 1 21894610 [T/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_G166V,Missense_G221V,Missense_G144V Variant48136 1 21894615 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R168W,Missense_R223W,Missense_R146W Variant48137 1 21894616 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R168Q,Missense_R223Q,Missense_R146Q Variant48138 1 21894625 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_M171T,Missense_M226T,Missense_M149T exm28140 1 21894682 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_T190M,Missense_T245M,Missense_T168M 1:21894694-G-T 1 21894694 [T/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_G194V,Missense_G249V,Missense_G172V rs121918018 1 21894694 [T/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_G194V,Missense_G249V,Missense_G172V exm28144 1 21894735 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_Y208H,Missense_Y263H,Missense_Y186H 1:21894785-G-T 1 21894785 [T/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs1256329 1 21895977 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent JHU_1.21896052 1 21896053 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs1256328 1 21896767 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent exm28147 1 21896819 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R217C,Missense_R272C,Missense_R195C exm28148 1 21896823 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_T218M,Missense_T273M,Missense_T196M rs148405563 1 21896823 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_T218M,Missense_T273M,Missense_T196M rs10917018 1 21899144 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs1780320 1 21899491 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs121918002 1 21900176 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_D239A,Missense_D294A,Missense_D217A exm28158 1 21900176 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_D239A,Missense_D294A,Missense_D217A Variant48143 1 21900186 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Nonsense_Y242X,Nonsense_Y297X,Nonsense_Y220X Variant48146 1 21900226 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_E256K,Missense_E311K,Missense_E234K Variant48147 1 21900272 [T/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_G271V,Missense_G326V,Missense_G249V Variant15876 1 21900273 [I/D] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON rs121918010 1 21900274 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_F272L,Missense_F327L,Missense_F250L 1:21900274-T-C 1 21900274 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_F272L,Missense_F327L,Missense_F250L ilmnseq_rs121918010 1 21900274 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_F272L,Missense_F327L,Missense_F250L Variant48149 1 21900275 [T/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_F272C,Missense_F327C,Missense_F250C 1:21900420-A-G 1 21900420 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent 1:21901025-T-TAC 1 21901025 [D/I] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL 1:21901938-G-A 1 21901938 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent ilmnseq_rs121918009 1 21902229 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_G279D,Missense_G334D,Missense_G257D 1:21902229-G-A 1 21902229 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_G279D,Missense_G334D,Missense_G257D Variant37769 1 21902242 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Synonymous_H283H,Synonymous_H338H,Synonymous_H261H Variant48150 1 21902348 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_V319M,Missense_V374M,Missense_V297M 1:21902361-A-T 1 21902361 [T/A] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_D323V,Missense_D378V,Missense_D301V ilmnseq_rs121918008 1 21902361 [T/A] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_D323V,Missense_D378V,Missense_D301V Variant15877 1 21902394 [D/I] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Variant48153 1 21902394 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_T334N,Missense_T389N,Missense_T312N 1:21902436-G-T 1 21902436 [T/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs1780329 1 21902950 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent rs121918014 1 21903075 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_N362S,Missense_N417S,Missense_N340S 1:21903075-A-G 1 21903075 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_N362S,Missense_N417S,Missense_N340S Variant48156 1 21903101 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_G371S,Missense_G426S,Missense_G349S Variant48157 1 21903107 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Nonsense_R373X,Nonsense_R428X,Nonsense_R351X 1:21903131-T-C 1 21903131 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_Y381H,Missense_Y436H,Missense_Y359H 1:21903637-A-C 1 21903637 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL Silent,Silent,Silent Variant15878 1 21903879 [I/D] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Variant48158 1 21903894 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_A388E,Missense_A443E,Missense_A366E Variant48160 1 21903914 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R395C,Missense_R450C,Missense_R373C Variant48161 1 21903915 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_R395H,Missense_R450H,Missense_R373H Variant48162 1 21903929 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_G400S,Missense_G455S,Missense_G378S 1:21903932-G-A 1 21903932 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_G401R,Missense_G456R,Missense_G379R exm28184 1 21903947 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_V406I,Missense_V461I,Missense_V384I Variant48163 1 21903966 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_M412T,Missense_M467T,Missense_M390T 1:21904071-CT 1 21904071 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Missense_S447L,Missense_S502L,Missense_S425L ilmnseq_rs387906525 1 21904125 [I/D] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON rs1697406 1 21904267 [A/G] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Silent,Silent,Silent rs1772719 1 21904374 [A/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Silent,Silent,Silent rs2242420 1 21904529 [T/C] NM_001127501,NM_000478,NM_001177520 ALPL,ALPL,ALPL EXON Silent,Silent,Silent rs36053309 1 21905604 [T/C] rs72659191 1 21906599 [A/C] 1:21907604-G-A 1 21907604 [A/G] 1:21908062-C-T 1 21908062 [T/C] 1:21909618-C-T 1 21909618 [T/C] rs12124283 1 21910890 [T/C] JHU_1.21913696 1 21913697 [T/C] 1:21913986-C-T 1 21913986 [T/C] rs1256279 1 21914362 [T/C] rs77993249 1 21917050 [T/C] rs10917021 1 21917234 [T/C] 1:21917533-G-A 1 21917533 [A/G] rs77802993 1 21917604 [T/C] 1:21918444-C-G 1 21918444 [G/C] rs9426768 1 21918912 [A/G] JHU_1.21919411 1 21919412 [A/C] JHU_1.21920941 1 21920942 [G/C] rs829391 1 21921058 [A/G] rs7515386 1 21921736 [A/G] rs151112749 1 21921823 [G/C] exm28202 1 21924217 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_C655Y,Missense_C681Y,Missense_C748Y,Missense_C727Y,Missense_C663Y,Missense_C740Y,Missense_C689Y,Missense_C663Y,Missense_C689Y 1:21924501-CT 1 21924501 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_E638K,Missense_E664K,Missense_E731K,Missense_E710K,Missense_E646K,Missense_E723K,Missense_E672K,Missense_E646K,Missense_E672K exm28209 1 21924509 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A635V,Missense_A661V,Missense_A728V,Missense_A707V,Missense_A643V,Missense_A720V,Missense_A669V,Missense_A643V,Missense_A669V 1:21924527-CT 1 21924527 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_G629D,Missense_G655D,Missense_G722D,Missense_G701D,Missense_G637D,Missense_G714D,Missense_G663D,Missense_G637D,Missense_G663D exm28213 1 21924530 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A628V,Missense_A654V,Missense_A721V,Missense_A700V,Missense_A636V,Missense_A713V,Missense_A662V,Missense_A636V,Missense_A662V exm28214 1 21924531 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A628T,Missense_A654T,Missense_A721T,Missense_A700T,Missense_A636T,Missense_A713T,Missense_A662T,Missense_A636T,Missense_A662T exm28215 1 21924545 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Silent,Silent,Missense_S716L,Missense_S695L,Missense_S631L,Silent,Missense_S657L,Missense_S631L,Missense_S657L exm28218 1 21924946 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_Y609C,Missense_Y635C,Missense_Y694C,Missense_Y673C,Missense_Y609C,Missense_Y694C,Missense_Y635C,Missense_Y609C,Missense_Y635C exm28220 1 21924961 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R604Q,Missense_R630Q,Missense_R689Q,Missense_R668Q,Missense_R604Q,Missense_R689Q,Missense_R630Q,Missense_R604Q,Missense_R630Q rs10917023 1 21925603 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm28225 1 21926031 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_V578M,Missense_V604M,Missense_V663M,Missense_V642M,Missense_V578M,Missense_V663M,Missense_V604M,Missense_V578M,Missense_V604M exm28227 1 21926063 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R567H,Missense_R593H,Missense_R652H,Missense_R631H,Missense_R567H,Missense_R652H,Missense_R593H,Missense_R567H,Missense_R593H exm28232 1 21926097 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A556T,Missense_A582T,Missense_A641T,Missense_A620T,Missense_A556T,Missense_A641T,Missense_A582T,Missense_A556T,Missense_A582T exm28233 1 21926100 [A/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A555S,Missense_A581S,Missense_A640S,Missense_A619S,Missense_A555S,Missense_A640S,Missense_A581S,Missense_A555S,Missense_A581S rs72660313 1 21926600 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21926716-C-T 1 21926716 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21927419-G-A 1 21927419 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs829369 1 21927807 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12759525 1 21927848 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21927860-T-C 1 21927860 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21928343 1 21928344 [G/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21929259 1 21929260 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs375459852 1 21929709 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21929792-G-A 1 21929792 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21930309-CT 1 21930309 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Silent,Silent,Missense_A509T,Silent,Silent,Missense_A509T,Silent,Silent,Silent 1:21930389-CA 1 21930389 [A/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Silent,Missense_G482V,Missense_G482V,Silent,Silent,Missense_G482V,Missense_G482V,Silent,Missense_G482V 1:21932596-GA 1 21932596 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A464V,Missense_A464V,Missense_A464V,Missense_A528V,Missense_A464V,Missense_A464V,Missense_A464V,Missense_A464V,Missense_A464V exm28267 1 21932618 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_T457P,Missense_T457P,Missense_T457P,Missense_T521P,Missense_T457P,Missense_T457P,Missense_T457P,Missense_T457P,Missense_T457P 1:21932681-GA 1 21932681 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R436W,Missense_R436W,Missense_R436W,Missense_R500W,Missense_R436W,Missense_R436W,Missense_R436W,Missense_R436W,Missense_R436W 1:21933467-T-C 1 21933467 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs59506938 1 21934494 [C/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21934678-C-G 1 21934678 [C/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72660316 1 21934693 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21934705-CA 1 21934705 [A/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm28277 1 21934818 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_E395G,Missense_E395G,Missense_E395G,Missense_E459G,Missense_E395G,Missense_E395G,Missense_E395G,Missense_E395G,Missense_E395G rs3817041 1 21935705 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21936088-CA 1 21936088 [A/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_D351Y,Missense_D351Y,Missense_D351Y,Missense_D415Y,Missense_D351Y,Missense_D351Y,Missense_D351Y,Missense_D351Y,Missense_D351Y 1:21936700-G-A 1 21936700 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Synonymous_F304F,Synonymous_F304F,Synonymous_F304F,Synonymous_F368F,Synonymous_F304F,Synonymous_F304F,Synonymous_F304F,Synonymous_F304F,Synonymous_F304F JHU_1.21936908 1 21936909 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm28301 1 21938009 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R260H,Missense_R260H,Missense_R260H,Missense_R324H,Missense_R260H,Missense_R260H,Missense_R260H,Missense_R260H,Missense_R260H var_1_21938209 1 21938209 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_G238E,Missense_G238E,Missense_G238E,Missense_G302E,Missense_G238E,Missense_G238E,Missense_G238E,Missense_G238E,Missense_G238E exm28306 1 21938261 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_V221M,Missense_V221M,Missense_V221M,Missense_V285M,Missense_V221M,Missense_V221M,Missense_V221M,Missense_V221M,Missense_V221M variant.1540 1 21938304 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Synonymous_S206S,Synonymous_S206S,Synonymous_S206S,Synonymous_S270S,Synonymous_S206S,Synonymous_S206S,Synonymous_S206S,Synonymous_S206S,Synonymous_S206S exm28316 1 21938562 [G/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_S190T,Missense_S190T,Missense_S190T,Missense_S254T,Missense_S190T,Missense_S190T,Missense_S190T,Missense_S190T,Missense_S190T exm28317 1 21938584 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_T183A,Missense_T183A,Missense_T183A,Missense_T247A,Missense_T183A,Missense_T183A,Missense_T183A,Missense_T183A,Missense_T183A 1:21938828-G-A 1 21938828 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs947334 1 21938897 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9426673 1 21938923 [A/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2275363 1 21940555 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A107T,Missense_A107T,Missense_A107T,Missense_A171T,Missense_A107T,Missense_A107T,Missense_A107T,Missense_A107T,Missense_A107T exm28334 1 21940555 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A107T,Missense_A107T,Missense_A107T,Missense_A171T,Missense_A107T,Missense_A107T,Missense_A107T,Missense_A107T,Missense_A107T rs79714367 1 21942971 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21943872-TC 1 21943872 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_Q73R,Missense_Q73R,Missense_Q73R,Missense_Q137R,Missense_Q73R,Missense_Q73R,Missense_Q73R,Missense_Q73R,Missense_Q73R chr1_21943878 1 21943878 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_P71L,Missense_P71L,Missense_P71L,Missense_P135L,Missense_P71L,Missense_P71L,Missense_P71L,Missense_P71L,Missense_P71L rs1318235 1 21944397 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21944396 1 21944397 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21944412 1 21944413 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_21946503 1 21946503 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72660329 1 21946881 [T/A] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21947034 1 21947035 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs112324778 1 21947035 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs729648 1 21947720 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs829406 1 21949462 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs150476270 1 21950859 [G/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21952802-GT 1 21952802 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Silent,Silent,Silent,Missense_P57T,Silent,Silent,Silent,Silent,Silent rs1130564 1 21952884 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Silent,Silent,Silent,Synonymous_S29S,Silent,Silent,Silent,Silent,Silent 1:21953051-G-A 1 21953051 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21953145 1 21953146 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7354914 1 21953287 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs829412 1 21953436 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12567723 1 21954666 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9426770 1 21955744 [C/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21955913-A-T 1 21955913 [T/A] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21956665-G-T 1 21956665 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12096656 1 21957467 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116503681 1 21957666 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11591167 1 21958536 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6671920 1 21960032 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12142081 1 21966833 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6426721 1 21972480 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21974544 1 21974545 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21974975 1 21974976 [C/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21975180-C-G 1 21975180 [G/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16825755 1 21975214 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21975491 1 21975492 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21976264-GA 1 21976264 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Silent,Silent,Silent,Missense_R24W,Silent,Silent,Silent,Silent,Silent exm28371 1 21976289 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP EXON Silent,Silent,Silent,Synonymous_G15G,Silent,Silent,Silent,Silent,Silent 1:21977079-C-A 1 21977079 [A/C] NM_001350528,NM_001145657,NM_001330383,NM_001145658,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21979446-G-T 1 21979446 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21979445 1 21979446 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21980324 1 21980325 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs829404 1 21983611 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21983893-G-T 1 21983893 [T/G] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21986832 1 21986833 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77065853 1 21988330 [G/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs829373 1 21988563 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6693446 1 21988976 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:21989043-C-T 1 21989043 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs117692857 1 21989401 [G/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21990772 1 21990773 [T/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.21991234 1 21991235 [G/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs710948 1 21992600 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116713929 1 21992878 [A/G] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12125201 1 21992949 [A/T] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs829377 1 21993170 [A/C] NM_001350528,NM_001145657,NM_001330383,NM_001350527,NM_001350524,NM_001350526,NM_002885,NM_001350525 RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs113214346 1 21996845 [T/C] rs3738091 1 21997282 [A/G] rs74895017 1 21998818 [T/C] rs117388451 1 21999494 [G/C] rs3818942 1 22000026 [A/G] rs16825800 1 22003666 [G/C] rs829397 1 22004400 [A/G] rs72660363 1 22007443 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs114773892 1 22008203 [G/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs12404648 1 22008798 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs117643906 1 22011430 [T/A] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs148915775 1 22012101 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs67177030 1 22012159 [A/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs10493008 1 22013771 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.22015359 1 22015360 [A/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs80052968 1 22019126 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs185652174 1 22019569 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs3767133 1 22020152 [T/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.22021101 1 22021102 [A/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs76453715 1 22023262 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs35196659 1 22024259 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs116009720 1 22025098 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs78693879 1 22027919 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent exm28409 1 22028029 [A/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_A896S,Missense_A895S,Missense_A830S,Missense_A896S,Missense_A897S,Missense_A897S 1:22028095-CT 1 22028095 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_V874M,Missense_V873M,Missense_V808M,Missense_V874M,Missense_V875M,Missense_V875M rs16825842 1 22028804 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent variant.1547 1 22030755 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_K838E,Missense_K837E,Missense_K772E,Missense_K838E,Missense_K839E,Missense_K839E exm28422 1 22030875 [A/T] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_I798L,Missense_I797L,Missense_I732L,Missense_I798L,Missense_I799L,Missense_I799L exm28423 1 22030884 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_I795V,Missense_I794V,Missense_I729V,Missense_I795V,Missense_I796V,Missense_I796V rs146416153 1 22031516 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent 1:22032659-CT 1 22032659 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_V744M,Missense_V743M,Missense_V678M,Missense_V744M,Missense_V745M,Missense_V745M JHU_1.22033227 1 22033228 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs333171 1 22033705 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.22035859 1 22035860 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs482791 1 22036256 [A/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.22037288 1 22037289 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs76367513 1 22038066 [A/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs333188 1 22040294 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent exm28443 1 22041883 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Synonymous_H653H,Synonymous_H652H,Synonymous_H587H,Synonymous_H653H,Synonymous_H654H,Synonymous_H654H JHU_1.22044559 1 22044560 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs10799708 1 22046558 [A/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent exm28448 1 22047655 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_D589N,Missense_D588N,Missense_D523N,Missense_D589N,Missense_D590N,Missense_D590N rs12030578 1 22048664 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs6426724 1 22049667 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent exm1762696 1 22050463 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_I526V,Missense_I525V,Silent,Missense_I525V,Missense_I526V,Missense_I526V exm28452 1 22050466 [T/A] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_S525T,Missense_S524T,Silent,Missense_S524T,Missense_S525T,Missense_S525T 1:22050606-GA 1 22050606 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent 1:22050649-CA 1 22050649 [A/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs6702312 1 22052814 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent rs16825895 1 22054262 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394 USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent exm28459 1 22055176 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_K446R,Missense_K445R,Missense_K445R,Missense_K445R,Missense_K446R,Missense_K446R,Missense_K446R JHU_1.22070608 1 22070609 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs138427966 1 22073859 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.1549 1 22074689 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Nonsense_R284X,Nonsense_R284X,Nonsense_R284X,Nonsense_R284X,Nonsense_R284X,Nonsense_R284X,Nonsense_R284X JHU_1.22074992 1 22074993 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2315931 1 22076705 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm28476 1 22078023 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_D251N,Missense_D251N,Missense_D251N,Missense_D251N,Missense_D251N,Missense_D251N,Missense_D251N exm28477 1 22078103 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_N224S,Missense_N224S,Missense_N224S,Missense_N224S,Missense_N224S,Missense_N224S,Missense_N224S 1:22079591-CT 1 22079591 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_C145Y,Missense_C145Y,Missense_C145Y,Missense_C145Y,Missense_C145Y,Missense_C145Y,Missense_C145Y rs149019624 1 22080960 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm28485 1 22083068 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_M128T,Missense_M128T,Missense_M128T,Missense_M128T,Missense_M128T,Missense_M128T,Missense_M128T rs16825927 1 22088379 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs35994880 1 22098613 [A/G] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs149568677 1 22099436 [I/D] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 1:22109326-CT 1 22109326 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_G42D,Missense_G42D,Missense_G42D,Missense_G42D,Missense_G42D,Missense_G42D,Missense_G42D 1:22109346-CT 1 22109346 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Nonsense_W35X,Nonsense_W35X,Nonsense_W35X,Nonsense_W35X,Nonsense_W35X,Nonsense_W35X,Nonsense_W35X 1:22109386-TC 1 22109386 [T/C] NM_001350168,NM_001350166,NM_001350164,NM_001350167,NM_032236,NM_001330394,NM_001032730 USP48,USP48,USP48,USP48,USP48,USP48,USP48 EXON Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G rs884726 1 22110418 [T/C] rs114661372 1 22117934 [T/C] rs138610210 1 22125841 [T/C] rs7518006 1 22127992 [A/G] rs36008135 1 22137881 [A/G] rs79500108 1 22140329 [A/G] NM_001013693 LDLRAD2 Silent rs13374837 1 22140348 [T/C] NM_001013693 LDLRAD2 Silent 1:22141176-GA 1 22141176 [A/G] NM_001013693 LDLRAD2 EXON Missense_R124Q 1:22141179-CT 1 22141179 [T/C] NM_001013693 LDLRAD2 EXON Missense_P125L exm28511 1 22141206 [A/C] NM_001013693 LDLRAD2 EXON Missense_N134T exm2273624 1 22141269 [T/G] NM_001013693 LDLRAD2 EXON Missense_R155L rs2010397 1 22141983 [T/C] NM_001013693 LDLRAD2 Silent exm28515 1 22142456 [T/C] NM_001013693 LDLRAD2 EXON Missense_R178C 1:22142462-CT 1 22142462 [T/C] NM_001013693 LDLRAD2 EXON Nonsense_Q180X exm28520 1 22142525 [A/G] NM_001013693 LDLRAD2 EXON Missense_D201N rs35198742 1 22143196 [A/C] NM_001013693 LDLRAD2 Silent JHU_1.22144800 1 22144801 [A/G] NM_001013693 LDLRAD2 Silent JHU_1.22146177 1 22146178 [T/G] NM_001013693 LDLRAD2 Silent variant.1553 1 22147942 [T/G] NM_001013693 LDLRAD2 Silent 1:22148020-GA 1 22148020 [A/G] NM_001013693 LDLRAD2 EXON Missense_G241R 1:22148053-AG 1 22148053 [A/G] NM_001013693 LDLRAD2 EXON Missense_R252G JHU_1.22149072 1 22149073 [A/G] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Silent,Silent chr1_22149849 1 22149849 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_R4379H,Missense_R4380H 1:22149883-CT 1 22149883 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_A4368T,Missense_A4369T 1:22149948-CT 1 22149948 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_G4346D,Missense_G4347D exm28537 1 22149952 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_G4345R,Missense_G4346R exm28539 1 22149967 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_V4340M,Missense_V4341M JHU_1.22150117 1 22150118 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_V4332I,Missense_V4333I exm28543 1 22150118 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_V4332I,Missense_V4333I exm28545 1 22150120 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_S4331N,Missense_S4332N rs114015043 1 22150130 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_A4328T,Missense_A4329T exm28552 1 22150183 [T/G] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_D4310A,Missense_D4311A exm28556 1 22150627 [C/G] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_V4296L,Missense_V4297L 1:22150629-CT 1 22150629 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_R4295Q,Missense_R4296Q 1:22150630-GA 1 22150630 [A/G] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_R4295W,Missense_R4296W exm28557 1 22150639 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_E4292K,Missense_E4293K exm28558 1 22150671 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_R4281H,Missense_R4282H exm2250773 1 22150813 [A/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Synonymous_G4267G,Synonymous_G4268G 1:22151255-CT 1 22151255 [T/C] NM_001013693,NM_005529,NM_001291860 LDLRAD2,HSPG2,HSPG2 EXON Silent,Missense_G4203R,Missense_G4204R rs12040859 1 22152194 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22154364-CA 1 22154364 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G4194V,Missense_G4195V exm28574 1 22154365 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G4194R,Missense_G4195R exm28590 1 22154900 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R4086Q,Missense_R4087Q exm28591 1 22154901 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R4086W,Missense_R4087W 1:22155344-CT 1 22155344 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R4074H,Missense_R4075H exm28593 1 22155345 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R4074C,Missense_R4075C exm28595 1 22155353 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A4071V,Missense_A4072V 1:22155405-GT 1 22155405 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_L4054M,Missense_L4055M 1:22155414-GT 1 22155414 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_L4051M,Missense_L4052M 1:22155431-CA 1 22155431 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G4045V,Missense_G4046V chr1_22155525 1 22155525 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_H4014Y,Missense_H4015Y exm28609 1 22155886 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E3994D,Missense_E3995D 1:22155930-CT 1 22155930 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3980M,Missense_V3981M exm2275432 1 22156005 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3955L,Missense_V3956L exm28622 1 22156020 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E3950K,Missense_E3951K exm28624 1 22156041 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3943T,Missense_A3944T 1:22156510-GA 1 22156510 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3916C,Missense_R3917C exm28634 1 22156531 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T3909P,Missense_T3910P 1:22156552-GA 1 22156552 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3902W,Missense_R3903W 1:22157517-CT 1 22157517 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G3877R,Missense_G3878R exm28651 1 22157724 [G/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3849P,Missense_R3850P exm28652 1 22157754 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3839V,Missense_A3840V 1:22157757-GA 1 22157757 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T3838M,Missense_T3839M exm28655 1 22157788 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E3828K,Missense_E3829K rs185442868 1 22158219 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3760M,Missense_V3761M exm28673 1 22158219 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3760M,Missense_V3761M rs114342311 1 22158989 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3736W,Missense_R3737W exm2250777 1 22159008 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_V3729V,Synonymous_V3730V 1:22159010-CT 1 22159010 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3729M,Missense_V3730M 1:22159046-CT 1 22159046 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3717T,Missense_A3718T 1:22159764-CT 1 22159764 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_D3698N,Missense_D3699N exm2232532 1 22159778 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3693Q,Missense_R3694Q exm28692 1 22159779 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3693W,Missense_R3694W exm28693 1 22159784 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T3691I,Missense_T3692I exm28697 1 22159838 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_F3673S,Missense_F3674S 1:22159856-GA 1 22159856 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T3667M,Missense_T3668M rs112062179 1 22160001 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3646H,Missense_R3647H exm28701 1 22160001 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3646H,Missense_R3647H exm1763213 1 22160011 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3643T,Missense_A3644T exm28704 1 22160020 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3640I,Missense_V3641I exm28706 1 22160043 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3632Q,Missense_R3633Q rs7547731 1 22160148 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22160385-CT 1 22160385 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3585H,Missense_R3586H indel.1559 1 22160419 [I/D] NM_005529,NM_001291860 HSPG2,HSPG2 rs115616224 1 22161190 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3568I,Missense_V3569I exm28720 1 22161190 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3568I,Missense_V3569I exm28728 1 22161283 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G3537R,Missense_G3538R rs2270699 1 22161304 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3530W,Missense_R3531W 1:22161304-GA 1 22161304 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3530W,Missense_R3531W exm28732 1 22161367 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E3509K,Missense_E3510K exm28735 1 22161394 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3500M,Missense_V3501M rs143543800 1 22161394 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3500M,Missense_V3501M 1:22161411-CT 1 22161411 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3494Q,Missense_R3495Q rs144411636 1 22161432 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P3487H,Missense_P3488H 1:22161493-GA 1 22161493 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22162121-GA 1 22162121 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_N3455N,Synonymous_N3456N 1:22163304-CA 1 22163304 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G3449V,Missense_G3450V 1:22163322-CA 1 22163322 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G3443V,Missense_G3444V chr1_22163329 1 22163329 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P3441S,Missense_P3442S 1:22163356-GA 1 22163356 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3432C,Missense_R3433C exm28745 1 22163370 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3427Q,Missense_R3428Q 1:22163401-CT 1 22163401 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3417I,Missense_V3418I Variant48164 1 22163402 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_S3416S,Synonymous_S3417S exm28750 1 22163436 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T3405M,Missense_T3406M exm28761 1 22165372 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3366W,Missense_R3367W 1:22165407-CT 1 22165407 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3354H,Missense_R3355H exm28772 1 22165528 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E3314K,Missense_E3315K exm28779 1 22165894 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3287T,Missense_A3288T exm28782 1 22165963 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_I3264V,Missense_I3265V exm28783 1 22165983 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3257Q,Missense_R3258Q exm28784 1 22165987 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_H3256Y,Missense_H3257Y exm28787 1 22166034 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3240V,Missense_A3241V JHU_1.22166033 1 22166034 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3240V,Missense_A3241V exm28796 1 22166460 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q3188H,Missense_Q3189H exm28800 1 22167605 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A3168T,Missense_A3169T exm28801 1 22167631 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R3159Q,Missense_R3160Q exm28802 1 22167695 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G3138R,Missense_G3139R exm28808 1 22168033 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_H3109H,Synonymous_H3110H exm28816 1 22168125 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V3079M,Missense_V3080M exm28827 1 22168801 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S2995G,Missense_S2996G exm28831 1 22168843 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V2981I,Missense_V2982I 1:22168855-GA 1 22168855 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2977W,Missense_R2978W rs114851469 1 22168855 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2977W,Missense_R2978W exm28835 1 22169273 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A2967V,Missense_A2968V exm28840 1 22169325 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G2950R,Missense_G2951R 1:22169397-GT 1 22169397 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P2926T,Missense_P2927T 1:22169859-CT 1 22169859 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G2897R,Missense_G2898R exm28854 1 22170648 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2870Q,Missense_R2871Q exm28855 1 22170652 [G/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A2869P,Missense_A2870P rs139838884 1 22170652 [G/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A2869P,Missense_A2870P exm28857 1 22170681 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T2859M,Missense_T2860M exm28862 1 22170712 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V2849L,Missense_V2850L rs147114700 1 22170712 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V2849L,Missense_V2850L rs188101458 1 22171221 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs61519325 1 22172234 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent Variant48165 1 22172601 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A2822T,Missense_A2823T exm28873 1 22172684 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2794Q,Missense_R2795Q 1:22172711-GA 1 22172711 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P2785L,Missense_P2786L 1:22172729-CT 1 22172729 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2779Q,Missense_R2780Q exm28880 1 22172735 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2777Q,Missense_R2778Q rs188987688 1 22172969 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2763H,Missense_R2764H 1:22172969-CT 1 22172969 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2763H,Missense_R2764H 1:22173045-CT 1 22173045 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V2738M,Missense_V2739M exm28894 1 22173855 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S2719N,Missense_S2720N 1:22173907-ATGT-A 1 22173907 [I/D] NM_005529,NM_001291860 HSPG2,HSPG2 EXON exm1763355 1 22173966 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2682Q,Missense_R2683Q rs142458572 1 22173967 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2682W,Missense_R2683W exm28905 1 22173967 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2682W,Missense_R2683W 1:22174247-CT 1 22174247 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A2654T,Missense_A2655T exm28911 1 22174253 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V2652M,Missense_V2653M 1:22174345-CT 1 22174345 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent Variant12336 1 22174396 [I/D] NM_005529,NM_001291860 HSPG2,HSPG2 1:22174414-GA 1 22174414 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm28921 1 22174457 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S2623P,Missense_S2624P rs142226974 1 22174481 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V2615I,Missense_V2616I exm28924 1 22174498 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2609Q,Missense_R2610Q exm28929 1 22174549 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P2592L,Missense_P2593L rs3767138 1 22174600 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm28932 1 22175151 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_L2574F,Missense_L2575F exm28935 1 22175439 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T2511I,Missense_T2512I exm28936 1 22175460 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2504H,Missense_R2505H rs62642517 1 22175460 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2504H,Missense_R2505H JHU_1.22176001 1 22176002 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm28944 1 22176536 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q2482E,Missense_Q2483E exm2273625 1 22176542 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2480W,Missense_R2481W exm28953 1 22176643 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S2446L,Missense_S2447L exm28959 1 22176684 [A/T] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_A2432A,Synonymous_A2433A rs2290500 1 22176831 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22176867-CA 1 22176867 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G2428V,Missense_G2429V 1:22176870-GA 1 22176870 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A2427V,Missense_A2428V exm28966 1 22176915 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S2412N,Missense_S2413N rs191687773 1 22178067 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2377H,Missense_R2378H exm29001 1 22179244 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G2225S,Missense_G2226S rs12117402 1 22180548 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22180688-GT 1 22180688 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P2146Q,Missense_P2147Q 1:22180716-CT 1 22180716 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G2137S,Missense_G2138S 1:22180754-CA 1 22180754 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G2124V,Missense_G2125V 1:22180772-CT 1 22180772 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2118H,Missense_R2119H 1:22180800-GT 1 22180800 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P2109T,Missense_P2110T 1:22180818-GA 1 22180818 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2103W,Missense_R2104W exm29032 1 22180830 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G2099S,Missense_G2100S exm29047 1 22181258 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A2045V,Missense_A2046V 1:22181472-CT 1 22181472 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R2001Q,Missense_R2002Q 1:22181934-CT 1 22181934 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G1954S,Missense_G1955S exm29075 1 22182055 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1939T,Missense_A1940T 1:22182069-CT 1 22182069 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1934Q,Missense_R1935Q exm29077 1 22182093 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T1926M,Missense_T1927M rs2229474 1 22182115 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1919C,Missense_R1920C 1:22182123-CT 1 22182123 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G1916D,Missense_G1917D exm29080 1 22182124 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G1916S,Missense_G1917S 1:22182145-CA 1 22182145 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1909S,Missense_A1910S 1:22182157-CT 1 22182157 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G1905S,Missense_G1906S exm29088 1 22182333 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1883V,Missense_A1884V 1:22183590-CA 1 22183590 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q1831H,Missense_Q1832H exm29112 1 22183822 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1784C,Missense_R1785C rs150937055 1 22183822 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1784C,Missense_R1785C exm29114 1 22183837 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1779W,Missense_R1780W exm29115 1 22183875 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1766V,Missense_A1767V JHU_1.22184107 1 22184108 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs183254520 1 22184454 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs2124368 1 22185479 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm29117 1 22186113 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T1747P,Missense_T1748P exm29120 1 22186146 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V1736I,Missense_V1737I exm29122 1 22186161 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_L1731F,Missense_L1732F 1:22186421-GA 1 22186421 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1697W,Missense_R1698W rs143523507 1 22186712 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V1658M,Missense_V1659M exm29134 1 22186712 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V1658M,Missense_V1659M newrs139944523 1 22188249 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm29138 1 22188289 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T1639M,Missense_T1640M rs142433309 1 22188289 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T1639M,Missense_T1640M exm29139 1 22188295 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1637H,Missense_R1638H exm29140 1 22188296 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1637C,Missense_R1638C exm29144 1 22188328 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1626H,Missense_R1627H rs41311989 1 22188328 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1626H,Missense_R1627H rs183329264 1 22188532 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T1606M,Missense_T1607M 1:22188593-CT 1 22188593 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1586T,Missense_A1587T 1:22190594-GA 1 22190594 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S1580L,Missense_S1581L 1:22190650-CA 1 22190650 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E1561D,Missense_E1562D exm29155 1 22190679 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G1552R,Missense_G1553R exm29160 1 22191361 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P1534R,Missense_P1535R 1:22191364-GA 1 22191364 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P1533L,Missense_P1534L rs138460117 1 22191473 [A/T] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_F1497I,Missense_F1498I exm29174 1 22191481 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1494Q,Missense_R1495Q 1:22191527-CA 1 22191527 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Nonsense_E1479X,Nonsense_E1480X rs146184130 1 22192290 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G1412S,Missense_G1413S 1:22192290-CT 1 22192290 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G1412S,Missense_G1413S seq-rs745452577 1 22192291 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_Y1411Y,Synonymous_Y1412Y rs56013780 1 22196236 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm2232538 1 22198729 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G1391S,Missense_G1392S exm29189 1 22198768 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E1378K,Missense_E1379K 1:22198803-CT 1 22198803 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1366H,Missense_R1367H exm29192 1 22198822 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_N1360D,Missense_N1361D 1:22199121-GA 1 22199121 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1341C,Missense_R1342C 1:22199148-GT 1 22199148 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q1332K,Missense_Q1333K exm29195 1 22199175 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_L1323V,Missense_L1324V 1:22199449-GA 1 22199449 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm2232539 1 22199498 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q1294K,Missense_Q1295K exm29205 1 22199521 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q1286R,Missense_Q1287R exm29206 1 22199531 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V1283I,Missense_V1284I 1:22199821-G-A 1 22199821 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22199894-TG 1 22199894 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_N1256T,Missense_N1257T rs11587853 1 22200080 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm29215 1 22200454 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1236E,Missense_A1237E exm29220 1 22200998 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1186Q,Missense_R1187Q rs2228348 1 22201462 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_P1112P,Synonymous_P1113P 1:22202132-CT 1 22202132 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1098T,Missense_A1099T exm29240 1 22202144 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A1094T,Missense_A1095T rs78889849 1 22202155 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1090Q,Missense_R1091Q exm29242 1 22202155 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1090Q,Missense_R1091Q rs145498664 1 22202228 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R1066W,Missense_R1067W 1:22202364-AG 1 22202364 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_F1059L,Missense_F1060L 1:22202385-GA 1 22202385 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P1052S,Missense_P1053S exm29252 1 22202483 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P1019L,Missense_P1020L 1:22202856-TG 1 22202856 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_N957H,Missense_N958H 1:22202898-AC 1 22202898 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_L943V,Missense_L944V 1:22203010-CT 1 22203010 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A941T,Missense_A942T rs137904249 1 22203106 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G909S,Missense_G910S exm29276 1 22203106 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G909S,Missense_G910S exm29283 1 22204731 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R878H,Missense_R879H 1:22204944-CT 1 22204944 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G867R,Missense_G868R exm29292 1 22204947 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G866S,Missense_G867S 1:22204968-CT 1 22204968 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E859K,Missense_E860K exm2232540 1 22204974 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G857R,Missense_G858R exm29294 1 22205079 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R850H,Missense_R851H exm29301 1 22205523 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R812Q,Missense_R813Q rs143736974 1 22205601 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_N786S,Missense_N787S exm29306 1 22205601 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_N786S,Missense_N787S exm29307 1 22206608 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_H779Y,Missense_H780Y rs145476116 1 22206617 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V776M,Missense_V777M exm29308 1 22206617 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V776M,Missense_V777M exm29312 1 22206649 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_N765S,Missense_N766S rs143669458 1 22206977 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V692M,Missense_V693M 1:22207017-CA 1 22207017 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Q678H,Missense_Q679H exm29325 1 22207027 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R675Q,Missense_R676Q 1:22207043-CT 1 22207043 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_V670I,Missense_V671I rs377228309 1 22207140 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm29334 1 22207235 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_M638V,Missense_M639V 1:22207276-CT 1 22207276 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R624H,Missense_R625H 1:22207292-GA 1 22207292 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R619C,Missense_R620C exm29344 1 22207318 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_Y610C,Missense_Y611C 1:22207329-CA 1 22207329 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs141879728 1 22207381 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22207875-TC 1 22207875 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_H592R,Missense_H593R 1:22207916-GT 1 22207916 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_H578Q,Missense_H579Q rs2445138 1 22208864 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22211036-GA 1 22211036 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P547S,Missense_P548S 1:22211078-TG 1 22211078 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T533P,Missense_T534P 1:22211126-CT 1 22211126 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A517T,Missense_A518T exm29369 1 22211150 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_H509Y,Missense_H510Y 1:22211395-CT 1 22211395 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E458K,Missense_E458K exm29389 1 22211623 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R413Q,Missense_R413Q 1:22211918-CT 1 22211918 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_G369R,Missense_G369R rs75467696 1 22211941 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T361N,Missense_T361N ilmnseq_rs75467696_ilmndup1 1 22211941 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T361N,Missense_T361N exm29405 1 22211941 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T361N,Missense_T361N rs3753781 1 22212485 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs145115185 1 22213031 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm29412 1 22213821 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_P322L,Missense_P322L 1:22213929-GT 1 22213929 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_S314R,Missense_S314R exm29417 1 22213940 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E311Q,Missense_E311Q exm29419 1 22213993 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R293H,Missense_R293H 1:22214040-GA 1 22214040 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_P277P,Synonymous_P277P 1:22214080-CT 1 22214080 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R264Q,Missense_R264Q exm29428 1 22214082 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_M263I,Missense_M263I exm29429 1 22214101 [C/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R257P,Missense_R257P 1:22214102-GA 1 22214102 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_R257W,Missense_R257W 1:22214119-GA 1 22214119 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T251M,Missense_T251M exm29435 1 22214436 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_N233S,Missense_N233S exm29441 1 22214535 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T200M,Missense_T200M exm29442 1 22214536 [T/A] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_T200S,Missense_T200S Variant37772 1 22215192 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22215193-GA 1 22215193 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent JHU_1.22215972 1 22215973 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs145148633 1 22216046 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22216398-GA 1 22216398 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22216422-GA 1 22216422 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs2254358 1 22216574 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_G158G,Synonymous_G158G 1:22216580-CT 1 22216580 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Synonymous_A156A,Synonymous_A156A exm29469 1 22217095 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_E113K,Missense_E113K JHU_1.22222289 1 22222290 [A/T] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm29479 1 22222455 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_D68E,Missense_D68E exm29481 1 22222718 [A/T] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_H50L,Missense_H50L 1:22222784-GA 1 22222784 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 EXON Missense_A28V,Missense_A28V rs11810496 1 22224102 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22225743-G-C 1 22225743 [G/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs2445142 1 22225743 [G/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent 1:22227091-T-C 1 22227091 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs878949 1 22227091 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs116057418 1 22229768 [A/T] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs16826031 1 22231446 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent JHU_1.22233225 1 22233226 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs1545593 1 22233670 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs7519770 1 22236549 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs2445131 1 22239774 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs12562769 1 22241994 [A/T] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent JHU_1.22244447 1 22244448 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent JHU_1.22248902 1 22248903 [G/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent JHU_1.22249254 1 22249255 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs11579545 1 22249333 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent JHU_1.22249525 1 22249526 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs4233278 1 22251043 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent exm2260014 1 22252262 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs9426790 1 22252790 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent JHU_1.22254087 1 22254088 [T/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs116452354 1 22254558 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent JHU_1.22254647 1 22254648 [T/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs143875378 1 22261786 [G/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent JHU_1.22261917 1 22261918 [A/C] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs78570036 1 22262504 [A/G] NM_005529,NM_001291860 HSPG2,HSPG2 Silent,Silent rs7544500 1 22271839 [T/C] rs7531732 1 22275696 [A/G] JHU_1.22284061 1 22284062 [T/C] rs36106877 1 22284155 [T/C] rs11589754 1 22284495 [T/G] rs75153492 1 22284790 [T/C] rs36070253 1 22285529 [A/G] rs61776316 1 22287510 [A/C] rs6699127 1 22292266 [A/G] rs12740670 1 22293056 [T/G] rs10917079 1 22296307 [A/C] JHU_1.22299965 1 22299966 [A/C] rs114142802 1 22300379 [T/C] JHU_1.22300464 1 22300465 [T/A] JHU_1.22303500 1 22303501 [T/C] NM_007352 CELA3B EXON Silent 1:22303542-CT 1 22303542 [T/C] NM_007352 CELA3B EXON Missense_R4W rs10493009 1 22303921 [G/C] NM_007352 CELA3B Silent 1:22304082-A-T 1 22304082 [T/A] NM_007352 CELA3B Silent rs11576963 1 22304142 [A/T] NM_007352 CELA3B Silent rs10917088 1 22304712 [A/G] NM_007352 CELA3B Silent exm1763880 1 22304879 [T/C] NM_007352 CELA3B EXON Missense_P21S exm29496 1 22304889 [A/G] NM_007352 CELA3B EXON Missense_R24H exm29516 1 22307538 [T/C] NM_007352 CELA3B EXON Missense_R79W exm29521 1 22307582 [T/G] NM_007352 CELA3B EXON Missense_K93N rs79366202 1 22308165 [T/G] NM_007352 CELA3B Silent rs7553024 1 22308178 [A/G] NM_007352 CELA3B Silent rs12049408 1 22308704 [A/G] NM_007352 CELA3B Silent JHU_1.22308785 1 22308786 [A/G] NM_007352 CELA3B Silent rs10799723 1 22310080 [A/G] NM_007352 CELA3B Silent 1:22310239-GA 1 22310239 [A/G] NM_007352 CELA3B EXON Missense_V139I rs150334655 1 22310474 [T/C] NM_007352 CELA3B Silent 1:22310696-CT 1 22310696 [T/C] NM_007352 CELA3B EXON Missense_P172S exm29555 1 22310711 [G/C] NM_007352 CELA3B EXON Missense_E177Q chr1_22310778 1 22310778 [A/G] NM_007352 CELA3B EXON Missense_K199R 1:22310807-AG 1 22310807 [A/G] NM_007352 CELA3B EXON Missense_I209V JHU_1.22312418 1 22312419 [T/G] NM_007352 CELA3B Silent JHU_1.22312454 1 22312455 [T/C] NM_007352 CELA3B Silent 1:22313063-GA 1 22313063 [A/G] NM_007352 CELA3B EXON Missense_G228S exm29579 1 22313075 [G/C] NM_007352 CELA3B EXON Missense_V232L JHU_1.22313645 1 22313646 [A/G] NM_007352 CELA3B Silent JHU_1.22315603 1 22315604 [C/G] NM_007352 CELA3B Silent rs12405048 1 22321550 [A/G] rs140479399 1 22325300 [C/G] JHU_1.22325563 1 22325564 [A/G] rs12076248 1 22326109 [T/C] JHU_1.22327244 1 22327245 [T/C] 1:22328178-GA 1 22328178 [A/G] NM_005747 CELA3A EXON Missense_R4Q rs4381156 1 22329687 [T/C] NM_005747 CELA3A Silent exm2250790 1 22332005 [T/C] NM_005747 CELA3A EXON Synonymous_P65P exm29662 1 22333884 [A/C] NM_005747 CELA3A EXON Missense_D173A 1:22333953-CT 1 22333953 [T/C] NM_005747 CELA3A EXON Missense_S196F 1:22336213-AC-A 1 22336213 [D/I] NM_005747 CELA3A EXON exm29682 1 22336244 [A/G] NM_005747 CELA3A EXON Nonsense_W230X exm2232570 1 22336295 [T/C] NM_005747 CELA3A EXON Missense_I247T rs9187 1 22336305 [T/C] NM_005747 CELA3A EXON Synonymous_P250P rs12022453 1 22343298 [T/C] JHU_1.22343297 1 22343298 [T/C] rs3117048 1 22345093 [A/G] rs2501298 1 22345860 [A/G] JHU_1.22345905 1 22345906 [A/G] JHU_1.22349614 1 22349615 [A/G] rs2501292 1 22350541 [T/C] NR_110692 LINC01635 EXON Silent rs141762235 1 22351798 [A/G] NR_110692,NR_023918 LINC01635,LINC00339 EXON Silent,Silent JHU_1.22351940 1 22351941 [T/G] NR_110692,NR_023918 LINC01635,LINC00339 Silent,Silent rs1883422 1 22352179 [A/C] NR_110692,NR_023918,NR_109762,NR_109759,NR_023919,NR_109760,NR_109761 LINC01635,LINC00339,LINC00339,LINC00339,LINC00339,LINC00339,LINC00339 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs114095512 1 22352716 [T/C] NR_023918,NR_109762,NR_109759,NR_023919,NR_109760,NR_109761 LINC00339,LINC00339,LINC00339,LINC00339,LINC00339,LINC00339 Silent,Silent,Silent,Silent,Silent,Silent rs2501290 1 22353986 [G/C] NR_023918,NR_109762,NR_109759,NR_023919,NR_109760,NR_109761 LINC00339,LINC00339,LINC00339,LINC00339,LINC00339,LINC00339 EXON Silent,Silent,Silent,Silent,Silent,Silent JHU_1.22354044 1 22354045 [T/C] NR_023918,NR_109762,NR_109759,NR_023919,NR_109760,NR_109761 LINC00339,LINC00339,LINC00339,LINC00339,LINC00339,LINC00339 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.22354276 1 22354277 [T/C] NR_023918,NR_109762,NR_109759,NR_023919,NR_109760,NR_109761 LINC00339,LINC00339,LINC00339,LINC00339,LINC00339,LINC00339 Silent,Silent,Silent,Silent,Silent,Silent rs2473295 1 22354866 [T/C] NR_023918,NR_109762,NR_109759,NR_023919,NR_109760,NR_109761 LINC00339,LINC00339,LINC00339,LINC00339,LINC00339,LINC00339 Silent,Silent,Silent,Silent,Silent,Silent rs4654780 1 22355044 [A/G] NR_023918,NR_109762,NR_109759,NR_023919,NR_109760,NR_109761 LINC00339,LINC00339,LINC00339,LINC00339,LINC00339,LINC00339 Silent,Silent,Silent,Silent,Silent,Silent rs10917123 1 22355978 [A/G] NR_023918,NR_109762,NR_109759,NR_023919,NR_109760,NR_109761 LINC00339,LINC00339,LINC00339,LINC00339,LINC00339,LINC00339 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.22358746 1 22358747 [T/C] JHU_1.22360875 1 22360876 [T/C] rs2473277 1 22361845 [A/G] JHU_1.22362037 1 22362038 [A/C] rs116825850 1 22366426 [T/C] JHU_1.22367209 1 22367210 [A/G] exm2268660 1 22368342 [T/C] rs2501276 1 22373624 [T/C] rs72665319 1 22374400 [A/G] rs12127684 1 22375896 [A/G] rs76706884 1 22376980 [T/C] rs11580192 1 22378555 [A/G] JHU_1.22381385 1 22381386 [A/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent rs16826233 1 22382599 [A/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent JHU_1.22384712 1 22384713 [T/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent rs16826312 1 22389839 [A/C] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent rs6689660 1 22392262 [T/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent 1:22393524-C-T 1 22393524 [T/C] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent rs2473317 1 22395251 [C/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent rs10917138 1 22400967 [A/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent 1:22401719-T-C 1 22401719 [T/C] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent rs144582498 1 22401911 [T/C] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent 1:22402194-T-C 1 22402194 [T/C] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent rs75488619 1 22404792 [A/C] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent 1:22404827-C-A 1 22404827 [A/C] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent seq-rs797044916 1 22405039 [A/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 EXON Missense_Y23C,Missense_Y23C,Missense_Y23C 1:22405316-AG 1 22405316 [A/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent 1:22405355-GT 1 22405355 [T/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent rs864309721 1 22412944 [A/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 EXON Missense_Y64C,Missense_Y64C,Missense_Y64C seq-rs797044870 1 22412949 [A/G] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 EXON Missense_R66G,Missense_R66G,Missense_R66G rs11800014 1 22414070 [T/C] NM_044472,NM_001791,NM_001039802 CDC42,CDC42,CDC42 Silent,Silent,Silent rs145645530 1 22422666 [G/C] 1:22424264-A-C 1 22424264 [A/C] rs16826593 1 22425631 [T/C] rs1534949 1 22426187 [A/C] JHU_1.22426518 1 22426519 [T/C] rs77250907 1 22428248 [T/C] JHU_1.22429532 1 22429533 [A/G] JHU_1.22429551 1 22429552 [A/G] rs79295953 1 22433871 [C/G] rs16826641 1 22439924 [A/C] JHU_1.22440924 1 22440925 [T/C] 1:22441982-C-T 1 22441982 [T/C] rs34745135 1 22442171 [C/G] exm29720 1 22446566 [C/G] NM_030761 WNT4 EXON Missense_V345L 1:22446583-CT 1 22446583 [T/C] NM_030761 WNT4 EXON Missense_R339Q 1:22446745-CT 1 22446745 [T/C] NM_030761 WNT4 EXON Missense_R285H exm29736 1 22446798 [T/A] NM_030761 WNT4 EXON Missense_D267E exm29738 1 22446856 [T/C] NM_030761 WNT4 EXON Missense_R248H exm29741 1 22446860 [A/G] NM_030761 WNT4 EXON Missense_R247C exm29743 1 22446902 [T/C] NM_030761 WNT4 EXON Missense_A233T rs3765350 1 22447316 [A/G] NM_030761 WNT4 Silent exm29754 1 22447940 [T/C] NM_030761 WNT4 EXON Missense_Q148R 1:22449360-C-T 1 22449360 [T/C] NM_030761 WNT4 Silent JHU_1.22450401 1 22450402 [T/C] NM_030761 WNT4 Silent rs2235529 1 22450487 [T/C] NM_030761 WNT4 Silent rs7526484 1 22451845 [T/C] NM_030761 WNT4 Silent 1:22453762-AG 1 22453762 [A/G] NM_030761 WNT4 Silent 1:22455083-G-A 1 22455083 [A/G] NM_030761 WNT4 Silent rs7544210 1 22455142 [A/G] NM_030761 WNT4 Silent rs77448785 1 22455717 [T/C] NM_030761 WNT4 Silent rs121908652 1 22456175 [A/G] NM_030761 WNT4 EXON Missense_R83W exm29771 1 22456184 [A/G] NM_030761 WNT4 EXON Missense_Y80H 1:22456216-CT 1 22456216 [T/C] NM_030761 WNT4 EXON Missense_R69H JHU_1.22461260 1 22461261 [T/C] NM_030761 WNT4 Silent rs3820282 1 22468215 [T/C] NM_030761 WNT4 Silent rs12136428 1 22472983 [A/T] rs7515106 1 22473410 [T/C] JHU_1.22474194 1 22474195 [T/C] JHU_1.22474885 1 22474886 [A/G] rs113126541 1 22476490 [G/C] 1:22476514-C-T 1 22476514 [T/C] rs147627901 1 22477466 [T/C] rs7542242 1 22477493 [T/C] rs151161614 1 22478350 [A/G] rs7548239 1 22479193 [A/C] 1:22480219-T-C 1 22480219 [T/C] rs4623666 1 22480312 [A/G] 1:22480694-C-T 1 22480694 [T/C] 1:22480729-C-T 1 22480729 [T/C] JHU_1.22482529 1 22482530 [A/G] rs12410251 1 22482629 [T/G] 1:22483412-C-A 1 22483412 [A/C] 1:22484545-G-A 1 22484545 [A/G] rs75730128 1 22485804 [G/C] exm-rs16826658 1 22485871 [T/G] rs16826658 1 22485871 [T/G] rs12729516 1 22486397 [T/C] rs2744721 1 22487036 [T/C] rs2807362 1 22488940 [T/C] JHU_1.22490573 1 22490574 [T/C] 1:22490713-C-T 1 22490713 [T/C] rs7521902 1 22490724 [A/C] JHU_1.22491171 1 22491172 [T/C] 1:22492887-G-C 1 22492887 [G/C] JHU_1.22493017 1 22493018 [T/C] rs60999980 1 22493090 [A/G] rs12747516 1 22494791 [A/G] rs17360017 1 22495215 [A/G] JHU_1.22495436 1 22495437 [A/G] JHU_1.22495590 1 22495591 [T/C] rs2744698 1 22495601 [T/C] 1:22495663-T-C 1 22495663 [T/C] rs2179378 1 22498765 [A/C] rs17360053 1 22499530 [T/C] rs12568557 1 22500228 [T/C] JHU_1.22501420 1 22501421 [A/G] rs10917165 1 22501628 [T/C] rs742356 1 22501846 [A/G] rs11799918 1 22502000 [A/G] JHU_1.22501999 1 22502000 [A/G] 1:22503528-G-A 1 22503528 [A/G] 1:22504272-C-A 1 22504272 [A/C] rs926434 1 22506159 [A/G] 1:22506818-C-T 1 22506818 [T/C] rs2744708 1 22506851 [A/G] JHU_1.22508342 1 22508343 [A/G] rs77773110 1 22512818 [T/C] JHU_1.22514069 1 22514070 [T/G] JHU_1.22514136 1 22514137 [A/C] rs10753531 1 22514236 [T/C] 1:22515169-A-T 1 22515169 [T/A] 1:22517559-T-G 1 22517559 [T/G] JHU_1.22518186 1 22518187 [T/G] JHU_1.22519066 1 22519067 [T/C] JHU_1.22522610 1 22522611 [T/C] rs12734979 1 22522927 [T/C] JHU_1.22523927 1 22523928 [A/G] 1:22523928-A-G 1 22523928 [A/G] 1:22524059-T-C 1 22524059 [T/C] JHU_1.22525461 1 22525462 [A/G] rs732376 1 22530214 [T/C] 1:22530581-A-G 1 22530581 [A/G] rs75526932 1 22531051 [T/C] 1:22531419-C-T 1 22531419 [T/C] JHU_1.22531541 1 22531542 [A/G] rs17356059 1 22531553 [T/C] 1:22531931-G-A 1 22531931 [A/G] 1:22532007-T-C 1 22532007 [T/C] rs76749878 1 22532105 [T/C] rs2807348 1 22533106 [A/G] rs118130782 1 22535237 [A/G] rs17356087 1 22536534 [T/C] exm2250809 1 22537071 [T/C] rs76142969 1 22537373 [A/G] rs67895977 1 22537513 [A/G] rs2473250 1 22537649 [A/G] JHU_1.22540917 1 22540918 [T/C] JHU_1.22541747 1 22541748 [A/G] rs2505722 1 22542445 [T/G] JHU_1.22543367 1 22543368 [T/C] 1:22544275-A-G 1 22544275 [A/G] 1:22547015-T-C 1 22547015 [T/C] rs7544280 1 22548252 [T/C] JHU_1.22548829 1 22548830 [A/G] JHU_1.22548877 1 22548878 [A/C] rs2744734 1 22549729 [T/C] JHU_1.22551667 1 22551668 [A/G] rs2505711 1 22551925 [A/G] 1:22553178-A-C 1 22553178 [A/C] rs12749135 1 22553478 [T/G] JHU_1.22553554 1 22553555 [T/C] rs1033455 1 22554625 [A/G] rs2807321 1 22554891 [A/C] 1:22555282-C-T 1 22555282 [T/C] JHU_1.22555504 1 22555505 [T/C] rs2491210 1 22555993 [T/G] 1:22556224-T-C 1 22556224 [T/C] JHU_1.22559438 1 22559439 [T/C] 1:22559983-G-C 1 22559983 [G/C] JHU_1.22562602 1 22562603 [A/G] rs926436 1 22563429 [A/G] JHU_1.22567892 1 22567893 [T/A] rs932371 1 22569226 [T/C] 1:22569656-G-T 1 22569656 [T/G] rs61254978 1 22570725 [A/G] rs2744747 1 22571462 [T/C] rs7553227 1 22572123 [A/G] JHU_1.22572706 1 22572707 [A/G] rs10489160 1 22573259 [A/G] 1:22573660-C-T 1 22573660 [T/C] rs909814 1 22573942 [T/C] rs2744750 1 22574426 [A/G] rs72868612 1 22575868 [T/C] JHU_1.22576019 1 22576020 [A/G] 1:22576461-G-A 1 22576461 [A/G] 1:22577374-G-C 1 22577374 [C/G] rs2807338 1 22577425 [T/C] rs10917188 1 22579006 [T/C] rs74355262 1 22579159 [A/G] rs143136073 1 22580401 [A/G] JHU_1.22580524 1 22580525 [A/G] 1:22580614-C-T 1 22580614 [T/C] rs2807342 1 22581961 [A/G] rs3845519 1 22585236 [A/G] rs60293366 1 22586202 [A/G] rs72647484 1 22587728 [T/C] rs4654790 1 22588355 [A/G] rs34485505 1 22588833 [T/C] JHU_1.22589835 1 22589836 [T/C] JHU_1.22590124 1 22590125 [T/C] JHU_1.22590330 1 22590331 [G/C] JHU_1.22590486 1 22590487 [T/C] JHU_1.22590932 1 22590933 [T/C] JHU_1.22591298 1 22591299 [A/G] rs12089121 1 22591724 [T/C] JHU_1.22591874 1 22591875 [T/C] rs34824550 1 22592191 [A/C] JHU_1.22595081 1 22595082 [T/G] rs2473241 1 22596600 [T/C] rs2143100 1 22599878 [T/C] rs12406679 1 22602254 [A/G] JHU_1.22603489 1 22603490 [T/G] rs760915 1 22603552 [A/G] rs1076678 1 22603661 [T/C] rs116077782 1 22604354 [A/G] rs114956039 1 22605693 [A/G] rs140627583 1 22607368 [T/A] rs12737805 1 22612690 [A/G] rs141009466 1 22614502 [T/C] JHU_1.22614688 1 22614689 [A/G] rs1007243 1 22614839 [T/C] rs760916 1 22616286 [T/G] rs115230645 1 22618736 [T/C] rs10917196 1 22622513 [T/C] rs12121212 1 22622756 [T/C] rs12140773 1 22622882 [T/C] rs7536060 1 22623248 [A/G] rs74061810 1 22623632 [T/C] rs10799746 1 22625246 [A/C] rs6426746 1 22629057 [A/G] rs4589079 1 22636659 [T/C] JHU_1.22637350 1 22637351 [A/G] rs4655040 1 22638050 [A/G] rs113634428 1 22638195 [A/G] rs79986280 1 22641959 [A/G] JHU_1.22645203 1 22645204 [T/C] rs113814907 1 22645511 [T/C] rs6690148 1 22648411 [T/C] JHU_1.22651524 1 22651525 [T/G] JHU_1.22651578 1 22651579 [G/C] JHU_1.22651602 1 22651603 [T/G] JHU_1.22651681 1 22651682 [A/C] JHU_1.22651692 1 22651693 [A/G] JHU_1.22651921 1 22651922 [A/G] JHU_1.22652222 1 22652223 [G/C] rs76880220 1 22652956 [G/C] rs76225863 1 22653595 [A/G] rs12137132 1 22653884 [T/C] JHU_1.22655512 1 22655513 [A/G] rs111745895 1 22656725 [T/C] rs11580249 1 22656863 [T/G] rs16826941 1 22658597 [T/C] rs116126380 1 22659203 [A/T] rs118067601 1 22659205 [T/C] rs6660965 1 22659243 [T/C] rs4655044 1 22659375 [T/C] rs12407338 1 22664003 [A/G] JHU_1.22665719 1 22665720 [T/C] rs141891882 1 22665733 [A/C] rs11584197 1 22666980 [A/G] rs34663201 1 22668830 [A/G] rs34634004 1 22670583 [A/G] rs4655051 1 22674007 [A/G] rs10917219 1 22674370 [T/C] JHU_1.22675176 1 22675177 [A/G] JHU_1.22675709 1 22675710 [A/G] JHU_1.22676172 1 22676173 [A/C] JHU_1.22677889 1 22677890 [T/A] rs61769163 1 22678805 [T/C] rs12088685 1 22679088 [A/G] JHU_1.22679087 1 22679088 [A/G] rs1316342 1 22680517 [A/C] rs12742784 1 22682366 [T/C] rs12089677 1 22683030 [A/G] rs74061836 1 22684694 [A/C] JHU_1.22684783 1 22684784 [A/G] rs35158109 1 22685034 [T/G] rs10753536 1 22685251 [A/G] JHU_1.22687881 1 22687882 [T/G] rs4655052 1 22688484 [A/G] rs4655053 1 22690364 [A/G] rs78219509 1 22690539 [T/C] rs6682619 1 22690923 [T/G] rs7524102 1 22698447 [A/G] JHU_1.22699969 1 22699970 [A/G] rs34920465 1 22700351 [A/G] rs12568930 1 22702231 [T/C] rs6696981 1 22702858 [T/G] exm-rs6696981 1 22702858 [T/G] rs56288050 1 22703645 [A/G] JHU_1.22706397 1 22706398 [A/G] rs6684375 1 22706434 [T/C] rs6657950 1 22711208 [G/C] exm-rs6426749 1 22711473 [G/C] rs6426749 1 22711473 [G/C] rs17471780 1 22713083 [T/C] rs74788890 1 22714205 [T/G] rs199546141 1 22716747 [T/G] rs34339129 1 22718244 [T/C] rs6704135 1 22718261 [T/C] rs6426752 1 22718991 [A/G] JHU_1.22719810 1 22719811 [A/G] rs6667212 1 22722694 [A/G] JHU_1.22723948 1 22723949 [A/G] rs2185341 1 22725825 [T/C] JHU_1.22726370 1 22726371 [A/G] JHU_1.22729325 1 22729326 [A/G] rs7543680 1 22731269 [A/G] rs4655059 1 22735906 [A/C] JHU_1.22737099 1 22737100 [T/A] JHU_1.22737882 1 22737883 [A/G] JHU_1.22737945 1 22737946 [T/G] rs111724808 1 22737946 [T/G] JHU_1.22737963 1 22737964 [T/C] JHU_1.22738032 1 22738033 [T/G] rs115400024 1 22738249 [G/C] JHU_1.22739009 1 22739010 [A/G] rs139297604 1 22740216 [T/C] rs12145722 1 22742985 [T/C] rs4515757 1 22744686 [T/C] rs145013226 1 22745496 [C/G] rs10799754 1 22746686 [T/C] 1:22746686-T-C 1 22746686 [T/C] 1:22748605-G-A 1 22748605 [A/G] JHU_1.22756765 1 22756766 [A/G] rs147063801 1 22757305 [T/C] rs7530165 1 22760325 [A/G] rs11591062 1 22760900 [A/G] rs4354513 1 22765224 [C/G] rs72871682 1 22771700 [A/C] rs12026418 1 22773853 [T/C] rs1890775 1 22774266 [T/C] rs79676274 1 22780152 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent exm-rs10917234 1 22782602 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent JHU_1.22784908 1 22784909 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs79943777 1 22785958 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs10493014 1 22787711 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent JHU_1.22793531 1 22793532 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs74843811 1 22793532 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent 1:22794851-A-G 1 22794851 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs4369203 1 22795459 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs188247008 1 22799930 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs76149452 1 22801233 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent JHU_1.22813205 1 22813206 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent variant.1593 1 22816505 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Nonsense_Q22X,Nonsense_Q22X,Nonsense_Q22X exm29787 1 22816686 [T/A] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_K82I,Missense_K82I,Missense_K82I rs201681716 1 22816686 [T/A] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_K82I,Missense_K82I,Missense_K82I chr1_22817028 1 22817028 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_S196N,Missense_S196N,Missense_S196N 1:22817079-GT 1 22817079 [T/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_C213F,Missense_C213F,Missense_C213F exm2250834 1 22817098 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Synonymous_V219V,Synonymous_V219V,Synonymous_V219V exm29802 1 22817114 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_A225T,Missense_A225T,Missense_A225T exm29806 1 22817961 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_M256V,Missense_M256V,Missense_M256V exm29808 1 22817996 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_M267I,Missense_M267I,Missense_M267I rs149125555 1 22818671 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs137864527 1 22824374 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs76880008 1 22825486 [T/A] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent exm29809 1 22827991 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Silent,Missense_V280M,Missense_V280M exm29818 1 22828154 [T/A] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Silent,Missense_D334V,Missense_D334V 1:22828908-GA 1 22828908 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Silent,Missense_E381K,Missense_E381K exm29833 1 22834601 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_M378V,Missense_M490V,Missense_M490V 1:22834614-CT 1 22834614 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_A382V,Missense_A494V,Missense_A494V indel.1595 1 22834628 [D/I] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON 1:22835119-AG 1 22835119 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_I420V,Missense_I532V,Missense_I532V exm29842 1 22835642 [G/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_Q471H,Missense_Q583H,Missense_Q583H exm29843 1 22835677 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_Y483C,Missense_Y595C,Missense_Y595C 1:22837687-TC 1 22837687 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_S505P,Missense_S617P,Missense_S617P 1:22837793-AG 1 22837793 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_K540R,Missense_K652R,Missense_K652R exm29860 1 22838442 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_R647Q,Missense_R759Q,Missense_R759Q exm29861 1 22838453 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_S651G,Missense_S763G,Missense_S763G exm1766005 1 22838519 [C/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_Q673E,Missense_Q785E,Missense_Q785E exm1766006 1 22838538 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_A679V,Missense_A791V,Missense_A791V chr1_22838553 1 22838553 [A/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_D684A,Missense_D796A,Missense_D796A variant.1598 1 22838632 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent exm29867 1 22839498 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_N736S,Missense_N848S,Missense_N848S JHU_1.22841976 1 22841977 [T/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent JHU_1.22842410 1 22842411 [A/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs148936173 1 22843154 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs209722 1 22843428 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent 1:22843873-GA 1 22843873 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_G805R,Missense_G917R,Missense_G917R rs74877287 1 22846434 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent 1:22846616-CT 1 22846616 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_R854W,Missense_R966W,Missense_R966W exm29881 1 22846655 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_P867S,Missense_P979S,Missense_P979S exm2232678 1 22846659 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_C868Y,Missense_C980Y,Missense_C980Y 1:22846686-CT 1 22846686 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_A877V,Missense_A989V,Missense_A989V rs141210548 1 22847546 [C/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs28645571 1 22847660 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent JHU_1.22848292 1 22848293 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent rs76936625 1 22848465 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 Silent,Silent,Silent 1:22850753-GA 1 22850753 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_R1002H,Missense_R1114H,Missense_R1114H 1:22850917-GA 1 22850917 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_A1057T,Missense_A1169T,Missense_A1169T 1:22852864-CT 1 22852864 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_T1120M,Missense_T1232M,Missense_T1232M exm29914 1 22852880 [C/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Missense_E1125D,Missense_E1237D,Missense_E1237D rs12137696 1 22855441 [T/C] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Silent,Silent,Silent JHU_1.22855740 1 22855741 [A/G] NM_001330398,NM_001083621,NM_014870 ZBTB40,ZBTB40,ZBTB40 EXON Silent,Silent,Silent rs12756490 1 22863680 [T/C] rs209717 1 22863816 [A/G] JHU_1.22866289 1 22866290 [A/C] rs16827302 1 22868245 [T/G] rs76346957 1 22869102 [T/C] JHU_1.22869464 1 22869465 [T/C] JHU_1.22869844 1 22869845 [A/G] JHU_1.22869903 1 22869904 [A/C] rs766910 1 22872687 [A/C] JHU_1.22873224 1 22873225 [T/C] JHU_1.22873239 1 22873240 [T/C] JHU_1.22873304 1 22873305 [T/G] rs116546216 1 22875092 [T/A] rs181468289 1 22876407 [G/C] rs116391371 1 22876876 [T/C] rs11584687 1 22877240 [A/G] rs209709 1 22877813 [A/G] JHU_1.22877914 1 22877915 [A/G] rs114602246 1 22880293 [T/C] rs76391779 1 22881029 [A/G] rs115011594 1 22883163 [A/G] JHU_1.22886145 1 22886146 [A/C] JHU_1.22886251 1 22886252 [A/G] rs75183449 1 22886750 [T/C] rs75350723 1 22889228 [T/C] rs209735 1 22891965 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent rs112634422 1 22892316 [T/G] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent rs3767565 1 22893543 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent rs12119102 1 22894502 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent rs61767285 1 22895487 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent 1:22895797-CT 1 22895797 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_T37M,Missense_T37M exm29921 1 22895820 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_G45S,Missense_G45S JHU_1.22896974 1 22896975 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent rs209741 1 22899011 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent rs55717613 1 22899744 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent exm2232712 1 22902710 [T/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_W54G,Missense_W54G 1:22902827-GA 1 22902827 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_G93S,Missense_G93S exm2232713 1 22903034 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R162W,Missense_R162W exm29948 1 22903176 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R209H,Missense_R209H exm29956 1 22903356 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R269Q,Missense_R269Q JHU_1.22904617 1 22904618 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent rs649754 1 22906247 [A/C] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent rs74060296 1 22906534 [G/C] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent rs665395 1 22911652 [G/C] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent JHU_1.22912233 1 22912234 [T/G] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent rs652125 1 22912312 [C/G] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent chr1_22913032 1 22913032 [A/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_P295T,Missense_P295T exm29963 1 22913051 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_A301V,Missense_A301V exm29964 1 22913111 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_P321L,Missense_P321L rs3767556 1 22914107 [T/G] NM_020526,NM_001006943 EPHA8,EPHA8 Silent,Silent 1:22915475-CT 1 22915475 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_A364V,Missense_A364V 1:22915477-GA 1 22915477 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_V365M,Missense_V365M Variant37777 1 22915494 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Synonymous_P370P,Synonymous_P370P exm29974 1 22915508 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_R375H,Missense_R375H exm29980 1 22915678 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Missense_N432D,Missense_N432D 1:22915717-GA 1 22915717 [A/G] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_V445I exm29984 1 22915721 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_P446L exm29987 1 22915753 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_S457P exm29990 1 22915816 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_L478F exm29993 1 22915858 [T/C] NM_020526,NM_001006943 EPHA8,EPHA8 EXON Silent,Missense_L492F rs10917263 1 22916671 [A/G] NM_020526 EPHA8 Silent rs114143207 1 22918692 [T/C] NM_020526 EPHA8 Silent JHU_1.22918845 1 22918846 [A/G] NM_020526 EPHA8 Silent 1:22919878-CA 1 22919878 [A/C] NM_020526 EPHA8 EXON Missense_L459M 1:22920095-CT 1 22920095 [T/C] NM_020526 EPHA8 EXON Missense_R507C Variant37778 1 22920100 [T/C] NM_020526 EPHA8 EXON Synonymous_Y508Y Variant37779 1 22920113 [T/C] NM_020526 EPHA8 EXON Nonsense_R513X exm30009 1 22920141 [A/G] NM_020526 EPHA8 EXON Missense_R522H exm30010 1 22920150 [A/G] NM_020526 EPHA8 EXON Missense_Q525R 1:22920151-GT 1 22920151 [T/G] NM_020526 EPHA8 EXON Missense_Q525H rs209694 1 22921503 [T/C] NM_020526 EPHA8 Silent exm30020 1 22921794 [T/C] NM_020526 EPHA8 EXON Missense_L559F 1:22922648-CT 1 22922648 [T/C] NM_020526 EPHA8 EXON Missense_H583Y rs140500411 1 22922837 [A/G] NM_020526 EPHA8 Silent exm30030 1 22923859 [A/C] NM_020526 EPHA8 EXON Missense_P607H exm30033 1 22923873 [G/C] NM_020526 EPHA8 EXON Missense_E612Q 1:22923903-GA 1 22923903 [A/G] NM_020526 EPHA8 EXON Missense_A622T 1:22923922-GA 1 22923922 [A/G] NM_020526 EPHA8 EXON Missense_R628Q 1:22924292-CT 1 22924292 [T/C] NM_020526 EPHA8 EXON Missense_A685V exm30052 1 22924646 [T/C] NM_020526 EPHA8 EXON Missense_R707C rs999800 1 22926021 [A/G] NM_020526 EPHA8 Silent rs55821293 1 22927126 [T/C] NM_020526 EPHA8 Silent exm30074 1 22927154 [A/G] NM_020526 EPHA8 EXON Missense_G797S exm30080 1 22927241 [A/G] NM_020526 EPHA8 EXON Missense_V826M exm30082 1 22927274 [T/C] NM_020526 EPHA8 EXON Missense_R837W exm30083 1 22927275 [A/G] NM_020526 EPHA8 EXON Missense_R837Q 1:22927434-TC 1 22927434 [T/C] NM_020526 EPHA8 EXON Missense_M861T 1:22927488-GA 1 22927488 [A/G] NM_020526 EPHA8 EXON Missense_R879Q exm30098 1 22927503 [A/G] NM_020526 EPHA8 EXON Missense_R884H 1:22927529-GA 1 22927529 [A/G] NM_020526 EPHA8 EXON Missense_D893N exm30099 1 22927533 [T/C] NM_020526 EPHA8 EXON Missense_A894V exm30100 1 22927541 [T/C] NM_020526 EPHA8 EXON Missense_R897C JHU_1.22927657 1 22927658 [A/T] NM_020526 EPHA8 Silent exm30107 1 22927834 [A/G] NM_020526 EPHA8 EXON Missense_R924Q exm1766558 1 22927836 [A/G] NM_020526 EPHA8 EXON Missense_G925R 1:22927890-CT 1 22927890 [T/C] NM_020526 EPHA8 EXON Missense_R943C exm30114 1 22927906 [A/G] NM_020526 EPHA8 EXON Missense_R948Q exm30115 1 22927954 [A/G] NM_020526 EPHA8 EXON Missense_R964H rs150964144 1 22928138 [T/C] NM_020526 EPHA8 EXON Synonymous_G974G 1:22928148-AG 1 22928148 [A/G] NM_020526 EPHA8 EXON Missense_M978V 1:22928190-CT 1 22928190 [T/C] NM_020526 EPHA8 EXON Missense_R992W exm30122 1 22928191 [A/G] NM_020526 EPHA8 EXON Missense_R992Q rs41266037 1 22928504 [A/G] NM_020526 EPHA8 EXON Silent JHU_1.22930301 1 22930302 [A/C] JHU_1.22931074 1 22931075 [T/C] rs149758086 1 22931683 [A/G] rs12128121 1 22932162 [A/G] rs74768523 1 22933355 [T/C] JHU_1.22934541 1 22934542 [T/C] rs209705 1 22934644 [A/G] rs209704 1 22936072 [A/G] rs116834054 1 22936191 [G/C] JHU_1.22936468 1 22936469 [T/C] rs12128546 1 22937094 [T/G] JHU_1.22937878 1 22937879 [T/G] JHU_1.22938801 1 22938802 [A/G] rs77482787 1 22942550 [T/G] JHU_1.22944448 1 22944449 [T/G] rs79007184 1 22944697 [A/G] JHU_1.22944696 1 22944697 [A/G] rs117978729 1 22951382 [A/G] JHU_1.22951496 1 22951497 [A/G] rs158762 1 22952823 [A/G] JHU_1.22955720 1 22955721 [T/G] rs587585 1 22958318 [T/C] rs665691 1 22960354 [G/C] exm30132 1 22964176 [A/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_E23K,Missense_E23K,Missense_E23K exm30134 1 22964189 [A/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_R27Q,Missense_R27Q,Missense_R27Q Variant48168 1 22964200 [A/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_G31R,Missense_G31R,Missense_G31R 1:22964240-GA 1 22964240 [A/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_R44Q,Missense_R44Q,Missense_R44Q rs12740591 1 22965003 [T/C] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA Silent,Silent,Silent 1:22965340-CT 1 22965340 [T/C] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_R60W,Missense_R60W,Missense_R60W rs172378 1 22965438 [A/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Synonymous_G92G,Synonymous_G92G,Synonymous_G92G 1:22965439-GT 1 22965439 [T/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_A93S,Missense_A93S,Missense_A93S exm30141 1 22965457 [A/C] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_I99L,Missense_I99L,Missense_I99L exm30144 1 22965538 [A/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_M126V,Missense_M126V,Missense_M126V exm30152 1 22965659 [T/C] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_L166P,Missense_L166P,Missense_L166P 1:22965784-C-T 1 22965784 [T/C] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Nonsense_Q208X,Nonsense_Q208X,Nonsense_Q208X chr1_22965797 1 22965797 [A/G] NM_015991,NM_001347465,NM_001347466 C1QA,C1QA,C1QA EXON Missense_G212D,Missense_G212D,Missense_G212D 1:22970646-GA 1 22970646 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_A44T,Missense_A44T,Missense_A44T,Silent 1:22970667-GA 1 22970667 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_D51N,Missense_D51N,Missense_D51N,Silent rs655903 1 22971019 [T/C] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC Silent,Silent,Silent,Silent rs672693 1 22971446 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC Silent,Silent,Silent,Silent rs294185 1 22971892 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC Silent,Silent,Silent,Silent JHU_1.22972898 1 22972899 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC Silent,Silent,Silent,Silent Variant48171 1 22973743 [T/C] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Nonsense_R69X,Nonsense_R69X,Nonsense_R69X,Silent Variant15880 1 22973749 [D/I] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON rs141230621 1 22973767 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_E77K,Missense_E77K,Missense_E77K,Silent exm30177 1 22973770 [T/C] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_P78S,Missense_P78S,Missense_P78S,Silent exm30193 1 22973962 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_A142T,Missense_A142T,Missense_A142T,Missense_A53T Variant48172 1 22974028 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_G164S,Missense_G164S,Missense_G164S,Missense_G75S 1:22974076-GA 1 22974076 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_V180M,Missense_V180M,Missense_V180M,Missense_V91M exm30203 1 22974097 [A/G] NM_172369,NM_001114101,NM_001347619,NM_001347620 C1QC,C1QC,C1QC,C1QC EXON Missense_V187I,Missense_V187I,Missense_V187I,Missense_V98I rs294179 1 22974928 [T/C] rs80020034 1 22976159 [T/C] rs71638859 1 22977568 [G/C] rs11583021 1 22977839 [G/C] rs12734877 1 22977883 [A/C] rs17433222 1 22978646 [A/G] rs12756603 1 22981876 [A/G] NM_000491 C1QB Silent rs291983 1 22982283 [T/C] NM_000491 C1QB Silent rs294187 1 22984360 [T/C] NM_000491 C1QB Silent 1:22985975-GA 1 22985975 [A/G] NM_000491 C1QB EXON Missense_S9N chr1_22986086 1 22986086 [T/C] NM_000491 C1QB EXON Missense_T46I rs623183 1 22986631 [A/G] NM_000491 C1QB Silent exm30222 1 22987340 [A/G] NM_000491 C1QB EXON Missense_G75R rs35477594 1 22987340 [A/G] NM_000491 C1QB EXON Missense_G75R Variant48173 1 22987385 [A/G] NM_000491 C1QB EXON Missense_G90S exm30233 1 22987523 [T/C] NM_000491 C1QB EXON Missense_R136W Variant48174 1 22987646 [T/C] NM_000491 C1QB EXON Nonsense_R177X 1:22987661-GA 1 22987661 [A/G] NM_000491 C1QB EXON Missense_V182M rs147260497 1 22987724 [T/A] NM_000491 C1QB EXON Missense_N203Y exm30249 1 22987724 [T/A] NM_000491 C1QB EXON Missense_N203Y Variant48175 1 22987847 [A/G] NM_000491 C1QB EXON Missense_G244R rs292010 1 22989745 [T/C] rs292007 1 22991512 [T/C] JHU_1.22991623 1 22991624 [A/G] rs66939455 1 22992253 [A/G] rs67806890 1 22992511 [T/C] rs144212536 1 22993705 [A/G] JHU_1.22994084 1 22994085 [A/G] JHU_1.22996392 1 22996393 [C/G] JHU_1.22997423 1 22997424 [T/A] JHU_1.22998237 1 22998238 [A/G] JHU_1.22999748 1 22999749 [A/G] JHU_1.23000190 1 23000191 [A/G] JHU_1.23000491 1 23000492 [T/C] rs7549888 1 23004019 [T/G] rs75837320 1 23004531 [A/G] JHU_1.23005568 1 23005569 [T/C] JHU_1.23005616 1 23005617 [T/G] rs56373251 1 23006599 [A/G] rs17486657 1 23007175 [T/C] JHU_1.23011085 1 23011086 [T/G] JHU_1.23011230 1 23011231 [A/G] JHU_1.23011540 1 23011541 [A/G] JHU_1.23012880 1 23012881 [T/C] rs17433836 1 23015238 [T/C] rs113545335 1 23016369 [T/C] JHU_1.23016924 1 23016925 [A/G] rs294207 1 23020563 [T/C] rs185857432 1 23023080 [T/A] rs79944144 1 23024662 [T/C] rs74060502 1 23025087 [A/G] rs294214 1 23026293 [T/C] JHU_1.23028590 1 23028591 [A/G] rs35520349 1 23029608 [A/G] JHU_1.23031101 1 23031102 [A/C] JHU_1.23031391 1 23031392 [C/G] rs4655092 1 23034216 [T/C] JHU_1.23034661 1 23034662 [A/C] rs138811842 1 23034798 [A/G] rs114694982 1 23034908 [A/C] rs76961920 1 23038819 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2986657 1 23040667 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs147593408 1 23041830 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs12074571 1 23042318 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2869513 1 23045943 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs144505178 1 23049771 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs72879163 1 23050420 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs34582119 1 23053486 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10799760 1 23055046 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4655093 1 23055360 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs114903752 1 23057598 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10917284 1 23062908 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23063046 1 23063047 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs963113 1 23066492 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs61488959 1 23066767 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23068181 1 23068182 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10917287 1 23068395 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6669666 1 23068465 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6426763 1 23068761 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23070666 1 23070667 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs118028035 1 23071622 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs876685 1 23072420 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs77990368 1 23072957 [C/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6698922 1 23073167 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6686970 1 23073622 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23073666 1 23073667 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23073685 1 23073686 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs78094595 1 23076073 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs76623584 1 23076314 [C/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs1561622 1 23077981 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs55798378 1 23079572 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6656394 1 23080373 [T/A] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs187911812 1 23081508 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4655100 1 23082002 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23085879 1 23085880 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23086666 1 23086667 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs35203503 1 23087573 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23090032 1 23090033 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10753544 1 23091273 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23091595 1 23091596 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2817882 1 23094059 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs137941457 1 23097239 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent 1:23101699-GA 1 23101699 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23102005 1 23102006 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6692683 1 23102856 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2817912 1 23103353 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2817909 1 23106213 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs67288087 1 23107201 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm30269 1 23107943 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_A31T,Missense_A31T,Missense_A31T,Missense_A31T rs148345404 1 23108238 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs55993745 1 23110255 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent chr1_23110990 1 23110990 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_I78V,Missense_I78V,Missense_I78V,Missense_I78V exm30274 1 23110997 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R80H,Missense_R80H,Missense_R80H,Missense_R80H rs181872637 1 23110997 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R80H,Missense_R80H,Missense_R80H,Missense_R80H 1:23111125-GA 1 23111125 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_A123T,Missense_A123T,Missense_A123T,Missense_A123T rs185887197 1 23111222 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R155H,Missense_R155H,Missense_R155H,Missense_R155H exm30286 1 23111354 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R199H,Missense_R199H,Missense_R199H,Missense_R199H rs200990235 1 23111444 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_N229S,Missense_N229S,Missense_N229S,Missense_N229S 1:23111504-TG 1 23111504 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_V249G,Missense_V249G,Missense_V249G,Missense_V249G 1:23111557-AG 1 23111557 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_T267A,Missense_T267A,Missense_T267A,Missense_T267A 1:23111560-GA 1 23111560 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_V268I,Missense_V268I,Missense_V268I,Missense_V268I rs75886857 1 23114325 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs138073139 1 23114411 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs12724658 1 23115749 [G/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs11801544 1 23115939 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2817896 1 23116049 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10799764 1 23117460 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs893961 1 23118173 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs149461274 1 23119466 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs143863501 1 23119608 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23119839 1 23119840 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23121988 1 23121989 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4655110 1 23122280 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4655111 1 23122345 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2582016 1 23122360 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23127290 1 23127291 [T/A] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs77114536 1 23128685 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23129066 1 23129067 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23129161 1 23129162 [G/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23129234 1 23129235 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs77657074 1 23131384 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2582032 1 23131979 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs76665242 1 23132055 [G/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs893969 1 23132838 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs192801981 1 23133657 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10465543 1 23134218 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23135411 1 23135412 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs116406916 1 23137129 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23138532 1 23138533 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2869511 1 23140700 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6703663 1 23143828 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs117169807 1 23145463 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4390147 1 23145603 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23148686 1 23148687 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23148851 1 23148852 [G/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4654820 1 23150844 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23151068 1 23151069 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs10917312 1 23152969 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23154478 1 23154479 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs146606959 1 23155961 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6687094 1 23156289 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs34957055 1 23157847 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23157846 1 23157847 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs4600017 1 23158223 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs58506061 1 23168325 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs11800828 1 23171706 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs35086321 1 23174066 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs117308932 1 23174469 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23174978 1 23174979 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs7514049 1 23175046 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6667289 1 23175151 [C/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs112781593 1 23179825 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs16827672 1 23182684 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23184352 1 23184353 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23184600 1 23184601 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23184707 1 23184708 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23184753 1 23184754 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23184932 1 23184933 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23185448 1 23185449 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23185798 1 23185799 [G/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs6679387 1 23189503 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm30301 1 23189553 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_A279S,Missense_A279S,Missense_A279S,Missense_A279S exm30302 1 23189565 [G/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_D283H,Missense_D283H,Missense_D283H,Missense_D283H rs142113032 1 23189565 [G/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_D283H,Missense_D283H,Missense_D283H,Missense_D283H 1:23191471-GA 1 23191471 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_V357I,Missense_V357I,Missense_V357I,Missense_V357I exm30317 1 23191502 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_S367L,Missense_S367L,Missense_S367L,Missense_S367L exm30319 1 23191508 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R369Q,Missense_R369Q,Missense_R369Q,Missense_R369Q 1:23191553-GA 1 23191553 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R384H,Missense_R384H,Missense_R384H,Missense_R384H JHU_1.23191745 1 23191746 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs16827686 1 23193977 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm2268870 1 23198619 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs118050687 1 23199165 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23202747 1 23202748 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs7528104 1 23205318 [C/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23205597 1 23205598 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs11807221 1 23207135 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm30333 1 23208887 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R447C,Missense_R447C,Missense_R447C,Missense_R447C rs170129 1 23209562 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs67142165 1 23210559 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23210558 1 23210559 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs12046210 1 23211843 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs309476 1 23212740 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23212845 1 23212846 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23213646 1 23213647 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs138752193 1 23213989 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs77377063 1 23216181 [T/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent variant.1611 1 23219372 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent exm30340 1 23219377 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_E477K,Missense_E477K,Missense_E477K,Missense_E477K 1:23219421-CA 1 23219421 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_N491K,Missense_N491K,Missense_N491K,Missense_N491K exm30343 1 23219431 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_V495M,Missense_V495M,Missense_V495M,Missense_V495M rs77501996 1 23221855 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent 1:23222019-CT 1 23222019 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_A549V,Silent,Missense_A549V,Missense_A549V exm30355 1 23222908 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_R569W,Silent,Missense_R568W,Missense_R568W rs309543 1 23225322 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs2675494 1 23227166 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent rs200952273 1 23232567 [A/T] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_I619N,Missense_I560N,Missense_I618N,Missense_I618N exm1768105 1 23232567 [A/T] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_I619N,Missense_I560N,Missense_I618N,Missense_I618N exm30372 1 23233263 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_V651A,Missense_V592A,Missense_V650A,Missense_V650A rs142173175 1 23233263 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_V651A,Missense_V592A,Missense_V650A,Missense_V650A rs309500 1 23233600 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent JHU_1.23233894 1 23233895 [C/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent Variant48176 1 23235518 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_G787R,Missense_G728R,Missense_G786R,Missense_G786R 1:23237019-AG 1 23237019 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_M884V,Missense_M825V,Missense_M883V,Missense_M883V JHU_1.23237674 1 23237675 [A/T] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 Silent,Silent,Silent,Silent 1:23238963-CT 1 23238963 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Missense_T909M,Missense_T850M,Missense_T908M,Missense_T908M 1:23240163-GA 1 23240163 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Silent,Silent,Missense_A990T,Silent 1:23240176-GA 1 23240176 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Silent,Silent,Missense_R994Q,Silent 1:23240244-GA 1 23240244 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Silent,Silent,Missense_G1017R,Silent Variant36 1 23240245 [I/D] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON exm2273319 1 23240250 [T/A] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Silent,Silent,Nonsense_K1019X,Silent 1:23240290-GA 1 23240290 [A/G] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Silent,Silent,Missense_G1032E,Silent 1:23240340-AC 1 23240340 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Silent,Silent,Missense_N1049H,Silent JHU_1.23243001 1 23243002 [A/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Silent,Silent,Silent,Silent rs309493 1 23243265 [T/C] NM_004442,NM_001309192,NM_001309193,NM_017449 EPHB2,EPHB2,EPHB2,EPHB2 EXON Silent,Silent,Silent,Silent rs72873425 1 23248386 [A/G] rs2817870 1 23253358 [T/C] rs11590344 1 23255854 [T/C] rs114862962 1 23256594 [A/C] rs12034166 1 23257059 [T/C] rs114450861 1 23258782 [T/C] rs141192789 1 23258865 [T/C] rs7553678 1 23259167 [A/G] JHU_1.23266938 1 23266939 [A/G] rs722993 1 23267090 [A/G] rs143473513 1 23269194 [A/G] rs309539 1 23274948 [T/C] rs141438960 1 23275182 [A/C] rs192055568 1 23276772 [G/C] rs620514 1 23278632 [A/G] rs12735075 1 23279651 [A/T] NM_001289974 LACTBL1 EXON Missense_W540R 1:23280383-AC 1 23280383 [A/C] NM_001289974 LACTBL1 EXON Missense_S296A 1:23280459-CT 1 23280459 [T/C] NM_001289974 LACTBL1 EXON Synonymous_P270P 1:23280491-GT 1 23280491 [T/G] NM_001289974 LACTBL1 EXON Missense_R260S chr1_23281901 1 23281901 [T/C] NM_001289974 LACTBL1 EXON Missense_A222T 1:23281917-GT 1 23281917 [T/G] NM_001289974 LACTBL1 EXON Synonymous_G216G JHU_1.23283174 1 23283175 [A/G] NM_001289974 LACTBL1 Silent JHU_1.23283186 1 23283187 [T/C] NM_001289974 LACTBL1 Silent JHU_1.23283942 1 23283943 [T/C] NM_001289974 LACTBL1 Silent 1:23285271-CT 1 23285271 [T/C] NM_001289974 LACTBL1 EXON Synonymous_P184P 1:23285349-CT 1 23285349 [T/C] NM_001289974 LACTBL1 EXON Synonymous_S158S rs309510 1 23285678 [A/G] NM_001289974 LACTBL1 Silent JHU_1.23285855 1 23285856 [T/C] NM_001289974 LACTBL1 Silent 1:23286463-CT 1 23286463 [T/C] NM_001289974 LACTBL1 EXON Synonymous_L127L rs7543064 1 23288580 [T/G] NM_001289974 LACTBL1 Silent rs6426775 1 23288828 [A/G] NM_001289974 LACTBL1 Silent rs10799776 1 23289397 [A/G] NM_001289974 LACTBL1 Silent rs78538754 1 23289841 [T/G] NM_001289974 LACTBL1 Silent rs138747463 1 23290764 [T/G] NM_001289974 LACTBL1 Silent 1:23290834-C-G 1 23290834 [G/C] NM_001289974 LACTBL1 Silent rs648322 1 23294839 [A/G] rs309533 1 23297510 [T/C] rs117962189 1 23299079 [T/C] JHU_1.23302469 1 23302470 [A/G] rs143719089 1 23303168 [A/G] rs4655141 1 23312025 [T/C] rs117512355 1 23312157 [G/C] rs74823597 1 23317496 [T/C] rs77655125 1 23322228 [A/G] 1:23337461-TC 1 23337461 [T/C] NM_001242521 TEX46 EXON Missense_H100R 1:23337617-GA 1 23337617 [A/G] NM_001242521 TEX46 Silent rs186562578 1 23338198 [A/G] NM_001242521 TEX46 Silent rs522802 1 23338984 [A/G] NM_001242521 TEX46 Silent JHU_1.23344074 1 23344075 [T/C] rs72657811 1 23344075 [T/C] rs114781360 1 23344144 [T/C] rs75667410 1 23345510 [T/C] JHU_1.23345509 1 23345510 [T/C] 1:23346432-CT 1 23346432 [T/C] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Missense_R115W,Missense_R115W,Missense_R115W rs1413974 1 23347125 [T/C] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent rs201256608 1 23357092 [A/T] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Missense_E161V,Missense_E161V,Missense_E161V rs75500174 1 23370605 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent JHU_1.23371653 1 23371654 [A/C] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent rs10917347 1 23376541 [T/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent exm2250884 1 23380259 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Synonymous_Q219Q,Synonymous_Q219Q,Synonymous_Q239Q rs80134560 1 23386605 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent rs34092336 1 23388032 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent rs75645451 1 23389467 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent JHU_1.23389691 1 23389692 [C/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent rs72657827 1 23392108 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent IlmnSeq_rs864309715 1 23395059 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Missense_E379K,Missense_E379K,Missense_E403K JHU_1.23396273 1 23396274 [T/C] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent variant.1615 1 23397857 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent 1:23399773-GT 1 23399773 [T/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Silent,Missense_L519F,Silent IlmnSeq_rs864309716 1 23403725 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Missense_D556G,Missense_D562G,Missense_D580G 1:23405476-TC 1 23405476 [T/C] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A Silent,Silent,Silent variant.1616 1 23408021 [A/C] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Nonsense_C727X,Nonsense_C733X,Nonsense_C751X 1:23408025-GA 1 23408025 [A/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Missense_A729T,Missense_A735T,Missense_A753T 1:23409835-CT 1 23409835 [T/C] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Missense_A846V,Missense_A852V,Missense_A870V JHU_1.23410137 1 23410138 [T/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Silent,Silent,Silent JHU_1.23410141 1 23410142 [T/G] NM_015013,NM_001363654,NM_001009999 KDM1A,KDM1A,KDM1A EXON Silent,Silent,Silent rs117560651 1 23411631 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Silent,Silent rs683893 1 23415102 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Silent,Silent exm30500 1 23415426 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Nonsense_R1065X,Nonsense_R1065X exm30506 1 23415518 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_S1034N,Missense_S1034N chr1_23415536 1 23415536 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_G1028E,Missense_G1028E exm1768688 1 23415545 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_E1025A,Missense_E1025A exm30509 1 23417732 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R1008Q,Missense_R1008Q exm30510 1 23417738 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R1006Q,Missense_R1006Q exm30511 1 23417739 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R1006W,Missense_R1006W exm30512 1 23417742 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R1005C,Missense_R1005C 1:23417891-CT 1 23417891 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R955K,Missense_R955K exm30518 1 23417894 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_Q954R,Missense_Q954R 1:23417972-CT 1 23417972 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R928Q,Missense_R928Q exm30527 1 23417994 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R921W,Missense_R921W exm30535 1 23418128 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R876Q,Missense_R876Q exm30536 1 23418153 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_D868N,Missense_D868N 1:23418573-TC 1 23418573 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_M728V,Missense_M728V exm30551 1 23418576 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_T727A,Missense_T727A exm30559 1 23418803 [G/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_S651C,Missense_S651C exm30562 1 23418835 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Synonymous_P640P,Synonymous_P640P exm30568 1 23418998 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_N586S,Missense_N586S exm30571 1 23419058 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_A566D,Missense_A566D rs477717 1 23419261 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Synonymous_S498S,Synonymous_S498S exm30580 1 23419283 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_T491I,Missense_T491I 1:23419319-GA 1 23419319 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_P479L,Missense_P479L exm30585 1 23419368 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_E463K,Missense_E463K rs3765407 1 23419374 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_Q461K,Missense_Q461K exm30586 1 23419374 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_Q461K,Missense_Q461K exm30587 1 23419383 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_G458S,Missense_G458S exm30590 1 23419436 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_S440N,Missense_S440N 1:23419560-GA 1 23419560 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R399W,Missense_R399W exm30603 1 23419737 [G/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_L340V,Missense_L340V exm30604 1 23419794 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_D321N,Missense_D321N exm30605 1 23419806 [A/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_S317A,Missense_S317A exm30607 1 23419914 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R281C,Missense_R281C 1:23419950-TC 1 23419950 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_N269D,Missense_N269D 1:23420034-GA 1 23420034 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_R241W,Missense_R241W 1:23420337-CTCA-C 1 23420337 [I/D] NM_033631,NM_001142546 LUZP1,LUZP1 EXON exm2232786 1 23420481 [A/T] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_M92L,Missense_M92L exm30625 1 23420637 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_A40T,Missense_A40T exm30626 1 23420650 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Missense_K35N,Missense_K35N JHU_1.23422987 1 23422988 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs149487912 1 23426361 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent JHU_1.23427963 1 23427964 [G/C] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs1208932 1 23429122 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs765803 1 23431777 [T/G] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs150656090 1 23433929 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs16827981 1 23435538 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 EXON Silent,Silent rs117592277 1 23440954 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs79086307 1 23441578 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent JHU_1.23443950 1 23443951 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs16828001 1 23446272 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent JHU_1.23452039 1 23452040 [A/G] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs17370091 1 23458118 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs77093077 1 23460333 [A/C] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent JHU_1.23470459 1 23470460 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs3845521 1 23472341 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs149807056 1 23472915 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs12410865 1 23487755 [T/C] NM_033631,NM_001142546 LUZP1,LUZP1 Silent,Silent rs643492 1 23501354 [T/C] JHU_1.23503371 1 23503372 [T/A] rs146877351 1 23504088 [T/C] rs2806561 1 23504795 [A/G] rs117140617 1 23506333 [A/G] JHU_1.23506559 1 23506560 [A/C] JHU_1.23511318 1 23511319 [A/G] rs641032 1 23513980 [A/G] JHU_1.23514512 1 23514513 [A/G] exm30636 1 23519593 [A/G] NM_000864 HTR1D EXON Missense_R374W indel.1622 1 23519612 [I/D] NM_000864 HTR1D EXON 1:23519616-GA 1 23519616 [A/G] NM_000864 HTR1D EXON Missense_A366V exm30645 1 23519851 [A/G] NM_000864 HTR1D EXON Missense_R288C exm30650 1 23519919 [A/G] NM_000864 HTR1D EXON Missense_S265L exm30651 1 23519930 [A/C] NM_000864 HTR1D EXON Missense_H261Q 1:23520091-TC 1 23520091 [T/C] NM_000864 HTR1D EXON Missense_I208V exm30668 1 23520111 [T/G] NM_000864 HTR1D EXON Missense_S201Y 1:23520156-GA 1 23520156 [A/G] NM_000864 HTR1D EXON Missense_S186L exm1768869 1 23520235 [T/C] NM_000864 HTR1D EXON Missense_A160T exm30677 1 23520259 [A/C] NM_000864 HTR1D EXON Missense_A152S 1:23520339-GA 1 23520339 [A/G] NM_000864 HTR1D EXON Missense_S125F exm30686 1 23520424 [T/C] NM_000864 HTR1D EXON Missense_A97T 1:23521340-G-A 1 23521340 [A/G] rs676643 1 23521340 [A/G] rs1738475 1 23536891 [G/C] exm-rs1738475 1 23536891 [G/C] JHU_1.23538989 1 23538990 [C/G] rs10917360 1 23539010 [A/G] JHU_1.23539330 1 23539331 [T/G] rs72879348 1 23541433 [A/G] rs117726716 1 23544865 [G/C] rs10917362 1 23547194 [T/C] rs77859307 1 23548178 [T/C] rs75456838 1 23551969 [A/G] rs74340686 1 23553806 [T/C] JHU_1.23556585 1 23556586 [T/C] rs1740482 1 23565599 [T/C] rs16828137 1 23574762 [A/G] JHU_1.23579473 1 23579474 [A/C] rs118181273 1 23579582 [T/C] rs142336726 1 23581873 [A/C] exm-rs2749146 1 23582880 [T/C] rs9658850 1 23587590 [A/G] rs75439977 1 23590311 [T/G] rs76302938 1 23592994 [A/G] rs116672177 1 23594425 [A/T] rs76320753 1 23596330 [T/C] rs117932641 1 23597780 [A/G] rs146846505 1 23601741 [T/G] rs61777115 1 23604944 [T/G] rs138920564 1 23606248 [T/C] rs656868 1 23607503 [T/G] rs16828167 1 23607715 [T/C] rs74974210 1 23614032 [T/C] rs2749158 1 23618460 [A/G] JHU_1.23618705 1 23618706 [T/C] rs72659770 1 23622513 [A/G] rs655600 1 23631625 [A/G] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs137882012 1 23635001 [C/G] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:23637146-TC 1 23637146 [T/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_N470S,Missense_N530S,Missense_N429S,Missense_N408S,Missense_N568S,Missense_N571S,Missense_N467S exm30701 1 23637261 [T/A] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_S432T,Missense_S492T,Missense_S391T,Missense_S370T,Missense_S530T,Missense_S533T,Missense_S429T exm30708 1 23637513 [T/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_I348V,Missense_I408V,Missense_I307V,Missense_I286V,Missense_I446V,Missense_I449V,Missense_I345V 1:23637779-CT 1 23637779 [T/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_E304K,Missense_E364K,Missense_E263K,Missense_E242K,Missense_E402K,Missense_E405K,Missense_E301K 1:23638155-T-C 1 23638155 [T/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1535179 1 23639009 [A/G] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR Silent,Silent,Silent,Silent,Silent,Silent,Silent rs145350334 1 23641949 [T/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.23643375 1 23643376 [C/G] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.23644660 1 23644661 [T/A] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR Silent,Silent,Silent,Silent,Silent,Silent,Silent exm30722 1 23648027 [T/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_V168I,Missense_V231I,Missense_V130I,Missense_V109I,Missense_V269I,Missense_V269I,Missense_V168I 1:23648137-CT 1 23648137 [T/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_R131H,Missense_R194H,Missense_R93H,Missense_R72H,Missense_R232H,Missense_R232H,Missense_R131H 1:23650161-GA 1 23650161 [A/G] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_A87V,Missense_A150V,Missense_A49V,Silent,Missense_A188V,Missense_A188V,Missense_A87V rs146012849 1 23655925 [T/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.23666052 1 23666053 [A/G] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2103911 1 23667751 [A/C] NM_001102399,NM_001297620,NM_001297622,NM_001297621,NM_005826,NM_001102398,NM_001102397 HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR,HNRNPR Silent,Silent,Silent,Silent,Silent,Silent,Silent rs143693213 1 23671520 [T/A] JHU_1.23675825 1 23675826 [T/C] rs618036 1 23679843 [T/G] rs646193 1 23688178 [A/G] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Silent,Silent 1:23688469-GA 1 23688469 [A/G] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_T469M,Missense_T469M exm30746 1 23688470 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_T469A,Missense_T469A indel.1627 1 23688514 [D/I] NM_030634,NM_001077195 ZNF436,ZNF436 EXON indel.1628 1 23688635 [I/D] NM_030634,NM_001077195 ZNF436,ZNF436 EXON 1:23688730-TC 1 23688730 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_K382R,Missense_K382R 1:23688754-CA 1 23688754 [A/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_S374I,Missense_S374I 1:23688902-GA 1 23688902 [A/G] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_R325C,Missense_R325C rs2849028 1 23688933 [A/G] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Synonymous_N314N,Synonymous_N314N 1:23689078-GA 1 23689078 [A/G] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_A266V,Missense_A266V 1:23689093-CT 1 23689093 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_R261Q,Missense_R261Q 1:23689097-TC 1 23689097 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_S260G,Missense_S260G 1:23689283-CT 1 23689283 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_E198K,Missense_E198K exm30774 1 23689458 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_I139M,Missense_I139M exm30776 1 23689580 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_G99R,Missense_G99R exm30781 1 23689657 [A/G] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_V73A,Missense_V73A JHU_1.23690660 1 23690661 [C/G] NM_030634,NM_001077195 ZNF436,ZNF436 Silent,Silent 1:23693642-TC 1 23693642 [T/C] NM_030634,NM_001077195 ZNF436,ZNF436 EXON Missense_D18G,Missense_D18G 1:23695959-GA 1 23695959 [A/G] NM_001077195,NR_033690,NR_033691 ZNF436,ZNF436-AS1,ZNF436-AS1 EXON Silent,Silent,Silent 1:23695993-TC 1 23695993 [T/C] NM_001077195,NR_033690,NR_033691 ZNF436,ZNF436-AS1,ZNF436-AS1 EXON Silent,Silent,Silent 1:23696030-GT 1 23696030 [T/G] NM_001077195,NR_033690,NR_033691 ZNF436,ZNF436-AS1,ZNF436-AS1 EXON Silent,Silent,Silent newrs187125393 1 23696092 [A/C] NM_001077195,NR_033690,NR_033691 ZNF436,ZNF436-AS1,ZNF436-AS1 EXON Silent,Silent,Silent 1:23696152-GA 1 23696152 [A/G] NM_001077195,NR_033690,NR_033691 ZNF436,ZNF436-AS1,ZNF436-AS1 EXON Silent,Silent,Silent 1:23697998-TA 1 23697998 [A/T] NR_033690,NR_033691 ZNF436-AS1,ZNF436-AS1 EXON Silent,Silent rs141847875 1 23699138 [T/C] rs9887921 1 23700811 [T/C] rs115344413 1 23703768 [A/G] rs6666439 1 23706653 [T/C] rs2298632 1 23710475 [T/C] NM_003196 TCEA3 Silent 1:23710475-C-T 1 23710475 [T/C] NM_003196 TCEA3 Silent JHU_1.23718584 1 23718585 [A/C] NM_003196 TCEA3 Silent 1:23392445_23392446ins 1 23718938 [D/I] NM_003196 TCEA3 JHU_1.23719231 1 23719232 [T/C] NM_003196 TCEA3 Silent rs2486078 1 23720260 [T/G] NM_003196 TCEA3 Silent exm30827 1 23720422 [T/C] NM_003196 TCEA3 EXON Missense_V257M indel.1632 1 23720492 [D/I] NM_003196 TCEA3 EXON rs61777153 1 23720822 [A/G] NM_003196 TCEA3 Silent rs7516962 1 23723935 [A/G] NM_003196 TCEA3 Silent 1:23724060-CA 1 23724060 [A/C] NM_003196 TCEA3 EXON Missense_K214N rs143051112 1 23726701 [A/G] NM_003196 TCEA3 Silent rs1767140 1 23729287 [T/C] NM_003196 TCEA3 Silent exm2260051 1 23731819 [A/G] NM_003196 TCEA3 Silent 1KG_1_23735172 1 23735172 [I/D] NM_003196 TCEA3 EXON JHU_1.23736507 1 23736508 [T/C] NM_003196 TCEA3 Silent JHU_1.23740480 1 23740481 [A/G] NM_003196 TCEA3 Silent rs1787646 1 23742152 [T/C] NM_003196 TCEA3 Silent rs138744378 1 23743264 [T/C] NM_003196 TCEA3 Silent rs370564219 1 23743605 [A/G] NM_003196 TCEA3 Silent exm30846 1 23743751 [C/G] NM_003196 TCEA3 EXON Missense_P124R variant.1633 1 23743761 [A/G] NM_003196 TCEA3 EXON Nonsense_R121X exm30848 1 23743767 [A/T] NM_003196 TCEA3 EXON Nonsense_K119X variant.1635 1 23743812 [A/C] NM_003196 TCEA3 EXON Nonsense_E104X exm30856 1 23743859 [T/C] NM_003196 TCEA3 EXON Missense_E88G rs3795295 1 23744169 [A/G] NM_003196 TCEA3 Silent 1:23744468-CT 1 23744468 [T/C] NM_003196 TCEA3 EXON Missense_R56H JHU_1.23752961 1 23752962 [T/G] JHU_1.23754916 1 23754917 [T/C] exm30867 1 23756350 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_X904W,Missense_X895W exm30868 1 23756359 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_L901S,Missense_L892S exm30870 1 23756377 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A895E,Missense_A886E rs1198433 1 23756695 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent exm30873 1 23757529 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_P879L,Missense_P870L exm30878 1 23757593 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R858W,Missense_R849W exm30880 1 23757596 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R857W,Missense_R848W 1:23757614-CT 1 23757614 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E851K,Missense_E842K exm30887 1 23758267 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R823Q,Missense_R814Q exm30898 1 23759594 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G767R,Missense_G758R exm30899 1 23759609 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R762W,Missense_R753W exm30902 1 23759654 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E747K,Missense_E738K exm30904 1 23759743 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A717D,Missense_A708D exm1769825 1 23760011 [G/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_Q678H,Missense_Q669H exm30909 1 23760013 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_Q678K,Missense_Q669K exm30910 1 23760133 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E669K,Missense_E660K exm30911 1 23760157 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_I661V,Missense_I652V exm30924 1 23761026 [C/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G612A,Missense_G603A exm30925 1 23761027 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G612S,Missense_G603S JHU_1.23761027 1 23761028 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Synonymous_N611N,Synonymous_N602N newrs147652133 1 23761066 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Nonsense_Q599X,Nonsense_Q590X exm30931 1 23761077 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_K595T,Missense_K586T 1:23761096-CT 1 23761096 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_V589I,Missense_V580I JHU_1.23761260 1 23761261 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent 1:23762423-TC 1 23762423 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_N557S,Missense_N548S exm30941 1 23762428 [A/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_I555M,Missense_I546M 1:23763535-GA 1 23763535 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_P449S,Missense_P440S exm30955 1 23763676 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A430V,Missense_A421V 1:23763718-CA 1 23763718 [A/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G416V,Missense_G407V exm30959 1 23763767 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_A400T,Missense_A391T exm30961 1 23763938 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E377A,Missense_E368A exm30962 1 23765240 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_H368Y,Missense_H359Y 1:23765701-TC 1 23765701 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R323G,Missense_R314G rs1621803 1 23765911 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent exm-rs1077514 1 23766233 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent rs1077514 1 23766233 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent rs17184553 1 23767487 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent 1:23767631-GA 1 23767631 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_T303M,Missense_T294M exm30981 1 23767921 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R265W,Missense_R256W exm30983 1 23768174 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_E241K,Missense_E232K 1:23768685-TC 1 23768685 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_Q222R,Missense_Q213R exm30987 1 23768696 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_F218L,Missense_F209L exm30990 1 23768748 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G201E,Missense_G192E 1:23768765-CA 1 23768765 [A/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent exm30994 1 23769004 [T/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_H192P,Missense_H183P 1:23769080-GA 1 23769080 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_R167W,Missense_R158W rs74223758 1 23769641 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent rs78882457 1 23772112 [A/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent rs149729763 1 23776331 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent rs74062718 1 23778004 [G/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Synonymous_L147L,Silent exm31000 1 23779190 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Synonymous_Q141Q,Synonymous_Q141Q exm31007 1 23779253 [C/G] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_L120F,Missense_L120F rs186050092 1 23782055 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent exm31017 1 23782519 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 EXON Missense_G68D,Missense_G68D rs117391753 1 23788468 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent rs55858312 1 23793310 [T/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent rs7522616 1 23794914 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent rs145664481 1 23800945 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent rs12134773 1 23801535 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent JHU_1.23803442 1 23803443 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent JHU_1.23807765 1 23807766 [A/C] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent JHU_1.23810381 1 23810382 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent rs61778891 1 23810389 [A/G] NM_017707,NM_001143778 ASAP3,ASAP3 Silent,Silent rs114228870 1 23813207 [A/G] rs139690184 1 23816262 [A/G] rs2742963 1 23822178 [T/G] rs1009590 1 23823798 [C/G] rs41300116 1 23834438 [T/C] NM_004091 E2F2 EXON Silent rs78357686 1 23835630 [T/C] NM_004091 E2F2 EXON Silent exm31029 1 23836407 [T/C] NM_004091 E2F2 EXON Missense_D427N exm31032 1 23836478 [A/C] NM_004091 E2F2 EXON Missense_F403C rs2282720 1 23839769 [A/G] NM_004091 E2F2 Silent rs3218194 1 23840920 [T/G] NM_004091 E2F2 Silent exm31044 1 23842860 [T/C] NM_004091 E2F2 EXON Missense_D338N 1:23842943-GA 1 23842943 [A/G] NM_004091 E2F2 EXON Missense_P310L rs3218177 1 23845288 [A/G] NM_004091 E2F2 Silent exm31052 1 23845566 [A/G] NM_004091 E2F2 EXON Missense_T265I newrs145585855 1 23845623 [A/G] NM_004091 E2F2 Silent 1:23847406-TC 1 23847406 [T/C] NM_004091 E2F2 EXON Missense_R246G exm31057 1 23847464 [A/C] NM_004091 E2F2 EXON Missense_Q226H 1:23847486-TC 1 23847486 [T/C] NM_004091 E2F2 EXON Missense_N219S exm31060 1 23847529 [T/C] NM_004091 E2F2 EXON Missense_G205R exm31062 1 23847537 [A/G] NM_004091 E2F2 EXON Missense_T202I rs2038027 1 23848042 [A/G] NM_004091 E2F2 Silent JHU_1.23849035 1 23849036 [A/G] NM_004091,NR_110799 E2F2,LOC101928163 Silent,Silent exm31086 1 23857247 [A/C] NM_004091 E2F2 EXON Synonymous_G13G JHU_1.23867223 1 23867224 [T/C] rs140434444 1 23872319 [A/G] rs147325642 1 23877962 [A/G] rs877931 1 23880703 [T/C] rs877930 1 23880978 [A/G] rs1050096 1 23884661 [A/G] NM_002167 ID3 EXON Silent rs2920 1 23884780 [T/C] NM_002167 ID3 EXON Silent exm31094 1 23885480 [A/C] NM_002167 ID3 EXON Missense_S111A rs201701997 1 23885489 [A/G] NM_002167 ID3 EXON Missense_L108F exm31097 1 23885498 [T/C] NM_002167 ID3 EXON Missense_T105A rs2067053 1 23885599 [T/C] NM_002167 ID3 Silent chr1_23885626 1 23885626 [A/G] NM_002167 ID3 EXON Missense_P98S exm31106 1 23885662 [C/G] NM_002167 ID3 EXON Missense_E86Q exm31115 1 23885773 [T/A] NM_002167 ID3 EXON Missense_S49T exm31123 1 23885835 [T/C] NM_002167 ID3 EXON Missense_R28Q 1:23885845-CA 1 23885845 [A/C] NM_002167 ID3 EXON Missense_A25S 1:23885893-CT 1 23885893 [T/C] NM_002167 ID3 EXON Missense_G9S JHU_1.23886072 1 23886073 [T/C] NM_002167 ID3 EXON Silent JHU_1.23886150 1 23886151 [T/C] NM_002167 ID3 EXON Silent rs1555025 1 23886935 [T/G] rs72663228 1 23888085 [T/C] JHU_1.23894459 1 23894460 [A/G] rs877518 1 23895154 [A/G] JHU_1.23896145 1 23896146 [A/C] rs184135608 1 23900834 [T/C] rs2811946 1 23902416 [A/C] rs10917395 1 23904345 [A/G] JHU_1.23907576 1 23907577 [T/A] JHU_1.23909323 1 23909324 [T/A] JHU_1.23909381 1 23909382 [A/C] rs72870520 1 23912519 [T/C] rs58240175 1 23913703 [T/C] rs2811950 1 23915048 [T/G] JHU_1.23917706 1 23917707 [A/C] rs191939251 1 23917787 [A/G] 1:23918970-AG 1 23918970 [A/G] variant.1653 1 23919307 [T/G] rs7551441 1 23919553 [A/G] JHU_1.23922915 1 23922916 [T/C] JHU_1.23924554 1 23924555 [T/G] JHU_1.23925874 1 23925875 [A/G] JHU_1.23926215 1 23926216 [A/G] rs4649100 1 23927929 [T/C] JHU_1.23929401 1 23929402 [A/G] rs78963839 1 23933265 [G/C] rs2811986 1 23937567 [A/G] rs114644847 1 23940184 [T/C] JHU_1.23940635 1 23940636 [T/G] JHU_1.23940659 1 23940660 [G/C] rs7534452 1 23941052 [T/C] rs113347774 1 23941763 [T/C] rs6677615 1 23942802 [A/G] rs4649102 1 23943905 [A/G] rs2864884 1 23945443 [T/C] exm2268664 1 23945443 [T/C] rs72870548 1 23947505 [T/C] rs75771130 1 23948104 [T/C] rs2811981 1 23950147 [A/G] JHU_1.23954527 1 23954528 [T/C] NM_001348075 MDS2 Silent rs77899304 1 23956575 [T/C] NM_001348075 MDS2 Silent rs2811956 1 23957318 [A/G] NM_001348075 MDS2 Silent 1:23965704-AC 1 23965704 [A/C] NM_001348075 MDS2 EXON Missense_N37H rs10917404 1 23965829 [T/C] NM_001348075 MDS2 Silent 1:23966205-GA 1 23966205 [A/G] NM_001348075 MDS2 EXON Missense_G61E 1:23966261-CT 1 23966261 [T/C] NM_001348075 MDS2 EXON Missense_R80C rs55656416 1 23970130 [T/C] rs6663307 1 23970917 [G/C] rs2864098 1 23972740 [A/G] JHU_1.23977783 1 23977784 [A/C] JHU_1.23980811 1 23980812 [C/G] rs6684096 1 23985309 [A/G] rs7515510 1 23988361 [A/G] JHU_1.23988913 1 23988914 [A/G] rs12128812 1 23989364 [A/G] JHU_1.23993913 1 23993914 [T/C] rs7549155 1 23994072 [A/G] rs114927305 1 23997652 [A/G] rs10799802 1 24009544 [T/C] rs3753270 1 24018224 [T/C] JHU_1.24018276 1 24018277 [C/G] NM_001199802 RPL11 EXON Silent 1:24019145-GA 1 24019145 [A/G] NM_001199802,NM_000975 RPL11,RPL11 EXON Missense_R17H,Missense_R18H 1:24020362-C-T 1 24020362 [T/C] NM_001199802,NM_000975 RPL11,RPL11 EXON Nonsense_R74X,Nonsense_R75X 1:24021808-C-T 1 24021808 [T/C] NM_001199802,NM_000975 RPL11,RPL11 Silent,Silent 1:24022321-CAAG-C 1 24022321 [I/D] NM_001199802,NM_000975 RPL11,RPL11 EXON 1:24022382-GA 1 24022382 [A/G] NM_001199802,NM_000975 RPL11,RPL11 EXON Missense_R163H,Missense_R164H 1:24022414-CA 1 24022414 [A/C] NM_001199802,NM_000975 RPL11,RPL11 Silent,Silent rs2280437 1 24022437 [A/G] NM_001199802,NM_000975 RPL11,RPL11 Silent,Silent exm31220 1 24022915 [A/G] NM_001199802,NM_000975 RPL11,RPL11 EXON Silent,Silent 1:24032017-C-T 1 24032017 [T/C] rs149078197 1 24034593 [A/G] rs71640808 1 24036485 [A/G] 1:23710865_23710866ins 1 24037355 [D/I] rs75096850 1 24038221 [T/G] rs12121852 1 24039173 [A/G] JHU_1.24039172 1 24039173 [A/G] JHU_1.24042810 1 24042811 [A/G] JHU_1.24042813 1 24042814 [A/G] rs561733 1 24049595 [T/G] rs10917420 1 24062987 [T/C] JHU_1.24063921 1 24063922 [A/T] JHU_1.24067047 1 24067048 [T/C] rs55897485 1 24067143 [T/C] JHU_1.24073121 1 24073122 [A/G] NM_003198 ELOA Silent 1:24077352-AG 1 24077352 [A/G] NM_003198 ELOA EXON Missense_E112G 1:24077376-CT 1 24077376 [T/C] NM_003198 ELOA EXON Missense_S120F exm31237 1 24077388 [A/C] NM_003198 ELOA EXON Missense_P124H rs142849555 1 24077388 [A/C] NM_003198 ELOA EXON Missense_P124H exm31238 1 24077390 [T/C] NM_003198 ELOA EXON Missense_R125W exm31239 1 24077391 [A/G] NM_003198 ELOA EXON Missense_R125Q 1:24077433-AG 1 24077433 [A/G] NM_003198 ELOA EXON Missense_Q139R exm31243 1 24077451 [T/C] NM_003198 ELOA EXON Missense_T145M exm31244 1 24077460 [A/G] NM_003198 ELOA EXON Missense_R148Q exm2232870 1 24077469 [A/G] NM_003198 ELOA EXON Missense_S151N 1:24077513-GA 1 24077513 [A/G] NM_003198 ELOA EXON Missense_E166K 1:24077554-TG 1 24077554 [T/G] NM_003198 ELOA EXON Missense_D179E exm31270 1 24077853 [A/G] NM_003198 ELOA EXON Missense_R279H exm31272 1 24077943 [T/C] NM_003198 ELOA EXON Missense_P309L exm31274 1 24077957 [A/G] NM_003198 ELOA EXON Missense_N314D exm31277 1 24077987 [A/G] NM_003198 ELOA EXON Missense_V324I exm31278 1 24077994 [A/G] NM_003198 ELOA EXON Missense_K326R exm31281 1 24078234 [T/C] NM_003198 ELOA EXON Missense_L406S exm31283 1 24078372 [T/C] NM_003198 ELOA EXON Missense_T452I 1:24078619-T-G 1 24078619 [T/G] NM_003198 ELOA Silent exm31295 1 24078940 [T/C] NM_003198 ELOA EXON Missense_A516V rs144826294 1 24080617 [A/C] NM_003198 ELOA EXON Missense_E548A exm31299 1 24080617 [A/C] NM_003198 ELOA EXON Missense_E548A exm31302 1 24080742 [A/G] NM_003198 ELOA EXON Missense_D590N JHU_1.24082285 1 24082286 [A/T] NM_003198 ELOA Silent rs142679874 1 24082334 [T/C] NM_003198 ELOA EXON Missense_V624A exm31308 1 24082334 [T/C] NM_003198 ELOA EXON Missense_V624A exm31313 1 24082402 [A/G] NM_003198 ELOA EXON Missense_E647K rs78642828 1 24082402 [A/G] NM_003198 ELOA EXON Missense_E647K exm31317 1 24082466 [A/G] NM_003198 ELOA EXON Missense_R668Q 1:24082817-GA 1 24082817 [A/G] NM_003198 ELOA EXON Missense_V702I 1:24082841-GT 1 24082841 [T/G] NM_003198 ELOA EXON Nonsense_G710X exm31320 1 24082853 [A/G] NM_003198 ELOA EXON Missense_A714T rs141826083 1 24082853 [A/G] NM_003198 ELOA EXON Missense_A714T exm31322 1 24083471 [A/G] NM_003198 ELOA EXON Missense_S731G rs145432831 1 24083609 [G/C] NM_003198 ELOA EXON Missense_V777L exm31334 1 24083609 [G/C] NM_003198 ELOA EXON Missense_V777L rs2076346 1 24083649 [T/C] NM_003198 ELOA Silent rs116935781 1 24083792 [A/C] NM_003198 ELOA Silent JHU_1.24084319 1 24084320 [A/T] NM_003198 ELOA Silent rs181923563 1 24087564 [T/C] NM_003198,NR_038280 ELOA,ELOA-AS1 EXON Silent,Silent rs1045017 1 24088128 [A/G] NM_003198,NR_038280 ELOA,ELOA-AS1 EXON Silent,Silent rs188995868 1 24090671 [A/G] NR_038280 ELOA-AS1 Silent rs140569782 1 24095576 [T/C] NR_038280 ELOA-AS1 Silent rs148553083 1 24099644 [T/C] NR_038280 ELOA-AS1 Silent rs7514394 1 24100223 [T/C] NR_038280 ELOA-AS1 Silent JHU_1.24102385 1 24102386 [T/C] NR_038280 ELOA-AS1 Silent rs200698380 1 24106322 [A/G] NM_020362 PITHD1 Silent exm31357 1 24112236 [A/G] NM_020362 PITHD1 EXON Missense_R131Q 1:24113768-CT 1 24113768 [T/C] NM_020362 PITHD1 EXON Missense_R180C 1:24113773-GAC-G 1 24113773 [I/D] NM_020362 PITHD1 EXON JHU_1.24117834 1 24117835 [A/G] NM_007260 LYPLA2 Silent 1:24119247-CT 1 24119247 [T/C] NM_007260 LYPLA2 EXON Synonymous_A25A 1:24120818-GA 1 24120818 [A/G] NM_007260 LYPLA2 Silent 1:24120843-CA 1 24120843 [A/C] NM_007260 LYPLA2 Silent 1:24121214-CT 1 24121214 [T/C] NM_007260 LYPLA2 EXON Missense_P230S JHU_1.24121600 1 24121601 [T/C] NM_007260 LYPLA2 EXON Silent Variant48177 1 24122482 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_R335H,Missense_R335H,Missense_R335H rs28940885 1 24122673 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_G319E,Missense_G319E,Missense_G319E exm31426 1 24122673 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_G319E,Missense_G319E,Missense_G319E 1:24122706-TC 1 24122706 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_Y308C,Missense_Y308C,Missense_Y308C rs143694860 1 24122717 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Synonymous_V304V,Synonymous_V304V,Synonymous_V304V rs137853861 1 24122724 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_G302D,Missense_G302D,Missense_G302D 1:24122986-C-T 1 24122986 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE Silent,Silent,Silent 1:24123060-GA 1 24123060 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_T271M,Missense_T271M,Missense_T271M 1:24123188-CT 1 24123188 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_R265Q,Missense_R265Q,Missense_R265Q rs28940884 1 24123212 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_K257R,Missense_K257R,Missense_K257R exm31445 1 24123212 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_K257R,Missense_K257R,Missense_K257R Variant48182 1 24123417 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_R220W,Missense_R220W,Missense_R220W exm31460 1 24123555 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_I204T,Missense_I204T,Missense_I204T rs121908045 1 24123618 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_L183P,Missense_L183P,Missense_L183P ilmnseq_rs137853859 1 24124208 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_R169W,Missense_R169W,Missense_R169W Variant48186 1 24124220 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_E165K,Missense_E165K,Missense_E165K 1:24124264-GA 1 24124264 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_T150M,Missense_T150M,Missense_T150M seq-rs727503943 1 24124305 [T/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Nonsense_Y136X,Nonsense_Y136X,Nonsense_Y136X rs121908047 1 24124678 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_V94M,Missense_V94M,Missense_V94M exm31480 1 24124692 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_A89V,Missense_A89V,Missense_A89V rs201437329 1 24124692 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_A89V,Missense_A89V,Missense_A89V 1:24125085-CT 1 24125085 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE Silent,Silent,Silent exm31484 1 24125170 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_R58C,Missense_R58C,Missense_R58C rs199591357 1 24125173 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_G57S,Missense_G57S,Missense_G57S rs144492228 1 24125380 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_R40C,Missense_R40C,Missense_R40C exm31487 1 24125380 [A/G] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_R40C,Missense_R40C,Missense_R40C rs121908046 1 24125397 [T/C] NM_001127621,NM_000403,NM_001008216 GALE,GALE,GALE EXON Missense_N34S,Missense_N34S,Missense_N34S 1:24127864-A-C 1 24127864 [A/C] seq-rs786205431 1 24129016 [I/D] NM_000191,NM_001166059 HMGCL,HMGCL EXON ilmnseq_rs786205431 1 24129016 [I/D] NM_000191,NM_001166059 HMGCL,HMGCL EXON rs60144614 1 24129448 [A/C] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent JHU_1.24130357 1 24130358 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent 1:24130856-GA 1 24130856 [A/G] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent Variant15881 1 24130913 [D/I] NM_000191,NM_001166059 HMGCL,HMGCL EXON Variant48191 1 24130970 [A/G] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_C266R,Missense_C195R seq-rs727503963 1 24134677 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_H233R,Missense_H162R Variant48192 1 24134773 [T/G] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_S201Y,Missense_S130Y JHU_1.24137058 1 24137059 [A/G] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent 1:24137225 1 24137225 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent HMGCL:c.561+1G>A 1 24137225 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent Variant48193 1 24137266 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_C174Y,Silent Variant15882 1 24137281 [I/D] NM_000191,NM_001166059 HMGCL,HMGCL EXON rs150580563 1 24137553 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent Variant48195 1 24140683 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_R165Q,Silent 1:24140723-CT 1 24140723 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_A152T,Silent exm31525 1 24140734 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_Q148R,Silent 1:24140758-TC 1 24140758 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_N140S,Silent newrs189198317 1 24143165 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Synonymous_A116A,Synonymous_A116A exm1770777 1 24143165 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Synonymous_A116A,Synonymous_A116A exm1770778 1 24143173 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_E114K,Missense_E114K exm2232878 1 24143974 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_V82I,Missense_V82I rs121964996 1 24144010 [C/G] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_V70L,Missense_V70L 1:24144010-G-C 1 24144010 [C/G] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_V70L,Missense_V70L exm31533 1 24144036 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_D61G,Missense_D61G exm31534 1 24144067 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_V51I,Missense_V51I rs121964997 1 24147022 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_R41Q,Missense_R41Q ilmnseq_rs121964997 1 24147022 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_R41Q,Missense_R41Q ilmnseq_rs763494292 1 24147035 [A/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Nonsense_E37X,Nonsense_E37X rs2502979 1 24149315 [A/C] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent rs74063306 1 24151121 [A/G] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent exm2250937 1 24151858 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Synonymous_A16A,Synonymous_A16A 1:24151996-C-A 1 24151996 [A/C] JHU_1.24159264 1 24159265 [A/G] rs114399781 1 24168338 [T/C] rs10917430 1 24170458 [T/C] exm31549 1 24172332 [T/C] NM_000147 FUCA1 EXON Missense_G425E Variant48201 1 24172608 [A/C] NM_000147 FUCA1 EXON Nonsense_G406X 1:24174093-T-G 1 24174093 [T/G] NM_000147 FUCA1 Silent exm31554 1 24175151 [A/G] NM_000147 FUCA1 EXON Missense_T383I exm31556 1 24175172 [T/C] NM_000147 FUCA1 EXON Missense_R376Q seq-rs794727774 1 24175174 [T/C] NM_000147 FUCA1 EXON Nonsense_W375X indel.1673 1 24175236 [D/I] NM_000147 FUCA1 EXON 1:24180912-AG 1 24180912 [A/G] NM_000147 FUCA1 EXON Missense_S303P 1:24180954-GA 1 24180954 [A/G] NM_000147 FUCA1 EXON Missense_P289S exm31570 1 24180962 [T/C] NM_000147 FUCA1 EXON Missense_Q286R var_1_24180963 1 24180963 [A/G] NM_000147 FUCA1 EXON Nonsense_Q286X exm31573 1 24181041 [T/C] NM_000147 FUCA1 EXON Missense_V260I variant.1675 1 24186283 [T/C] NM_000147 FUCA1 Silent Variant48205 1 24189624 [A/C] NM_000147 FUCA1 EXON Missense_S221I Variant15884 1 24189625 [I/D] NM_000147 FUCA1 EXON 1KG_1_24189631 1 24189631 [I/D] NM_000147 FUCA1 EXON 1:24189754-GA 1 24189754 [A/G] NM_000147 FUCA1 EXON Missense_R178C rs2228424 1 24192068 [A/G] NM_000147 FUCA1 EXON Missense_P146L exm31586 1 24192068 [A/G] NM_000147 FUCA1 EXON Missense_P146L exm31587 1 24192072 [A/G] NM_000147 FUCA1 EXON Missense_W145R rs150062050 1 24192072 [A/G] NM_000147 FUCA1 EXON Missense_W145R exm31589 1 24192103 [G/C] NM_000147 FUCA1 EXON Missense_L134F JHU_1.24193835 1 24193836 [C/G] NM_000147 FUCA1 Silent rs3003329 1 24193875 [T/C] NM_000147 FUCA1 Silent 1:24194439-CA 1 24194439 [A/C] NM_000147 FUCA1 EXON Missense_R113L 1:24194497-GA 1 24194497 [A/G] NM_000147 FUCA1 EXON Missense_R94C 1:24194517-GA 1 24194517 [A/G] NM_000147 FUCA1 EXON Missense_P87L 1:24194581-CA 1 24194581 [A/C] NM_000147 FUCA1 EXON Missense_V66L chr1_24194707 1 24194707 [T/C] NM_000147 FUCA1 EXON Missense_A24T 1:24194770-CA 1 24194770 [A/C] NM_000147 FUCA1 EXON Missense_A3S JHU_1.24196197 1 24196198 [A/G] var_1_24201027 1 24201028 [D/I] NM_001841 CNR2 EXON exm31614 1 24201065 [A/G] NM_001841 CNR2 EXON Missense_P348L exm31617 1 24201095 [A/G] NM_001841 CNR2 EXON Missense_T338I 1:24201120-CT 1 24201120 [T/C] NM_001841 CNR2 EXON Missense_E330K exm31621 1 24201162 [A/G] NM_001841 CNR2 EXON Missense_H316Y exm31636 1 24201402 [A/G] NM_001841 CNR2 EXON Nonsense_R236X exm31641 1 24201513 [T/C] NM_001841 CNR2 EXON Missense_A199T rs2501431 1 24201643 [A/G] NM_001841 CNR2 EXON Synonymous_G155G exm31650 1 24201711 [T/G] NM_001841 CNR2 EXON Missense_L133I exm31651 1 24201716 [T/C] NM_001841 CNR2 EXON Missense_R131Q exm31652 1 24201717 [A/G] NM_001841 CNR2 EXON Nonsense_R131X rs150233022 1 24201717 [A/G] NM_001841 CNR2 EXON Nonsense_R131X 1:24201771 1 24201771 [T/C] NM_001841 CNR2 EXON Missense_V113M rs139756160 1 24201779 [A/G] NM_001841 CNR2 EXON Missense_I110T exm31657 1 24201779 [A/G] NM_001841 CNR2 EXON Missense_I110T exm31665 1 24201911 [T/C] NM_001841 CNR2 EXON Missense_R66Q exm31668 1 24201920 [T/C] NM_001841 CNR2 EXON Missense_Q63R exm31671 1 24202019 [T/C] NM_001841 CNR2 EXON Missense_G30D rs58584612 1 24205560 [A/G] NM_001841 CNR2 Silent JHU_1.24207491 1 24207492 [A/G] NM_001841 CNR2 Silent rs114198973 1 24208383 [T/A] NM_001841 CNR2 Silent rs4625225 1 24209971 [T/C] NM_001841 CNR2 Silent JHU_1.24215812 1 24215813 [T/C] NM_001841 CNR2 Silent JHU_1.24215993 1 24215994 [A/T] NM_001841 CNR2 Silent JHU_1.24218648 1 24218649 [T/A] NM_001841 CNR2 Silent rs139214012 1 24219021 [C/G] NM_001841 CNR2 Silent JHU_1.24219581 1 24219582 [T/C] NM_001841 CNR2 Silent rs9424398 1 24221834 [T/G] NM_001841 CNR2 Silent kgp1774784 1 24221935 [A/G] NM_001841 CNR2 Silent rs116164842 1 24228417 [G/C] NM_001841 CNR2 Silent JHU_1.24230664 1 24230665 [A/G] NM_001841 CNR2 Silent kgp2196568 1 24231016 [A/G] NM_001841 CNR2 Silent rs76234297 1 24234966 [T/C] NM_001841 CNR2 Silent JHU_1.24240232 1 24240233 [T/G] JHU_1.24240552 1 24240553 [G/C] rs4649138 1 24241216 [A/G] rs77480907 1 24245923 [A/G] JHU_1.24246028 1 24246029 [T/C] JHU_1.24251650 1 24251651 [T/C] rs28493372 1 24252592 [T/C] JHU_1.24257040 1 24257041 [A/G] JHU_1.24257622 1 24257623 [T/C] JHU_1.24257689 1 24257690 [T/C] JHU_1.24257997 1 24257998 [A/G] JHU_1.24258862 1 24258863 [A/G] JHU_1.24260169 1 24260170 [T/C] JHU_1.24260215 1 24260216 [T/C] JHU_1.24260418 1 24260419 [T/C] JHU_1.24260472 1 24260473 [A/T] JHU_1.24263179 1 24263180 [A/C] JHU_1.24263240 1 24263241 [T/C] JHU_1.24263393 1 24263394 [A/G] JHU_1.24263512 1 24263513 [G/C] JHU_1.24265545 1 24265546 [A/G] JHU_1.24265667 1 24265668 [T/C] JHU_1.24265725 1 24265726 [T/C] JHU_1.24266959 1 24266960 [T/C] JHU_1.24268664 1 24268665 [A/C] JHU_1.24268735 1 24268736 [T/C] JHU_1.24273747 1 24273748 [T/C] JHU_1.24276643 1 24276644 [A/G] JHU_1.24277303 1 24277304 [A/G] JHU_1.24277344 1 24277345 [A/G] JHU_1.24278128 1 24278129 [A/G] JHU_1.24278214 1 24278215 [T/C] JHU_1.24278417 1 24278418 [T/G] JHU_1.24279578 1 24279579 [A/G] JHU_1.24279817 1 24279818 [T/C] JHU_1.24281020 1 24281021 [A/G] JHU_1.24281463 1 24281464 [A/C] JHU_1.24282011 1 24282012 [A/C] JHU_1.24282439 1 24282440 [G/C] JHU_1.24282661 1 24282662 [T/A] JHU_1.24283651 1 24283652 [T/C] JHU_1.24284705 1 24284706 [A/G] JHU_1.24285520 1 24285521 [T/G] rs17338135 1 24286897 [T/C] NM_017761 PNRC2 Silent JHU_1.24287260 1 24287261 [T/C] NM_017761 PNRC2 Silent JHU_1.24287876 1 24287877 [T/C] NM_017761 PNRC2 Silent JHU_1.24290126 1 24290127 [A/G] JHU_1.24293322 1 24293323 [A/C] NM_001191007,NR_034035,NM_001300937,NM_001191006,NM_054016,NM_001300936,NM_001191005,NM_001191009,NM_006625 SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.24296707 1 24296708 [A/G] NM_001191007,NR_034035,NM_001300937,NM_001191006,NM_054016,NM_001300936,NM_001191005,NM_001191009,NM_006625 SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.24300994 1 24300995 [T/C] NM_001191007,NR_034035,NM_001300937,NM_001191006,NM_054016,NM_001300936,NM_001191005,NM_001191009,NM_006625 SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.24301551 1 24301552 [A/G] NM_001191007,NR_034035,NM_001300937,NM_001191006,NM_054016,NM_001300936,NM_001191005,NM_001191009,NM_006625 SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10 EXON Synonymous_R62R,Silent,Synonymous_R62R,Synonymous_R62R,Synonymous_R62R,Synonymous_R62R,Synonymous_R62R,Synonymous_R62R,Synonymous_R62R JHU_1.24304190 1 24304191 [A/G] NM_001191007,NR_034035,NM_001300937,NM_001191006,NM_054016,NM_001300936,NM_001191005,NM_001191009,NM_006625 SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10,SRSF10 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.24307020 1 24307021 [A/C] JHU_1.24315382 1 24315383 [T/A] 1:23993344del147 1 24319835 [I/D] JHU_1.24323523 1 24323524 [A/G] JHU_1.24324942 1 24324943 [T/C] JHU_1.24325320 1 24325321 [T/C] JHU_1.24325515 1 24325516 [T/C] JHU_1.24327486 1 24327487 [A/G] JHU_1.24327645 1 24327646 [A/C] JHU_1.24327896 1 24327897 [T/G] JHU_1.24329467 1 24329468 [T/C] JHU_1.24331046 1 24331047 [T/A] JHU_1.24332119 1 24332120 [T/C] JHU_1.24333915 1 24333916 [A/G] JHU_1.24335797 1 24335798 [A/G] JHU_1.24336315 1 24336316 [T/C] JHU_1.24336629 1 24336630 [T/C] JHU_1.24338424 1 24338425 [A/T] JHU_1.24338586 1 24338587 [C/G] JHU_1.24338689 1 24338690 [A/C] JHU_1.24339155 1 24339156 [T/C] JHU_1.24340477 1 24340478 [T/C] JHU_1.24340653 1 24340654 [A/G] JHU_1.24340788 1 24340789 [T/C] JHU_1.24342735 1 24342736 [T/C] JHU_1.24342850 1 24342851 [T/C] JHU_1.24343341 1 24343342 [T/G] JHU_1.24343440 1 24343441 [A/C] JHU_1.24346919 1 24346920 [A/G] JHU_1.24347329 1 24347330 [A/T] JHU_1.24347941 1 24347942 [G/C] JHU_1.24348040 1 24348041 [T/C] JHU_1.24349271 1 24349272 [T/G] JHU_1.24350075 1 24350076 [T/A] JHU_1.24351948 1 24351949 [A/C] JHU_1.24352114 1 24352115 [A/C] JHU_1.24354724 1 24354725 [A/G] JHU_1.24356627 1 24356628 [T/C] JHU_1.24356634 1 24356635 [T/C] JHU_1.24359388 1 24359389 [T/A] rs6689056 1 24364531 [A/G] rs147537057 1 24371171 [T/C] rs12401982 1 24372971 [T/C] rs34069699 1 24373109 [T/C] exm31693 1 24383918 [A/G] NM_152372 MYOM3 EXON Missense_T1417M exm31697 1 24383958 [A/G] NM_152372 MYOM3 EXON Missense_R1404C exm31698 1 24383994 [T/C] NM_152372 MYOM3 EXON Missense_I1392V exm31699 1 24384031 [T/G] NM_152372 MYOM3 EXON Missense_D1379E exm31701 1 24384114 [T/G] NM_152372 MYOM3 EXON Missense_L1352M rs6693386 1 24385330 [T/C] NM_152372 MYOM3 Silent rs7549149 1 24385997 [T/G] NM_152372 MYOM3 Silent rs11811060 1 24388417 [A/G] NM_152372 MYOM3 Silent exm31716 1 24388465 [T/C] NM_152372 MYOM3 EXON Missense_R1302Q 1:24388502-TC 1 24388502 [T/C] NM_152372 MYOM3 EXON Missense_K1290E exm31722 1 24388564 [A/G] NM_152372 MYOM3 EXON Missense_T1269M exm31726 1 24388592 [A/G] NM_152372 MYOM3 EXON Missense_R1260C JHU_1.24388856 1 24388857 [A/G] NM_152372 MYOM3 Silent var_1_24389611 1 24389611 [T/C] NM_152372 MYOM3 Silent indel.1682 1 24389632 [I/D] NM_152372 MYOM3 EXON exm31731 1 24389694 [T/C] NM_152372 MYOM3 EXON Missense_G1231E exm1771420 1 24390000 [T/C] NM_152372 MYOM3 EXON Missense_E1215K 1:24390562-CT 1 24390562 [T/C] NM_152372 MYOM3 EXON Missense_A1208T exm1771422 1 24390604 [T/C] NM_152372 MYOM3 EXON Missense_D1194N var_1_24390612 1 24390613 [D/I] NM_152372 MYOM3 EXON rs41268127 1 24390717 [A/G] NM_152372 MYOM3 Silent rs4456048 1 24392063 [T/C] NM_152372 MYOM3 Silent 1:24392325-CT 1 24392325 [T/C] NM_152372 MYOM3 Silent 1:24392362-AC 1 24392362 [A/C] NM_152372 MYOM3 Silent 1:24392671-TC 1 24392671 [T/C] NM_152372 MYOM3 Silent rs10903077 1 24393282 [A/G] NM_152372 MYOM3 Silent 1:24393536-TC 1 24393536 [T/C] NM_152372 MYOM3 EXON Missense_D1133G exm31758 1 24393563 [T/C] NM_152372 MYOM3 EXON Missense_R1124Q exm31759 1 24393564 [A/G] NM_152372 MYOM3 EXON Missense_R1124W 1:24393580-TC 1 24393580 [T/C] NM_152372 MYOM3 Silent 1:24393584-CT 1 24393584 [T/C] NM_152372 MYOM3 Silent Variant37790 1 24393585 [A/G] NM_152372 MYOM3 Silent variant.1688 1 24394459 [T/C] NM_152372 MYOM3 Silent exm31765 1 24394714 [A/G] NM_152372 MYOM3 EXON Synonymous_D1098D exm31769 1 24394770 [T/C] NM_152372 MYOM3 EXON Missense_A1080T exm31770 1 24394811 [A/G] NM_152372 MYOM3 EXON Missense_I1066T exm31771 1 24394835 [C/G] NM_152372 MYOM3 EXON Missense_R1058P rs57584365 1 24395712 [G/C] NM_152372 MYOM3 Silent rs6656699 1 24396500 [T/C] NM_152372 MYOM3 Silent rs57625718 1 24396712 [A/G] NM_152372 MYOM3 Silent rs6675170 1 24400430 [A/T] NM_152372 MYOM3 Silent 1:24400689-CT 1 24400689 [T/C] NM_152372 MYOM3 EXON Missense_D977N chr1_24401830 1 24401830 [T/C] NM_152372 MYOM3 EXON Missense_K946R variant.1690 1 24401840 [A/G] NM_152372 MYOM3 EXON Nonsense_Q943X chr1_24401843 1 24401843 [T/G] NM_152372 MYOM3 EXON Missense_P942T 1:24401909-CT 1 24401909 [T/C] NM_152372 MYOM3 EXON Missense_E920K exm31797 1 24401926 [A/G] NM_152372 MYOM3 EXON Missense_F914S exm2250953 1 24401961 [C/G] NM_152372 MYOM3 EXON Synonymous_A902A 1:24402670-CT 1 24402670 [T/C] NM_152372 MYOM3 EXON Missense_V894M exm31802 1 24402675 [T/G] NM_152372 MYOM3 EXON Missense_D892A rs144967397 1 24404930 [A/G] NM_152372 MYOM3 Silent exm31811 1 24406535 [A/G] NM_152372 MYOM3 EXON Missense_P853S exm31815 1 24406608 [T/C] NM_152372 MYOM3 EXON Missense_M828I rs4649175 1 24406647 [A/G] NM_152372 MYOM3 EXON Synonymous_A815A exm-rs4649175 1 24406647 [A/G] NM_152372 MYOM3 EXON Synonymous_A815A exm31818 1 24406652 [A/G] NM_152372 MYOM3 EXON Missense_R814W exm31824 1 24407870 [A/G] NM_152372 MYOM3 EXON Missense_S786L exm31825 1 24407903 [T/C] NM_152372 MYOM3 EXON Missense_R775Q rs4313343 1 24408414 [T/C] NM_152372 MYOM3 Silent exm31831 1 24408594 [T/C] NM_152372 MYOM3 EXON Missense_R726H exm31833 1 24408598 [A/G] NM_152372 MYOM3 EXON Missense_R725C Variant12339 1 24408611 [D/I] NM_152372 MYOM3 EXON 1:24409158-CT 1 24409158 [T/C] NM_152372 MYOM3 EXON Missense_V673I exm31846 1 24409181 [G/C] NM_152372 MYOM3 EXON Missense_T665R exm31849 1 24409191 [T/C] NM_152372 MYOM3 EXON Missense_G662R 1:24409205-CT 1 24409205 [T/C] NM_152372 MYOM3 Silent 1:24410941-CT 1 24410941 [T/C] NM_152372 MYOM3 Silent 1:24411015-CT 1 24411015 [T/C] NM_152372 MYOM3 EXON Missense_R638Q 1:24411034-CT 1 24411034 [T/C] NM_152372 MYOM3 EXON Missense_G632S exm31856 1 24411054 [A/G] NM_152372 MYOM3 EXON Missense_V625A exm31857 1 24411058 [T/G] NM_152372 MYOM3 EXON Missense_P624T variant.1696 1 24411085 [A/G] NM_152372 MYOM3 EXON Nonsense_Q615X indel.1697 1 24411115 [I/D] NM_152372 MYOM3 EXON rs4276861 1 24412447 [T/C] NM_152372 MYOM3 Silent 1:24413146-GA 1 24413146 [A/G] NM_152372 MYOM3 EXON Missense_R596W 1:24413280-GA 1 24413280 [A/G] NM_152372 MYOM3 EXON Missense_S551L rs3923546 1 24414077 [T/C] NM_152372 MYOM3 Silent rs79421696 1 24414137 [T/G] NM_152372 MYOM3 Silent rs4649183 1 24415723 [T/G] NM_152372 MYOM3 Silent exm31876 1 24416059 [T/C] NM_152372 MYOM3 EXON Missense_D528G exm31877 1 24416062 [T/C] NM_152372 MYOM3 EXON Missense_R527Q exm1771510 1 24416104 [T/C] NM_152372 MYOM3 EXON Missense_R513Q exm31882 1 24416117 [T/C] NM_152372 MYOM3 EXON Missense_A509T newrs187599846 1 24416550 [T/C] NM_152372 MYOM3 Silent exm31889 1 24416564 [T/C] NM_152372 MYOM3 EXON Missense_A493T JHU_1.24416806 1 24416807 [T/C] NM_152372 MYOM3 Silent JHU_1.24416949 1 24416950 [A/G] NM_152372 MYOM3 Silent JHU_1.24417227 1 24417228 [T/C] NM_152372 MYOM3 Silent 1:24417299-GA 1 24417299 [A/G] NM_152372 MYOM3 EXON Missense_R474W exm31895 1 24417350 [T/C] NM_152372 MYOM3 EXON Missense_V457I 1:24417358-CT 1 24417358 [T/C] NM_152372 MYOM3 EXON Missense_G454D exm31899 1 24417383 [A/G] NM_152372 MYOM3 EXON Missense_R446W exm31900 1 24417388 [T/C] NM_152372 MYOM3 EXON Missense_R444Q exm31904 1 24417415 [T/C] NM_152372 MYOM3 EXON Missense_Q435R exm31905 1 24417419 [T/C] NM_152372 MYOM3 EXON Missense_I434V JHU_1.24417652 1 24417653 [A/G] NM_152372 MYOM3 Silent 1:24418664-CT 1 24418664 [T/C] NM_152372 MYOM3 EXON Missense_R411Q 1:24418757-CT 1 24418757 [T/C] NM_152372 MYOM3 EXON Missense_R380Q exm31922 1 24418758 [A/G] NM_152372 MYOM3 EXON Nonsense_R380X rs7556176 1 24418768 [T/C] NM_152372 MYOM3 EXON Synonymous_P376P exm31927 1 24418800 [T/C] NM_152372 MYOM3 EXON Missense_E366K exm31932 1 24419473 [T/C] NM_152372 MYOM3 EXON Missense_G352R exm31938 1 24419496 [A/G] NM_152372 MYOM3 EXON Missense_M344T exm31941 1 24419548 [C/G] NM_152372 MYOM3 EXON Missense_Q327E exm31942 1 24419556 [A/G] NM_152372 MYOM3 EXON Missense_T324I exm1771550 1 24419574 [T/C] NM_152372 MYOM3 EXON Missense_R318H exm31948 1 24421387 [A/G] NM_152372 MYOM3 EXON Missense_S295L exm31949 1 24421405 [G/C] NM_152372 MYOM3 EXON Missense_S289C exm31954 1 24421474 [A/G] NM_152372 MYOM3 EXON Missense_T266M 1:24421941-TC 1 24421941 [T/C] NM_152372 MYOM3 EXON Missense_I261V exm31956 1 24421950 [C/G] NM_152372 MYOM3 EXON Missense_D258H rs3885698 1 24424241 [T/C] NM_152372 MYOM3 Silent exm31960 1 24424416 [A/G] NM_152372 MYOM3 EXON Missense_R248C 1:24426228-GA 1 24426228 [A/G] NM_152372 MYOM3 EXON Missense_R200C exm31968 1 24426249 [A/G] NM_152372 MYOM3 EXON Missense_R193W JHU_1.24431533 1 24431534 [T/C] NM_152372 MYOM3 Silent rs3934861 1 24431956 [A/G] NM_152372 MYOM3 Silent 1:24432416-AG 1 24432416 [A/G] NM_152372 MYOM3 EXON Missense_V185A 1:24432477-CT 1 24432477 [T/C] NM_152372 MYOM3 EXON Missense_V165I 1:24432515-CT 1 24432515 [T/C] NM_152372 MYOM3 EXON Missense_R152H exm31978 1 24432519 [T/C] NM_152372 MYOM3 EXON Missense_G151S exm31981 1 24432540 [A/C] NM_152372 MYOM3 EXON Nonsense_E144X exm1771595 1 24433570 [G/C] NM_152372 MYOM3 EXON Missense_R132T exm2232908 1 24433576 [A/G] NM_152372 MYOM3 EXON Missense_T130M 1:24433616-GA 1 24433616 [A/G] NM_152372 MYOM3 EXON Nonsense_Q117X exm31990 1 24433652 [T/C] NM_152372 MYOM3 EXON Missense_G105S exm31995 1 24433697 [A/T] NM_152372 MYOM3 EXON Missense_S90T 1:24433705-CT 1 24433705 [T/C] NM_152372 MYOM3 EXON Missense_R87H exm2232909 1 24433706 [A/G] NM_152372 MYOM3 EXON Missense_R87C rs139526319 1 24434355 [T/C] NM_152372 MYOM3 Silent chr1_24434486 1 24434486 [A/G] NM_152372 MYOM3 EXON Missense_S80F exm32000 1 24434510 [A/G] NM_152372 MYOM3 EXON Missense_A72V exm32001 1 24434519 [C/G] NM_152372 MYOM3 EXON Missense_A69G exm32003 1 24434537 [T/G] NM_152372 MYOM3 EXON Missense_A63E exm32007 1 24434559 [T/C] NM_152372 MYOM3 EXON Missense_E56K exm32008 1 24434562 [T/C] NM_152372 MYOM3 EXON Missense_E55K rs11249170 1 24434595 [T/C] NM_152372 MYOM3 Silent 1:24435087-GA 1 24435087 [A/G] NM_152372 MYOM3 EXON Missense_R14W 1:24435116-GA 1 24435116 [A/G] NM_152372 MYOM3 EXON Missense_P4L JHU_1.24436434 1 24436435 [A/G] NM_152372 MYOM3 Silent rs79521226 1 24437479 [A/C] NM_152372 MYOM3 Silent JHU_1.24438246 1 24438247 [T/G] NM_152372 MYOM3 Silent rs6686007 1 24442907 [T/C] rs11810347 1 24443147 [T/G] rs183803695 1 24444327 [T/G] JHU_1.24445744 1 24445745 [A/G] rs77639105 1 24446164 [A/G] rs114774887 1 24446885 [T/C] NM_021258 IL22RA1 EXON Silent exm32025 1 24447468 [C/G] NM_021258 IL22RA1 EXON Missense_R518G 1:24447534-GT 1 24447534 [T/G] NM_021258 IL22RA1 EXON Missense_L496I exm1771625 1 24447657 [T/C] NM_021258 IL22RA1 EXON Missense_M455V exm32035 1 24447707 [T/C] NM_021258 IL22RA1 EXON Missense_G438E exm1771626 1 24447716 [C/G] NM_021258 IL22RA1 EXON Missense_P435R exm32039 1 24447801 [T/C] NM_021258 IL22RA1 EXON Missense_M407V 1:24447840-CA 1 24447840 [A/C] NM_021258 IL22RA1 EXON Missense_A394S exm32044 1 24447867 [T/C] NM_021258 IL22RA1 EXON Missense_V385I 1:24447909-CT 1 24447909 [T/C] NM_021258 IL22RA1 EXON Missense_E371K exm32063 1 24448149 [T/C] NM_021258 IL22RA1 EXON Missense_G291S 1:24448193-CT 1 24448193 [T/C] NM_021258 IL22RA1 EXON Missense_R276H 1:24448217-CT 1 24448217 [T/C] NM_021258 IL22RA1 EXON Missense_R268Q exm32070 1 24448224 [T/C] NM_021258 IL22RA1 EXON Missense_V266I rs12070496 1 24449684 [G/C] NM_021258 IL22RA1 Silent exm32074 1 24449814 [A/G] NM_021258 IL22RA1 EXON Missense_P257L exm32076 1 24449854 [T/C] NM_021258 IL22RA1 EXON Missense_A244T 1:24449866-CT 1 24449866 [T/C] NM_021258 IL22RA1 EXON Missense_G240S 1:24449887-CT 1 24449887 [T/C] NM_021258 IL22RA1 EXON Missense_G233R rs55834972 1 24451235 [T/C] NM_021258 IL22RA1 Silent rs11578307 1 24452763 [A/G] NM_021258 IL22RA1 Silent exm32081 1 24454636 [A/G] NM_021258 IL22RA1 EXON Missense_L222P exm32083 1 24454676 [A/C] NM_021258 IL22RA1 EXON Missense_A209S rs16829204 1 24454688 [T/C] NM_021258 IL22RA1 EXON Missense_V205I JHU_1.24458298 1 24458299 [T/C] NM_021258 IL22RA1 Silent rs4649187 1 24458479 [T/A] NM_021258 IL22RA1 Silent exm32089 1 24460721 [A/C] NM_021258 IL22RA1 EXON Missense_V171F 1:24460763-CT 1 24460763 [T/C] NM_021258 IL22RA1 EXON Missense_E157K exm32095 1 24460844 [A/G] NM_021258 IL22RA1 EXON Missense_S130P exm32097 1 24460847 [T/C] NM_021258 IL22RA1 EXON Missense_I129V JHU_1.24463403 1 24463404 [T/G] NM_021258 IL22RA1 Silent exm32102 1 24463705 [A/G] NM_021258 IL22RA1 EXON Missense_L91F exm32106 1 24463737 [T/C] NM_021258 IL22RA1 EXON Missense_N80S exm32109 1 24463758 [T/C] NM_021258 IL22RA1 EXON Missense_R73Q rs75032062 1 24464592 [A/C] NM_021258 IL22RA1 Silent chr1_24465166 1 24465166 [T/C] NM_021258 IL22RA1 EXON Missense_V28M exm32119 1 24465199 [G/C] NM_021258 IL22RA1 EXON Missense_A17P rs10794642 1 24465309 [T/C] NM_021258 IL22RA1 Silent 1:24469538-GA 1 24469538 [A/G] NM_021258 IL22RA1 EXON Missense_S12F JHU_1.24470966 1 24470967 [T/C] JHU_1.24470993 1 24470994 [T/C] rs4448470 1 24471200 [T/C] rs149121165 1 24472033 [A/G] JHU_1.24472153 1 24472154 [T/A] rs4648940 1 24475177 [T/C] rs11579657 1 24476886 [A/G] rs4649191 1 24479274 [T/C] JHU_1.24482260 1 24482261 [G/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Silent,Silent,Silent rs77396647 1 24483236 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Silent,Silent,Silent 1:24483736-TC-T 1 24483736 [D/I] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON exm32136 1 24483832 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_W451R,Silent,Missense_W422R 1:24483906-GA 1 24483906 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_P426L,Silent,Missense_P397L 1:24483930-CT 1 24483930 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_G418E,Silent,Missense_G389E exm32146 1 24484108 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_H359Y,Silent,Missense_H330Y exm32148 1 24484171 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_V338I,Silent,Missense_V309I exm32149 1 24484195 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_D330N,Silent,Missense_D301N exm32152 1 24484220 [T/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_D321E,Silent,Missense_D292E 1:24484231-AG 1 24484231 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_W318R,Silent,Missense_W289R 1:24484340-GA 1 24484340 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Synonymous_P281P,Nonsense_Q238X,Silent exm32157 1 24484365 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_T273I,Synonymous_H229H,Silent rs78158201 1 24484404 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent exm32161 1 24485564 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_R260Q,Silent,Missense_R260Q Variant37794 1 24485597 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Nonsense_W249X,Silent,Nonsense_W249X rs4649195 1 24485941 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent JHU_1.24486472 1 24486473 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs77419630 1 24487538 [C/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent exm32177 1 24488093 [G/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_C150S,Missense_C150S,Missense_C150S rs7552086 1 24488450 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent JHU_1.24490072 1 24490073 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent JHU_1.24494567 1 24494568 [A/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent JHU_1.24494905 1 24494906 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent JHU_1.24495174 1 24495175 [A/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs74480198 1 24495788 [T/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent exm2250960 1 24495968 [A/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Synonymous_T102T,Synonymous_T102T,Synonymous_T102T exm32185 1 24495990 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_K95R,Missense_K95R,Missense_K95R exm32187 1 24496050 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_A75V,Missense_A75V,Missense_A75V JHU_1.24496568 1 24496569 [A/T] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs7520329 1 24498911 [A/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent JHU_1.24505395 1 24505396 [A/T] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs3893318 1 24505944 [T/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs3897440 1 24506861 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent 1:24507335-CT 1 24507335 [T/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 EXON Missense_R23H,Missense_R23H,Missense_R23H rs7524076 1 24508710 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent JHU_1.24508817 1 24508818 [T/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent JHU_1.24509434 1 24509435 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs77360595 1 24510575 [A/C] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs72650424 1 24510905 [A/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs3932664 1 24511663 [T/G] NM_170743,NM_173065,NM_173064 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs1538633 1 24516690 [A/G] rs11587500 1 24516880 [A/G] rs10794648 1 24518206 [T/C] rs78784313 1 24518556 [T/C] rs7552167 1 24518643 [A/G] exm-rs4649203 1 24519920 [A/G] JHU_1.24524314 1 24524315 [A/C] rs61772905 1 24524561 [A/G] JHU_1.24526224 1 24526225 [T/C] JHU_1.24526339 1 24526340 [T/C] exm-rs11249024 1 24527095 [T/C] NR_027087 LOC284632 Silent JHU_1.24527094 1 24527095 [T/C] NR_027087 LOC284632 Silent rs16860735 1 24527816 [T/C] NR_027087 LOC284632 Silent JHU_1.24528209 1 24528210 [T/C] NR_027087 LOC284632 Silent JHU_1.24528297 1 24528298 [T/A] NR_027087 LOC284632 Silent JHU_1.24528574 1 24528575 [A/G] NR_027087 LOC284632 Silent JHU_1.24530399 1 24530400 [A/G] NR_027087 LOC284632 Silent rs946662 1 24531634 [A/C] NR_027087 LOC284632 Silent rs149890860 1 24533122 [T/C] NR_027087 LOC284632 Silent rs12061941 1 24535178 [T/C] NR_027087 LOC284632 Silent rs4649207 1 24536742 [T/C] NR_027087 LOC284632 EXON Silent rs149488425 1 24539239 [T/C] JHU_1.24539588 1 24539589 [A/G] rs6682700 1 24543710 [T/A] JHU_1.24544749 1 24544750 [T/C] JHU_1.24544799 1 24544800 [T/C] rs2211167 1 24551216 [C/G] rs143602583 1 24552434 [T/C] JHU_1.24552721 1 24552722 [T/C] JHU_1.24556586 1 24556587 [T/C] rs141922207 1 24557113 [T/G] rs11249045 1 24557760 [T/C] exm2264809 1 24564127 [A/G] rs12131684 1 24567435 [T/C] rs72874851 1 24571507 [A/C] rs7517309 1 24572806 [A/G] JHU_1.24576313 1 24576314 [A/C] rs12407356 1 24578011 [A/G] rs6685396 1 24578911 [A/C] rs79010567 1 24579760 [T/C] rs11249058 1 24583452 [A/G] rs79451341 1 24584103 [A/G] rs6670533 1 24584490 [A/G] rs79198779 1 24586089 [A/G] rs71640832 1 24587703 [A/C] rs10794655 1 24588557 [T/A] rs75590339 1 24593461 [A/G] rs7535789 1 24607419 [T/C] rs72650498 1 24609472 [A/C] rs117519342 1 24610037 [A/G] rs12070291 1 24610941 [T/C] rs115221332 1 24613191 [C/G] rs4648960 1 24618605 [T/G] JHU_1.24619460 1 24619461 [A/G] JHU_1.24619484 1 24619485 [T/G] rs12405071 1 24620801 [A/G] JHU_1.24621848 1 24621849 [A/G] rs4648967 1 24624870 [A/G] rs4641259 1 24625549 [T/G] JHU_1.24627362 1 24627363 [T/C] JHU_1.24630358 1 24630359 [A/G] rs527160 1 24636150 [T/C] rs672511 1 24636835 [T/C] JHU_1.24639931 1 24639932 [C/G] rs621535 1 24640314 [A/G] JHU_1.24641018 1 24641019 [T/C] JHU_1.24641092 1 24641093 [T/C] rs12045977 1 24641759 [A/G] rs74062137 1 24643007 [A/G] rs2248219 1 24645356 [A/G] JHU_1.24648123 1 24648124 [T/C] NM_198173,NM_198174,NM_001195010 GRHL3,GRHL3,GRHL3 Silent,Silent,Silent rs11249089 1 24652947 [A/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent rs483202 1 24653792 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent rs75112116 1 24657533 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent rs2486669 1 24657860 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent exm32205 1 24657930 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R11Q,Missense_R11Q,Silent,Missense_R16Q exm32214 1 24658063 [C/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_D55E,Missense_D55E,Missense_D9E,Missense_D60E 1:24658071-CT 1 24658071 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_A58V,Missense_A58V,Missense_A12V,Missense_A63V rs79446503 1 24661432 [A/T] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent JHU_1.24661581 1 24661582 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent JHU_1.24662902 1 24662903 [C/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent rs186914295 1 24663054 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_V117M,Missense_V117M,Missense_V71M,Missense_V122M 1:24663118-CT 1 24663118 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_A138V,Missense_A138V,Missense_A92V,Missense_A143V exm32229 1 24663150 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_P149S,Missense_P149S,Missense_P103S,Missense_P154S exm32232 1 24663184 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_V160A,Missense_V160A,Missense_V114A,Missense_V165A rs200674358 1 24663276 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R191C,Missense_R191C,Missense_R145C,Missense_R196C exm32238 1 24663277 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R191H,Missense_R191H,Missense_R145H,Missense_R196H exm32242 1 24663569 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_S205L,Missense_S205L,Missense_S159L,Missense_S210L rs150142672 1 24664191 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_A251V,Missense_A251V,Missense_A205V,Missense_A256V exm32253 1 24664220 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_V261I,Missense_V261I,Missense_V215I,Missense_V266I exm32254 1 24664239 [G/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_A267G,Missense_A267G,Missense_A221G,Missense_A272G Variant48208 1 24664534 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R298H,Missense_R298H,Missense_R252H,Missense_R303H JHU_1.24665770 1 24665771 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent 1:24666235-GA 1 24666235 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_V344M,Missense_V344M,Missense_V298M,Missense_V349M rs139441205 1 24666686 [A/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent rs12568599 1 24667300 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent exm32273 1 24668716 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R387C,Missense_R387C,Missense_R341C,Missense_R392C rs147284380 1 24668716 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R387C,Missense_R387C,Missense_R341C,Missense_R392C 1:24669420-GA 1 24669420 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_E442K,Missense_E442K,Missense_E396K,Missense_E447K exm32288 1 24669457 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_T454M,Missense_T454M,Missense_T408M,Missense_T459M exm32291 1 24669481 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_N462S,Missense_N462S,Missense_N416S,Missense_N467S exm32293 1 24669515 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Synonymous_G473G,Synonymous_G473G,Synonymous_G427G,Synonymous_G478G rs4648975 1 24670264 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent rs12064986 1 24670429 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent exm32295 1 24671397 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_S477L,Missense_S477L,Missense_S431L,Missense_S482L exm32297 1 24671406 [A/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_P480H,Missense_P480H,Missense_P434H,Missense_P485H exm32299 1 24671418 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_N484S,Missense_N484S,Missense_N438S,Missense_N489S 1:24345091_24345092ins 1 24671581 [I/D] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 JHU_1.24672578 1 24672579 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent exm32304 1 24673057 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R490H,Missense_R490H,Missense_R444H,Missense_R495H rs138381915 1 24673057 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R490H,Missense_R490H,Missense_R444H,Missense_R495H exm32307 1 24673119 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_D511N,Missense_D511N,Missense_D465N,Missense_D516N chr1_24673122 1 24673122 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_L512F,Missense_L512F,Missense_L466F,Missense_L517F Variant48209 1 24676579 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_N554S,Missense_N554S,Missense_N508S,Missense_N559S rs77355370 1 24677220 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent rs4648860 1 24678272 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent rs58054176 1 24679470 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent rs76904385 1 24680276 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent exm32310 1 24680910 [T/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_H581Y,Silent,Missense_H535Y,Missense_H586Y 1:24680947-GA 1 24680947 [A/G] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_G593D,Silent,Missense_G547D,Missense_G598D seq-rs797044857 1 24680964 [G/C] NM_198173,NM_198174,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_L599V,Silent,Missense_L553V,Missense_L604V rs56095151 1 24684101 [T/C] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Silent,Silent,Silent rs7527465 1 24684116 [A/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Silent,Silent,Silent rs148728935 1 24684201 [A/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Silent,Silent,Silent 1:24684823-GA 1 24684823 [A/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Silent,Silent,Silent 1:24684895-GA 1 24684895 [A/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Silent,Silent,Silent 1:24685038-GA 1 24685038 [A/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Synonymous_L287L,Synonymous_L242L,Synonymous_L334L,Synonymous_L334L var_1_24685063 1 24685063 [A/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Synonymous_N278N,Synonymous_N233N,Synonymous_N325N,Synonymous_N325N exm32319 1 24687343 [C/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_P262R,Missense_P217R,Missense_P309R,Missense_P309R exm32324 1 24687371 [T/C] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_A253T,Missense_A208T,Missense_A300T,Missense_A300T 1:24687421-TC 1 24687421 [T/C] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_H236R,Missense_H191R,Missense_H283R,Missense_H283R indel.1723 1 24687425 [I/D] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON exm32331 1 24687441 [C/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_D229E,Missense_D184E,Missense_D276E,Missense_D276E 1:24687455-TACTG-T 1 24687455 [I/D] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON rs532147 1 24687653 [T/C] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent,Silent exm32334 1 24690676 [A/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Missense_E566K,Silent,Silent,Silent,Silent 1:24690698-GA 1 24690698 [A/G] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Missense_R573H,Silent,Silent,Silent,Silent exm32337 1 24690764 [A/T] NM_198174,NM_178122,NM_001199014,NM_001199013,NM_001199012 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Missense_M595K,Silent,Silent,Silent,Silent rs12130614 1 24691546 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent JHU_1.24692282 1 24692283 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent rs7535482 1 24695114 [A/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent 1:24695871-GA 1 24695871 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm32347 1 24696293 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_S156L,Missense_S111L,Missense_S203L,Missense_S203L rs11249095 1 24700642 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent rs72652541 1 24701515 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent rs58533416 1 24704150 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent JHU_1.24705553 1 24705554 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent 1:24706108-GA 1 24706108 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent newrs149733917 1 24706142 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm32357 1 24706144 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_N107S,Missense_N62S,Missense_N154S,Missense_N154S exm32364 1 24706274 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_A64T,Missense_A19T,Missense_A111T,Missense_A111T exm32365 1 24706292 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_I58V,Missense_I13V,Missense_I105V,Missense_I105V variant.1727 1 24706307 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Nonsense_R53X,Nonsense_R8X,Nonsense_R100X,Nonsense_R100X rs3765431 1 24706410 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent JHU_1.24709698 1 24709699 [G/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent variant.1728 1 24710352 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm32374 1 24710405 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_M46T,Missense_M1T,Missense_M93T,Missense_M93T exm32377 1 24710465 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_N26S,Silent,Missense_N73S,Missense_N73S exm32379 1 24710487 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Missense_I19V,Silent,Missense_I66V,Missense_I66V rs115858747 1 24711479 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent rs114198291 1 24711924 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent rs140486055 1 24714600 [A/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent rs74060330 1 24715153 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent rs77317573 1 24716050 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent rs78739685 1 24717654 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm2250982 1 24718075 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Synonymous_Q55Q,Synonymous_Q55Q exm32381 1 24718079 [A/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Missense_S54I,Missense_S54I 1:24718089-CA 1 24718089 [A/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Nonsense_G51X,Nonsense_G51X chr1_24718106 1 24718106 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Missense_P45L,Missense_P45L JHU_1.24720864 1 24720865 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent variant.1729 1 24727815 [T/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 EXON Nonsense_Y14X,Silent,Missense_Q22K,Missense_Q22K rs80177004 1 24730871 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent rs576096 1 24734386 [A/G] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent JHU_1.24735392 1 24735393 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent rs6696136 1 24738842 [T/C] NM_178122,NM_001199014,NM_001199013,NM_001199012 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent JHU_1.24742797 1 24742798 [C/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent Variant37798 1 24746127 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Synonymous_Y30Y,Silent,Silent,Synonymous_Y30Y,Silent,Silent,Silent,Synonymous_Y30Y,Synonymous_Y30Y,Synonymous_Y30Y,Silent,Silent,Silent,Silent,Synonymous_Y30Y,Silent,Silent,Synonymous_Y30Y,Synonymous_Y30Y rs6670829 1 24751920 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116221420 1 24759213 [T/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1008485 1 24764689 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11580949 1 24765113 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs188498351 1 24766353 [T/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm32403 1 24768603 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_K74R,Silent,Silent,Missense_K74R,Silent,Silent,Silent,Missense_K74R,Missense_K74R,Missense_K74R,Silent,Missense_K73R,Missense_K65R,Silent,Missense_K74R,Silent,Silent,Missense_K74R,Missense_K74R exm32406 1 24768665 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_A95T,Silent,Silent,Missense_A95T,Silent,Silent,Missense_A13T,Missense_A95T,Missense_A95T,Missense_A95T,Silent,Missense_A94T,Missense_A86T,Silent,Missense_A95T,Silent,Missense_A13T,Missense_A95T,Missense_A95T exm32409 1 24768686 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_I102V,Silent,Silent,Missense_I102V,Silent,Silent,Missense_I20V,Missense_I102V,Missense_I102V,Missense_I102V,Silent,Missense_I101V,Missense_I93V,Silent,Missense_I102V,Silent,Missense_I20V,Missense_I102V,Missense_I102V rs6697537 1 24769759 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4648988 1 24775000 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm32418 1 24776000 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_G142S,Silent,Silent,Missense_G142S,Silent,Silent,Missense_G60S,Missense_G142S,Missense_G142S,Missense_G142S,Silent,Missense_G141S,Missense_G133S,Silent,Missense_G142S,Silent,Missense_G60S,Missense_G142S,Missense_G142S exm32420 1 24776012 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_V146M,Silent,Silent,Missense_V146M,Silent,Silent,Missense_V64M,Missense_V146M,Missense_V146M,Missense_V146M,Silent,Missense_V145M,Missense_V137M,Silent,Missense_V146M,Silent,Missense_V64M,Missense_V146M,Missense_V146M 1:24779928-CT 1 24779928 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_L191F,Silent,Silent,Missense_L191F,Missense_L30F,Silent,Missense_L109F,Missense_L191F,Missense_L191F,Missense_L191F,Missense_L30F,Missense_L190F,Missense_L182F,Missense_L30F,Missense_L191F,Missense_L30F,Missense_L109F,Missense_L191F,Missense_L191F rs11808194 1 24780927 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2281188 1 24781247 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322865,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm32439 1 24782681 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_I231V,Silent,Silent,Missense_I70V,Silent,Missense_I149V,Missense_I231V,Missense_I231V,Missense_I231V,Missense_I70V,Missense_I230V,Missense_I222V,Missense_I70V,Missense_I231V,Missense_I70V,Missense_I149V,Missense_I231V,Missense_I231V exm32447 1 24782763 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_A258V,Silent,Silent,Missense_A97V,Silent,Missense_A176V,Missense_A258V,Missense_A258V,Missense_A258V,Missense_A97V,Missense_A257V,Missense_A249V,Missense_A97V,Missense_A258V,Missense_A97V,Missense_A176V,Missense_A258V,Missense_A258V 1:24784286-AG 1 24784286 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.1732 1 24784312 [D/I] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 variant.1733 1 24784323 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2272935 1 24785393 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Synonymous_A263A,Silent,Silent,Synonymous_A102A,Silent,Synonymous_A181A,Synonymous_A263A,Silent,Synonymous_A263A,Synonymous_A102A,Synonymous_A262A,Synonymous_A254A,Synonymous_A102A,Synonymous_A263A,Synonymous_A102A,Synonymous_A181A,Synonymous_A263A,Synonymous_A263A newrs151305924 1 24785405 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Synonymous_Y267Y,Silent,Silent,Synonymous_Y106Y,Silent,Synonymous_Y185Y,Synonymous_Y267Y,Silent,Synonymous_Y267Y,Synonymous_Y106Y,Synonymous_Y266Y,Synonymous_Y258Y,Synonymous_Y106Y,Synonymous_Y267Y,Synonymous_Y106Y,Synonymous_Y185Y,Synonymous_Y267Y,Synonymous_Y267Y 1:24790584-CA 1 24790584 [A/C] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Missense_P332H,Silent,Silent,Missense_P171H,Silent,Missense_P250H,Missense_P332H,Missense_P281H,Missense_P332H,Missense_P171H,Missense_P331H,Missense_P323H,Missense_P171H,Missense_P332H,Missense_P171H,Missense_P250H,Missense_P332H,Missense_P332H JHU_1.24791916 1 24791917 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001330409,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs195726 1 24793346 [C/G] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs35913793 1 24796069 [A/C] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.24798435 1 24798436 [A/G] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.24798749 1 24798750 [T/C] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs15441 1 24799045 [A/T] NM_001322854,NR_136507,NR_136508,NM_001322861,NR_136506,NM_001322863,NM_001322855,NM_001322868,NM_001322856,NM_001322858,NM_001322864,NM_001322866,NM_001322859,NM_001322860,NM_001322862,NM_020448,NM_001322857 NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3,NIPAL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.24800090 1 24800091 [A/G] rs74748732 1 24800382 [A/G] JHU_1.24802971 1 24802972 [A/G] JHU_1.24803384 1 24803385 [T/C] rs2481929 1 24807579 [T/G] rs195704 1 24813155 [T/C] rs12064694 1 24815870 [A/G] rs75771488 1 24818438 [T/C] rs195712 1 24818499 [T/C] exm2260076 1 24822500 [T/C] rs7540336 1 24832734 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent rs79255105 1 24839187 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm32472 1 24840882 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Silent,Missense_K7R,Missense_K7R,Missense_K7R,Missense_K7R,Silent,Missense_K7R,Missense_K7R,Missense_K7R,Missense_K7R variant.1735 1 24841046 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Silent,Nonsense_R62X,Nonsense_R62X,Nonsense_R62X,Nonsense_R62X,Silent,Nonsense_R62X,Nonsense_R62X,Nonsense_R62X,Nonsense_R62X rs72884416 1 24849053 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9424380 1 24849240 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.24851199 1 24851200 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9424327 1 24851514 [T/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.24854757 1 24854758 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.24856499 1 24856500 [A/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs185511 1 24857086 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent chr1_24857744 1 24857744 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Silent,Nonsense_Q78X,Nonsense_Q78X,Nonsense_Q78X,Silent,Silent,Nonsense_Q78X,Nonsense_Q78X,Silent,Nonsense_Q78X JHU_1.24858081 1 24858082 [T/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76058913 1 24860602 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76887930 1 24861335 [A/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:24861617-GA 1 24861617 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Synonymous_S67S,Synonymous_S192S,Synonymous_S192S,Synonymous_S192S,Synonymous_S134S,Synonymous_S67S,Synonymous_S192S,Synonymous_S182S,Missense_R77Q,Missense_R135Q 1:24861638-TC 1 24861638 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Synonymous_H74H,Synonymous_H199H,Synonymous_H199H,Synonymous_H199H,Synonymous_H141H,Synonymous_H74H,Synonymous_H199H,Synonymous_H189H,Missense_M84T,Missense_M142T exm32494 1 24861697 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_A94V,Missense_A219V,Missense_A219V,Missense_A219V,Missense_A161V,Missense_A94V,Missense_A219V,Missense_A209V,Missense_P104S,Missense_P162S indel.1738 1 24861697 [D/I] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON rs196432 1 24861704 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Synonymous_T96T,Synonymous_T221T,Synonymous_T221T,Synonymous_T221T,Synonymous_T163T,Synonymous_T96T,Synonymous_T221T,Synonymous_T211T,Missense_R106Q,Missense_R164Q exm2232995 1 24861714 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_D100N,Missense_D225N,Missense_D225N,Missense_D225N,Missense_D167N,Missense_D100N,Missense_D225N,Missense_D215N,Synonymous_P109P,Synonymous_P167P chr1_24861730 1 24861730 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_A105V,Missense_A230V,Missense_A230V,Missense_A230V,Missense_A172V,Missense_A105V,Missense_A230V,Missense_A220V,Missense_R115C,Missense_R173C 1:24861748-CA 1 24861748 [A/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_T111N,Missense_T236N,Missense_T236N,Missense_T236N,Missense_T178N,Missense_T111N,Missense_T236N,Missense_T226N,Silent,Silent chr1_24861759 1 24861759 [A/G] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_A115T,Missense_A240T,Missense_A240T,Missense_A240T,Missense_A182T,Missense_A115T,Missense_A240T,Missense_A230T,Silent,Silent rs11231 1 24863285 [T/C] NM_001251984,NM_001251979,NM_013441,NM_001251977,NM_001251981,NM_001251983,NM_001251978,NM_001251980,NM_001251985,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7540973 1 24864576 [T/G] rs147127733 1 24866937 [T/G] NR_109781 LOC100506985 Silent JHU_1.24873674 1 24873675 [T/G] NR_109781 LOC100506985 Silent rs12095513 1 24873860 [A/G] NR_109781 LOC100506985 Silent rs2809964 1 24875490 [T/C] NR_109781 LOC100506985 Silent rs2776747 1 24876383 [T/C] NR_109781 LOC100506985 Silent rs12065278 1 24877458 [A/G] NR_109781 LOC100506985 Silent JHU_1.24878450 1 24878451 [A/G] NR_109781 LOC100506985 EXON Silent rs6424099 1 24881126 [T/C] NR_109781 LOC100506985 Silent rs6689331 1 24882421 [T/C] NR_109781 LOC100506985 EXON Silent rs114838654 1 24884330 [A/C] NM_001010980 NCMAP Silent rs74353914 1 24884404 [T/C] NM_001010980 NCMAP Silent rs3893315 1 24884460 [A/G] NM_001010980 NCMAP Silent rs188409337 1 24884461 [T/C] NM_001010980 NCMAP Silent JHU_1.24885850 1 24885851 [A/C] NM_001010980 NCMAP Silent rs145838965 1 24886779 [T/G] NM_001010980 NCMAP Silent rs12122463 1 24886818 [A/G] NM_001010980 NCMAP Silent rs4610948 1 24888585 [T/C] NM_001010980 NCMAP Silent rs66623923 1 24894221 [T/C] NM_001010980 NCMAP Silent rs1929301 1 24894997 [A/G] NM_001010980 NCMAP Silent JHU_1.24895516 1 24895517 [T/G] NM_001010980 NCMAP Silent rs6424106 1 24898453 [T/C] NM_001010980 NCMAP Silent rs4648998 1 24901121 [A/C] NM_001010980 NCMAP Silent JHU_1.24902025 1 24902026 [A/T] NM_001010980 NCMAP Silent JHU_1.24904959 1 24904960 [A/G] NM_001010980 NCMAP Silent rs112071356 1 24905239 [C/G] NM_001010980 NCMAP Silent rs4000266 1 24906711 [A/G] NM_001010980 NCMAP Silent rs116873423 1 24906925 [T/C] NM_001010980 NCMAP Silent rs6660403 1 24908619 [T/G] NM_001010980 NCMAP Silent rs10158545 1 24909403 [T/C] NM_001010980 NCMAP Silent rs11249138 1 24910319 [T/C] NM_001010980 NCMAP Silent rs184244545 1 24910794 [A/G] NM_001010980 NCMAP Silent JHU_1.24911481 1 24911482 [A/G] NM_001010980 NCMAP Silent rs7556089 1 24912080 [T/G] NM_001010980 NCMAP Silent rs76612687 1 24912710 [A/G] NM_001010980 NCMAP Silent rs12138676 1 24912884 [A/G] NM_001010980 NCMAP Silent JHU_1.24915780 1 24915781 [C/G] NM_001010980 NCMAP Silent JHU_1.24917542 1 24917543 [A/G] NM_001010980 NCMAP Silent rs12749572 1 24919123 [A/T] NM_001010980 NCMAP Silent JHU_1.24920228 1 24920229 [A/G] NM_001010980 NCMAP Silent rs137889507 1 24921732 [A/G] NM_001010980 NCMAP Silent exm32503 1 24922000 [A/G] NM_001010980 NCMAP EXON Missense_K27E rs10903095 1 24922129 [A/G] NM_001010980 NCMAP Silent rs115541043 1 24923418 [A/G] NM_001010980 NCMAP Silent rs4425931 1 24927001 [T/G] NM_001010980 NCMAP Silent rs117081131 1 24927398 [T/C] NM_001010980 NCMAP Silent exm32505 1 24927446 [T/C] NM_001010980 NCMAP EXON Missense_V33A exm32506 1 24927454 [A/G] NM_001010980 NCMAP EXON Missense_V36I rs4649002 1 24929676 [A/G] NM_001010980 NCMAP Silent JHU_1.24929721 1 24929722 [A/G] NM_001010980 NCMAP Silent 1:24932210-CT 1 24932210 [T/C] NM_001010980 NCMAP EXON Missense_P94L exm32517 1 24932223 [C/G] NM_001010980 NCMAP EXON Missense_Q98H exm32518 1 24932231 [T/C] NM_001010980 NCMAP EXON Missense_T101M 1:24932233-CT 1 24932233 [T/C] NM_001010980 NCMAP EXON Nonsense_R102X rs11249141 1 24932733 [A/G] NM_001010980 NCMAP EXON Silent JHU_1.24933038 1 24933039 [G/C] NM_001010980 NCMAP EXON Silent JHU_1.24934761 1 24934762 [C/G] NM_001010980 NCMAP EXON Silent rs12062985 1 24937258 [T/C] rs144102493 1 24943673 [A/G] rs4649005 1 24947948 [T/C] rs12239628 1 24950917 [T/G] JHU_1.24954777 1 24954778 [T/A] rs4648870 1 24955492 [T/C] rs12085979 1 24962221 [A/C] JHU_1.24962556 1 24962557 [G/C] rs12087614 1 24963647 [A/G] rs118008605 1 24965173 [A/G] JHU_1.24967081 1 24967082 [C/G] exm32537 1 24976486 [A/G] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_M144V,Missense_M144V,Missense_M105V exm32543 1 24977982 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_R202C,Missense_R202C,Missense_R163C 1:24977983-GA 1 24977983 [A/G] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_R202H,Missense_R202H,Missense_R163H exm32558 1 24979423 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_R314W,Missense_R314W,Missense_R275W exm32561 1 24979487 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_P335L,Missense_P335L,Missense_P296L 1:24981350-AC 1 24981350 [A/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Synonymous_R349R,Synonymous_R349R,Synonymous_R310R 1:24981397-AC 1 24981397 [A/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Synonymous_S364S,Synonymous_S364S,Synonymous_S325S 1:24981439-AG 1 24981439 [A/G] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Synonymous_T378T,Synonymous_T378T,Synonymous_T339T 1:24981520-AC 1 24981520 [A/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Synonymous_A405A,Synonymous_A405A,Synonymous_A366A 1:24989688-AG 1 24989688 [A/G] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Silent,Missense_K546R,Missense_K507R exm32595 1 24995631 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_P586L,Missense_P598L,Missense_P559L chr1_24995847 1 24995847 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_S658F,Missense_S670F,Missense_S631F chr1_24995901 1 24995901 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_P676L,Missense_P688L,Missense_P649L exm32611 1 24995933 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_R687W,Missense_R699W,Missense_R660W 1:24996669-GA 1 24996669 [A/G] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_G755R,Missense_G767R,Missense_G728R rs141735034 1 24997828 [T/C] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 Silent,Silent,Silent 1:24998679-GA 1 24998679 [A/G] NM_005839,NM_001303448,NM_001303449 SRRM1,SRRM1,SRRM1 EXON Missense_E873K,Missense_E885K,Missense_E846K rs142145966 1 25010221 [A/G] rs6691770 1 25012493 [T/C] rs59237554 1 25015004 [A/G] rs4649013 1 25015514 [A/G] rs181066236 1 25017059 [T/C] rs2885174 1 25021037 [A/C] rs77087373 1 25022265 [A/G] rs4344265 1 25022293 [A/G] rs139200872 1 25022696 [A/G] JHU_1.25023333 1 25023334 [T/C] JHU_1.25035866 1 25035867 [T/G] rs369118395 1 25039613 [A/G] rs4649016 1 25040302 [T/G] rs77429524 1 25040619 [C/G] rs116348876 1 25042903 [A/G] rs4601530 1 25044111 [T/C] JHU_1.25049679 1 25049680 [A/C] rs72654663 1 25050030 [A/G] rs1002706 1 25051153 [A/G] rs115609657 1 25051823 [T/G] 1:25054223-C-G 1 25054223 [G/C] 1:25062149-G-A 1 25062149 [A/G] rs2185151 1 25069939 [A/G] 1:25072110-CA 1 25072110 [A/C] NM_013943 CLIC4 EXON Missense_F22L kgp377810 1 25073020 [T/C] NM_013943 CLIC4 Silent kgp3625443 1 25073571 [A/C] NM_013943 CLIC4 Silent rs116761732 1 25074171 [A/G] NM_013943 CLIC4 Silent JHU_1.25079838 1 25079839 [A/G] NM_013943 CLIC4 Silent JHU_1.25105447 1 25105448 [T/A] NM_013943 CLIC4 Silent JHU_1.25112374 1 25112375 [A/G] NM_013943 CLIC4 Silent exm32654 1 25124329 [A/G] NM_013943 CLIC4 EXON Missense_V57I JHU_1.25131598 1 25131599 [A/C] NM_013943 CLIC4 Silent rs143630409 1 25137906 [A/G] NM_013943 CLIC4 Silent rs3890756 1 25140825 [A/G] NM_013943 CLIC4 Silent rs4233040 1 25144573 [T/C] NM_013943 CLIC4 Silent rs10794663 1 25145128 [T/C] NM_013943 CLIC4 Silent JHU_1.25148834 1 25148835 [T/C] NM_013943 CLIC4 Silent JHU_1.25153996 1 25153997 [T/C] NM_013943 CLIC4 Silent rs6667299 1 25158500 [T/C] NM_013943 CLIC4 Silent exm32664 1 25167282 [T/C] NM_013943 CLIC4 EXON Missense_R206C variant.1744 1 25167351 [T/G] NM_013943 CLIC4 EXON Nonsense_E229X JHU_1.25168314 1 25168315 [A/C] NM_013943 CLIC4 EXON Silent rs12439 1 25169634 [A/G] NM_013943 CLIC4 EXON Silent JHU_1.25171305 1 25171306 [T/G] rs112441123 1 25174416 [T/G] rs115283122 1 25177523 [T/G] rs7551842 1 25178310 [T/C] rs58140145 1 25180357 [G/C] JHU_1.25185668 1 25185669 [A/C] JHU_1.25185676 1 25185677 [T/C] JHU_1.25185706 1 25185707 [A/G] JHU_1.25185718 1 25185719 [T/C] rs7523543 1 25186716 [A/G] JHU_1.25187330 1 25187331 [T/C] rs6681012 1 25188064 [A/G] rs10903108 1 25188940 [T/G] rs188908794 1 25190881 [A/G] rs79466364 1 25191388 [A/G] JHU_1.25192011 1 25192012 [A/G] rs3131513 1 25193155 [A/G] JHU_1.25193277 1 25193278 [A/G] JHU_1.25193287 1 25193288 [A/G] rs2361150 1 25194299 [A/G] rs75020741 1 25197108 [T/C] JHU_1.25197356 1 25197357 [T/G] rs3131520 1 25198575 [T/C] rs3131522 1 25199722 [T/G] rs72874370 1 25206098 [A/G] rs4649033 1 25207629 [A/G] rs12027805 1 25213379 [T/G] rs7551358 1 25213803 [A/G] rs12124858 1 25215247 [T/C] rs10903113 1 25215750 [T/C] rs7513064 1 25216031 [A/G] rs4649036 1 25217346 [A/G] JHU_1.25224504 1 25224505 [T/C] rs9438860 1 25224957 [G/C] rs7514332 1 25225675 [G/C] JHU_1.25227537 1 25227538 [T/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Silent,Silent,Silent rs144276013 1 25227604 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Silent,Silent,Silent 1:25228644-CT 1 25228644 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Missense_R420H,Missense_R420H,Missense_R406H 1:25228645-GT 1 25228645 [T/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Missense_R420S,Missense_R420S,Missense_R406S 1:25228690-CT 1 25228690 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Missense_D405N,Missense_D405N,Missense_D391N 1:25228714-CT 1 25228714 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Missense_G397S,Missense_G397S,Missense_G383S exm32692 1 25228900 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Missense_G335R,Missense_G335R,Missense_G321R rs34188858 1 25228900 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Missense_G335R,Missense_G335R,Missense_G321R rs74060467 1 25229554 [A/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs9438875 1 25231562 [T/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent chr1_25233875 1 25233875 [A/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Missense_P207L,Missense_P207L,Missense_P193L 1:25233885-GA 1 25233885 [A/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Nonsense_Q204X,Nonsense_Q204X,Nonsense_Q190X JHU_1.25236933 1 25236934 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs150972362 1 25237503 [T/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs1984521 1 25237811 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs76826071 1 25238040 [A/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs1003699 1 25242576 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs2236852 1 25243767 [A/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs59607986 1 25249584 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs742230 1 25251424 [A/G] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs6662768 1 25251938 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent rs144797417 1 25254125 [T/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 EXON Missense_V141I,Missense_V141I,Missense_V127I rs79784290 1 25255850 [G/C] NM_001320672,NM_001031680,NM_004350 RUNX3,RUNX3,RUNX3 Silent,Silent,Silent JHU_1.25260216 1 25260217 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent JHU_1.25263996 1 25263997 [A/G] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent JHU_1.25264161 1 25264162 [A/G] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent JHU_1.25264326 1 25264327 [T/G] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent JHU_1.25264657 1 25264658 [G/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent JHU_1.25266756 1 25266757 [A/G] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent JHU_1.25267103 1 25267104 [A/G] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs77105859 1 25270583 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent JHU_1.25272391 1 25272392 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs7551188 1 25273200 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs139360739 1 25273337 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent JHU_1.25273821 1 25273822 [C/G] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs148398371 1 25274777 [T/G] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent exm2251041 1 25277982 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs11249206 1 25277982 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs1848185 1 25282961 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs72876153 1 25283808 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs60097574 1 25288832 [A/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs78036957 1 25289197 [T/C] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent rs144421201 1 25289840 [A/G] NM_001320672,NM_001031680 RUNX3,RUNX3 Silent,Silent JHU_1.25294194 1 25294195 [A/G] rs112702191 1 25296560 [A/C] JHU_1.25296559 1 25296560 [A/C] rs10751776 1 25296743 [A/C] exm-rs11249215 1 25297184 [A/G] rs11249215 1 25297184 [A/G] rs11249216 1 25297217 [T/G] rs16830188 1 25298841 [T/C] JHU_1.25299746 1 25299747 [T/C] rs1609996 1 25301869 [T/C] JHU_1.25303536 1 25303537 [T/C] rs10903122 1 25303576 [A/G] exm-rs10903122 1 25303576 [A/G] rs10794667 1 25304552 [T/C] JHU_1.25305156 1 25305157 [A/G] rs6690896 1 25305607 [A/G] JHU_1.25306441 1 25306442 [A/G] rs12719821 1 25306562 [T/C] JHU_1.25306582 1 25306583 [T/C] JHU_1.25306957 1 25306958 [T/C] rs34121458 1 25308257 [T/C] 1:25308276-C-T 1 25308276 [T/C] JHU_1.25308499 1 25308500 [T/C] JHU_1.25308530 1 25308531 [T/G] JHU_1.25309022 1 25309023 [A/G] rs74060620 1 25309727 [T/C] rs148295849 1 25309975 [T/C] rs72877706 1 25310721 [T/G] rs419655 1 25312962 [T/C] JHU_1.25314117 1 25314118 [A/G] rs311432 1 25316924 [T/C] rs76791461 1 25317074 [A/G] rs311435 1 25317684 [T/C] JHU_1.25318332 1 25318333 [A/C] rs311437 1 25319751 [T/G] rs9438880 1 25322574 [A/G] rs4649042 1 25325837 [A/G] rs4556303 1 25327994 [G/C] rs311469 1 25331411 [A/G] rs311470 1 25331468 [A/G] rs12058910 1 25333264 [A/G] rs12117144 1 25335222 [T/C] rs115435856 1 25335881 [A/G] rs10489161 1 25338799 [A/G] JHU_1.25339542 1 25339543 [A/G] JHU_1.25340853 1 25340854 [T/C] rs4649044 1 25342567 [T/C] JHU_1.25343445 1 25343446 [C/G] rs10903126 1 25344155 [A/G] JHU_1.25344450 1 25344451 [T/C] JHU_1.25345965 1 25345966 [A/G] JHU_1.25347845 1 25347846 [T/G] rs117344327 1 25350470 [T/C] rs4649046 1 25350497 [T/C] JHU_1.25351625 1 25351626 [A/G] rs12756137 1 25353794 [A/G] JHU_1.25353793 1 25353794 [A/G] rs11249245 1 25354020 [A/G] JHU_1.25354453 1 25354454 [A/G] rs80044359 1 25355930 [A/G] JHU_1.25356370 1 25356371 [A/G] rs180682463 1 25357272 [A/T] rs311426 1 25358211 [A/G] rs387240 1 25359929 [T/C] JHU_1.25360465 1 25360466 [T/C] JHU_1.25361891 1 25361892 [A/G] JHU_1.25362500 1 25362501 [A/C] rs72657082 1 25363313 [A/G] rs143884314 1 25363320 [C/G] rs10903128 1 25363338 [A/G] rs34153626 1 25363718 [T/G] JHU_1.25364340 1 25364341 [G/C] rs1702312 1 25364652 [T/C] rs115612699 1 25366504 [A/G] rs404100 1 25366987 [T/C] rs380939 1 25370521 [T/C] JHU_1.25370910 1 25370911 [A/G] rs80162707 1 25371849 [T/C] rs311446 1 25374180 [T/C] rs4649058 1 25375468 [A/G] rs11248971 1 25375583 [A/G] rs4082732 1 25377908 [A/C] rs4648897 1 25378265 [A/G] exm2264810 1 25378444 [A/G] rs1702311 1 25379360 [A/G] JHU_1.25379394 1 25379395 [G/C] rs7520145 1 25380023 [T/C] JHU_1.25381080 1 25381081 [A/G] rs74761775 1 25381547 [A/G] rs1997927 1 25382618 [A/G] rs4649060 1 25384533 [T/G] rs114343517 1 25391751 [T/G] rs448385 1 25395133 [A/G] rs11806510 1 25395272 [T/C] JHU_1.25395339 1 25395340 [T/G] JHU_1.25395350 1 25395351 [A/G] JHU_1.25396803 1 25396804 [T/C] JHU_1.25397471 1 25397472 [A/C] rs4568778 1 25397967 [T/C] JHU_1.25401024 1 25401025 [T/G] rs6685748 1 25401526 [T/C] rs6693687 1 25401760 [T/C] rs380337 1 25401850 [A/G] rs10903027 1 25402624 [T/C] rs372151 1 25402880 [A/T] rs443523 1 25403783 [T/G] JHU_1.25406646 1 25406647 [A/G] rs10493026 1 25407854 [T/G] rs12081177 1 25408685 [T/G] JHU_1.25409941 1 25409942 [T/C] rs113736046 1 25412144 [T/C] rs7533661 1 25413466 [A/G] rs311461 1 25418010 [A/G] rs75643939 1 25418803 [T/C] rs11588172 1 25421990 [T/C] JHU_1.25424902 1 25424903 [A/C] JHU_1.25425171 1 25425172 [C/G] JHU_1.25425299 1 25425300 [A/T] rs137941066 1 25427345 [A/G] rs706844 1 25429473 [T/C] rs12046478 1 25435663 [A/T] JHU_1.25436552 1 25436553 [A/G] rs2753303 1 25438501 [A/G] rs115012585 1 25439413 [A/C] rs2660353 1 25441546 [T/C] JHU_1.25443051 1 25443052 [A/G] rs115600089 1 25443059 [A/G] rs2753312 1 25444860 [T/C] JHU_1.25446628 1 25446629 [T/G] JHU_1.25450783 1 25450784 [T/C] rs11803677 1 25456401 [A/G] JHU_1.25457056 1 25457057 [T/C] rs2660367 1 25460648 [T/G] rs11804893 1 25462079 [A/G] JHU_1.25466946 1 25466947 [T/C] rs7530932 1 25467161 [A/G] rs74060712 1 25468726 [T/C] rs150610970 1 25468972 [A/T] rs2064251 1 25469913 [A/G] 1:25470603-C-T 1 25470603 [T/C] JHU_1.25471970 1 25471971 [A/G] JHU_1.25472464 1 25472465 [A/G] JHU_1.25472537 1 25472538 [A/G] 1:25472548-G-C 1 25472548 [G/C] JHU_1.25472547 1 25472548 [G/C] rs9438862 1 25475195 [A/G] 1:25476186-C-T 1 25476186 [T/C] rs146442683 1 25477023 [A/G] 1:25478812-A-T 1 25478812 [A/T] 1:25482789-A-G 1 25482789 [A/G] rs926461 1 25486203 [A/G] 1:25486847-G-A 1 25486847 [A/G] rs11586496 1 25489481 [T/C] rs117124617 1 25489671 [T/C] rs7527379 1 25495966 [A/G] 1:25497883-C-T 1 25497883 [T/C] rs7534070 1 25498175 [T/G] rs742390 1 25499030 [A/G] 1:25500618-G-T 1 25500618 [T/G] 1:25501484-C-T 1 25501484 [T/C] rs77080616 1 25507590 [A/G] rs6600267 1 25508191 [T/C] JHU_1.25509821 1 25509822 [A/G] rs80116214 1 25510109 [A/C] 1:25510233-G-A 1 25510233 [A/G] JHU_1.25513045 1 25513046 [T/C] JHU_1.25513587 1 25513588 [A/C] 1:25513931-C-G 1 25513931 [G/C] 1:25517902-T-A 1 25517902 [A/T] 1:25518645-G-T 1 25518645 [T/G] rs149771225 1 25519294 [G/C] JHU_1.25519602 1 25519603 [T/C] rs4520361 1 25519623 [T/C] JHU_1.25519831 1 25519832 [A/G] 1:25521615-G-A 1 25521615 [A/G] 1:25521694-C-T 1 25521694 [T/C] rs148684746 1 25521773 [A/G] rs187196064 1 25521921 [T/C] rs16830471 1 25523288 [A/G] rs742391 1 25525711 [T/C] JHU_1.25526911 1 25526912 [G/C] rs7414501 1 25527781 [A/G] JHU_1.25528234 1 25528235 [T/C] 1:25529482-G-A 1 25529482 [A/G] 1:25530714-C-G 1 25530714 [C/G] rs186261264 1 25530800 [A/G] JHU_1.25538113 1 25538114 [A/G] rs7516417 1 25548332 [A/G] 1:25548740-C-G 1 25548740 [G/C] rs138225984 1 25549212 [T/G] NM_207170,NM_015484 SYF2,SYF2 EXON Silent,Silent exm32781 1 25551505 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_D143G,Missense_D185G exm32783 1 25551509 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_I142V,Missense_I184V 1:25551565-TC 1 25551565 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_N123S,Missense_N165S exm32789 1 25553993 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_H94R,Missense_H136R rs12057593 1 25554230 [T/C] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent JHU_1.25554662 1 25554663 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_A66T,Missense_A108T variant.1748 1 25555484 [T/C] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent 1:25555533-TC 1 25555533 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Silent,Missense_K72E 1:25555604-CT 1 25555604 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Silent,Missense_R48H exm2268872 1 25555672 [T/C] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent rs942988 1 25555813 [A/G] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent JHU_1.25556785 1 25556786 [T/G] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent 1:25557200-A-G 1 25557200 [A/G] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent 1:25558636-CA 1 25558636 [A/C] NM_207170,NM_015484 SYF2,SYF2 EXON Nonsense_E31X,Nonsense_E31X JHU_1.25562770 1 25562771 [A/C] 1:25563291-G-A 1 25563291 [A/G] rs61777578 1 25565906 [A/G] rs9438867 1 25566205 [T/G] 1:25569158-A-AG 1 25569158 [D/I] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON newrs149585550 1 25569197 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:25570058-TC 1 25570058 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_I247V,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I247V,Silent,Silent,Silent,Silent,Silent exm32810 1 25570081 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_E239G,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E239G,Silent,Silent,Silent,Silent,Silent rs1043879 1 25570081 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_E239G,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E239G,Silent,Silent,Silent,Silent,Silent exm32815 1 25571666 [A/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_V216A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V216A,Silent,Silent,Silent,Silent,Silent 1:25571753-GA 1 25571753 [A/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_A187V,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A187V,Silent,Silent,Silent,Silent,Silent indel.1752 1 25572950 [I/D] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON exm32828 1 25572968 [A/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_R163W,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R163W,Silent,Silent,Silent,Silent,Silent exm32830 1 25572984 [T/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_R157S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R157S,Silent,Silent,Silent,Silent,Silent exm32831 1 25572985 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_R157K,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R157K,Silent,Silent,Silent,Silent,Silent exm32832 1 25572993 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Nonsense_W154X,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_W154X,Silent,Silent,Silent,Silent,Silent exm32833 1 25573016 [A/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_Y147H,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y147H,Silent,Silent,Silent,Silent,Silent chr1_25573062 1 25573062 [T/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Nonsense_Y131X,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Y131X,Silent,Silent,Silent,Silent,Silent 1:25573107-A-ACGGGAC 1 25573107 [D/I] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON exm32839 1 25573151 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_R102G,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R102G,Silent,Silent,Silent,Silent,Silent exm32843 1 25573262 [C/G] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_R65G,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R65G,Silent,Silent,Silent,Silent,Silent exm32848 1 25573406 [T/C] NR_135783,NR_135777,NM_020317,NR_135782,NR_135778,NR_135780,NR_135781,NR_135144,NR_135786,NR_135787,NM_001321772,NR_135784,NR_135785,NR_135788,NR_135143,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Missense_D17N,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D17N,Silent,Silent,Silent,Silent,Silent JHU_1.25584949 1 25584950 [T/C] NR_135777,NR_135787,NM_001321772,NR_135788,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 Silent,Silent,Silent,Silent,Silent rs139111376 1 25584950 [T/C] NR_135777,NR_135787,NM_001321772,NR_135788,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 Silent,Silent,Silent,Silent,Silent 1:25584976-G-A 1 25584976 [A/G] NR_135777,NR_135787,NM_001321772,NR_135788,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 Silent,Silent,Silent,Silent,Silent rs118144644 1 25589343 [T/C] NR_135777,NR_135787,NM_001321772,NR_135788,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 Silent,Silent,Silent,Silent,Silent 1:25596845-G-T 1 25596845 [T/G] NR_135787,NM_001321772,NR_135788,NR_135789 RSRP1,RSRP1,RSRP1,RSRP1 Silent,Silent,Silent,Silent 1:25599085-TG-T 1 25599085 [D/I] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD EXON 1:25601115-A-C 1 25601115 [A/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:25604951-C-T 1 25604951 [T/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:25608401-T-C 1 25608401 [T/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.25610257 1 25610258 [T/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.25610687 1 25610688 [A/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs121912762 1 25611244 [T/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD EXON Silent,Silent,Silent,Silent,Silent,Missense_L110P,Missense_L110P,Missense_L110P,Missense_L110P,Missense_L110P,Missense_L110P,Missense_L110P 1:25611565-A-G 1 25611565 [A/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:25617206-CT 1 25617206 [T/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD EXON Silent,Silent,Silent,Silent,Silent,Missense_A137V,Missense_A137V,Missense_A137V,Missense_A137V,Missense_A137V,Missense_A137V,Missense_A137V rs56818965 1 25619569 [A/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2986168 1 25627332 [A/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.1762 1 25627434 [I/D] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD 1:25627447-AC 1 25627447 [A/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD EXON Silent,Silent,Silent,Silent,Silent,Missense_H166P,Missense_H166P,Missense_H166P,Missense_H166P,Missense_H166P,Missense_H166P,Missense_H166P exm32886 1 25627470 [A/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD EXON Silent,Silent,Silent,Silent,Missense_V8M,Missense_V174M,Missense_V174M,Missense_V174M,Missense_V174M,Missense_V174M,Missense_V174M,Missense_V174M JHU_1.25628049 1 25628050 [T/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD EXON Silent,Silent,Silent,Silent,Missense_S59F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F exm32902 1 25628050 [T/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD EXON Silent,Silent,Silent,Silent,Missense_S59F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F,Missense_S225F chr1_25628143 1 25628143 [G/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD EXON Silent,Silent,Silent,Silent,Nonsense_S90X,Nonsense_S256X,Nonsense_S256X,Nonsense_S256X,Nonsense_S256X,Nonsense_S256X,Nonsense_S256X,Nonsense_S256X exm32925 1 25629950 [A/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869,NR_135790,NR_135792,NR_135793,NR_135791 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Silent,Silent,Synonymous_P147P,Synonymous_P313P,Synonymous_P313P,Synonymous_P313P,Synonymous_P313P,Synonymous_P313P,Synonymous_P313P,Synonymous_P313P,Silent,Silent,Silent,Silent 1:25631774-G-T 1 25631774 [T/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869,NR_135790,NR_135792,NR_135793,NR_135791 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RSRP1,RSRP1,RSRP1,RSRP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:25633145-GA 1 25633145 [A/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869,NR_135790,NR_135792,NR_135793,NR_135791 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Silent,Silent,Missense_S167N,Silent,Missense_S333N,Missense_S333N,Silent,Missense_S333N,Missense_S333N,Missense_S333N,Silent,Silent,Silent,Silent rs2257611 1 25634205 [A/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869,NR_135790,NR_135792,NR_135793,NR_135791 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V381M,Silent,Silent,Missense_V381M,Silent,Silent,Silent,Silent,Silent rs3927482 1 25646933 [T/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869,NR_135790,NR_135792,NR_135793,NR_135791 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RSRP1,RSRP1,RSRP1,RSRP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs28521963 1 25655538 [A/G] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869,NR_135790,NR_135792,NR_135793,NR_135791 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G435R,Silent,Silent,Silent,Missense_G465R,Silent,Silent,Silent,Silent,Silent 1:25655563-CT 1 25655563 [T/C] NR_135787,NM_001321772,NR_135788,NR_135789,NM_001282867,NM_001282868,NM_001282870,NM_001282872,NM_001127691,NM_016124,NM_001282871,NM_001282869,NR_135790,NR_135792,NR_135793,NR_135791 RSRP1,RSRP1,RSRP1,RSRP1,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RHD,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S443F,Silent,Silent,Silent,Missense_S473F,Silent,Silent,Silent,Silent,Silent JHU_1.25663630 1 25663631 [T/G] NR_135787,NM_001321772,NR_135788,NR_135789,NR_135790,NR_135792,NR_135793,NR_135791 RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1,RSRP1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.25664798 1 25664799 [T/A] NM_014313 TMEM50A EXON Silent exm32949 1 25667024 [T/G] NM_014313 TMEM50A EXON Missense_W16L 1:25667219-T-C 1 25667219 [T/C] NM_014313 TMEM50A Silent JHU_1.25667538 1 25667539 [A/T] NM_014313 TMEM50A Silent 1:25668326-C-T 1 25668326 [T/C] NM_014313 TMEM50A Silent 1:25668714-T-C 1 25668714 [T/C] NM_014313 TMEM50A Silent 1:25669358-G-A 1 25669358 [A/G] NM_014313 TMEM50A Silent exm32955 1 25669467 [T/G] NM_014313 TMEM50A EXON Missense_W37G exm32957 1 25669531 [T/C] NM_014313 TMEM50A EXON Missense_A58V rs3093588 1 25669656 [T/C] NM_014313 TMEM50A Silent JHU_1.25669828 1 25669829 [A/G] NM_014313 TMEM50A Silent JHU_1.25671610 1 25671611 [T/C] NM_014313 TMEM50A Silent rs3093599 1 25672804 [A/T] NM_014313 TMEM50A Silent exm-rs3091242 1 25674785 [T/C] NM_014313 TMEM50A Silent rs3091242 1 25674785 [T/C] NM_014313 TMEM50A Silent newrs145601651 1 25678145 [T/C] NM_014313 TMEM50A EXON Nonsense_R79X 1:25678146-GA 1 25678146 [A/G] NM_014313 TMEM50A EXON Missense_R79Q exm1779623 1 25679393 [A/G] NM_014313 TMEM50A EXON Missense_V99I 1:25679409-CA 1 25679409 [A/C] NM_014313 TMEM50A EXON Missense_A104D exm32964 1 25679438 [A/G] NM_014313 TMEM50A EXON Missense_I114V 1:25681312-G-A 1 25681312 [A/G] NM_014313 TMEM50A Silent 1:25684012-C-T 1 25684012 [T/C] NM_014313 TMEM50A Silent 1:25687901-T-C 1 25687901 [T/C] NM_014313 TMEM50A EXON Silent 1:25688137-A-G 1 25688137 [A/G] NM_014313 TMEM50A EXON Silent 1:25688276-A-G 1 25688276 [A/G] NM_014313 TMEM50A EXON Silent rs3093658 1 25688792 [A/G] NM_014313,NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 TMEM50A,RHCE,RHCE,RHCE,RHCE,RHCE EXON Silent,Silent,Silent,Silent,Silent,Silent rs1293259 1 25695835 [A/G] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent 1:25704980-T-A 1 25704980 [T/A] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent rs149152056 1 25705424 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent 1:25709258-A-C 1 25709258 [A/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent exm32979 1 25712227 [C/G] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_H350D,Missense_H245D,Silent,Missense_H350D,Missense_H199D exm32981 1 25712269 [A/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_G336C,Missense_G231C,Silent,Missense_G336C,Missense_G185C 1:25712680-T-C 1 25712680 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent JHU_1.25717364 1 25717365 [G/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_A226P,Silent,Missense_A226P,Missense_A226P,Silent exm33001 1 25717365 [G/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_A226P,Silent,Missense_A226P,Missense_A226P,Silent 1:25717367-GA 1 25717367 [A/G] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_S225F,Silent,Missense_S225F,Missense_S225F,Silent exm33010 1 25718599 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_V174M,Silent,Missense_V174M,Missense_V174M,Silent 1:25719599-T-A 1 25719599 [T/A] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent 1:25722206-T-C 1 25722206 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent 1:25727486-T-C 1 25727486 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent 1:25727770-A-G 1 25727770 [A/G] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent JHU_1.25727769 1 25727770 [A/G] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent 1:25729163-GA 1 25729163 [A/G] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_A137V,Missense_A137V,Missense_A137V,Missense_A137V,Missense_A137V rs200244860 1 25729169 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_N135S,Missense_N135S,Missense_N135S,Missense_N135S,Missense_N135S exm1780091 1 25729198 [G/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_I125M,Missense_I125M,Missense_I125M,Missense_I125M,Missense_I125M 1:25729233-GA 1 25729233 [A/G] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_R114W,Missense_R114W,Missense_R114W,Missense_R114W,Missense_R114W JHU_1.25729701 1 25729702 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent 1:25740847-A-C 1 25740847 [A/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent rs58205210 1 25741470 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent rs607722 1 25742350 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent rs28477488 1 25745812 [A/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent,Silent exm2263875 1 25747156 [T/C] NM_020485,NM_138617,NM_138618,NM_001330430,NM_138616 RHCE,RHCE,RHCE,RHCE,RHCE EXON Missense_Q41R,Missense_Q41R,Missense_Q41R,Missense_Q41R,Missense_Q41R 1:25747628-A-G 1 25747628 [A/G] 1:25752617-A-G 1 25752617 [A/G] rs11249248 1 25753051 [T/C] 1:25753565-G-A 1 25753565 [A/G] 1:25753638-C-T 1 25753638 [T/C] JHU_1.25754828 1 25754829 [A/G] 1:25754829-G-A 1 25754829 [A/G] 1:25755014-G-A 1 25755014 [A/G] 1:25757221-T-C 1 25757221 [T/C] 1:25758419-T-C 1 25758419 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25758655-G-A 1 25758655 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25760920-C-T 1 25760920 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25761291-T-C 1 25761291 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25762805-A-AT 1 25762805 [I/D] NM_001282564,NM_018202 MACO1,MACO1 1:25762902-A-T 1 25762902 [A/T] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25764474-G-A 1 25764474 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent rs9438906 1 25764548 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25765483-A-G 1 25765483 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25765897-TAAAC-T 1 25765897 [D/I] NM_001282564,NM_018202 MACO1,MACO1 1:25767609-G-A 1 25767609 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent rs10903129 1 25768937 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent exm-rs10903129 1 25768937 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25769209-G-GA 1 25769209 [I/D] NM_001282564,NM_018202 MACO1,MACO1 1:25769221-A-T 1 25769221 [T/A] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25770188-C-G 1 25770188 [C/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25774644-CTT-C 1 25774644 [I/D] NM_001282564,NM_018202 MACO1,MACO1 1KG_1_25775374 1 25775374 [I/D] NM_001282564,NM_018202 MACO1,MACO1 EXON 1:25775682-A-T 1 25775682 [T/A] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent rs12027135 1 25775733 [T/A] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent exm-rs12027135 1 25775733 [T/A] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent JHU_1.25777555 1 25777556 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25777743-C-T 1 25777743 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25778106-C-T 1 25778106 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25778832-G-A 1 25778832 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25780668-C-T 1 25780668 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25780893-A-G 1 25780893 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25783066-A-G 1 25783066 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent exm33067 1 25783303 [A/C] NM_001282564,NM_018202 MACO1,MACO1 EXON Silent,Missense_Q211H 1:25784318-A-G 1 25784318 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent exm33077 1 25785240 [A/C] NM_001282564,NM_018202 MACO1,MACO1 EXON Silent,Missense_S337R 1:25785451-A-G 1 25785451 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25786812-A-G 1 25786812 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25787313-G-A 1 25787313 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent rs34933589 1 25788198 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25788425-C-A 1 25788425 [A/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25788456-G-A 1 25788456 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25790198-A-T 1 25790198 [A/T] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25790745-A-G 1 25790745 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25791906-G-A 1 25791906 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25792062-G-T 1 25792062 [T/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent kgp3584491 1 25794892 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25798123-G-A 1 25798123 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent rs139707759 1 25799997 [C/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25800790-C-T 1 25800790 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25801409-C-T 1 25801409 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent JHU_1.25802055 1 25802056 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent JHU_1.25803858 1 25803859 [T/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25807095-T-C 1 25807095 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent JHU_1.25807474 1 25807475 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent JHU_1.25807510 1 25807511 [C/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent JHU_1.25808395 1 25808396 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25808948-T-C 1 25808948 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25809057-A-G 1 25809057 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25810416-A-G 1 25810416 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25810675-GA 1 25810675 [A/G] NM_001282564,NM_018202 MACO1,MACO1 EXON Missense_R181H,Missense_R408H 1:25810966-A-G 1 25810966 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25811546-T-A 1 25811546 [A/T] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25812859-A-G 1 25812859 [A/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25813620-T-C 1 25813620 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25815754-CA 1 25815754 [A/C] NM_001282564,NM_018202 MACO1,MACO1 EXON Missense_D302E,Missense_D529E rs118033132 1 25815962 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25816659-CATA-C 1 25816659 [I/D] NM_001282564,NM_018202 MACO1,MACO1 1:25816847-T-C 1 25816847 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25817705-C-T 1 25817705 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent rs115340137 1 25818182 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25821671-G-T 1 25821671 [T/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25821688-G-T 1 25821688 [T/G] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25821837-C-T 1 25821837 [T/C] NM_001282564,NM_018202 MACO1,MACO1 Silent,Silent 1:25825781-G-A 1 25825781 [A/G] NM_001282564,NM_018202 MACO1,MACO1 EXON Silent,Silent 1:25825956-T-C 1 25825956 [T/C] NM_001282564,NM_018202 MACO1,MACO1 EXON Silent,Silent 1:25826328-G-A 1 25826328 [A/G] NM_001282564,NM_018202 MACO1,MACO1 EXON Silent,Silent 1:25826502-A-G 1 25826502 [A/G] NM_001282564,NM_018202 MACO1,MACO1 EXON Silent,Silent 1:25827633-C-T 1 25827633 [T/C] JHU_1.25828314 1 25828315 [T/C] 1:25828323-CCT-C 1 25828323 [D/I] 1:25828758-T-C 1 25828758 [T/C] 1:25829988-C-T 1 25829988 [T/C] 1:25830899-C-T 1 25830899 [T/C] 1:25840046-T-C 1 25840046 [T/C] 1:25840226-G-A 1 25840226 [A/G] 1:25840774-C-T 1 25840774 [T/C] 1:25841631-C-T 1 25841631 [T/C] 1:25842945-A-C 1 25842945 [A/C] 1:25844714-G-A 1 25844714 [A/G] 1:25846670-C-A 1 25846670 [A/C] 1:25849851-T-C 1 25849851 [T/C] 1:25849942-C-T 1 25849942 [T/C] rs72871942 1 25851420 [A/G] 1:25851629-A-G 1 25851629 [A/G] 1:25852593-A-T 1 25852593 [T/A] 1:25853220-A-G 1 25853220 [A/G] rs72871946 1 25853561 [G/C] 1:25854608-C-T 1 25854608 [T/C] 1:25855025-G-A 1 25855025 [A/G] 1:25855094-A-G 1 25855094 [A/G] 1:25855436-T-G 1 25855436 [T/G] JHU_1.25856036 1 25856037 [T/C] 1:25856754-G-C 1 25856754 [C/G] 1:25858030-G-A 1 25858030 [A/G] 1:25858083-G-A 1 25858083 [A/G] 1:25859024-G-T 1 25859024 [T/G] 1:25859300-G-A 1 25859300 [A/G] 1:25860516-G-A 1 25860516 [A/G] 1:25860915-A-G 1 25860915 [A/G] 1:25863179-A-G 1 25863179 [A/G] 1:25863694-A-G 1 25863694 [A/G] JHU_1.25866357 1 25866358 [A/G] JHU_1.25866792 1 25866793 [A/G] JHU_1.25866837 1 25866838 [T/C] 1:25868115-G-A 1 25868115 [A/G] rs117648164 1 25868887 [T/C] rs77344422 1 25874676 [T/C] NM_015627 LDLRAP1 Silent JHU_1.25876399 1 25876400 [A/G] NM_015627 LDLRAP1 Silent rs113203593 1 25877317 [A/G] NM_015627 LDLRAP1 Silent JHU_1.25877572 1 25877573 [A/C] NM_015627 LDLRAP1 Silent rs72873730 1 25878528 [A/G] NM_015627 LDLRAP1 Silent JHU_1.25879915 1 25879916 [A/G] NM_015627 LDLRAP1 Silent 1:25880434-GAC-G 1 25880434 [I/D] NM_015627 LDLRAP1 EXON exm33104 1 25880437 [T/C] NM_015627 LDLRAP1 EXON Missense_T38M 1:25880466-GT-G 1 25880466 [I/D] NM_015627 LDLRAP1 EXON Variant48211 1 25880491 [T/C] NM_015627 LDLRAP1 EXON Missense_T56M exm33110 1 25881403 [A/G] NM_015627 LDLRAP1 EXON Missense_R95Q 1:25883693-AG 1 25883693 [A/G] NM_015627 LDLRAP1 EXON Missense_I132V 1:25883705-C-T 1 25883705 [T/C] NM_015627 LDLRAP1 EXON Nonsense_Q136X ilmnseq_rs750383461 1 25883729 [I/D] NM_015627 LDLRAP1 EXON 1:25883735-TC 1 25883735 [T/C] NM_015627 LDLRAP1 EXON Missense_F146L exm33125 1 25883750 [T/C] NM_015627 LDLRAP1 EXON Missense_R151W rs74060931 1 25883820 [C/G] NM_015627 LDLRAP1 Silent JHU_1.25883841 1 25883842 [A/G] NM_015627 LDLRAP1 Silent JHU_1.25884133 1 25884134 [A/C] NM_015627 LDLRAP1 Silent rs34253960 1 25884492 [A/G] NM_015627 LDLRAP1 Silent JHU_1.25884559 1 25884560 [A/G] NM_015627 LDLRAP1 Silent JHU_1.25884639 1 25884640 [T/C] NM_015627 LDLRAP1 Silent rs75471743 1 25888240 [A/G] NM_015627 LDLRAP1 Silent 1:25889192-CT 1 25889192 [T/C] NM_015627 LDLRAP1 EXON Nonsense_Q173X rs12096438 1 25889422 [T/C] NM_015627 LDLRAP1 Silent 1:25889539-AG 1 25889539 [A/G] NM_015627 LDLRAP1 Silent exm33137 1 25889632 [T/C] NM_015627 LDLRAP1 EXON Missense_S202P exm33138 1 25889633 [A/C] NM_015627 LDLRAP1 EXON Missense_S202Y exm33142 1 25890161 [T/C] NM_015627 LDLRAP1 EXON Missense_T209I exm33143 1 25890188 [T/C] NM_015627 LDLRAP1 EXON Missense_T218I rs41291054 1 25890207 [T/C] NM_015627 LDLRAP1 EXON Synonymous_S224S exm33146 1 25890211 [A/G] NM_015627 LDLRAP1 EXON Missense_V226I 1:25890247-CT 1 25890247 [T/C] NM_015627 LDLRAP1 EXON Missense_R238W chr1_25890266 1 25890266 [A/G] NM_015627 LDLRAP1 EXON Missense_G244D 1:25893353-GT 1 25893353 [T/G] NM_015627 LDLRAP1 EXON Missense_R266L exm33163 1 25893406 [A/G] NM_015627 LDLRAP1 EXON Missense_A284T exm33168 1 25893463 [A/G] NM_015627 LDLRAP1 EXON Missense_D303N rs3924234 1 25895599 [T/C] JHU_1.25897592 1 25897593 [T/C] JHU_1.25897630 1 25897631 [T/C] JHU_1.25905481 1 25905482 [T/C] rs10902661 1 25908241 [T/C] rs4573505 1 25910533 [A/T] rs144806171 1 25912249 [C/G] rs140184024 1 25912660 [A/G] rs7546822 1 25914219 [T/C] JHU_1.25917306 1 25917307 [T/C] rs7553504 1 25928935 [T/C] rs6690565 1 25938947 [C/G] rs6689171 1 25941014 [A/G] rs3754168 1 25941936 [T/G] exm33178 1 25944454 [C/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_P56A,Missense_P56A 1:25944671-GT 1 25944671 [T/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_S128I,Missense_S128I 1:25944677-CA 1 25944677 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_P130Q,Missense_P130Q 1:25944746-GA 1 25944746 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_R153H,Missense_R153H rs2982299 1 25949775 [T/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.25949947 1 25949948 [T/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs6662191 1 25950520 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.25965831 1 25965832 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs3767908 1 25968690 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.25972719 1 25972720 [C/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.25974374 1 25974375 [T/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs3014714 1 25981789 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs3014712 1 25991356 [T/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26002584 1 26002585 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26004021 1 26004022 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26004098 1 26004099 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs7533178 1 26005360 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs77944287 1 26008263 [T/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs61481022 1 26009226 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs2786878 1 26009250 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26009249 1 26009250 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26010210 1 26010211 [C/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs142108542 1 26010211 [C/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent exm33191 1 26012988 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_R200C,Missense_R200C rs2744778 1 26013252 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs115482291 1 26015436 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26015435 1 26015436 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs114893312 1 26015599 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs2744780 1 26020784 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs139853712 1 26021206 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs59573546 1 26024225 [A/T] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26026560 1 26026561 [G/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26027063 1 26027064 [T/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs112577426 1 26027347 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26030417 1 26030418 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs57223611 1 26042192 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs2993236 1 26042661 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26049336 1 26049337 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26050871 1 26050872 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26059649 1 26059650 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs2786875 1 26061266 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs116411494 1 26062218 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs12058626 1 26062613 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs141062258 1 26064886 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26064943 1 26064944 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs3767880 1 26069415 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs146475237 1 26070567 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent exm33195 1 26073240 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_K240T,Missense_K240T exm33196 1 26073242 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A241T,Missense_A241T JHU_1.26074083 1 26074084 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs112224945 1 26074316 [T/A] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs72662666 1 26076574 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26077693 1 26077694 [T/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent exm33205 1 26080021 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A294V,Missense_A294V rs11803482 1 26080955 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs807262 1 26081051 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26081636 1 26081637 [G/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs78280108 1 26082266 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent JHU_1.26083994 1 26083995 [T/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs12082465 1 26084799 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent exm1781563 1 26085106 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A318V,Missense_A318V rs41284276 1 26087369 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs807270 1 26090072 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs3820515 1 26092248 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent rs76502857 1 26092724 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent exm2268666 1 26097731 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent 1:26098153-GA 1 26098153 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_V383I,Missense_V383I JHU_1.26099327 1 26099328 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent 1:26104629-GA 1 26104629 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_G431R,Missense_G431R 1:26104752-GA 1 26104752 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A472T,Missense_A472T 1:26104773-GA 1 26104773 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A479T,Missense_A479T exm33243 1 26104774 [A/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A479D,Missense_A479D exm33252 1 26107481 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_V510M,Missense_V510M exm33254 1 26107502 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_S517G,Missense_S517G 1:26107592-GA 1 26107592 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_E547K,Missense_E547K JHU_1.26108577 1 26108578 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 Silent,Silent exm33256 1 26109077 [G/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Missense_A551G,Missense_A551G exm33269 1 26110236 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Silent,Missense_V617M JHU_1.26111078 1 26111079 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Silent,Silent JHU_1.26111333 1 26111334 [A/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Silent,Silent JHU_1.26111492 1 26111493 [C/G] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Silent,Silent JHU_1.26112129 1 26112130 [T/C] NM_001289010,NM_020379 MAN1C1,MAN1C1 EXON Silent,Silent 1:26114376-A-G 1 26114376 [A/G] JHU_1.26115809 1 26115810 [T/G] rs710830 1 26116980 [T/C] JHU_1.26117241 1 26117242 [C/G] rs6695210 1 26118650 [A/G] rs7524154 1 26125175 [T/C] JHU_1.26126275 1 26126276 [A/C] JHU_1.26127201 1 26127202 [T/G] NM_206926,NM_020451 SELENON,SELENON Silent,Silent seq-rs398124360 1 26127652 [T/G] NM_206926,NM_020451 SELENON,SELENON Silent,Silent JHU_1.26129486 1 26129487 [T/C] NM_206926,NM_020451 SELENON,SELENON Silent,Silent rs77514467 1 26130871 [T/C] NM_206926,NM_020451 SELENON,SELENON Silent,Silent JHU_1.26131517 1 26131518 [T/C] NM_206926,NM_020451 SELENON,SELENON Silent,Silent exm33277 1 26131638 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_T103A,Missense_T137A rs35019869 1 26131638 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_T103A,Missense_T137A exm33278 1 26131644 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_A105T,Missense_A139T exm33280 1 26131654 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_C108Y,Missense_C142Y rs200958015 1 26131656 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_E109K,Missense_E143K ilmnseq_rs753774853 1 26131694 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Synonymous_T121T,Synonymous_T155T rs115183232 1 26132541 [T/C] NM_206926,NM_020451 SELENON,SELENON Silent,Silent rs72877454 1 26132762 [A/G] NM_206926,NM_020451 SELENON,SELENON Silent,Silent rs200224030 1 26135078 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R148H,Missense_R182H 1:26135140-AC 1 26135140 [A/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_T169P,Missense_T203P ilmnseq_rs368104077 1 26135245 [I/D] NM_206926,NM_020451 SELENON,SELENON EXON exm33290 1 26135249 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R205H,Missense_R239H rs139020143 1 26135262 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Synonymous_P209P,Synonymous_P243P Variant48212 1 26135571 [T/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R234C,Missense_R268C 1:26135587-G-A 1 26135587 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_G239E,Missense_G273E Variant48214 1 26135640 [T/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R257W,Missense_R291W Variant48215 1 26135641 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R257Q,Missense_R291Q seq-rs794727808 1 26135643 [T/C] NM_206926,NM_020451 SELENON,SELENON Silent,Silent Variant48216 1 26136179 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_H259R,Missense_H293R exm33299 1 26136244 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_G281S,Missense_G315S rs121908188 1 26136244 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_G281S,Missense_G315S ilmnseq_rs121908188_ilmndup1 1 26136244 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_G281S,Missense_G315S Variant48218 1 26137953 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_N306S,Missense_N340S rs201316362 1 26138009 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_I325V,Missense_I359V rs148071754 1 26138032 [C/G] NM_206926,NM_020451 SELENON,SELENON Silent,Silent seq-rs794727976 1 26138185 [T/G] NM_206926,NM_020451 SELENON,SELENON EXON Nonsense_E332X,Nonsense_E366X 1:26138237-GGCA-G 1 26138237 [I/D] NM_206926,NM_020451 SELENON,SELENON EXON 1:26138251-AG 1 26138251 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_S354G,Missense_S388G Variant48221 1 26139211 [T/C] NM_206926,NM_020451 SELENON,SELENON EXON Nonsense_R405X,Nonsense_R439X rs377215510 1 26139211 [T/C] NM_206926,NM_020451 SELENON,SELENON EXON Nonsense_R405X,Nonsense_R439X 1:26139212-GA 1 26139212 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R405Q,Missense_R439Q 1:26139254-G-C 1 26139254 [C/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_W419S,Missense_W453S rs121908185 1 26140381 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R432Q,Missense_R466Q 1:26140381-G-A 1 26140381 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R432Q,Missense_R466Q Variant48224 1 26140389 [T/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R435W,Missense_R469W exm33331 1 26140573 [A/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_N468K,Missense_N502K 1:26140602-CT 1 26140602 [T/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_A478V,Missense_A512V rs41284307 1 26140683 [T/C] NM_206926,NM_020451 SELENON,SELENON Silent,Silent rs199911454 1 26142059 [T/C] NM_206926,NM_020451 SELENON,SELENON EXON Synonymous_N507N,Synonymous_N541N exm33340 1 26142081 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_V515M,Missense_V549M rs147131452 1 26142081 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_V515M,Missense_V549M rs183272965 1 26142151 [A/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_T538N,Missense_T572N exm33346 1 26142180 [T/C] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R548W,Missense_R582W exm33347 1 26142181 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Missense_R548Q,Missense_R582Q rs116792929 1 26143709 [A/G] NM_206926,NM_020451 SELENON,SELENON EXON Silent,Silent JHU_1.26144544 1 26144545 [T/A] NM_206926,NM_020451 SELENON,SELENON EXON Silent,Silent JHU_1.26147533 1 26147534 [A/G] NM_001099625,NM_001099627,NR_024498,NM_019557,NM_001099626 MTFR1L,MTFR1L,LOC646471,MTFR1L,MTFR1L EXON Silent,Silent,Silent,Silent,Silent var_1_26150110 1 26150110 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent variant.1792 1 26150111 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent exm33356 1 26150160 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_P17L,Missense_P17L,Missense_P17L,Missense_P17L 1:26150162-CT 1 26150162 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_H18Y,Missense_H18Y,Missense_H18Y,Missense_H18Y exm33359 1 26150190 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R27K,Missense_R27K,Missense_R27K,Missense_R27K rs3754147 1 26150876 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent JHU_1.26150875 1 26150876 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent exm33365 1 26152835 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_P58S,Missense_P58S,Missense_P58S,Missense_P58S exm33370 1 26153114 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_T83M,Missense_T83M,Missense_T83M,Missense_T83M exm33373 1 26153204 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R113K,Missense_R113K,Missense_R113K,Missense_R113K exm33375 1 26153245 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R127C,Missense_R127C,Missense_R127C,Missense_R127C JHU_1.26153640 1 26153641 [C/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent rs10902694 1 26155356 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent exm33383 1 26156074 [A/T] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_S176T,Silent,Missense_S176T,Missense_S176T exm33384 1 26156118 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Synonymous_T190T,Missense_P154L,Synonymous_T190T,Synonymous_T190T exm33385 1 26156133 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Synonymous_V195V,Nonsense_W159X,Synonymous_V195V,Synonymous_V195V 1:26156206-GA 1 26156206 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_A220T,Synonymous_K183K,Missense_A220T,Missense_A220T variant.1795 1 26156299 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Nonsense_R251X,Silent,Nonsense_R251X,Nonsense_R251X exm33394 1 26158498 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626,NM_001287490 MTFR1L,MTFR1L,MTFR1L,MTFR1L,AUNIP EXON Missense_I287T,Silent,Missense_I287T,Missense_I287T,Silent 1:26158608-TC 1 26158608 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626,NM_001287490 MTFR1L,MTFR1L,MTFR1L,MTFR1L,AUNIP EXON Silent,Silent,Silent,Silent,Missense_I363V JHU_1.26160721 1 26160722 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Silent,Silent indel.1796 1 26161572 [I/D] NM_001287490,NM_024037 AUNIP,AUNIP EXON exm33400 1 26161593 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_N322S,Missense_N322S var_1_26161629 1 26161630 [I/D] NM_001287490,NM_024037 AUNIP,AUNIP EXON exm33403 1 26161671 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_R296Q,Missense_R296Q 1:26161731-TC 1 26161731 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_N276S,Missense_N276S Variant12341 1 26161769 [I/D] NM_001287490,NM_024037 AUNIP,AUNIP EXON indel.1798 1 26161781 [I/D] NM_001287490,NM_024037 AUNIP,AUNIP EXON 1:26161784-GT 1 26161784 [T/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_N258K,Missense_N258K indel.1799 1 26161784 [I/D] NM_001287490,NM_024037 AUNIP,AUNIP EXON indel.1800 1 26161799 [D/I] NM_001287490,NM_024037 AUNIP,AUNIP EXON exm33409 1 26161800 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_S253F,Missense_S253F 1:26161828-GA 1 26161828 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_P244S,Missense_P244S variant.1801 1 26161834 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Nonsense_Q242X,Nonsense_Q242X indel.1804 1 26161916 [D/I] NM_001287490,NM_024037 AUNIP,AUNIP EXON 1:26161924-CT 1 26161924 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_E212K,Missense_E212K variant.1805 1 26161965 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Nonsense_W198X,Nonsense_W198X variant.1806 1 26161999 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Nonsense_R187X,Nonsense_R187X exm33419 1 26162016 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_S181N,Missense_S181N exm33424 1 26162109 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_S150L,Missense_S150L exm2251114 1 26162258 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Synonymous_A100A,Synonymous_A100A exm33428 1 26162259 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_A100V,Missense_A100V 1:26162287-GA 1 26162287 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Nonsense_Q91X,Nonsense_Q91X exm33430 1 26162313 [T/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_K82T,Missense_K82T 1:26163978-TC 1 26163978 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_Y49C,Missense_Y49C exm33437 1 26163981 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_I48T,Missense_I48T indel.1809 1 26164006 [D/I] NM_001287490,NM_024037 AUNIP,AUNIP EXON exm33438 1 26164009 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_L39F,Missense_L39F indel.1810 1 26164009 [D/I] NM_001287490,NM_024037 AUNIP,AUNIP EXON rs213632 1 26167843 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP Silent,Silent rs213627 1 26172111 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP Silent,Silent rs118024132 1 26181441 [T/C] NM_001287490,NM_024037 AUNIP,AUNIP Silent,Silent 1:26185799-GA 1 26185799 [A/G] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_A17V,Missense_A17V exm33442 1 26185812 [A/C] NM_001287490,NM_024037 AUNIP,AUNIP EXON Missense_V13L,Missense_V13L exm1781783 1 26189349 [T/G] NM_178422 PAQR7 EXON Missense_L328I exm33455 1 26189366 [A/G] NM_178422 PAQR7 EXON Missense_T322M 1:26189475-TC 1 26189475 [T/C] NM_178422 PAQR7 EXON Missense_T286A exm33461 1 26189517 [T/C] NM_178422 PAQR7 EXON Missense_G272R 1:26189555-AG 1 26189555 [A/G] NM_178422 PAQR7 EXON Missense_M259T 1:26189574-CT 1 26189574 [T/C] NM_178422 PAQR7 EXON Missense_A253T exm33466 1 26189652 [T/C] NM_178422 PAQR7 EXON Missense_V227M 1:26189723-CT 1 26189723 [T/C] NM_178422 PAQR7 EXON Missense_R203H chr1_26189787 1 26189787 [A/C] NM_178422 PAQR7 EXON Missense_A182S exm33473 1 26189838 [T/C] NM_178422 PAQR7 EXON Missense_A165T 1:26189889-CT 1 26189889 [T/C] NM_178422 PAQR7 EXON Missense_V148M exm33477 1 26189939 [G/C] NM_178422 PAQR7 EXON Missense_S131C 1:26190006-TC 1 26190006 [T/C] NM_178422 PAQR7 EXON Missense_I109V exm33490 1 26190120 [T/C] NM_178422 PAQR7 EXON Missense_E71K exm33494 1 26190140 [A/G] NM_178422 PAQR7 EXON Missense_T64M 1:26190144-GA 1 26190144 [A/G] NM_178422 PAQR7 EXON Missense_R63C exm1781797 1 26190156 [A/G] NM_178422 PAQR7 EXON Missense_R59C exm33499 1 26190188 [T/C] NM_178422 PAQR7 EXON Missense_Y48C exm33503 1 26190287 [T/C] NM_178422 PAQR7 EXON Missense_R15Q rs11576981 1 26198499 [A/G] rs75762393 1 26199392 [T/C] rs79254155 1 26202959 [A/T] rs213621 1 26207244 [A/G] rs159530 1 26210791 [T/C] NM_001145454 STMN1 EXON Silent JHU_1.26211206 1 26211207 [A/G] NM_001145454 STMN1 EXON Silent rs159528 1 26211773 [T/C] NM_001145454 STMN1 EXON Silent exm2233038 1 26212220 [A/C] NM_001145454 STMN1 EXON Missense_H173Q chr1_26212256 1 26212256 [T/G] NM_001145454 STMN1 EXON Missense_Q161H exm33531 1 26212261 [A/G] NM_001145454 STMN1 EXON Missense_L160F chr1_26212323 1 26212323 [A/G] NM_001145454 STMN1 EXON Missense_A139V JHU_1.26214138 1 26214139 [C/G] NM_001145454 STMN1 Silent JHU_1.26219286 1 26219287 [T/C] NM_001145454 STMN1 Silent rs374641310 1 26219883 [A/G] NM_001145454 STMN1 Silent rs75336956 1 26220100 [T/C] NM_001145454 STMN1 Silent rs116111782 1 26227368 [T/C] NM_001145454,NM_203401,NM_005563,NM_203399 STMN1,STMN1,STMN1,STMN1 EXON Silent,Silent,Silent,Silent rs182455 1 26234983 [A/G] rs807061 1 26242882 [A/G] rs10902706 1 26246214 [A/G] 1:26246624-T-C 1 26246624 [T/C] JHU_1.26250207 1 26250208 [T/G] JHU_1.26259858 1 26259859 [T/C] rs298430 1 26260684 [A/G] rs10902707 1 26266697 [A/G] rs143322498 1 26273625 [T/A] rs2992064 1 26278253 [A/C] rs80026575 1 26283006 [T/C] rs10751731 1 26284884 [T/C] rs61776968 1 26286254 [T/C] 1:26288499-TC 1 26288499 [T/C] NM_000437 PAFAH2 EXON Missense_H387R exm33548 1 26288523 [A/G] NM_000437 PAFAH2 EXON Missense_P379L rs11580136 1 26290456 [A/G] NM_000437 PAFAH2 Silent JHU_1.26290455 1 26290456 [A/G] NM_000437 PAFAH2 Silent rs1429936 1 26297909 [A/G] NM_000437 PAFAH2 Silent exm2276804 1 26299049 [C/G] NM_000437 PAFAH2 EXON Missense_D362H exm33549 1 26299050 [A/G] NM_000437 PAFAH2 EXON Synonymous_L361L 1:26299180-GT 1 26299180 [T/G] NM_000437 PAFAH2 EXON Missense_T318N 1KG_1_26299200 1 26299200 [D/I] NM_000437 PAFAH2 EXON variant.1815 1 26299205 [T/C] NM_000437 PAFAH2 Silent exm33557 1 26300975 [T/C] NM_000437 PAFAH2 EXON Missense_V309I indel.1816 1 26301007 [D/I] NM_000437 PAFAH2 EXON indel.1817 1 26301035 [D/I] NM_000437 PAFAH2 EXON variant.1818 1 26301080 [A/G] NM_000437 PAFAH2 EXON Nonsense_R274X Variant12342 1 26301104 [D/I] NM_000437 PAFAH2 EXON exm33561 1 26301114 [T/C] NM_000437 PAFAH2 EXON Missense_M262I rs298442 1 26301699 [T/C] NM_000437 PAFAH2 Silent exm33563 1 26303173 [T/C] NM_000437 PAFAH2 EXON Missense_R253Q 1:26303227-TC 1 26303227 [T/C] NM_000437 PAFAH2 EXON Missense_H235R exm33565 1 26303228 [A/G] NM_000437 PAFAH2 EXON Missense_H235Y rs6683366 1 26304949 [A/T] NM_000437 PAFAH2 Silent variant.1821 1 26308855 [T/C] NM_000437 PAFAH2 EXON Synonymous_K222K exm33566 1 26308864 [T/C] NM_000437 PAFAH2 EXON Missense_M219I indel.1822 1 26308880 [D/I] NM_000437 PAFAH2 EXON 1:26308892-TC 1 26308892 [T/C] NM_000437 PAFAH2 EXON Missense_N210S exm33570 1 26308958 [T/C] NM_000437 PAFAH2 EXON Missense_R188Q exm1781988 1 26310438 [T/C] NM_000437 PAFAH2 EXON Missense_Q184R exm33575 1 26310477 [A/G] NM_000437 PAFAH2 EXON Missense_V171A exm33576 1 26310481 [A/G] NM_000437 PAFAH2 EXON Nonsense_R170X 1:26310546-TC 1 26310546 [T/C] NM_000437 PAFAH2 EXON Missense_K148R 1:26314741-GA 1 26314741 [A/G] NM_000437 PAFAH2 EXON Missense_H108Y 1:26314788-CT 1 26314788 [T/C] NM_000437 PAFAH2 EXON Missense_G92D exm33595 1 26314810 [A/G] NM_000437 PAFAH2 EXON Missense_R85C exm33599 1 26315966 [T/C] NM_000437 PAFAH2 EXON Missense_G73R 1:26316065-AG 1 26316065 [A/G] NM_000437 PAFAH2 EXON Missense_C40R 1:26316094-TG 1 26316094 [T/G] NM_000437 PAFAH2 Silent variant.1829 1 26317229 [A/G] NM_000437 PAFAH2 EXON Nonsense_Q27X exm1782009 1 26317301 [A/C] NM_000437 PAFAH2 EXON Missense_V3F exm33612 1 26317303 [T/C] NM_000437 PAFAH2 EXON Missense_G2E rs147997330 1 26317761 [C/G] NM_000437 PAFAH2 Silent 1:26318720-A-C 1 26318720 [A/C] NM_000437 PAFAH2 Silent rs1932067 1 26322081 [T/C] NM_000437 PAFAH2 Silent JHU_1.26326932 1 26326933 [A/T] rs2992058 1 26330924 [T/C] JHU_1.26343274 1 26343275 [A/G] rs2154369 1 26343910 [C/G] rs12074420 1 26345027 [A/G] JHU_1.26345329 1 26345330 [A/G] 1:26348049-G-A 1 26348049 [A/G] 1:26349141-CT 1 26349141 [T/C] NM_004455 EXTL1 EXON Nonsense_Q2X exm33617 1 26349187 [T/C] NM_004455 EXTL1 EXON Missense_S17F JHU_1.26349244 1 26349245 [T/C] NM_004455 EXTL1 EXON Synonymous_P36P exm33623 1 26349252 [T/C] NM_004455 EXTL1 EXON Missense_R39W exm33625 1 26349342 [A/G] NM_004455 EXTL1 EXON Missense_V69I exm33626 1 26349354 [G/C] NM_004455 EXTL1 EXON Missense_Q73E exm1782051 1 26349373 [C/G] NM_004455 EXTL1 EXON Missense_S79T exm33627 1 26349374 [A/C] NM_004455 EXTL1 EXON Missense_S79R exm33631 1 26349417 [A/G] NM_004455 EXTL1 EXON Missense_D94N chr1_26349472 1 26349472 [A/G] NM_004455 EXTL1 EXON Missense_R112H 1:26349502-GA 1 26349502 [A/G] NM_004455 EXTL1 EXON Missense_R122H exm33636 1 26349625 [A/G] NM_004455 EXTL1 EXON Missense_R163H 1:26349708-CT 1 26349708 [T/C] NM_004455 EXTL1 EXON Missense_R191W exm33648 1 26349886 [C/G] NM_004455 EXTL1 EXON Missense_G250A rs12072473 1 26353367 [A/G] NM_004455 EXTL1 Silent JHU_1.26355349 1 26355350 [A/G] NM_004455 EXTL1 Silent exm33653 1 26355691 [T/C] NM_004455 EXTL1 EXON Missense_R263C exm33654 1 26355692 [A/G] NM_004455 EXTL1 EXON Missense_R263H JHU_1.26355738 1 26355739 [T/C] NM_004455 EXTL1 EXON Missense_R279C exm33656 1 26355739 [T/C] NM_004455 EXTL1 EXON Missense_R279C exm33657 1 26355740 [A/G] NM_004455 EXTL1 EXON Missense_R279H exm33658 1 26355745 [A/G] NM_004455 EXTL1 EXON Missense_E281K 1:26356156-GA 1 26356156 [A/G] NM_004455 EXTL1 EXON Nonsense_W313X exm33667 1 26356190 [G/C] NM_004455 EXTL1 EXON Missense_P325A exm33676 1 26357072 [A/C] NM_004455 EXTL1 EXON Missense_H363N 1:26357627-TC 1 26357627 [T/C] NM_004455 EXTL1 EXON Missense_I369T exm33681 1 26357656 [A/C] NM_004455 EXTL1 EXON Missense_H379N 1:26358932-CT 1 26358932 [T/C] NM_004455 EXTL1 EXON Missense_P463S 1:26359630-A-G 1 26359630 [A/G] NM_004455 EXTL1 Silent rs200110724 1 26359729 [T/C] NM_004455 EXTL1 EXON Missense_R481C 1:26359744-AG 1 26359744 [A/G] NM_004455 EXTL1 EXON Missense_S486G 1:26359783-CT 1 26359783 [T/C] NM_004455 EXTL1 EXON Missense_R499C rs115796049 1 26360334 [A/G] NM_004455 EXTL1 EXON Missense_A556T exm33708 1 26361467 [A/G] NM_004455 EXTL1 EXON Missense_G607D exm33709 1 26361497 [T/C] NM_004455 EXTL1 Silent rs76140591 1 26361549 [G/C] NM_004455 EXTL1 Silent exm33714 1 26361669 [A/C] NM_004455 EXTL1 EXON Missense_P621Q Variant39 1 26361837 [D/I] NM_004455 EXTL1 EXON rs2802315 1 26362194 [T/C] NM_004455 EXTL1 EXON Silent JHU_1.26363693 1 26363694 [T/C] rs41284323 1 26364690 [A/G] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Silent,Silent rs4659404 1 26365374 [T/G] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Silent,Silent exm33724 1 26365722 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_V350M,Missense_V301M exm33725 1 26365751 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_R340H,Missense_R291H exm33726 1 26365752 [A/G] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_R340C,Missense_R291C exm33728 1 26365782 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_A330T,Missense_A281T exm33735 1 26366369 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_R291H,Missense_R242H rs201084300 1 26369074 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_G233D,Missense_G184D 1:26369076-CT 1 26369076 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_M232I,Missense_M183I 1:26369129-GT 1 26369129 [T/G] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_P215T,Missense_P166T 1:26369133-TCTC-T 1 26369133 [D/I] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON 1:26369967-CT 1 26369967 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_R165Q,Missense_R116Q JHU_1.26370459 1 26370460 [A/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 Silent,Silent Variant48225 1 26371500 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_G87R,Missense_G87R rs185398527 1 26371500 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_G87R,Missense_G87R exm33767 1 26371679 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_G27E,Missense_G27E exm33774 1 26372371 [T/C] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Missense_K6R,Missense_K6R rs3008428 1 26376607 [A/G] rs1135253 1 26377880 [A/G] NM_032588 TRIM63 EXON Silent variant.1841 1 26380384 [T/C] NM_032588 TRIM63 EXON Missense_G351R rs61749354 1 26380394 [T/C] NM_032588 TRIM63 EXON Synonymous_G347G exm33781 1 26380423 [A/C] NM_032588 TRIM63 EXON Missense_D338Y 1:26383717-AG 1 26383717 [A/G] NM_032588 TRIM63 EXON Missense_L319P rs2275947 1 26383875 [A/G] NM_032588 TRIM63 Silent exm33794 1 26384907 [T/C] NM_032588 TRIM63 EXON Missense_E269K exm33796 1 26384973 [A/G] NM_032588 TRIM63 EXON Nonsense_Q247X 1:26385003-TC 1 26385003 [T/C] NM_032588 TRIM63 EXON Missense_K237E exm33805 1 26385059 [A/G] NM_032588 TRIM63 EXON Missense_A218V rs139003247 1 26386806 [T/C] NM_032588 TRIM63 EXON Missense_R183H exm2233040 1 26386806 [T/C] NM_032588 TRIM63 EXON Missense_R183H JHU_1.26387086 1 26387087 [A/T] NM_032588 TRIM63 Silent 1:26387745-TC 1 26387745 [T/C] NM_032588 TRIM63 EXON Missense_E138G rs148433331 1 26387763 [A/G] NM_032588 TRIM63 EXON Missense_I132T exm33828 1 26387820 [A/G] NM_032588 TRIM63 EXON Missense_P113L rs79836805 1 26392415 [A/G] NM_032588 TRIM63 Silent 1:26392777-TC 1 26392777 [T/C] NM_032588 TRIM63 EXON Missense_Y105C rs41284325 1 26392828 [C/G] NM_032588 TRIM63 EXON Missense_G88A exm33837 1 26392867 [T/C] NM_032588 TRIM63 EXON Missense_C75Y exm33838 1 26392870 [T/C] NM_032588 TRIM63 EXON Missense_R74H chr1_26392916 1 26392916 [A/G] NM_032588 TRIM63 EXON Missense_W59R exm33841 1 26392921 [A/G] NM_032588 TRIM63 EXON Missense_P57L exm33843 1 26393826 [T/C] NM_032588 TRIM63 Silent exm33845 1 26393843 [A/G] NM_032588 TRIM63 EXON Missense_A48V JHU_1.26394200 1 26394201 [T/C] rs1938402 1 26394413 [A/G] JHU_1.26397346 1 26397347 [T/G] rs72882897 1 26398765 [G/C] JHU_1.26401807 1 26401808 [T/G] rs116676637 1 26402693 [A/G] JHU_1.26408399 1 26408400 [A/G] rs34377495 1 26411483 [T/C] rs12069719 1 26411918 [A/G] JHU_1.26413863 1 26413864 [T/G] rs2783616 1 26419210 [T/C] rs72884748 1 26421409 [A/G] rs72884757 1 26423231 [A/G] JHU_1.26426718 1 26426719 [A/G] JHU_1.26429343 1 26429344 [A/C] JHU_1.26429355 1 26429356 [A/C] rs2802314 1 26431337 [T/C] JHU_1.26439254 1 26439255 [G/C] NM_001243532,NM_001243533,NM_152835 PDIK1L,PDIK1L,PDIK1L Silent,Silent,Silent rs56076306 1 26440129 [A/G] NM_001243532,NM_001243533,NM_152835 PDIK1L,PDIK1L,PDIK1L Silent,Silent,Silent 1:26441040-GA 1 26441040 [A/G] NM_001243532,NM_001243533,NM_152835 PDIK1L,PDIK1L,PDIK1L EXON Missense_V81M,Missense_V81M,Missense_V81M indel.1848 1 26441071 [D/I] NM_001243532,NM_001243533,NM_152835 PDIK1L,PDIK1L,PDIK1L EXON rs1981135 1 26447739 [A/G] NM_001243532,NM_001243533,NM_152835 PDIK1L,PDIK1L,PDIK1L Silent,Silent,Silent rs17257107 1 26448447 [A/G] NM_001243532,NM_001243533,NM_152835 PDIK1L,PDIK1L,PDIK1L EXON Synonymous_K135K,Synonymous_K135K,Synonymous_K135K exm2273320 1 26450009 [T/C] NM_001243532,NM_001243533,NM_152835 PDIK1L,PDIK1L,PDIK1L EXON Silent,Silent,Silent 1:26450101-A-G 1 26450101 [A/G] NM_001243532,NM_001243533,NM_152835 PDIK1L,PDIK1L,PDIK1L EXON Silent,Silent,Silent rs149874402 1 26452980 [A/C] JHU_1.26467268 1 26467269 [T/G] JHU_1.26469725 1 26469726 [A/G] rs139628851 1 26470905 [T/C] rs2259849 1 26474251 [A/T] rs868551 1 26475521 [A/G] rs114302836 1 26475719 [A/G] rs116012799 1 26480725 [A/G] rs77957852 1 26487111 [T/C] NM_024869 FAM110D Silent 1:26487790-TC 1 26487790 [T/C] NM_024869 FAM110D EXON Missense_L3P 1:26487808-CA 1 26487808 [A/C] NM_024869 FAM110D EXON Missense_P9Q exm33878 1 26487895 [A/G] NM_024869 FAM110D EXON Missense_R38Q 1:26487936-CT 1 26487936 [T/C] NM_024869 FAM110D EXON Missense_P52S 1:26488507-CT 1 26488507 [T/C] NM_024869 FAM110D EXON Missense_P242L 1:26488512-TG 1 26488512 [T/G] NM_024869 FAM110D EXON Missense_S244A 1:26488513-CA 1 26488513 [A/C] NM_024869 FAM110D EXON Nonsense_S244X JHU_1.26490723 1 26490724 [A/G] NM_001364669 C1orf232 EXON Synonymous_A163A rs10794523 1 26493171 [A/G] NM_001364669,NM_001364667 C1orf232,C1orf232 Silent,Silent rs10794524 1 26493240 [T/C] NM_001364669,NM_001364667 C1orf232,C1orf232 Silent,Silent 1:26496494-CA 1 26496494 [A/C] NM_015871 ZNF593 EXON Missense_T7K 1:26496520-GT 1 26496520 [T/G] NM_015871 ZNF593 EXON Missense_A16S 1:26496632-CT 1 26496632 [T/C] NM_015871 ZNF593 EXON Missense_P53L variant.1850 1 26496971 [T/G] NM_015871 ZNF593 EXON Missense_R88M rs8768 1 26497340 [A/C] NM_015871 ZNF593 EXON Silent JHU_1.26497339 1 26497340 [A/C] NM_015871 ZNF593 EXON Silent rs78113009 1 26499036 [T/G] rs147864332 1 26502592 [T/C] 1:26504045-CA 1 26504045 [A/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_P3T,Silent,Missense_P3T rs2783633 1 26505265 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 Silent,Silent,Silent 1:26507046-GA 1 26507046 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R52Q,Silent,Missense_R52Q rs182928543 1 26507078 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_G63R,Silent,Missense_G63R chr1_26507252 1 26507252 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_L86P,Silent,Missense_L86P exm1782552 1 26507260 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_A89T,Silent,Missense_A89T exm33951 1 26507327 [A/T] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_V111D,Silent,Missense_V111D JHU_1.26507406 1 26507407 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 Silent,Silent,Silent exm33962 1 26508416 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_S154N,Silent,Missense_S154N 1:26509007-GA 1 26509007 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_V186I,Silent,Missense_V186I exm33979 1 26509049 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_E200K,Silent,Missense_E200K exm33983 1 26509070 [C/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_P207A,Silent,Missense_P207A 1:26509859-AG 1 26509859 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_Q236R,Silent,Missense_Q236R 1:26510269-CT 1 26510269 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_A275V,Missense_A10V,Missense_A268V exm34003 1 26510299 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_P285L,Missense_P20L,Missense_P278L Variant12343 1 26510311 [D/I] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON 1:26510323-TC 1 26510323 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 Silent,Silent,Silent exm34008 1 26510563 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_T293M,Missense_T28M,Missense_T286M exm2233045 1 26510721 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_V322I,Missense_V57I,Missense_V315I 1:26510739-TC 1 26510739 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_S328P,Missense_S63P,Missense_S321P exm34024 1 26510940 [A/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_P357Q,Missense_P92Q,Missense_P350Q 1:26511532-GA 1 26511532 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R395Q,Missense_R130Q,Missense_R388Q 1:26511586-GA 1 26511586 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R413Q,Missense_R148Q,Missense_R406Q 1:26511606-AC 1 26511606 [A/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_M420L,Missense_M155L,Missense_M413L 1:26511613-CA 1 26511613 [A/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_P422Q,Missense_P157Q,Missense_P415Q exm34041 1 26511622 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R425H,Missense_R160H,Missense_R418H 1:26511631-GA 1 26511631 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Nonsense_W428X,Nonsense_W163X,Nonsense_W421X variant.1866 1 26513733 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 Silent,Silent,Silent exm34048 1 26513940 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_I481T,Missense_I216T,Missense_I474T rs144314289 1 26514732 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R495C,Missense_R230C,Missense_R488C exm34052 1 26514732 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R495C,Missense_R230C,Missense_R488C exm34053 1 26514762 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Nonsense_Q505X,Nonsense_Q240X,Nonsense_Q498X rs79038190 1 26514762 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Nonsense_Q505X,Nonsense_Q240X,Nonsense_Q498X 1:26514774-CT 1 26514774 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R509W,Missense_R244W,Missense_R502W exm34057 1 26514790 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R514Q,Missense_R249Q,Missense_R507Q 1:26514963-CT 1 26514963 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_P527L,Missense_P262L,Missense_P520L exm34069 1 26515261 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 Silent,Silent,Silent exm34070 1 26515264 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Synonymous_D571D,Synonymous_D306D,Synonymous_D564D 1:26515296-GA 1 26515296 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R582Q,Missense_R317Q,Missense_R575Q exm34076 1 26515337 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Nonsense_Q596X,Nonsense_Q331X,Nonsense_Q589X exm34084 1 26515416 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R622H,Missense_R357H,Missense_R615H exm34088 1 26515840 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R655H,Missense_R390H,Missense_R648H rs138057775 1 26515840 [A/G] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R655H,Missense_R390H,Missense_R648H exm34089 1 26515860 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_R662W,Missense_R397W,Missense_R655W exm34093 1 26515956 [A/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_H694N,Missense_H429N,Missense_H687N exm34094 1 26515965 [T/C] NM_001297647,NM_001297648,NM_006314 CNKSR1,CNKSR1,CNKSR1 EXON Missense_P697S,Missense_P432S,Missense_P690S rs4659411 1 26516845 [T/C] 1:26517170-CT 1 26517170 [T/C] NM_198137 CATSPER4 EXON Missense_L18F 1:26517200-CT 1 26517200 [T/C] NM_198137 CATSPER4 EXON Missense_R28C exm34106 1 26517216 [A/G] NM_198137 CATSPER4 EXON Missense_G33E exm34111 1 26517267 [A/G] NM_198137 CATSPER4 EXON Missense_H50R exm1782644 1 26517309 [A/G] NM_198137 CATSPER4 EXON Missense_R64H exm34121 1 26517793 [T/C] NM_198137 CATSPER4 EXON Nonsense_Q77X exm34122 1 26517794 [A/G] NM_198137 CATSPER4 EXON Missense_Q77R exm34124 1 26517811 [A/G] NM_198137 CATSPER4 EXON Missense_M83V 1:26517841-GA 1 26517841 [A/G] NM_198137 CATSPER4 EXON Missense_A93T rs11247867 1 26517891 [T/C] NM_198137 CATSPER4 EXON Synonymous_I109I exm34136 1 26520292 [T/G] NM_198137 CATSPER4 EXON Missense_L124F exm34141 1 26520354 [T/C] NM_198137 CATSPER4 EXON Missense_L145P 1:26520354-TC 1 26520354 [T/C] NM_198137 CATSPER4 EXON Missense_L145P rs151280406 1 26520354 [T/C] NM_198137 CATSPER4 EXON Missense_L145P exm-rs11809207 1 26521140 [A/G] NM_198137 CATSPER4 Silent rs12732367 1 26522723 [A/G] NM_198137 CATSPER4 Silent JHU_1.26522893 1 26522894 [T/C] NM_198137 CATSPER4 Silent 1:26524180-GA 1 26524180 [A/G] NM_198137 CATSPER4 EXON Missense_G155S 1:26524207-GA 1 26524207 [A/G] NM_198137 CATSPER4 EXON Missense_V164I 1:26524225-CT 1 26524225 [T/C] NM_198137 CATSPER4 EXON Missense_R170W rs144083626 1 26524225 [T/C] NM_198137 CATSPER4 EXON Missense_R170W exm34145 1 26524246 [A/G] NM_198137 CATSPER4 EXON Missense_N177D exm34149 1 26524450 [T/C] NM_198137 CATSPER4 EXON Missense_A187V 1:26524455-CT 1 26524455 [T/C] NM_198137 CATSPER4 EXON Missense_R189C exm34151 1 26524456 [A/G] NM_198137 CATSPER4 EXON Missense_R189H 1:26524495-GA 1 26524495 [A/G] NM_198137 CATSPER4 EXON Missense_R202Q exm34158 1 26524534 [T/C] NM_198137 CATSPER4 EXON Missense_A215V 1:26524551-AG 1 26524551 [A/G] NM_198137 CATSPER4 EXON Missense_I221V rs9970046 1 26524706 [A/G] NM_198137 CATSPER4 Silent JHU_1.26525513 1 26525514 [A/G] NM_198137 CATSPER4 Silent exm34177 1 26526375 [A/G] NM_198137 CATSPER4 EXON Synonymous_Q271Q exm34178 1 26526439 [A/G] NM_198137 CATSPER4 EXON Missense_I293V rs140858384 1 26526458 [A/T] NM_198137 CATSPER4 EXON Missense_I299N exm2233048 1 26526539 [A/C] NM_198137 CATSPER4 EXON Missense_T326N rs11247870 1 26527163 [A/C] NM_198137 CATSPER4 Silent rs12145714 1 26527255 [A/G] NM_198137 CATSPER4 Silent exm34187 1 26527325 [A/G] NM_198137 CATSPER4 EXON Missense_G331D exm1782677 1 26527913 [C/G] NM_198137 CATSPER4 EXON Missense_S423W exm34208 1 26527925 [A/G] NM_198137 CATSPER4 EXON Missense_G427E exm34212 1 26527951 [A/G] NM_198137 CATSPER4 EXON Missense_D436N 1:26528020-CT 1 26528020 [T/C] NM_198137 CATSPER4 Silent Variant41 1 26528059 [D/I] NM_198137 CATSPER4 1:26529023-GA 1 26529023 [A/G] NM_198137 CATSPER4 EXON Missense_S470N 1:26531004-A-G 1 26531004 [A/G] rs150322749 1 26539969 [G/C] JHU_1.26540294 1 26540295 [A/T] JHU_1.26540684 1 26540685 [T/C] rs4659413 1 26547375 [T/C] JHU_1.26548124 1 26548125 [T/G] JHU_1.26552311 1 26552312 [A/G] NR_110698 LOC101928303 Silent rs75481634 1 26552454 [T/C] NR_110698 LOC101928303 Silent JHU_1.26553259 1 26553260 [T/C] NR_110698 LOC101928303 Silent rs145976141 1 26560312 [A/C] rs3795687 1 26560745 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Silent,Silent,Silent rs139294191 1 26561402 [G/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 Silent,Silent,Silent rs145068229 1 26561801 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 Silent,Silent,Silent JHU_1.26562760 1 26562761 [T/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 Silent,Silent,Silent JHU_1.26562898 1 26562899 [T/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 Silent,Silent,Silent exm34219 1 26566299 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_T9A,Missense_T9A,Missense_T9A rs11247880 1 26568926 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 Silent,Silent,Silent JHU_1.26569802 1 26569803 [T/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 Silent,Silent,Silent 1:26570696-AG 1 26570696 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_E32G,Silent,Missense_E32G exm34226 1 26570744 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_R48H,Silent,Missense_R48H indel.1881 1 26570763 [D/I] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON rs10902724 1 26576032 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 Silent,Silent,Silent rs4659415 1 26580790 [T/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 Silent,Silent,Silent 1:26581700-AG 1 26581700 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_I83V,Missense_I32V,Missense_I83V exm34234 1 26581859 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_G136S,Missense_G85S,Missense_G136S exm34240 1 26581916 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_T155A,Missense_T104A,Missense_T155A exm2251133 1 26581981 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Synonymous_A176A,Synonymous_A125A,Synonymous_A176A exm34244 1 26582075 [T/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_H208Y,Missense_H157Y,Missense_H208Y 1:26582147-GA 1 26582147 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_G232R,Missense_G181R,Missense_G232R exm1782819 1 26582312 [T/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_R287W,Missense_R236W,Missense_R287W exm34256 1 26582340 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_Q296R,Missense_Q245R,Missense_Q296R 1:26584116-CCTG-C 1 26584116 [D/I] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON exm34262 1 26584144 [A/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Synonymous_I320I,Synonymous_I269I,Synonymous_I320I exm2251134 1 26584144 [A/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Synonymous_I320I,Synonymous_I269I,Synonymous_I320I 1:26584177-CA 1 26584177 [A/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_N331K,Missense_N280K,Missense_N331K exm34268 1 26584731 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_V379I,Missense_V328I,Missense_V379I exm34271 1 26586135 [T/C] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_R395C,Missense_R344C,Missense_R395C exm34276 1 26586167 [T/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_L405F,Missense_L354F,Missense_L405F rs72649338 1 26588347 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 Silent,Silent,Silent 1:26594978-AG 1 26594978 [A/G] NM_022778,NM_001281517,NM_001319944 CEP85,CEP85,CEP85 EXON Missense_K449R,Missense_K398R,Missense_K449R exm34289 1 26596080 [A/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_A542T,Missense_A491T,Missense_A542T,Silent rs7550997 1 26596080 [A/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_A542T,Missense_A491T,Missense_A542T,Silent rs12096059 1 26596709 [A/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 Silent,Silent,Silent,Silent exm34291 1 26597519 [A/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_Q555R,Missense_Q504R,Missense_Q555R,Silent exm34292 1 26597521 [T/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_S556A,Missense_S505A,Missense_S556A,Silent newrs142714882 1 26598562 [T/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_Q598H,Missense_Q547H,Missense_Q598H,Missense_Q30H exm34300 1 26598562 [T/G] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_Q598H,Missense_Q547H,Missense_Q598H,Missense_Q30H 1:26601474-CA 1 26601474 [A/C] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_A605D,Missense_A554D,Missense_A605D,Missense_A37D 1:26601500-CA 1 26601500 [A/C] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_L614M,Missense_L563M,Missense_L614M,Missense_L46M 1:26601549-CT 1 26601549 [T/C] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_T630I,Missense_T579I,Missense_T630I,Missense_T62I 1:26603066-CT 1 26603066 [T/C] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_T648I,Missense_T597I,Missense_T648I,Missense_T80I exm34307 1 26603090 [T/C] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_A656V,Missense_A605V,Missense_A656V,Missense_A88V chr1_26603707 1 26603707 [T/C] NM_022778,NM_001281517,NM_001319944,NM_001281518 CEP85,CEP85,CEP85,CEP85 EXON Missense_R738C,Missense_R687C,Missense_R737C,Missense_R170C 1:26606659-CT 1 26606659 [T/C] NM_031286 SH3BGRL3 EXON Missense_R5C 1:26606687-CA 1 26606687 [A/C] NM_031286 SH3BGRL3 EXON Missense_S14Y exm34323 1 26607302 [A/G] NM_031286 SH3BGRL3 EXON Missense_R32H 1:26607340-GA 1 26607340 [A/G] NM_031286 SH3BGRL3 EXON Missense_A45T exm2233051 1 26607406 [A/G] NM_031286 SH3BGRL3 EXON Missense_G67R 1:26607442-GA 1 26607442 [A/G] NM_031286 SH3BGRL3 Silent exm2251136 1 26607563 [T/C] NM_031286 SH3BGRL3 EXON Synonymous_F77F Variant12347 1 26608848 [D/I] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON 1:26608878-GCCGGGACCGGGA-GCCGGGA 1 26608878 [I/D] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Variant37813 1 26608892 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Synonymous_P487P,Synonymous_P367P,Synonymous_P454P exm34376 1 26608896 [G/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_C486S,Missense_C366S,Missense_C453S exm34381 1 26608935 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R473Q,Missense_R353Q,Missense_R440Q exm1782881 1 26609029 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_S442G,Missense_S322G,Missense_S409G 1:26609049-GA 1 26609049 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_A435V,Missense_A315V,Missense_A402V 1:26609162-GA 1 26609162 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Nonsense_R424X,Nonsense_R304X,Nonsense_R391X 1:26609173-AG 1 26609173 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_I420T,Missense_I300T,Missense_I387T exm1782884 1 26609233 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R400H,Missense_R280H,Missense_R367H 1:26609355-CCT-C 1 26609355 [I/D] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON 1:26609410-CA 1 26609410 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_A366S,Missense_A246S,Missense_A333S rs112940649 1 26609924 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent 1:26610722-CA 1 26610722 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_A330S,Missense_A210S,Missense_A297S exm34405 1 26610881 [G/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_K315N,Missense_K195N,Missense_K282N exm34406 1 26610891 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_L312R,Missense_L192R,Missense_L279R 1:26610933-AG 1 26610933 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_L298P,Missense_L178P,Missense_L265P 1:26610957-TC 1 26610957 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_N290S,Missense_N170S,Missense_N257S exm34412 1 26610961 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R289C,Missense_R169C,Missense_R256C Variant44 1 26611842 [I/D] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 1:26611903-CA 1 26611903 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent exm34416 1 26611971 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_N279S,Missense_N159S,Missense_N246S 1:26612014-AAT-A 1 26612014 [I/D] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON exm34418 1 26612032 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R259C,Missense_R139C,Missense_R226C Variant37814 1 26612460 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Synonymous_L210L,Synonymous_L90L,Synonymous_L177L 1:26612461-GCTCA-G 1 26612461 [I/D] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON exm34427 1 26612475 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Nonsense_Q205X,Nonsense_Q85X,Nonsense_Q172X JHU_1.26612925 1 26612926 [T/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent rs75517917 1 26612926 [T/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent rs4233458 1 26615616 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent rs6696025 1 26617774 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent JHU_1.26618465 1 26618466 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent rs6598955 1 26619649 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent 1:26620719-GA 1 26620719 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_T179I,Silent,Missense_T146I exm34430 1 26620735 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_E174K,Silent,Missense_E141K exm34433 1 26620806 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_Y150C,Silent,Missense_Y117C rs6681452 1 26621101 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent exm34445 1 26623935 [T/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_T113N,Silent,Missense_T80N exm34446 1 26623939 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Nonsense_Q112X,Silent,Nonsense_Q79X exm34448 1 26624467 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_E96K,Silent,Missense_E63K exm34449 1 26624479 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_A92S,Silent,Missense_A59S JHU_1.26626016 1 26626017 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent exm34452 1 26627423 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R65W,Missense_R65W,Silent rs2276712 1 26627478 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Synonymous_S46S,Synonymous_S46S,Silent exm2233053 1 26628186 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_D33E,Missense_D33E,Missense_D33E 1:26628196-AG 1 26628196 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_I30T,Missense_I30T,Missense_I30T rs7512569 1 26628293 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent exm34469 1 26629304 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_G24E,Missense_G24E,Missense_G24E exm34470 1 26629322 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_S18L,Missense_S18L,Missense_S18L 1:26629325-GA 1 26629325 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_P17L,Missense_P17L,Missense_P17L variant.1903 1 26629341 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Nonsense_R12X,Nonsense_R12X,Nonsense_R12X JHU_1.26633316 1 26633317 [G/C] NM_145345 UBXN11 Silent rs12726972 1 26639634 [A/G] NM_145345 UBXN11 Silent exm34477 1 26644537 [A/C] NM_145345,NM_001803 UBXN11,CD52 EXON Silent,Missense_T10N 1:26644539-AG 1 26644539 [A/G] NM_145345,NM_001803 UBXN11,CD52 EXON Silent,Missense_I11V 1:26646665-CA 1 26646665 [A/C] NM_001803 CD52 EXON Missense_Q20K 1:26646681-GA 1 26646681 [A/G] NM_001803 CD52 EXON Missense_G25E exm34488 1 26646730 [A/G] NM_001803 CD52 EXON Missense_I41M exm34491 1 26646783 [A/G] NM_001803 CD52 EXON Missense_C59Y JHU_1.26648057 1 26648058 [G/C] exm34499 1 26648530 [A/G] NM_001039775 CRYBG2 EXON Missense_R1639W 1:26648657-TC 1 26648657 [T/C] NM_001039775 CRYBG2 EXON Missense_K1632R exm34506 1 26648684 [A/G] NM_001039775 CRYBG2 EXON Missense_M1623T exm34508 1 26648705 [A/G] NM_001039775 CRYBG2 EXON Missense_S1616L 1:26648732-GA 1 26648732 [A/G] NM_001039775 CRYBG2 EXON Missense_P1607L rs11247915 1 26650550 [A/C] NM_001039775 CRYBG2 Silent 1:26650642-CT 1 26650642 [T/C] NM_001039775 CRYBG2 Silent exm34524 1 26650711 [C/G] NM_001039775 CRYBG2 EXON Missense_V1557L exm2251139 1 26650772 [T/C] NM_001039775 CRYBG2 EXON Synonymous_A1536A exm34529 1 26650786 [A/G] NM_001039775 CRYBG2 EXON Missense_R1532C exm34532 1 26650800 [T/C] NM_001039775 CRYBG2 EXON Missense_R1527H 1:26654737-CT 1 26654737 [T/C] NM_001039775 CRYBG2 EXON Missense_G1514D exm34538 1 26654776 [A/C] NM_001039775 CRYBG2 EXON Missense_V1501G exm34539 1 26654788 [T/C] NM_001039775 CRYBG2 EXON Missense_R1497H rs11247916 1 26655208 [T/C] NM_001039775 CRYBG2 Silent exm34552 1 26655304 [C/G] NM_001039775 CRYBG2 EXON Missense_E1459Q exm34554 1 26655319 [C/G] NM_001039775 CRYBG2 EXON Missense_E1454Q exm34556 1 26655327 [T/G] NM_001039775 CRYBG2 EXON Missense_E1451A exm34561 1 26658011 [A/G] NM_001039775 CRYBG2 EXON Missense_T1428I 1:26658074-TC 1 26658074 [T/C] NM_001039775 CRYBG2 EXON Missense_D1407G rs4659431 1 26658391 [A/C] NM_001039775 CRYBG2 Silent JHU_1.26662381 1 26662382 [A/G] NM_001039775 CRYBG2 Silent 1:26662650-CA 1 26662650 [A/C] NM_001039775 CRYBG2 EXON Nonsense_E1374X 1:26662665-CA 1 26662665 [A/C] NM_001039775 CRYBG2 EXON Missense_D1369Y 1:26662682-CA 1 26662682 [A/C] NM_001039775 CRYBG2 EXON Missense_R1363L 1:26663165-CT 1 26663165 [T/C] NM_001039775 CRYBG2 EXON Missense_V1324M 1:26663210-GT 1 26663210 [T/G] NM_001039775 CRYBG2 EXON Missense_Q1309K exm34583 1 26663362 [T/C] NM_001039775 CRYBG2 EXON Missense_S1294N exm34584 1 26663416 [T/C] NM_001039775 CRYBG2 EXON Missense_G1276D exm34585 1 26663417 [T/C] NM_001039775 CRYBG2 EXON Missense_G1276S 1:26663748-CT 1 26663748 [T/C] NM_001039775 CRYBG2 EXON Missense_R1256Q exm34590 1 26663749 [A/G] NM_001039775 CRYBG2 EXON Missense_R1256W exm34593 1 26663842 [A/G] NM_001039775 CRYBG2 EXON Missense_R1225W exm34600 1 26664113 [T/C] NM_001039775 CRYBG2 EXON Missense_R1187Q 1:26664905-GT 1 26664905 [T/G] NM_001039775 CRYBG2 EXON Nonsense_Y1136X exm34614 1 26664907 [A/C] NM_001039775 CRYBG2 EXON Missense_Y1136D rs11247919 1 26664968 [T/C] NM_001039775 CRYBG2 EXON Synonymous_L1115L 1:26665794-CT 1 26665794 [T/C] NM_001039775 CRYBG2 EXON Missense_V1111I variant.1916 1 26665922 [T/C] NM_001039775 CRYBG2 Silent exm34630 1 26669273 [G/C] NM_001039775 CRYBG2 EXON Missense_G1059A 1:26669345-CT 1 26669345 [T/C] NM_001039775 CRYBG2 EXON Missense_R1035Q 1:26669746-CA 1 26669746 [A/C] NM_001039775 CRYBG2 EXON Missense_R984S 1:26670333-GA 1 26670333 [A/G] NM_001039775 CRYBG2 EXON Missense_P939L exm34638 1 26670444 [T/G] NM_001039775 CRYBG2 EXON Missense_S902Y exm34640 1 26670609 [T/C] NM_001039775 CRYBG2 EXON Missense_R847H exm34641 1 26670656 [A/C] NM_001039775 CRYBG2 EXON Missense_E831D 1:26670753-GA 1 26670753 [A/G] NM_001039775 CRYBG2 EXON Missense_T799M exm34644 1 26670781 [A/G] NM_001039775 CRYBG2 EXON Missense_R790C 1:26670840-GA 1 26670840 [A/G] NM_001039775 CRYBG2 EXON Missense_T770M exm2233057 1 26671002 [T/G] NM_001039775 CRYBG2 EXON Missense_S716Y exm2233058 1 26671006 [A/C] NM_001039775 CRYBG2 EXON Missense_V715L 1:26671047-TC 1 26671047 [T/C] NM_001039775 CRYBG2 EXON Missense_D701G exm34651 1 26671084 [T/G] NM_001039775 CRYBG2 EXON Missense_P689T exm34652 1 26671144 [T/C] NM_001039775 CRYBG2 EXON Missense_I669V 1:26671179-GA 1 26671179 [A/G] NM_001039775 CRYBG2 EXON Missense_P657L exm34653 1 26671248 [A/G] NM_001039775 CRYBG2 EXON Missense_V634A 1:26671389-CT 1 26671389 [T/C] NM_001039775 CRYBG2 EXON Missense_G587D 1:26671414-GA 1 26671414 [A/G] NM_001039775 CRYBG2 EXON Missense_P579S 1:26671837-CT 1 26671837 [T/C] NM_001039775 CRYBG2 EXON Missense_A438T 1:26671899-CT 1 26671899 [T/C] NM_001039775 CRYBG2 EXON Missense_G417E 1:26671918-CT 1 26671918 [T/C] NM_001039775 CRYBG2 EXON Missense_E411K JHU_1.26671919 1 26671920 [G/C] NM_001039775 CRYBG2 EXON Missense_S410T exm34680 1 26671920 [G/C] NM_001039775 CRYBG2 EXON Missense_S410T 1:26672106-TC 1 26672106 [T/C] NM_001039775 CRYBG2 EXON Missense_Q348R exm34692 1 26672265 [A/C] NM_001039775 CRYBG2 EXON Missense_G295V exm34697 1 26672364 [T/C] NM_001039775 CRYBG2 EXON Missense_R262K 1:26672371-CT 1 26672371 [T/C] NM_001039775 CRYBG2 EXON Missense_G260R Variant37820 1 26672537 [A/G] NM_001039775 CRYBG2 EXON Synonymous_G204G 1:26672613-CT 1 26672613 [T/C] NM_001039775 CRYBG2 EXON Missense_R179Q 1:26672775-CT 1 26672775 [T/C] NM_001039775 CRYBG2 EXON Missense_R125H exm34720 1 26672838 [A/G] NM_001039775 CRYBG2 EXON Missense_P104L 1:26672973-CT 1 26672973 [T/C] NM_001039775 CRYBG2 EXON Missense_R59H exm34732 1 26673108 [T/C] NM_001039775 CRYBG2 EXON Missense_R14Q 1:26673121-GA 1 26673121 [A/G] NM_001039775 CRYBG2 EXON Missense_R10W rs7535656 1 26673466 [A/C] NM_001039775 CRYBG2 Silent rs12129995 1 26676673 [T/C] NM_001039775 CRYBG2 Silent rs72875104 1 26677234 [A/G] NM_001039775 CRYBG2 Silent JHU_1.26677233 1 26677234 [A/G] NM_001039775 CRYBG2 Silent rs11582416 1 26677721 [T/C] NM_001039775 CRYBG2 Silent rs6659727 1 26686515 [T/C] exm1783328 1 26688125 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Silent,Silent,Silent exm34735 1 26688173 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_P495L,Missense_P495L,Missense_P515L 1:26688278-GA 1 26688278 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_A460V,Missense_A460V,Missense_A480V exm34751 1 26688381 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_R426W,Missense_R426W,Missense_R446W 1:26688447-GA 1 26688447 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_R404W,Missense_R404W,Missense_R424W exm34759 1 26688464 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_R398H,Missense_R398H,Missense_R418H 1:26688667-CG 1 26688667 [C/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 Silent,Silent,Silent rs12030833 1 26689220 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 Silent,Silent,Silent variant.1924 1 26689517 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Synonymous_S381S,Synonymous_S381S,Synonymous_S381S 1:26689518-GA 1 26689518 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_S381L,Missense_S381L,Missense_S381L 1:26689635-CT 1 26689635 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_R342H,Missense_R342H,Missense_R342H rs7547496 1 26690481 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 Silent,Silent,Silent rs11247933 1 26691174 [A/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_R288L,Missense_R288L,Missense_R288L exm34778 1 26691174 [A/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_R288L,Missense_R288L,Missense_R288L exm34781 1 26691207 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_G277E,Missense_G277E,Missense_G277E exm34784 1 26691261 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_A259V,Missense_A259V,Missense_A259V 1:26691337-GA 1 26691337 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_P234S,Missense_P234S,Missense_P234S exm34796 1 26691351 [T/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_P229H,Missense_P229H,Missense_P229H exm34800 1 26691445 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_L198F,Missense_L198F,Missense_L198F exm34801 1 26691448 [T/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_P197T,Missense_P197T,Missense_P197T exm34802 1 26691466 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_A191T,Missense_A191T,Missense_A191T exm34807 1 26691637 [C/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_L134V,Missense_L134V,Missense_L134V 1:26691713-GA 1 26691713 [A/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Synonymous_H108H,Synonymous_H108H,Synonymous_H108H 1:26694113-TG 1 26694113 [T/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_Q97P,Missense_Q97P,Missense_Q97P exm34815 1 26694118 [T/G] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_D95E,Missense_D95E,Missense_D95E exm34822 1 26694245 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_H53R,Missense_H53R,Missense_H53R exm34824 1 26694260 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_D48G,Missense_D48G,Missense_D48G exm34827 1 26694968 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_Q32R,Missense_Q32R,Missense_Q32R exm34832 1 26694998 [A/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_G22V,Missense_G22V,Missense_G22V indel.1928 1 26695025 [D/I] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON 1:26695062-TC 1 26695062 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 EXON Missense_M1V,Missense_M1V,Missense_M1V rs11247937 1 26699157 [T/C] NM_001114759,NM_173574,NM_001307925 ZNF683,ZNF683,ZNF683 Silent,Silent,Silent 1:26700780-AG 1 26700780 [A/G] JHU_1.26701258 1 26701259 [T/A] JHU_1.26701307 1 26701308 [A/G] rs11247940 1 26709040 [A/C] rs7529342 1 26709504 [T/C] rs59607484 1 26710799 [T/C] JHU_1.26715763 1 26715764 [A/G] JHU_1.26715871 1 26715872 [A/C] rs79195460 1 26717588 [T/C] rs56078105 1 26718380 [T/C] rs12724751 1 26718448 [A/T] JHU_1.26718531 1 26718532 [A/G] rs11247946 1 26719115 [T/C] rs11587947 1 26719264 [T/C] rs12722898 1 26721287 [A/G] rs74061153 1 26722364 [T/G] rs9438621 1 26722384 [A/G] exm2260105 1 26722384 [A/G] JHU_1.26722996 1 26722997 [T/C] JHU_1.26728417 1 26728418 [T/C] rs79954464 1 26728849 [A/G] JHU_1.26729995 1 26729996 [T/A] JHU_1.26730001 1 26730002 [T/G] JHU_1.26730246 1 26730247 [T/G] JHU_1.26730819 1 26730820 [A/G] JHU_1.26736698 1 26736699 [T/C] exm-rs7532866 1 26741544 [A/G] NM_024674 LIN28A Silent rs7532866 1 26741544 [A/G] NM_024674 LIN28A Silent rs11581294 1 26743678 [T/G] NM_024674 LIN28A Silent rs6683792 1 26743903 [T/C] NM_024674 LIN28A Silent JHU_1.26745273 1 26745274 [C/G] NM_024674 LIN28A Silent 1:26751959-CT 1 26751959 [T/C] NM_024674 LIN28A EXON Missense_R132C rs35015532 1 26752129 [A/G] NM_024674 LIN28A Silent 1:26753942-T-C 1 26753942 [T/C] NM_024674 LIN28A EXON Silent JHU_1.26755918 1 26755919 [A/G] NM_024674 LIN28A EXON Silent JHU_1.26757870 1 26757871 [T/G] JHU_1.26758803 1 26758804 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Silent,Silent,Silent,Silent,Silent ilmnseq_rs147394623_ilmndup2 1 26764719 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_K42E,Missense_K42E,Missense_K42E,Missense_K42E,Silent rs147394623 1 26764719 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_K42E,Missense_K42E,Missense_K42E,Missense_K42E,Silent ilmnseq_rs147394623_ilmndup1 1 26764719 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_K42E,Missense_K42E,Missense_K42E,Missense_K42E,Silent ilmnseq_rs147394623 1 26764719 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_K42E,Missense_K42E,Missense_K42E,Missense_K42E,Silent exm34904 1 26764719 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_K42E,Missense_K42E,Missense_K42E,Missense_K42E,Silent ilmnseq_rs147394623_ilmndup3 1 26764719 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_K42E,Missense_K42E,Missense_K42E,Missense_K42E,Silent exm34905 1 26764735 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_R47Q,Missense_R47Q,Missense_R47Q,Missense_R47Q,Silent rs149949619 1 26764735 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_R47Q,Missense_R47Q,Missense_R47Q,Missense_R47Q,Silent JHU_1.26767045 1 26767046 [G/C] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent,Silent rs147861842 1 26769061 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent,Silent rs115712846 1 26769349 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_R103H,Missense_R103H,Missense_R103H,Missense_R103H,Missense_R10H rs79463384 1 26770786 [A/C] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent,Silent rs114898450 1 26770990 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent,Silent rs11584995 1 26770999 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent,Silent exm1783585 1 26774050 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Synonymous_K147K,Silent,Synonymous_K147K,Synonymous_K108K,Synonymous_K54K 1:26774159-GA 1 26774159 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent,Silent rs9438551 1 26775223 [T/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent,Silent rs3127010 1 26782700 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent,Silent rs3816539 1 26786627 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_V253M,Missense_V219M,Missense_V253M,Missense_V214M,Missense_V160M exm34965 1 26786627 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_V253M,Missense_V219M,Missense_V253M,Missense_V214M,Missense_V160M rs79511711 1 26791806 [T/A] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959,NR_125952,NR_125953 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS,LOC101928324,LOC101928324 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2245071 1 26792358 [T/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959,NR_125952,NR_125953 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS,LOC101928324,LOC101928324 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:26795397-CA 1 26795397 [A/C] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_D260E,Missense_D225E,Missense_D259E,Missense_D220E,Missense_D166E exm34971 1 26795528 [T/C] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_S304L,Missense_S269L,Missense_S303L,Missense_S264L,Missense_S210L 1:26795582-GA 1 26795582 [A/G] NM_024887,NM_001243564,NM_205861,NM_001243565,NM_001319959 DHDDS,DHDDS,DHDDS,DHDDS,DHDDS EXON Missense_R322Q,Missense_R287Q,Missense_R321Q,Missense_R282Q,Missense_R228Q variant.1932 1 26800309 [A/G] NM_005517 HMGN2 Silent rs12741800 1 26802548 [T/C] NM_005517 HMGN2 EXON Silent JHU_1.26803632 1 26803633 [A/G] rs4659375 1 26804090 [A/G] kgp7884818 1 26809402 [A/G] rs12749677 1 26811614 [T/C] rs74061184 1 26825917 [T/G] JHU_1.26832440 1 26832441 [A/C] rs2925524 1 26835742 [T/C] JHU_1.26843219 1 26843220 [A/T] rs11247963 1 26855401 [A/G] JHU_1.26856080 1 26856081 [G/C] rs12057924 1 26856671 [G/C] NM_002953 RPS6KA1 Silent JHU_1.26857284 1 26857285 [G/C] NM_002953 RPS6KA1 Silent rs77010086 1 26860845 [A/G] NM_002953 RPS6KA1 Silent JHU_1.26861280 1 26861281 [T/C] NM_002953 RPS6KA1 Silent exm35011 1 26863453 [T/C] NM_002953 RPS6KA1 EXON Missense_P34L rs10493038 1 26865688 [A/G] NM_002953 RPS6KA1 Silent 1:26869683-GA 1 26869683 [A/G] NM_002953,NM_001330441 RPS6KA1,RPS6KA1 EXON Silent,Missense_E11K 1:26872512-CT 1 26872512 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Silent,Silent,Missense_P41S rs17162190 1 26872832 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent rs76845311 1 26873133 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent rs2278978 1 26873245 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent rs114085285 1 26874259 [A/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent 1:26881173-GA 1 26881173 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_V234I,Missense_V218I,Missense_V243I 1:26882080-CT 1 26882080 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_R294W,Missense_R278W,Missense_R303W rs78317293 1 26882734 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent JHU_1.26883409 1 26883410 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent 1:26883501-CT 1 26883501 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_R332C,Missense_R316C,Missense_R341C exm35062 1 26883511 [A/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_K335T,Missense_K319T,Missense_K344T exm35065 1 26883580 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_R358H,Missense_R342H,Missense_R367H 1:26883840-T-G 1 26883840 [T/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent JHU_1.26886190 1 26886191 [C/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent rs1064196 1 26887592 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Synonymous_Y466Y,Synonymous_Y450Y,Synonymous_Y475Y exm2251154 1 26888016 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Synonymous_H484H,Synonymous_H468H,Synonymous_H493H exm35088 1 26888092 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_R510W,Missense_R494W,Missense_R519W JHU_1.26889316 1 26889317 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent exm35099 1 26898393 [T/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Missense_I602M,Missense_I586M,Missense_I611M rs190737 1 26899444 [A/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent JHU_1.26899522 1 26899523 [C/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent JHU_1.26899670 1 26899671 [C/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 Silent,Silent,Silent rs2229714 1 26900708 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Silent,Silent,Silent 1:26900906-CT 1 26900906 [T/C] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Silent,Silent,Silent 1:26900923-CTT-C 1 26900923 [I/D] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON JHU_1.26901376 1 26901377 [A/G] NM_002953,NM_001330441,NM_001006665 RPS6KA1,RPS6KA1,RPS6KA1 EXON Silent,Silent,Silent rs4970501 1 26904660 [A/G] rs72651549 1 26905236 [A/G] rs59795776 1 26906268 [T/G] JHU_1.26906939 1 26906940 [T/A] exm2251156 1 26909765 [T/C] JHU_1.26909792 1 26909793 [A/G] rs4970508 1 26910684 [T/C] rs79521556 1 26913951 [A/G] JHU_1.26914113 1 26914114 [T/A] rs117869155 1 26917506 [C/G] rs17162247 1 26924308 [A/G] kgp9307817 1 26926993 [T/C] rs79472724 1 26927108 [A/T] rs17162257 1 26929002 [T/G] rs116391184 1 26941151 [A/G] 1:26941213-T-C 1 26941213 [T/C] rs17162276 1 26947393 [T/C] 1:26950010-T-C 1 26950010 [T/C] 1:26953895-G-T 1 26953895 [T/G] JHU_1.26974352 1 26974353 [T/C] JHU_1.26977577 1 26977578 [A/G] rs12129251 1 26981479 [T/C] 1:26990256-A-C 1 26990256 [A/C] rs77596095 1 26991119 [T/C] JHU_1.26993777 1 26993778 [A/C] rs149819675 1 27004021 [T/G] JHU_1.27004259 1 27004260 [A/G] rs77492280 1 27012931 [T/C] rs145612041 1 27013162 [T/A] rs61786484 1 27018500 [T/C] NR_135804 LOC101928728 EXON Silent rs140357585 1 27019409 [T/G] NR_135804 LOC101928728 EXON Silent rs4466675 1 27020012 [T/C] NR_135804 LOC101928728 EXON Silent rs6598860 1 27021684 [A/G] 1:27023186-CT 1 27023186 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P98S,Missense_P98S 1:27023252-CT 1 27023252 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P120S,Missense_P120S seq-rs797045263 1 27023285 [D/I] NM_139135,NM_006015 ARID1A,ARID1A EXON 1:27023393-GA 1 27023393 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A167T,Missense_A167T 1:27023441-GA 1 27023441 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A183T,Missense_A183T 1:27023473-GT 1 27023473 [T/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_E193D,Missense_E193D 1:27023503-CA 1 27023503 [A/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_H203Q,Missense_H203Q 1:27023676-CA 1 27023676 [A/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Nonsense_S261X,Nonsense_S261X 1:27023772-CT 1 27023772 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P293L,Missense_P293L JHU_1.27027323 1 27027324 [T/C] NM_139135,NM_006015 ARID1A,ARID1A Silent,Silent 1:27033042-A-G 1 27033042 [A/G] NM_139135,NM_006015 ARID1A,ARID1A Silent,Silent JHU_1.27042341 1 27042342 [A/C] NM_139135,NM_006015 ARID1A,ARID1A Silent,Silent rs149504769 1 27045266 [A/T] NM_139135,NM_006015 ARID1A,ARID1A Silent,Silent JHU_1.27046981 1 27046982 [A/G] NM_139135,NM_006015 ARID1A,ARID1A Silent,Silent exm35140 1 27056179 [A/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P392H,Missense_P392H 1:27057755-AC 1 27057755 [A/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_Q488P,Missense_Q488P 1:27057788-CT 1 27057788 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_S499L,Missense_S499L rs4970481 1 27068202 [T/C] NM_139135,NM_006015 ARID1A,ARID1A Silent,Silent rs370796314 1 27072606 [A/G] NM_139135,NM_006015 ARID1A,ARID1A Silent,Silent exm35174 1 27087917 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_S735N,Missense_S735N exm35181 1 27088784 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P798L,Missense_P798L chr1_27089634 1 27089634 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_G864S,Missense_G864S exm35196 1 27089659 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_M872T,Missense_M872T exm35201 1 27089742 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A900T,Missense_A900T exm35204 1 27092729 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N917S,Missense_N917S 1:27092737-C-T 1 27092737 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Nonsense_Q920X,Nonsense_Q920X 1:27092793-T-TG 1 27092793 [D/I] NM_139135,NM_006015 ARID1A,ARID1A EXON exm35209 1 27092804 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N942S,Missense_N942S exm2233076 1 27094338 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_G1016S,Missense_G1016S rs117614637 1 27094758 [A/G] NM_139135,NM_006015 ARID1A,ARID1A Silent,Silent exm35217 1 27097653 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N1081S,Missense_N1081S rs79525184 1 27098837 [G/C] NM_139135,NM_006015 ARID1A,ARID1A Silent,Silent exm35219 1 27098992 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Synonymous_A1136A,Synonymous_A1136A exm2233077 1 27099881 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_G1254S,Missense_G1254S exm35249 1 27100142 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N1313S,Missense_N1313S 1:27100207-C-T 1 27100207 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Nonsense_R1335X,Nonsense_R1335X 1:27100369-AG 1 27100369 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_M1361V,Missense_M1361V 1:27101022-AG 1 27101022 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Silent,Missense_Y1435C exm35277 1 27101282 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Silent,Missense_A1522T 1:27101294-GA 1 27101294 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Silent,Missense_V1526M 1:27101408-AC 1 27101408 [A/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Silent,Missense_M1564L 1:27101442-CA 1 27101442 [A/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Silent,Missense_P1575Q exm2233080 1 27101469 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Silent,Missense_Q1584R exm2251168 1 27101584 [G/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Synonymous_A1405A,Synonymous_A1622A exm35293 1 27101597 [C/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P1410A,Missense_P1627A exm35305 1 27102188 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N1488S,Missense_N1705S seq-rs797045264 1 27105527 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_L1496P,Missense_L1713P 1:27105617-CT 1 27105617 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_T1526M,Missense_T1743M exm35308 1 27105655 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P1539S,Missense_P1756S exm1784676 1 27105700 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_P1554S,Missense_P1771S exm35311 1 27105725 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_E1562G,Missense_E1779G exm2233081 1 27105838 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_V1600I,Missense_V1817I rs150534917 1 27105880 [G/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_L1614V,Missense_L1831V exm35318 1 27105880 [G/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_L1614V,Missense_L1831V 1:27105886-CT 1 27105886 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_R1616C,Missense_R1833C exm2233082 1 27106004 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A1655V,Missense_A1872V exm35328 1 27106106 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_R1689Q,Missense_R1906Q seq-rs41303631 1 27106106 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_R1689Q,Missense_R1906Q exm35331 1 27106168 [C/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A1710P,Missense_A1927P exm35333 1 27106333 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_V1765I,Missense_V1982I 1:27106846-CA 1 27106846 [A/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_R1936S,Missense_R2153S 1:27107027-CT 1 27107027 [T/C] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_A1996V,Missense_A2213V 1:27107048-AG 1 27107048 [A/G] NM_139135,NM_006015 ARID1A,ARID1A EXON Missense_N2003S,Missense_N2220S 1:27107162-T-TG 1 27107162 [D/I] NM_139135,NM_006015 ARID1A,ARID1A EXON exm35369 1 27120619 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_I32V,Missense_I32V exm35370 1 27120626 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_P34L,Missense_P34L rs139246652 1 27120626 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_P34L,Missense_P34L exm35373 1 27120671 [A/C] NM_017837,NM_001202554 PIGV,PIGV EXON Nonsense_S49X,Nonsense_S49X exm35378 1 27120874 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_I117V,Missense_I117V rs185641230 1 27120964 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Nonsense_Q147X,Nonsense_Q147X seq-rs387907023 1 27120992 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_C156Y,Missense_C156Y 1:27120992-G-A 1 27120992 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_C156Y,Missense_C156Y exm35385 1 27120998 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_S158N,Missense_S158N variant.1938 1 27121019 [A/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_A165E,Missense_A165E 1:27121291-C-A 1 27121291 [A/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_Q256K,Missense_Q256K 1:27121333-CT 1 27121333 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_R270C,Missense_R270C rs199833588 1 27121469 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_G315D,Missense_G315D rs142884955 1 27121505 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_N327S,Missense_N327S exm35401 1 27121505 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_N327S,Missense_N327S 1:27121531-AG 1 27121531 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_I336V,Missense_I336V ilmnseq_rs139073416 1 27121547 [A/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_A341E,Missense_A341E exm35405 1 27121571 [A/G] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_H349R,Missense_H349R 1:27121679-A-C 1 27121679 [A/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_H385P,Missense_H385P rs267606951 1 27121679 [A/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_H385P,Missense_H385P exm35411 1 27124130 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_P426L,Missense_P426L exm35417 1 27124222 [T/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_L457F,Missense_L457F rs145908648 1 27125281 [T/C] rs12748152 1 27138393 [T/C] exm-rs12748152 1 27138393 [T/C] rs78872924 1 27139583 [T/C] 1:27153609-CA 1 27153609 [A/C] NM_032283 ZDHHC18 EXON Missense_T105N 1:27153611-GT 1 27153611 [T/G] NM_032283 ZDHHC18 EXON Missense_G106C 1:27175227-AC 1 27175227 [A/C] NM_032283 ZDHHC18 EXON Missense_S209R 1:27176861-CT 1 27176861 [T/C] NM_032283 ZDHHC18 EXON Missense_A239V exm35442 1 27176902 [A/G] NM_032283 ZDHHC18 EXON Missense_A253T exm35454 1 27177696 [A/G] NM_032283 ZDHHC18 EXON Missense_A304T variant.1941 1 27177722 [T/C] NM_032283 ZDHHC18 EXON Synonymous_D312D exm35455 1 27177723 [A/G] NM_032283 ZDHHC18 Silent 1:27177907-C-G 1 27177907 [C/G] NM_032283 ZDHHC18 Silent JHU_1.27177924 1 27177925 [A/T] NM_032283 ZDHHC18 Silent JHU_1.27178849 1 27178850 [T/C] NM_032283 ZDHHC18 Silent rs10902645 1 27179062 [T/G] NM_032283 ZDHHC18 Silent exm35457 1 27179274 [T/G] NM_032283 ZDHHC18 EXON Missense_G323C exm35465 1 27180248 [A/G] NM_032283 ZDHHC18 EXON Missense_D361N rs45596631 1 27181490 [A/C] NM_032283 ZDHHC18 EXON Silent rs115750459 1 27181647 [A/G] NM_032283 ZDHHC18 EXON Silent 1:27182698-CT 1 27182698 [T/C] rs10902646 1 27182984 [T/G] JHU_1.27183051 1 27183052 [T/C] chr1_27189714 1 27189714 [T/C] NM_006142 SFN EXON Missense_A4V 1:27190115-TGAC-T 1 27190115 [D/I] NM_006142 SFN EXON exm35479 1 27190149 [T/C] NM_006142 SFN EXON Missense_S149L exm1784809 1 27190186 [G/C] NM_006142 SFN EXON Missense_E161D exm35480 1 27190196 [T/A] NM_006142 SFN EXON Missense_T165S 1:27190203-CT 1 27190203 [T/C] NM_006142 SFN EXON Missense_P167L rs202094692 1 27190208 [C/G] NM_006142 SFN EXON Missense_R169G 1:27190253-GA 1 27190253 [A/G] NM_006142 SFN EXON Missense_A184T 1:27190409-GA 1 27190409 [A/G] NM_006142 SFN EXON Missense_G236R JHU_1.27200547 1 27200548 [A/C] JHU_1.27201931 1 27201932 [C/G] rs139953223 1 27201958 [A/G] exm35496 1 27210667 [T/C] NM_018066 GPN2 EXON Missense_D282N exm35497 1 27210676 [T/C] NM_018066 GPN2 EXON Missense_M279V newrs149255985 1 27210706 [A/G] NM_018066 GPN2 EXON Nonsense_R269X 1:27210721-TC 1 27210721 [T/C] NM_018066 GPN2 EXON Missense_R264G rs78109142 1 27210722 [A/G] NM_018066 GPN2 EXON Synonymous_F263F exm35504 1 27210762 [T/C] NM_018066 GPN2 EXON Missense_R250Q rs187131037 1 27212418 [A/G] NM_018066 GPN2 Silent exm35509 1 27212513 [T/C] NM_018066 GPN2 EXON Missense_Q227R exm35520 1 27215478 [T/C] NM_018066 GPN2 EXON Missense_E184K exm35525 1 27216194 [T/C] NM_018066 GPN2 EXON Missense_A132T exm35527 1 27216278 [T/C] NM_018066 GPN2 EXON Missense_G104S chr1_27216430 1 27216430 [A/G] NM_018066 GPN2 EXON Missense_P53L 1:27217636-CAT-C 1 27217636 [I/D] NM_022078 GPATCH3 EXON 1:27218944-AG 1 27218944 [A/G] NM_022078 GPATCH3 EXON Missense_L440P exm1785012 1 27219019 [T/C] NM_022078 GPATCH3 EXON Missense_R415Q 1:27219026-TC 1 27219026 [T/C] NM_022078 GPATCH3 EXON Missense_I413V exm35569 1 27219192 [T/C] NM_022078 GPATCH3 EXON Missense_R401H chr1_27219193 1 27219193 [T/G] NM_022078 GPATCH3 EXON Missense_R401S exm35570 1 27219196 [T/C] NM_022078 GPATCH3 EXON Missense_E400K variant.1948 1 27219880 [T/C] NM_022078 GPATCH3 EXON Missense_D371N rs11810321 1 27220521 [T/G] NM_022078 GPATCH3 Silent 1:27220769-CA 1 27220769 [A/C] NM_022078 GPATCH3 EXON Missense_V337L 1:27220812-CA 1 27220812 [A/C] NM_022078 GPATCH3 EXON Missense_E322D exm35579 1 27220834 [T/C] NM_022078 GPATCH3 EXON Missense_R315Q exm35580 1 27220844 [T/C] NM_022078 GPATCH3 EXON Missense_G312R exm35582 1 27220864 [A/G] NM_022078 GPATCH3 EXON Missense_A305V exm35583 1 27220873 [A/C] NM_022078 GPATCH3 EXON Missense_R302L newrs148453803 1 27223792 [T/C] NM_022078 GPATCH3 EXON Synonymous_E292E exm35585 1 27223792 [T/C] NM_022078 GPATCH3 EXON Synonymous_E292E exm2233087 1 27223826 [T/C] NM_022078 GPATCH3 EXON Missense_G281E exm35593 1 27223977 [A/G] NM_022078 GPATCH3 EXON Missense_R231C 1:27224069-CT 1 27224069 [T/C] NM_022078 GPATCH3 EXON Missense_R200Q exm35601 1 27224070 [A/G] NM_022078 GPATCH3 EXON Missense_R200W exm35603 1 27224123 [A/G] NM_022078 GPATCH3 EXON Missense_P182L exm35606 1 27224190 [A/G] NM_022078 GPATCH3 EXON Missense_R160W JHU_1.27224723 1 27224724 [C/G] NM_022078 GPATCH3 Silent 1:27226564-GA 1 27226564 [A/G] NM_022078 GPATCH3 EXON Missense_R124C exm35611 1 27226569 [A/G] NM_022078 GPATCH3 EXON Missense_S122L 1:27226585-GA 1 27226585 [A/G] NM_022078 GPATCH3 EXON Missense_L117F 1:27226687-CT 1 27226687 [T/C] NM_022078 GPATCH3 EXON Missense_A83T 1:27226707-TC 1 27226707 [T/C] NM_022078 GPATCH3 EXON Missense_Q76R exm35620 1 27226797 [C/G] NM_022078 GPATCH3 EXON Missense_C46S exm35621 1 27226817 [G/C] NM_022078 GPATCH3 EXON Missense_E39D 1:27226821-TC 1 27226821 [T/C] NM_022078 GPATCH3 EXON Missense_E38G 1:27226867-CT 1 27226867 [T/C] NM_022078 GPATCH3 EXON Missense_V23M exm35628 1 27226912 [A/C] NM_022078 GPATCH3 EXON Nonsense_E8X 1:27226921-CT 1 27226921 [T/C] NM_022078 GPATCH3 EXON Missense_G5S exm35633 1 27238451 [A/G] NM_021969 NR0B2 EXON Missense_T220M 1:27238463-CT 1 27238463 [T/C] NM_021969 NR0B2 EXON Missense_R216H Variant48232 1 27238473 [A/G] NM_021969 NR0B2 EXON Missense_R213C Variant48233 1 27238492 [T/C] NM_021969 NR0B2 EXON Nonsense_W206X exm1785102 1 27238544 [T/C] NM_021969 NR0B2 EXON Missense_G189E exm35641 1 27238557 [T/C] NM_021969 NR0B2 EXON Missense_A185T exm35644 1 27239920 [G/C] NM_021969 NR0B2 EXON Missense_G171A exm35648 1 27239959 [T/C] NM_021969 NR0B2 EXON Missense_S158N rs151014108 1 27239959 [T/C] NM_021969 NR0B2 EXON Missense_S158N rs150160927 1 27240167 [A/G] NM_021969 NR0B2 EXON Nonsense_Q89X 1:27240175-CT 1 27240175 [T/C] NM_021969 NR0B2 EXON Missense_R86Q exm35664 1 27240262 [T/C] NM_021969 NR0B2 EXON Missense_R57Q Variant48235 1 27240263 [A/G] NM_021969 NR0B2 EXON Missense_R57W Variant48236 1 27240265 [T/C] NM_021969 NR0B2 EXON Missense_C56Y Variant12352 1 27240266 [D/I] NM_021969 NR0B2 EXON exm35665 1 27240272 [A/G] NM_021969 NR0B2 EXON Missense_R54C rs200354158 1 27240293 [T/C] NM_021969 NR0B2 EXON Missense_V47I exm35668 1 27240298 [T/C] NM_021969 NR0B2 EXON Missense_R45Q 1:27240326-GA 1 27240326 [A/G] NM_021969 NR0B2 EXON Missense_R36C exm35673 1 27240419 [C/G] NM_021969 NR0B2 EXON Missense_Q5E rs371774216 1 27240741 [T/G] JHU_1.27241951 1 27241952 [A/G] chr1_27248410 1 27248410 [A/G] NM_006600 NUDC EXON Missense_G24D exm35682 1 27250580 [G/C] NM_006600 NUDC EXON Missense_L28V JHU_1.27256903 1 27256904 [T/C] NM_006600 NUDC Silent rs17162345 1 27266402 [A/G] NM_006600 NUDC Silent rs17162351 1 27267042 [T/G] NM_006600 NUDC Silent exm1785175 1 27267996 [C/G] NM_006600 NUDC EXON Missense_R70G 1:27268000-GA 1 27268000 [A/G] NM_006600 NUDC EXON Missense_R71Q 1:27268047-CT 1 27268047 [T/C] NM_006600 NUDC EXON Missense_R87W exm2251177 1 27268282 [T/C] NM_006600 NUDC EXON Synonymous_N134N exm35700 1 27268299 [T/C] NM_006600 NUDC EXON Missense_P140L 1:27269157-TGAGGAAGATGAG-T 1 27269157 [D/I] NM_006600 NUDC EXON 1:27269164-AG 1 27269164 [A/G] NM_006600 NUDC EXON Missense_D148G 1:27269413-GA 1 27269413 [A/G] NM_006600 NUDC EXON Missense_V200M exm35711 1 27269429 [A/G] NM_006600 NUDC EXON Missense_R205Q Variant48240 1 27272069 [T/C] NM_006600 NUDC EXON Missense_L279P exm35724 1 27272638 [T/C] NM_006600 NUDC EXON Missense_P321L rs78054737 1 27274730 [T/C] exm35728 1 27276604 [T/C] NM_152365 KDF1 EXON Missense_D385N exm35731 1 27276619 [A/G] NM_152365 KDF1 EXON Missense_S380P 1:27276637-GA 1 27276637 [A/G] NM_152365 KDF1 EXON Missense_P374S exm35738 1 27277916 [T/C] NM_152365 KDF1 EXON Missense_R319H variant.1966 1 27278168 [A/G] NM_152365 KDF1 EXON Missense_S235L exm35746 1 27278215 [T/G] NM_152365 KDF1 EXON Missense_F219L 1:27278259-TC 1 27278259 [T/C] NM_152365 KDF1 EXON Missense_T205A exm35757 1 27278306 [T/C] NM_152365 KDF1 EXON Missense_K189R exm35762 1 27278439 [A/G] NM_152365 KDF1 EXON Missense_R145W rs3010110 1 27278521 [A/G] NM_152365 KDF1 EXON Synonymous_D117D exm35768 1 27278552 [T/C] NM_152365 KDF1 EXON Missense_R107Q exm35771 1 27278570 [T/C] NM_152365 KDF1 EXON Missense_R101H exm35772 1 27278573 [T/C] NM_152365 KDF1 EXON Missense_Q100R exm35777 1 27278612 [T/C] NM_152365 KDF1 EXON Missense_R87Q exm35778 1 27278613 [A/G] NM_152365 KDF1 EXON Missense_R87W exm35780 1 27278672 [A/G] NM_152365 KDF1 EXON Missense_P67L 1:27278810-CT 1 27278810 [T/C] NM_152365 KDF1 EXON Missense_R21Q exm35789 1 27278819 [A/G] NM_152365 KDF1 EXON Missense_P18L rs17356923 1 27282676 [A/G] NM_152365 KDF1 Silent rs12742376 1 27285195 [T/C] NM_152365 KDF1 Silent JHU_1.27291309 1 27291310 [A/C] JHU_1.27300267 1 27300268 [T/C] JHU_1.27303546 1 27303547 [A/C] JHU_1.27303720 1 27303721 [T/C] JHU_1.27308317 1 27308318 [A/G] JHU_1.27319884 1 27319885 [A/G] JHU_1.27320068 1 27320069 [A/G] rs148350527 1 27324985 [T/G] NM_001013642 TRNP1 Silent 1:27332452-AG 1 27332452 [A/G] NM_052943 TENT5B EXON Missense_W421R exm35805 1 27332466 [T/C] NM_052943 TENT5B EXON Missense_H416R exm2251179 1 27332504 [T/G] NM_052943 TENT5B EXON Synonymous_V403V exm35815 1 27332637 [T/G] NM_052943 TENT5B EXON Missense_N359T exm35816 1 27332670 [T/C] NM_052943 TENT5B EXON Missense_R348Q exm35817 1 27332701 [A/G] NM_052943 TENT5B EXON Missense_R338C 1:27332824-CT 1 27332824 [T/C] NM_052943 TENT5B EXON Missense_D297N 1:27332907-CT 1 27332907 [T/C] NM_052943 TENT5B EXON Missense_R269H exm35831 1 27332983 [T/C] NM_052943 TENT5B EXON Missense_T244A exm35842 1 27333229 [T/C] NM_052943 TENT5B EXON Missense_A162T exm35846 1 27333309 [T/C] NM_052943 TENT5B EXON Missense_R135H exm35848 1 27333409 [C/G] NM_052943 TENT5B EXON Missense_H102D 1:27338986-CA 1 27338986 [A/C] NM_052943 TENT5B EXON Missense_R59L rs3010100 1 27353389 [A/C] JHU_1.27354337 1 27354338 [A/G] rs72651570 1 27358290 [T/C] JHU_1.27358371 1 27358372 [T/C] rs2993066 1 27358792 [T/C] JHU_1.27361616 1 27361617 [A/G] JHU_1.27363002 1 27363003 [A/G] JHU_1.27363782 1 27363783 [A/G] JHU_1.27372699 1 27372700 [G/C] rs568533 1 27372924 [T/G] rs113607012 1 27373312 [T/C] rs537951 1 27374218 [A/G] rs479067 1 27375997 [T/C] kgp172599 1 27377401 [A/G] JHU_1.27379376 1 27379377 [A/G] rs12073209 1 27381612 [T/G] JHU_1.27383539 1 27383540 [A/C] rs56131631 1 27384409 [A/T] rs11805964 1 27384835 [T/C] JHU_1.27387657 1 27387658 [T/C] rs12742796 1 27388485 [T/G] rs115402134 1 27394963 [T/C] JHU_1.27399027 1 27399028 [T/A] JHU_1.27403401 1 27403402 [G/C] rs6598869 1 27410653 [G/C] rs114789648 1 27414317 [A/G] rs186820791 1 27416075 [T/C] JHU_1.27418017 1 27418018 [T/A] rs11801206 1 27419332 [T/C] rs186023017 1 27422589 [T/C] rs5810 1 27426219 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Silent exm35863 1 27426875 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_I791V 1:27426889-GA 1 27426889 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_P786L 1:27426923-CT 1 27426923 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_D775N 1:27426953-GA 1 27426953 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_R765W exm35867 1 27426971 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_D759N exm35869 1 27426974 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_D758N exm35872 1 27427009 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_R746Q 1:27427718-TC 1 27427718 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_M696V 1:27428547-CT 1 27428547 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_R632H exm2251185 1 27428971 [C/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Synonymous_A575A 1:27429041-CA 1 27429041 [A/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_R552L 1:27432302-GA 1 27432302 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent 1:27434173-GT 1 27434173 [T/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_S416R 1:27434331-GA 1 27434331 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_R364C 1:27436136-CT 1 27436136 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_A316T exm35939 1 27436163 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_L307F 1:27436185-CGAA-C 1 27436185 [I/D] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON exm35942 1 27436223 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_G287S rs201506145 1 27440499 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_V211M rs71638510 1 27449900 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent rs139750278 1 27450461 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent rs79512596 1 27450740 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent rs145003489 1 27450758 [A/C] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent JHU_1.27451205 1 27451206 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent rs80336120 1 27452615 [C/G] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent JHU_1.27460795 1 27460796 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent rs72653231 1 27465156 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent JHU_1.27476263 1 27476264 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent rs6696706 1 27477549 [T/C] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent rs115265123 1 27478651 [G/C] NR_046474,NM_003047 SLC9A1,SLC9A1 Silent,Silent 1:27480488-CA 1 27480488 [A/C] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_C113F exm35968 1 27480600 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_H76Y 1:27480623-GA 1 27480623 [A/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Missense_T68I 1:27481000-G-T 1 27481000 [T/G] NR_046474,NM_003047 SLC9A1,SLC9A1 EXON Silent,Silent JHU_1.27481730 1 27481731 [A/G] JHU_1.27486607 1 27486608 [A/G] rs12402451 1 27488299 [T/C] rs34783584 1 27489958 [T/C] JHU_1.27492657 1 27492658 [T/C] JHU_1.27493495 1 27493496 [T/C] rs12751422 1 27493679 [T/C] rs74694074 1 27495700 [T/C] rs12753649 1 27520865 [T/C] rs117514890 1 27522443 [T/C] rs72880863 1 27529824 [T/C] rs6687674 1 27537101 [A/G] rs79289466 1 27543918 [T/C] rs113066271 1 27549556 [T/C] rs10902652 1 27558522 [T/C] JHU_1.27559873 1 27559874 [A/C] JHU_1.27561858 1 27561859 [G/C] NM_015023,NM_001276252 WDTC1,WDTC1 Silent,Silent rs143069208 1 27569604 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 Silent,Silent rs113430560 1 27570323 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 Silent,Silent rs78978973 1 27581564 [T/G] NM_015023,NM_001276252 WDTC1,WDTC1 Silent,Silent rs6598879 1 27586900 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 Silent,Silent exm35980 1 27589698 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_R35Q,Missense_R35Q 1:27593176-T-C 1 27593176 [T/C] NM_015023,NM_001276252 WDTC1,WDTC1 Silent,Silent exm35994 1 27614187 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_R105H,Missense_R105H 1:27614331-CA 1 27614331 [A/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_A153D,Missense_A153D 1:27614763-A-T 1 27614763 [T/A] NM_015023,NM_001276252 WDTC1,WDTC1 Silent,Silent JHU_1.27619939 1 27619940 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 Silent,Silent exm36012 1 27621022 [A/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_L259I,Missense_L259I 1:27621077-GA 1 27621077 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_S277N,Missense_S277N 1:27621107-T-TG 1 27621107 [D/I] NM_015023,NM_001276252 WDTC1,WDTC1 EXON exm36016 1 27622832 [T/A] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_L297M,Missense_L297M 1:27622848-GA 1 27622848 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_R302Q,Missense_R302Q 1:27624491-CT 1 27624491 [T/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_A373V,Missense_A374V exm36041 1 27627950 [G/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_G488A,Missense_G489A JHU_1.27628544 1 27628545 [T/C] NM_015023,NM_001276252 WDTC1,WDTC1 Silent,Silent exm36048 1 27630135 [A/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_G497S,Missense_G498S exm36051 1 27630147 [T/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_R501C,Missense_R502C 1:27631535-TC 1 27631535 [T/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_F562L,Missense_F563L exm36065 1 27632690 [C/G] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Missense_T616R,Missense_T617R rs41291072 1 27633956 [T/C] NM_015023,NM_001276252 WDTC1,WDTC1 EXON Silent,Silent exm36078 1 27648785 [A/G] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_D33N 1:27648824-GT 1 27648824 [T/G] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_D46Y 1:27648873-CA 1 27648873 [A/C] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_P62Q rs140681932 1 27649135 [T/C] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 Silent,Silent,Silent,Silent rs115488099 1 27651951 [T/C] NR_037580,NR_037576,NR_037577,NM_032125,NR_033926 TMEM222,TMEM222,TMEM222,TMEM222,ACTG1P20 EXON Silent,Silent,Silent,Silent,Silent exm36086 1 27660486 [A/G] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_G117R 1:27660699-CT 1 27660699 [T/C] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_R156C exm36095 1 27660742 [T/G] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_F170C exm36097 1 27660768 [A/G] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_V179I rs12565684 1 27661037 [T/C] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 Silent,Silent,Silent,Silent exm36106 1 27661931 [A/G] NR_037580,NR_037576,NR_037577,NM_032125 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Silent,Missense_V201I rs74061768 1 27666001 [A/G] 1:27671896-CT 1 27671896 [T/C] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_P24L,Missense_P24L 1:27671973-CA 1 27671973 [A/C] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_Q50K,Missense_Q50K exm36120 1 27673983 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_R88H,Missense_R88H exm36121 1 27674003 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_A95T,Missense_A95T exm1785769 1 27674319 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_D121N,Missense_D121N exm36133 1 27674334 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_A126T,Missense_A126T exm36135 1 27674366 [T/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_E136D,Missense_E136D 1:27674490-TG 1 27674490 [T/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_L149R,Missense_L149R 1:27675590-CT 1 27675590 [T/C] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Silent,Missense_P160L 1:27676194-GA 1 27676194 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_D217N,Missense_D229N exm1785790 1 27677375 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_E354K,Missense_E366K exm36170 1 27677409 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_G365D,Missense_G377D 1:27677782-GT 1 27677782 [T/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_G388W,Missense_G400W 1:27677815-GA 1 27677815 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_A399T,Missense_A411T rs11247639 1 27679692 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 Silent,Silent exm36182 1 27679778 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_V438M,Missense_V450M exm2273628 1 27679805 [T/C] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_R447C,Missense_R459C 1:27679836-TC 1 27679836 [T/C] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_L457P,Missense_L469P 1:27679884-CA 1 27679884 [A/C] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_A473D,Missense_A485D exm36189 1 27679890 [T/C] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_L475P,Missense_L487P 1:27679943-CT 1 27679943 [T/C] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_R493C,Missense_R505C exm36193 1 27679979 [A/G] NM_032872,NM_001193308 SYTL1,SYTL1 EXON Missense_G505S,Missense_G517S 1:27682217-GA 1 27682217 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_T1244I,Missense_T1236I exm36225 1 27682530 [G/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_G1233A,Missense_G1225A 1:27682986-CT 1 27682986 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R1177H,Missense_R1169H exm36238 1 27683127 [A/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_A1160S,Missense_A1152S 1:27683130-GA 1 27683130 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_P1159S,Missense_P1151S exm36243 1 27683180 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_Q1142R,Missense_Q1134R 1:27683230-CCTT-C 1 27683230 [I/D] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON exm36261 1 27684006 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_H1048R,Missense_H1040R exm36267 1 27684213 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_K1024E,Missense_K1016E exm36274 1 27684338 [C/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_P982R,Missense_P974R exm1785842 1 27684715 [T/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_P958T,Missense_P950T exm36282 1 27684750 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_P946L,Missense_P938L chr1_27684756 1 27684756 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_T944I,Missense_T936I exm36284 1 27684772 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_T939A,Missense_T931A exm36292 1 27684948 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R913H,Missense_R905H 1:27685075-TC 1 27685075 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_M871V,Missense_M863V 1:27685959-CT 1 27685959 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_G792S,Missense_G784S rs199773217 1 27685964 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_D790G,Missense_D782G exm36323 1 27686464 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R735Q,Missense_R727Q 1:27686775-GT 1 27686775 [T/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_S713R,Missense_S705R rs78084677 1 27687065 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 Silent,Silent rs150814911 1 27687101 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 Silent,Silent exm36334 1 27687248 [G/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R668G,Missense_R660G exm36338 1 27687309 [G/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_E647D,Missense_E639D exm36344 1 27687466 [T/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_N622K,Missense_N614K 1:27687696-GA 1 27687696 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_P595L,Missense_P587L 1:27688010-CT 1 27688010 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 Silent,Silent exm36363 1 27688031 [C/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_L556V,Missense_L548V exm36370 1 27688279 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R499C,Missense_R491C 1:27688311-CT 1 27688311 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R488K,Missense_R480K exm36377 1 27688593 [T/A] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_N468K,Missense_N460K exm36378 1 27688633 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_T455I,Missense_T447I exm1785874 1 27688717 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_A427V,Missense_A419V rs55841735 1 27688743 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 Silent,Silent exm36384 1 27688743 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 Silent,Silent chr1_27688743 1 27688743 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 Silent,Silent exm36387 1 27689225 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_V388I,Missense_V380I rs150334965 1 27689360 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R375Q,Missense_R367Q exm36390 1 27689360 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R375Q,Missense_R367Q exm36394 1 27689397 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_M363V,Missense_M355V 1:27689447-CT 1 27689447 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_G346D,Missense_G338D exm2251194 1 27689476 [A/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Synonymous_S336S,Synonymous_S328S 1:27689487-TG 1 27689487 [T/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_K333Q,Missense_K325Q rs4525067 1 27689763 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 Silent,Silent exm36405 1 27690032 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_S291L,Missense_S283L exm36411 1 27690482 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R264W,Missense_R256W 1:27690541-CT 1 27690541 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R244Q,Missense_R236Q rs192258228 1 27690735 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R219W,Missense_R211W exm36420 1 27690770 [A/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_V207G,Missense_V199G rs41291098 1 27690792 [A/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_D200Y,Missense_D192Y exm36422 1 27690792 [A/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_D200Y,Missense_D192Y 1:27690804-GA 1 27690804 [A/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_R196W,Missense_R188W rs187782003 1 27690866 [T/G] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_T175K,Missense_T167K exm36427 1 27691274 [T/C] NM_004672,NM_001297609 MAP3K6,MAP3K6 EXON Missense_Q157R,Missense_Q157R rs58337722 1 27694362 [T/G] exm36447 1 27695744 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_R284W,Missense_R295W 1:27695752-CT 1 27695752 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_R281H,Missense_R292H exm36450 1 27695767 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_V276A,Missense_V287A 1:27695836-TC 1 27695836 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_N253S,Missense_N264S newrs138304758 1 27695865 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Nonsense_W243X,Nonsense_W254X rs72882747 1 27696101 [A/C] NM_173452,NM_003665 FCN3,FCN3 Silent,Silent 1:27697141-CT 1 27697141 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_G191S,Missense_G202S 1:27697177-GA 1 27697177 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_R179C,Missense_R190C exm36472 1 27697359 [C/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_E155D,Missense_E166D 1:27697417-CA 1 27697417 [A/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_W136L,Missense_W147L rs138940198 1 27697425 [G/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_F133L,Missense_F144L exm36475 1 27697425 [G/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_F133L,Missense_F144L exm36476 1 27697444 [A/T] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_D127V,Missense_D138V JHU_1.27697473 1 27697474 [C/G] NM_173452,NM_003665 FCN3,FCN3 Silent,Silent JHU_1.27699448 1 27699449 [A/T] NM_173452,NM_003665 FCN3,FCN3 Silent,Silent exm36480 1 27699626 [T/C] NM_173452,NM_003665 FCN3,FCN3 Silent,Silent 1:27699635-CT 1 27699635 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_G118S,Missense_G129S exm36484 1 27699644 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_E115K,Missense_E126K exm36486 1 27699647 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_T114A,Missense_T125A 1:27699671-AG-A 1 27699671 [D/I] NM_173452,NM_003665 FCN3,FCN3 EXON exm36491 1 27699753 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Synonymous_G78G,Synonymous_G89G exm36498 1 27699991 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Silent,Missense_R85W 1:27700281-C-T 1 27700281 [T/C] NM_173452,NM_003665 FCN3,FCN3 Silent,Silent rs141300199 1 27700455 [T/C] NM_173452,NM_003665 FCN3,FCN3 Silent,Silent 1:27700470-GA 1 27700470 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_P73L,Missense_P73L 1:27700910-GA 1 27700910 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_L42F,Missense_L42F exm36506 1 27700924 [T/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_A37D,Missense_A37D 1:27701247-TCAGG-T 1 27701247 [I/D] NM_173452,NM_003665 FCN3,FCN3 EXON rs4134410 1 27703045 [A/G] 1:27706640-GT 1 27706640 [T/G] NM_207397,NM_001330448 CD164L2,CD164L2 EXON Missense_A140D,Missense_A140D 1:27708731-CT 1 27708731 [T/C] NM_207397,NM_001330448 CD164L2,CD164L2 Silent,Silent 1:27708883-CT 1 27708883 [T/C] NM_207397,NM_001330448 CD164L2,CD164L2 EXON Missense_C88Y,Missense_C88Y exm36532 1 27708996 [T/C] NM_207397,NM_001330448 CD164L2,CD164L2 EXON Missense_E84K,Missense_E84K exm36534 1 27709020 [T/C] NM_207397,NM_001330448 CD164L2,CD164L2 EXON Missense_M76V,Missense_M76V exm36536 1 27709044 [T/C] NM_207397,NM_001330448 CD164L2,CD164L2 EXON Missense_R68G,Missense_R68G exm36541 1 27709112 [T/C] NM_207397,NM_001330448 CD164L2,CD164L2 EXON Missense_N45S,Missense_N45S rs12028549 1 27713733 [T/C] rs11586015 1 27720353 [A/C] NM_005281 GPR3 EXON Synonymous_G17G exm36551 1 27720382 [G/C] NM_005281 GPR3 EXON Missense_A27G 1:27720426-GT 1 27720426 [T/G] NM_005281 GPR3 EXON Missense_A42S 1:27720552-GA 1 27720552 [A/G] NM_005281 GPR3 EXON Missense_V84M 1:27720955-GA 1 27720955 [A/G] NM_005281 GPR3 EXON Missense_R218H exm36580 1 27721035 [A/G] NM_005281 GPR3 EXON Missense_G245S 1:27721119-CA 1 27721119 [A/C] NM_005281 GPR3 EXON Missense_H273N exm36592 1 27721276 [A/G] NM_005281 GPR3 EXON Missense_R325H rs1018479 1 27726600 [A/G] rs72882766 1 27727507 [A/G] JHU_1.27730088 1 27730089 [A/T] JHU_1.27730773 1 27730774 [A/G] NM_006990,NM_001201404 WASF2,WASF2 EXON Silent,Silent rs11548323 1 27731651 [T/C] NM_006990,NM_001201404 WASF2,WASF2 EXON Silent,Silent 1:27734793-CT 1 27734793 [T/C] NM_006990,NM_001201404 WASF2,WASF2 EXON Missense_D463N,Silent 1:27736269-GA 1 27736269 [A/G] NM_006990,NM_001201404 WASF2,WASF2 EXON Missense_P419L,Silent 1:27736377-AG 1 27736377 [A/G] NM_006990,NM_001201404 WASF2,WASF2 EXON Missense_L383S,Silent exm36614 1 27736685 [T/G] NM_006990,NM_001201404 WASF2,WASF2 EXON Missense_N280K,Silent 1:27739120-GA 1 27739120 [A/G] NM_006990,NM_001201404 WASF2,WASF2 EXON Missense_S257L,Missense_S257L exm36622 1 27739150 [A/G] NM_006990,NM_001201404 WASF2,WASF2 EXON Missense_P247L,Missense_P247L rs12048144 1 27739469 [T/C] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent JHU_1.27741070 1 27741071 [T/G] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent rs35817310 1 27741071 [T/G] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent indel.2016 1 27744776 [D/I] NM_006990,NM_001201404 WASF2,WASF2 EXON rs145055816 1 27745142 [T/C] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent var_1_27745455 1 27745455 [T/C] NM_006990,NM_001201404 WASF2,WASF2 EXON Missense_V89M,Missense_V89M 1:27745530-GA 1 27745530 [A/G] NM_006990,NM_001201404 WASF2,WASF2 EXON Missense_R64W,Missense_R64W rs116210266 1 27752745 [C/G] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent rs77761577 1 27754169 [T/C] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent 1:27755539-G-C 1 27755539 [G/C] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent JHU_1.27758762 1 27758763 [T/C] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent JHU_1.27764939 1 27764940 [T/C] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent rs2474301 1 27773902 [A/G] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent rs7531313 1 27782390 [T/C] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent rs78639120 1 27782906 [A/G] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent rs6668823 1 27786813 [A/G] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent JHU_1.27795494 1 27795495 [C/G] NM_006990,NM_001201404 WASF2,WASF2 Silent,Silent JHU_1.27816950 1 27816951 [A/C] JHU_1.27819951 1 27819952 [A/G] JHU_1.27820008 1 27820009 [C/G] rs79612109 1 27821799 [T/C] JHU_1.27825641 1 27825642 [C/G] rs4075401 1 27836014 [T/G] rs113571009 1 27840346 [T/C] rs9438587 1 27840480 [A/G] rs59180873 1 27848634 [A/G] rs76591287 1 27849569 [T/G] rs4373782 1 27849938 [T/C] rs74397217 1 27854075 [T/A] JHU_1.27854074 1 27854075 [T/A] JHU_1.27855192 1 27855193 [T/C] rs7512595 1 27857171 [A/G] JHU_1.27860769 1 27860770 [T/G] NM_001029882 AHDC1 EXON Silent rs138012132 1 27860948 [G/C] NM_001029882 AHDC1 EXON Silent 1:27866286-C-G 1 27866286 [C/G] NM_001029882 AHDC1 Silent rs79148897 1 27871003 [A/G] NM_001029882 AHDC1 Silent 1:27871315-C-T 1 27871315 [T/C] NM_001029882 AHDC1 Silent 1:27873829-CT 1 27873829 [T/C] NM_001029882 AHDC1 EXON Missense_V1600I exm36651 1 27873895 [T/C] NM_001029882 AHDC1 EXON Missense_G1578S exm36662 1 27874042 [A/G] NM_001029882 AHDC1 EXON Missense_R1529C 1:27874243-TG 1 27874243 [T/G] NM_001029882 AHDC1 EXON Missense_K1462Q 1:27874449-CT 1 27874449 [T/C] NM_001029882 AHDC1 EXON Missense_G1393D 1:27874606-AC 1 27874606 [A/C] NM_001029882 AHDC1 EXON Missense_C1341G rs111941243 1 27874606 [A/C] NM_001029882 AHDC1 EXON Missense_C1341G 1:27874624-CT 1 27874624 [T/C] NM_001029882 AHDC1 EXON Missense_V1335M exm36696 1 27874627 [T/C] NM_001029882 AHDC1 EXON Missense_G1334S seq-rs796065041 1 27874818 [I/D] NM_001029882 AHDC1 EXON exm36707 1 27874861 [T/C] NM_001029882 AHDC1 EXON Missense_A1256T chr1_27875001 1 27875001 [T/C] NM_001029882 AHDC1 EXON Missense_N1209S exm36715 1 27875055 [T/C] NM_001029882 AHDC1 EXON Missense_S1191N exm36719 1 27875208 [T/C] NM_001029882 AHDC1 EXON Missense_N1140S 1:27875260-CT 1 27875260 [T/C] NM_001029882 AHDC1 EXON Missense_A1123T exm36724 1 27875301 [A/G] NM_001029882 AHDC1 EXON Missense_P1109L exm36726 1 27875319 [A/G] NM_001029882 AHDC1 EXON Missense_A1103V 1:27875371-AC 1 27875371 [A/C] NM_001029882 AHDC1 EXON Missense_S1086A 1:27875385-TGCAGAGGTG-T 1 27875385 [D/I] NM_001029882 AHDC1 EXON 1:27875430-CA 1 27875430 [A/C] NM_001029882 AHDC1 EXON Missense_G1066V 1:27875463-CT 1 27875463 [T/C] NM_001029882 AHDC1 EXON Missense_R1055H 1:27875518-AAGG-A 1 27875518 [I/D] NM_001029882 AHDC1 EXON 1:27875616-CT 1 27875616 [T/C] NM_001029882 AHDC1 EXON Missense_S1004N ilmnseq_rs587779767 1 27875729 [D/I] NM_001029882 AHDC1 EXON exm36747 1 27875800 [T/G] NM_001029882 AHDC1 EXON Missense_T943P exm36748 1 27875824 [T/C] NM_001029882 AHDC1 EXON Missense_A935T seq-rs796065043 1 27876082 [I/D] NM_001029882 AHDC1 EXON exm36765 1 27876189 [T/C] NM_001029882 AHDC1 EXON Missense_R813H rs138299564 1 27876189 [T/C] NM_001029882 AHDC1 EXON Missense_R813H seq-rs587779766 1 27876253 [I/D] NM_001029882 AHDC1 EXON ilmnseq_rs587779766 1 27876253 [I/D] NM_001029882 AHDC1 EXON rs201595662 1 27876445 [A/G] NM_001029882 AHDC1 EXON Missense_R728W 1:27876643-CT 1 27876643 [T/C] NM_001029882 AHDC1 EXON Missense_V662M seq-rs796065040 1 27876746 [D/I] NM_001029882 AHDC1 EXON rs143794200 1 27877019 [A/G] NM_001029882 AHDC1 EXON Synonymous_P536P exm36804 1 27877117 [T/C] NM_001029882 AHDC1 EXON Missense_V504M rs143346525 1 27877117 [T/C] NM_001029882 AHDC1 EXON Missense_V504M rs796065039 1 27877147 [A/T] NM_001029882 AHDC1 EXON Nonsense_K494X 1:27877180-CT 1 27877180 [T/C] NM_001029882 AHDC1 EXON Missense_V483I rs147276945 1 27877216 [T/C] NM_001029882 AHDC1 EXON Missense_V471M exm36808 1 27877216 [T/C] NM_001029882 AHDC1 EXON Missense_V471M 1:27877236-CT 1 27877236 [T/C] NM_001029882 AHDC1 EXON Missense_R464H 1:27877303-CA 1 27877303 [A/C] NM_001029882 AHDC1 EXON Missense_G442C 1:27877431-GA 1 27877431 [A/G] NM_001029882 AHDC1 EXON Missense_A399V exm36821 1 27877471 [T/G] NM_001029882 AHDC1 EXON Missense_R386S 1:27877473-CA 1 27877473 [A/C] NM_001029882 AHDC1 EXON Missense_R385L exm36837 1 27877840 [T/C] NM_001029882 AHDC1 EXON Missense_A263T rs200091801 1 27878070 [A/G] NM_001029882 AHDC1 EXON Missense_P186L JHU_1.27878143 1 27878144 [A/G] NM_001029882 AHDC1 EXON Synonymous_G161G 1:27878527-T-TG 1 27878527 [D/I] NM_001029882 AHDC1 EXON kgp2605509 1 27883227 [T/C] NM_001029882 AHDC1 Silent JHU_1.27886712 1 27886713 [T/G] NM_001029882 AHDC1 Silent rs111269208 1 27887853 [T/G] NM_001029882 AHDC1 Silent kgp8830183 1 27889163 [T/C] NM_001029882 AHDC1 Silent rs75697999 1 27894317 [A/C] NM_001029882 AHDC1 Silent rs60959325 1 27901012 [T/C] NM_001029882 AHDC1 Silent JHU_1.27901947 1 27901948 [T/C] NM_001029882 AHDC1 Silent JHU_1.27909372 1 27909373 [A/C] NM_001029882 AHDC1 Silent 1:27913398-G-A 1 27913398 [A/G] NM_001029882 AHDC1 Silent rs76650731 1 27915701 [T/C] NM_001029882 AHDC1 Silent rs55766395 1 27923464 [T/C] NM_001029882 AHDC1 Silent rs74973036 1 27924799 [A/G] NM_001029882 AHDC1 Silent rs117207447 1 27925165 [T/C] NM_001029882 AHDC1 Silent rs59868698 1 27925505 [G/C] NM_001029882 AHDC1 Silent exm2260122 1 27931698 [A/G] JHU_1.27932650 1 27932651 [A/G] rs6598891 1 27937456 [T/C] exm36878 1 27939442 [A/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_P525S,Missense_P525S,Missense_P525S exm1786266 1 27939528 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_R496H,Missense_R496H,Missense_R496H rs141451773 1 27939528 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_R496H,Missense_R496H,Missense_R496H exm2251203 1 27939581 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Synonymous_P478P,Synonymous_P478P,Synonymous_P478P 1:27941368-GT 1 27941368 [T/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_A363E,Missense_A363E,Missense_A363E rs149452269 1 27942079 [A/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_P295L,Missense_P295L,Missense_P295L rs2231880 1 27942155 [T/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR Silent,Silent,Silent 1:27942284-CT 1 27942284 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_A252T,Missense_A252T,Missense_A252T exm36907 1 27942346 [T/A] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_D231V,Missense_D231V,Missense_D231V 1:27943448-CT 1 27943448 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_R201H,Missense_R201H,Missense_R201H 1:27943787-CT 1 27943787 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_G150E,Missense_G150E,Missense_G150E rs1292089 1 27944000 [T/A] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR Silent,Silent,Silent rs75198513 1 27945046 [T/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR Silent,Silent,Silent rs2231873 1 27947812 [A/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR Silent,Silent,Silent rs35334091 1 27948108 [C/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_S130R,Missense_S130R,Missense_S130R JHU_1.27948250 1 27948251 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR Silent,Silent,Silent exm2276805 1 27949553 [A/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_T110I,Missense_T110I,Missense_T110I 1:27949569-GA 1 27949569 [A/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_H105Y,Missense_H105Y,Missense_H105Y 1:27950360-CT 1 27950360 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_G23E,Missense_G23E,Missense_G23E JHU_1.27957843 1 27957844 [T/C] NM_005248 FGR Silent JHU_1.27957980 1 27957981 [C/G] NM_005248 FGR Silent rs12726763 1 27958245 [A/G] NM_005248 FGR Silent JHU_1.27960010 1 27960011 [T/C] NM_005248 FGR Silent JHU_1.27960249 1 27960250 [A/G] NM_005248 FGR Silent JHU_1.27962934 1 27962935 [A/G] rs6691864 1 27965892 [A/G] rs1292081 1 27971502 [A/G] rs1296281 1 27973269 [T/C] rs1292075 1 27974027 [T/C] rs11247652 1 27981827 [A/G] rs117994189 1 27983160 [T/C] JHU_1.27983664 1 27983665 [T/C] JHU_1.27986439 1 27986440 [A/G] rs116786652 1 27986914 [G/C] NR_151722 LINC02574 EXON Silent JHU_1.27987869 1 27987870 [T/C] NR_151722 LINC02574 Silent JHU_1.27988030 1 27988031 [A/C] NR_151722 LINC02574 Silent JHU_1.27989619 1 27989620 [A/G] JHU_1.27989760 1 27989761 [T/G] exm36942 1 27992953 [A/G] NM_022873,NM_002038,NM_022872 IFI6,IFI6,IFI6 EXON Missense_I119T,Missense_I111T,Missense_I115T 1:27994779-CT 1 27994779 [T/C] NM_022873,NM_002038,NM_022872 IFI6,IFI6,IFI6 EXON Missense_G94S,Missense_G86S,Missense_G90S 1:27994796-GA 1 27994796 [A/G] NM_022873,NM_002038,NM_022872 IFI6,IFI6,IFI6 EXON Missense_A88V,Missense_A80V,Missense_A84V 1:27994841-CT 1 27994841 [T/C] NM_022873,NM_002038,NM_022872 IFI6,IFI6,IFI6 EXON Missense_G73D,Missense_G65D,Missense_G69D 1:27994856-CA 1 27994856 [A/C] NM_022873,NM_002038,NM_022872 IFI6,IFI6,IFI6 EXON Missense_G68V,Missense_G60V,Missense_G64V 1:27995812-GA 1 27995812 [A/G] NM_022873,NM_002038,NM_022872 IFI6,IFI6,IFI6 EXON Missense_A5V,Missense_A5V,Missense_A5V rs12732199 1 27996472 [A/G] NM_022873,NM_002038,NM_022872 IFI6,IFI6,IFI6 Silent,Silent,Silent rs78494932 1 27996530 [A/G] NM_022873,NM_002038,NM_022872 IFI6,IFI6,IFI6 Silent,Silent,Silent rs2808427 1 27997135 [A/G] NM_022873,NM_002038,NM_022872 IFI6,IFI6,IFI6 Silent,Silent,Silent rs112883905 1 27999518 [T/C] 1:28002690-G-A 1 28002690 [A/G] rs147007975 1 28010910 [T/C] JHU_1.28013194 1 28013195 [T/C] rs75868089 1 28013372 [A/G] rs2808422 1 28017518 [T/G] rs79631825 1 28018698 [T/C] JHU_1.28025115 1 28025116 [A/T] rs4908360 1 28028200 [A/G] JHU_1.28029376 1 28029377 [T/C] rs74063876 1 28040472 [A/C] rs2272795 1 28051611 [A/G] JHU_1.28052416 1 28052417 [A/G] 1:28052652-CA 1 28052652 [A/C] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_Q21K,Missense_Q21K,Missense_Q21K,Missense_Q21K,Missense_Q21K 1:28052653-AG 1 28052653 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_Q21R,Missense_Q21R,Missense_Q21R,Missense_Q21R,Missense_Q21R 1:28052655-GT 1 28052655 [T/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_G22W,Missense_G22W,Missense_G22W,Missense_G22W,Missense_G22W 1:28052663-GT 1 28052663 [T/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_Q24H,Missense_Q24H,Missense_Q24H,Missense_Q24H,Missense_Q24H 1:28052664-CA 1 28052664 [A/C] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_L25M,Missense_L25M,Missense_L25M,Missense_L25M,Missense_L25M 1:28052668-GT 1 28052668 [T/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_C26F,Missense_C26F,Missense_C26F,Missense_C26F,Missense_C26F JHU_1.28053139 1 28053140 [T/A] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent rs80182830 1 28053205 [A/C] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent rs1736540 1 28053477 [T/C] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent rs6670793 1 28060574 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Synonymous_A112A,Synonymous_A78A,Silent,Synonymous_A78A,Synonymous_A112A exm36985 1 28060600 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_R121H,Missense_R87H,Silent,Missense_R87H,Missense_R121H indel.2026 1 28060636 [I/D] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON rs139815057 1 28062056 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent JHU_1.28068407 1 28068408 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent 1:28071172-GA 1 28071172 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_G155E,Missense_G121E,Missense_G70E,Missense_G121E,Missense_G155E JHU_1.28075456 1 28075457 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent exm36995 1 28075662 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_D233G,Silent,Silent,Missense_D199G,Silent variant.2027 1 28081764 [T/C] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Nonsense_Q254X,Nonsense_Q191X,Nonsense_Q140X,Nonsense_Q220X,Nonsense_Q225X rs80065367 1 28083233 [T/C] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent newrs145344355 1 28086139 [A/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent JHU_1.28086954 1 28086955 [A/C] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent exm37000 1 28087052 [T/G] NM_001143912,NM_001143914,NM_001143915,NM_152660,NM_001143913 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_S329I,Missense_S266I,Missense_S215I,Missense_S295I,Missense_S300I rs142233321 1 28097737 [A/G] rs150550497 1 28102291 [C/G] NM_177424 STX12 Silent 1:28104069-A-C 1 28104069 [A/C] NM_177424 STX12 Silent JHU_1.28105843 1 28105844 [T/G] NM_177424 STX12 Silent rs116081621 1 28106184 [A/G] NM_177424 STX12 Silent rs2064072 1 28106233 [A/G] NM_177424 STX12 Silent rs112485554 1 28110223 [T/G] NM_177424 STX12 Silent JHU_1.28110291 1 28110292 [A/G] NM_177424 STX12 Silent rs116673229 1 28112092 [A/T] NM_177424 STX12 Silent indel.2029 1 28120133 [D/I] NM_177424 STX12 EXON JHU_1.28125478 1 28125479 [A/C] NM_177424 STX12 Silent exm37008 1 28128190 [A/G] NM_177424 STX12 EXON Missense_R97H exm37010 1 28128318 [T/C] NM_177424 STX12 EXON Missense_R140C rs145643426 1 28129333 [A/G] NM_177424 STX12 Silent indel.2030 1 28136793 [I/D] NM_177424 STX12 EXON 1:28138695-GA 1 28138695 [A/G] NM_177424 STX12 EXON Missense_M164I 1:28138711-GT 1 28138711 [T/G] NM_177424 STX12 EXON Nonsense_E170X 1:28138712-AG 1 28138712 [A/G] NM_177424 STX12 EXON Missense_E170G 1:28138754-GT 1 28138754 [T/G] NM_177424 STX12 EXON Missense_R184I rs78203954 1 28142227 [A/G] NM_177424 STX12 Silent 1:28144422-GA 1 28144422 [A/G] NM_177424 STX12 EXON Missense_G213S JHU_1.28146005 1 28146006 [A/G] NM_177424 STX12 Silent exm37022 1 28146199 [A/G] NM_177424 STX12 EXON Missense_V230I variant.2031 1 28146244 [A/G] NM_177424 STX12 Silent rs11247691 1 28148561 [T/C] NM_177424 STX12 Silent JHU_1.28150434 1 28150435 [A/G] NM_177424 STX12 EXON Silent rs75464283 1 28154416 [T/C] 1:28157357-CT 1 28157357 [T/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Missense_A4V,Silent,Silent 1:28157381-CA 1 28157381 [A/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Missense_P12Q,Silent,Silent JHU_1.28157445 1 28157446 [T/G] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Silent,Silent,Silent rs2072750 1 28157871 [T/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Silent,Silent,Silent indel.2032 1 28159285 [D/I] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON rs147590153 1 28164932 [G/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 Silent,Silent,Silent rs146037251 1 28165555 [A/G] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 Silent,Silent,Silent JHU_1.28173658 1 28173659 [T/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 Silent,Silent,Silent 1:28176606-GT 1 28176606 [T/G] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Missense_K235N,Missense_K93N,Missense_K11N exm1786679 1 28176716 [G/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Missense_S272T,Missense_S130T,Missense_S48T exm37073 1 28176777 [A/G] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Missense_M292I,Missense_M150I,Missense_M68I 1:28176839-TC 1 28176839 [T/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Missense_M313T,Missense_M171T,Missense_M89T newrs191813798 1 28176927 [A/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Synonymous_G342G,Synonymous_G200G,Synonymous_G118G 1:28178102-TC 1 28178102 [T/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Silent,Silent,Silent 1:28178120-TG 1 28178120 [T/G] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Silent,Silent,Silent 1:28178158-AC 1 28178158 [A/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Silent,Silent,Silent JHU_1.28181626 1 28181627 [T/G] rs6672956 1 28185325 [T/C] JHU_1.28188910 1 28188911 [T/C] JHU_1.28198889 1 28198890 [A/C] rs61787159 1 28199369 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 Silent,Silent,Silent,Silent,Silent rs117107538 1 28199667 [C/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 Silent,Silent,Silent,Silent,Silent rs61789661 1 28201987 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 Silent,Silent,Silent,Silent,Silent 1:28203108-AG 1 28203108 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_Y35C,Missense_Y35C,Missense_Y35C,Missense_Y35C,Missense_Y35C rs11247703 1 28203653 [G/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 Silent,Silent,Silent,Silent,Silent 1:27878460_27878461ins 1 28204971 [I/D] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 exm37101 1 28206250 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_F111L,Silent,Missense_F111L,Missense_F111L,Missense_F111L exm37104 1 28206295 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_E126K,Silent,Missense_E126K,Missense_E126K,Missense_E126K 1:28206343-CT 1 28206343 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_R142C,Silent,Missense_R142C,Missense_R142C,Missense_R142C 1:28206416-CA 1 28206416 [A/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_P166H,Silent,Missense_P166H,Missense_P166H,Missense_P166H exm37112 1 28206440 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_A174V,Silent,Missense_A174V,Missense_A174V,Missense_A174V 1:28206467-AG 1 28206467 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_Q183R,Silent,Missense_Q183R,Missense_Q183R,Missense_Q183R 1:28206490-GA 1 28206490 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_V191I,Silent,Silent,Missense_V191I,Missense_V191I exm37124 1 28208572 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_P246L,Silent,Silent,Missense_P246L,Silent exm37125 1 28208649 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_R272C,Silent,Silent,Silent,Silent 1:28208666-CA 1 28208666 [A/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_S277R,Silent,Silent,Silent,Silent exm37129 1 28208727 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_P298S,Silent,Silent,Silent,Silent 1:28208758-GA 1 28208758 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_R308H,Silent,Silent,Silent,Silent exm2233120 1 28208932 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_T366M,Silent,Silent,Silent,Silent 1:28209336-CA 1 28209336 [A/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_P501T,Silent,Missense_P305T,Missense_P372T,Silent exm37154 1 28209366 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_K511E,Silent,Missense_K315E,Missense_K382E,Silent rs3766400 1 28209366 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_K511E,Silent,Missense_K315E,Missense_K382E,Silent exm37156 1 28209381 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_P516S,Silent,Missense_P320S,Missense_P387S,Silent exm37162 1 28209484 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_P550L,Silent,Missense_P354L,Missense_P421L,Silent JHU_1.28210387 1 28210388 [A/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 Silent,Silent,Silent,Silent,Silent JHU_1.28210661 1 28210662 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 Silent,Silent,Silent,Silent,Silent exm37166 1 28211835 [T/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Synonymous_H583H,Missense_R89C,Synonymous_H387H,Synonymous_H454H,Missense_R226C exm37167 1 28211859 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Synonymous_A591A,Missense_E97K,Synonymous_A395A,Synonymous_A462A,Missense_E234K exm37168 1 28211893 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_S603G,Missense_Q108R,Missense_S407G,Missense_S474G,Missense_Q245R exm37170 1 28211920 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_R612G,Missense_Q117R,Missense_R416G,Missense_R483G,Missense_Q254R exm37173 1 28212428 [A/G] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Missense_I643V,Silent,Missense_I447V,Missense_I514V,Silent rs11485 1 28212879 [A/C] NM_001105556,NM_001039477,NM_001286115,NM_001286113,NM_004848 THEMIS2,THEMIS2,THEMIS2,THEMIS2,THEMIS2 EXON Silent,Silent,Silent,Silent,Silent rs114621012 1 28213845 [T/G] JHU_1.28214727 1 28214728 [A/G] 1:28216191-C-A 1 28216191 [A/C] rs28904917 1 28216574 [A/G] rs7356 1 28218100 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Silent,Silent,Silent,Silent,Silent indel.2036 1 28218709 [I/D] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON rs17185038 1 28219658 [C/G] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent 1:28220826-TC 1 28220826 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Missense_N107S,Missense_N203S,Missense_N207S,Missense_N211S,Missense_N107S 1:28223590-CT 1 28223590 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Missense_D55N,Missense_D151N,Missense_D155N,Missense_D159N,Missense_D55N 1:28224211-CA 1 28224211 [A/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Missense_S18I,Missense_S114I,Missense_S118I,Missense_S122I,Missense_S18I 1:28225476-C-T 1 28225476 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent JHU_1.28226042 1 28226043 [A/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent JHU_1.28229810 1 28229811 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent JHU_1.28229811 1 28229812 [A/G] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent 1:28233546-TC 1 28233546 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Silent,Missense_I76V,Missense_I80V,Missense_I84V,Silent JHU_1.28234081 1 28234082 [T/A] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent rs2474470 1 28234999 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent rs115343322 1 28238176 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent JHU_1.28238216 1 28238217 [A/G] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent exm37198 1 28240593 [A/G] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Silent,Missense_S33F,Missense_S37F,Missense_S41F,Silent exm37202 1 28240648 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Silent,Missense_G15R,Missense_G19R,Missense_G23R,Silent 1:28240728-GA 1 28240728 [A/G] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent 1:28240808-CGGGT-C 1 28240808 [D/I] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 1:28240815-CT 1 28240815 [T/C] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 Silent,Silent,Silent,Silent,Silent indel.2039 1 28240932 [D/I] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 JHU_1.28241082 1 28241083 [A/G] NM_001355128,NM_002946,NM_001355129,NM_001297558,NM_001286076 RPA2,RPA2,RPA2,RPA2,RPA2 EXON Silent,Silent,Silent,Silent,Silent JHU_1.28249682 1 28249683 [T/C] JHU_1.28251064 1 28251065 [A/G] rs11247723 1 28251700 [A/C] rs6676158 1 28257209 [A/G] JHU_1.28259473 1 28259474 [A/G] JHU_1.28259563 1 28259564 [T/C] exm37224 1 28261712 [G/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_W6C,Silent,Missense_W6C exm37229 1 28261756 [T/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs3737807 1 28261902 [A/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs4409675 1 28262409 [T/A] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent JHU_1.28266956 1 28266957 [A/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent JHU_1.28266965 1 28266966 [T/A] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs1010082 1 28267869 [T/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs10902678 1 28268573 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs12409437 1 28270046 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent exm37233 1 28271744 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Synonymous_G21G,Silent,Synonymous_G21G exm37235 1 28271781 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_D34N,Silent,Missense_D34N exm37241 1 28271918 [C/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_K79N,Silent,Missense_K79N JHU_1.28272881 1 28272882 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs143548340 1 28273461 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs10902682 1 28274984 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent 1:28275601-GA 1 28275601 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_E101K,Silent,Missense_E101K 1:28275641-GA 1 28275641 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_R114H,Silent,Missense_R114H JHU_1.28275709 1 28275710 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs4256835 1 28276389 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent rs6659358 1 28276558 [A/T] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent JHU_1.28277582 1 28277583 [T/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent JHU_1.28278672 1 28278673 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent exm37247 1 28279737 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_Y129H,Silent,Missense_Y129H exm37252 1 28279854 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_A168T,Silent,Missense_A168T exm37255 1 28280889 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_P181L,Silent,Missense_P181L JHU_1.28281412 1 28281413 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B Silent,Silent,Silent exm37268 1 28282238 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_T245M,Missense_T39M,Missense_T245M exm37270 1 28282259 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_R252Q,Missense_R46Q,Missense_R252Q exm1786840 1 28282271 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_N256S,Missense_N50S,Missense_N256S exm37273 1 28282292 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_V263A,Missense_V57A,Missense_V263A exm37275 1 28282307 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_R268H,Missense_R62H,Missense_R268H exm37276 1 28282309 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_V269I,Missense_V63I,Missense_V269I exm37277 1 28282330 [A/G] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_G276R,Missense_G70R,Missense_G276R 1:28282555-CT 1 28282555 [T/C] NM_001009568,NM_001304579,NM_014474 SMPDL3B,SMPDL3B,SMPDL3B EXON Missense_R323W,Missense_R117W,Missense_R323W rs4644519 1 28283271 [A/G] NM_001304579,NM_014474 SMPDL3B,SMPDL3B Silent,Silent exm37296 1 28285123 [A/G] NM_001304579,NM_014474 SMPDL3B,SMPDL3B EXON Missense_R175H,Missense_R381H exm37298 1 28285155 [T/C] NM_001304579,NM_014474 SMPDL3B,SMPDL3B EXON Missense_Y186H,Missense_Y392H 1:28285213-TG 1 28285213 [T/G] NM_001304579,NM_014474 SMPDL3B,SMPDL3B EXON Missense_M205R,Missense_M411R 1:28285285-CT 1 28285285 [T/C] NM_001304579,NM_014474 SMPDL3B,SMPDL3B EXON Missense_T229M,Missense_T435M exm37306 1 28285315 [T/G] NM_001304579,NM_014474 SMPDL3B,SMPDL3B EXON Missense_M239R,Missense_M445R rs113568867 1 28286023 [T/C] NM_018053 XKR8 EXON Silent JHU_1.28287263 1 28287264 [G/C] NM_018053 XKR8 Silent 1:28290014-TGCAGGAGCTGCG-T 1 28290014 [I/D] NM_018053 XKR8 EXON 1:28290123-GA 1 28290123 [A/G] NM_018053 XKR8 EXON Missense_E137K rs61743136 1 28290132 [T/C] NM_018053 XKR8 EXON Synonymous_L140L exm37323 1 28290139 [T/C] NM_018053 XKR8 EXON Missense_T142M rs4373781 1 28290231 [G/C] NM_018053 XKR8 Silent 1:28293449-GA 1 28293449 [A/G] NM_018053 XKR8 EXON Nonsense_W309X exm37350 1 28293524 [A/G] NM_018053 XKR8 EXON Missense_R334Q 1:28293560-GA 1 28293560 [A/G] NM_018053 XKR8 EXON Missense_C346Y exm37355 1 28293641 [A/G] NM_018053 XKR8 EXON Missense_R373H rs6673064 1 28293712 [A/G] NM_018053 XKR8 EXON Silent JHU_1.28294709 1 28294710 [A/G] JHU_1.28295033 1 28295034 [C/G] rs149161279 1 28295232 [A/G] JHU_1.28298139 1 28298140 [A/G] NM_001990,NM_001282562,NM_001282561 EYA3,EYA3,EYA3 EXON Silent,Silent,Silent rs114420260 1 28298295 [T/C] NM_001990,NM_001282562,NM_001282561 EYA3,EYA3,EYA3 EXON Silent,Silent,Silent rs6699701 1 28298951 [T/C] NM_001990,NM_001282562,NM_001282561 EYA3,EYA3,EYA3 EXON Silent,Silent,Silent rs12565238 1 28299346 [T/C] NM_001990,NM_001282562,NM_001282561 EYA3,EYA3,EYA3 EXON Silent,Silent,Silent rs78266202 1 28303028 [T/G] NM_001990,NM_001282562,NM_001282561 EYA3,EYA3,EYA3 Silent,Silent,Silent 1:28303813-TG 1 28303813 [T/G] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 EXON Silent,Silent,Silent,Missense_S531R JHU_1.28304375 1 28304376 [A/G] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent indel.2059 1 28304930 [I/D] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 EXON 1:28306250-C-T 1 28306250 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent rs12128181 1 28309976 [A/G] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent rs12040932 1 28311224 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent rs2492958 1 28314423 [A/G] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent 1:28314969-A-C 1 28314969 [A/C] NM_001990,NM_001282562,NM_001282561,NM_001282560 EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent rs77838385 1 28315902 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent exm37376 1 28326481 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_N358S,Missense_N305S,Missense_N312S,Missense_N312S,Silent JHU_1.28334680 1 28334681 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent exm37381 1 28337465 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_E301G,Missense_E248G,Missense_E255G,Missense_E255G,Silent 1:28337569-GGGACAAAGAT-G 1 28337569 [I/D] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON rs145243934 1 28338580 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent exm37390 1 28339732 [A/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_T220I,Missense_T167I,Missense_T174I,Missense_T174I,Silent exm37393 1 28343702 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_N183S,Missense_N130S,Missense_N137S,Missense_N137S,Silent rs79904689 1 28357685 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent JHU_1.28359089 1 28359090 [A/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent exm37398 1 28362075 [A/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_T114M,Missense_T61M,Missense_T114M,Missense_T114M,Silent rs72658313 1 28364241 [T/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent JHU_1.28364975 1 28364976 [A/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent exm37405 1 28369127 [T/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_P38T,Silent,Missense_P38T,Missense_P38T,Silent exm37406 1 28369158 [T/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_Q27H,Silent,Missense_Q27H,Missense_Q27H,Silent JHU_1.28374044 1 28374045 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent rs72658325 1 28374577 [A/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent JHU_1.28374576 1 28374577 [A/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent 1:28374927-GA 1 28374927 [A/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 EXON Missense_A15V,Silent,Missense_A15V,Missense_A15V,Silent rs10902684 1 28377053 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent rs537374 1 28387137 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent rs3753864 1 28390596 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent 1:28401248-G-T 1 28401248 [T/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent rs143734211 1 28408041 [A/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent 1:28410864-C-T 1 28410864 [T/C] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent rs56309501 1 28414915 [T/G] NM_001990,NM_001282562,NM_001282561,NM_001282560,NR_104214 EYA3,EYA3,EYA3,EYA3,EYA3 Silent,Silent,Silent,Silent,Silent JHU_1.28426819 1 28426820 [A/C] JHU_1.28426870 1 28426871 [A/G] rs74063273 1 28428725 [T/C] rs6598919 1 28432549 [A/G] exm2264811 1 28432549 [A/G] rs6598920 1 28432711 [A/G] rs79260979 1 28436313 [T/G] rs72875068 1 28437120 [T/C] JHU_1.28440025 1 28440026 [T/C] rs12565621 1 28451885 [A/G] rs1769711 1 28455037 [A/G] rs72875075 1 28458181 [T/C] rs11247757 1 28460745 [A/G] JHU_1.28461101 1 28461102 [A/G] JHU_1.28462196 1 28462197 [A/G] rs77483311 1 28463168 [A/G] rs12088946 1 28464178 [T/C] rs116339278 1 28469369 [A/T] rs313153 1 28471443 [T/C] exm37412 1 28476520 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_N338S,Missense_N338S,Missense_N338S,Missense_N338S 1:28476568-GA 1 28476568 [A/G] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_T322M,Missense_T322M,Missense_T322M,Missense_T322M exm37420 1 28476713 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A274T,Missense_A274T,Missense_A274T,Missense_A274T rs140866472 1 28476713 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A274T,Missense_A274T,Missense_A274T,Missense_A274T exm37426 1 28476847 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q exm37428 1 28476862 [T/G] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A224D,Missense_A224D,Missense_A224D,Missense_A224D rs184182216 1 28477001 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_E178K,Missense_E178K,Missense_E178K,Missense_E178K 1:28477046-CT 1 28477046 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_D163N,Missense_D163N,Missense_D163N,Missense_D163N rs138629813 1 28477192 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_N114S,Missense_N114S,Missense_N114S,Missense_N114S exm37448 1 28477192 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_N114S,Missense_N114S,Missense_N114S,Missense_N114S 1:28477408-CT 1 28477408 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_R42H,Missense_R42H,Missense_R42H,Missense_R42H 1:28477451-GA 1 28477451 [A/G] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_L28F,Missense_L28F,Missense_L28F,Missense_L28F rs78590964 1 28480690 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR Silent,Silent,Silent,Silent JHU_1.28483398 1 28483399 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR Silent,Silent,Silent,Silent rs181730652 1 28490022 [A/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR Silent,Silent,Silent,Silent JHU_1.28495032 1 28495033 [A/G] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR Silent,Silent,Silent,Silent rs78221516 1 28496748 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR Silent,Silent,Silent,Silent rs77616065 1 28498049 [T/C] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR Silent,Silent,Silent,Silent rs116631913 1 28500218 [A/T] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR Silent,Silent,Silent,Silent rs17257357 1 28503211 [A/G] NM_001164723,NM_001164721,NM_000952,NM_001164722 PTAFR,PTAFR,PTAFR,PTAFR EXON Silent,Silent,Silent,Silent JHU_1.28505274 1 28505275 [A/G] NM_001164721,NM_001164722 PTAFR,PTAFR Silent,Silent rs11582510 1 28505820 [A/G] NM_001164721,NM_001164722 PTAFR,PTAFR Silent,Silent rs12139433 1 28514292 [A/C] NM_001164721,NM_001164722 PTAFR,PTAFR Silent,Silent rs372189286 1 28515000 [A/G] NM_001164721,NM_001164722 PTAFR,PTAFR Silent,Silent 1:28518253-G-A 1 28518253 [A/G] NM_001164721,NM_001164722 PTAFR,PTAFR Silent,Silent JHU_1.28519158 1 28519159 [T/G] NM_001164721,NM_001164722 PTAFR,PTAFR Silent,Silent rs79323970 1 28522628 [A/G] rs12135105 1 28524831 [T/C] JHU_1.28529723 1 28529724 [A/G] NM_014280 DNAJC8 Silent rs142289741 1 28544145 [A/C] NM_014280 DNAJC8 Silent rs147845472 1 28545530 [T/C] NM_014280 DNAJC8 Silent rs7518571 1 28551450 [A/G] NM_014280 DNAJC8 Silent 1:28551481-C-T 1 28551481 [T/C] NM_014280 DNAJC8 Silent exm37483 1 28559436 [G/C] NM_014280 DNAJC8 EXON Missense_S25T exm37485 1 28559479 [T/C] NM_014280 DNAJC8 EXON Missense_G11S 1:28562252-C-G 1 28562252 [G/C] JHU_1.28562675 1 28562676 [A/G] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON Silent,Silent,Silent exm37492 1 28562906 [A/G] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON Missense_R41Q,Missense_R41Q,Missense_R41Q 1:28562953-CT 1 28562953 [T/C] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON Nonsense_R57X,Nonsense_R57X,Nonsense_R57X rs150962012 1 28563774 [A/G] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON Silent,Silent,Silent rs8559 1 28564252 [A/G] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON Silent,Silent,Silent exm37501 1 28564279 [A/G] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON Missense_R63G,Silent,Silent rs9508 1 28564279 [A/G] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON Missense_R63G,Silent,Silent 1KG_1_28564457 1 28564457 [I/D] NM_178190,NM_016311,NM_178191 ATP5IF1,ATP5IF1,ATP5IF1 EXON 1:28567205-G-A 1 28567205 [A/G] JHU_1.28568096 1 28568097 [T/C] 1:28568258-T-A 1 28568258 [T/A] JHU_1.28570817 1 28570818 [T/C] 1:28571571-T-C 1 28571571 [T/C] JHU_1.28574496 1 28574497 [G/C] JHU_1.28575860 1 28575861 [A/C] 1:28585213-A-G 1 28585213 [A/G] chr1_28586419 1 28586419 [T/G] NM_031459 SESN2 EXON Missense_G21C rs508772 1 28589578 [T/C] NM_031459 SESN2 Silent 1:28590319-T-C 1 28590319 [T/C] NM_031459 SESN2 Silent exm37512 1 28595709 [T/C] NM_031459 SESN2 EXON Missense_R36W exm37514 1 28595716 [A/G] NM_031459 SESN2 EXON Missense_R38Q exm37520 1 28595751 [A/G] NM_031459 SESN2 EXON Missense_V50M 1:28595811-A-G 1 28595811 [A/G] NM_031459 SESN2 Silent 1:28598251-CT 1 28598251 [T/C] NM_031459 SESN2 EXON Nonsense_R75X rs74896528 1 28598287 [T/C] NM_031459 SESN2 EXON Missense_P87S exm37526 1 28598287 [T/C] NM_031459 SESN2 EXON Missense_P87S chr1_28598837 1 28598837 [A/G] NM_031459 SESN2 EXON Missense_M133V 1:28598919-GA 1 28598919 [A/G] NM_031459 SESN2 EXON Missense_S160N exm1787166 1 28599878 [T/G] NM_031459 SESN2 EXON Missense_S254A exm37555 1 28599897 [T/C] NM_031459 SESN2 EXON Missense_A260V exm37564 1 28600574 [T/C] NM_031459 SESN2 EXON Missense_H309Y exm37565 1 28600607 [A/G] NM_031459 SESN2 EXON Missense_T320A rs139289642 1 28601185 [T/C] NM_031459 SESN2 Silent 1:28601477-GA 1 28601477 [A/G] NM_031459 SESN2 EXON Missense_V388M JHU_1.28604633 1 28604634 [T/C] NM_031459 SESN2 Silent rs11247766 1 28605319 [A/G] NM_031459 SESN2 Silent exm37579 1 28605706 [A/G] NM_031459 SESN2 EXON Missense_R437Q 1:28607299-CT 1 28607299 [T/C] NM_031459 SESN2 EXON Missense_R477C rs78089600 1 28609495 [A/C] JHU_1.28610777 1 28610778 [T/C] JHU_1.28614404 1 28614405 [T/C] rs7556668 1 28617464 [A/G] JHU_1.28619215 1 28619216 [A/T] rs150551139 1 28620601 [T/C] rs75173727 1 28620730 [A/G] rs140653415 1 28623448 [A/G] 1:28640773-C-T 1 28640773 [T/C] rs113565346 1 28641336 [T/C] rs117251070 1 28641907 [A/G] rs17163135 1 28648893 [T/C] rs116488942 1 28649476 [T/G] rs79093975 1 28656262 [A/G] NM_017638,NM_001127350 MED18,MED18 Silent,Silent variant.2071 1 28657231 [T/G] NM_017638,NM_001127350 MED18,MED18 EXON Nonsense_E20X,Nonsense_E20X rs10794514 1 28659696 [T/G] NM_017638,NM_001127350 MED18,MED18 Silent,Silent rs61783795 1 28659975 [C/G] NM_017638,NM_001127350 MED18,MED18 Silent,Silent exm37593 1 28660992 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_M46I,Missense_M46I variant.2072 1 28661041 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Nonsense_Q63X,Nonsense_Q63X exm37598 1 28661074 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R74C,Missense_R74C newrs138328157 1 28661212 [T/G] NM_017638,NM_001127350 MED18,MED18 EXON Nonsense_E120X,Nonsense_E120X exm37609 1 28661225 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R124H,Missense_R124H exm37611 1 28661263 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R137C,Missense_R137C 1:28661264-GA 1 28661264 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R137H,Missense_R137H exm37614 1 28661302 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R150C,Missense_R150C exm37619 1 28661383 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_A177T,Missense_A177T exm1787246 1 28661422 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_A190T,Missense_A190T JHU_1.28682362 1 28682363 [T/C] JHU_1.28685601 1 28685602 [A/G] rs12076477 1 28685651 [T/C] rs4908400 1 28690628 [T/C] 1:28696852-C-T 1 28696852 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent JHU_1.28697134 1 28697135 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent rs12120985 1 28697305 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent 1:28703444-A-G 1 28703444 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent JHU_1.28706561 1 28706562 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent rs144085046 1 28707056 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent 1:28714590-C-T 1 28714590 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent rs12132064 1 28718554 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent rs11247799 1 28719851 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent 1:28721924-G-T 1 28721924 [T/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent JHU_1.28733774 1 28733775 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent kgp11982754 1 28733993 [T/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent rs118018971 1 28734072 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent kgp6414103 1 28736113 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent rs11247811 1 28738830 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent rs11247814 1 28742322 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent rs114145653 1 28749184 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent rs77745539 1 28755850 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent rs61783837 1 28756847 [G/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent rs117376124 1 28759657 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent 1:28766537-A-G 1 28766537 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.28768648 1 28768649 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.28774510 1 28774511 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent,Silent rs67779109 1 28781321 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent,Silent Variant46 1 28785729 [I/D] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Variant12355 1 28785730 [I/D] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON JHU_1.28785901 1 28785902 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent,Silent indel.2078 1 28786773 [D/I] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON exm37639 1 28792199 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_G92D,Missense_G76D,Missense_G92D,Missense_G100D,Missense_G100D,Missense_G102D exm37641 1 28792276 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_S118R,Missense_S102R,Missense_S118R,Missense_S126R,Missense_S126R,Missense_S128R 1:28792322-GT 1 28792322 [T/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_R133M,Missense_R117M,Missense_R133M,Missense_R141M,Missense_R141M,Missense_R143M exm37646 1 28792952 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_P166S,Missense_P150S,Missense_P166S,Missense_P174S,Missense_P174S,Missense_P176S 1:28793054-AC 1 28793054 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_I200L,Missense_I184L,Missense_I200L,Missense_I208L,Missense_I208L,Missense_I210L exm37666 1 28800237 [C/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_S332W,Missense_S316W,Missense_S332W,Missense_S340W,Missense_S340W,Missense_S342W 1:28800248-CA 1 28800248 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_P336T,Missense_P320T,Missense_P336T,Missense_P344T,Missense_P344T,Missense_P346T exm37676 1 28800380 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_L380I,Missense_L364I,Missense_L380I,Missense_L388I,Missense_L388I,Missense_L390I exm37681 1 28800436 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_I398M,Missense_I382M,Missense_I398M,Missense_I406M,Missense_I406M,Missense_I408M chr1_28800453 1 28800453 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_G404E,Missense_G388E,Missense_G404E,Missense_G412E,Missense_G412E,Missense_G414E exm37682 1 28800491 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_L417M,Missense_L401M,Missense_L417M,Missense_L425M,Missense_L425M,Missense_L427M exm37683 1 28800530 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_P430S,Missense_P414S,Missense_P430S,Missense_P438S,Missense_P438S,Missense_P440S exm37689 1 28800629 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_R463G,Missense_R447G,Missense_R463G,Missense_R471G,Missense_R471G,Missense_R473G exm37692 1 28802648 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_T484N,Missense_T468N,Missense_T484N,Missense_T492N,Missense_T492N,Missense_T494N exm37694 1 28802659 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_T488A,Missense_T472A,Missense_T488A,Missense_T496A,Missense_T496A,Missense_T498A 1:28802729-GAGA-G 1 28802729 [I/D] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON exm37698 1 28806965 [C/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_A537P,Missense_A521P,Missense_A537P,Missense_A545P,Missense_A545P,Missense_A547P exm37699 1 28806971 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_A539T,Missense_A523T,Missense_A539T,Missense_A547T,Missense_A547T,Missense_A549T 1:28807009-GT 1 28807009 [T/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_K551N,Missense_K535N,Missense_K551N,Missense_K559N,Missense_K559N,Missense_K561N exm1787331 1 28807116 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_R587Q,Missense_R571Q,Missense_R587Q,Missense_R595Q,Missense_R595Q,Missense_R597Q JHU_1.28808322 1 28808323 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.28810331 1 28810332 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.28814048 1 28814049 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent,Silent variant.2081 1 28816407 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 Silent,Silent,Silent,Silent,Silent,Silent exm37708 1 28817495 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Nonsense_R617X,Nonsense_R601X,Nonsense_R617X,Nonsense_R625X,Nonsense_R625X,Nonsense_R627X 1:28817496-GA 1 28817496 [A/G] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_R617Q,Missense_R601Q,Missense_R617Q,Missense_R625Q,Missense_R625Q,Missense_R627Q 1:28818266-CA 1 28818266 [A/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Missense_D661E,Missense_D645E,Missense_D661E,Missense_D669E,Missense_D669E,Missense_D671E rs12139517 1 28823671 [T/C] NM_001048183,NM_001350161,NM_001350160,NM_001350158,NM_001350159,NM_023923 PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4,PHACTR4 EXON Silent,Silent,Silent,Silent,Silent,Silent rs11804512 1 28828893 [T/C] rs16837603 1 28832294 [A/G] rs2840758 1 28833494 [A/G] NR_002909,NR_030725,NR_030726,NM_001048199,NR_036473 SNHG3,RCC1,RCC1,RCC1,SNHG3 Silent,Silent,Silent,Silent,Silent JHU_1.28835809 1 28835810 [T/C] NR_002909,NR_030725,NR_030726,NM_001048199,NR_036473 SNHG3,RCC1,RCC1,RCC1,SNHG3 EXON Silent,Silent,Silent,Silent,Silent JHU_1.28837588 1 28837589 [A/T] NR_030725,NR_030726,NM_001048199 RCC1,RCC1,RCC1 Silent,Silent,Silent JHU_1.28837915 1 28837916 [T/G] NR_030725,NR_030726,NM_001048199 RCC1,RCC1,RCC1 Silent,Silent,Silent rs114828406 1 28844319 [T/C] NR_030725,NR_030726,NM_001048199 RCC1,RCC1,RCC1 Silent,Silent,Silent rs12031676 1 28846063 [T/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 Silent,Silent,Silent,Silent,Silent,Silent rs10915206 1 28848588 [T/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 Silent,Silent,Silent,Silent,Silent,Silent rs115561932 1 28853545 [G/C] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.28858142 1 28858143 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 Silent,Silent,Silent,Silent,Silent,Silent 1:28858428-GA 1 28858428 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_V63I,Missense_V94I,Missense_V80I,Missense_V63I exm37769 1 28861771 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Synonymous_G180G,Synonymous_G211G,Synonymous_G197G,Synonymous_G180G 1:28861794-CA 1 28861794 [A/C] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_T188K,Missense_T219K,Missense_T205K,Missense_T188K exm2233135 1 28862431 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_R237Q,Missense_R268Q,Missense_R254Q,Missense_R237Q JHU_1.28862453 1 28862454 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_A245T,Missense_A276T,Missense_A262T,Missense_A245T exm37776 1 28862454 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_A245T,Missense_A276T,Missense_A262T,Missense_A245T exm37777 1 28862470 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_Y250C,Missense_Y281C,Missense_Y267C,Missense_Y250C rs10799123 1 28864120 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 Silent,Silent,Silent,Silent,Silent,Silent exm37792 1 28864399 [A/T] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_D382E,Missense_D413E,Missense_D399E,Missense_D382E exm37793 1 28864400 [A/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Missense_E383K,Missense_E414K,Missense_E400K,Missense_E383K 1KG_1_28864489 1 28864489 [I/D] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON exm37800 1 28864508 [T/G] NR_030725,NR_030726,NM_001048199,NM_001048194,NM_001048195,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Silent,Nonsense_E419X,Nonsense_E450X,Nonsense_E436X,Nonsense_E419X rs12090855 1 28874969 [A/G] rs142780790 1 28875045 [A/G] exm37809 1 28880201 [T/C] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP EXON Silent,Missense_M26T rs12139243 1 28882973 [T/C] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP Silent,Silent 1:28887158-TC 1 28887158 [T/C] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP EXON Silent,Missense_Y47H 1:28887225-CA 1 28887225 [A/C] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP EXON Silent,Missense_P69H rs76411095 1 28887860 [A/G] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP EXON Silent,Synonymous_A76A 1:28891285-GA 1 28891285 [A/G] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP EXON Silent,Missense_V117I rs377682535 1 28896699 [A/G] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP Silent,Silent exm37836 1 28898383 [A/T] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP EXON Silent,Missense_Y233F rs9426442 1 28901455 [A/G] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP Silent,Silent exm37837 1 28904029 [A/G] NR_003109,NM_017846 TRNAU1AP,TRNAU1AP EXON Silent,Missense_D249N variant.2086 1 28906423 [A/C] NR_024127,NR_146384,NR_146381,NR_146386,NR_146383,NR_146385,NR_146382,NR_146387 SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_28906454 1 28906454 [T/C] NR_024127,NR_146384,NR_146381,NR_146386,NR_146383,NR_146385,NR_146382,NR_146387 SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12,SNHG12 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:28908393-T-A 1 28908393 [A/T] NR_146382 SNHG12 Silent JHU_1.28918526 1 28918527 [A/G] 1:28920228-CT 1 28920228 [T/C] NM_152304,NM_001193532 RAB42,RAB42 EXON Silent,Missense_R86W rs34749063 1 28925538 [T/C] 1:28931853-GA 1 28931853 [A/G] NM_001135218,NM_005644 TAF12,TAF12 Silent,Silent exm37873 1 28931901 [A/T] NM_001135218,NM_005644 TAF12,TAF12 EXON Missense_T145S,Missense_T145S exm37874 1 28931924 [T/C] NM_001135218,NM_005644 TAF12,TAF12 EXON Missense_R137Q,Missense_R137Q kgp3885732 1 28933723 [T/C] NM_001135218,NM_005644 TAF12,TAF12 Silent,Silent kgp4606842 1 28934902 [A/G] NM_001135218,NM_005644 TAF12,TAF12 Silent,Silent rs4252984 1 28947912 [T/C] NM_001135218,NM_005644 TAF12,TAF12 Silent,Silent 1:28948541-AG 1 28948541 [A/G] NM_001135218,NM_005644 TAF12,TAF12 EXON Missense_I18T,Missense_I18T rs143237519 1 28951973 [T/C] NM_001135218,NM_005644 TAF12,TAF12 Silent,Silent JHU_1.28962338 1 28962339 [A/T] NM_001135218,NM_005644 TAF12,TAF12 Silent,Silent rs12142346 1 28971281 [A/G] NR_146730,NR_146731 LINC01715,LINC01715 Silent,Silent rs145460127 1 28971308 [A/G] NR_146730,NR_146731 LINC01715,LINC01715 Silent,Silent JHU_1.28973798 1 28973799 [T/G] NR_146730,NR_146731 LINC01715,LINC01715 Silent,Silent 1:28975557-A-G 1 28975557 [A/G] rs9426298 1 28990922 [A/G] JHU_1.29002292 1 29002293 [G/C] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 Silent,Silent,Silent rs116372740 1 29002392 [C/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 Silent,Silent,Silent 1:29010132-AC 1 29010132 [A/C] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 EXON Missense_N3T,Missense_N3T,Missense_N3T exm37927 1 29010147 [T/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 EXON Missense_V8G,Missense_V8G,Missense_V8G rs4654361 1 29013516 [A/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 Silent,Silent,Silent JHU_1.29013900 1 29013901 [A/C] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 Silent,Silent,Silent 1:29018115-CT 1 29018115 [T/C] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 EXON Missense_A87V,Missense_A77V,Missense_A77V JHU_1.29025746 1 29025747 [A/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 Silent,Silent,Silent 1:29029024-GA 1 29029024 [A/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 EXON Missense_A235T,Missense_A225T,Missense_A225T 1:29029042-AC 1 29029042 [A/C] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 EXON Missense_T241P,Missense_T231P,Missense_T231P JHU_1.29029900 1 29029901 [T/C] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 Silent,Silent,Silent exm37950 1 29037143 [A/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 EXON Missense_Y337C,Missense_Y327C,Missense_Y327C exm37972 1 29041227 [A/G] NM_006582,NM_001319674,NM_024482 GMEB1,GMEB1,GMEB1 EXON Missense_E555G,Missense_E545G,Missense_E545G rs61787565 1 29053711 [T/G] rs72663851 1 29059972 [T/C] rs6697540 1 29063559 [A/C] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Silent,Silent,Silent exm37977 1 29063648 [G/C] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_L6V,Missense_L6V,Silent 1:29069221-TC 1 29069221 [T/C] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_S147P,Missense_S147P,Missense_S97P exm37994 1 29069432 [C/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_T217S,Missense_T217S,Missense_T167S rs61787570 1 29069443 [A/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_V221M,Missense_V221M,Missense_V171M exm37995 1 29069443 [A/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_V221M,Missense_V221M,Missense_V171M rs180708374 1 29069453 [A/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_N224S,Missense_N224S,Missense_N174S exm37997 1 29069453 [A/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_N224S,Missense_N224S,Missense_N174S 1:29069866-GA 1 29069866 [A/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 EXON Missense_G362S,Missense_G362S,Missense_G312S JHU_1.29070658 1 29070659 [T/C] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 Silent,Silent,Silent JHU_1.29070674 1 29070675 [T/C] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 Silent,Silent,Silent rs144060624 1 29070937 [T/C] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 Silent,Silent,Silent rs7520756 1 29080166 [T/C] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 Silent,Silent,Silent JHU_1.29081495 1 29081496 [A/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 Silent,Silent,Silent 1:29085543-A-G 1 29085543 [A/G] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 Silent,Silent,Silent rs112442233 1 29110984 [T/C] rs606411 1 29115265 [T/C] rs147197588 1 29116997 [A/C] rs79174674 1 29118976 [A/G] JHU_1.29121206 1 29121207 [G/C] rs1338064 1 29123347 [T/C] rs113518233 1 29127730 [T/C] rs56696786 1 29130292 [A/G] 1:29131710-T-C 1 29131710 [T/C] JHU_1.29135364 1 29135365 [T/C] 1:29136686-A-G 1 29136686 [A/G] exm38024 1 29139038 [T/A] NM_000911 OPRD1 EXON Missense_L48Q rs2236861_ilmndup1 1 29139756 [A/G] NM_000911 OPRD1 Silent rs2236861 1 29139756 [A/G] NM_000911 OPRD1 Silent rs57553462 1 29140112 [G/C] NM_000911 OPRD1 Silent rs117433243 1 29140636 [A/G] NM_000911 OPRD1 Silent rs678849_ilmndup1 1 29145188 [T/C] NM_000911 OPRD1 Silent rs678849 1 29145188 [T/C] NM_000911 OPRD1 Silent JHU_1.29148469 1 29148470 [T/C] NM_000911 OPRD1 Silent rs6669447 1 29149361 [T/C] NM_000911 OPRD1 Silent rs797397 1 29151183 [A/G] NM_000911 OPRD1 Silent rs4654322 1 29151245 [T/C] NM_000911 OPRD1 Silent rs204055 1 29159373 [T/C] NM_000911 OPRD1 Silent rs2236857 1 29161609 [T/C] NM_000911 OPRD1 Silent 1:29161999-C-A 1 29161999 [A/C] NM_000911 OPRD1 Silent rs143630287 1 29162524 [A/G] NM_000911 OPRD1 Silent rs204051 1 29166578 [A/G] NM_000911 OPRD1 Silent rs3766951 1 29169559 [T/C] NM_000911 OPRD1 Silent JHU_1.29172304 1 29172305 [T/C] NM_000911 OPRD1 Silent rs595725 1 29172715 [A/C] NM_000911 OPRD1 Silent JHU_1.29172940 1 29172941 [A/C] NM_000911 OPRD1 Silent rs529520 1 29174946 [A/C] NM_000911 OPRD1 Silent 1:29174946-A-C 1 29174946 [A/C] NM_000911 OPRD1 Silent rs529520_ilmndup1 1 29174946 [A/C] NM_000911 OPRD1 Silent rs581111_ilmndup1 1 29175373 [A/G] NM_000911 OPRD1 Silent rs581111 1 29175373 [A/G] NM_000911 OPRD1 Silent rs6671092 1 29175757 [T/A] NM_000911 OPRD1 Silent rs12749204 1 29176213 [A/G] NM_000911 OPRD1 Silent JHU_1.29181089 1 29181090 [G/C] NM_000911 OPRD1 Silent exm2264812 1 29181525 [A/G] NM_000911 OPRD1 Silent rs508448 1 29181525 [A/G] NM_000911 OPRD1 Silent JHU_1.29181886 1 29181887 [A/G] NM_000911 OPRD1 Silent 1:29185465-GA 1 29185465 [A/G] NM_000911 OPRD1 Silent 1:29185717-GA 1 29185717 [A/G] NM_000911 OPRD1 EXON Missense_R160H exm38046 1 29185785 [A/G] NM_000911 OPRD1 EXON Missense_I183V 1:29189458-GT 1 29189458 [T/G] NM_000911 OPRD1 EXON Missense_R261L rs202095557 1 29189458 [T/G] NM_000911 OPRD1 EXON Missense_R261L exm2233139 1 29189469 [G/C] NM_000911 OPRD1 EXON Missense_V265L exm2233140 1 29189487 [T/G] NM_000911 OPRD1 EXON Missense_V271L 1:29189557-CA 1 29189557 [A/C] NM_000911 OPRD1 EXON Missense_P294Q exm38066 1 29189601 [A/G] NM_000911 OPRD1 EXON Missense_A309T 1:29189692-GA 1 29189692 [A/G] NM_000911 OPRD1 EXON Missense_R339H 1:29190138-G-A 1 29190138 [A/G] NM_000911 OPRD1 EXON Silent rs4654327 1 29190138 [A/G] NM_000911 OPRD1 EXON Silent rs4654327_ilmndup1 1 29190138 [A/G] NM_000911 OPRD1 EXON Silent rs204076 1 29190390 [A/T] rs74065134 1 29193314 [A/G] rs204069 1 29194818 [A/G] exm2268873 1 29194901 [T/C] JHU_1.29195487 1 29195488 [T/C] JHU_1.29196018 1 29196019 [T/C] rs7511894 1 29200219 [T/C] JHU_1.29200327 1 29200328 [A/G] rs116605743 1 29200506 [A/G] rs157198 1 29203907 [T/C] JHU_1.29209059 1 29209060 [T/C] rs144006354 1 29210372 [C/G] rs141125706 1 29212500 [T/G] JHU_1.29213333 1 29213334 [A/C] rs116534679 1 29215737 [G/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent rs41266191 1 29220201 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent rs111945390 1 29222014 [A/T] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent JHU_1.29223340 1 29223341 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent JHU_1.29229837 1 29229838 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent rs16837769 1 29237550 [A/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent rs157208 1 29245406 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs146761153 1 29247044 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs190656562 1 29247627 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs77485135 1 29248044 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent 1:29249452-C-T 1 29249452 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs189734 1 29250769 [G/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs12122962 1 29252322 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs75170128 1 29253011 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29254697 1 29254698 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs56277636 1 29255142 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs12038347 1 29268716 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs74874478 1 29272066 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent 1:29275059-T-A 1 29275059 [T/A] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs4654381 1 29279387 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs10915212 1 29288008 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs114919774 1 29289406 [A/T] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs116815648 1 29292857 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs140441583 1 29293193 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs142598707 1 29294076 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29295494 1 29295495 [A/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29296002 1 29296003 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29298918 1 29298919 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent 1:29299009-A-G 1 29299009 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent 1:29313969-TC 1 29313969 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_L7S,Missense_L7S,Silent,Silent,Missense_L7S rs75060926 1 29313973 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Synonymous_V8V,Synonymous_V8V,Silent,Silent,Synonymous_V8V 1:29314121-GA 1 29314121 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_G58R,Missense_G58R,Silent,Silent,Missense_G58R rs144499540 1 29314121 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_G58R,Missense_G58R,Silent,Silent,Missense_G58R rs200653172 1 29314164 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_R72Q,Missense_R72Q,Silent,Silent,Missense_R72Q exm38083 1 29314212 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_K88R,Missense_K88R,Silent,Silent,Missense_K88R exm38084 1 29314302 [A/T] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_F118Y,Missense_F118Y,Silent,Silent,Missense_F118Y indel.2095 1 29314418 [I/D] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 rs2985327 1 29319480 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent exm2233142 1 29319893 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_E174K,Missense_E174K,Silent,Silent,Missense_E174K 1:29319968-GT 1 29319968 [T/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_A199S,Missense_A199S,Silent,Silent,Missense_A199S exm38093 1 29320013 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V5I,Missense_V214I,Missense_V214I,Missense_V5I,Missense_V5I,Missense_V214I exm38094 1 29320034 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V12I,Missense_V221I,Missense_V221I,Missense_V12I,Missense_V12I,Missense_V221I rs138222761 1 29323868 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29331447 1 29331448 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29334773 1 29334774 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29335362 1 29335363 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs111396911 1 29335384 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29337021 1 29337022 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29337241 1 29337242 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29338050 1 29338051 [T/A] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent 1:29338392-GA 1 29338392 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_A59T,Missense_A268T,Missense_A233T,Missense_A59T,Missense_A59T,Missense_A268T exm38103 1 29338416 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R67C,Missense_R276C,Missense_R241C,Missense_R67C,Missense_R67C,Missense_R276C JHU_1.29340367 1 29340368 [A/T] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs116953216 1 29341391 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent exm38106 1 29342206 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V69I,Missense_V278I,Missense_V243I,Missense_V69I,Missense_V69I,Missense_V278I rs139383221 1 29343751 [C/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent variant.2096 1 29344823 [A/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Nonsense_Y122X,Nonsense_Y331X,Nonsense_Y296X,Nonsense_Y122X,Nonsense_Y122X,Nonsense_Y331X variant.2097 1 29344955 [T/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs2985334 1 29345027 [T/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs116987971 1 29350470 [A/T] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs141875386 1 29352432 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs148784877 1 29356970 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_M186V,Missense_M395V,Missense_M360V,Missense_M186V,Missense_M186V,Missense_M395V exm38116 1 29356970 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_M186V,Missense_M395V,Missense_M360V,Missense_M186V,Missense_M186V,Missense_M395V exm38117 1 29356974 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_Y187C,Missense_Y396C,Missense_Y361C,Missense_Y187C,Missense_Y187C,Missense_Y396C JHU_1.29357858 1 29357859 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent 1:29359723-GA 1 29359723 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R235H,Missense_R444H,Missense_R409H,Missense_R235H,Missense_R235H,Missense_R444H JHU_1.29362750 1 29362751 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs2486200 1 29363985 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29364394 1 29364395 [A/T] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent 1:29365807-CT 1 29365807 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_A293V,Missense_A502V,Missense_A467V,Missense_A293V,Missense_A293V,Missense_A502V rs116931015 1 29372619 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent 1:29373882-A-G 1 29373882 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.29376446 1 29376447 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent 1:29379649-GA 1 29379649 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R348Q,Missense_R557Q,Missense_R522Q,Missense_R348Q,Missense_R348Q,Missense_R557Q 1:29379654-CACTTCTGCA-C 1 29379654 [I/D] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON exm38139 1 29379679 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_G358D,Missense_G567D,Missense_G532D,Missense_G358D,Missense_G358D,Missense_G567D 1:29379810-AG 1 29379810 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_T402A,Missense_T611A,Missense_T576A,Missense_T402A,Missense_T402A,Missense_T611A rs41266195 1 29379889 [G/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent exm38146 1 29385153 [C/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_T633R,Silent,Silent,Missense_T424R,Missense_T633R exm38147 1 29385350 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Missense_I644V,Silent,Silent,Silent,Silent JHU_1.29387261 1 29387262 [A/T] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs142267469 1 29391585 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R437Q,Missense_R700Q,Missense_R611Q,Missense_R458Q,Missense_R477Q,Missense_R686Q exm1788336 1 29391585 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R437Q,Missense_R700Q,Missense_R611Q,Missense_R458Q,Missense_R477Q,Missense_R686Q chr1_29391614 1 29391614 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_T447A,Missense_T710A,Missense_T621A,Missense_T468A,Missense_T487A,Missense_T696A 1:29391636-TC 1 29391636 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_L454P,Missense_L717P,Missense_L628P,Missense_L475P,Missense_L494P,Missense_L703P rs12130351 1 29396947 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent JHU_1.29397789 1 29397790 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent 1:29411250-A-G 1 29411250 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent rs6702335 1 29411250 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent JHU_1.29422532 1 29422533 [T/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent 1:29424391-AG 1 29424391 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_K490E,Missense_K753E,Missense_K664E,Missense_K511E,Missense_K530E exm38163 1 29424419 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_T499I,Missense_T762I,Missense_T673I,Missense_T520I,Missense_T539I rs12045777 1 29429004 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent JHU_1.29436528 1 29436529 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent 1:29438902-AG 1 29438902 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_E550G,Missense_E813G,Missense_E724G,Missense_E537G,Missense_E590G exm38169 1 29438907 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R552C,Missense_R815C,Missense_R726C,Missense_R539C,Missense_R592C rs148459745 1 29438907 [T/C] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R552C,Missense_R815C,Missense_R726C,Missense_R539C,Missense_R592C rs2249138 1 29443723 [A/G] NM_001166007,NM_001166005,NM_203343,NM_004437,NM_203342 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Silent,Silent,Silent,Silent rs2452788 1 29446811 [A/G] NM_001171868,NM_001003682 TMEM200B,TMEM200B EXON Silent,Silent exm38189 1 29447722 [A/G] NM_001171868,NM_001003682 TMEM200B,TMEM200B EXON Missense_R207C,Missense_R207C 1:29447825-GT 1 29447825 [T/G] NM_001171868,NM_001003682 TMEM200B,TMEM200B EXON Missense_S172R,Missense_S172R exm38196 1 29447886 [A/G] NM_001171868,NM_001003682 TMEM200B,TMEM200B EXON Missense_L152P,Missense_L152P exm38207 1 29448334 [T/C] NM_001171868,NM_001003682 TMEM200B,TMEM200B EXON Missense_A3T,Missense_A3T rs11800465 1 29454479 [A/G] rs77280685 1 29463512 [G/C] rs12032470 1 29464954 [A/C] JHU_1.29473550 1 29473551 [A/G] 1:29475176-CT 1 29475176 [T/C] NM_005626 SRSF4 EXON Missense_V411M 1:29475179-GAGC-G 1 29475179 [I/D] NM_005626 SRSF4 EXON 1:29475219-CCTT-C 1 29475219 [I/D] NM_005626 SRSF4 EXON 1:29475221-TC 1 29475221 [T/C] NM_005626 SRSF4 EXON Missense_K396E exm38234 1 29475308 [A/G] NM_005626 SRSF4 EXON Missense_R367C 1:29475367-CT 1 29475367 [T/C] NM_005626 SRSF4 EXON Missense_R347H 1:29475385-CT 1 29475385 [T/C] NM_005626 SRSF4 EXON Missense_R341K exm38238 1 29475394 [G/C] NM_005626 SRSF4 EXON Missense_G338A 1:29475403-CT 1 29475403 [T/C] NM_005626 SRSF4 EXON Missense_R335K exm38252 1 29475542 [A/G] NM_005626 SRSF4 EXON Missense_R289W exm38257 1 29475648 [T/G] NM_005626 SRSF4 EXON Missense_E253D 1:29475693-A-ACTCTGG 1 29475693 [I/D] NM_005626 SRSF4 EXON 1:29481241-CT 1 29481241 [T/C] NM_005626 SRSF4 EXON Missense_R182H 1:29481257-GA 1 29481257 [A/G] NM_005626 SRSF4 EXON Missense_P177S rs10915234 1 29488047 [A/G] NM_005626 SRSF4 Silent rs116998340 1 29488549 [T/G] NM_005626 SRSF4 Silent JHU_1.29501014 1 29501015 [A/G] NM_005626 SRSF4 Silent JHU_1.29504867 1 29504868 [T/C] NM_005626 SRSF4 Silent rs115423512 1 29517352 [T/C] exm-rs2640464 1 29519778 [T/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2640464 1 29519778 [T/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75032821 1 29519924 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm38280 1 29520542 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_T296A,Silent,Silent,Missense_T296A,Silent,Missense_T407A,Missense_T296A,Missense_T296A,Missense_T400A,Missense_T372A,Missense_T322A,Missense_T296A exm38282 1 29520550 [T/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_Q293P,Silent,Silent,Missense_Q293P,Silent,Missense_Q404P,Missense_Q293P,Missense_Q293P,Missense_Q397P,Missense_Q369P,Missense_Q319P,Missense_Q293P rs142690226 1 29522609 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:29522736-CT 1 29522736 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_A213T,Silent,Silent,Missense_A213T,Silent,Missense_A324T,Missense_A213T,Missense_A213T,Missense_A317T,Missense_A289T,Missense_A239T,Missense_A213T exm38297 1 29527028 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_A201V,Silent,Silent,Missense_A201V,Silent,Missense_A312V,Missense_A201V,Missense_A201V,Missense_A305V,Missense_A277V,Missense_A227V,Missense_A201V exm38300 1 29527085 [A/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_R182L,Silent,Silent,Missense_R182L,Silent,Missense_R293L,Missense_R182L,Missense_R182L,Missense_R286L,Missense_R258L,Missense_R208L,Missense_R182L 1:29527898-GA 1 29527898 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:29527975-TG 1 29527975 [T/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.2103 1 29528450 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm38312 1 29528531 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_R151K,Silent,Silent,Missense_R151K,Silent,Missense_R262K,Missense_R151K,Missense_R151K,Missense_R255K,Missense_R227K,Missense_R177K,Missense_R151K indel.2105 1 29528534 [D/I] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON 1:29529649-CT 1 29529649 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_R140Q,Silent,Silent,Missense_R140Q,Silent,Missense_R251Q,Missense_R140Q,Missense_R140Q,Missense_R244Q,Missense_R216Q,Missense_R166Q,Missense_R140Q 1:29529683-CT 1 29529683 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_A129T,Silent,Silent,Missense_A129T,Silent,Missense_A240T,Missense_A129T,Missense_A129T,Missense_A233T,Missense_A205T,Missense_A155T,Missense_A129T 1:29529700-GA 1 29529700 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_A123V,Silent,Silent,Missense_A123V,Silent,Missense_A234V,Missense_A123V,Missense_A123V,Missense_A227V,Missense_A199V,Missense_A149V,Missense_A123V exm38322 1 29529713 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_G119R,Silent,Silent,Missense_G119R,Silent,Missense_G230R,Missense_G119R,Missense_G119R,Missense_G223R,Missense_G195R,Missense_G145R,Missense_G119R 1:29529743-CA 1 29529743 [A/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_D109Y,Silent,Silent,Missense_D109Y,Silent,Missense_D220Y,Missense_D109Y,Missense_D109Y,Missense_D213Y,Missense_D185Y,Missense_D135Y,Missense_D109Y rs116966553 1 29530520 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm38327 1 29533289 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_E103K,Silent,Silent,Missense_E103K,Silent,Missense_E214K,Missense_E103K,Missense_E103K,Missense_E207K,Missense_E179K,Missense_E129K,Missense_E103K rs2452785 1 29533601 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent chr1:29533601 1 29533601 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1788574 1 29542573 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_S41N,Silent,Silent,Missense_S41N,Silent,Missense_S152N,Missense_S41N,Missense_S41N,Missense_S145N,Missense_S117N,Missense_S67N,Missense_S41N exm38335 1 29542582 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_A38V,Silent,Silent,Missense_A38V,Silent,Missense_A149V,Missense_A38V,Missense_A38V,Missense_A142V,Missense_A114V,Missense_A64V,Missense_A38V exm38336 1 29542636 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_F20S,Silent,Silent,Missense_F20S,Silent,Missense_F131S,Missense_F20S,Missense_F20S,Missense_F124S,Missense_F96S,Missense_F46S,Missense_F20S rs1128400 1 29542637 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_F20L,Silent,Silent,Missense_F20L,Silent,Missense_F131L,Missense_F20L,Missense_F20L,Missense_F124L,Missense_F96L,Missense_F46L,Missense_F20L exm38337 1 29542637 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Missense_F20L,Silent,Silent,Missense_F20L,Silent,Missense_F131L,Missense_F20L,Missense_F20L,Missense_F124L,Missense_F96L,Missense_F46L,Missense_F20L rs2640467 1 29556158 [T/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:29557256-CA 1 29557256 [A/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A55S,Silent,Silent,Missense_A55S,Missense_A55S,Missense_Q7H,Silent 1:29557301-GA 1 29557301 [A/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P40S,Silent,Silent,Missense_P40S,Missense_P40S,Silent,Silent 1:29557317-GT 1 29557317 [T/G] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Y34X,Silent,Silent,Nonsense_Y34X,Nonsense_Y34X,Silent,Silent exm38347 1 29557367 [G/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R18G,Silent,Silent,Missense_R18G,Missense_R18G,Silent,Silent exm38350 1 29557390 [A/C] NR_146214,NM_001349712,NR_146212,NR_146213,NM_001349714,NR_146215,NM_001349715,NM_001349713,NM_001349711,NM_001349716,NM_016011,NM_001349717,NM_001024732 MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR,MECR EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V10G,Silent,Silent,Missense_V10G,Missense_V10G,Silent,Silent rs2503011 1 29558468 [T/C] JHU_1.29560967 1 29560968 [A/C] rs34095513 1 29565609 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs11810941 1 29565882 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29566713 1 29566714 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent 1:29568092-C-T 1 29568092 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs7349137 1 29569212 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29570151 1 29570152 [C/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29572051 1 29572052 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent 1:29575565-A-T 1 29575565 [T/A] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29575665 1 29575666 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs74065293 1 29576461 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs12401971 1 29581381 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent 1:29581892-CA 1 29581892 [A/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_T60N,Missense_T60N,Missense_T60N,Missense_T60N exm38360 1 29581894 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R61W,Missense_R61W,Missense_R61W,Missense_R61W exm38361 1 29581895 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R61Q,Missense_R61Q,Missense_R61Q,Missense_R61Q JHU_1.29582662 1 29582663 [A/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs77830010 1 29584056 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs4654400 1 29584271 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent chr1_29585839 1 29585839 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_L182F,Missense_L182F,Missense_L182F,Missense_L182F 1:29585982-GA 1 29585982 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R194H,Missense_R194H,Missense_R194H,Missense_R194H 1:29586493-CA 1 29586493 [A/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R263S,Missense_R263S,Missense_R263S,Missense_R263S rs12404526 1 29586703 [A/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38399 1 29587158 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R296H,Missense_R296H,Missense_R296H,Missense_R296H chr1_29587266 1 29587266 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A332V,Missense_A332V,Missense_A332V,Missense_A332V JHU_1.29587362 1 29587363 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Synonymous_D364D,Synonymous_D364D,Synonymous_D364D,Synonymous_D364D exm38406 1 29587407 [A/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_K379T,Missense_K379T,Missense_K379T,Missense_K379T JHU_1.29590027 1 29590028 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29592534 1 29592535 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29593409 1 29593410 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29596325 1 29596326 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs72478551 1 29598632 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29598655 1 29598656 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38418 1 29602227 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R471L,Missense_R471L,Missense_R471L,Missense_R471L rs10799128 1 29603999 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs75521358 1 29604658 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent 1:29605541-GT 1 29605541 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A491S,Missense_A491S,Missense_A491S,Missense_A491S exm38429 1 29606010 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V536M,Missense_V536M,Missense_V536M,Missense_V536M 1KG_1_29606117 1 29606117 [D/I] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON JHU_1.29607193 1 29607194 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs4654299 1 29608356 [A/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38447 1 29609217 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R633Q,Missense_R633Q,Missense_R633Q,Missense_R633Q exm38449 1 29609232 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R638L,Missense_R638L,Missense_R638L,Missense_R638L exm38457 1 29609327 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A670T,Missense_A670T,Missense_A670T,Missense_A670T exm38458 1 29609328 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A670V,Missense_A670V,Missense_A670V,Missense_A670V 1:29610465-AG 1 29610465 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_N719S,Missense_N719S,Missense_N719S,Missense_N719S exm38467 1 29611369 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_I769T,Missense_I769T,Missense_I769T,Missense_I769T 1:29611375-GA 1 29611375 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R771H,Missense_R771H,Missense_R771H,Missense_R771H exm38470 1 29616224 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Silent,Silent,Silent,Missense_P783L rs61783730 1 29618146 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29618145 1 29618146 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38477 1 29618454 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R798C,Missense_R798C,Missense_R798C,Missense_R808C rs79274972 1 29621448 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs7518159 1 29621460 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs9426315 1 29625375 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29626142 1 29626143 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent 1:29630382-GT 1 29630382 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_G831V,Missense_G831V,Missense_G831V,Missense_G841V exm38492 1 29630478 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A863V,Missense_A863V,Missense_A863V,Missense_A873V JHU_1.29631781 1 29631782 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent 1:29631870-GA 1 29631870 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R917Q,Missense_R917Q,Missense_R917Q,Missense_R927Q 1:29633653-CT 1 29633653 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Silent,Nonsense_R945X,Silent,Silent JHU_1.29635859 1 29635860 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs75978936 1 29636255 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs12750592 1 29636759 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent 1:29637991-GA 1 29637991 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_D961N,Missense_D967N,Missense_D961N,Missense_D971N exm38527 1 29638016 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_E969G,Missense_E975G,Missense_E969G,Missense_E979G exm38532 1 29638036 [T/A] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_M976L,Missense_M982L,Missense_M976L,Missense_M986L exm38543 1 29639127 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V1046I,Missense_V1052I,Missense_V1043I,Missense_V1056I exm38546 1 29639166 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R1059C,Missense_R1065C,Missense_R1056C,Missense_R1069C rs11811458 1 29640621 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent chr1_29641970 1 29641970 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_N1105S,Missense_N1111S,Missense_N1102S,Missense_N1115S 1:29641993-CT 1 29641993 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R1113W,Missense_R1119W,Missense_R1110W,Missense_R1123W JHU_1.29642289 1 29642290 [T/A] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38558 1 29642614 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_I1155S,Missense_I1161S,Missense_I1152S,Missense_I1165S rs77434761 1 29643052 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29643880 1 29643881 [T/A] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38566 1 29644279 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_P1178L,Missense_P1184L,Missense_P1175L,Missense_P1188L exm38571 1 29644320 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R1192W,Missense_R1198W,Missense_R1189W,Missense_R1202W 1:29644339-GA 1 29644339 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R1198H,Missense_R1204H,Missense_R1195H,Missense_R1208H 1:29644350-GA 1 29644350 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V1202I,Missense_V1208I,Missense_V1199I,Missense_V1212I variant.2110 1 29644433 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Synonymous_D1229D,Synonymous_D1235D,Synonymous_D1226D,Synonymous_D1239D rs2007350 1 29646127 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29646499 1 29646500 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29646838 1 29646839 [A/T] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent 1:29647212-GA 1 29647212 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A1235T,Missense_A1241T,Missense_A1232T,Missense_A1245T rs12749276 1 29649189 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent 1:29649950-CT 1 29649950 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_S1299L,Missense_S1305L,Missense_S1296L,Missense_S1309L rs112249703 1 29650499 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent JHU_1.29651292 1 29651293 [T/C] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs2235942 1 29651412 [T/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38608 1 29651740 [A/G] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A1384T,Missense_A1388T,Missense_A1381T,Missense_A1394T exm38613 1 29652154 [A/T] NM_133178,NM_133177,NM_001195001,NM_005704 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_E1431V,Missense_E1435V,Missense_E1428V,Missense_E1441V rs12402313 1 29655656 [A/G] rs7530986 1 29658494 [T/C] NR_110758 LINC01756 Silent JHU_1.29667664 1 29667665 [T/G] NR_110758 LINC01756 Silent rs212312 1 29670096 [T/A] NR_110758 LINC01756 Silent rs78184012 1 29672356 [A/G] NR_110758 LINC01756 Silent JHU_1.29672996 1 29672997 [A/G] NR_110758 LINC01756 Silent JHU_1.29673088 1 29673089 [T/C] NR_110758 LINC01756 Silent rs4654302 1 29673112 [A/G] NR_110758 LINC01756 Silent JHU_1.29673210 1 29673211 [A/G] NR_110758 LINC01756 Silent rs9426422 1 29674525 [T/C] NR_110758 LINC01756 Silent rs41266217 1 29676511 [T/C] NR_110758 LINC01756 EXON Silent rs761430 1 29678774 [A/C] JHU_1.29679445 1 29679446 [C/G] rs10753335 1 29682495 [T/C] JHU_1.29684363 1 29684364 [C/G] JHU_1.29684402 1 29684403 [A/T] JHU_1.29685026 1 29685027 [A/G] rs77743876 1 29685757 [A/C] rs115863185 1 29686876 [T/G] JHU_1.29688145 1 29688146 [A/G] rs116350420 1 29688391 [A/G] JHU_1.29688424 1 29688425 [T/C] rs12144761 1 29689942 [A/T] rs143449138 1 29691296 [T/C] JHU_1.29691962 1 29691963 [T/C] JHU_1.29694472 1 29694473 [A/C] rs1325280 1 29695231 [A/G] JHU_1.29698467 1 29698468 [A/G] JHU_1.29698652 1 29698653 [A/G] rs79941313 1 29698653 [A/G] JHU_1.29702183 1 29702184 [T/C] rs113475419 1 29704832 [A/G] JHU_1.29704919 1 29704920 [A/G] rs1886651 1 29707412 [A/G] JHU_1.29707670 1 29707671 [T/C] rs114240992 1 29708551 [T/C] rs79974206 1 29711102 [A/G] rs2092616 1 29711466 [A/G] JHU_1.29712972 1 29712973 [T/C] rs111383172 1 29713540 [T/C] rs4654335 1 29716931 [A/G] JHU_1.29717651 1 29717652 [T/C] JHU_1.29718190 1 29718191 [T/G] JHU_1.29718377 1 29718378 [T/C] JHU_1.29718466 1 29718467 [A/G] JHU_1.29718527 1 29718528 [T/C] JHU_1.29718850 1 29718851 [T/C] JHU_1.29718864 1 29718865 [G/C] rs742801 1 29718865 [G/C] rs212306 1 29719475 [A/G] rs12403476 1 29719590 [A/G] JHU_1.29720041 1 29720042 [A/G] rs409378 1 29721607 [T/C] rs383699 1 29721862 [A/C] rs9426330 1 29722399 [T/C] rs212290 1 29722553 [A/G] rs212297 1 29723516 [T/C] rs80055107 1 29723749 [T/C] rs11579700 1 29724357 [T/A] JHU_1.29724611 1 29724612 [A/G] rs6671744 1 29732223 [T/G] JHU_1.29732898 1 29732899 [T/C] JHU_1.29736373 1 29736374 [A/G] JHU_1.29739081 1 29739082 [A/G] JHU_1.29739111 1 29739112 [A/C] rs4654339 1 29742743 [T/C] rs6657309 1 29743408 [A/G] rs1408857 1 29743630 [T/C] rs180912386 1 29745094 [T/G] rs137992668 1 29745416 [T/A] JHU_1.29745891 1 29745892 [T/G] rs9426438 1 29745933 [T/C] rs116673836 1 29749879 [A/G] rs12085934 1 29753125 [T/G] JHU_1.29753689 1 29753690 [T/C] JHU_1.29754384 1 29754385 [A/C] rs10915271 1 29754510 [A/G] rs7529591 1 29755064 [T/C] rs1359465 1 29756066 [T/C] rs142450552 1 29758485 [T/C] rs12408864 1 29759970 [A/G] rs9426354 1 29763684 [T/C] rs4654342 1 29765644 [T/C] rs1408860 1 29765955 [A/G] rs6685390 1 29766120 [A/G] rs1408859 1 29766149 [A/G] JHU_1.29766895 1 29766896 [A/G] rs12144024 1 29767522 [T/C] JHU_1.29768295 1 29768296 [T/G] rs115359593 1 29769023 [T/G] rs61783765 1 29772790 [T/A] rs4654344 1 29773040 [T/C] rs61783767 1 29774207 [T/C] rs6663660 1 29774262 [T/C] JHU_1.29774610 1 29774611 [A/G] JHU_1.29775199 1 29775200 [T/C] rs7550835 1 29775442 [A/G] rs114061885 1 29775868 [A/G] rs4654347 1 29779305 [T/C] rs75800900 1 29779573 [T/C] rs59664751 1 29780553 [T/C] rs7514218 1 29780757 [T/C] rs4654349 1 29781221 [T/C] 1:29781266-T-C 1 29781266 [T/C] JHU_1.29782041 1 29782042 [A/G] rs10915285 1 29782051 [A/G] JHU_1.29782590 1 29782591 [A/T] rs4654351 1 29783755 [A/C] rs10799138 1 29786328 [A/G] rs4654352 1 29789343 [A/G] rs927727 1 29793205 [A/C] rs9426361 1 29794729 [A/G] rs4654314 1 29796218 [T/C] rs75368267 1 29797551 [T/C] rs1325281 1 29799510 [T/C] rs9426464 1 29800081 [T/C] JHU_1.29801282 1 29801283 [A/C] rs10753340 1 29801368 [A/C] rs6694109 1 29801397 [A/C] rs1983854 1 29802223 [A/G] rs1983855 1 29802337 [A/G] JHU_1.29804612 1 29804613 [A/C] rs6703665 1 29810705 [A/G] rs77353797 1 29811656 [T/G] rs11811130 1 29811762 [T/C] rs147346868 1 29812138 [T/C] rs11586865 1 29813268 [A/G] rs4991543 1 29815348 [T/C] JHU_1.29815416 1 29815417 [A/G] rs4078312 1 29815645 [T/C] rs34759825 1 29816110 [T/A] rs12140721 1 29816651 [T/G] rs6664690 1 29827798 [T/C] JHU_1.29829628 1 29829629 [A/T] rs12141775 1 29830939 [A/G] JHU_1.29834463 1 29834464 [T/C] rs9426279 1 29835996 [T/C] rs142269444 1 29837136 [A/C] JHU_1.29837438 1 29837439 [A/C] rs9426378 1 29841575 [A/C] rs76034269 1 29842526 [A/G] JHU_1.29844600 1 29844601 [A/G] JHU_1.29848395 1 29848396 [T/G] JHU_1.29856586 1 29856587 [A/C] rs10915172 1 29856844 [T/C] rs76593791 1 29859657 [T/C] JHU_1.29860303 1 29860304 [A/C] rs55807390 1 29860930 [A/G] rs6426343 1 29865107 [T/C] JHU_1.29865686 1 29865687 [T/C] rs10915179 1 29867654 [T/C] rs6677824 1 29867677 [T/C] exm2264813 1 29868073 [A/G] rs6700641 1 29868073 [A/G] rs6605085 1 29869915 [A/G] JHU_1.29872179 1 29872180 [T/C] JHU_1.29872399 1 29872400 [A/G] JHU_1.29872491 1 29872492 [T/C] JHU_1.29872602 1 29872603 [A/G] rs77561618 1 29872946 [T/C] rs72652650 1 29872999 [A/C] rs66993133 1 29873230 [C/G] rs72652652 1 29873726 [T/C] rs35315619 1 29874218 [T/C] rs36053581 1 29874354 [T/C] kgp3354187 1 29874768 [A/G] rs75444266 1 29874859 [T/C] kgp883624 1 29875347 [A/G] rs79299148 1 29876873 [T/C] JHU_1.30028087 1 30028088 [A/G] rs113875369 1 30029277 [T/C] rs28667493 1 30029709 [A/G] rs72652661 1 30029845 [T/C] JHU_1.30030063 1 30030064 [T/C] rs114990209 1 30030484 [A/G] JHU_1.30030507 1 30030508 [A/G] JHU_1.30030655 1 30030656 [T/C] JHU_1.30030736 1 30030737 [T/C] rs55875980 1 30030779 [T/C] JHU_1.30030791 1 30030792 [A/G] JHU_1.30030816 1 30030817 [T/C] JHU_1.30031037 1 30031038 [A/G] JHU_1.30031061 1 30031062 [T/C] rs57089413 1 30031249 [A/G] rs4078350 1 30032065 [C/G] rs78617396 1 30033960 [A/C] rs184783746 1 30035007 [A/G] rs58819280 1 30037223 [T/C] rs28407457 1 30037380 [T/G] rs74066626 1 30037903 [A/G] rs28589362 1 30039872 [A/G] rs61763944 1 30042538 [A/G] rs28435157 1 30043064 [T/C] rs28642068 1 30044677 [A/G] rs140664894 1 30045444 [A/T] rs71644138 1 30046713 [A/G] rs3924677 1 30048468 [A/G] rs72652674 1 30050512 [C/G] rs72652677 1 30051303 [T/C] rs117821946 1 30053600 [A/G] JHU_1.30053700 1 30053701 [T/C] rs6603927 1 30064009 [A/G] JHU_1.30065352 1 30065353 [T/C] JHU_1.30066113 1 30066114 [T/G] rs10915035 1 30067017 [A/C] rs117836727 1 30068591 [A/T] JHU_1.30069260 1 30069261 [T/C] JHU_1.30072587 1 30072588 [A/G] rs80353233 1 30072685 [A/G] rs9729975 1 30073828 [A/G] rs9725360 1 30078751 [T/C] rs55715746 1 30080845 [T/G] rs72652685 1 30080856 [T/G] JHU_1.30081590 1 30081591 [T/C] rs61436948 1 30081783 [T/C] rs199611 1 30081965 [A/C] rs10798895 1 30086662 [A/G] rs79327536 1 30088867 [T/C] JHU_1.30092573 1 30092574 [A/G] rs35522874 1 30092574 [A/G] JHU_1.30093060 1 30093061 [A/C] rs9729003 1 30093568 [A/G] rs271321 1 30098510 [T/G] rs9286944 1 30098743 [A/G] rs115862160 1 30098870 [T/C] rs9286945 1 30101569 [T/C] rs271316 1 30102340 [T/G] JHU_1.30103582 1 30103583 [G/C] rs2889446 1 30110199 [A/G] rs9439752 1 30114164 [T/G] rs271327 1 30115843 [A/G] JHU_1.30117155 1 30117156 [G/C] rs271383 1 30120287 [A/C] rs271380 1 30121478 [A/G] rs9442461 1 30121585 [G/C] JHU_1.30121660 1 30121661 [A/C] JHU_1.30121720 1 30121721 [A/C] rs1036782 1 30122157 [T/C] JHU_1.30126010 1 30126011 [T/C] rs35023403 1 30126566 [G/C] rs446335 1 30127106 [A/G] JHU_1.30127162 1 30127163 [T/C] exm2264814 1 30133502 [A/G] rs199613 1 30133502 [A/G] rs11589926 1 30134961 [T/C] rs2376719 1 30136427 [A/G] rs79864934 1 30137029 [T/C] rs9729822 1 30142473 [A/C] rs12122023 1 30143707 [A/G] rs77539560 1 30144747 [T/A] JHU_1.30151636 1 30151637 [T/C] rs12564818 1 30155341 [A/G] rs271344 1 30156975 [A/G] rs387232 1 30157559 [T/G] JHU_1.30157980 1 30157981 [A/G] JHU_1.30160377 1 30160378 [T/C] JHU_1.30162416 1 30162417 [A/G] JHU_1.30162476 1 30162477 [A/G] JHU_1.30162756 1 30162757 [C/G] rs78743481 1 30163116 [T/C] JHU_1.30163197 1 30163198 [A/G] rs75474661 1 30163486 [A/G] JHU_1.30164106 1 30164107 [T/C] JHU_1.30169058 1 30169059 [T/G] rs11808436 1 30169447 [T/G] rs12137141 1 30171995 [A/C] rs722497 1 30172044 [T/C] rs75147319 1 30172109 [C/G] rs1441837 1 30172441 [T/C] rs1441834 1 30173101 [T/C] JHU_1.30176102 1 30176103 [T/C] rs9659009 1 30178560 [T/C] rs11590417 1 30179068 [A/C] JHU_1.30179067 1 30179068 [A/C] JHU_1.30181504 1 30181505 [A/T] rs61740609 1 30181956 [A/G] rs147029651 1 30182170 [C/G] rs115504798 1 30182710 [T/C] rs894220 1 30183014 [A/G] rs4259710 1 30184426 [A/G] JHU_1.30185047 1 30185048 [T/G] rs12118066 1 30185467 [T/C] rs1866967 1 30185662 [A/G] rs4949268 1 30186956 [T/C] JHU_1.30189091 1 30189092 [T/C] rs7534377 1 30191202 [A/G] rs77846450 1 30192132 [T/G] JHU_1.30196848 1 30196849 [T/C] rs79317289 1 30197456 [C/G] JHU_1.30199669 1 30199670 [A/G] JHU_1.30200722 1 30200723 [A/G] rs16865963 1 30202932 [T/C] rs16832828 1 30203687 [T/C] 1:30204131-A-G 1 30204131 [A/G] rs12125419 1 30204943 [A/C] JHU_1.30205565 1 30205566 [T/C] JHU_1.30209385 1 30209386 [C/G] rs10914266 1 30211197 [A/G] rs10914271 1 30213840 [T/C] JHU_1.30214533 1 30214534 [T/C] rs995197 1 30215680 [T/C] rs17262734 1 30225125 [A/C] rs12566608 1 30225137 [T/C] rs16832876 1 30226168 [A/G] JHU_1.30227702 1 30227703 [C/G] rs28687715 1 30228901 [A/G] rs77946046 1 30230010 [A/G] rs141537776 1 30231723 [G/C] JHU_1.30232203 1 30232204 [A/C] rs12045312 1 30234753 [A/G] JHU_1.30237509 1 30237510 [A/G] rs6684453 1 30238984 [T/C] JHU_1.30239504 1 30239505 [T/C] JHU_1.30239770 1 30239771 [A/G] JHU_1.30240052 1 30240053 [A/G] rs12145142 1 30244847 [T/C] JHU_1.30245736 1 30245737 [A/C] rs77635076 1 30248431 [A/G] rs12067980 1 30250727 [T/C] rs74349395 1 30250960 [A/G] rs78310692 1 30251802 [A/G] JHU_1.30253599 1 30253600 [T/C] JHU_1.30254941 1 30254942 [T/C] rs10753253 1 30255396 [A/G] rs10798870 1 30255513 [G/C] rs114619902 1 30256975 [T/C] rs17262748 1 30257664 [T/C] rs10753256 1 30258787 [T/C] rs74356443 1 30258913 [A/G] rs6425840 1 30258944 [A/G] rs1868302 1 30259725 [T/C] rs77547535 1 30259901 [T/C] rs115605219 1 30260539 [T/C] rs2376727 1 30261280 [T/C] rs7532810 1 30262302 [T/C] rs57427880 1 30262663 [T/G] rs6691847 1 30265652 [T/C] rs117492669 1 30273422 [T/C] rs4949476 1 30277330 [T/G] rs2166886 1 30279812 [T/C] rs72656482 1 30280022 [T/C] JHU_1.30280090 1 30280091 [T/C] rs74846412 1 30282958 [T/C] JHU_1.30283366 1 30283367 [A/G] rs10914481 1 30283447 [A/G] JHU_1.30283504 1 30283505 [T/C] rs12030673 1 30284090 [A/G] rs6678054 1 30284674 [A/C] rs6664912 1 30284957 [T/C] rs4949485 1 30285848 [A/G] JHU_1.30286635 1 30286636 [A/G] JHU_1.30287521 1 30287522 [A/G] rs183950475 1 30291392 [T/C] rs4949487 1 30295869 [T/C] rs147010041 1 30296856 [A/G] rs117648382 1 30297739 [T/C] rs993245 1 30297793 [T/C] JHU_1.30298384 1 30298385 [A/G] JHU_1.30300071 1 30300072 [A/G] JHU_1.30306234 1 30306235 [T/C] rs6426048 1 30307903 [T/C] rs749663 1 30308744 [T/C] rs749665 1 30308981 [T/C] rs12045961 1 30310092 [A/G] rs78958632 1 30310265 [A/C] rs895786 1 30311124 [T/C] rs1448340 1 30311438 [T/C] rs12046763 1 30311769 [A/C] JHU_1.30312322 1 30312323 [A/C] JHU_1.30312341 1 30312342 [A/C] rs12043621 1 30313126 [A/G] JHU_1.30313988 1 30313989 [T/C] rs77692055 1 30317806 [A/G] JHU_1.30318889 1 30318890 [C/G] rs921197 1 30319889 [A/G] rs10914535 1 30320055 [T/G] rs7512834 1 30322046 [T/C] rs55870634 1 30323177 [T/C] rs4949502 1 30326342 [T/C] JHU_1.30326722 1 30326723 [A/G] rs188600891 1 30328146 [G/C] rs6425687 1 30328390 [A/G] rs10914549 1 30332121 [T/C] rs141826566 1 30332508 [T/C] rs1448339 1 30334824 [T/C] 1:30342388-G-A 1 30342388 [A/G] rs56992634 1 30342698 [T/G] JHU_1.30343715 1 30343716 [T/C] rs10914556 1 30344788 [T/C] JHU_1.30346085 1 30346086 [A/C] rs114284799 1 30348061 [A/G] rs1448337 1 30349276 [T/C] JHU_1.30350638 1 30350639 [C/G] JHU_1.30350761 1 30350762 [A/G] rs4949509 1 30351529 [T/C] rs78287185 1 30351688 [A/G] rs10458370 1 30353687 [A/G] rs114540343 1 30358546 [A/G] rs1001709 1 30359862 [A/G] rs11584587 1 30361661 [A/C] rs1597170 1 30361891 [T/C] rs12083826 1 30365605 [A/C] rs7540340 1 30365857 [A/C] rs16832711 1 30366644 [T/C] rs12138183 1 30366927 [A/G] rs895796 1 30368883 [T/C] rs752685 1 30369220 [A/G] rs10753261 1 30369659 [T/C] rs74068612 1 30370647 [A/G] rs12041889 1 30370836 [A/G] JHU_1.30370906 1 30370907 [T/C] rs61763497 1 30371134 [T/C] JHU_1.30371872 1 30371873 [A/G] rs4949230 1 30374868 [A/G] rs4949518 1 30379781 [A/G] rs72886705 1 30379800 [T/C] rs10914615 1 30381489 [A/G] rs2084436 1 30382007 [T/C] rs184569887 1 30382662 [T/C] JHU_1.30382945 1 30382946 [A/G] JHU_1.30383052 1 30383053 [C/G] rs1448343 1 30383408 [A/G] JHU_1.30386226 1 30386227 [A/G] rs72886718 1 30387155 [T/C] JHU_1.30387559 1 30387560 [T/C] rs12401689 1 30392970 [T/C] rs12063790 1 30394090 [T/C] JHU_1.30396397 1 30396398 [A/G] rs12068464 1 30398057 [A/T] rs10914633 1 30398349 [T/C] rs10798921 1 30399109 [A/G] rs198271 1 30399154 [T/C] rs12066363 1 30401662 [A/G] JHU_1.30401749 1 30401750 [T/C] JHU_1.30401764 1 30401765 [A/G] JHU_1.30405677 1 30405678 [A/G] JHU_1.30406249 1 30406250 [A/G] JHU_1.30406998 1 30406999 [T/C] JHU_1.30407177 1 30407178 [T/A] JHU_1.30407224 1 30407225 [A/G] JHU_1.30407675 1 30407676 [A/G] JHU_1.30408781 1 30408782 [A/C] rs144779174 1 30410255 [T/C] JHU_1.30410348 1 30410349 [T/C] rs4949233 1 30410570 [T/C] 1:30413502-T-C 1 30413502 [T/C] rs138472750 1 30413846 [T/C] rs16833076 1 30414182 [T/G] rs267701 1 30416242 [T/C] JHU_1.30416252 1 30416253 [A/G] rs10914662 1 30417143 [A/C] rs79222728 1 30417153 [T/C] rs10798928 1 30417560 [T/C] rs11583644 1 30419370 [A/G] rs78666072 1 30420310 [A/C] JHU_1.30420797 1 30420798 [T/A] JHU_1.30420872 1 30420873 [T/C] rs4949238 1 30422596 [A/G] rs55741612 1 30424009 [A/G] rs417372 1 30429311 [T/C] rs1009080 1 30431560 [A/G] exm-rs4949526 1 30432219 [T/C] JHU_1.30432823 1 30432824 [C/G] JHU_1.30433519 1 30433520 [A/G] JHU_1.30435912 1 30435913 [T/G] exm2264998 1 30437268 [A/G] rs61765720 1 30438370 [A/C] rs116318630 1 30438702 [A/G] rs10753284 1 30445050 [T/C] rs267708 1 30445631 [A/G] JHU_1.30447784 1 30447785 [T/C] JHU_1.30452588 1 30452589 [A/G] JHU_1.30453553 1 30453554 [A/G] rs4949241 1 30459797 [A/G] rs267680 1 30461938 [A/G] JHU_1.30463514 1 30463515 [A/T] rs56101609 1 30466930 [T/C] JHU_1.30472846 1 30472847 [A/C] rs409226 1 30472960 [A/G] rs74068059 1 30475730 [T/G] rs145270809 1 30475797 [A/G] rs401527 1 30476220 [A/G] rs905580 1 30478547 [A/G] JHU_1.30485391 1 30485392 [T/C] JHU_1.30487207 1 30487208 [A/G] NR_110790 LINC01648 EXON Silent JHU_1.30494485 1 30494486 [A/G] NR_110790 LINC01648 Silent rs1603724 1 30494591 [A/G] NR_110790 LINC01648 Silent rs267720 1 30497242 [T/G] NR_110790 LINC01648 Silent JHU_1.30507490 1 30507491 [A/G] NR_110790 LINC01648 Silent rs12732185 1 30509226 [A/G] NR_110790 LINC01648 Silent rs735826 1 30509302 [G/C] NR_110790 LINC01648 Silent rs7511843 1 30509439 [T/G] NR_110790 LINC01648 Silent JHU_1.30513172 1 30513173 [A/G] rs76696095 1 30519026 [T/C] rs437644 1 30521008 [T/C] JHU_1.30521201 1 30521202 [T/C] rs1391489 1 30522300 [T/C] rs1503772 1 30523923 [A/G] JHU_1.30525249 1 30525250 [A/C] JHU_1.30525381 1 30525382 [T/C] rs61434730 1 30526828 [T/C] rs372125 1 30528143 [T/C] rs12125183 1 30529226 [A/G] rs438226 1 30530417 [T/C] rs391479 1 30530885 [T/C] rs404169 1 30531572 [A/C] JHU_1.30531730 1 30531731 [A/G] JHU_1.30532292 1 30532293 [A/G] JHU_1.30532306 1 30532307 [A/G] JHU_1.30532341 1 30532342 [T/C] rs117898043 1 30533248 [A/G] rs12124550 1 30537895 [T/G] rs267660 1 30540710 [T/C] rs1149064 1 30543026 [A/G] rs267664 1 30544329 [C/G] rs267667 1 30546997 [A/G] rs267669 1 30548348 [T/C] JHU_1.30550748 1 30550749 [A/G] rs115968078 1 30550846 [A/G] JHU_1.30553993 1 30553994 [T/C] rs369715 1 30554684 [A/G] JHU_1.30558523 1 30558524 [A/G] rs113156839 1 30559888 [T/G] rs6661562 1 30562066 [A/G] rs7530417 1 30562263 [A/C] rs12131927 1 30562926 [C/G] JHU_1.30564112 1 30564113 [A/G] rs150094976 1 30565778 [T/C] rs16833246 1 30566926 [T/C] exm-rs910696 1 30567596 [A/G] 1:30572153-G-T 1 30572153 [T/G] rs1746272 1 30572812 [A/G] rs2076977 1 30574158 [T/C] JHU_1.30576428 1 30576429 [T/G] rs10915025 1 30578188 [A/G] rs74068174 1 30578542 [T/C] rs10915027 1 30578594 [A/G] rs2376907 1 30581567 [A/G] rs75035239 1 30582806 [A/G] rs57236318 1 30588349 [A/G] JHU_1.30588758 1 30588759 [T/C] rs184324428 1 30590397 [A/G] JHU_1.30590408 1 30590409 [T/C] rs12143885 1 30593355 [A/G] JHU_1.30595565 1 30595566 [T/C] rs7541381 1 30600504 [A/G] JHU_1.30600575 1 30600576 [T/C] rs10915032 1 30601155 [C/G] 1:30601160-T-G 1 30601160 [T/G] JHU_1.30601810 1 30601811 [T/G] rs16833316 1 30604682 [T/C] rs61759113 1 30605896 [C/G] JHU_1.30607611 1 30607612 [A/G] rs2376487 1 30610536 [T/G] rs7552599 1 30613672 [A/G] JHU_1.30620422 1 30620423 [A/G] rs2146850 1 30620480 [T/C] JHU_1.30621856 1 30621857 [A/C] JHU_1.30622211 1 30622212 [T/G] rs55964876 1 30624605 [A/G] rs7516391 1 30626710 [A/G] exm-rs2180233 1 30627712 [T/C] rs3934202 1 30635302 [A/G] rs10799083 1 30636313 [T/C] rs12142439 1 30636813 [A/G] JHU_1.30637379 1 30637380 [T/C] JHU_1.30639580 1 30639581 [A/G] JHU_1.30640842 1 30640843 [T/C] rs6425865 1 30641610 [A/G] rs6701005 1 30644096 [T/C] rs10493043 1 30645986 [T/C] JHU_1.30648176 1 30648177 [T/C] rs59237898 1 30649775 [A/G] rs72662863 1 30653102 [T/C] rs16833375 1 30654053 [A/G] rs4949549 1 30655669 [T/C] rs4949551 1 30657057 [T/C] rs78078630 1 30657873 [A/G] rs72662882 1 30659728 [T/G] rs7523165 1 30660403 [A/G] JHU_1.30660606 1 30660607 [T/C] rs4245643 1 30661242 [A/G] rs55965106 1 30661274 [T/G] rs10915040 1 30663554 [A/G] rs55920591 1 30666243 [A/G] rs78589846 1 30668113 [A/C] JHU_1.30669379 1 30669380 [T/C] JHU_1.30669977 1 30669978 [T/G] rs4381243 1 30675881 [A/G] rs112938023 1 30675953 [A/C] JHU_1.30683035 1 30683036 [A/G] rs7526431 1 30685029 [T/A] rs16833396 1 30687128 [A/C] rs7516871 1 30687376 [A/G] rs16833401 1 30687427 [T/C] rs116844133 1 30689851 [A/C] rs116706970 1 30690162 [T/C] rs55891315 1 30691532 [A/G] rs13375139 1 30691713 [T/C] 1:30693528-T-A 1 30693528 [A/T] JHU_1.30698266 1 30698267 [T/C] JHU_1.30698296 1 30698297 [T/C] JHU_1.30698446 1 30698447 [A/C] rs151049881 1 30698534 [A/G] rs6684063 1 30699340 [T/G] rs76639742 1 30701534 [A/G] rs909623 1 30706530 [A/G] rs77399906 1 30707080 [A/G] rs6685389 1 30709585 [A/G] rs6661218 1 30711813 [T/C] JHU_1.30713889 1 30713890 [A/G] rs183122537 1 30715005 [G/C] JHU_1.30717423 1 30717424 [T/C] rs12401958 1 30718102 [A/C] rs16833472 1 30719445 [A/G] rs6657022 1 30720817 [T/C] 1:30723508-A-G 1 30723508 [A/G] rs61768463 1 30727501 [A/G] JHU_1.30727861 1 30727862 [A/G] rs11802750 1 30729050 [A/G] rs190438264 1 30729772 [T/G] rs10158763 1 30731138 [A/G] rs1321114 1 30731876 [T/C] JHU_1.30731981 1 30731982 [A/C] JHU_1.30731996 1 30731997 [T/C] rs76795484 1 30734805 [T/G] rs10915057 1 30735345 [G/C] rs1008196 1 30737443 [A/G] rs1022489 1 30738387 [A/G] JHU_1.30738768 1 30738769 [A/G] rs12035857 1 30740493 [T/C] rs4083399 1 30741327 [A/G] JHU_1.30741655 1 30741656 [C/G] JHU_1.30741754 1 30741755 [A/G] rs74068867 1 30743002 [T/C] JHU_1.30744461 1 30744462 [A/T] JHU_1.30745209 1 30745210 [C/G] JHU_1.30745435 1 30745436 [C/G] JHU_1.30745729 1 30745730 [T/G] rs77072305 1 30746018 [T/C] rs116264131 1 30746195 [A/G] rs461020 1 30748819 [T/C] rs144364786 1 30748884 [T/C] rs461301 1 30749555 [A/G] rs78900653 1 30754665 [A/G] rs58245 1 30755532 [A/G] JHU_1.30755872 1 30755873 [A/G] JHU_1.30757633 1 30757634 [A/G] rs114405949 1 30758861 [A/C] rs455494 1 30758928 [A/G] rs463128 1 30759956 [T/C] rs143214613 1 30763892 [A/G] rs10915065 1 30766091 [A/G] rs74224303 1 30769984 [T/C] rs12407852 1 30772672 [T/C] rs390259 1 30775394 [A/G] JHU_1.30786349 1 30786350 [T/C] rs411238 1 30787227 [A/G] JHU_1.30787466 1 30787467 [T/G] rs6672668 1 30787475 [T/C] JHU_1.30790001 1 30790002 [A/G] 1:30790007-G-C 1 30790007 [C/G] rs10799096 1 30791516 [T/C] JHU_1.30792057 1 30792058 [T/C] JHU_1.30792180 1 30792181 [A/G] JHU_1.30793059 1 30793060 [A/G] JHU_1.30793262 1 30793263 [T/C] JHU_1.30793365 1 30793366 [A/G] JHU_1.30793405 1 30793406 [A/G] JHU_1.30793745 1 30793746 [A/G] rs80347167 1 30793746 [A/G] JHU_1.30793778 1 30793779 [A/G] exm2263819 1 30794960 [A/C] rs111698787 1 30795190 [A/G] rs10915080 1 30796573 [T/A] rs7549879 1 30798019 [T/C] rs2007451 1 30799299 [T/C] JHU_1.30802648 1 30802649 [T/G] JHU_1.30803161 1 30803162 [A/G] rs147484918 1 30803360 [T/C] rs116911312 1 30804131 [T/C] rs743664 1 30804823 [T/C] rs2003802 1 30805813 [A/G] rs411424 1 30806126 [A/G] rs59867706 1 30806318 [A/G] rs115572542 1 30807034 [A/C] rs10915081 1 30808141 [A/G] JHU_1.30808377 1 30808378 [C/G] rs760655 1 30809347 [T/C] rs74068706 1 30809647 [T/C] rs74068709 1 30815356 [T/C] JHU_1.30822570 1 30822571 [C/G] JHU_1.30825093 1 30825094 [A/G] rs762798 1 30827240 [T/C] rs116232101 1 30828984 [A/C] rs7552558 1 30830169 [A/G] rs147952183 1 30830378 [A/G] rs636797 1 30830505 [T/C] rs140876730 1 30833506 [T/G] JHU_1.30837819 1 30837820 [G/C] rs11809169 1 30844376 [T/G] rs928973 1 30846697 [T/C] JHU_1.30847025 1 30847026 [A/G] JHU_1.30848950 1 30848951 [T/C] rs675696 1 30850174 [T/C] JHU_1.30850422 1 30850423 [T/G] rs6696645 1 30850902 [A/C] JHU_1.30853515 1 30853516 [A/G] rs1887916 1 30858250 [A/C] JHU_1.30858461 1 30858462 [A/G] rs6425970 1 30858705 [A/C] rs4949262 1 30862461 [T/C] rs587527 1 30862620 [A/G] rs60802391 1 30862773 [A/G] 1:30863998-A-G 1 30863998 [A/G] JHU_1.30868961 1 30868962 [A/G] rs75947186 1 30869955 [A/C] JHU_1.30871153 1 30871154 [T/G] rs3867305 1 30873469 [T/G] rs10915107 1 30875515 [T/C] JHU_1.30875783 1 30875784 [T/G] rs6656841 1 30875987 [T/C] rs10915109 1 30878112 [T/G] rs6656216 1 30878285 [T/C] JHU_1.30878564 1 30878565 [A/G] 1:30405897_30405898ins 1 30878744 [I/D] JHU_1.30879577 1 30879578 [T/C] rs75495366 1 30882061 [C/G] JHU_1.30884966 1 30884967 [A/G] rs650676 1 30885210 [T/C] rs646198 1 30885525 [A/G] rs6676701 1 30887732 [A/G] rs588569 1 30887835 [A/G] rs12407007 1 30890532 [T/C] exm-rs12407007 1 30890532 [T/C] JHU_1.30891791 1 30891792 [A/G] rs35770649 1 30892222 [A/G] rs728338 1 30893256 [A/G] JHU_1.30893320 1 30893321 [A/C] rs74369761 1 30893525 [T/C] rs606404 1 30894160 [T/C] JHU_1.30895851 1 30895852 [A/T] rs6425993 1 30898743 [A/G] rs609878 1 30899960 [T/C] rs59054753 1 30900458 [T/G] rs689303 1 30910090 [T/C] JHU_1.30917904 1 30917905 [T/C] rs657816 1 30919030 [A/G] rs12117449 1 30919378 [T/C] JHU_1.30919398 1 30919399 [A/C] JHU_1.30919524 1 30919525 [T/C] rs1001704 1 30920818 [T/C] rs593280 1 30920875 [A/G] rs144315199 1 30922685 [T/C] JHU_1.30924618 1 30924619 [T/C] JHU_1.30925769 1 30925770 [T/C] rs6673363 1 30933736 [T/C] rs262623 1 30933984 [T/C] JHU_1.30934827 1 30934828 [T/G] rs146824962 1 30935678 [T/C] rs147341836 1 30937225 [A/G] rs115184549 1 30939449 [T/C] rs142571414 1 30940813 [A/G] rs77101383 1 30942106 [T/C] JHU_1.30943944 1 30943945 [A/C] rs1552319 1 30944362 [A/C] rs12130530 1 30945345 [T/C] rs11583352 1 30945486 [T/C] rs12406008 1 30945974 [A/G] rs262584 1 30946775 [A/C] JHU_1.30947515 1 30947516 [T/C] JHU_1.30950154 1 30950155 [T/C] JHU_1.30950808 1 30950809 [G/C] rs139452306 1 30953460 [A/G] rs77827889 1 30953964 [A/G] rs150392210 1 30956104 [C/G] rs262582 1 30957326 [A/G] rs16833773 1 30960556 [A/G] JHU_1.30961531 1 30961532 [A/G] JHU_1.30961945 1 30961946 [T/A] rs4949266 1 30962106 [T/C] rs415314 1 30962474 [T/C] JHU_1.30975246 1 30975247 [A/G] JHU_1.30977333 1 30977334 [T/C] JHU_1.30984496 1 30984497 [G/C] rs3104429 1 30985076 [T/C] rs262636 1 30986939 [G/C] rs3124329 1 30987334 [A/G] rs413626 1 30987883 [C/G] JHU_1.30988212 1 30988213 [T/G] JHU_1.30988688 1 30988689 [A/G] JHU_1.30989399 1 30989400 [T/G] rs11811161 1 30989434 [A/G] rs12144776 1 30989639 [A/G] JHU_1.30990816 1 30990817 [A/G] JHU_1.30991064 1 30991065 [A/G] rs396648 1 30993005 [T/C] rs423970 1 30993160 [A/G] rs56961400 1 30994614 [T/C] rs74224320 1 30997646 [G/C] JHU_1.30997788 1 30997789 [A/G] JHU_1.30997819 1 30997820 [T/C] JHU_1.30997928 1 30997929 [T/G] JHU_1.30997977 1 30997978 [T/C] JHU_1.30998148 1 30998149 [G/C] JHU_1.30998327 1 30998328 [A/G] JHU_1.30998499 1 30998500 [G/C] JHU_1.30999041 1 30999042 [T/C] rs142963427 1 30999764 [A/G] rs58445258 1 31001099 [T/C] rs12024336 1 31001718 [T/C] rs10915148 1 31002099 [A/C] JHU_1.31003624 1 31003625 [T/C] JHU_1.31004679 1 31004680 [A/G] rs10799112 1 31006714 [T/C] rs7515295 1 31008382 [A/C] JHU_1.31008429 1 31008430 [T/C] rs12071798 1 31008714 [T/C] rs1994239 1 31010302 [A/G] rs143188954 1 31010331 [T/C] rs10915150 1 31012257 [T/C] rs114136574 1 31013182 [T/C] rs9628644 1 31013426 [T/C] rs871635 1 31014340 [T/C] rs262610 1 31015349 [C/G] rs75368847 1 31015877 [A/G] rs78199811 1 31016037 [T/C] JHU_1.31016349 1 31016350 [T/C] rs76706775 1 31016948 [A/G] rs10915153 1 31017178 [A/G] rs262618 1 31018248 [T/C] JHU_1.31021942 1 31021943 [T/A] rs904257 1 31022237 [A/G] JHU_1.31024771 1 31024772 [A/G] rs2377368 1 31024967 [A/G] rs2377367 1 31027917 [T/C] JHU_1.31033850 1 31033851 [A/G] JHU_1.31042634 1 31042635 [A/G] JHU_1.31042642 1 31042643 [T/A] JHU_1.31043040 1 31043041 [A/G] rs3104435 1 31045509 [A/G] rs3124326 1 31047795 [T/C] JHU_1.31049306 1 31049307 [G/C] rs4445518 1 31049746 [T/G] rs520272 1 31058302 [T/A] rs525813 1 31058914 [T/C] rs610679 1 31061327 [A/G] rs530973 1 31062295 [T/C] rs1323849 1 31062580 [A/G] rs788871 1 31064203 [T/C] rs12121710 1 31066555 [T/C] rs4949277 1 31069194 [A/G] rs67408939 1 31070635 [T/C] rs595966 1 31070779 [A/C] JHU_1.31071208 1 31071209 [A/G] rs72874414 1 31074611 [T/G] JHU_1.31074666 1 31074667 [T/C] rs660659 1 31080076 [A/C] rs4949279 1 31080612 [T/C] rs544789 1 31083478 [A/G] rs666750 1 31086685 [T/G] rs10914158 1 31087850 [A/G] rs7518010 1 31088967 [T/C] rs114796833 1 31091723 [A/G] JHU_1.31091864 1 31091865 [A/G] rs58470003 1 31092318 [A/G] rs72652737 1 31093624 [T/C] rs11589302 1 31099501 [A/G] rs1188414 1 31099929 [T/C] JHU_1.31101035 1 31101036 [T/C] JHU_1.31101051 1 31101052 [A/G] rs1201394 1 31101134 [T/C] rs535653 1 31107431 [A/G] JHU_1.31109908 1 31109909 [A/C] rs77380793 1 31110508 [T/C] rs10914170 1 31116014 [T/C] JHU_1.31116285 1 31116286 [T/C] JHU_1.31117129 1 31117130 [T/A] JHU_1.31117157 1 31117158 [T/C] JHU_1.31118371 1 31118372 [T/C] JHU_1.31118728 1 31118729 [A/G] rs522294 1 31118741 [A/G] rs74224333 1 31119469 [A/G] JHU_1.31120255 1 31120256 [A/G] rs2647106 1 31120648 [A/G] rs76598030 1 31122379 [A/G] JHU_1.31125080 1 31125081 [T/G] rs1628852 1 31125281 [T/G] rs6666641 1 31125595 [A/G] rs60037194 1 31126557 [C/G] rs60762360 1 31127291 [T/C] JHU_1.31128036 1 31128037 [A/G] JHU_1.31128625 1 31128626 [A/G] JHU_1.31129230 1 31129231 [A/G] JHU_1.31134205 1 31134206 [T/G] rs9943126 1 31135670 [T/C] rs1983821 1 31139580 [T/C] rs76773680 1 31141779 [A/G] rs148813189 1 31146311 [T/C] rs2147081 1 31148956 [A/G] JHU_1.31149468 1 31149469 [A/G] JHU_1.31149814 1 31149815 [T/G] JHU_1.31151218 1 31151219 [A/G] rs2700541 1 31151319 [A/C] rs1408151 1 31151452 [T/C] rs1188390 1 31151500 [T/C] JHU_1.31159102 1 31159103 [A/G] rs7555192 1 31161483 [A/G] rs79867189 1 31163036 [A/G] rs1188446 1 31163456 [A/G] JHU_1.31163610 1 31163611 [T/G] rs144117641 1 31165198 [T/C] JHU_1.31165443 1 31165444 [A/T] JHU_1.31165702 1 31165703 [T/G] JHU_1.31165783 1 31165784 [A/G] rs716486 1 31167561 [A/G] rs1033867 1 31167998 [T/C] rs1072498 1 31168162 [A/G] rs1830705 1 31168219 [T/C] rs1188443 1 31168270 [T/C] 1:31169372-G-A 1 31169372 [A/G] rs140305862 1 31173348 [T/C] JHU_1.31175504 1 31175505 [T/C] JHU_1.31176157 1 31176158 [T/C] rs1149023 1 31176942 [T/G] rs1149024 1 31177073 [T/C] JHU_1.31178500 1 31178501 [C/G] rs12750278 1 31178663 [T/G] rs2889651 1 31181192 [T/C] JHU_1.31181211 1 31181212 [T/C] rs1149039 1 31182892 [A/G] rs7555715 1 31183812 [A/C] JHU_1.31183895 1 31183896 [T/G] rs1188395 1 31184368 [A/G] NM_002379 MATN1 EXON Silent JHU_1.31184746 1 31184747 [T/C] NM_002379 MATN1 EXON Silent exm38621 1 31187165 [A/G] NM_002379 MATN1 EXON Missense_P457L JHU_1.31187861 1 31187862 [A/G] NM_002379 MATN1 Silent variant.2112 1 31187999 [T/C] NM_002379 MATN1 Silent exm38622 1 31188019 [T/G] NM_002379 MATN1 EXON Missense_K449Q exm1791661 1 31188861 [T/C] NM_002379 MATN1 EXON Missense_V368M 1:31189044-CT 1 31189044 [T/C] NM_002379 MATN1 EXON Missense_V307M chr1_31189065 1 31189065 [T/G] NM_002379 MATN1 EXON Missense_Q300K rs116244983 1 31189194 [T/C] NM_002379 MATN1 Silent JHU_1.31189193 1 31189194 [T/C] NM_002379 MATN1 Silent exm2251338 1 31189689 [A/G] NM_002379 MATN1 EXON Synonymous_T246T exm2251339 1 31189701 [A/G] NM_002379 MATN1 EXON Synonymous_P242P JHU_1.31190488 1 31190489 [T/G] NM_002379 MATN1 Silent 1:31191638-AG 1 31191638 [A/G] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_V203A,Silent JHU_1.31192196 1 31192197 [C/G] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Silent,Silent exm38669 1 31194290 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_A135T,Silent 1:31194365-GA 1 31194365 [A/G] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_R110C,Silent exm38681 1 31194457 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_R79Q,Silent exm38686 1 31194516 [T/G] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_K59N,Silent exm38690 1 31194539 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_V52I,Silent exm38691 1 31194544 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_R50H,Silent 1:31194581-GA 1 31194581 [A/G] NM_002379,NR_034182 MATN1,MATN1-AS1 EXON Missense_R38W,Silent rs143426993 1 31195572 [T/C] NM_002379,NR_034182 MATN1,MATN1-AS1 Silent,Silent rs1149048 1 31198733 [A/G] NR_034182 MATN1-AS1 EXON Silent rs4949289 1 31201340 [A/G] rs1149054 1 31201956 [T/G] rs144622689 1 31202566 [A/T] JHU_1.31203427 1 31203428 [T/C] 1:31206700-GA 1 31206700 [A/G] NM_006762 LAPTM5 EXON Missense_A255V exm38710 1 31206719 [T/C] NM_006762 LAPTM5 EXON Missense_T249A rs145384305 1 31206746 [T/C] NM_006762 LAPTM5 EXON Missense_E240K exm38712 1 31206754 [A/G] NM_006762 LAPTM5 EXON Missense_P237L rs3795437 1 31206806 [T/C] NM_006762 LAPTM5 Silent rs12404920 1 31206957 [T/C] NM_006762 LAPTM5 Silent rs1535637 1 31207902 [T/C] NM_006762 LAPTM5 Silent exm38714 1 31208042 [T/C] NM_006762 LAPTM5 EXON Missense_R226K rs10914190 1 31209796 [T/C] NM_006762 LAPTM5 Silent rs1188357 1 31211282 [T/G] NM_006762 LAPTM5 Silent 1:31211884-GA 1 31211884 [A/G] NM_006762 LAPTM5 EXON Missense_T138M exm38727 1 31211894 [A/G] NM_006762 LAPTM5 EXON Missense_P135S exm38728 1 31212666 [T/C] NM_006762 LAPTM5 EXON Missense_R126Q exm38732 1 31212687 [A/G] NM_006762 LAPTM5 EXON Missense_A119V rs145636949 1 31212687 [A/G] NM_006762 LAPTM5 EXON Missense_A119V rs149909342 1 31214388 [A/G] NM_006762 LAPTM5 Silent JHU_1.31214970 1 31214971 [T/C] NM_006762 LAPTM5 Silent JHU_1.31221917 1 31221918 [A/G] NM_006762 LAPTM5 Silent JHU_1.31221990 1 31221991 [A/T] NM_006762 LAPTM5 Silent JHU_1.31222169 1 31222170 [T/G] NM_006762 LAPTM5 Silent JHU_1.31222316 1 31222317 [T/C] NM_006762 LAPTM5 Silent JHU_1.31222490 1 31222491 [A/C] NM_006762 LAPTM5 Silent JHU_1.31222521 1 31222522 [A/G] NM_006762 LAPTM5 Silent JHU_1.31222528 1 31222529 [A/C] NM_006762 LAPTM5 Silent JHU_1.31222628 1 31222629 [T/C] NM_006762 LAPTM5 Silent JHU_1.31222856 1 31222857 [A/G] NM_006762 LAPTM5 Silent JHU_1.31223350 1 31223351 [A/T] NM_006762 LAPTM5 Silent JHU_1.31223656 1 31223657 [A/G] NM_006762 LAPTM5 Silent JHU_1.31224071 1 31224072 [A/G] NM_006762 LAPTM5 Silent rs77970901 1 31225271 [A/C] NM_006762 LAPTM5 Silent JHU_1.31226258 1 31226259 [A/G] NM_006762 LAPTM5 Silent rs1188347 1 31226340 [T/C] NM_006762 LAPTM5 Silent rs1407883 1 31230126 [T/C] NM_006762 LAPTM5 Silent exm38753 1 31230532 [T/C] NM_006762 LAPTM5 EXON Missense_T21A 1:31230567-CT 1 31230567 [T/C] NM_006762 LAPTM5 EXON Missense_R9H 1:31230583-GA 1 31230583 [A/G] NM_006762 LAPTM5 EXON Missense_R4C seq-rs143486131 1 31230583 [A/G] NM_006762 LAPTM5 EXON Missense_R4C JHU_1.31231253 1 31231254 [T/G] rs3762297 1 31231680 [T/C] JHU_1.31232358 1 31232359 [T/C] JHU_1.31235834 1 31235835 [A/G] rs4949294 1 31235936 [T/G] rs72878313 1 31236665 [A/G] rs12124742 1 31239262 [T/C] rs12736883 1 31241312 [A/G] JHU_1.31242150 1 31242151 [A/G] rs6661968 1 31246026 [C/G] JHU_1.31254974 1 31254975 [T/G] JHU_1.31256140 1 31256141 [T/C] rs11802256 1 31258259 [T/C] JHU_1.31259505 1 31259506 [A/G] rs61584130 1 31260293 [T/C] rs4949301 1 31260468 [T/C] JHU_1.31261267 1 31261268 [T/C] rs12738259 1 31262499 [A/G] rs114143732 1 31262823 [A/G] rs2889674 1 31264468 [A/G] rs10914206 1 31264978 [T/C] rs11578558 1 31267335 [A/C] rs10798809 1 31272279 [A/G] rs6425686 1 31278481 [T/G] rs912215 1 31283364 [A/G] rs117837765 1 31283404 [A/G] rs11804656 1 31284348 [T/C] rs12038524 1 31286796 [A/G] rs115886446 1 31288190 [A/G] rs16865763 1 31290147 [A/G] JHU_1.31290249 1 31290250 [A/G] JHU_1.31290724 1 31290725 [G/C] JHU_1.31291475 1 31291476 [A/G] rs10914214 1 31292608 [A/G] rs182924383 1 31293653 [A/G] rs4949309 1 31296585 [T/G] rs746700 1 31297519 [T/C] NR_146732 LINC01778 EXON Silent rs10798813 1 31298844 [T/C] NR_146732 LINC01778 Silent JHU_1.31308377 1 31308378 [T/A] rs3923872 1 31309717 [A/G] rs74944937 1 31311880 [C/G] rs12756105 1 31313417 [A/G] rs72880016 1 31314225 [A/G] rs10914219 1 31314549 [T/C] rs10914220 1 31315191 [A/G] rs4949316 1 31315593 [C/G] JHU_1.31316212 1 31316213 [T/A] JHU_1.31316961 1 31316962 [C/G] JHU_1.31317101 1 31317102 [A/G] rs66688046 1 31317660 [T/C] JHU_1.31317659 1 31317660 [T/C] JHU_1.31317691 1 31317692 [T/C] rs138422339 1 31317968 [A/G] rs77038422 1 31318030 [T/C] rs7516534 1 31318133 [T/C] JHU_1.31318158 1 31318159 [A/G] JHU_1.31318921 1 31318922 [T/C] rs61767324 1 31320174 [T/C] rs2488230 1 31320651 [A/G] rs2506964 1 31323548 [A/G] rs2506967 1 31324881 [T/C] rs947646 1 31325027 [G/C] rs2796210 1 31326201 [A/G] rs111619286 1 31329106 [T/C] rs2488233 1 31330181 [T/C] rs3935266 1 31330844 [A/G] rs34855306 1 31331137 [A/G] JHU_1.31333900 1 31333901 [A/G] rs2488226 1 31334415 [A/C] rs12408228 1 31337417 [A/C] rs114438612 1 31338312 [A/G] JHU_1.31339142 1 31339143 [T/G] rs4949320 1 31339570 [T/C] JHU_1.31339614 1 31339615 [A/C] JHU_1.31340435 1 31340436 [T/G] rs2488238 1 31344952 [T/C] NM_014654 SDC3 EXON Silent rs117399193 1 31345731 [A/G] NM_014654 SDC3 EXON Silent JHU_1.31345891 1 31345892 [A/G] NM_014654 SDC3 EXON Silent rs138480380 1 31346102 [T/C] NM_014654 SDC3 EXON Missense_V429I exm38763 1 31346102 [T/C] NM_014654 SDC3 EXON Missense_V429I exm38772 1 31346198 [T/C] NM_014654 SDC3 EXON Missense_A397T rs1539360 1 31346199 [A/G] NM_014654 SDC3 EXON Synonymous_G396G 1:31347242-CT 1 31347242 [T/C] NM_014654 SDC3 EXON Missense_R355H exm38781 1 31347320 [A/G] NM_014654 SDC3 EXON Missense_T329I exm38782 1 31347338 [T/G] NM_014654 SDC3 EXON Missense_E323A rs141616997 1 31347375 [G/C] NM_014654 SDC3 EXON Missense_G311R exm38792 1 31347399 [T/C] NM_014654 SDC3 EXON Missense_D303N rs138909701 1 31349425 [T/C] NM_014654 SDC3 EXON Missense_A282T 1:31349425-CT 1 31349425 [T/C] NM_014654 SDC3 EXON Missense_A282T rs182437869 1 31349445 [T/G] NM_014654 SDC3 EXON Missense_T275N 1:31349484-GA 1 31349484 [A/G] NM_014654 SDC3 EXON Missense_P262L exm1791707 1 31349557 [C/G] NM_014654 SDC3 EXON Missense_V238L exm38813 1 31349647 [T/C] NM_014654 SDC3 EXON Missense_V208I JHU_1.31349646 1 31349647 [T/C] NM_014654 SDC3 EXON Missense_V208I 1:31349677-CT 1 31349677 [T/C] NM_014654 SDC3 EXON Missense_A198T 1:31349718-GA 1 31349718 [A/G] NM_014654 SDC3 EXON Missense_A184V exm38824 1 31349736 [A/G] NM_014654 SDC3 EXON Missense_T178I 1:31349794-CT 1 31349794 [T/C] NM_014654 SDC3 EXON Missense_V159I 1:31349823-GA 1 31349823 [A/G] NM_014654 SDC3 EXON Missense_P149L exm38829 1 31349871 [T/C] NM_014654 SDC3 EXON Missense_R133H exm38836 1 31349977 [A/G] NM_014654 SDC3 EXON Missense_R98C exm38837 1 31349983 [T/C] NM_014654 SDC3 EXON Missense_A96T rs2491133 1 31350566 [T/C] NM_014654 SDC3 Silent JHU_1.31351235 1 31351236 [A/G] NM_014654 SDC3 Silent rs79970377 1 31353241 [A/G] NM_014654 SDC3 Silent JHU_1.31353290 1 31353291 [T/C] NM_014654 SDC3 Silent rs12406720 1 31353409 [T/C] NM_014654 SDC3 Silent rs16834123 1 31354164 [A/G] NM_014654 SDC3 Silent JHU_1.31354716 1 31354717 [G/C] NM_014654 SDC3 Silent rs34692820 1 31355307 [T/C] NM_014654 SDC3 Silent rs72882078 1 31357766 [A/C] NM_014654 SDC3 Silent JHU_1.31360941 1 31360942 [A/G] NM_014654 SDC3 Silent rs10753239 1 31362224 [T/C] NM_014654 SDC3 Silent JHU_1.31363144 1 31363145 [A/C] NM_014654 SDC3 Silent JHU_1.31364375 1 31364376 [T/C] NM_014654 SDC3 Silent JHU_1.31366221 1 31366222 [T/C] NM_014654 SDC3 Silent JHU_1.31366763 1 31366764 [T/C] NM_014654 SDC3 Silent rs60758960 1 31366764 [T/C] NM_014654 SDC3 Silent rs187960985 1 31366884 [A/G] NM_014654 SDC3 Silent JHU_1.31367261 1 31367262 [T/G] NM_014654 SDC3 Silent rs59507002 1 31367262 [T/G] NM_014654 SDC3 Silent rs35395844 1 31367744 [A/G] NM_014654 SDC3 Silent rs35517056 1 31367749 [A/G] NM_014654 SDC3 Silent JHU_1.31367979 1 31367980 [C/G] NM_014654 SDC3 Silent JHU_1.31368620 1 31368621 [A/C] NM_014654 SDC3 Silent JHU_1.31370570 1 31370571 [C/G] NM_014654 SDC3 Silent rs72882096 1 31370847 [A/G] NM_014654 SDC3 Silent JHU_1.31370846 1 31370847 [A/G] NM_014654 SDC3 Silent JHU_1.31370921 1 31370922 [A/C] NM_014654 SDC3 Silent rs12085929 1 31372734 [T/C] NM_014654 SDC3 Silent JHU_1.31376030 1 31376031 [T/G] NM_014654 SDC3 Silent JHU_1.31376587 1 31376588 [C/G] NM_014654 SDC3 Silent rs75321771 1 31380129 [C/G] NM_014654 SDC3 Silent rs4303117 1 31380174 [A/C] NM_014654 SDC3 Silent rs184742917 1 31383853 [T/C] rs115281358 1 31384077 [T/C] JHU_1.31384971 1 31384972 [T/C] JHU_1.31385250 1 31385251 [C/G] JHU_1.31388659 1 31388660 [A/G] rs143748396 1 31390907 [A/G] rs60398448 1 31391860 [A/G] rs147576410 1 31393918 [A/G] rs75448884 1 31394177 [T/G] rs35851326 1 31395172 [T/C] JHU_1.31398519 1 31398520 [T/G] rs74673549 1 31401150 [T/C] JHU_1.31407313 1 31407314 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs7514514 1 31408056 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs3795433 1 31413972 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent 1:31414065-CT 1 31414065 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_D1057N,Missense_D1059N newrs183040257 1 31414838 [A/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31415039 1 31415040 [T/A] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent exm38893 1 31422976 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Silent,Missense_I952V 1:31423057-CT 1 31423057 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_V925I,Missense_V925I JHU_1.31424505 1 31424506 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs6672383 1 31424889 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent 1:31425154-TC 1 31425154 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_N883S,Missense_N883S rs2275741 1 31426815 [A/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Synonymous_N779N,Synonymous_N779N rs9661612 1 31428852 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs6696300 1 31429785 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31432922 1 31432923 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs76691366 1 31435772 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent 1:31437719-GAGTCACGGC-G 1 31437719 [I/D] NM_014676,NM_001020658 PUM1,PUM1 EXON 1:31437731-GA-G 1 31437731 [I/D] NM_014676,NM_001020658 PUM1,PUM1 EXON 1:31438906-TC 1 31438906 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_N670S,Missense_N670S exm38929 1 31439065 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_N617S,Missense_N617S exm2251340 1 31441316 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Synonymous_Q510Q,Synonymous_Q510Q JHU_1.31447077 1 31447078 [A/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31448206 1 31448207 [T/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs147513848 1 31451333 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs41307900 1 31452788 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs79465455 1 31453879 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent exm1791740 1 31454160 [A/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Synonymous_I417I,Synonymous_I417I exm38958 1 31454183 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_A410T,Missense_A410T JHU_1.31454425 1 31454426 [C/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs117300729 1 31454495 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs79794693 1 31460633 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs947643 1 31461438 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31464854 1 31464855 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent exm38964 1 31465377 [T/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_M340L,Missense_M340L exm38966 1 31465505 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_R297H,Missense_R297H exm38971 1 31468066 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_G241D,Missense_G241D JHU_1.31470352 1 31470353 [T/A] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs79099204 1 31471612 [A/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31476829 1 31476830 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent 1:31479930-TC 1 31479930 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_K151R,Missense_K151R variant.2119 1 31479951 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent 1:31494916-T-C 1 31494916 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31494935 1 31494936 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31496301 1 31496302 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31498697 1 31498698 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs74063618 1 31499793 [A/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31499792 1 31499793 [A/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31500438 1 31500439 [A/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs1015099 1 31500659 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31504060 1 31504061 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs6656007 1 31504963 [T/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs78483362 1 31505231 [T/A] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs149974533 1 31513920 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent rs141907328 1 31516905 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31519335 1 31519336 [T/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent JHU_1.31529106 1 31529107 [T/C] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent exm38985 1 31532110 [T/C] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_G102S,Missense_G102S exm38986 1 31532151 [T/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_Q88P,Missense_Q88P exm38990 1 31532277 [A/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_A46V,Missense_A46V chr1_31532338 1 31532338 [A/G] NM_014676,NM_001020658 PUM1,PUM1 EXON Missense_P26S,Missense_P26S JHU_1.31536868 1 31536869 [A/G] NM_014676,NM_001020658 PUM1,PUM1 Silent,Silent 1:31538631-AG 1 31538631 [A/G] rs114551033 1 31546044 [A/G] rs145336933 1 31546609 [A/G] JHU_1.31553473 1 31553474 [T/C] rs142091699 1 31558809 [T/C] rs6673049 1 31564030 [A/G] JHU_1.31567587 1 31567588 [T/C] rs146517729 1 31571259 [A/G] rs72887586 1 31571560 [G/C] rs185060791 1 31577104 [A/G] rs10914270 1 31580671 [T/C] rs76207656 1 31583925 [A/G] JHU_1.31591070 1 31591071 [T/C] rs28540065 1 31591493 [T/C] rs28530797 1 31591687 [A/C] JHU_1.31597009 1 31597010 [T/C] rs78133995 1 31600224 [A/G] JHU_1.31601861 1 31601862 [T/C] rs6425712 1 31606417 [A/G] rs151268847 1 31606444 [A/G] rs2185419 1 31606783 [A/C] rs6689678 1 31618766 [T/C] JHU_1.31625388 1 31625389 [T/C] rs116392752 1 31628551 [A/G] JHU_1.31635935 1 31635936 [T/G] rs7525805 1 31639120 [A/G] JHU_1.31639424 1 31639425 [T/C] rs139015398 1 31652843 [T/G] NM_024522 NKAIN1 EXON Silent exm39004 1 31655422 [A/T] NM_024522 NKAIN1 EXON Missense_F163I rs77979698 1 31655558 [G/C] NM_024522 NKAIN1 Silent JHU_1.31655703 1 31655704 [A/G] NM_024522 NKAIN1 Silent exm39007 1 31656764 [C/G] NM_024522 NKAIN1 EXON Missense_R124P exm39012 1 31656857 [T/C] NM_024522 NKAIN1 EXON Missense_R93Q exm39014 1 31658150 [T/C] NM_024522 NKAIN1 EXON Missense_V73I rs75376972 1 31659635 [A/G] NM_024522 NKAIN1 Silent 1:31660910-CT 1 31660910 [T/C] NM_024522 NKAIN1 EXON Missense_R60Q exm39019 1 31660926 [T/C] NM_024522 NKAIN1 EXON Missense_V55M rs10798826 1 31669803 [T/C] NM_024522 NKAIN1 Silent rs72891326 1 31671386 [T/C] NM_024522 NKAIN1 Silent JHU_1.31671434 1 31671435 [A/G] NM_024522 NKAIN1 Silent JHU_1.31672831 1 31672832 [T/C] NM_024522 NKAIN1 Silent rs2377717 1 31673263 [T/C] NM_024522 NKAIN1 Silent JHU_1.31673306 1 31673307 [T/C] NM_024522 NKAIN1 Silent JHU_1.31676206 1 31676207 [T/C] NM_024522 NKAIN1 Silent rs16834237 1 31680313 [T/C] NM_024522 NKAIN1 Silent rs7549197 1 31681014 [T/C] NM_024522 NKAIN1 Silent rs78511939 1 31681074 [T/G] NM_024522 NKAIN1 Silent rs76683037 1 31681266 [A/G] NM_024522 NKAIN1 Silent JHU_1.31681482 1 31681483 [A/G] NM_024522 NKAIN1 Silent JHU_1.31681487 1 31681488 [T/G] NM_024522 NKAIN1 Silent exm2263858 1 31681614 [A/C] NM_024522 NKAIN1 Silent rs10798827 1 31682312 [T/G] NM_024522 NKAIN1 Silent rs10753244 1 31683500 [A/G] NM_024522 NKAIN1 Silent JHU_1.31685252 1 31685253 [T/C] NM_024522 NKAIN1 Silent rs139321797 1 31686047 [C/G] NM_024522 NKAIN1 Silent rs75039490 1 31686385 [A/G] NM_024522 NKAIN1 Silent rs6680565 1 31687958 [A/G] NM_024522 NKAIN1 Silent rs12755429 1 31692035 [T/C] NM_024522 NKAIN1 Silent JHU_1.31693807 1 31693808 [T/C] NM_024522 NKAIN1 Silent JHU_1.31695455 1 31695456 [G/C] NM_024522 NKAIN1 Silent JHU_1.31695947 1 31695948 [T/G] NM_024522 NKAIN1 Silent JHU_1.31698472 1 31698473 [T/C] NM_024522 NKAIN1 Silent rs10914332 1 31699002 [A/G] NM_024522 NKAIN1 Silent rs12087046 1 31700412 [A/G] NM_024522 NKAIN1 Silent rs1107427 1 31701981 [A/G] NM_024522 NKAIN1 Silent rs74349218 1 31706875 [T/G] NM_024522 NKAIN1 Silent rs150812930 1 31707637 [A/G] NM_024522 NKAIN1 Silent rs6701667 1 31707971 [A/C] NM_024522 NKAIN1 Silent JHU_1.31708566 1 31708567 [A/G] NM_024522 NKAIN1 Silent JHU_1.31710735 1 31710736 [A/C] NM_024522 NKAIN1 Silent rs74065806 1 31711930 [A/G] NM_024522 NKAIN1 Silent rs142138568 1 31711935 [A/G] NM_024522 NKAIN1 Silent rs16834279 1 31716515 [T/C] rs114583929 1 31721327 [G/C] rs147428094 1 31721506 [T/C] rs6658964 1 31722059 [T/G] rs7515867 1 31724744 [T/C] JHU_1.31732389 1 31732390 [A/G] JHU_1.31735393 1 31735394 [A/G] NM_004814 SNRNP40 Silent rs117573344 1 31737693 [A/G] NM_004814 SNRNP40 Silent rs138271846 1 31740661 [A/G] NM_004814 SNRNP40 Silent rs10493047 1 31741777 [T/C] NM_004814 SNRNP40 Silent variant.2123 1 31742000 [T/C] NM_004814 SNRNP40 Silent rs6425730 1 31747393 [T/C] NM_004814 SNRNP40 Silent JHU_1.31751906 1 31751907 [A/C] NM_004814 SNRNP40 Silent exm39044 1 31754270 [T/C] NM_004814 SNRNP40 EXON Missense_N202S JHU_1.31755329 1 31755330 [G/C] NM_004814 SNRNP40 Silent JHU_1.31759276 1 31759277 [A/G] NM_004814 SNRNP40 Silent 1:31764838-TC 1 31764838 [T/C] NM_004814 SNRNP40 EXON Missense_Y96C variant.2124 1 31766066 [A/G] NM_004814 SNRNP40 EXON Synonymous_L91L 1:31766157-CA 1 31766157 [A/C] NM_004814 SNRNP40 EXON Missense_M60I exm39061 1 31769528 [A/C] NM_004814 SNRNP40 EXON Missense_L24W rs116276694 1 31769747 [T/C] JHU_1.31769751 1 31769752 [T/G] rs6679393 1 31770944 [T/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs6679393 1 31770944 [T/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10914347 1 31773496 [T/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs80087083 1 31774143 [T/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9970421 1 31779459 [C/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.31780764 1 31780765 [T/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7523438 1 31788313 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.31789725 1 31789726 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm39079 1 31791962 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Missense_M1V,Missense_M25V,Missense_M47V,Missense_M25V,Missense_M17V,Silent,Missense_M25V,Missense_M1V,Missense_M25V,Missense_M17V JHU_1.31792545 1 31792546 [T/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.31796984 1 31796985 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs756233 1 31799776 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115552871 1 31802942 [T/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1791800 1 31810055 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Missense_R29Q,Missense_R53Q,Missense_R75Q,Missense_R53Q,Missense_R45Q,Silent,Missense_R53Q,Missense_R29Q,Missense_R53Q,Missense_R45Q variant.2126 1 31811895 [A/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Missense_E82A,Missense_E106A,Missense_E128A,Missense_E106A,Missense_E98A,Missense_E44A,Missense_E106A,Missense_E82A,Missense_E106A,Missense_E98A variant.2127 1 31811900 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2264816 1 31819128 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3765153 1 31819445 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:31819591-GA 1 31819591 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Missense_R117K,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:31819648-AG 1 31819648 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Missense_K136R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:31821768-GA 1 31821768 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Missense_A173T,Missense_A171T,Missense_A193T,Silent,Silent,Missense_A109T,Silent,Missense_A147T,Missense_A171T,Missense_A163T rs144774588 1 31821978 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10798845 1 31822636 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.31822899 1 31822900 [T/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.31825839 1 31825840 [T/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77492457 1 31830966 [A/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:31836991-CT 1 31836991 [T/C] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Missense_A228V,Missense_A226V,Missense_A248V,Silent,Nonsense_Q136X,Missense_A164V,Nonsense_Q144X,Missense_A202V,Missense_A226V,Missense_A218V rs41272141 1 31837516 [C/G] NM_001282567,NM_001282568,NM_001282566,NM_001282574,NM_001282573,NM_001282571,NM_001282572,NM_001282570,NM_016505,NM_001282569 ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17,ZCCHC17 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.2130 1 31838741 [I/D] NM_004102,NM_001320996 FABP3,FABP3 EXON exm39109 1 31838767 [A/G] NM_004102,NM_001320996 FABP3,FABP3 EXON Missense_A123V,Missense_A134V JHU_1.31838908 1 31838909 [A/G] NM_004102,NM_001320996 FABP3,FABP3 Silent,Silent exm39115 1 31842320 [T/C] NM_004102,NM_001320996 FABP3,FABP3 EXON Missense_K53R,Missense_K64R 1:31842675-A-C 1 31842675 [A/C] NM_004102,NM_001320996 FABP3,FABP3 Silent,Silent JHU_1.31844440 1 31844441 [T/C] NM_004102,NM_001320996 FABP3,FABP3 Silent,Silent exm2233157 1 31845854 [T/C] NM_004102,NM_001320996 FABP3,FABP3 EXON Missense_D3G,Missense_D3G rs10914367 1 31846206 [A/G] JHU_1.31851399 1 31851400 [A/G] rs12562824 1 31854882 [A/G] JHU_1.31858038 1 31858039 [T/C] rs190692211 1 31858257 [A/G] rs12122184 1 31858784 [T/C] rs12131153 1 31867655 [T/C] JHU_1.31867804 1 31867805 [T/C] rs6659255 1 31869669 [T/C] rs74494856 1 31871248 [T/C] rs2889753 1 31871407 [A/G] rs149752154 1 31872777 [T/G] rs77767282 1 31879736 [T/G] 1:31882687-GT 1 31882687 [T/G] NM_001199038 SERINC2 EXON Missense_M1I rs114060678 1 31883174 [A/G] NM_001199038,NM_001199037 SERINC2,SERINC2 EXON Silent,Silent chr1_31883256 1 31883256 [A/G] NM_001199038,NM_001199037 SERINC2,SERINC2 EXON Missense_E14K,Missense_E9K exm39122 1 31883259 [A/G] NM_001199038,NM_001199037 SERINC2,SERINC2 EXON Missense_E15K,Missense_E10K rs34278290 1 31883789 [A/G] NM_001199038,NM_001199037 SERINC2,SERINC2 Silent,Silent rs4478858 1 31883925 [T/C] NM_001199038,NM_001199037 SERINC2,SERINC2 Silent,Silent JHU_1.31892860 1 31892861 [A/T] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 Silent,Silent,Silent,Silent,Silent 1:31896597-CT 1 31896597 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R42C,Missense_R37C,Missense_R33C,Missense_R37C,Silent exm39132 1 31896645 [T/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G58W,Missense_G53W,Missense_G49W,Missense_G53W,Silent exm39133 1 31896649 [T/A] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_V59E,Missense_V54E,Missense_V50E,Missense_V54E,Silent exm39138 1 31897546 [A/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_E82A,Missense_E77A,Missense_E73A,Missense_E77A,Missense_E18A exm2251342 1 31897556 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Synonymous_A85A,Synonymous_A80A,Synonymous_A76A,Synonymous_A80A,Synonymous_A21A exm39141 1 31897557 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G86R,Missense_G81R,Missense_G77R,Missense_G81R,Missense_G22R 1:31897581-CT 1 31897581 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_H94Y,Missense_H89Y,Missense_H85Y,Missense_H89Y,Missense_H30Y exm39148 1 31897639 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_T113M,Missense_T108M,Missense_T104M,Missense_T108M,Missense_T49M 1:31897646-CCTT-C 1 31897646 [I/D] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON exm39154 1 31897692 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R131W,Missense_R126W,Missense_R122W,Missense_R126W,Missense_R67W exm39169 1 31898640 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_V173I,Missense_V168I,Missense_V164I,Missense_V168I,Missense_V109I exm39174 1 31898712 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R197W,Missense_R192W,Missense_R188W,Missense_R192W,Missense_R133W exm39181 1 31898757 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_A212T,Missense_A207T,Missense_A203T,Missense_A207T,Missense_A148T exm1791834 1 31899521 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_L220F,Missense_L215F,Missense_L211F,Missense_L215F,Missense_L156F 1:31899648-CT 1 31899648 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_A262V,Missense_A257V,Missense_A253V,Missense_A257V,Missense_A198V 1:31902208-TC 1 31902208 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 Silent,Silent,Silent,Silent,Silent Variant12356 1 31902257 [D/I] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON exm39197 1 31902279 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G312S,Missense_G307S,Missense_G303S,Missense_G307S,Missense_G248S exm39205 1 31902357 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_I338V,Missense_I333V,Missense_I329V,Missense_I333V,Missense_I274V 1:31902418-AG 1 31902418 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 Silent,Silent,Silent,Silent,Silent 1:31431949_31431950ins 1 31904796 [D/I] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 1:31432129_31432130ins 1 31904976 [D/I] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 rs12751487 1 31905173 [T/A] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 Silent,Silent,Silent,Silent,Silent exm39210 1 31905818 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R349C,Missense_R344C,Missense_R340C,Missense_R344C,Missense_R285C exm39211 1 31905819 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R349H,Missense_R344H,Missense_R340H,Missense_R344H,Missense_R285H 1:31905833-CT 1 31905833 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R354W,Missense_R349W,Missense_R345W,Missense_R349W,Missense_R290W exm39214 1 31905860 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_E363K,Missense_E358K,Missense_E354K,Missense_E358K,Missense_E299K exm39219 1 31905924 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R384Q,Missense_R379Q,Missense_R375Q,Missense_R379Q,Missense_R320Q exm39223 1 31905942 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_Q390R,Missense_Q385R,Missense_Q381R,Missense_Q385R,Missense_Q326R exm39226 1 31905947 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_G392S,Missense_G387S,Missense_G383S,Missense_G387S,Missense_G328S 1:31906028-TC 1 31906028 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_Y419H,Missense_Y414H,Missense_Y410H,Missense_Y414H,Missense_Y355H rs149780780 1 31906043 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 Silent,Silent,Silent,Silent,Silent rs78108126 1 31906100 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 Silent,Silent,Silent,Silent,Silent exm39235 1 31906932 [T/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_M427I,Missense_M422I,Missense_M418I,Missense_M422I,Missense_M363I exm39237 1 31906948 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_A433T,Missense_A428T,Missense_A424T,Missense_A428T,Missense_A369T exm39239 1 31907012 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_A454V,Missense_A449V,Missense_A445V,Missense_A449V,Missense_A390V 1:31907017-CT 1 31907017 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_L456F,Missense_L451F,Missense_L447F,Missense_L451F,Missense_L392F exm39242 1 31907032 [T/C] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Missense_R461C,Missense_R456C,Missense_R452C,Missense_R456C,Missense_R397C rs6661466 1 31907510 [A/G] NM_001199038,NM_001199037,NM_178865,NM_018565,NM_001199039 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Silent,Silent,Silent,Silent,Silent rs57203436 1 31909586 [T/C] rs75314417 1 31909919 [T/C] rs7548985 1 31915981 [T/C] JHU_1.31917042 1 31917043 [T/G] rs118111681 1 31917094 [A/G] rs137989988 1 31917178 [T/C] rs142862704 1 31917332 [A/G] JHU_1.31921861 1 31921862 [A/G] JHU_1.31932750 1 31932751 [T/A] exm2260174 1 31943343 [T/C] JHU_1.31944045 1 31944046 [C/G] 1:31944076-T-C 1 31944076 [T/C] rs117617968 1 31953715 [A/G] rs4949416 1 31953898 [A/G] rs10798859 1 31955533 [A/G] rs61781672 1 31955639 [T/C] rs12736377 1 31964159 [A/G] JHU_1.31973137 1 31973138 [T/C] NR_034112 LINC01225 EXON Silent 1:31973183-GA 1 31973183 [A/G] NR_034112 LINC01225 Silent rs1574104 1 31973440 [A/G] NR_034112 LINC01225 EXON Silent JHU_1.31974307 1 31974308 [T/G] rs10914419 1 31976437 [T/C] rs10914420 1 31977350 [A/G] rs6684549 1 31982479 [A/C] rs10798867 1 31985446 [A/G] NR_027085 LINC01226 Silent rs10914430 1 31987662 [A/G] NR_027085 LINC01226 EXON Silent rs10493048 1 31993870 [T/C] JHU_1.31995420 1 31995421 [T/C] rs6662915 1 31995973 [T/C] JHU_1.31996062 1 31996063 [T/G] rs72662926 1 31997134 [G/C] rs6425763 1 32001500 [A/G] rs4245634 1 32002287 [T/C] rs74063782 1 32003965 [T/C] rs6425766 1 32007672 [A/G] JHU_1.32007699 1 32007700 [A/G] JHU_1.32007705 1 32007706 [A/G] rs10798873 1 32009650 [T/G] JHU_1.32010874 1 32010875 [A/G] JHU_1.32012559 1 32012560 [G/C] rs4949440 1 32013128 [T/C] JHU_1.32014070 1 32014071 [T/G] rs77292387 1 32014703 [A/C] rs4949441 1 32015974 [A/G] JHU_1.32017422 1 32017423 [G/C] rs115710889 1 32017712 [A/G] JHU_1.32018260 1 32018261 [A/G] rs6670560 1 32019153 [A/C] JHU_1.32019695 1 32019696 [T/G] rs72883756 1 32019807 [T/C] rs74224385 1 32024581 [T/C] rs2377894 1 32031843 [A/G] rs7529828 1 32033221 [A/G] JHU_1.32034025 1 32034026 [T/C] JHU_1.32034244 1 32034245 [A/C] rs35154716 1 32034821 [T/C] rs114913298 1 32036263 [T/C] rs3008407 1 32038925 [C/G] rs111454341 1 32039578 [A/G] rs2992032 1 32041829 [T/C] exm39247 1 32042762 [T/C] NM_001204414,NM_022164 TINAGL1,TINAGL1 EXON Missense_P5S,Missense_P5S JHU_1.32045891 1 32045892 [T/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 Silent,Silent,Silent 1:32046185-TC 1 32046185 [T/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 Silent,Silent,Silent JHU_1.32046602 1 32046603 [T/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 Silent,Silent,Silent JHU_1.32047980 1 32047981 [C/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 Silent,Silent,Silent JHU_1.32048451 1 32048452 [T/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 Silent,Silent,Silent exm39273 1 32049084 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_A133T,Missense_A164T,Missense_A59T exm39276 1 32049151 [T/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_S155L,Missense_S186L,Missense_S81L rs74063905 1 32050085 [T/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 Silent,Silent,Silent exm39281 1 32050289 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_N167S,Missense_N198S,Missense_N93S exm39287 1 32050351 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_E188K,Missense_E219K,Missense_E114K 1:32050376-CA 1 32050376 [A/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_A196E,Missense_A227E,Missense_A122E rs199730232 1 32050468 [T/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 Silent,Silent,Silent 1:32050627-CT 1 32050627 [T/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_R252C,Missense_R283C,Missense_R178C exm39301 1 32050843 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_G286S,Missense_G317S,Missense_G212S 1:32050856-GA 1 32050856 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_R290H,Missense_R321H,Missense_R216H 1:32050933-GA 1 32050933 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_G316S,Missense_G347S,Missense_G242S exm39312 1 32051421 [A/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_S356R,Missense_S387R,Missense_S282R 1:32051478-GA 1 32051478 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 Silent,Silent,Silent rs45611233 1 32052145 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 Silent,Silent,Silent 1:32052343-CT 1 32052343 [T/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_T386M,Missense_T417M,Missense_T312M 1:32052465-CA 1 32052465 [A/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_A399D,Missense_A430D,Missense_A325D exm39319 1 32052477 [A/G] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_R403K,Missense_R434K,Missense_R329K exm39321 1 32052529 [A/C] NM_001204414,NM_022164,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_F420L,Missense_F451L,Missense_F346L rs74420837 1 32053349 [A/C] rs10914446 1 32054094 [A/C] 1:32057897-A-C 1 32057897 [A/C] rs78196735 1 32061295 [A/G] rs4949448 1 32062066 [T/G] JHU_1.32064782 1 32064783 [A/G] rs10914453 1 32075036 [A/G] rs79659859 1 32080405 [A/G] JHU_1.32081756 1 32081757 [A/G] exm39325 1 32084861 [T/C] NM_001525 HCRTR1 EXON Missense_V23A exm39326 1 32084872 [T/G] NM_001525 HCRTR1 EXON Missense_Y27D 1:32084904-CT 1 32084904 [T/C] NM_001525 HCRTR1 EXON Synonymous_R37R rs200964238 1 32084917 [G/C] NM_001525 HCRTR1 EXON Missense_P42A exm39328 1 32084917 [G/C] NM_001525 HCRTR1 EXON Missense_P42A 1:32084943-CT 1 32084943 [T/C] NM_001525 HCRTR1 EXON Synonymous_I50I exm39335 1 32085210 [A/G] NM_001525 HCRTR1 EXON Missense_V93I rs10914455 1 32085637 [A/G] NM_001525 HCRTR1 Silent 1:32086453-GA 1 32086453 [A/G] NM_001525 HCRTR1 EXON Missense_V130M 1:32086541-GA 1 32086541 [A/G] NM_001525 HCRTR1 EXON Missense_R159Q exm39353 1 32086564 [A/G] NM_001525 HCRTR1 EXON Missense_G167S 1:32086591-AG 1 32086591 [A/G] NM_001525 HCRTR1 EXON Missense_M176V exm39356 1 32086654 [T/C] NM_001525 HCRTR1 EXON Missense_R197W exm39366 1 32087189 [A/G] NM_001525 HCRTR1 EXON Missense_R245H JHU_1.32088912 1 32088913 [A/G] NM_001525 HCRTR1 Silent rs187526271 1 32089151 [T/C] NM_001525 HCRTR1 EXON Missense_R256W 1:32089151-CT 1 32089151 [T/C] NM_001525 HCRTR1 EXON Missense_R256W exm39371 1 32089178 [A/C] NM_001525 HCRTR1 EXON Missense_L265M exm39375 1 32089227 [A/G] NM_001525 HCRTR1 EXON Missense_R281H rs200023428 1 32089307 [A/G] NM_001525 HCRTR1 EXON Missense_A308T exm1792172 1 32089307 [A/G] NM_001525 HCRTR1 EXON Missense_A308T exm39385 1 32090600 [T/C] NM_001525 HCRTR1 EXON Missense_V323A rs181149943 1 32090716 [A/G] NM_001525 HCRTR1 EXON Missense_S362G JHU_1.32090873 1 32090874 [T/C] NM_001525 HCRTR1 Silent rs6660179 1 32091410 [T/C] NM_001525 HCRTR1 Silent JHU_1.32091409 1 32091410 [T/C] NM_001525 HCRTR1 Silent rs202193411 1 32092400 [A/G] NM_001525 HCRTR1 EXON Missense_R366Q 1:32092478-GA 1 32092478 [A/G] NM_001525 HCRTR1 EXON Missense_R392H rs2271933 1 32092525 [A/G] NM_001525 HCRTR1 EXON Missense_I408V exm39398 1 32092525 [A/G] NM_001525 HCRTR1 EXON Missense_I408V 1:32096369-CT 1 32096369 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_A234T,Missense_A164T,Silent exm39406 1 32096386 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_R228H,Missense_R158H,Silent 1:32098058-CA 1 32098058 [A/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 Silent,Silent,Silent exm39411 1 32098120 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_I201V,Missense_I131V,Silent exm39413 1 32098137 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_R195Q,Missense_R125Q,Silent 1:32098176-AC 1 32098176 [A/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_F182C,Missense_F112C,Silent JHU_1.32098404 1 32098405 [A/G] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 Silent,Silent,Silent 1:32098801-TC 1 32098801 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_N147S,Missense_N77S,Silent exm39428 1 32100879 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_Y90C,Missense_Y20C,Silent exm39439 1 32101060 [T/G] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_P30T,Silent,Silent 1:32101114-CT 1 32101114 [T/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 EXON Missense_G12R,Silent,Silent rs7524405 1 32108579 [A/C] NM_012392,NM_001359651,NR_033686 PEF1,PEF1,PEF1 Silent,Silent,Silent rs7542583 1 32110813 [A/G] NM_012392,NR_033686 PEF1,PEF1 EXON Silent,Silent 1:32118304-GA 1 32118304 [A/G] NM_001856 COL16A1 EXON Missense_P1588L 1:32118370-GA 1 32118370 [A/G] NM_001856 COL16A1 EXON Missense_P1566L exm39452 1 32119265 [A/G] NM_001856 COL16A1 EXON Missense_T1516I exm39454 1 32119492 [A/G] NM_001856 COL16A1 EXON Missense_R1504W exm39456 1 32119527 [A/G] NM_001856 COL16A1 EXON Missense_S1492L exm1792274 1 32119590 [T/G] NM_001856 COL16A1 EXON Missense_A1471D exm39460 1 32119619 [A/C] NM_001856 COL16A1 EXON Missense_R1461S variant.2154 1 32120417 [A/G] NM_001856 COL16A1 EXON Nonsense_Q1445X exm39463 1 32120423 [T/C] NM_001856 COL16A1 EXON Missense_I1443V exm39464 1 32120944 [A/G] NM_001856 COL16A1 EXON Missense_P1421S exm39472 1 32121026 [G/C] NM_001856 COL16A1 EXON Missense_K1393N JHU_1.32121171 1 32121172 [T/C] NM_001856 COL16A1 Silent rs945215 1 32121548 [T/C] NM_001856 COL16A1 Silent 1:32124090-GT 1 32124090 [T/G] NM_001856 COL16A1 EXON Missense_P1340Q 1:32124540-GA 1 32124540 [A/G] NM_001856 COL16A1 EXON Missense_P1302L JHU_1.32126134 1 32126135 [T/C] NM_001856 COL16A1 Silent exm39484 1 32126672 [T/C] NM_001856 COL16A1 EXON Missense_A1274T exm39486 1 32126681 [A/G] NM_001856 COL16A1 EXON Missense_R1271W 1:32126717-CA 1 32126717 [A/C] NM_001856 COL16A1 EXON Missense_D1259Y 1:32126721-CA 1 32126721 [A/C] NM_001856 COL16A1 Silent 1:32127280-AG-A 1 32127280 [D/I] NM_001856 COL16A1 EXON rs2271928 1 32127953 [A/G] NM_001856 COL16A1 EXON Synonymous_D1221D rs114016347 1 32128167 [A/G] NM_001856 COL16A1 Silent 1:32128189-TC 1 32128189 [T/C] NM_001856 COL16A1 EXON Missense_Q1209R exm39505 1 32130793 [A/G] NM_001856 COL16A1 EXON Missense_P1179S 1:32131194-GA 1 32131194 [A/G] NM_001856 COL16A1 EXON Missense_P1161L 1:32131488-CT 1 32131488 [T/C] NM_001856 COL16A1 EXON Missense_D1151N JHU_1.32132318 1 32132319 [A/G] NM_001856 COL16A1 Silent rs76602519 1 32132556 [A/G] NM_001856 COL16A1 Silent exm39518 1 32133177 [A/G] NM_001856 COL16A1 EXON Missense_P1119L 1:32134416-TC 1 32134416 [T/C] NM_001856 COL16A1 EXON Missense_D1079G exm39539 1 32138045 [A/G] NM_001856 COL16A1 EXON Missense_P1026L exm39543 1 32138199 [A/G] NM_001856 COL16A1 EXON Missense_R1006W exm39544 1 32138208 [T/C] NM_001856 COL16A1 EXON Missense_E1003K 1:32138429-CT 1 32138429 [T/C] NM_001856 COL16A1 EXON Missense_D958N rs909002 1 32139635 [T/C] NM_001856 COL16A1 Silent rs1123948 1 32140944 [T/C] NM_001856 COL16A1 Silent 1:32145187-CA 1 32145187 [A/C] NM_001856 COL16A1 Silent 1:32145244-GA 1 32145244 [A/G] NM_001856 COL16A1 EXON Missense_P921S exm39556 1 32145415 [T/G] NM_001856 COL16A1 EXON Missense_P903Q 1:32145445-GA 1 32145445 [A/G] NM_001856 COL16A1 EXON Missense_P893L exm39563 1 32145693 [T/C] NM_001856 COL16A1 EXON Missense_G874R exm39565 1 32146520 [A/G] NM_001856 COL16A1 EXON Missense_P866S exm39566 1 32146528 [T/C] NM_001856 COL16A1 EXON Missense_E863G 1:32146643-GA 1 32146643 [A/G] NM_001856 COL16A1 EXON Missense_T855M rs2297684 1 32146764 [T/C] NM_001856 COL16A1 Silent rs115686828 1 32147418 [T/C] NM_001856 COL16A1 Silent exm39571 1 32148555 [A/C] NM_001856 COL16A1 EXON Missense_A840S exm39578 1 32148936 [T/A] NM_001856 COL16A1 EXON Missense_Q805L exm39585 1 32149721 [G/C] NM_001856 COL16A1 EXON Missense_P758A 1:32149723-CT 1 32149723 [T/C] NM_001856 COL16A1 EXON Missense_R757Q 1:32149724-GA 1 32149724 [A/G] NM_001856 COL16A1 EXON Nonsense_R757X 1:32149742-CT 1 32149742 [T/C] NM_001856 COL16A1 EXON Missense_G751S exm39595 1 32150183 [A/G] NM_001856 COL16A1 EXON Missense_R701W JHU_1.32150410 1 32150411 [C/G] NM_001856 COL16A1 Silent 1:32151251-GA 1 32151251 [A/G] NM_001856 COL16A1 EXON Missense_P669S 1:32151290-CT 1 32151290 [T/C] NM_001856 COL16A1 EXON Missense_G656R exm39604 1 32151316 [T/C] NM_001856 COL16A1 EXON Missense_R647H exm39605 1 32151331 [T/C] NM_001856 COL16A1 EXON Missense_Q642R 1:32151349-TG-T 1 32151349 [D/I] NM_001856 COL16A1 EXON JHU_1.32151903 1 32151904 [A/G] NM_001856 COL16A1 Silent rs60569660 1 32152720 [T/C] NM_001856 COL16A1 Silent 1:32154516-TG-T 1 32154516 [D/I] NM_001856 COL16A1 EXON chr1_32154562 1 32154562 [A/C] NM_001856 COL16A1 EXON Missense_C556F JHU_1.32154649 1 32154650 [A/C] NM_001856 COL16A1 Silent exm39624 1 32154650 [A/C] NM_001856 COL16A1 Silent rs55915600 1 32155156 [G/C] NM_001856 COL16A1 Silent exm39626 1 32155367 [T/C] NM_001856 COL16A1 EXON Missense_E532G exm39630 1 32155452 [A/C] NM_001856 COL16A1 EXON Missense_G504C rs11589051 1 32155472 [A/G] NM_001856 COL16A1 Silent exm2251352 1 32156157 [T/C] NM_001856 COL16A1 EXON Synonymous_P485P exm39636 1 32156167 [A/G] NM_001856 COL16A1 EXON Missense_S482L exm39637 1 32156817 [A/C] NM_001856 COL16A1 EXON Missense_G470V rs2297680 1 32156940 [A/C] NM_001856 COL16A1 Silent exm39648 1 32157239 [T/C] NM_001856 COL16A1 EXON Missense_R421Q exm39651 1 32157610 [T/C] NM_001856 COL16A1 EXON Missense_R418Q rs144278165 1 32157906 [A/G] NM_001856 COL16A1 Silent exm39655 1 32158076 [T/C] NM_001856 COL16A1 EXON Missense_K398R exm39658 1 32158107 [A/G] NM_001856 COL16A1 EXON Missense_P388S exm39659 1 32158204 [T/C] NM_001856 COL16A1 EXON Missense_A385T exm2251353 1 32158374 [T/C] NM_001856 COL16A1 EXON Synonymous_P369P rs3818788 1 32158374 [T/C] NM_001856 COL16A1 EXON Synonymous_P369P exm39667 1 32158384 [A/G] NM_001856 COL16A1 EXON Missense_P366L 1:32158692-AC-A 1 32158692 [D/I] NM_001856 COL16A1 exm39672 1 32158695 [A/G] NM_001856 COL16A1 EXON Missense_R357W 1:32158740-GA 1 32158740 [A/G] NM_001856 COL16A1 EXON Missense_R342W exm39677 1 32159764 [A/C] NM_001856 COL16A1 EXON Missense_L330R 1:32160781-AC 1 32160781 [A/C] NM_001856 COL16A1 Silent rs144377372 1 32161752 [T/C] NM_001856 COL16A1 Silent 1:32162562-AG 1 32162562 [A/G] NM_001856 COL16A1 Silent exm39694 1 32162598 [T/C] NM_001856 COL16A1 EXON Missense_R277H rs41263973 1 32162810 [A/G] NM_001856 COL16A1 Silent 1:32162859-CT 1 32162859 [T/C] NM_001856 COL16A1 EXON Missense_V234M 1:32163517-TC 1 32163517 [T/C] NM_001856 COL16A1 EXON Missense_K216R exm39701 1 32163521 [G/C] NM_001856 COL16A1 EXON Missense_G215R exm39706 1 32163574 [T/C] NM_001856 COL16A1 EXON Missense_R197Q exm39707 1 32163587 [A/G] NM_001856 COL16A1 EXON Missense_P193S exm39710 1 32163632 [A/G] NM_001856 COL16A1 EXON Missense_R178C exm39712 1 32163704 [G/C] NM_001856 COL16A1 EXON Missense_V154L exm39716 1 32164127 [A/G] NM_001856 COL16A1 EXON Missense_T116M exm39721 1 32164194 [A/G] NM_001856 COL16A1 EXON Missense_R94W exm39723 1 32164206 [T/G] NM_001856 COL16A1 EXON Synonymous_R90R variant.2174 1 32165414 [T/C] NM_001856 COL16A1 EXON Missense_R89Q exm39726 1 32165463 [T/C] NM_001856 COL16A1 EXON Missense_G73R rs2228552 1 32165495 [T/G] NM_001856 COL16A1 EXON Missense_T62K exm39727 1 32165495 [T/G] NM_001856 COL16A1 EXON Missense_T62K 1:32165532-C-CT 1 32165532 [I/D] NM_001856 COL16A1 exm39731 1 32165648 [T/C] NM_001856 COL16A1 EXON Missense_V48M exm39735 1 32167758 [T/C] NM_001856 COL16A1 EXON Missense_G13S rs56232102 1 32168381 [T/C] NM_001856 COL16A1 Silent JHU_1.32170246 1 32170247 [T/G] rs75725724 1 32172534 [T/A] rs11811263 1 32172623 [G/C] rs117869573 1 32174154 [A/G] rs10914472 1 32181220 [T/G] rs58190770 1 32183919 [T/C] JHU_1.32185356 1 32185357 [T/C] JHU_1.32188279 1 32188280 [A/C] exm39737 1 32193044 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_G1578S,Missense_G1545S,Missense_G1579S exm39739 1 32193049 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_P1576L,Missense_P1543L,Missense_P1577L 1:32193621-CT 1 32193621 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent exm39753 1 32193657 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_S1513L,Missense_S1480L,Missense_S1514L exm39757 1 32193790 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_T1502M,Missense_T1469M,Missense_T1503M 1:32193865-CT 1 32193865 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_R1477Q,Missense_R1444Q,Missense_R1478Q exm39761 1 32193866 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_R1477W,Missense_R1444W,Missense_R1478W rs11803707 1 32195088 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent 1:32195541-T-A 1 32195541 [A/T] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent exm39772 1 32196549 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_A1411V,Missense_A1378V,Missense_A1411V exm2233168 1 32196634 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_R1383W,Missense_R1350W,Missense_R1383W JHU_1.32196646 1 32196647 [C/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Synonymous_P1378P,Synonymous_P1345P,Synonymous_P1378P 1:32196688-CT 1 32196688 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_G1365S,Missense_G1332S,Missense_G1365S 1:32196714-CT 1 32196714 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_R1356Q,Missense_R1323Q,Missense_R1356Q rs3766823 1 32197257 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent 1:32198596-CA 1 32198596 [A/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_V1201L,Missense_V1168L,Missense_V1201L exm39800 1 32198619 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_A1193V,Missense_A1160V,Missense_A1193V 1:32198646-TC 1 32198646 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_Q1184R,Missense_Q1151R,Missense_Q1184R 1:32198685-GA 1 32198685 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_A1171V,Missense_A1138V,Missense_A1171V rs77486848 1 32199152 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent exm39809 1 32201182 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_G1118R,Missense_G1118R,Missense_G1118R 1:32201242-CT 1 32201242 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_V1098I,Missense_V1098I,Missense_V1098I exm39818 1 32201439 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_V1086I,Missense_V1086I,Missense_V1086I rs2271932 1 32203218 [A/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent 1:32203265-GA 1 32203265 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_A955V,Missense_A955V,Missense_A955V 1:32203906-CT 1 32203906 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Nonsense_W889X,Nonsense_W889X,Nonsense_W889X 1:32204220-AC 1 32204220 [A/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_D871E,Missense_D871E,Missense_D871E 1:32204990-GT 1 32204990 [T/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_P805Q,Missense_P805Q,Missense_P805Q 1:32205056-GA 1 32205056 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_P783L,Missense_P783L,Missense_P783L 1:32205082-T-TG 1 32205082 [D/I] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON exm39873 1 32205180 [A/T] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_M742L,Missense_M742L,Missense_M742L 1:32205603-GA 1 32205603 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Synonymous_V697V,Synonymous_V697V,Synonymous_V697V exm39881 1 32205615 [G/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_H693Q,Missense_H693Q,Missense_H693Q exm39888 1 32206054 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_R628Q,Missense_R628Q,Missense_R628Q JHU_1.32206555 1 32206556 [A/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent 1:32207065-CT 1 32207065 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_R568H,Missense_R568H,Missense_R568H 1:32207774-TC 1 32207774 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_T433A,Missense_T433A,Missense_T433A 1:32208442-GA 1 32208442 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_P417S,Missense_P417S,Missense_P417S rs182131240 1 32208821 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent exm39914 1 32209821 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_P354S,Missense_P354S,Missense_P354S exm39918 1 32209949 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_A311V,Missense_A311V,Missense_A311V exm39927 1 32210312 [G/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_P287A,Missense_P287A,Missense_P287A rs12035217 1 32212514 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent 1:32221666-GA 1 32221666 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_P258S,Missense_P258S,Missense_P258S chr1_32221820 1 32221820 [A/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_E206D,Missense_E206D,Missense_E206D 1:32222079-TG 1 32222079 [T/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_Q120P,Missense_Q120P,Missense_Q120P exm1792686 1 32222087 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Synonymous_A117A,Synonymous_A117A,Synonymous_A117A exm2251357 1 32222087 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Synonymous_A117A,Synonymous_A117A,Synonymous_A117A exm39956 1 32222088 [A/G] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_A117V,Missense_A117V,Missense_A117V 1:32222290-CT 1 32222290 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_G50R,Missense_G50R,Missense_G50R exm39974 1 32222347 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 EXON Missense_T31A,Missense_T31A,Missense_T31A rs111292994 1 32223616 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent JHU_1.32225258 1 32225259 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent JHU_1.32226680 1 32226681 [T/C] NM_001294335,NM_001294336,NM_001364857 ADGRB2,ADGRB2,ADGRB2 Silent,Silent,Silent Variant37833 1 32230280 [T/C] rs144269592 1 32236532 [A/C] JHU_1.32237657 1 32237658 [A/G] JHU_1.32239870 1 32239871 [T/C] rs11804958 1 32240078 [T/C] rs60591831 1 32240968 [T/C] rs115618278 1 32241085 [A/G] rs630319 1 32241227 [A/G] rs6656287 1 32252615 [T/C] JHU_1.32255062 1 32255063 [A/C] rs190724853 1 32256303 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Synonymous_S664S,Synonymous_S1184S,Synonymous_S1171S exm39989 1 32256329 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_P656S,Missense_P1176S,Missense_P1163S exm39990 1 32256385 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_A637V,Missense_A1157V,Missense_A1144V 1:32256406-AG 1 32256406 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_L630P,Missense_L1150P,Missense_L1137P exm39994 1 32256433 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_R621K,Missense_R1141K,Missense_R1128K 1:32256451-CT 1 32256451 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_R615H,Missense_R1135H,Missense_R1122H exm39996 1 32256452 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_R615C,Missense_R1135C,Missense_R1122C newrs144211428 1 32256683 [T/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_P538T,Missense_P1058T,Missense_P1045T variant.2183 1 32256691 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_P535L,Missense_P1055L,Missense_P1042L indel.2184 1 32256751 [I/D] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON exm40009 1 32257833 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_R475H,Missense_R982H,Missense_R982H 1:32258958-CA 1 32258958 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_G362V,Missense_G869V,Missense_G869V exm40026 1 32259363 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_T333M,Missense_T840M,Missense_T840M exm40030 1 32259445 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_G306R,Missense_G813R,Missense_G813R exm40037 1 32259775 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_T271M,Missense_T778M,Missense_T778M exm40038 1 32259791 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_A266T,Missense_A773T,Missense_A773T exm40046 1 32262292 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Nonsense_Q217X,Nonsense_Q724X,Nonsense_Q724X 1:32263902-TC 1 32263902 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_H177R,Missense_H684R,Missense_H684R 1:32263932-GA 1 32263932 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent 1:32263957-CT 1 32263957 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent 1:32263974-CT 1 32263974 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent exm1792735 1 32264191 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_L120R,Missense_L627R,Missense_L627R Variant37834 1 32264223 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent 1:32264224-GA 1 32264224 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent 1:32264228-GA 1 32264228 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent exm40062 1 32265054 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_I99V,Missense_I606V,Missense_I606V JHU_1.32265557 1 32265558 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent exm40066 1 32265676 [T/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_P50T,Missense_P557T,Missense_P557T 1:32266049-CT 1 32266049 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Missense_G25E,Missense_G532E,Missense_G532E rs78230117 1 32268337 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent JHU_1.32275138 1 32275139 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent JHU_1.32276530 1 32276531 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent rs2184202 1 32277199 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent 1:32277583-A-C 1 32277583 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent rs751137 1 32278308 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent rs75385257 1 32278800 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 Silent,Silent,Silent 1:32279696-GT 1 32279696 [T/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_F413L,Missense_F413L 1:32279718-CA 1 32279718 [A/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_S406I,Missense_S406I 1:32279764-GA 1 32279764 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_R391W,Missense_R391W exm40100 1 32279871 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_Q355R,Missense_Q355R exm40102 1 32279890 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_T349A,Missense_T349A exm40106 1 32280063 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_T291I,Missense_T291I exm40107 1 32280069 [G/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_P289R,Missense_P289R exm40112 1 32280237 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_R233H,Missense_R233H exm1792757 1 32280367 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_P190S,Missense_P190S exm40118 1 32280369 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_P189L,Missense_P189L 1:32280546-CT 1 32280546 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_S130N,Missense_S130N exm40129 1 32280610 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_T109A,Missense_T109A exm40131 1 32280660 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_R92Q,Missense_R92Q exm40132 1 32280699 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_R79Q,Missense_R79Q exm40133 1 32280724 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_R71W,Missense_R71W 1:32280739-GA 1 32280739 [A/G] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Nonsense_R66X,Nonsense_R66X exm40135 1 32280787 [T/C] NM_001281988,NM_144569,NM_001281987 SPOCD1,SPOCD1,SPOCD1 EXON Silent,Missense_G50R,Missense_G50R rs72889211 1 32287259 [A/G] rs202217621 1 32288325 [A/G] JHU_1.32291248 1 32291249 [A/G] rs4949473 1 32296525 [T/C] rs114701285 1 32300332 [T/G] rs7550362 1 32301876 [A/T] rs11578323 1 32302108 [T/C] rs12733547 1 32307399 [T/G] rs12565351 1 32311335 [A/C] rs7518553 1 32315147 [T/C] rs12076870 1 32321694 [T/C] rs12565681 1 32322733 [T/C] JHU_1.32324945 1 32324946 [T/C] JHU_1.32329670 1 32329671 [A/G] rs12034505 1 32331519 [T/G] rs2184203 1 32334477 [G/C] rs11805047 1 32336784 [A/G] rs687605 1 32342334 [A/G] rs594540 1 32343368 [T/C] 1:32346010-A-T 1 32346010 [T/A] rs597987 1 32347171 [T/C] rs78621080 1 32347320 [A/G] rs112052411 1 32353152 [A/G] rs143804695 1 32369541 [A/C] rs684484 1 32371137 [C/G] rs16834765 1 32371442 [T/C] rs646689 1 32372026 [A/G] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 EXON Silent,Silent,Silent rs639233 1 32372881 [T/C] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 EXON Silent,Silent,Silent JHU_1.32373713 1 32373714 [T/A] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 EXON Silent,Silent,Silent rs111570278 1 32374183 [T/C] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 EXON Silent,Silent,Silent indel.2196 1 32374453 [D/I] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 EXON variant.2197 1 32374497 [A/G] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 EXON Nonsense_R154X,Nonsense_R129X,Nonsense_R123X 1:32374504-AG 1 32374504 [A/G] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 EXON Synonymous_P151P,Synonymous_P126P,Synonymous_P120P 1:32378581-CA 1 32378581 [A/C] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 Silent,Silent,Silent 1:32379964-CT 1 32379964 [T/C] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 Silent,Silent,Silent Variant12357 1 32379997 [I/D] NM_080391,NM_001195100,NM_001195101 PTP4A2,PTP4A2,PTP4A2 rs116193764 1 32386834 [T/C] NM_080391 PTP4A2 Silent rs563978 1 32390324 [T/C] NM_080391 PTP4A2 Silent rs12739816 1 32396003 [T/C] NM_080391 PTP4A2 Silent JHU_1.32415655 1 32415656 [A/C] JHU_1.32422097 1 32422098 [T/G] rs67415556 1 32422112 [A/G] rs79052774 1 32425723 [A/G] rs72666712 1 32425734 [T/C] JHU_1.32425922 1 32425923 [A/G] JHU_1.32434435 1 32434436 [A/G] rs151038488 1 32435092 [T/G] JHU_1.32437880 1 32437881 [T/C] exm2264817 1 32438234 [A/G] kgp2275913 1 32438515 [T/C] rs74735165 1 32438693 [A/G] rs7513163 1 32444908 [A/G] 1:32466287-T-C 1 32466287 [T/C] rs117575681 1 32467875 [A/G] JHU_1.32477782 1 32477783 [A/G] 1:32479853-TC 1 32479853 [T/C] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Silent,Missense_L86P,Silent,Missense_L86P 1:32479874-CA 1 32479874 [A/C] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Silent,Missense_A93D,Silent,Missense_A93D 1:32479877-CA 1 32479877 [A/C] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Silent,Nonsense_S94X,Silent,Nonsense_S94X 1:32479958-CT 1 32479958 [T/C] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Silent,Missense_A121V,Silent,Missense_A121V JHU_1.32480656 1 32480657 [A/G] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 Silent,Silent,Silent,Silent JHU_1.32494531 1 32494532 [A/G] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 Silent,Silent,Silent,Silent rs6662484 1 32497793 [A/G] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 Silent,Silent,Silent,Silent rs77919993 1 32498213 [A/G] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 Silent,Silent,Silent,Silent 1:32499461-A-G 1 32499461 [A/G] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 Silent,Silent,Silent,Silent rs16834840 1 32501043 [T/C] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 Silent,Silent,Silent,Silent JHU_1.32502357 1 32502358 [T/G] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 Silent,Silent,Silent,Silent exm40173 1 32502626 [T/C] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Silent,Missense_P296L,Silent,Missense_P257L 1:32504217-AG 1 32504217 [A/G] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Silent,Missense_Q391R,Silent,Missense_Q352R exm40188 1 32508204 [C/G] NR_073499,NM_006559,NR_073498,NM_001271878 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Silent,Missense_E437D,Silent,Missense_E398D rs12117462 1 32509859 [A/G] NR_073499 KHDRBS1 Silent rs183339088 1 32509964 [A/G] NR_073499 KHDRBS1 Silent rs7516447 1 32515051 [T/C] NR_073499 KHDRBS1 Silent JHU_1.32521793 1 32521794 [A/G] NR_073499 KHDRBS1 Silent JHU_1.32522349 1 32522350 [A/G] NR_073499 KHDRBS1 Silent JHU_1.32524785 1 32524786 [A/C] NR_073499 KHDRBS1 Silent rs150554129 1 32531183 [A/G] rs185354199 1 32537989 [A/G] NM_001319677 TMEM39B EXON Silent exm40198 1 32542819 [T/C] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_R37C,Silent,Missense_R164C,Silent chr1_32542871 1 32542871 [A/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_H54R,Silent,Missense_H181R,Silent rs72666733 1 32550853 [C/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B Silent,Silent,Silent,Silent rs6672317 1 32554585 [A/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B Silent,Silent,Silent,Silent 1:32557319-CT 1 32557319 [T/C] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_R85C,Missense_R13C,Missense_R212C,Missense_R13C 1:32557346-GA 1 32557346 [A/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_A94T,Missense_A22T,Missense_A221T,Missense_A22T rs744455 1 32557486 [A/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Synonymous_S140S,Synonymous_S68S,Synonymous_S267S,Synonymous_S68S 1:32557556-GA 1 32557556 [A/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_V164I,Missense_V92I,Missense_V291I,Missense_V92I exm40221 1 32557607 [A/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_V181M,Missense_V109M,Missense_V308M,Missense_V109M 1:32560511-GA 1 32560511 [A/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_A225T,Missense_A153T,Missense_A352T,Missense_A153T rs74536384 1 32560719 [G/C] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B Silent,Silent,Silent,Silent exm40235 1 32566070 [T/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_Q254H,Missense_Q182H,Missense_Q381H,Missense_Q182H 1:32566260-CT 1 32566260 [T/C] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B Silent,Silent,Silent,Silent exm40243 1 32568247 [T/G] NM_001319677,NM_001319678,NM_018056,NM_001319679 TMEM39B,TMEM39B,TMEM39B,TMEM39B EXON Missense_Q357H,Missense_Q285H,Missense_Q484H,Missense_Q285H kgp10497040 1 32575567 [T/C] NM_012316 KPNA6 Silent JHU_1.32584572 1 32584573 [A/G] NM_012316 KPNA6 Silent JHU_1.32595557 1 32595558 [A/G] NM_012316 KPNA6 Silent JHU_1.32595615 1 32595616 [A/G] NM_012316 KPNA6 Silent JHU_1.32604547 1 32604548 [T/C] NM_012316 KPNA6 Silent JHU_1.32606695 1 32606696 [A/G] NM_012316 KPNA6 Silent JHU_1.32606970 1 32606971 [T/G] NM_012316 KPNA6 Silent rs145691692 1 32611812 [A/G] NM_012316 KPNA6 Silent exm40264 1 32620194 [A/G] NM_012316 KPNA6 EXON Missense_M4V exm40269 1 32620269 [T/C] NM_012316 KPNA6 EXON Nonsense_R29X exm40272 1 32622496 [T/G] NM_012316 KPNA6 EXON Missense_A61S chr1_32622535 1 32622535 [T/C] NM_012316 KPNA6 EXON Missense_S74P rs77488173 1 32626436 [A/G] NM_012316 KPNA6 Silent rs7538308 1 32627918 [T/C] NM_012316 KPNA6 Silent rs3818075 1 32629196 [T/G] NM_012316 KPNA6 Silent 1:32632777-TC 1 32632777 [T/C] NM_012316 KPNA6 EXON Missense_I375T exm1793608 1 32635611 [A/G] NM_012316 KPNA6 EXON Missense_R458H exm40304 1 32636403 [A/G] NM_012316 KPNA6 EXON Missense_D507N exm2251372 1 32636450 [T/C] NM_012316 KPNA6 EXON Synonymous_F522F exm40306 1 32636450 [T/C] NM_012316 KPNA6 EXON Synonymous_F522F 1:32636475-AG 1 32636475 [A/G] NM_012316 KPNA6 EXON Missense_M531V rs145183590 1 32638816 [T/C] NM_012316 KPNA6 EXON Silent 1:32645990-AG 1 32645990 [A/G] NM_175852 TXLNA EXON Missense_N15S exm40317 1 32646092 [A/G] NM_175852 TXLNA EXON Missense_S49N 1:32646114-GT 1 32646114 [T/G] NM_175852 TXLNA EXON Missense_E56D exm40322 1 32646953 [A/G] NM_175852 TXLNA EXON Missense_G94S exm40327 1 32647062 [A/G] NM_175852 TXLNA EXON Missense_N130S 1:32647092-CT 1 32647092 [T/C] NM_175852 TXLNA EXON Missense_P140L exm40332 1 32647133 [G/C] NM_175852 TXLNA EXON Missense_R154G exm40334 1 32647161 [A/G] NM_175852 TXLNA EXON Missense_K163R 1:32650183-AG 1 32650183 [A/G] NM_175852 TXLNA EXON Missense_K188R exm40340 1 32653591 [T/C] NM_175852 TXLNA EXON Missense_L212F 1:32653694-GA 1 32653694 [A/G] NM_175852 TXLNA EXON Missense_R246H JHU_1.32654556 1 32654557 [A/G] NM_175852 TXLNA Silent rs79163770 1 32654805 [C/G] NM_175852 TXLNA Silent JHU_1.32655153 1 32655154 [T/G] NM_175852 TXLNA Silent 1:32655672-GA 1 32655672 [A/G] NM_175852 TXLNA EXON Missense_R262Q exm2251374 1 32655763 [T/C] NM_175852 TXLNA EXON Synonymous_N292N 1:32655767-CT 1 32655767 [T/C] NM_175852 TXLNA EXON Missense_R294C rs61781201 1 32657287 [T/G] NM_175852 TXLNA Silent exm40356 1 32658009 [A/G] NM_175852 TXLNA EXON Missense_R354Q 1:32658878-AG 1 32658878 [A/G] NM_175852 TXLNA EXON Missense_T410A JHU_1.32664549 1 32664550 [G/C] rs16834926 1 32664866 [A/G] rs143020605 1 32667122 [T/C] NM_024296,NM_001301011 CCDC28B,CCDC28B Silent,Silent 1:32667580-CT 1 32667580 [T/C] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Missense_A15V,Missense_A15V exm40380 1 32667609 [T/C] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Missense_R25W,Missense_R25W rs6425793 1 32668428 [A/G] NM_024296,NM_001301011 CCDC28B,CCDC28B Silent,Silent rs6697312 1 32669424 [A/G] NM_024296,NM_001301011 CCDC28B,CCDC28B Silent,Silent 1:32669533-CT 1 32669533 [T/C] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Missense_A73V,Missense_A73V exm40400 1 32669918 [A/G] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Missense_G155R,Missense_G155R variant.2203 1 32669981 [A/G] NM_024296,NM_001301011 CCDC28B,CCDC28B Silent,Silent 1:32670354-AC 1 32670354 [A/C] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Silent,Missense_R227S 1:32670793-AG 1 32670793 [A/G] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Silent,Silent exm40411 1 32670842 [A/C] NM_024296,NM_001301011 CCDC28B,CCDC28B EXON Missense_A199D,Silent 1:32671307-AG 1 32671307 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_K9E,Missense_K9E Variant49 1 32671559 [I/D] NM_001160042,NM_018134 IQCC,IQCC EXON exm40422 1 32671801 [T/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R110L,Missense_R30L 1:32671870-GA 1 32671870 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R133H,Missense_R53H var_1_32672109 1 32672109 [A/G] NM_001160042,NM_018134 IQCC,IQCC Silent,Silent 1:32672113-GA 1 32672113 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_A144T,Missense_A64T exm40427 1 32672143 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_D154N,Missense_D74N 1:32672171-TC 1 32672171 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_L163P,Missense_L83P exm40430 1 32672189 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_C169Y,Missense_C89Y 1:32672209-GA 1 32672209 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_A176T,Missense_A96T 1:32672213-CG 1 32672213 [C/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_T177S,Missense_T97S exm40446 1 32672713 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R264C,Missense_R184C 1:32672884-CT 1 32672884 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_P281L,Missense_P201L exm40453 1 32672932 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_C297Y,Missense_C217Y exm40454 1 32672958 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_A306T,Missense_A226T exm2233180 1 32672985 [T/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_D315Y,Missense_D235Y exm40456 1 32673085 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_I348T,Missense_I268T 1:32673136-CT 1 32673136 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_S365L,Missense_S285L exm40462 1 32673184 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_G381E,Missense_G301E 1:32673279-CT 1 32673279 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_H413Y,Missense_H333Y exm40468 1 32673381 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Nonsense_R447X,Nonsense_R367X exm40469 1 32673382 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R447Q,Missense_R367Q 1:32673441-CT-C 1 32673441 [I/D] NM_001160042,NM_018134 IQCC,IQCC EXON exm40474 1 32673460 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_S473N,Missense_S393N exm40477 1 32673514 [C/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_R491T,Missense_R411T exm40478 1 32673516 [A/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_S492R,Missense_S412R exm40479 1 32673540 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_E500K,Missense_E420K newrs138692176 1 32673584 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Nonsense_W514X,Nonsense_W434X exm40480 1 32673584 [A/G] NM_001160042,NM_018134 IQCC,IQCC EXON Nonsense_W514X,Nonsense_W434X exm40482 1 32673625 [T/G] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_G528V,Missense_G448V exm40484 1 32673673 [T/C] NM_001160042,NM_018134 IQCC,IQCC EXON Missense_P544L,Missense_P464L 1:32674742-T-TG 1 32674742 [D/I] NM_001099434 DCDC2B EXON 1:32674786-GA 1 32674786 [A/G] NM_001099434 DCDC2B EXON Missense_R31H 1:32674854-CT 1 32674854 [T/C] NM_001099434 DCDC2B EXON Missense_R54C exm40502 1 32674925 [A/T] NM_001099434 DCDC2B EXON Nonsense_Y77X exm40505 1 32676873 [T/C] NM_001099434 DCDC2B EXON Synonymous_H89H exm40510 1 32677404 [T/C] NM_001099434 DCDC2B EXON Missense_R121W exm40511 1 32677405 [A/G] NM_001099434 DCDC2B EXON Missense_R121Q exm40512 1 32677420 [A/G] NM_001099434 DCDC2B EXON Missense_G126D 1:32677741-TC 1 32677741 [T/C] NM_001099434 DCDC2B EXON Missense_W156R 1:32678164-GA 1 32678164 [A/G] NM_001099434 DCDC2B EXON Missense_G201R exm40520 1 32678180 [A/G] NM_001099434 DCDC2B EXON Missense_K206R variant.2222 1 32680449 [T/C] NM_001099434,NR_133635,NR_133636 DCDC2B,TMEM234,TMEM234 EXON Nonsense_R256X,Silent,Silent exm40535 1 32680494 [T/C] NM_001099434,NR_133635,NR_133636 DCDC2B,TMEM234,TMEM234 EXON Nonsense_Q271X,Silent,Silent exm40536 1 32680530 [A/T] NM_001099434,NR_133635,NR_133636 DCDC2B,TMEM234,TMEM234 EXON Missense_S283T,Silent,Silent 1:32681074-AG-A 1 32681074 [D/I] NM_001099434,NR_133635,NR_133636 DCDC2B,TMEM234,TMEM234 EXON exm40550 1 32682471 [T/G] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 EXON Silent,Silent,Silent,Missense_Q136K 1:32682739-GA 1 32682739 [A/G] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 Silent,Silent,Silent,Silent variant.2227 1 32682843 [T/G] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 Silent,Silent,Silent,Silent exm40559 1 32682896 [A/C] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 EXON Silent,Silent,Silent,Missense_V98F indel.2229 1 32682896 [I/D] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 EXON indel.2230 1 32682917 [D/I] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 EXON exm40564 1 32682947 [T/C] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 EXON Silent,Silent,Silent,Missense_T81A rs75270174 1 32685204 [A/G] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 Silent,Silent,Silent,Silent 1:32686755-TC 1 32686755 [T/C] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 EXON Silent,Silent,Silent,Missense_Y71C newrs146923152 1 32686800 [T/C] NR_133635,NR_133636,NR_133634,NM_019118 TMEM234,TMEM234,TMEM234,TMEM234 Silent,Silent,Silent,Silent variant.2233 1 32687500 [A/G] NR_133635,NR_133636,NR_133634,NM_019118,NM_003757 TMEM234,TMEM234,TMEM234,TMEM234,EIF3I EXON Silent,Silent,Silent,Nonsense_Q46X,Silent exm40578 1 32687616 [T/C] NR_133635,NR_133636,NR_133634,NM_019118,NM_003757 TMEM234,TMEM234,TMEM234,TMEM234,EIF3I EXON Silent,Silent,Silent,Missense_Q7R,Silent JHU_1.32687763 1 32687764 [A/G] NR_133635,NR_133636,NR_133634,NM_019118,NM_003757 TMEM234,TMEM234,TMEM234,TMEM234,EIF3I Silent,Silent,Silent,Silent,Silent rs149400634 1 32687888 [A/G] NR_133635,NR_133636,NR_133634,NM_019118,NM_003757 TMEM234,TMEM234,TMEM234,TMEM234,EIF3I Silent,Silent,Silent,Silent,Silent exm40583 1 32687914 [A/T] NR_133635,NR_133636,NR_133634,NM_019118,NM_003757 TMEM234,TMEM234,TMEM234,TMEM234,EIF3I EXON Silent,Silent,Silent,Missense_S4T,Silent 1:32692037-AG 1 32692037 [A/G] NM_003757 EIF3I EXON Missense_N145S exm40617 1 32694351 [A/T] NM_003757 EIF3I EXON Missense_E221D JHU_1.32707012 1 32707013 [T/C] NR_026850 MTMR9LP EXON Silent rs669538 1 32711360 [T/C] exm40629 1 32713033 [A/G] NM_032648 FAM167B EXON Missense_G4E 1:32713219-GA 1 32713219 [A/G] NM_032648 FAM167B EXON Missense_G66E exm40638 1 32713257 [A/G] NM_032648 FAM167B EXON Missense_A79T exm40643 1 32714047 [A/G] NM_032648 FAM167B EXON Missense_M113V exm40644 1 32714049 [A/G] NM_032648 FAM167B EXON Missense_M113I chr1_32714174 1 32714174 [T/G] NM_032648 FAM167B EXON Missense_I155S rs10914539 1 32715641 [T/G] rs10914540 1 32715821 [A/G] rs77703801 1 32718349 [T/G] NM_001330468,NM_005356 LCK,LCK Silent,Silent rs79979643 1 32738415 [A/G] NM_001330468,NM_005356 LCK,LCK Silent,Silent exm40649 1 32740366 [A/G] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_R45Q,Missense_R45Q,Missense_R45Q exm40651 1 32740393 [C/G] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_S54C,Missense_S54C,Missense_S54C chr1_32740396 1 32740396 [A/G] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_N55S,Missense_N55S,Missense_N55S 1:32740405-CT 1 32740405 [T/C] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_A58V,Missense_A58V,Missense_A58V 1:32740551-CT 1 32740551 [T/C] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK Silent,Silent,Silent chr1_32740650 1 32740650 [T/C] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_F82L,Missense_F82L,Missense_F82L 1:32740924-GA 1 32740924 [A/G] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_S94N,Missense_S94N,Missense_S94N 1:32741190-GT 1 32741190 [T/G] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_S133I,Missense_S133I,Missense_S133I 1:32741225-GT 1 32741225 [T/G] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_G145W,Missense_G145W,Missense_G145W 1:32741257-GT 1 32741257 [T/G] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_E155D,Missense_E155D,Missense_E155D 1:32741265-GA 1 32741265 [A/G] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_S158N,Missense_S158N,Missense_S158N rs201830817 1 32745281 [T/C] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_V274A,Missense_V325A,Missense_V325A 1:32745329-T-C 1 32745329 [T/C] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_L290P,Missense_L341P,Missense_L341P exm40679 1 32745458 [A/C] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_A302E,Missense_A353E,Missense_A353E 1:32745731-CT 1 32745731 [T/C] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK EXON Missense_T365I,Missense_T416I,Missense_T416I JHU_1.32749209 1 32749210 [A/C] NM_001330468,NM_005356,NM_001042771 LCK,LCK,LCK Silent,Silent,Silent rs11807976 1 32752074 [A/G] rs117464850 1 32756162 [T/G] rs1741981 1 32756439 [T/C] rs36212121 1 32756515 [A/G] 1:32756803-A-C 1 32756803 [A/C] rs141493297 1 32761155 [A/G] NM_004964 HDAC1 Silent rs193182729 1 32768943 [G/C] NM_004964 HDAC1 Silent rs193271056 1 32779077 [A/G] NM_004964 HDAC1 Silent 1:32782372-AG 1 32782372 [A/G] NM_004964 HDAC1 EXON Missense_Q90R JHU_1.32786844 1 32786845 [T/A] NM_004964 HDAC1 Silent seq-rs797044931 1 32792645 [A/G] NM_004964 HDAC1 EXON Missense_N154S 1:32793306-GA 1 32793306 [A/G] NM_004964 HDAC1 Silent rs75753706 1 32794447 [T/C] NM_004964 HDAC1 Silent newrs145372036 1 32794717 [T/C] NM_004964 HDAC1 EXON Nonsense_R229X exm40738 1 32797183 [A/G] NM_004964 HDAC1 EXON Missense_K363R variant.2242 1 32797183 [A/G] NM_004964 HDAC1 EXON Missense_K363R exm40743 1 32797371 [A/G] NM_004964 HDAC1 EXON Missense_D395N 1:32797831-AGAG-A 1 32797831 [D/I] NM_004964 HDAC1 EXON 1:32798308-CT 1 32798308 [T/C] NM_004964 HDAC1 EXON Missense_T460I exm2233186 1 32798310 [G/C] NM_004964 HDAC1 EXON Missense_E461Q 1:32800274-GA 1 32800274 [A/G] NM_023009,NR_052852 MARCKSL1,MARCKSL1 EXON Missense_P171L,Silent exm40767 1 32800320 [T/C] NM_023009,NR_052852 MARCKSL1,MARCKSL1 EXON Missense_A156T,Silent 1:32800401-CCCTGCT-C 1 32800401 [I/D] NM_023009,NR_052852 MARCKSL1,MARCKSL1 EXON exm40778 1 32800640 [A/G] NM_023009,NR_052852 MARCKSL1,MARCKSL1 EXON Missense_P49L,Silent JHU_1.32803781 1 32803782 [A/G] JHU_1.32815123 1 32815124 [A/C] JHU_1.32815408 1 32815409 [A/G] rs115696513 1 32816930 [A/G] JHU_1.32825821 1 32825822 [T/C] rs7532909 1 32826793 [T/C] 1:32827084-TC 1 32827084 [T/C] NM_001167676 FAM229A EXON Missense_I112V exm40794 1 32828349 [T/C] NM_052841 TSSK3 EXON Missense_I16T indel.2243 1 32828383 [I/D] NM_052841 TSSK3 EXON exm40803 1 32829261 [A/G] NM_052841 TSSK3 EXON Missense_I71V exm2233188 1 32829268 [T/C] NM_052841 TSSK3 EXON Missense_V73A rs2270537 1 32829281 [A/G] NM_052841 TSSK3 EXON Synonymous_L77L exm40809 1 32829321 [A/G] NM_052841 TSSK3 EXON Missense_A91T 1:32829379-GA 1 32829379 [A/G] NM_052841 TSSK3 EXON Missense_R110Q rs144839297 1 32829448 [A/G] NM_052841 TSSK3 EXON Missense_R133Q exm40818 1 32829448 [A/G] NM_052841 TSSK3 EXON Missense_R133Q exm40828 1 32829642 [A/G] NM_052841 TSSK3 EXON Missense_V198M rs151204655 1 32829642 [A/G] NM_052841 TSSK3 EXON Missense_V198M 1:32829724-GT 1 32829724 [T/G] NM_052841 TSSK3 EXON Missense_G225V 1:32829757-CA 1 32829757 [A/C] NM_052841 TSSK3 EXON Missense_A236D exm40840 1 32829807 [T/C] NM_052841 TSSK3 EXON Missense_R253W 1:32829817-TC 1 32829817 [T/C] NM_052841 TSSK3 EXON Missense_I256T exm40846 1 32834055 [A/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S362F,Missense_S323F,Missense_S435F,Missense_S418F,Silent,Missense_S435F chr1_32834078 1 32834078 [A/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_M354I,Missense_M315I,Missense_M427I,Missense_M410I,Silent,Missense_M427I exm40850 1 32834137 [T/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_I335V,Missense_I296V,Missense_I408V,Missense_I391V,Silent,Missense_I408V 1:32834834-GA 1 32834834 [A/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Silent,Silent,Silent,Silent,Silent,Silent 1:32834858-GA 1 32834858 [A/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Silent,Silent,Silent,Silent,Silent,Silent 1:32841872-CA 1 32841872 [A/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Nonsense_G327X,Nonsense_G288X,Nonsense_G400X,Nonsense_G383X,Silent,Nonsense_G400X 1:32841875-TC 1 32841875 [T/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_N326D,Missense_N287D,Missense_N399D,Missense_N382D,Silent,Missense_N399D 1:32842054-TC 1 32842054 [T/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_D266G,Missense_D227G,Missense_D339G,Missense_D322G,Silent,Missense_D339G 1:32842249-TC 1 32842249 [T/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_Q201R,Missense_Q162R,Missense_Q274R,Missense_Q257R,Silent,Missense_Q274R exm40867 1 32843606 [T/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S158N,Missense_S119N,Missense_S231N,Missense_S214N,Silent,Missense_S231N 1:32843872-CA 1 32843872 [A/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_V125F,Missense_V86F,Missense_V198F,Missense_V181F,Silent,Missense_V198F exm40877 1 32844350 [T/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S112Y,Missense_S73Y,Missense_S185Y,Missense_S168Y,Silent,Missense_S185Y 1:32844369-GA 1 32844369 [A/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_L106F,Missense_L67F,Missense_L179F,Missense_L162F,Silent,Missense_L179F 1:32844393-CA 1 32844393 [A/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Nonsense_E98X,Nonsense_E59X,Nonsense_E171X,Nonsense_E154X,Silent,Nonsense_E171X 1:32844401-CA 1 32844401 [A/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_C95F,Missense_C56F,Missense_C168F,Missense_C151F,Silent,Missense_C168F rs140430995 1 32846589 [A/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 Silent,Silent,Silent,Silent,Silent,Silent 1:32846815-CT 1 32846815 [T/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_G82R,Missense_G43R,Missense_G155R,Missense_G138R,Silent,Missense_G155R exm40879 1 32846847 [A/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S71L,Missense_S32L,Missense_S144L,Missense_S127L,Silent,Missense_S144L exm40886 1 32852429 [A/G] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_T47M,Silent,Missense_T47M,Missense_T47M,Silent,Missense_T47M JHU_1.32858279 1 32858280 [T/C] NM_001143889,NM_001143890,NM_001300958,NM_018045,NR_125352,NM_001143888 BSDC1,BSDC1,BSDC1,BSDC1,BSDC1,BSDC1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.32865495 1 32865496 [T/C] rs10914555 1 32879586 [T/C] rs148547656 1 32881853 [T/C] rs149676081 1 32891685 [C/G] rs59580866 1 32896965 [A/T] rs11588809 1 32904611 [T/C] rs143730750 1 32905256 [T/C] rs182540631 1 32905481 [A/C] JHU_1.32914814 1 32914815 [A/G] 1:32924081-G-C 1 32924081 [C/G] JHU_1.32932105 1 32932106 [A/G] NM_001145720 ZBTB8B Silent rs112672497 1 32932424 [T/G] NM_001145720 ZBTB8B Silent JHU_1.32937139 1 32937140 [A/G] NM_001145720 ZBTB8B EXON Synonymous_E305E exm40913 1 32937153 [A/G] NM_001145720 ZBTB8B EXON Missense_G310S rs111753221 1 32938712 [T/C] NM_001145720 ZBTB8B Silent 1:32946518-CT 1 32946518 [T/C] NM_001145720 ZBTB8B EXON Missense_L340F 1:32946581-CT 1 32946581 [T/C] NM_001145720 ZBTB8B EXON Missense_R361C exm2251389 1 32950719 [T/C] NM_001145720 ZBTB8B EXON Synonymous_R396R 1:32950810-GA 1 32950810 [A/G] NM_001145720 ZBTB8B EXON Missense_V427I 1:32950825-CGAT-C 1 32950825 [D/I] NM_001145720 ZBTB8B EXON Variant37839 1 32951002 [T/C] NM_001145720 ZBTB8B EXON Nonsense_R491X rs59307820 1 32951479 [A/G] NM_001145720 ZBTB8B EXON Silent JHU_1.32958482 1 32958483 [A/G] rs72668543 1 32958483 [A/G] rs12140988 1 32960336 [A/G] JHU_1.32960715 1 32960716 [A/G] rs149645186 1 32963505 [A/G] rs117852616 1 32971781 [T/C] rs12043199 1 32974449 [A/G] exm2251390 1 32975903 [T/G] JHU_1.32976944 1 32976945 [A/G] JHU_1.32978900 1 32978901 [A/G] JHU_1.32979625 1 32979626 [A/G] rs4970534 1 32983219 [A/G] JHU_1.33002065 1 33002066 [T/C] rs75053391 1 33007813 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent JHU_1.33009307 1 33009308 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent JHU_1.33013240 1 33013241 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent JHU_1.33014363 1 33014364 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent rs11588497 1 33030461 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent rs10914577 1 33034876 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent JHU_1.33045223 1 33045224 [T/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent rs72652200 1 33054062 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent rs115415370 1 33056517 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent exm40927 1 33058596 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Missense_V22I,Missense_V22I variant.2251 1 33058707 [T/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Nonsense_E59X,Nonsense_E59X var_1_33059115 1 33059115 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Nonsense_Q195X,Nonsense_Q195X exm1794381 1 33059197 [C/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Missense_T222S,Missense_T222S exm1794382 1 33059200 [A/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Missense_H223P,Missense_H223P exm40957 1 33059343 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Missense_K271E,Missense_K271E 1:33060709-GA 1 33060709 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Missense_R293Q,Missense_R293Q rs6678903 1 33062554 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent JHU_1.33065483 1 33065484 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A Silent,Silent,Silent exm40964 1 33065688 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_I332V 1:33065728-GA 1 33065728 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_R345H 1:33065775-CT 1 33065775 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_R361C exm40969 1 33065830 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_I379T exm40970 1 33065908 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_E405G 1:33065939-TC 1 33065939 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Synonymous_D415D exm40972 1 33065947 [G/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_G418A exm40975 1 33065962 [A/G] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Missense_Q423R JHU_1.33067131 1 33067132 [G/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Silent exm2268875 1 33068754 [T/C] NR_111980,NM_001291496,NM_001040441 ZBTB8A,ZBTB8A,ZBTB8A EXON Silent,Silent,Silent rs77754702 1 33078473 [T/C] JHU_1.33083910 1 33083911 [T/C] rs77340669 1 33084515 [A/G] 1:33084626-T-G 1 33084626 [T/G] rs16835041 1 33085244 [A/G] 1:33091405-A-G 1 33091405 [A/G] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs117790782 1 33093313 [T/C] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75056610 1 33098518 [T/C] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm40987 1 33099564 [T/C] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS EXON Missense_V42I,Missense_V83I,Missense_V21I,Missense_V21I,Missense_V21I,Missense_V21I,Missense_V90I,Missense_V90I,Missense_V83I exm40991 1 33099579 [A/G] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS EXON Missense_L37F,Missense_L78F,Missense_L16F,Missense_L16F,Missense_L16F,Missense_L16F,Missense_L85F,Missense_L85F,Missense_L78F JHU_1.33100592 1 33100593 [T/G] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3954228 1 33100815 [T/C] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs144565846 1 33102835 [A/G] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs143836272 1 33111452 [A/G] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm41007 1 33116103 [A/C] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS EXON Silent,Missense_D22Y,Silent,Silent,Silent,Silent,Missense_D22Y,Missense_D22Y,Missense_D22Y 1:33116135-GA 1 33116135 [A/G] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS EXON Silent,Missense_A11V,Silent,Silent,Silent,Silent,Missense_A11V,Missense_A11V,Missense_A11V chr1_33116148 1 33116148 [A/C] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS EXON Silent,Missense_V7L,Silent,Silent,Silent,Silent,Missense_V7L,Missense_V7L,Missense_V7L indel.2255 1 33116148 [D/I] NM_001330475,NM_001308137,NM_001308138,NM_001308141,NM_001308139,NM_001308140,NM_001308136,NM_178547,NM_001308135 ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS,ZBTB8OS EXON rs389409 1 33116544 [T/C] JHU_1.33124146 1 33124147 [T/G] NM_001135255,NM_005610,NM_001135256 RBBP4,RBBP4,RBBP4 Silent,Silent,Silent rs138948889 1 33127764 [T/C] NM_001135255,NM_005610,NM_001135256 RBBP4,RBBP4,RBBP4 Silent,Silent,Silent rs359955 1 33134774 [A/C] NM_001135255,NM_005610,NM_001135256 RBBP4,RBBP4,RBBP4 Silent,Silent,Silent JHU_1.33137198 1 33137199 [T/C] NM_001135255,NM_005610,NM_001135256 RBBP4,RBBP4,RBBP4 Silent,Silent,Silent exm2233193 1 33149890 [A/G] NM_001135255,NM_005610,NM_001135256,NM_030786,NM_001161708 RBBP4,RBBP4,RBBP4,SYNC,SYNC EXON Silent,Silent,Silent,Missense_L443F,Missense_L443F rs75999698 1 33152172 [A/G] NM_030786,NM_001161708 SYNC,SYNC Silent,Silent variant.2256 1 33160461 [T/C] NM_030786,NM_001161708 SYNC,SYNC Silent,Silent 1:33160505-CA-C 1 33160505 [I/D] NM_030786,NM_001161708 SYNC,SYNC EXON exm41072 1 33160510 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_A397T,Missense_A397T exm41073 1 33160526 [T/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_N391K,Missense_N391K 1:33160552-GA 1 33160552 [A/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_R383W,Missense_R383W chr1_33160566 1 33160566 [A/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_L378P,Missense_L378P 1:33160644-TG 1 33160644 [T/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_E352A,Missense_E352A exm41081 1 33160653 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_R349Q,Missense_R349Q 1:33160687-CT 1 33160687 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_D338N,Missense_D338N exm41089 1 33160878 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_R274Q,Missense_R274Q 1:33160908-TC 1 33160908 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_Q264R,Missense_Q264R exm41092 1 33160912 [A/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_R263C,Missense_R263C exm41095 1 33161113 [A/G] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_L196F,Missense_L196F exm41098 1 33161212 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_M163V,Missense_M163V 1:33161260-CT 1 33161260 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_E147K,Missense_E147K 1:33161283-TC 1 33161283 [T/C] NM_030786,NM_001161708 SYNC,SYNC EXON Missense_E139G,Missense_E139G rs657887 1 33163352 [A/T] NM_030786,NM_001161708 SYNC,SYNC Silent,Silent rs419145 1 33179156 [A/G] rs359952 1 33187046 [T/C] rs116414037 1 33190697 [T/C] JHU_1.33193624 1 33193625 [T/C] JHU_1.33196119 1 33196120 [A/G] JHU_1.33197352 1 33197353 [T/C] 1:33203461-T-C 1 33203461 [T/C] 1:33207752-CA 1 33207752 [A/C] NM_020888 KIAA1522 EXON Missense_A66E rs644879 1 33215380 [T/C] NM_020888 KIAA1522 Silent rs77786088 1 33223737 [A/G] NM_020888 KIAA1522 Silent rs72874643 1 33226683 [C/G] NM_020888 KIAA1522 Silent rs61798840 1 33227593 [A/T] NM_020888 KIAA1522 Silent JHU_1.33227610 1 33227611 [A/G] NM_020888 KIAA1522 Silent rs117559981 1 33229612 [T/C] NM_020888 KIAA1522 Silent rs59245647 1 33229962 [A/G] NM_020888 KIAA1522 Silent rs61798842 1 33230531 [C/G] NM_020888 KIAA1522 Silent 1:33231380-TG 1 33231380 [T/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Silent,Missense_F4V,Missense_F4V 1:33231419-TAAG-T 1 33231419 [I/D] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON rs72654014 1 33232375 [T/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 Silent,Silent,Silent 1:33233496-CT 1 33233496 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P115L,Missense_P56L,Missense_P56L exm41120 1 33233498 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P116S,Missense_P57S,Missense_P57S exm41129 1 33234254 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_S155F,Missense_S96F,Missense_S96F exm41134 1 33234293 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_C168Y,Missense_C109Y,Missense_C109Y exm1794649 1 33234307 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_S173P,Missense_S114P,Missense_S114P exm41137 1 33234352 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R188C,Missense_R129C,Missense_R129C exm2273629 1 33234353 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R188H,Missense_R129H,Missense_R129H 1:33235334-GA 1 33235334 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R216Q,Silent,Missense_R157Q exm41145 1 33235364 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P226L,Silent,Missense_P167L exm41146 1 33235371 [A/T] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_H228Q,Silent,Missense_H169Q 1:33235378-AG 1 33235378 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_K231E,Silent,Missense_K172E exm41149 1 33235495 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R239C,Silent,Missense_R180C exm41157 1 33235651 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_M291V,Silent,Missense_M232V exm41158 1 33235660 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R294C,Silent,Missense_R235C exm41162 1 33235709 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_T310M,Silent,Missense_T251M 1:33235891-CT 1 33235891 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R371C,Silent,Missense_R312C 1:33235999-CT 1 33235999 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R407C,Silent,Missense_R348C exm41194 1 33236255 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R492H,Silent,Missense_R433H exm1794682 1 33236285 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R502H,Silent,Missense_R443H exm41204 1 33236483 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R568Q,Silent,Missense_R509Q 1:33236584-CT 1 33236584 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P602S,Silent,Missense_P543S exm41212 1 33236624 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R615H,Silent,Missense_R556H exm41221 1 33236845 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_A689T,Silent,Missense_A630T 1:33237001-CT 1 33237001 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P741S,Silent,Missense_P682S 1:33237092-CT 1 33237092 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P771L,Silent,Missense_P712L exm41231 1 33237266 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P829L,Silent,Missense_P770L Variant37841 1 33237269 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P830L,Silent,Missense_P771L exm41237 1 33237346 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P856S,Silent,Missense_P797S exm41239 1 33237358 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P860S,Silent,Missense_P801S 1:33237607-GA 1 33237607 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_A943T,Silent,Missense_A884T exm41251 1 33237659 [G/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P960R,Silent,Missense_P901R 1:33237686-CT 1 33237686 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_T969M,Silent,Missense_T910M 1:33237859-CT 1 33237859 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R1027C,Silent,Missense_R968C 1:33237860-GA 1 33237860 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R1027H,Silent,Missense_R968H 1:33237980-CT 1 33237980 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_A1067V,Silent,Missense_A1008V rs77783333 1 33239640 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Silent,Silent,Silent rs16866009 1 33241289 [T/C] NM_003680 YARS EXON Silent exm41278 1 33245024 [T/C] NM_003680 YARS EXON Missense_E479K exm1794719 1 33245687 [T/C] NM_003680 YARS EXON Missense_I445V exm41283 1 33245729 [A/T] NM_003680 YARS EXON Missense_M431L 1:33245774-GT 1 33245774 [T/G] NM_003680 YARS EXON Missense_Q416K exm41286 1 33245792 [T/C] NM_003680 YARS EXON Missense_V410M exm41297 1 33248032 [T/C] NM_003680 YARS EXON Missense_A339T rs138350698 1 33248171 [A/T] NM_003680 YARS Silent 1:33252046-AG 1 33252046 [A/G] NM_003680 YARS EXON Missense_F275L rs149756101 1 33252174 [T/C] NM_003680 YARS Silent Variant48242 1 33252541 [T/C] NM_003680 YARS EXON Missense_E274K rs786205442 1 33252572 [T/G] NM_003680 YARS EXON Missense_F263L rs1765223 1 33256884 [A/C] NM_003680 YARS Silent rs10914614 1 33257919 [A/G] NM_003680 YARS Silent JHU_1.33259329 1 33259330 [A/G] NM_003680 YARS Silent rs115663825 1 33261536 [A/G] NM_003680 YARS Silent JHU_1.33262651 1 33262652 [T/G] NM_003680 YARS Silent rs201272488 1 33272073 [G/C] NM_003680 YARS Silent rs10798918 1 33275981 [T/C] NM_003680 YARS Silent rs180736984 1 33276575 [T/G] NM_003680 YARS EXON Missense_K47N variant.2264 1 33276660 [T/C] NM_003680 YARS Silent JHU_1.33282519 1 33282520 [C/G] NM_003680 YARS Silent rs141956913 1 33283745 [T/C] NM_001256121,NM_022753 S100PBP,S100PBP Silent,Silent rs57377769 1 33291241 [T/C] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP Silent,Silent,Silent,Silent 1:33291832-GAGA-G 1 33291832 [I/D] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON exm41354 1 33291942 [T/C] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_V81A,Missense_V81A,Silent,Silent exm41355 1 33291987 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_R96Q,Missense_R96Q,Silent,Silent exm41357 1 33292008 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_S103N,Missense_S103N,Silent,Silent exm41358 1 33292014 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_G105E,Missense_G105E,Silent,Silent 1:33292044-AG 1 33292044 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_K115R,Missense_K115R,Silent,Silent exm1794965 1 33292050 [G/C] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_P117R,Missense_P117R,Silent,Silent 1:33292106-CT 1 33292106 [T/C] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_R136C,Missense_R136C,Silent,Silent exm41376 1 33292442 [T/C] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_P248S,Missense_P248S,Silent,Silent 1:33293645-CA 1 33293645 [A/C] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_L295I,Missense_L295I,Silent,Silent rs75944612 1 33294427 [T/C] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP Silent,Silent,Silent,Silent exm41389 1 33295603 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_Q320R,Missense_Q320R,Silent,Silent exm41391 1 33295664 [C/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP EXON Missense_N340K,Missense_N340K,Silent,Silent rs10914625 1 33298822 [T/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP Silent,Silent,Silent,Silent rs137975246 1 33301686 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP Silent,Silent,Silent,Silent JHU_1.33302779 1 33302780 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP Silent,Silent,Silent,Silent rs146790751 1 33303290 [G/C] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP Silent,Silent,Silent,Silent JHU_1.33307942 1 33307943 [A/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP Silent,Silent,Silent,Silent rs11580896 1 33318163 [T/G] NM_001256121,NM_022753,NR_135107,NR_135106 S100PBP,S100PBP,S100PBP,S100PBP Silent,Silent,Silent,Silent exm1795106 1 33330302 [A/G] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Silent,Missense_T124I,Missense_T199I exm41406 1 33330344 [T/C] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Silent,Missense_N110S,Missense_N185S exm41407 1 33330377 [T/C] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Missense_R174H,Missense_R99H,Missense_R174H rs12074852 1 33331672 [T/C] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 Silent,Silent,Silent exm41410 1 33333378 [T/C] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Missense_V159I,Missense_V84I,Missense_V159I exm41413 1 33333401 [T/C] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Missense_R151Q,Missense_R76Q,Missense_R151Q exm41420 1 33333953 [T/C] NM_001171940,NM_001171941,NM_153756 FNDC5,FNDC5,FNDC5 EXON Missense_V83M,Missense_V8M,Missense_V83M rs141989745 1 33347848 [A/G] JHU_1.33348343 1 33348344 [A/G] exm2264818 1 33348442 [A/G] rs117304911 1 33349573 [A/C] rs78279161 1 33349978 [C/G] rs11811702 1 33350183 [A/G] 1:33353464-T-C 1 33353464 [T/C] NM_002143 HPCA Silent rs1284372 1 33355223 [G/C] NM_002143 HPCA Silent variant.2267 1 33359230 [A/G] NM_002143 HPCA EXON Missense_G162S rs185706490 1 33359262 [C/G] NM_002143 HPCA Silent 1:33359380-GT 1 33359380 [T/G] NM_002143 HPCA EXON Nonsense_E167X 1:33359395-GT 1 33359395 [T/G] NM_002143 HPCA EXON Missense_G172W 1:33359398-GA 1 33359398 [A/G] NM_002143 HPCA EXON Missense_A173T 1:33359423-GA 1 33359423 [A/G] NM_002143 HPCA EXON Missense_R181H 1:33359449-GA 1 33359449 [A/G] NM_002143 HPCA EXON Missense_A190T rs1053542 1 33360234 [T/C] NM_002143,NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 HPCA,TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Silent,Silent,Silent,Silent,Silent,Silent exm41441 1 33360429 [A/T] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_S163C,Missense_S183C,Missense_S234C,Missense_S196C,Missense_S216C 1:33360974-GA 1 33360974 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_R123C,Missense_R143C,Missense_R176C,Missense_R156C,Missense_R176C exm41456 1 33361013 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_A110T,Missense_A130T,Missense_A163T,Missense_A143T,Missense_A163T exm2233203 1 33361163 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_R98H,Missense_R118H,Missense_R151H,Missense_R131H,Missense_R151H exm41459 1 33361173 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_D95N,Missense_D115N,Missense_D148N,Missense_D128N,Missense_D148N Variant12358 1 33361216 [I/D] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON 1:33361226-GA 1 33361226 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_A77V,Missense_A97V,Missense_A130V,Missense_A110V,Missense_A130V 1:33361246-CT 1 33361246 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Silent,Silent,Synonymous_Q123Q,Synonymous_Q103Q,Synonymous_Q123Q 1:33361266-CT 1 33361266 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Silent,Silent,Missense_A117T,Missense_A97T,Missense_A117T exm41463 1 33361277 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Silent,Silent,Missense_L113S,Missense_L93S,Missense_L113S exm41465 1 33361287 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Silent,Silent,Missense_L110F,Missense_L90F,Missense_L110F exm41466 1 33361344 [G/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Silent,Silent,Missense_R91G,Missense_R71G,Missense_R91G exm41474 1 33361552 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Silent,Missense_A77T,Missense_A77T,Silent,Missense_A77T exm41476 1 33363734 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_A68V,Missense_A68V,Missense_A68V,Missense_A68V,Missense_A68V 1:33363782-GA 1 33363782 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_A52V,Missense_A52V,Missense_A52V,Missense_A52V,Missense_A52V exm41481 1 33363801 [T/C] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_V46M,Missense_V46M,Missense_V46M,Missense_V46M,Missense_V46M chr1_33363836 1 33363836 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_T34I,Missense_T34I,Missense_T34I,Missense_T34I,Missense_T34I 1:33363897-GA 1 33363897 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 EXON Missense_R14W,Missense_R14W,Missense_R14W,Missense_R14W,Missense_R14W JHU_1.33364345 1 33364346 [A/G] NM_001329725,NM_001329724,NM_001329722,NM_001329723,NM_033504 TMEM54,TMEM54,TMEM54,TMEM54,TMEM54 Silent,Silent,Silent,Silent,Silent rs139270791 1 33387085 [A/G] rs72654069 1 33394724 [T/C] JHU_1.33394723 1 33394724 [T/C] rs184889426 1 33398638 [G/C] rs116249547 1 33398690 [A/G] JHU_1.33398857 1 33398858 [T/A] rs8040 1 33402172 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Silent,Silent,Silent indel.2276 1 33402442 [D/I] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON 1:33402454-CT 1 33402454 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Silent,Missense_E718K,Missense_E717K 1:33402492-GA 1 33402492 [A/G] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Silent,Missense_P705L,Missense_P704L exm41496 1 33402504 [A/G] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Silent,Missense_A701V,Missense_A700V chr1_33402768 1 33402768 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Silent,Missense_H613R,Missense_H612R rs194640 1 33403481 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B Silent,Silent,Silent rs7526061 1 33405318 [A/G] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B Silent,Silent,Silent exm41518 1 33407887 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Missense_G526S,Missense_G527S,Missense_G526S rs1149128 1 33408138 [T/G] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B Silent,Silent,Silent rs194644 1 33409551 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B Silent,Silent,Silent exm41528 1 33411175 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Missense_I401V,Missense_I402V,Missense_I401V exm41529 1 33411194 [T/G] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Missense_K394N,Missense_K395N,Missense_K394N JHU_1.33411774 1 33411775 [C/G] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B Silent,Silent,Silent rs144040326 1 33414040 [A/G] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B Silent,Silent,Silent chr1_33415175 1 33415175 [A/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Missense_G279V,Missense_G279V,Missense_G279V 1:33415199-CA 1 33415199 [A/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Missense_G271V,Missense_G271V,Missense_G271V rs79495101 1 33426882 [T/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B Silent,Silent,Silent 1:33429847-CA 1 33429847 [A/C] NM_001127361,NM_153341,NM_001300826 RNF19B,RNF19B,RNF19B EXON Missense_R147L,Missense_R147L,Missense_R147L JHU_1.33432727 1 33432728 [A/G] JHU_1.33433103 1 33433104 [A/G] rs145467916 1 33442578 [T/G] rs735402 1 33443064 [T/C] JHU_1.33449952 1 33449953 [T/C] JHU_1.33451665 1 33451666 [A/G] JHU_1.33451805 1 33451806 [A/G] JHU_1.33452926 1 33452927 [A/G] JHU_1.33453018 1 33453019 [A/G] rs11581686 1 33455486 [T/C] rs1293564 1 33459385 [T/C] rs116667924 1 33463081 [A/C] JHU_1.33465199 1 33465200 [T/C] rs77813435 1 33466694 [A/G] 1:33470730-A-G 1 33470730 [A/G] rs1534893 1 33472942 [A/G] rs115296262 1 33473048 [T/G] JHU_1.33475813 1 33475814 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139 AK2,AK2,AK2,AK2,AK2,AK2 EXON Silent,Silent,Silent,Silent,Silent,Silent JHU_1.33475894 1 33475895 [T/G] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139 AK2,AK2,AK2,AK2,AK2,AK2 EXON Silent,Silent,Silent,Silent,Silent,Silent rs114140319 1 33478602 [A/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.2280 1 33478803 [T/G] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_K185N,Missense_K233N,Silent 1:33478834-AG 1 33478834 [A/G] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_I223T,Silent,Missense_I215T,Missense_I181T,Missense_I223T,Missense_I175T,Missense_I175T,Missense_I223T,Silent exm41567 1 33478841 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_A221T,Silent,Missense_A213T,Missense_A179T,Missense_A221T,Missense_A173T,Missense_A173T,Missense_A221T,Silent 1:33478877-CT 1 33478877 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_A209T,Silent,Missense_A201T,Missense_A167T,Missense_A209T,Missense_A161T,Missense_A161T,Missense_A209T,Silent var_1_33479005 1 33479005 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent Variant48244 1 33480122 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs149227118 1 33480172 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_R150H,Silent,Missense_R142H,Missense_R108H,Missense_R150H,Missense_R102H,Missense_R102H,Missense_R150H,Synonymous_P118P rs75221737 1 33482864 [A/G] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm41604 1 33487007 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_S129N,Silent,Missense_S129N,Missense_S87N,Missense_S129N,Missense_S81N,Missense_S81N,Missense_S129N,Silent exm41606 1 33487277 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_I83V,Silent,Missense_I83V,Missense_I41V,Missense_I83V,Missense_I35V,Missense_I35V,Missense_I83V,Missense_I83V 1:33487295-CT 1 33487295 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_E77K,Silent,Missense_E77K,Missense_E35K,Missense_E77K,Missense_E29K,Missense_E29K,Missense_E77K,Missense_E77K exm41608 1 33487300 [A/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_S75I,Silent,Missense_S75I,Missense_S33I,Missense_S75I,Missense_S27I,Missense_S27I,Missense_S75I,Missense_S75I chr1_33490060 1 33490060 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_M68V,Silent,Missense_M68V,Silent,Missense_M68V,Missense_M20V,Missense_M20V,Missense_M68V,Missense_M68V rs143008602 1 33493489 [A/G] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79284554 1 33496632 [A/G] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10753271 1 33496639 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79746713 1 33499319 [A/G] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:33502345-CT 1 33502345 [T/C] NM_013411,NR_134976,NM_001199199,NM_001319142,NM_001319141,NM_001319139,NM_001319140,NM_001625,NM_001319143 AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2,AK2 EXON Missense_G29R,Silent,Missense_G29R,Missense_G29R,Missense_G29R,Silent,Silent,Missense_G29R,Missense_G29R rs145129562 1 33510245 [A/G] JHU_1.33512627 1 33512628 [A/G] rs56887557 1 33513190 [A/G] rs28367365 1 33516517 [T/C] 1:33522277-T-A 1 33522277 [T/A] rs146899921 1 33522589 [T/G] rs141807614 1 33526956 [G/C] rs11811191 1 33536944 [T/C] rs79758768 1 33539236 [T/G] rs150298309 1 33539876 [T/C] rs3863724 1 33540443 [A/G] rs202115846 1 33547864 [T/A] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Silent,Silent,Missense_L5Q,Silent,Missense_L5Q,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_L5Q,Missense_L5Q exm41623 1 33547930 [C/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Silent,Silent,Missense_T27S,Silent,Missense_T27S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T27S,Missense_T27S rs41265881 1 33548136 [T/A] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:33549535-AG 1 33549535 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:33549595-TC 1 33549595 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Silent,Silent,Missense_I49T,Silent,Missense_I49T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I49T,Missense_I49T 1:33557705-GA 1 33557705 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_A17T,Missense_A17T,Missense_A112T,Silent,Missense_A112T,Missense_A17T,Missense_A17T,Silent,Missense_A17T,Missense_A17T,Silent,Silent,Missense_A112T,Missense_A112T exm41642 1 33557731 [G/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_Q25H,Missense_Q25H,Missense_Q120H,Silent,Missense_Q120H,Missense_Q25H,Missense_Q25H,Silent,Missense_Q25H,Missense_Q25H,Silent,Silent,Missense_Q120H,Missense_Q120H exm41643 1 33557813 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_P53S,Missense_P53S,Missense_P148S,Silent,Missense_P148S,Missense_P53S,Missense_P53S,Silent,Missense_P53S,Missense_P53S,Silent,Silent,Missense_P148S,Missense_P148S 1:33558940-GT 1 33558940 [T/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_K75N,Missense_K75N,Missense_K170N,Silent,Missense_K170N,Missense_K75N,Missense_K75N,Silent,Missense_K75N,Missense_K75N,Silent,Missense_K19N,Missense_K170N,Missense_K170N exm41647 1 33558992 [A/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_H93N,Missense_H93N,Missense_H188N,Silent,Missense_H188N,Missense_H93N,Missense_H93N,Silent,Missense_H93N,Missense_H93N,Silent,Missense_H37N,Missense_H188N,Missense_H188N exm41648 1 33558996 [A/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_H94P,Missense_H94P,Missense_H189P,Silent,Missense_H189P,Missense_H94P,Missense_H94P,Silent,Missense_H94P,Missense_H94P,Silent,Missense_H38P,Missense_H189P,Missense_H189P rs145566910 1 33558996 [A/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_H94P,Missense_H94P,Missense_H189P,Silent,Missense_H189P,Missense_H94P,Missense_H94P,Silent,Missense_H94P,Missense_H94P,Silent,Missense_H38P,Missense_H189P,Missense_H189P rs141134478 1 33560216 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_V124M,Missense_V124M,Missense_V219M,Silent,Missense_V219M,Missense_V124M,Missense_V124M,Silent,Missense_V124M,Missense_V124M,Silent,Missense_V68M,Missense_V219M,Missense_V219M exm41660 1 33560234 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_E130K,Missense_E130K,Missense_E225K,Silent,Missense_E225K,Missense_E130K,Missense_E130K,Silent,Missense_E130K,Missense_E130K,Silent,Missense_E74K,Missense_E225K,Missense_E225K exm41661 1 33560247 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_K134R,Missense_K134R,Missense_K229R,Silent,Missense_K229R,Missense_K134R,Missense_K134R,Silent,Missense_K134R,Missense_K134R,Silent,Missense_K78R,Missense_K229R,Missense_K229R exm41664 1 33560294 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_A150T,Missense_A150T,Missense_A245T,Silent,Missense_A245T,Missense_A150T,Missense_A150T,Silent,Missense_A150T,Missense_A150T,Silent,Missense_A94T,Missense_A245T,Missense_A245T rs114606570 1 33560554 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs145723160 1 33562312 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_A158V,Missense_A158V,Missense_A253V,Silent,Missense_A253V,Missense_A158V,Missense_A158V,Silent,Missense_A158V,Missense_A158V,Silent,Missense_A102V,Missense_A253V,Missense_A253V exm41667 1 33562312 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_A158V,Missense_A158V,Missense_A253V,Silent,Missense_A253V,Missense_A158V,Missense_A158V,Silent,Missense_A158V,Missense_A158V,Silent,Missense_A102V,Missense_A253V,Missense_A253V rs16835244 1 33562416 [T/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_A193S,Missense_A193S,Missense_A288S,Silent,Missense_A288S,Missense_A193S,Missense_A193S,Silent,Missense_A193S,Missense_A193S,Silent,Missense_A137S,Missense_A288S,Missense_A288S exm41676 1 33562416 [T/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_A193S,Missense_A193S,Missense_A288S,Silent,Missense_A288S,Missense_A193S,Missense_A193S,Silent,Missense_A193S,Missense_A193S,Silent,Missense_A137S,Missense_A288S,Missense_A288S exm41678 1 33562469 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Synonymous_E210E,Synonymous_E210E,Synonymous_E305E,Silent,Synonymous_E305E,Synonymous_E210E,Synonymous_E210E,Silent,Synonymous_E210E,Synonymous_E210E,Silent,Synonymous_E154E,Synonymous_E305E,Synonymous_E305E rs116816142 1 33562750 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs150169064 1 33563718 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_V228M,Missense_V228M,Missense_V323M,Silent,Missense_V323M,Missense_V228M,Missense_V228M,Silent,Missense_V228M,Missense_V228M,Silent,Missense_V172M,Missense_V323M,Missense_V343M exm41683 1 33563718 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_V228M,Missense_V228M,Missense_V323M,Silent,Missense_V323M,Missense_V228M,Missense_V228M,Silent,Missense_V228M,Missense_V228M,Silent,Missense_V172M,Missense_V323M,Missense_V343M 1:33563746-TC 1 33563746 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_F237S,Missense_F237S,Missense_F332S,Silent,Missense_F332S,Missense_F237S,Missense_F237S,Silent,Missense_F237S,Missense_F237S,Silent,Missense_F181S,Missense_F332S,Missense_F352S JHU_1.33567114 1 33567115 [T/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:33567447-CT 1 33567447 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NR_126031,NM_001350402,NM_001301826,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S348L,Silent rs142689906 1 33567517 [T/A] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.33569862 1 33569863 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs180776122 1 33580791 [A/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs145862219 1 33583572 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_V272M,Missense_V272M,Missense_V367M,Silent,Missense_V367M,Missense_V272M,Missense_V272M,Silent,Missense_V272M,Missense_V272M,Missense_V216M,Missense_V387M exm41693 1 33583572 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_V272M,Missense_V272M,Missense_V367M,Silent,Missense_V367M,Missense_V272M,Missense_V272M,Silent,Missense_V272M,Missense_V272M,Missense_V216M,Missense_V387M 1:33583584-CCTGTGG-C 1 33583584 [I/D] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON exm41696 1 33583621 [T/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_V288G,Missense_V288G,Missense_V383G,Silent,Missense_V383G,Missense_V288G,Missense_V288G,Silent,Missense_V288G,Missense_V288G,Missense_V232G,Missense_V403G exm41697 1 33583633 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_M292T,Missense_M292T,Missense_M387T,Silent,Missense_M387T,Missense_M292T,Missense_M292T,Silent,Missense_M292T,Missense_M292T,Missense_M236T,Missense_M407T 1:33583707-CT 1 33583707 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_R317W,Missense_R317W,Missense_R412W,Silent,Missense_R412W,Missense_R317W,Missense_R317W,Silent,Missense_R317W,Missense_R317W,Missense_R261W,Missense_R432W exm41708 1 33585671 [T/C] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_A329V,Missense_A329V,Missense_A424V,Silent,Missense_A424V,Missense_A329V,Missense_A329V,Silent,Missense_A329V,Missense_A329V,Missense_A273V,Missense_A444V chr1_33585680 1 33585680 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_Q332R,Missense_Q332R,Missense_Q427R,Silent,Missense_Q427R,Missense_Q332R,Missense_Q332R,Silent,Missense_Q332R,Missense_Q332R,Missense_Q276R,Missense_Q447R exm41711 1 33585691 [A/G] NM_001350400,NM_001350398,NM_052998,NR_146649,NM_001293562,NM_001350401,NM_001301823,NR_146648,NM_001350399,NM_001301824,NM_001350402,NM_001301825 AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2,AZIN2 EXON Missense_V336M,Missense_V336M,Missense_V431M,Silent,Missense_V431M,Missense_V336M,Missense_V336M,Silent,Missense_V336M,Missense_V336M,Missense_V280M,Missense_V451M JHU_1.33590846 1 33590847 [T/C] 1:33594110-A-G 1 33594110 [A/G] rs79972409 1 33599038 [T/C] rs116240362 1 33600006 [T/C] rs679512 1 33600569 [A/G] rs189001758 1 33610071 [A/G] rs2936005 1 33610468 [A/G] JHU_1.33611183 1 33611184 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Silent,Silent rs689187 1 33611890 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Silent,Silent rs3766813 1 33612508 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Silent,Silent exm41720 1 33612789 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_V473I,Missense_V352I exm41721 1 33612800 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R469Q,Missense_R348Q exm41722 1 33612827 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_A460V,Missense_A339V 1:33612879-CT 1 33612879 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_E443K,Missense_E322K exm41735 1 33613055 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R384H,Missense_R263H 1:33613091-GT 1 33613091 [T/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_A372E,Missense_A251E 1:33613092-CT 1 33613092 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_A372T,Missense_A251T chr1_33613190 1 33613190 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_S339L,Missense_S218L exm2251412 1 33613249 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Synonymous_Y319Y,Synonymous_Y198Y rs3912145 1 33614162 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 Silent,Silent rs116120304 1 33615600 [T/G] NM_018207,NM_001330483 TRIM62,TRIM62 Silent,Silent JHU_1.33616708 1 33616709 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 Silent,Silent rs75157285 1 33618898 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 Silent,Silent exm41755 1 33625328 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R241Q,Missense_R120Q exm41756 1 33625329 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R241W,Missense_R120W exm41757 1 33625332 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_D240N,Missense_D119N exm41758 1 33625344 [T/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_L236M,Missense_L115M 1:33625433-CT 1 33625433 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R206H,Missense_R85H exm41764 1 33625445 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_A202V,Missense_A81V exm41766 1 33625490 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R187Q,Missense_R66Q exm41768 1 33625515 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_G179S,Missense_G58S exm2251414 1 33631087 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Synonymous_Q163Q,Synonymous_Q42Q 1:33631122-CT 1 33631122 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_E152K,Missense_E31K exm41773 1 33631124 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Missense_R151Q,Missense_R30Q rs76462007 1 33633476 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 Silent,Silent JHU_1.33636527 1 33636528 [T/C] NM_018207,NM_001330483 TRIM62,TRIM62 Silent,Silent JHU_1.33640505 1 33640506 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 Silent,Silent rs604941 1 33641932 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 Silent,Silent Variant37843 1 33642017 [A/G] NM_018207,NM_001330483 TRIM62,TRIM62 EXON Silent,Nonsense_Q13X rs190905767 1 33642423 [T/C] NM_018207 TRIM62 Silent rs16835286 1 33642788 [T/C] NM_018207 TRIM62 Silent JHU_1.33645809 1 33645810 [A/G] NM_018207 TRIM62 Silent 1:33646686-CA 1 33646686 [A/C] NM_018207 TRIM62 EXON Missense_E116D 1:33646993-CA 1 33646993 [A/C] NM_018207 TRIM62 EXON Missense_C14F rs75511059 1 33650039 [T/C] JHU_1.33652424 1 33652425 [A/T] JHU_1.33657708 1 33657709 [A/G] JHU_1.33657865 1 33657866 [C/G] JHU_1.33659068 1 33659069 [T/A] rs72656253 1 33659069 [T/A] JHU_1.33659769 1 33659770 [T/C] rs117087360 1 33664436 [A/G] JHU_1.33681304 1 33681305 [T/C] rs1498319 1 33684101 [T/C] rs75485636 1 33685383 [A/G] rs1391522 1 33686796 [T/C] rs76794407 1 33687076 [G/C] rs139061585 1 33689721 [A/G] rs12045968 1 33690698 [T/G] rs116689701 1 33690886 [A/G] rs12094604 1 33694714 [A/G] rs7540951 1 33694810 [T/C] JHU_1.33695289 1 33695290 [A/C] rs937429 1 33700650 [T/C] JHU_1.33704075 1 33704076 [A/G] JHU_1.33706691 1 33706692 [C/G] rs7534724 1 33710429 [A/G] JHU_1.33714607 1 33714608 [A/G] JHU_1.33716496 1 33716497 [A/G] rs1566230 1 33719642 [T/C] JHU_1.33720235 1 33720236 [A/G] JHU_1.33721260 1 33721261 [G/C] rs56918669 1 33723031 [T/C] NM_152493 ZNF362 Silent rs10914671 1 33723652 [T/C] NM_152493 ZNF362 Silent JHU_1.33723965 1 33723966 [G/C] NM_152493 ZNF362 Silent JHU_1.33726028 1 33726029 [T/A] NM_152493 ZNF362 Silent JHU_1.33727897 1 33727898 [T/C] NM_152493 ZNF362 Silent rs4303045 1 33731152 [A/C] NM_152493 ZNF362 Silent rs72889809 1 33735988 [A/G] NM_152493 ZNF362 Silent rs6425814 1 33740818 [A/C] NM_152493 ZNF362 Silent JHU_1.33742491 1 33742492 [C/G] NM_152493 ZNF362 Silent rs66950716 1 33743159 [A/C] NM_152493 ZNF362 Silent JHU_1.33745091 1 33745092 [A/T] NM_152493 ZNF362 Silent rs111271822 1 33745678 [G/C] NM_152493 ZNF362 Silent exm41812 1 33745937 [G/C] NM_152493 ZNF362 EXON Missense_P188A rs147619571 1 33748879 [T/C] NM_152493 ZNF362 Silent rs10914677 1 33749027 [A/G] NM_152493 ZNF362 Silent rs148174301 1 33749400 [T/G] NM_152493 ZNF362 Silent JHU_1.33751257 1 33751258 [A/G] NM_152493 ZNF362 Silent JHU_1.33758982 1 33758983 [T/C] NM_152493 ZNF362 Silent 1:33760555-GA 1 33760555 [A/G] NM_152493 ZNF362 EXON Missense_R309K 1:33760820-GA 1 33760820 [A/G] NM_152493 ZNF362 EXON Missense_A354T exm41834 1 33764585 [A/G] NM_152493 ZNF362 EXON Missense_S401G exm41836 1 33764618 [A/G] NM_152493 ZNF362 EXON Missense_G412S rs57058685 1 33766791 [T/C] rs61799545 1 33770515 [A/G] rs4653002 1 33770526 [T/C] rs114577943 1 33771687 [G/C] 1:33772438-CT 1 33772438 [T/C] NM_001080438 A3GALT2 EXON Missense_G318S 1:33772511-GT 1 33772511 [T/G] NM_001080438 A3GALT2 EXON Missense_H293Q 1:33772773-CT 1 33772773 [T/C] NM_001080438 A3GALT2 EXON Missense_G206D 1:33772786-GA 1 33772786 [A/G] NM_001080438 A3GALT2 EXON Nonsense_Q202X 1:33772789-CA 1 33772789 [A/C] NM_001080438 A3GALT2 EXON Missense_D201Y 1:33772792-CT 1 33772792 [T/C] NM_001080438 A3GALT2 EXON Missense_V200M JHU_1.33772798 1 33772799 [T/G] NM_001080438 A3GALT2 EXON Nonsense_C197X Variant37844 1 33772799 [T/G] NM_001080438 A3GALT2 EXON Nonsense_C197X 1:33772804-AG 1 33772804 [A/G] NM_001080438 A3GALT2 EXON Missense_F196L 1:33772833-CT 1 33772833 [T/C] NM_001080438 A3GALT2 EXON Missense_G186E 1:33773009-CA 1 33773009 [A/C] NM_001080438 A3GALT2 EXON Missense_Q127H JHU_1.33773015 1 33773016 [A/G] NM_001080438 A3GALT2 EXON Missense_A125V rs4653015 1 33776431 [T/C] NM_001080438 A3GALT2 Silent rs72889862 1 33777257 [A/G] NM_001080438 A3GALT2 Silent Variant12359 1 33777670 [I/D] NM_001080438 A3GALT2 EXON 1:33777726-CT 1 33777726 [T/C] NM_001080438 A3GALT2 EXON Missense_D88N 1:33777753-CT 1 33777753 [T/C] NM_001080438 A3GALT2 EXON Missense_A79T 1:33778143-CT 1 33778143 [T/C] NM_001080438 A3GALT2 EXON Missense_M52I 1:33778178-GA 1 33778178 [A/G] NM_001080438 A3GALT2 EXON Missense_L41F 1:33778468-CT 1 33778468 [T/C] NM_001080438 A3GALT2 EXON Missense_R16Q rs7542777 1 33788884 [A/G] rs7264 1 33789382 [T/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 EXON Silent,Silent,Silent 1:33794528-TC 1 33794528 [T/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 EXON Missense_S789G,Missense_S761G,Missense_S254G variant.2294 1 33794530 [A/G] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 EXON Missense_P788L,Missense_P760L,Missense_P253L exm41909 1 33794564 [A/G] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 EXON Missense_R777W,Missense_R749W,Missense_R242W rs16835363 1 33795053 [T/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 Silent,Silent,Silent 1:33795719-CT 1 33795719 [T/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 EXON Missense_A700T,Missense_A672T,Missense_A165T exm2251422 1 33796081 [A/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 Silent,Silent,Silent rs4361958 1 33796554 [A/G] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 Silent,Silent,Silent 1:33797001-CA 1 33797001 [A/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 EXON Missense_A651S,Missense_A623S,Missense_A116S exm41947 1 33799858 [A/G] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 EXON Missense_L531F,Missense_L503F,Silent rs41265893 1 33800684 [T/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 Silent,Silent,Silent rs189479868 1 33802784 [T/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 Silent,Silent,Silent rs146950669 1 33808353 [A/G] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 Silent,Silent,Silent JHU_1.33808656 1 33808657 [T/C] NM_198040,NM_001330488,NM_004427 PHC2,PHC2,PHC2 Silent,Silent,Silent rs191149460 1 33816200 [C/G] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 Silent,Silent,Silent rs138667391 1 33816345 [A/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 Silent,Silent,Silent rs4233199 1 33819562 [T/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 Silent,Silent,Silent exm41954 1 33820016 [A/G] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_P514L,Missense_P486L,Silent 1:33820101-GA 1 33820101 [A/G] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_R486W,Missense_R458W,Silent exm41964 1 33820134 [T/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_V475M,Missense_V447M,Silent exm41965 1 33820146 [T/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_D471N,Missense_D443N,Silent exm41968 1 33820513 [T/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_V440M,Missense_V411M,Silent exm41977 1 33820632 [A/G] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_P400L,Missense_P371L,Silent exm41979 1 33820731 [T/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON Missense_R367Q,Missense_R338Q,Silent 1:33820767-T-TGGGGG 1 33820767 [D/I] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 EXON rs115933821 1 33827995 [A/G] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 Silent,Silent,Silent JHU_1.33828369 1 33828370 [T/C] NM_198040,NM_001330488,NR_125978 PHC2,PHC2,LOC101929464 Silent,Silent,Silent JHU_1.33830022 1 33830023 [A/G] NM_198040,NM_001330488 PHC2,PHC2 Silent,Silent rs145617747 1 33830884 [A/G] NM_198040,NM_001330488 PHC2,PHC2 Silent,Silent JHU_1.33831472 1 33831473 [T/C] NM_198040,NM_001330488 PHC2,PHC2 Silent,Silent exm41998 1 33832782 [A/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_M304T,Missense_M275T exm41999 1 33832798 [T/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_S299R,Missense_S270R exm42006 1 33832933 [A/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_P254S,Missense_P225S exm42007 1 33832941 [A/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_A251V,Missense_A222V JHU_1.33833171 1 33833172 [G/C] NM_198040,NM_001330488 PHC2,PHC2 Silent,Silent JHU_1.33833945 1 33833946 [T/C] NM_198040,NM_001330488 PHC2,PHC2 Silent,Silent JHU_1.33834415 1 33834416 [T/C] NM_198040,NM_001330488 PHC2,PHC2 Silent,Silent exm42016 1 33836164 [A/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_A145V,Missense_A145V JHU_1.33838191 1 33838192 [A/C] NM_198040,NM_001330488 PHC2,PHC2 Silent,Silent rs10914693 1 33840795 [T/G] NM_198040,NM_001330488 PHC2,PHC2 Silent,Silent 1:33840974-GT 1 33840974 [T/G] NM_198040,NM_001330488 PHC2,PHC2 EXON Missense_T56N,Missense_T56N 1:33841089-CTGG-C 1 33841089 [I/D] NM_198040,NM_001330488 PHC2,PHC2 EXON JHU_1.33844785 1 33844786 [T/C] 1:33847740-T-G 1 33847740 [T/G] JHU_1.33848986 1 33848987 [A/G] rs12127097 1 33850890 [T/C] rs148006973 1 33851045 [C/G] JHU_1.33851399 1 33851400 [T/A] rs182576674 1 33855593 [A/C] JHU_1.33856300 1 33856301 [T/C] rs10798945 1 33858873 [T/C] rs1535917 1 33861853 [A/G] rs1016905 1 33862279 [T/C] JHU_1.33867101 1 33867102 [T/C] rs12137943 1 33867447 [A/C] rs6661037 1 33872593 [T/C] JHU_1.33874482 1 33874483 [A/C] JHU_1.33877059 1 33877060 [T/G] rs6663355 1 33877808 [T/C] JHU_1.33879716 1 33879717 [A/G] rs146039938 1 33880838 [G/C] rs10753283 1 33883243 [A/G] rs10914706 1 33886888 [A/C] JHU_1.33890194 1 33890195 [T/C] JHU_1.33901595 1 33901596 [A/G] JHU_1.33902194 1 33902195 [C/G] JHU_1.33903076 1 33903077 [A/G] rs10914716 1 33905230 [T/C] 1:33906788-G-T 1 33906788 [T/G] rs10798949 1 33907179 [T/C] rs1123295 1 33910453 [A/G] rs6658575 1 33911676 [T/C] rs183800358 1 33912175 [A/G] JHU_1.33917034 1 33917035 [A/G] JHU_1.33921280 1 33921281 [G/C] rs10737370 1 33921878 [T/C] JHU_1.33924606 1 33924607 [T/C] rs12029974 1 33924607 [T/C] rs12565140 1 33928758 [T/C] rs60105965 1 33934437 [A/G] rs10914731 1 33934824 [A/G] rs6425820 1 33936347 [T/C] rs16835496 1 33938845 [A/G] NM_145238 ZSCAN20 Silent rs117603676 1 33943705 [T/G] NM_145238 ZSCAN20 Silent rs61182919 1 33944209 [A/G] NM_145238 ZSCAN20 Silent 1:33944890-AG 1 33944890 [A/G] NM_145238 ZSCAN20 EXON Missense_M1V exm42041 1 33944993 [A/G] NM_145238 ZSCAN20 EXON Missense_K35R JHU_1.33944992 1 33944993 [A/G] NM_145238 ZSCAN20 EXON Missense_K35R exm42043 1 33945011 [A/G] NM_145238 ZSCAN20 EXON Missense_R41H exm42044 1 33945026 [A/G] NM_145238 ZSCAN20 EXON Missense_G46D exm42049 1 33945143 [A/G] NM_145238 ZSCAN20 EXON Missense_R85H rs71647933 1 33945601 [A/G] NM_145238 ZSCAN20 Silent rs10493052 1 33945685 [A/C] NM_145238 ZSCAN20 Silent JHU_1.33945804 1 33945805 [A/G] NM_145238 ZSCAN20 Silent rs35260355 1 33945831 [T/C] NM_145238 ZSCAN20 Silent rs141403178 1 33946674 [A/G] NM_145238 ZSCAN20 Silent rs16835511 1 33947275 [T/C] NM_145238 ZSCAN20 Silent rs7531293 1 33947467 [T/C] NM_145238 ZSCAN20 Silent rs116563715 1 33949843 [A/G] NM_145238 ZSCAN20 Silent JHU_1.33952655 1 33952656 [T/C] NM_145238 ZSCAN20 Silent rs12138026 1 33952656 [T/C] NM_145238 ZSCAN20 Silent exm42061 1 33954167 [A/C] NM_145238 ZSCAN20 EXON Missense_Q174K 1:33954748-AG 1 33954748 [A/G] NM_145238 ZSCAN20 EXON Missense_K213R JHU_1.33954804 1 33954805 [T/C] NM_145238 ZSCAN20 Silent exm42071 1 33955178 [A/G] NM_145238 ZSCAN20 EXON Missense_D248N exm42074 1 33955193 [A/G] NM_145238 ZSCAN20 EXON Missense_V253M JHU_1.33956288 1 33956289 [C/G] NM_145238 ZSCAN20 Silent 1:33956633-GT 1 33956633 [T/G] NM_145238 ZSCAN20 EXON Missense_V259F exm42085 1 33956900 [T/C] NM_145238 ZSCAN20 EXON Missense_R348W exm42091 1 33956976 [T/C] NM_145238 ZSCAN20 EXON Missense_L373P rs3795419 1 33957130 [A/C] NM_145238 ZSCAN20 EXON Synonymous_A424A exm42100 1 33957140 [A/C] NM_145238 ZSCAN20 EXON Missense_P428T exm42103 1 33957152 [T/G] NM_145238 ZSCAN20 EXON Missense_Y432D 1:33957219-GA 1 33957219 [A/G] NM_145238 ZSCAN20 EXON Missense_C454Y 1:33957267-TC 1 33957267 [T/C] NM_145238 ZSCAN20 EXON Missense_I470T exm42107 1 33957267 [T/C] NM_145238 ZSCAN20 EXON Missense_I470T 1:33957312-TC 1 33957312 [T/C] NM_145238 ZSCAN20 Silent rs9662260 1 33957773 [T/C] NM_145238 ZSCAN20 Silent JHU_1.33958396 1 33958397 [A/G] NM_145238 ZSCAN20 Silent exm42116 1 33958910 [A/G] NM_145238 ZSCAN20 EXON Missense_R523Q 1:33959212-AG 1 33959212 [A/G] NM_145238 ZSCAN20 EXON Missense_M624V 1:33959237-T-G 1 33959237 [T/G] NM_145238 ZSCAN20 Silent exm42127 1 33960031 [A/G] NM_145238 ZSCAN20 EXON Missense_K696R exm42132 1 33960082 [A/C] NM_145238 ZSCAN20 EXON Missense_D713A exm42133 1 33960087 [T/G] NM_145238 ZSCAN20 EXON Missense_C715G exm42137 1 33960171 [T/G] NM_145238 ZSCAN20 EXON Missense_C743G 1:33960181-AG 1 33960181 [A/G] NM_145238 ZSCAN20 EXON Missense_N746S 1:33960265-GA 1 33960265 [A/G] NM_145238 ZSCAN20 EXON Missense_S774N 1:33960330-TC 1 33960330 [T/C] NM_145238 ZSCAN20 EXON Missense_C796R 1:33960637-CT 1 33960637 [T/C] NM_145238 ZSCAN20 EXON Missense_T898M exm1796201 1 33960663 [A/G] NM_145238 ZSCAN20 EXON Missense_E907K exm42156 1 33960715 [T/C] NM_145238 ZSCAN20 EXON Missense_T924I chr1_33960753 1 33960753 [T/G] NM_145238 ZSCAN20 EXON Missense_G937W 1:33960798-GA 1 33960798 [A/G] NM_145238 ZSCAN20 EXON Missense_V952M exm42162 1 33960901 [T/C] NM_145238 ZSCAN20 EXON Missense_P986L 1:33960904-AG 1 33960904 [A/G] NM_145238 ZSCAN20 EXON Missense_Y987C 1:33960955-TC 1 33960955 [T/C] NM_145238 ZSCAN20 EXON Missense_I1004T JHU_1.33963425 1 33963426 [T/C] JHU_1.33965376 1 33965377 [T/G] JHU_1.33966822 1 33966823 [A/G] JHU_1.33967851 1 33967852 [A/T] JHU_1.33976979 1 33976980 [T/C] rs10798959 1 33983019 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs2131776 1 33984970 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs4653183 1 33984987 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42169 1 33985177 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_T3613A,Missense_T3469A rs72660159 1 33986179 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:33987098-CA 1 33987098 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G3521V,Missense_G3377V rs7532550 1 33987836 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42183 1 33988963 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_P3485S,Missense_P3341S exm42187 1 33988996 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_H3474Y,Missense_H3330Y exm42190 1 33990500 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V3460M,Missense_V3316M exm42193 1 33990586 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G3431E,Missense_G3287E 1:33990638-CA 1 33990638 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G3414W,Missense_G3270W exm42198 1 33992823 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R3403W,Missense_R3259W 1:33992852-CT 1 33992852 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R3393Q,Missense_R3249Q exm42210 1 33998799 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_T3341M,Missense_T3197M exm42211 1 33999413 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_T3325N,Missense_T3181N exm42213 1 33999455 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_S3311F,Missense_S3167F rs4268325 1 33999763 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs923879 1 33999809 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34002680-GA 1 34002680 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_T3274M,Missense_T3130M exm42222 1 34003089 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R3251H,Missense_R3107H exm1796277 1 34003176 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R3222H,Missense_R3078H JHU_1.34005946 1 34005947 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42230 1 34006182 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A3192T,Missense_A3048T exm42235 1 34006739 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V3150I,Missense_V3006I exm42244 1 34008403 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R3065Q,Missense_R2921Q 1:34011696-GA 1 34011696 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_S3014L,Missense_S2870L exm42259 1 34011799 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G2980S,Missense_G2836S exm42264 1 34015851 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2948H,Missense_R2804H exm42266 1 34015872 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2941Q,Missense_R2797Q JHU_1.34019362 1 34019363 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs2794606 1 34019467 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs116308810 1 34022998 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34023252 1 34023253 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34023423-CT 1 34023423 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2885Q,Silent 1:34023469-CT 1 34023469 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A2870T,Silent rs10914743 1 34024544 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs2247951 1 34024567 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34024566 1 34024567 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34024977-CA 1 34024977 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G2826V,Silent JHU_1.34025135 1 34025136 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs933044 1 34026479 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs923882 1 34029070 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1493994 1 34030514 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34031897 1 34031898 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42272 1 34033273 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A2767G,Missense_A2744G exm42277 1 34033352 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_T2741S,Missense_T2718S rs5007951 1 34034649 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42279 1 34034977 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L2710F,Missense_L2712F exm42282 1 34035009 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_N2699S,Missense_N2701S exm42284 1 34035105 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2667H,Missense_R2669H exm42285 1 34035114 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_N2664S,Missense_N2666S exm42290 1 34035130 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L2659V,Missense_L2661V JHU_1.34035480 1 34035481 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42293 1 34037185 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2635H,Missense_R2637H exm42298 1 34037294 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V2599M,Missense_V2601M JHU_1.34038005 1 34038006 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42303 1 34038214 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_M2552V,Missense_M2554V exm42304 1 34038260 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_K2536N,Missense_K2538N JHU_1.34038665 1 34038666 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914746 1 34039844 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs16835617 1 34042245 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs729176 1 34042560 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42308 1 34042937 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_Q2512R,Missense_Q2514R 1:34043019-GT 1 34043019 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_P2485T,Missense_P2487T newrs142035256 1 34043086 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34044202 1 34044203 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34044554 1 34044555 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs292809 1 34046066 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34046361-CT 1 34046361 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2460H,Missense_R2462H exm42315 1 34046406 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2445H,Missense_R2447H JHU_1.34047989 1 34047990 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs416391 1 34048268 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs112918243 1 34048367 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34048366 1 34048367 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34049260-CT 1 34049260 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_E2408K,Missense_E2410K rs16835640 1 34050753 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs11586497 1 34051242 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs721306 1 34051436 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42323 1 34052119 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_P2346S,Missense_P2348S exm42329 1 34052721 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_E2302K,Missense_E2304K rs2781790 1 34054862 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs72662019 1 34056432 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34057007 1 34057008 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34057213 1 34057214 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34058910 1 34058911 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12042814 1 34061778 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914749 1 34063516 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs75489129 1 34064974 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34065751-GA 1 34065751 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42338 1 34066506 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2272H,Missense_R2274H exm42342 1 34066566 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2252Q,Missense_R2254Q exm42343 1 34066567 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2252W,Missense_R2254W exm42344 1 34066576 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V2249I,Missense_V2251I 1:34066584-CT 1 34066584 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2246Q,Missense_R2248Q 1:34068024-GA 1 34068024 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2219C,Missense_R2221C 1:34068095-CT 1 34068095 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G2195E,Missense_G2197E exm42353 1 34068098 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_P2194L,Missense_P2196L exm42355 1 34068114 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G2189S,Missense_G2191S rs72662026 1 34068308 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34070999-CT 1 34070999 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V2139M,Missense_V2141M exm42368 1 34071065 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_E2117K,Missense_E2119K exm42372 1 34071489 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Silent,Missense_V2108G exm42374 1 34071493 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Silent,Missense_Y2107H exm2233220 1 34071507 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Silent,Missense_P2102R exm42377 1 34071525 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Silent,Missense_R2096K rs1874045 1 34071525 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Silent,Missense_R2096K JHU_1.34073423 1 34073424 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34073799 1 34073800 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34076199 1 34076200 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42382 1 34076667 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R2106Q,Missense_R2066Q exm42387 1 34076740 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_E2082K,Missense_E2042K variant.2308 1 34080099 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42397 1 34080121 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A2039V,Missense_A1999V 1:34080142-AC 1 34080142 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_M2032R,Missense_M1992R rs12046869 1 34080918 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34081407 1 34081408 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914755 1 34082279 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34083212-CT 1 34083212 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G1945S,Missense_G1905S exm42408 1 34083216 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_T1943T,Synonymous_T1903T rs147464413 1 34083460 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34083633 1 34083634 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42418 1 34090145 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V1867M,Missense_V1827M JHU_1.34090410 1 34090411 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42421 1 34090660 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_T1831A,Missense_T1791A rs16835683 1 34090679 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_Q1824Q,Synonymous_Q1784Q exm42423 1 34090696 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_P1819S,Missense_P1779S exm42430 1 34090765 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_I1796V,Missense_I1756V 1:34090806-CT 1 34090806 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R1782H,Missense_R1742H rs74373321 1 34091375 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12025986 1 34091444 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs72662038 1 34091690 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42437 1 34092131 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A1751T,Missense_A1711T JHU_1.34097376 1 34097377 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42441 1 34099057 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_S1722L,Missense_S1682L exm42447 1 34100871 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_Q1677K,Missense_Q1637K rs6701479 1 34101727 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34101974-CT 1 34101974 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R1652Q,Missense_R1612Q JHU_1.34102053 1 34102054 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_H1625H,Synonymous_H1585H rs143855610 1 34107171 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs370197 1 34109053 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1690553 1 34109200 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34110993 1 34110994 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42469 1 34112263 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V1587I,Missense_V1547I 1:34112389-GA 1 34112389 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R1545W,Missense_R1505W exm1796425 1 34112395 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_D1543N,Missense_D1503N JHU_1.34112961 1 34112962 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34115267 1 34115268 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs72890891 1 34118264 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs144840756 1 34121724 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34123626-GA 1 34123626 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A1456V,Missense_A1416V 1:34123663-CT 1 34123663 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G1444S,Missense_G1404S 1:34123687-GA 1 34123687 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R1436W,Missense_R1396W exm42495 1 34128652 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V1365M,Missense_V1325M JHU_1.34132500 1 34132501 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs61799706 1 34133556 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs543735 1 34133840 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34134504 1 34134505 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12023388 1 34136136 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs4653334 1 34136452 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34144080 1 34144081 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34149826 1 34149827 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs649214 1 34150551 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs668310 1 34156533 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs60125083 1 34157660 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42498 1 34158543 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G1347S,Missense_G1307S 1:34158632-CA 1 34158632 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G1317V,Missense_G1277V JHU_1.34160823 1 34160824 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34160837 1 34160838 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42504 1 34164368 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L1304V,Missense_L1264V 1:34166207-CA 1 34166207 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V1215L,Missense_V1175L exm42512 1 34166210 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G1214R,Missense_G1174R exm42514 1 34166249 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_A1201T,Missense_A1161T rs72662071 1 34167109 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34169977 1 34169978 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34171534 1 34171535 [T/A] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34173283 1 34173284 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs564148 1 34173820 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42518 1 34174789 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_N1159S,Missense_N1119S rs10914766 1 34175928 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34176365 1 34176366 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914767 1 34177600 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs565953 1 34178508 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs16835742 1 34180842 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7533254 1 34181830 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34184466 1 34184467 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34184670 1 34184671 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs34972997 1 34184776 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34184775 1 34184776 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs528059 1 34186193 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34187077 1 34187078 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34188923 1 34188924 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs544991 1 34189429 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs667892 1 34189552 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs61743144 1 34189888 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_G970G,Synonymous_G930G exm2233233 1 34190185 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L939S,Missense_L899S exm2251442 1 34190199 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_D934D,Synonymous_D894D exm42554 1 34190239 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_N921S,Missense_N881S exm1796680 1 34190962 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L895F,Missense_L855F exm2251443 1 34192255 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_S800S,Synonymous_S760S JHU_1.34195000 1 34195001 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs76385440 1 34195952 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs80277992 1 34196003 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34196529 1 34196530 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs652391 1 34202162 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34204283 1 34204284 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42576 1 34204887 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_K741R,Missense_K701R 1:34204903-CT 1 34204903 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V736I,Missense_V696I rs111436817 1 34205845 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs481776 1 34205859 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34208141 1 34208142 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm2268876 1 34208399 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42585 1 34209004 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_V684I,Missense_V644I rs4639720 1 34210419 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs4578181 1 34210532 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34211612 1 34211613 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6682875 1 34213109 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs545122 1 34213238 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs989661 1 34217931 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs138422978 1 34221054 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs34232788 1 34221985 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34222033 1 34222034 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs80227999 1 34222034 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34226240 1 34226241 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs75165198 1 34226241 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34226726 1 34226727 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34228478 1 34228479 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs74691496 1 34228964 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34229129 1 34229130 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34231788 1 34231789 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34234136 1 34234137 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs113190326 1 34237912 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34238266-TC 1 34238266 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_K584E,Missense_K544E exm42603 1 34238283 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_H578R,Missense_H538R rs474474 1 34238283 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_H578R,Missense_H538R rs479938 1 34238852 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34241491 1 34241492 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34242811 1 34242812 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34243268 1 34243269 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs58862022 1 34244587 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34246221 1 34246222 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34246517 1 34246518 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34246583 1 34246584 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34246609 1 34246610 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34247076 1 34247077 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs477438 1 34247946 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm-rs476463 1 34248064 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34249329 1 34249330 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs9887778 1 34250957 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12133088 1 34251481 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34252133 1 34252134 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42608 1 34254272 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_N531S,Missense_N491S exm42612 1 34254288 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L526V,Missense_L486V JHU_1.34254684 1 34254685 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34256713 1 34256714 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs545170 1 34256734 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42617 1 34258060 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G505D,Missense_G465D exm42619 1 34258088 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_G496S,Missense_G456S rs10914780 1 34261267 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6657889 1 34261689 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs77467529 1 34263913 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs141700499 1 34264109 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34264250 1 34264251 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12408037 1 34270187 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34270459-CA 1 34270459 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10737374 1 34270498 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34273024 1 34273025 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34273481 1 34273482 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42630 1 34276432 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_S453L,Missense_S413L 1:34276462-CT 1 34276462 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R443H,Missense_R403H rs74067906 1 34276969 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1325242 1 34278533 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34279144 1 34279145 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34279159 1 34279160 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12047779 1 34280343 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs3845473 1 34282691 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34282716 1 34282717 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34283251 1 34283252 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34283260 1 34283261 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34283574-G-T 1 34283574 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42638 1 34286107 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_I388V,Missense_I348V rs2281595 1 34287512 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12096149 1 34288935 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42648 1 34291367 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_Q348K,Missense_Q308K JHU_1.34293028 1 34293029 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34303069 1 34303070 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1321623 1 34306705 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914800 1 34308163 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6425850 1 34308585 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7536641 1 34308968 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34311471 1 34311472 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34312514-CT 1 34312514 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_R335Q,Missense_R295Q rs2180745 1 34313983 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1358820 1 34318094 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34318295-C-T 1 34318295 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12075604 1 34318885 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs55760158 1 34321653 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs753893 1 34322237 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1158145 1 34323487 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs193010149 1 34324358 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34327391 1 34327392 [T/C] NM_001281956,NM_052896,NM_145205 CSMD2,CSMD2,HMGB4 Silent,Silent,Silent rs142913678 1 34329256 [T/C] NM_001281956,NM_052896,NM_145205 CSMD2,CSMD2,HMGB4 EXON Silent,Silent,Silent 1:34329845-AG 1 34329845 [A/G] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_H18R,Silent Variant37847 1 34329897 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Synonymous_Y35Y,Silent exm42661 1 34329929 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_S46L,Silent 1:34329982-GA 1 34329982 [A/G] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_A64T,Silent exm42667 1 34330046 [A/G] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_R85Q,Missense_R11Q exm42668 1 34330067 [A/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_E92A,Missense_E18A exm42669 1 34330070 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_P93L,Missense_P19L exm42672 1 34330096 [A/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_L102I,Missense_L28I exm42675 1 34330137 [A/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_N115K,Missense_N41K 1:34330154-TC 1 34330154 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_V121A,Missense_V47A exm42677 1 34330200 [C/G] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_D136E,Missense_D62E exm42688 1 34330273 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_R161C,Missense_R87C 1:34330273-CT 1 34330273 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_R161C,Missense_R87C exm42690 1 34330300 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_Y170H,Missense_Y96H exm42691 1 34330321 [T/C] NM_001281956,NM_052896,NM_145205,NM_001352984 CSMD2,CSMD2,HMGB4,HMGB4 EXON Silent,Silent,Missense_R177W,Missense_R103W rs72892928 1 34330508 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34332091 1 34332092 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs77633101 1 34332530 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1108927 1 34333267 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34334014 1 34334015 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs116650536 1 34334015 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1923140 1 34337704 [A/G] NM_001281956,NM_052896,NR_038372 CSMD2,CSMD2,CSMD2-AS1 Silent,Silent,Silent rs6425855 1 34346361 [T/G] NM_001281956,NM_052896,NR_038372 CSMD2,CSMD2,CSMD2-AS1 Silent,Silent,Silent rs12058145 1 34347846 [A/G] NM_001281956,NM_052896,NR_038372 CSMD2,CSMD2,CSMD2-AS1 Silent,Silent,Silent rs4653356 1 34349560 [G/C] NM_001281956,NM_052896,NR_038372 CSMD2,CSMD2,CSMD2-AS1 Silent,Silent,Silent rs4653357 1 34349733 [C/G] NM_001281956,NM_052896,NR_038372 CSMD2,CSMD2,CSMD2-AS1 Silent,Silent,Silent rs3738342 1 34350730 [T/G] NM_001281956,NM_052896,NR_038372 CSMD2,CSMD2,CSMD2-AS1 EXON Silent,Silent,Silent rs148162186 1 34352382 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914803 1 34353648 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs116210248 1 34354713 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10799004 1 34358476 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm-rs2281597 1 34359858 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs16836072 1 34361301 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10799006 1 34362665 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34363681 1 34363682 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7528354 1 34366411 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1570089 1 34369245 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm2264819 1 34372503 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34373976 1 34373977 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34373987 1 34373988 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34374084 1 34374085 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34374316 1 34374317 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34375039 1 34375040 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs911216 1 34375199 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs911217 1 34375361 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7524683 1 34379724 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34380012 1 34380013 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12741054 1 34381191 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34382004 1 34382005 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7533958 1 34382423 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12081842 1 34383108 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34384694 1 34384695 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34385091 1 34385092 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12031839 1 34386710 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34387979 1 34387980 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs148219150 1 34388104 [T/A] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914815 1 34391498 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs72894824 1 34395835 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6425863 1 34398141 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42707 1 34401453 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_L207P,Missense_L167P exm42711 1 34401554 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Synonymous_V173V,Synonymous_V133V rs74069851 1 34405242 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1149138 1 34408609 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34409613 1 34409614 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs556392 1 34412815 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs513617 1 34413398 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34415036 1 34415037 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs116113940 1 34416051 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34416163 1 34416164 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs504471 1 34418942 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12023736 1 34419671 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12031262 1 34420033 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34421372 1 34421373 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs9425892 1 34421513 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34421566 1 34421567 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs76805283 1 34422163 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34422203 1 34422204 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs11811025 1 34422969 [T/A] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34423526 1 34423527 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs549944 1 34424462 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34428342 1 34428343 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs483006 1 34428343 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12723958 1 34429951 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs545337 1 34430533 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34430851 1 34430852 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34431892 1 34431893 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12128266 1 34432484 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs114396668 1 34432920 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs74344488 1 34436757 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6663957 1 34437596 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs501094 1 34438709 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs502199 1 34438881 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs506546 1 34439294 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34440004 1 34440005 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1325253 1 34440549 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs749733 1 34443688 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs4408120 1 34446139 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34448454 1 34448455 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34449934 1 34449935 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34450488 1 34450489 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10799014 1 34450785 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs143845268 1 34451053 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10449236 1 34453282 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914829 1 34454394 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs520226 1 34456109 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34460289 1 34460290 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs76508327 1 34460711 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs2358755 1 34460961 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7525205 1 34462829 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs533861 1 34463451 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs72882615 1 34468747 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs487472 1 34470308 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs9286948 1 34473786 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs138806509 1 34475573 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1325258 1 34477581 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs149897497 1 34479135 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs75030129 1 34479478 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs2358756 1 34479922 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34484183 1 34484184 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1465782 1 34488578 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12562296 1 34489758 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs146734877 1 34491731 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs58801364 1 34494095 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs35075499 1 34494665 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914850 1 34496094 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs72882633 1 34496540 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs2625684 1 34505115 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs79369678 1 34508420 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs111635420 1 34509477 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12029747 1 34509751 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs899378 1 34515330 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs115538406 1 34518848 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34520643 1 34520644 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34521377 1 34521378 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs72667714 1 34522334 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs117484646 1 34523884 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6425872 1 34524849 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6700561 1 34525105 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34528014 1 34528015 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs72667725 1 34530894 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6679844 1 34535791 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34538479 1 34538480 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34538814 1 34538815 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34539106 1 34539107 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs9425985 1 34541565 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs9425986 1 34541724 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34542162 1 34542163 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs147868526 1 34543486 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34544129 1 34544130 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34546467 1 34546468 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34548902 1 34548903 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34549246 1 34549247 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34549757 1 34549758 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs75662970 1 34551350 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34551636 1 34551637 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent exm42719 1 34554603 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_P127A,Missense_P87A exm42722 1 34554680 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 EXON Missense_Q101R,Missense_Q61R JHU_1.34555774 1 34555775 [C/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs9425991 1 34564086 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs6665353 1 34564936 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12048816 1 34565359 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34568287 1 34568288 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34568549 1 34568550 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs72667743 1 34568642 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34569441 1 34569442 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34570090 1 34570091 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs117516520 1 34570342 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs112109174 1 34570883 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs1382600 1 34574691 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34579079 1 34579080 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34579101 1 34579102 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34584338 1 34584339 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs11581276 1 34586161 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34589418 1 34589419 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7551988 1 34590285 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs9425907 1 34590706 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34594613 1 34594614 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7530924 1 34595359 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34599680 1 34599681 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34600844 1 34600845 [A/T] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs9662615 1 34604567 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34605901 1 34605902 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs146236438 1 34607396 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs771149 1 34608341 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs705211 1 34609068 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs114610300 1 34614290 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34615679 1 34615680 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34616250 1 34616251 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs771130 1 34616592 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs11590546 1 34616871 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12755908 1 34617256 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs4652989 1 34619647 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs74355352 1 34619667 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12048192 1 34620023 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10914880 1 34620770 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs111752512 1 34622725 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34623219 1 34623220 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent JHU_1.34624935 1 34624936 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs7552457 1 34625898 [A/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs10493055 1 34626340 [T/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs771126 1 34626806 [A/G] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs771124 1 34627298 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs115552250 1 34629504 [G/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs12077276 1 34630023 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent rs115995489 1 34630141 [T/C] NM_001281956,NM_052896 CSMD2,CSMD2 Silent,Silent 1:34631379-CA 1 34631379 [A/C] NM_052896 CSMD2 EXON Missense_W12C 1:34631404-AG 1 34631404 [A/G] NM_052896 CSMD2 EXON Missense_I4T JHU_1.34638177 1 34638178 [T/C] NM_032884 C1orf94 Silent JHU_1.34640802 1 34640803 [A/T] NM_032884 C1orf94 Silent JHU_1.34640835 1 34640836 [A/G] NM_032884 C1orf94 Silent rs78921994 1 34641346 [T/G] NM_032884 C1orf94 Silent JHU_1.34642738 1 34642739 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Silent chr1_34643415 1 34643415 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_L9I rs750572 1 34643837 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent JHU_1.34644580 1 34644581 [A/T] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs80032257 1 34644670 [T/A] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs72667783 1 34646035 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs76234360 1 34647282 [C/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs1993911 1 34651715 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs6692400 1 34652982 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent JHU_1.34653855 1 34653856 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs7535080 1 34654365 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent JHU_1.34655184 1 34655185 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent JHU_1.34657535 1 34657536 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs1771365 1 34659156 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs78719348 1 34659411 [T/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs76515573 1 34661851 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent exm42746 1 34662836 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_L111F exm42750 1 34662914 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_V137I exm42751 1 34662919 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_E138D 1:34663046-GA 1 34663046 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Missense_G181R exm42757 1 34663143 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_A23D,Missense_A213D exm2251459 1 34663180 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Synonymous_R35R,Synonymous_R225R rs3795412 1 34663180 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Synonymous_R35R,Synonymous_R225R 1:34663185-GA 1 34663185 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_R37H,Missense_R227H exm42765 1 34663208 [G/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_Q45E,Missense_Q235E exm42768 1 34663340 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_G89R,Missense_G279R 1:34663388-CT 1 34663388 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Nonsense_R105X,Nonsense_R295X 1:34663403-CT 1 34663403 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_R110C,Missense_R300C exm42773 1 34663411 [G/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_D112E,Missense_D302E 1:34663434-AG 1 34663434 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_Q120R,Missense_Q310R exm42777 1 34663482 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_A136D,Missense_A326D exm42779 1 34666374 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Synonymous_E147E,Synonymous_E337E 1:34666492-GA 1 34666492 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_A187T,Missense_A377T exm42795 1 34666582 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_G217R,Missense_G407R exm42796 1 34666589 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_P219L,Missense_P409L 1:34666622-CT 1 34666622 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_P230L,Missense_P420L JHU_1.34667554 1 34667555 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent exm42804 1 34667724 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_K247R,Missense_K437R 1:34667754-TC 1 34667754 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_F257S,Missense_F447S exm42806 1 34667772 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_S263L,Missense_S453L 1:34667777-AC 1 34667777 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_T265P,Missense_T455P rs12746310 1 34667863 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs297804 1 34671355 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs115939444 1 34671439 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs13375367 1 34672699 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent 1:34673824-TC 1 34673824 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_Y315H,Missense_Y505H rs139618727 1 34674135 [A/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs297802 1 34674814 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs76443213 1 34675047 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs297794 1 34675755 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent exm42816 1 34677815 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_M320T,Missense_M510T 1:34677853-CT 1 34677853 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_R333C,Missense_R523C 1:34677949-CT 1 34677949 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Nonsense_R365X,Nonsense_R555X exm42826 1 34678007 [T/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_G384V,Missense_G574V JHU_1.34678956 1 34678957 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs4652997 1 34679066 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent JHU_1.34680486 1 34680487 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs114168184 1 34680487 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs76411160 1 34680802 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent 1:34684306-GA 1 34684306 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_G391R,Missense_G581R 1:34684345-AG 1 34684345 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Missense_N404D,Missense_N594D rs705207 1 34684463 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Silent rs1061074 1 34684621 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Silent rs12043879 1 34686130 [A/C] rs75815485 1 34697314 [A/G] rs1414472 1 34697488 [A/G] rs114025595 1 34697997 [A/G] rs111988749 1 34704529 [T/A] rs4652831 1 34704851 [T/C] 1:34705225-T-A 1 34705225 [T/A] rs148040762 1 34706194 [T/C] rs72667801 1 34711945 [A/G] rs2795634 1 34714693 [T/C] rs771410 1 34723163 [A/G] rs1967913 1 34723628 [A/G] rs771404 1 34726167 [A/G] rs771400 1 34727902 [A/G] rs771399 1 34728280 [A/G] rs10914896 1 34735938 [A/G] rs1414470 1 34736287 [A/G] JHU_1.34736853 1 34736854 [A/C] rs141875090 1 34739817 [A/G] rs76981599 1 34744649 [A/G] rs6677202 1 34748645 [T/C] rs771390 1 34750936 [T/C] rs78521672 1 34751419 [A/G] rs149980481 1 34753190 [T/G] rs12057338 1 34754069 [A/G] rs78819893 1 34755930 [A/G] rs6704508 1 34756509 [T/G] rs4653018 1 34761364 [T/C] rs7553842 1 34762089 [A/G] rs115961592 1 34763961 [T/C] rs1404350 1 34764974 [A/C] rs117064792 1 34765087 [T/C] rs139459175 1 34771506 [T/C] rs2091189 1 34779710 [A/G] rs12130968 1 34790866 [T/G] JHU_1.34793635 1 34793636 [A/G] rs10914915 1 34796092 [A/G] JHU_1.34798934 1 34798935 [T/C] JHU_1.34799417 1 34799418 [T/A] JHU_1.34799757 1 34799758 [A/G] rs138319862 1 34800727 [A/G] rs12083114 1 34800867 [A/G] rs72892552 1 34801201 [C/G] JHU_1.34803159 1 34803160 [T/C] rs4652836 1 34806304 [T/C] rs10799047 1 34809587 [A/C] rs115373562 1 34813346 [A/G] rs10493057 1 34813506 [A/G] rs75888118 1 34817977 [T/C] rs146924188 1 34825730 [T/C] JHU_1.34825940 1 34825941 [A/G] JHU_1.34829003 1 34829004 [T/C] rs116763201 1 34829004 [T/C] JHU_1.34829828 1 34829829 [A/G] rs7537783 1 34830640 [T/C] JHU_1.34831332 1 34831333 [A/G] rs1736476 1 34835180 [T/G] rs80214330 1 34835216 [A/C] rs705203 1 34839501 [T/C] rs112703919 1 34843468 [C/G] JHU_1.34843467 1 34843468 [C/G] rs17380703 1 34844208 [T/C] rs705197 1 34844836 [A/G] JHU_1.34846161 1 34846162 [T/C] rs72652060 1 34846913 [C/G] JHU_1.34848131 1 34848132 [A/G] JHU_1.34862125 1 34862126 [A/C] JHU_1.34865467 1 34865468 [A/C] rs144519064 1 34866073 [T/C] rs12732639 1 34866283 [T/C] rs78857157 1 34867597 [T/C] rs183824953 1 34868630 [T/C] rs12748289 1 34869535 [A/G] rs732699 1 34871620 [A/G] rs61770078 1 34871856 [A/G] JHU_1.34876069 1 34876070 [A/C] rs72652076 1 34876070 [A/C] JHU_1.34876358 1 34876359 [T/G] rs74064343 1 34876620 [G/C] JHU_1.34876828 1 34876829 [T/C] JHU_1.34876856 1 34876857 [A/G] JHU_1.34876880 1 34876881 [T/C] rs6696541 1 34877447 [A/G] rs7530700 1 34879050 [T/C] JHU_1.34879755 1 34879756 [T/G] JHU_1.34882643 1 34882644 [T/C] JHU_1.34883888 1 34883889 [T/C] JHU_1.34886604 1 34886605 [A/T] JHU_1.34886816 1 34886817 [T/C] JHU_1.34886996 1 34886997 [A/C] JHU_1.34887227 1 34887228 [A/G] JHU_1.34887693 1 34887694 [A/G] rs4653029 1 34889492 [T/C] rs11590294 1 34889632 [A/T] rs148284313 1 34890581 [T/G] rs2075931 1 34890596 [T/C] rs72898368 1 34894622 [A/G] rs17385253 1 34895009 [T/C] rs6676871 1 34896404 [A/G] rs7533470 1 34896603 [A/G] rs115308135 1 34897618 [A/G] rs80067291 1 34899796 [T/C] rs2142534 1 34900172 [A/G] rs16836700 1 34901338 [T/G] rs12098170 1 34902575 [T/C] rs4653032 1 34902910 [A/C] rs58252767 1 34903355 [A/C] rs76273356 1 34903750 [A/G] rs10753308 1 34907148 [A/G] rs75944466 1 34910907 [A/G] JHU_1.34914755 1 34914756 [A/G] rs12134720 1 34915394 [T/C] rs71647976 1 34916084 [A/G] rs4653036 1 34916121 [A/G] rs10914952 1 34919213 [A/G] rs10914953 1 34919266 [T/C] rs2075933 1 34921075 [T/C] rs140617746 1 34922059 [C/G] rs4653037 1 34922823 [T/C] rs72654108 1 34923052 [A/T] rs7544781 1 34928441 [T/C] JHU_1.34929622 1 34929623 [T/C] rs12130251 1 34931856 [A/G] rs78762164 1 34934751 [T/C] rs798075 1 34936992 [T/C] rs74064379 1 34937366 [A/G] JHU_1.34939966 1 34939967 [T/C] JHU_1.34940302 1 34940303 [G/C] JHU_1.34940699 1 34940700 [T/C] JHU_1.34942192 1 34942193 [T/C] rs10914958 1 34943763 [A/G] rs41416648 1 34944591 [T/C] 1:34947409-G-A 1 34947409 [A/G] rs75542339 1 34947662 [G/C] rs3896119 1 34947725 [A/G] rs80268629 1 34948304 [C/G] JHU_1.34948633 1 34948634 [T/C] rs115753637 1 34949446 [A/T] rs3905173 1 34951596 [T/C] rs12047023 1 34951653 [G/C] rs75149336 1 34952630 [T/C] rs12562095 1 34959106 [T/A] JHU_1.34959884 1 34959885 [A/G] rs2359106 1 34962675 [A/G] rs3845483 1 34962846 [A/G] rs3856132 1 34963269 [A/G] rs75279775 1 34963626 [T/C] rs11802217 1 34963866 [C/G] rs115292456 1 34965508 [T/G] rs4652841 1 34967241 [A/G] rs16836755 1 34967563 [T/C] JHU_1.34967820 1 34967821 [A/C] JHU_1.34967829 1 34967830 [T/G] JHU_1.34971597 1 34971598 [A/G] rs147422963 1 34977837 [A/G] JHU_1.34980908 1 34980909 [T/C] rs6694043 1 34982041 [A/G] JHU_1.34989182 1 34989183 [T/C] rs10914967 1 34989237 [A/G] rs4653052 1 34992037 [A/C] rs114014786 1 34993991 [T/C] JHU_1.34993990 1 34993991 [T/C] rs4595337 1 34995974 [A/G] rs10799066 1 34996348 [T/C] rs10737381 1 34996413 [T/C] rs6692085 1 34998640 [T/C] rs74754219 1 35003524 [T/C] rs72654146 1 35003861 [A/G] rs12038248 1 35005658 [A/C] rs139024752 1 35006163 [T/C] rs79161065 1 35007235 [T/G] rs147209161 1 35008588 [A/G] rs79324895 1 35009885 [T/C] rs12136079 1 35013586 [A/G] rs79385334 1 35013690 [T/C] rs6425900 1 35029632 [A/G] JHU_1.35030972 1 35030973 [A/G] rs6668930 1 35042445 [T/C] rs76510931 1 35043331 [T/C] rs12566354 1 35045587 [G/C] rs182512312 1 35046734 [A/G] exm2251474 1 35049252 [A/G] rs10914983 1 35049332 [A/G] rs12074036 1 35050334 [A/C] rs74064408 1 35056423 [A/T] JHU_1.35056422 1 35056423 [A/T] JHU_1.35057912 1 35057913 [C/G] rs728447 1 35058148 [A/C] rs2359406 1 35058239 [T/C] rs79562036 1 35060462 [A/G] JHU_1.35062157 1 35062158 [A/C] JHU_1.35063366 1 35063367 [C/G] JHU_1.35064558 1 35064559 [T/C] rs10914989 1 35064738 [A/G] rs56133319 1 35065885 [A/G] rs7528705 1 35065969 [T/G] JHU_1.35068898 1 35068899 [G/C] rs78793186 1 35072260 [T/C] rs80316802 1 35077502 [A/G] JHU_1.35080783 1 35080784 [A/G] JHU_1.35082724 1 35082725 [A/G] rs7539199 1 35083266 [A/G] rs6695510 1 35085870 [A/G] rs716289 1 35086365 [T/C] JHU_1.35091193 1 35091194 [A/C] rs2093880 1 35093593 [T/G] rs6425904 1 35094871 [A/G] rs7548924 1 35095368 [T/C] rs10914996 1 35095609 [A/G] rs12132123 1 35095652 [A/C] rs72655710 1 35097307 [A/G] rs79561621 1 35104655 [T/G] JHU_1.35107071 1 35107072 [A/G] rs4652851 1 35112024 [A/G] rs79867679 1 35113300 [T/C] rs12140922 1 35114647 [A/C] rs12037767 1 35115365 [G/C] JHU_1.35116254 1 35116255 [T/C] rs12041637 1 35119490 [A/G] rs61776033 1 35121142 [C/G] rs10915010 1 35122523 [T/C] JHU_1.35126604 1 35126605 [A/T] rs912537 1 35127074 [A/G] rs192009548 1 35130487 [T/C] rs72893040 1 35131390 [T/C] rs148357686 1 35135954 [T/C] JHU_1.35136423 1 35136424 [T/G] rs61148845 1 35141811 [T/A] JHU_1.35143670 1 35143671 [A/T] JHU_1.35147042 1 35147043 [A/G] rs12022285 1 35147113 [A/G] JHU_1.35147729 1 35147730 [T/A] JHU_1.35149755 1 35149756 [G/C] JHU_1.35150956 1 35150957 [A/G] JHU_1.35151085 1 35151086 [A/G] rs1177663 1 35152490 [T/C] rs113234085 1 35155194 [A/G] rs72655737 1 35155294 [G/C] JHU_1.35155813 1 35155814 [A/T] rs111980417 1 35156635 [T/C] rs7550582 1 35159275 [G/C] rs12136236 1 35159799 [T/C] rs4320749 1 35161802 [A/G] rs1336625 1 35162901 [T/G] JHU_1.35165192 1 35165193 [A/G] rs17473343 1 35165193 [A/G] rs17473524 1 35170315 [T/C] JHU_1.35171030 1 35171031 [T/C] rs945600 1 35173702 [T/A] JHU_1.35174694 1 35174695 [A/G] rs61776057 1 35177448 [T/G] JHU_1.35178048 1 35178049 [T/C] rs911234 1 35178260 [T/C] JHU_1.35178341 1 35178342 [T/C] JHU_1.35180118 1 35180119 [T/C] JHU_1.35180147 1 35180148 [A/G] rs618818 1 35181105 [T/C] JHU_1.35182624 1 35182625 [A/C] rs684524 1 35183638 [A/G] JHU_1.35184171 1 35184172 [T/A] rs10489658 1 35185845 [T/C] JHU_1.35187057 1 35187058 [T/A] rs80080878 1 35189148 [T/G] rs74789448 1 35189318 [T/C] rs13303314 1 35189966 [T/C] rs516800 1 35192797 [A/G] JHU_1.35197648 1 35197649 [T/C] rs9425909 1 35199720 [T/C] JHU_1.35200076 1 35200077 [A/C] rs78331836 1 35200922 [T/C] rs501627 1 35203498 [T/C] JHU_1.35203497 1 35203498 [T/C] JHU_1.35205926 1 35205927 [A/G] JHU_1.35205982 1 35205983 [A/G] rs1741973 1 35206416 [A/G] rs9426007 1 35208698 [T/C] rs7527836 1 35209389 [T/C] rs76960172 1 35211457 [A/G] rs74864556 1 35211807 [T/C] JHU_1.35212810 1 35212811 [A/T] rs506162 1 35213457 [T/A] rs562781 1 35215040 [T/G] rs7532654 1 35215068 [T/C] rs75944175 1 35217979 [A/C] rs692923 1 35218077 [T/C] rs111911596 1 35218271 [A/G] rs28472755 1 35218694 [T/G] rs77802077 1 35222619 [G/C] NM_005268 GJB5 Silent exm42858 1 35222995 [T/C] NM_005268 GJB5 EXON Missense_R22C exm42859 1 35223025 [T/C] NM_005268 GJB5 EXON Missense_R32C 1:35223047-CT 1 35223047 [T/C] NM_005268 GJB5 EXON Missense_T39M Variant37848 1 35223075 [T/C] NM_005268 GJB5 EXON Synonymous_H48H 1:35223097-CT 1 35223097 [T/C] NM_005268 GJB5 EXON Missense_R56C exm42867 1 35223118 [A/G] NM_005268 GJB5 EXON Missense_V63I 1:35223154-CT 1 35223154 [T/C] NM_005268 GJB5 EXON Missense_R75C chr1_35223202 1 35223202 [A/G] NM_005268 GJB5 EXON Missense_V91M 1:35223214-GA 1 35223214 [A/G] NM_005268 GJB5 EXON Missense_V95M exm42872 1 35223223 [T/C] NM_005268 GJB5 EXON Missense_R98W exm42873 1 35223224 [A/G] NM_005268 GJB5 EXON Missense_R98Q 1:35223248-GA 1 35223248 [A/G] NM_005268 GJB5 EXON Missense_R106Q 1:35223296-AG 1 35223296 [A/G] NM_005268 GJB5 EXON Missense_K122R rs3738345 1 35223345 [A/G] NM_005268 GJB5 EXON Synonymous_K138K exm42891 1 35223502 [A/G] NM_005268 GJB5 EXON Missense_V191M exm42892 1 35223509 [T/C] NM_005268 GJB5 EXON Missense_T193I 1:35223574-GA 1 35223574 [A/G] NM_005268 GJB5 EXON Missense_E215K chr1_35223583 1 35223583 [A/G] NM_005268 GJB5 EXON Missense_A218T 1:35223601-GA 1 35223601 [A/G] NM_005268 GJB5 EXON Missense_A224T 1:35223617-AG 1 35223617 [A/G] NM_005268 GJB5 EXON Missense_H229R 1:35223655-GA 1 35223655 [A/G] NM_005268 GJB5 EXON Missense_D242N 1:35223665-CA 1 35223665 [A/C] NM_005268 GJB5 EXON Nonsense_S245X exm42901 1 35223719 [A/G] NM_005268 GJB5 EXON Missense_R263H JHU_1.35223831 1 35223832 [T/G] NM_005268 GJB5 EXON Silent rs2093185 1 35224312 [T/G] JHU_1.35226073 1 35226074 [G/C] NM_153212 GJB4 Silent rs201611468 1 35226862 [T/C] NM_153212 GJB4 EXON Missense_W3R 1:35226890-G-A 1 35226890 [A/G] NM_153212 GJB4 EXON Missense_G12D exm42909 1 35226892 [A/G] NM_153212 GJB4 EXON Missense_V13M rs80358212 1 35226920 [A/G] NM_153212 GJB4 EXON Missense_R22H 1:35226927-GA 1 35226927 [A/G] NM_153212 GJB4 EXON Nonsense_W24X rs192813377 1 35226949 [T/C] NM_153212 GJB4 EXON Missense_R32C exm42915 1 35226949 [T/C] NM_153212 GJB4 EXON Missense_R32C rs146378222 1 35226964 [A/G] NM_153212 GJB4 EXON Missense_V37M Variant12361 1 35227008 [D/I] NM_153212 GJB4 EXON 1:35227033-TG 1 35227033 [T/G] NM_153212 GJB4 EXON Missense_C60G rs201860175 1 35227033 [T/G] NM_153212 GJB4 EXON Missense_C60G rs147354864 1 35227062 [C/G] NM_153212 GJB4 EXON Missense_F69L exm42932 1 35227062 [C/G] NM_153212 GJB4 EXON Missense_F69L Variant48249 1 35227075 [A/G] NM_153212 GJB4 EXON Missense_V74M exm42936 1 35227078 [T/C] NM_153212 GJB4 EXON Missense_R75C exm42937 1 35227079 [A/G] NM_153212 GJB4 EXON Missense_R75H rs151088412 1 35227079 [A/G] NM_153212 GJB4 EXON Missense_R75H exm42939 1 35227093 [T/C] NM_153212 GJB4 EXON Nonsense_Q80X rs114429815 1 35227093 [T/C] NM_153212 GJB4 EXON Nonsense_Q80X rs80358210 1 35227108 [A/C] NM_153212 GJB4 EXON Missense_T85P exm42941 1 35227109 [T/C] NM_153212 GJB4 EXON Missense_T85M exm42944 1 35227147 [T/C] NM_153212 GJB4 EXON Missense_R98C rs200602523 1 35227147 [T/C] NM_153212 GJB4 EXON Missense_R98C Variant48252 1 35227225 [T/C] NM_153212 GJB4 EXON Missense_R124W exm42958 1 35227226 [A/G] NM_153212 GJB4 EXON Missense_R124Q rs149110828 1 35227239 [A/G] NM_153212 GJB4 EXON Nonsense_W128X exm42961 1 35227239 [A/G] NM_153212 GJB4 EXON Nonsense_W128X exm42962 1 35227241 [A/G] NM_153212 GJB4 EXON Nonsense_W129X exm42963 1 35227244 [T/C] NM_153212 GJB4 EXON Missense_T130M 1:35227264-T-C 1 35227264 [T/C] NM_153212 GJB4 EXON Missense_F137L 1:35227266-C-A 1 35227266 [A/C] NM_153212 GJB4 EXON Missense_F137L exm42967 1 35227276 [A/G] NM_153212 GJB4 EXON Missense_V141M chr1_35227286 1 35227286 [T/G] NM_153212 GJB4 EXON Missense_G144V 1:35227306-CA 1 35227306 [A/C] NM_153212 GJB4 EXON Missense_R151S 1:35227330-CT 1 35227330 [T/C] NM_153212 GJB4 EXON Missense_P159S exm2251479 1 35227350 [T/C] NM_153212 GJB4 EXON Synonymous_S165S exm42977 1 35227362 [C/G] NM_153212 GJB4 EXON Missense_C169W chr1_35227367 1 35227367 [A/C] NM_153212 GJB4 EXON Missense_H171P rs201339671 1 35227384 [A/G] NM_153212 GJB4 EXON Missense_I177V rs145234213 1 35227390 [T/C] NM_153212 GJB4 EXON Missense_R179W 1:35227390-CT 1 35227390 [T/C] NM_153212 GJB4 EXON Missense_R179W exm42980 1 35227397 [T/C] NM_153212 GJB4 EXON Missense_T181M 1:35227421-T-A 1 35227421 [A/T] NM_153212 GJB4 EXON Missense_F189Y exm42984 1 35227466 [A/C] NM_153212 GJB4 EXON Missense_E204A exm42989 1 35227522 [T/C] NM_153212 GJB4 EXON Missense_R223W 1:35227564-TC 1 35227564 [T/C] NM_153212 GJB4 EXON Missense_Y237H 1:35227625-CT 1 35227625 [T/C] NM_153212 GJB4 EXON Missense_S257L JHU_1.35228039 1 35228040 [T/C] NM_153212 GJB4 EXON Silent rs78592202 1 35229142 [A/G] NM_153212 GJB4 EXON Silent rs7549597 1 35229259 [G/C] NM_153212 GJB4 EXON Silent rs144625927 1 35229329 [T/C] rs79278663 1 35229553 [T/C] rs4653089 1 35238584 [T/C] JHU_1.35239463 1 35239464 [A/G] rs639126 1 35239992 [T/C] rs28539941 1 35240562 [A/G] JHU_1.35240769 1 35240770 [A/G] rs2152681 1 35243730 [T/G] rs1764405 1 35246297 [A/G] rs56260146 1 35247536 [T/C] NM_024009 GJB3 Silent 1:35250397-G-C 1 35250397 [G/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_G12R,Missense_G12R 1:35250398-G-A 1 35250398 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_G12D,Missense_G12D chr1_35250416 1 35250416 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_T18I,Missense_T18I 1:35250419-CT 1 35250419 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_A19V,Missense_A19V Variant48255 1 35250442 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V27M,Missense_V27M exm43007 1 35250457 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R32W,Missense_R32W 1:35250464-T-C 1 35250464 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_L34P,Missense_L34P exm43009 1 35250472 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V37M,Missense_V37M exm43011 1 35250486 [T/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_E41D,Missense_E41D 1:35250488-G-C 1 35250488 [C/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R42P,Missense_R42P rs61732295 1 35250550 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V63I,Missense_V63I exm43016 1 35250550 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V63I,Missense_V63I rs74315317 1 35250619 [A/T] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_C86S,Missense_C86S 1:35250619-T-A 1 35250619 [A/T] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_C86S,Missense_C86S exm43024 1 35250643 [A/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_H94N,Missense_H94N exm43029 1 35250671 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R103H,Missense_R103H exm43030 1 35250674 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R104Q,Missense_R104Q Variant37853 1 35250703 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_A114T,Missense_A114T rs41310442 1 35250720 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Synonymous_N119N,Synonymous_N119N Variant48258 1 35250783 [A/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Synonymous_I140I,Synonymous_I140I Variant15888 1 35250784 [I/D] NM_024009,NM_001005752 GJB3,GJB3 EXON 1:35250842-GA 1 35250842 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R160H,Missense_R160H Variant48259 1 35250860 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_N166S,Missense_N166S 1:35250862-GA 1 35250862 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V167M,Missense_V167M exm43047 1 35250892 [T/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_Y177D,Missense_Y177D rs80297119 1 35250892 [T/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_Y177D,Missense_Y177D rs74315319 1 35250901 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Nonsense_R180X,Nonsense_R180X rs74315318 1 35250910 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_E183K,Missense_E183K exm43048 1 35250910 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_E183K,Missense_E183K exm43051 1 35250943 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_A194T,Missense_A194T rs117385606 1 35250943 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_A194T,Missense_A194T exm43056 1 35250961 [A/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_V200I,Missense_V200I exm1798210 1 35251009 [T/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Nonsense_R216X,Nonsense_R216X ilmnseq_rs727503069 1 35251015 [D/I] NM_024009,NM_001005752 GJB3,GJB3 EXON Variant48265 1 35251030 [A/C] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_P223T,Missense_P223T exm43060 1 35251033 [C/G] NM_024009,NM_001005752 GJB3,GJB3 EXON Missense_R224G,Missense_R224G rs483721 1 35253376 [T/C] rs515834 1 35254548 [T/C] rs4653091 1 35257416 [A/G] 1:35258400-GA 1 35258400 [A/G] rs7526193 1 35259123 [A/G] NM_002060 GJA4 Silent 1:35259800-GA 1 35259800 [A/G] NM_002060 GJA4 EXON Silent 1:35259809-GT 1 35259809 [T/G] NM_002060 GJA4 EXON Silent 1:35260155-GA 1 35260155 [A/G] NM_002060 GJA4 EXON Missense_R114Q exm43084 1 35260202 [A/G] NM_002060 GJA4 EXON Missense_V130I rs61777220 1 35260208 [T/C] NM_002060 GJA4 EXON Missense_R132C 1:35260383-CA 1 35260383 [A/C] NM_002060 GJA4 EXON Missense_A190E 1:35260490-CA 1 35260490 [A/C] NM_002060 GJA4 EXON Missense_L226M exm43100 1 35260527 [A/G] NM_002060 GJA4 EXON Missense_R238Q 1:35260563-CT 1 35260563 [T/C] NM_002060 GJA4 EXON Missense_P250L exm43113 1 35260760 [A/G] NM_002060 GJA4 EXON Missense_G316S exm43114 1 35260769 [T/C] NM_002060 GJA4 EXON Missense_P319S exm43115 1 35260773 [T/C] NM_002060 GJA4 EXON Missense_P320L exm43116 1 35260779 [A/G] NM_002060 GJA4 EXON Missense_R322H rs151235389 1 35260779 [A/G] NM_002060 GJA4 EXON Missense_R322H rs138346250 1 35262344 [A/G] rs564226 1 35265770 [T/G] JHU_1.35266029 1 35266030 [T/C] JHU_1.35267457 1 35267458 [T/C] JHU_1.35269528 1 35269529 [A/G] rs1998175 1 35269529 [A/G] rs6690721 1 35269565 [A/G] rs7547209 1 35270795 [T/G] rs6689695 1 35272080 [T/C] rs76808806 1 35274354 [T/C] rs78784088 1 35275799 [T/C] rs598981 1 35282059 [A/C] rs1407135 1 35282297 [A/G] rs28842290 1 35287559 [T/C] rs7526035 1 35289039 [A/G] JHU_1.35289278 1 35289279 [T/C] rs9426018 1 35294101 [A/G] rs370145755 1 35295331 [T/C] rs6689081 1 35301579 [T/C] rs11264125 1 35302617 [T/C] rs11264139 1 35303369 [A/G] rs12239410 1 35304381 [A/C] JHU_1.35308345 1 35308346 [T/C] rs75165264 1 35308500 [A/G] JHU_1.35308590 1 35308591 [A/G] JHU_1.35309130 1 35309131 [G/C] rs12133839 1 35312243 [T/C] rs12067656 1 35312429 [A/G] rs59912289 1 35314573 [C/G] rs11263900 1 35314674 [A/T] rs12128624 1 35314841 [A/G] rs6703979 1 35315737 [T/C] rs12408762 1 35316358 [T/C] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 EXON Silent,Silent,Silent,Silent rs12076918 1 35316497 [A/G] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 EXON Silent,Silent,Silent,Silent JHU_1.35317366 1 35317367 [A/G] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 EXON Silent,Silent,Silent,Silent JHU_1.35317387 1 35317388 [T/C] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 EXON Silent,Silent,Silent,Silent JHU_1.35317413 1 35317414 [C/G] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 EXON Silent,Silent,Silent,Silent rs57939493 1 35317856 [A/G] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 EXON Silent,Silent,Silent,Silent rs7529736 1 35318368 [A/G] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 EXON Silent,Silent,Silent,Silent rs14103 1 35321242 [A/C] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 EXON Silent,Silent,Silent,Silent 1:35321343-GA 1 35321343 [A/G] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 EXON Missense_A79V,Missense_A79V,Missense_A79V,Missense_A79V 1:35321425-GA 1 35321425 [A/G] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 EXON Missense_R52C,Missense_R52C,Missense_R52C,Missense_R52C rs4653107 1 35322503 [T/C] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 Silent,Silent,Silent,Silent JHU_1.35324634 1 35324635 [G/C] NM_001320261,NM_138428,NM_001164825,NM_001164824 SMIM12,SMIM12,SMIM12,SMIM12 EXON Silent,Silent,Silent,Silent rs79365818 1 35325167 [A/G] NM_001320261,NM_138428,NM_001164825 SMIM12,SMIM12,SMIM12 EXON Silent,Silent,Silent JHU_1.35325488 1 35325489 [T/C] rs4653108 1 35328032 [T/C] rs4653109 1 35328245 [A/G] rs12078956 1 35328576 [G/C] 1:35331859-CA 1 35331859 [A/C] NM_001080418 DLGAP3 EXON Missense_R922L 1:35331897-CA 1 35331897 [A/C] NM_001080418 DLGAP3 EXON Missense_E909D rs12727066 1 35333126 [T/C] NM_001080418 DLGAP3 Silent rs79950652 1 35333258 [A/C] NM_001080418 DLGAP3 Silent exm43164 1 35334283 [T/C] NM_001080418 DLGAP3 EXON Missense_R803Q 1:35334577-AG 1 35334577 [A/G] NM_001080418 DLGAP3 EXON Missense_F705S rs61776347 1 35338115 [A/T] NM_001080418 DLGAP3 Silent JHU_1.35339350 1 35339351 [A/G] NM_001080418 DLGAP3 Silent JHU_1.35340651 1 35340652 [T/C] NM_001080418 DLGAP3 Silent rs4652866 1 35340902 [G/C] NM_001080418 DLGAP3 Silent rs11264126 1 35342095 [A/G] NM_001080418 DLGAP3 Silent rs72657945 1 35342862 [T/C] NM_001080418 DLGAP3 Silent JHU_1.35345526 1 35345527 [A/G] NM_001080418 DLGAP3 Silent rs12141243 1 35346922 [T/C] NM_001080418 DLGAP3 Silent rs75067580 1 35347501 [A/C] NM_001080418 DLGAP3 Silent 1:35351083-AC 1 35351083 [A/C] NM_001080418 DLGAP3 EXON Missense_V637G 1:35351090-TG 1 35351090 [T/G] NM_001080418 DLGAP3 EXON Missense_I635L 1:35351290-CA 1 35351290 [A/C] NM_001080418 DLGAP3 EXON Missense_S568I 1:35351335-CT 1 35351335 [T/C] NM_001080418 DLGAP3 EXON Missense_R553H 1:35351359-GT 1 35351359 [T/G] NM_001080418 DLGAP3 EXON Missense_P545Q 1:35351365-GT 1 35351365 [T/G] NM_001080418 DLGAP3 EXON Missense_P543H 1:35351371-GT 1 35351371 [T/G] NM_001080418 DLGAP3 EXON Missense_P541Q exm43213 1 35351706 [T/G] NM_001080418 DLGAP3 EXON Missense_T523P 1:35351832-CA 1 35351832 [A/C] NM_001080418 DLGAP3 EXON Nonsense_E481X JHU_1.35352148 1 35352149 [T/C] NM_001080418 DLGAP3 Silent JHU_1.35353729 1 35353730 [T/C] NM_001080418 DLGAP3 Silent JHU_1.35354830 1 35354831 [C/G] NM_001080418 DLGAP3 Silent rs12145134 1 35355830 [T/A] NM_001080418 DLGAP3 Silent rs6662980 1 35360078 [A/G] NM_001080418 DLGAP3 Silent JHU_1.35364688 1 35364689 [T/C] NM_001080418 DLGAP3 Silent 1:35365314-GA 1 35365314 [A/G] NM_001080418 DLGAP3 EXON Missense_R448W 1:35365335-CT 1 35365335 [T/C] NM_001080418 DLGAP3 EXON Missense_V441I exm2233245 1 35365779 [T/C] NM_001080418 DLGAP3 EXON Missense_M401I rs140339373 1 35365799 [T/C] NM_001080418 DLGAP3 EXON Missense_G395S 1:35365805-GA 1 35365805 [A/G] NM_001080418 DLGAP3 EXON Missense_R393W JHU_1.35365951 1 35365952 [T/C] NM_001080418 DLGAP3 Silent JHU_1.35368474 1 35368475 [T/C] NM_001080418 DLGAP3 Silent rs10493064 1 35369014 [A/T] NM_001080418 DLGAP3 Silent JHU_1.35369269 1 35369270 [A/G] NM_001080418 DLGAP3 Silent 1:35370035-CT 1 35370035 [T/C] NM_001080418 DLGAP3 EXON Missense_G317D exm43238 1 35370053 [T/C] NM_001080418 DLGAP3 EXON Missense_R311H 1:35370159-CT 1 35370159 [T/C] NM_001080418 DLGAP3 EXON Missense_G276S exm43251 1 35370204 [A/C] NM_001080418 DLGAP3 EXON Missense_W261G exm2273630 1 35370344 [A/G] NM_001080418 DLGAP3 EXON Missense_P214L exm43261 1 35370419 [A/G] NM_001080418 DLGAP3 EXON Missense_A189V 1:35370479-CT 1 35370479 [T/C] NM_001080418 DLGAP3 EXON Missense_R169H 1:35370497-CT 1 35370497 [T/C] NM_001080418 DLGAP3 EXON Missense_R163H exm43267 1 35370549 [T/C] NM_001080418 DLGAP3 EXON Missense_A146T 1:35370693-GT 1 35370693 [T/G] NM_001080418 DLGAP3 EXON Missense_P98T 1:35370717-GT 1 35370717 [T/G] NM_001080418 DLGAP3 EXON Missense_P90T Variant51 1 35370730 [D/I] NM_001080418 DLGAP3 EXON Variant12362 1 35370731 [D/I] NM_001080418 DLGAP3 EXON 1:35370734-CA 1 35370734 [A/C] NM_001080418 DLGAP3 EXON Missense_G84V 1:35370744-CT 1 35370744 [T/C] NM_001080418 DLGAP3 EXON Missense_G81R chr1_35370752 1 35370752 [A/G] NM_001080418 DLGAP3 EXON Missense_A78V 1:35370774-CT 1 35370774 [T/C] NM_001080418 DLGAP3 EXON Missense_V71I 1:35370878-CA 1 35370878 [A/C] NM_001080418 DLGAP3 EXON Missense_G36V 1:35370902-GA 1 35370902 [A/G] NM_001080418 DLGAP3 EXON Missense_A28V Variant48266 1 35370948 [A/G] NM_001080418 DLGAP3 EXON Missense_R13C rs7549466 1 35371946 [A/G] NM_001080418 DLGAP3 Silent JHU_1.35378921 1 35378922 [T/C] NM_001080418 DLGAP3 Silent rs4652869 1 35378934 [T/G] NM_001080418 DLGAP3 Silent JHU_1.35378984 1 35378985 [T/G] NM_001080418 DLGAP3 Silent JHU_1.35379071 1 35379072 [A/T] NM_001080418 DLGAP3 Silent rs6694435 1 35379119 [T/C] NM_001080418 DLGAP3 Silent JHU_1.35380488 1 35380489 [T/C] NM_001080418 DLGAP3 Silent JHU_1.35380569 1 35380570 [A/C] NM_001080418 DLGAP3 Silent JHU_1.35381645 1 35381646 [A/G] NM_001080418 DLGAP3 Silent rs77145467 1 35381646 [A/G] NM_001080418 DLGAP3 Silent JHU_1.35384022 1 35384023 [T/C] NM_001080418 DLGAP3 Silent rs6699355 1 35384605 [T/C] NM_001080418 DLGAP3 Silent exm2268877 1 35384605 [T/C] NM_001080418 DLGAP3 Silent rs12078977 1 35387315 [T/C] NM_001080418 DLGAP3 Silent 1:35388425-T-C 1 35388425 [T/C] NM_001080418 DLGAP3 Silent JHU_1.35389802 1 35389803 [T/G] NM_001080418 DLGAP3 Silent rs35040123 1 35394172 [T/G] NM_001080418 DLGAP3 Silent JHU_1.35394264 1 35394265 [A/G] NM_001080418 DLGAP3 Silent rs10437318 1 35403677 [A/C] JHU_1.35408341 1 35408342 [T/C] JHU_1.35410461 1 35410462 [T/G] rs6681656 1 35419786 [T/C] JHU_1.35425101 1 35425102 [T/C] JHU_1.35426469 1 35426470 [A/G] rs11263859 1 35428428 [T/G] rs147339867 1 35438400 [T/C] rs77320488 1 35440880 [A/G] rs377613346 1 35441078 [A/G] rs78010939 1 35441107 [T/G] rs4072108 1 35444037 [T/C] NR_037869 LOC653160 Silent rs148242021 1 35444951 [A/G] rs142311848 1 35446701 [T/C] exm43298 1 35447598 [C/G] NM_001195156 TMEM35B EXON Missense_V138L 1:35447718-CA 1 35447718 [A/C] NM_001195156 TMEM35B EXON Missense_A98S 1:35450843-CT 1 35450843 [T/C] NM_001195156 TMEM35B EXON Missense_A22T rs6688091 1 35451539 [A/C] 1:35452986-CT 1 35452986 [T/C] NM_007167 ZMYM6 EXON Missense_E1233K rs16837147 1 35452986 [T/C] NM_007167 ZMYM6 EXON Missense_E1233K rs148874863 1 35453058 [A/G] NM_007167 ZMYM6 EXON Missense_R1209C 1:35453058-GA 1 35453058 [A/G] NM_007167 ZMYM6 EXON Missense_R1209C chr1_35453153 1 35453153 [T/C] NM_007167 ZMYM6 EXON Missense_G1177D 1:35453213-CT 1 35453213 [T/C] NM_007167 ZMYM6 EXON Missense_R1157H 1:35453336-AG 1 35453336 [A/G] NM_007167 ZMYM6 EXON Missense_L1116S exm43329 1 35453651 [A/C] NM_007167 ZMYM6 EXON Missense_F1011C exm43335 1 35453771 [T/G] NM_007167 ZMYM6 EXON Missense_N971T variant.2362 1 35453952 [A/G] NM_007167 ZMYM6 EXON Nonsense_Q911X exm43357 1 35454498 [A/C] NM_007167 ZMYM6 EXON Missense_D729Y rs116770727 1 35455735 [A/G] NM_007167 ZMYM6 Silent 1:35457782-AT 1 35457782 [A/T] NM_007167 ZMYM6 Silent exm43361 1 35457895 [T/C] NM_007167 ZMYM6 EXON Missense_V696I 1:35457928-GT 1 35457928 [T/G] NM_007167 ZMYM6 EXON Missense_L685I exm43365 1 35457971 [A/C] NM_007167 ZMYM6 EXON Missense_D670E 1:35460230-T-G 1 35460230 [T/G] NM_007167 ZMYM6 Silent rs57359543 1 35460822 [A/C] NM_007167 ZMYM6 Silent JHU_1.35467032 1 35467033 [T/C] NM_007167 ZMYM6 Silent exm43367 1 35469582 [T/C] NM_007167 ZMYM6 EXON Missense_K660R rs10158256 1 35469582 [T/C] NM_007167 ZMYM6 EXON Missense_K660R variant.2363 1 35470728 [A/C] NM_007167 ZMYM6 Silent exm43368 1 35470798 [T/C] NM_007167 ZMYM6 EXON Missense_S630N exm43374 1 35472659 [G/C] NM_007167 ZMYM6 EXON Missense_S569T rs199688464 1 35472669 [T/C] NM_007167 ZMYM6 EXON Missense_G566S variant.2364 1 35472675 [A/G] NM_007167 ZMYM6 EXON Nonsense_R564X exm43383 1 35474493 [C/G] NM_007167 ZMYM6 EXON Missense_E509Q exm43391 1 35476384 [A/G] NM_007167 ZMYM6 EXON Missense_T439I rs142879653 1 35476384 [A/G] NM_007167 ZMYM6 EXON Missense_T439I 1:35476424-CT 1 35476424 [T/C] NM_007167 ZMYM6 EXON Missense_V426I 1:35476496-GA 1 35476496 [A/G] NM_007167 ZMYM6 EXON Missense_R402C exm43398 1 35476544 [T/C] NM_007167 ZMYM6 EXON Missense_V386M exm43400 1 35476588 [A/G] NM_007167 ZMYM6 EXON Missense_S371F rs147439192 1 35476609 [T/G] NM_007167 ZMYM6 EXON Missense_N364T exm43405 1 35476609 [T/G] NM_007167 ZMYM6 EXON Missense_N364T 1:35478032-CA 1 35478032 [A/C] NM_007167 ZMYM6 EXON Missense_G316C exm43413 1 35478154 [A/G] NM_007167 ZMYM6 EXON Missense_L275P 1:35480311-GA 1 35480311 [A/G] NM_007167 ZMYM6 EXON Missense_T261M 1:35480338-TC 1 35480338 [T/C] NM_007167 ZMYM6 EXON Missense_Q252R rs143135186 1 35480426 [T/C] NM_007167 ZMYM6 EXON Missense_K223E exm43419 1 35480426 [T/C] NM_007167 ZMYM6 EXON Missense_K223E exm43420 1 35480455 [T/C] NM_007167 ZMYM6 EXON Missense_H213R exm43421 1 35480456 [A/G] NM_007167 ZMYM6 EXON Missense_H213Y 1:35480732-TC 1 35480732 [T/C] NM_007167 ZMYM6 EXON Missense_T154A JHU_1.35481455 1 35481456 [T/C] NM_007167 ZMYM6 Silent 1:35485053-TC-T 1 35485053 [D/I] NM_007167 ZMYM6 EXON exm43432 1 35485065 [T/C] NM_007167 ZMYM6 EXON Missense_Y106C exm43435 1 35485128 [A/G] NM_007167 ZMYM6 EXON Missense_A85V rs143550182 1 35485128 [A/G] NM_007167 ZMYM6 EXON Missense_A85V exm43437 1 35485152 [T/C] NM_007167 ZMYM6 EXON Missense_S77N exm43438 1 35485167 [A/G] NM_007167 ZMYM6 EXON Missense_A72V exm43439 1 35485203 [G/C] NM_007167 ZMYM6 EXON Missense_A60G 1:35485999-TG 1 35485999 [T/G] NM_007167 ZMYM6 EXON Missense_N55H rs149416071 1 35486022 [T/G] NM_007167 ZMYM6 EXON Missense_K47T exm43440 1 35486022 [T/G] NM_007167 ZMYM6 EXON Missense_K47T rs10908316 1 35494810 [T/G] NM_007167 ZMYM6 Silent exm1798677 1 35496149 [T/C] NM_007167 ZMYM6 EXON Missense_Q31R variant.2366 1 35496192 [A/G] NM_007167 ZMYM6 EXON Nonsense_Q17X rs138473812 1 35496257 [A/G] NM_007167 ZMYM6 EXON Silent rs200021986 1 35497385 [T/C] NM_007167 ZMYM6 Silent kgp11705169 1 35497529 [A/G] NM_007167 ZMYM6 EXON Silent JHU_1.35500837 1 35500838 [T/C] kgp15841491 1 35503107 [T/G] JHU_1.35513633 1 35513634 [T/A] JHU_1.35516408 1 35516409 [T/C] rs116987179 1 35519429 [A/G] JHU_1.35524976 1 35524977 [T/C] JHU_1.35525746 1 35525747 [A/G] NM_001289088 ZMYM1 Silent JHU_1.35534959 1 35534960 [T/C] NM_001289088 ZMYM1 Silent JHU_1.35545914 1 35545915 [T/C] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.35549571 1 35549572 [T/C] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent rs6425930 1 35556013 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent 1:35559617-GA 1 35559617 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_C10Y,Missense_C10Y,Missense_C10Y,Silent,Silent,Missense_C10Y 1:35559673-GA 1 35559673 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_D29N,Missense_D29N,Missense_D29N,Silent,Silent,Missense_D29N variant.2367 1 35559685 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent var_1_35561494 1 35561494 [T/C] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent 1:35562918-CT 1 35562918 [T/C] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_A57V,Missense_A57V,Missense_A57V,Silent,Silent,Missense_A57V rs2971408 1 35562965 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_V73M,Missense_V73M,Missense_V73M,Silent,Silent,Missense_V73M exm43457 1 35562965 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_V73M,Missense_V73M,Missense_V73M,Silent,Silent,Missense_V73M JHU_1.35567110 1 35567111 [T/C] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent 1:35570014-AG 1 35570014 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_T180A,Missense_T180A,Missense_T180A,Silent,Missense_T105A,Missense_T180A indel.2370 1 35570346 [I/D] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON rs4411101 1 35571417 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.35573842 1 35573843 [T/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent 1:35577511-AG 1 35577511 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_Q367R,Missense_Q348R,Missense_Q367R,Missense_Q7R,Missense_Q292R,Missense_Q367R exm43481 1 35577702 [T/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_V373L,Missense_V354L,Missense_V373L,Missense_V13L,Missense_V298L,Missense_V373L rs74224906 1 35577744 [T/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.35578254 1 35578255 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 Silent,Silent,Silent,Silent,Silent,Silent 1:35578630-CT 1 35578630 [T/C] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_T400M,Missense_T381M,Missense_T400M,Missense_T40M,Missense_T325M,Missense_T400M exm43494 1 35578752 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_K441E,Missense_K422E,Missense_K441E,Missense_K81E,Missense_K366E,Missense_K441E exm43496 1 35578792 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_R454Q,Missense_R435Q,Missense_R454Q,Missense_R94Q,Missense_R379Q,Missense_R454Q exm43497 1 35578846 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_K472R,Missense_K453R,Missense_K472R,Missense_K112R,Missense_K397R,Missense_K472R exm2273631 1 35578909 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_E493G,Missense_E474G,Missense_E493G,Missense_E133G,Missense_E418G,Missense_E493G 1:35579256-GA 1 35579256 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_V609I,Missense_V590I,Missense_V609I,Missense_V249I,Missense_V534I,Missense_V609I 1:35579367-AG 1 35579367 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_I646V,Missense_I627V,Missense_I646V,Missense_I286V,Missense_I571V,Missense_I646V exm43514 1 35579565 [A/C] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_H712N,Missense_H693N,Missense_H712N,Missense_H352N,Missense_H637N,Missense_H712N exm43517 1 35579678 [T/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_F749L,Missense_F730L,Missense_F749L,Missense_F389L,Missense_F674L,Missense_F749L exm43521 1 35579751 [T/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_L774V,Missense_L755V,Missense_L774V,Missense_L414V,Missense_L699V,Missense_L774V exm43523 1 35579797 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_R789Q,Missense_R770Q,Missense_R789Q,Missense_R429Q,Missense_R714Q,Missense_R789Q chr1_35579848 1 35579848 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_Q806R,Missense_Q787R,Missense_Q806R,Missense_Q446R,Missense_Q731R,Missense_Q806R exm43525 1 35579869 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_D813G,Missense_D794G,Missense_D813G,Missense_D453G,Missense_D738G,Missense_D813G 1:35579958-GA 1 35579958 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_A843T,Missense_A824T,Missense_A843T,Missense_A483T,Missense_A768T,Missense_A843T 1:35580046-CT 1 35580046 [T/C] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_T872I,Missense_T853I,Missense_T872I,Missense_T512I,Missense_T797I,Missense_T872I 1:35580283-GATA-G 1 35580283 [I/D] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON 1:35580406-AG 1 35580406 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_K992R,Missense_K973R,Missense_K992R,Missense_K632R,Missense_K917R,Missense_K992R exm43539 1 35580483 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_K1018E,Missense_K999E,Missense_K1018E,Missense_K658E,Missense_K943E,Missense_K1018E 1:35580582-GA 1 35580582 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_G1051S,Missense_G1032S,Missense_G1051S,Missense_G691S,Missense_G976S,Missense_G1051S 1:35580586-G-GGTTG 1 35580586 [D/I] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON exm43548 1 35580706 [A/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_R1092H,Missense_R1073H,Missense_R1092H,Missense_R732H,Missense_R1017H,Missense_R1092H 1:35580746-GT 1 35580746 [T/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Missense_K1105N,Missense_K1086N,Missense_K1105N,Missense_K745N,Missense_K1030N,Missense_K1105N variant.2375 1 35580819 [T/G] NM_001289088,NM_001289089,NM_024772,NM_001289091,NM_001319955,NM_001289090 ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1,ZMYM1 EXON Nonsense_E1130X,Nonsense_E1111X,Nonsense_E1130X,Nonsense_E770X,Nonsense_E1055X,Nonsense_E1130X JHU_1.35590730 1 35590731 [T/G] rs57825352 1 35607864 [T/G] rs6425939 1 35628789 [A/G] rs12064550 1 35635453 [A/C] rs183967450 1 35635645 [T/C] JHU_1.35635813 1 35635814 [T/C] exm2264999 1 35636227 [A/G] rs9783066 1 35644484 [T/C] NR_136702,NR_136703 SFPQ,SFPQ Silent,Silent JHU_1.35644500 1 35644501 [A/T] NR_136702,NR_136703 SFPQ,SFPQ Silent,Silent rs11264112 1 35645343 [A/C] NR_136702,NR_136703 SFPQ,SFPQ Silent,Silent rs10493066 1 35646125 [T/C] NR_136702,NR_136703 SFPQ,SFPQ Silent,Silent rs3738694 1 35648316 [T/C] NR_136702,NR_136703 SFPQ,SFPQ Silent,Silent rs72908970 1 35649970 [A/G] NR_136702,NR_136703,NM_005066 SFPQ,SFPQ,SFPQ EXON Silent,Silent,Silent exm43561 1 35652634 [T/C] NR_136702,NR_136703,NM_005066 SFPQ,SFPQ,SFPQ EXON Silent,Silent,Missense_T652A rs149566818 1 35652646 [T/C] NR_136702,NR_136703,NM_005066 SFPQ,SFPQ,SFPQ EXON Silent,Silent,Missense_V648I rs3738697 1 35652770 [G/C] NR_136702,NR_136703,NM_005066 SFPQ,SFPQ,SFPQ Silent,Silent,Silent JHU_1.35654432 1 35654433 [A/G] NR_136702,NR_136703,NM_005066 SFPQ,SFPQ,SFPQ Silent,Silent,Silent exm-rs11264115 1 35656664 [A/G] NR_136702,NR_136703,NM_005066 SFPQ,SFPQ,SFPQ Silent,Silent,Silent 1:35658418-CGGTGGCTGCTGCGGT-C 1 35658418 [I/D] NR_136702,NR_136703,NM_005066 SFPQ,SFPQ,SFPQ EXON 1:35658439-TG 1 35658439 [T/G] NR_136702,NR_136703,NM_005066 SFPQ,SFPQ,SFPQ EXON Silent,Silent,Missense_Q71P 1:35658542-CT 1 35658542 [T/C] NR_136702,NR_136703,NM_005066 SFPQ,SFPQ,SFPQ EXON Silent,Silent,Missense_G37S JHU_1.35660521 1 35660522 [T/C] JHU_1.35660537 1 35660538 [A/G] JHU_1.35662607 1 35662608 [A/G] rs2138084 1 35664039 [A/G] rs79479366 1 35664271 [A/G] JHU_1.35664413 1 35664414 [A/G] rs150528636 1 35669722 [C/G] rs115160463 1 35670427 [A/T] JHU_1.35670960 1 35670961 [A/G] JHU_1.35673847 1 35673848 [T/C] rs7543044 1 35674311 [A/G] rs925718 1 35675764 [G/C] rs12727254 1 35676566 [A/G] rs12091697 1 35681227 [T/C] rs148109647 1 35686741 [A/G] JHU_1.35687489 1 35687490 [T/A] exm-rs673604 1 35687815 [T/C] rs673604 1 35687815 [T/C] rs139797123 1 35687924 [T/C] JHU_1.35688540 1 35688541 [T/G] rs74944604 1 35689202 [A/C] rs116687160 1 35692260 [A/G] rs190150966 1 35692273 [A/G] rs72657993 1 35696312 [A/G] rs116568668 1 35707181 [T/C] rs142186450 1 35708395 [T/C] JHU_1.35708521 1 35708522 [A/G] rs79791293 1 35708894 [A/T] rs139574974 1 35725232 [A/G] 1:35260238_35260239ins 1 35725839 [D/I] rs75534471 1 35729616 [A/G] rs368921755 1 35730701 [A/G] JHU_1.35735101 1 35735102 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs522821 1 35741663 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs10908390 1 35743797 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs146159226 1 35745095 [T/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent 1:35750667-G-C 1 35750667 [G/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent 1:35751345-A-G 1 35751345 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent JHU_1.35752375 1 35752376 [T/A] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent JHU_1.35757233 1 35757234 [A/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs74698992 1 35761449 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent JHU_1.35767162 1 35767163 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs185682108 1 35767163 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs544621 1 35772867 [A/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs12122296 1 35774615 [C/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent JHU_1.35774614 1 35774615 [C/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs12075713 1 35776603 [T/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs147637035 1 35785369 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs149324741 1 35812408 [T/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent 1:35823681-A-T 1 35823681 [A/T] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs78552371 1 35824123 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent exm43699 1 35824639 [A/C] NM_005095,NM_001350138,NM_001350140,NM_001350139,NR_046659 ZMYM4,ZMYM4,ZMYM4,ZMYM4,ZMYM4-AS1 EXON Missense_L67M,Missense_L35M,Silent,Silent,Silent exm43701 1 35824694 [T/G] NM_005095,NM_001350138,NM_001350140,NM_001350139,NR_046659 ZMYM4,ZMYM4,ZMYM4,ZMYM4,ZMYM4-AS1 EXON Missense_V85G,Missense_V53G,Silent,Silent,Silent exm43702 1 35824706 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139,NR_046659 ZMYM4,ZMYM4,ZMYM4,ZMYM4,ZMYM4-AS1 EXON Missense_N89S,Missense_N57S,Silent,Silent,Silent exm43703 1 35824753 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139,NR_046659 ZMYM4,ZMYM4,ZMYM4,ZMYM4,ZMYM4-AS1 EXON Missense_I105V,Missense_I73V,Silent,Silent,Silent 1:35824848-AC 1 35824848 [A/C] NM_005095,NM_001350138,NM_001350140,NM_001350139,NR_046659 ZMYM4,ZMYM4,ZMYM4,ZMYM4,ZMYM4-AS1 EXON Missense_K136N,Missense_K104N,Silent,Silent,Silent exm2268673 1 35833787 [T/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent exm43727 1 35835984 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_T313A,Missense_T281A,Silent,Silent 1:35836182-CT 1 35836182 [T/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_R379C,Missense_R347C,Missense_R55C,Missense_R55C 1:35836198-TC 1 35836198 [T/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_L384P,Missense_L352P,Missense_L60P,Missense_L60P rs138392768 1 35842448 [T/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs79175478 1 35843841 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent Variant52 1 35846959 [I/D] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON 1:35846991-AG 1 35846991 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_N438S,Missense_N406S,Missense_N114S,Missense_N114S exm43741 1 35847032 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_V452I,Missense_V420I,Missense_V128I,Missense_V128I exm43746 1 35847346 [T/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_T519M,Missense_T487M,Missense_T195M,Missense_T195M rs615315 1 35852521 [T/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent 1:35852734-CT 1 35852734 [T/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_T656I,Missense_T624I,Missense_T332I,Missense_T332I exm1798822 1 35852791 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_H675R,Missense_H643R,Missense_H351R,Missense_H351R exm43764 1 35852842 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_R692H,Missense_R660H,Missense_R368H,Missense_R368H 1:35853056-GA 1 35853056 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_G705D,Missense_G673D,Missense_G381D,Missense_G381D exm43766 1 35853110 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_N723S,Missense_N691S,Missense_N399S,Missense_N399S 1:35853140-AG 1 35853140 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_K733R,Missense_K701R,Missense_K409R,Missense_K409R indel.2376 1 35854643 [D/I] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON JHU_1.35855051 1 35855052 [T/A] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent exm43787 1 35858280 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_G921S,Missense_G889S,Missense_G597S,Missense_G597S rs78359452 1 35861261 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent 1:35862153-AG 1 35862153 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_E971G,Missense_E939G,Missense_E647G,Missense_E647G exm43794 1 35862185 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_V982M,Missense_V950M,Missense_V658M,Missense_V658M rs3768336 1 35862656 [T/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent exm2273632 1 35863134 [G/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_L1063V,Missense_L1031V,Missense_L739V,Missense_L739V rs12040345 1 35864571 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Synonymous_Q1120Q,Synonymous_Q1088Q,Synonymous_Q796Q,Synonymous_Q796Q 1:35865125-GA 1 35865125 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_R1159H,Missense_R1127H,Missense_R835H,Missense_R835H exm43815 1 35870639 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_I1182V,Missense_I1150V,Missense_I858V,Missense_I858V exm43816 1 35870649 [T/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_V1185G,Missense_V1153G,Missense_V861G,Missense_V861G exm43823 1 35870777 [C/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_G1228R,Missense_G1196R,Missense_G904R,Missense_G904R 1:35871034-CT 1 35871034 [T/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_A1254V,Missense_A1222V,Missense_A930V,Missense_A930V exm43827 1 35871036 [G/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_L1255V,Missense_L1223V,Missense_L931V,Missense_L931V JHU_1.35871643 1 35871644 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent rs114920963 1 35873173 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 Silent,Silent,Silent,Silent exm43829 1 35873611 [T/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_R1267C,Missense_R1235C,Missense_R943C,Missense_R943C exm43843 1 35881138 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_V1378I,Missense_V1346I,Missense_V1054I,Missense_V1054I 1:35881179-CA 1 35881179 [A/C] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_F1391L,Missense_F1359L,Missense_F1067L,Missense_F1067L exm1798848 1 35884083 [A/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Missense_D1450G,Missense_D1418G,Missense_D1126G,Missense_D1126G rs1188619 1 35886488 [C/G] NM_005095,NM_001350138,NM_001350140,NM_001350139 ZMYM4,ZMYM4,ZMYM4,ZMYM4 EXON Silent,Silent,Silent,Silent 1:35887716-C-T 1 35887716 [T/C] JHU_1.35891640 1 35891641 [T/C] JHU_1.35895546 1 35895547 [T/C] JHU_1.35896422 1 35896423 [T/G] rs116449176 1 35897750 [T/A] 1:35900514-GA 1 35900514 [A/G] NM_024874 KIAA0319L EXON Missense_P1044L exm43856 1 35900520 [T/C] NM_024874 KIAA0319L EXON Missense_R1042K rs10157108 1 35900725 [A/C] NM_024874 KIAA0319L Silent rs6697994 1 35903834 [C/G] NM_024874 KIAA0319L Silent exm43870 1 35907899 [T/C] NM_024874 KIAA0319L EXON Missense_I940V rs2275247 1 35908451 [T/C] NM_024874 KIAA0319L Silent variant.2379 1 35909762 [T/C] NM_024874 KIAA0319L EXON Missense_T886A 1:35909837-CT 1 35909837 [T/C] NM_024874 KIAA0319L EXON Missense_A861T 1:35909885-CA 1 35909885 [A/C] NM_024874 KIAA0319L EXON Missense_V845F rs139493073 1 35912984 [T/C] NM_024874 KIAA0319L Silent exm1798860 1 35913808 [T/C] NM_024874 KIAA0319L EXON Missense_I827V 1:35913855-AG 1 35913855 [A/G] NM_024874 KIAA0319L EXON Missense_F811S 1:35913871-TC 1 35913871 [T/C] NM_024874 KIAA0319L EXON Missense_R806G exm43885 1 35913889 [T/C] NM_024874 KIAA0319L EXON Missense_V800I 1:35913924-TC 1 35913924 [T/C] NM_024874 KIAA0319L EXON Missense_K788R exm43889 1 35915492 [A/G] NM_024874 KIAA0319L EXON Missense_R777W 1:35916051-TC 1 35916051 [T/C] NM_024874 KIAA0319L EXON Missense_S708G 1:35917393-CT 1 35917393 [T/C] NM_024874 KIAA0319L Silent exm43900 1 35919165 [T/C] NM_024874 KIAA0319L EXON Missense_K636E rs12563006 1 35919461 [T/G] NM_024874 KIAA0319L Silent rs75944591 1 35921764 [C/G] NM_024874 KIAA0319L EXON Synonymous_P502P rs144028651 1 35928179 [A/G] NM_024874 KIAA0319L Silent variant.2381 1 35928313 [T/C] NM_024874 KIAA0319L EXON Synonymous_E401E rs145864834 1 35929205 [T/C] NM_024874 KIAA0319L Silent 1:35932242-CA 1 35932242 [A/C] NM_024874 KIAA0319L EXON Missense_G390W JHU_1.35939373 1 35939374 [T/C] NM_024874 KIAA0319L Silent 1:35940433-CA 1 35940433 [A/C] NM_024874 KIAA0319L EXON Missense_A330S exm43935 1 35940497 [T/G] NM_024874 KIAA0319L EXON Missense_E308D exm43936 1 35944573 [A/G] NM_024874 KIAA0319L EXON Missense_Y303H 1:35944705-CT 1 35944705 [T/C] NM_024874 KIAA0319L EXON Missense_A259T exm43940 1 35944752 [T/C] NM_024874 KIAA0319L EXON Missense_G243D exm1798894 1 35944780 [T/C] NM_024874 KIAA0319L EXON Missense_T234A rs115289223 1 35948618 [T/C] NM_024874 KIAA0319L Silent rs114780918 1 35960537 [A/G] NM_024874 KIAA0319L Silent rs11264164 1 35966914 [T/C] NM_024874 KIAA0319L Silent rs1203148 1 35968899 [A/G] NM_024874 KIAA0319L Silent rs34516999 1 35970643 [A/T] NM_024874 KIAA0319L Silent rs150204348 1 35971846 [A/G] NM_024874 KIAA0319L Silent exm43944 1 35972250 [T/C] NM_024874 KIAA0319L EXON Missense_N210S 1:35972433-GA 1 35972433 [A/G] NM_024874 KIAA0319L EXON Missense_P149L 1:35972529-CT 1 35972529 [T/C] NM_024874 KIAA0319L EXON Missense_R117Q 1:35972568-AG 1 35972568 [A/G] NM_024874 KIAA0319L EXON Missense_M104T 1:35979953-A-G 1 35979953 [A/G] NM_024874 KIAA0319L Silent JHU_1.35979977 1 35979978 [A/C] NM_024874 KIAA0319L Silent rs58496166 1 35980047 [C/G] NM_024874 KIAA0319L Silent rs149843174 1 35981452 [T/G] NM_024874 KIAA0319L Silent JHU_1.35985528 1 35985529 [G/C] NM_024874 KIAA0319L Silent JHU_1.35996369 1 35996370 [T/C] NM_024874 KIAA0319L Silent rs143476256 1 35999141 [A/G] NM_024874 KIAA0319L Silent rs72659623 1 36002505 [A/G] NM_024874 KIAA0319L Silent JHU_1.36011033 1 36011034 [A/G] NM_024874 KIAA0319L Silent rs7523017 1 36015011 [A/G] NM_024874 KIAA0319L Silent rs117586067 1 36017502 [T/C] NM_024874 KIAA0319L Silent exm43966 1 36020085 [T/G] NM_024874 KIAA0319L EXON Missense_K3T 1:36023814-CT 1 36023814 [T/C] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Silent,Missense_A8V,Missense_A8V exm43970 1 36023817 [T/C] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Silent,Missense_A9V,Missense_A9V 1:36026236-GA 1 36026236 [A/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_V145I,Missense_V162I,Missense_V162I exm43990 1 36026317 [A/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_G172S,Missense_G189S,Missense_G189S exm43999 1 36026509 [A/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_V236M,Missense_V253M,Missense_V253M exm2233264 1 36026749 [T/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_V316L,Missense_V333L,Missense_V333L 1:36026758-GA 1 36026758 [A/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_A319T,Missense_A336T,Missense_A336T 1:36026870-GA 1 36026870 [A/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_G356E,Missense_G373E,Missense_G373E exm44009 1 36026872 [T/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_A357S,Missense_A374S,Missense_A374S exm44012 1 36028198 [T/C] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_T433I,Missense_T450I,Missense_T450I exm44036 1 36030912 [T/C] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_P596L,Missense_P613L,Missense_P613L 1:36031059-GA 1 36031059 [A/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_R645H,Missense_R662H,Missense_R662H 1:36031226-CA 1 36031226 [A/C] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_R701S,Missense_R718S,Missense_R718S 1:36031227-GA 1 36031227 [A/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_R701H,Missense_R718H,Missense_R718H 1:36031232-GA 1 36031232 [A/G] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Missense_A703T,Missense_A720T,Missense_A720T 1:36031249-CA 1 36031249 [A/C] NM_001014841,NM_001014839,NM_014284 NCDN,NCDN,NCDN EXON Nonsense_C708X,Nonsense_C725X,Nonsense_C725X rs80210895 1 36035561 [A/G] 1:36036385-G-A 1 36036385 [A/G] exm44075 1 36040566 [G/C] NM_178548 TFAP2E EXON Missense_G176A JHU_1.36040884 1 36040885 [A/G] NM_178548 TFAP2E Silent 1:36043011-CT 1 36043011 [T/C] NM_178548 TFAP2E Silent 1:36043084-CA 1 36043084 [A/C] NM_178548 TFAP2E Silent rs144061804 1 36049978 [A/G] NM_178548 TFAP2E Silent JHU_1.36053641 1 36053642 [T/C] NM_178548 TFAP2E Silent exm44081 1 36053996 [A/G] NM_178548 TFAP2E EXON Missense_G210S exm44087 1 36054078 [T/C] NM_178548 TFAP2E EXON Missense_T237M JHU_1.36055093 1 36055094 [T/C] NM_178548 TFAP2E Silent 1:36055422-T-C 1 36055422 [T/C] NM_178548 TFAP2E Silent 1:36055563-GA 1 36055563 [A/G] NM_178548 TFAP2E EXON Missense_R273Q exm44098 1 36055616 [A/G] NM_178548 TFAP2E EXON Missense_A291T exm44100 1 36055638 [T/C] NM_178548 TFAP2E EXON Missense_S298L 1:36055650-GGTGA-G 1 36055650 [I/D] NM_178548 TFAP2E exm44104 1 36056243 [A/G] NM_178548 TFAP2E EXON Missense_V305M exm44108 1 36056280 [T/C] NM_178548 TFAP2E EXON Missense_T317M exm44110 1 36056327 [A/G] NM_178548 TFAP2E EXON Missense_A333T exm44114 1 36056349 [A/G] NM_178548 TFAP2E EXON Missense_S340N exm44116 1 36060035 [T/C] NM_178548 TFAP2E EXON Missense_R363C exm44117 1 36060036 [A/G] NM_178548 TFAP2E EXON Missense_R363H exm44120 1 36060056 [T/C] NM_178548 TFAP2E EXON Missense_R370C 1:36060080-GA 1 36060080 [A/G] NM_178548 TFAP2E EXON Missense_G378R exm44127 1 36068872 [T/G] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 EXON Missense_S176Y,Missense_S84Y,Missense_S201Y 1:36068932-CT 1 36068932 [T/C] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 EXON Missense_R156Q,Missense_R64Q,Missense_R181Q rs10489761 1 36069746 [T/C] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent exm44137 1 36074906 [A/G] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 EXON Missense_A105V,Missense_A13V,Missense_A130V exm44140 1 36074927 [A/G] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 EXON Missense_A98V,Missense_A6V,Missense_A123V rs78451639 1 36075215 [A/C] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent 1:36079175-A-G 1 36079175 [A/G] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent rs10908401 1 36082395 [A/C] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent rs138244294 1 36083386 [T/C] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent rs960237 1 36085477 [T/C] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent rs75087744 1 36087865 [T/G] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent rs10908402 1 36095920 [T/C] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent JHU_1.36096613 1 36096614 [A/G] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent 1:36096883-GA 1 36096883 [A/G] NM_001199779,NM_001199780,NM_002794 PSMB2,PSMB2,PSMB2 EXON Missense_R68W,Silent,Missense_R93W rs6668101 1 36099200 [A/G] NM_001199779,NM_002794 PSMB2,PSMB2 Silent,Silent JHU_1.36105687 1 36105688 [A/G] NM_001199779,NM_002794 PSMB2,PSMB2 Silent,Silent rs676614 1 36107510 [A/C] rs534436 1 36115139 [A/G] rs114837327 1 36126347 [T/C] rs562386 1 36133210 [T/G] JHU_1.36138188 1 36138189 [T/C] rs140971071 1 36138839 [G/C] rs1538309 1 36141463 [A/G] rs187739501 1 36141689 [T/C] JHU_1.36143233 1 36143234 [A/T] JHU_1.36144230 1 36144231 [T/C] rs636658 1 36151125 [G/C] rs61448230 1 36156070 [A/G] rs7367713 1 36156432 [T/C] JHU_1.36162046 1 36162047 [A/G] rs12563583 1 36167456 [A/C] rs75843821 1 36174165 [A/G] rs192948152 1 36175910 [C/G] rs111587061 1 36176014 [A/G] rs6696354 1 36176509 [T/C] exm44162 1 36181316 [C/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_D203H,Missense_D203H exm1799051 1 36181354 [T/C] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_Q190R,Missense_Q190R 1:36181370-GA 1 36181370 [A/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_R185W,Missense_R185W exm44171 1 36181480 [A/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_A148V,Missense_A148V exm44174 1 36181502 [T/C] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_D141N,Missense_D141N exm44177 1 36181522 [T/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_P134Q,Missense_P134Q 1:36181589-CT 1 36181589 [T/C] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_G112S,Missense_G112S exm44180 1 36181610 [A/C] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_C105G,Missense_C105G exm44187 1 36181807 [A/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_A39V,Missense_A39V exm44188 1 36181813 [C/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_A37G,Missense_A37G exm2273633 1 36181816 [A/C] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_M36R,Missense_M36R 1:36181837-GT 1 36181837 [T/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Missense_P29Q,Missense_P29Q exm44195 1 36181910 [A/G] NM_152374,NM_001348691 C1orf216,C1orf216 EXON Nonsense_Q5X,Nonsense_Q5X rs138276476 1 36191537 [T/C] NM_001330490 CLSPN Silent rs114192896 1 36197224 [T/C] NM_001330490 CLSPN Silent JHU_1.36197223 1 36197224 [T/C] NM_001330490 CLSPN Silent rs6425954 1 36197297 [T/C] NM_001330490 CLSPN Silent rs143494039 1 36199648 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Silent,Silent,Silent variant.2396 1 36202126 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Silent,Nonsense_R1267X,Nonsense_R1331X variant.2397 1 36202510 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN Silent,Silent,Silent exm44205 1 36202585 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_S1280L,Missense_S1216L,Missense_S1280L JHU_1.36202741 1 36202742 [G/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN Silent,Silent,Silent 1:36202963-TG 1 36202963 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_I1242L,Missense_I1178L,Missense_I1242L exm44207 1 36202965 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_A1241V,Missense_A1177V,Missense_A1241V exm44210 1 36203016 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_R1224H,Missense_R1160H,Missense_R1224H 1:36203660-TTTC-T 1 36203660 [D/I] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON exm2275267 1 36204057 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_M1186T,Missense_M1122T,Missense_M1186T exm44220 1 36204178 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_A1146S,Missense_A1082S,Missense_A1146S indel.2398 1 36204966 [I/D] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON 1:36205008-GA 1 36205008 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_P1089L,Missense_P1025L,Missense_P1089L exm1799107 1 36208757 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_K1043T,Missense_K979T,Missense_K1043T 1:36209060-TG 1 36209060 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_D1013A,Missense_D949A,Missense_D1013A 1:36209093-CT 1 36209093 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_R1002Q,Missense_R938Q,Missense_R1002Q variant.2400 1 36211145 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Nonsense_S958X,Nonsense_S894X,Nonsense_S958X exm44239 1 36211151 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_P956L,Missense_P892L,Missense_P956L 1:36212397-TC 1 36212397 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_N942D,Missense_N878D,Missense_N942D exm44249 1 36213640 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_P832L,Missense_P768L,Missense_P832L exm44255 1 36214065 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_G805R,Missense_G741R,Missense_G805R 1:36214079-GA-G 1 36214079 [I/D] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON exm44257 1 36214104 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_Q792K,Missense_Q728K,Missense_Q792K exm44259 1 36214133 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_T782M,Missense_T718M,Missense_T782M exm44266 1 36215075 [T/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_S755R,Missense_S691R,Missense_S755R 1:36215113-TC 1 36215113 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_K743E,Missense_K679E,Missense_K743E 1:36215249-CA 1 36215249 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_S731I,Missense_S667I,Missense_S731I 1:36215324-AG 1 36215324 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_I706T,Missense_I642T,Missense_I706T chr1_36215381 1 36215381 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_I687R,Missense_I623R,Missense_I687R 1:36216978-TTCC-T 1 36216978 [D/I] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON exm1799127 1 36217000 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_G627W,Missense_G563W,Missense_G627W 1:36217053-CT 1 36217053 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_R609K,Missense_R545K,Missense_R609K JHU_1.36219008 1 36219009 [C/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN Silent,Silent,Silent 1:36219354-GA 1 36219354 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_T588I,Silent,Missense_T588I exm44287 1 36219385 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_A578T,Silent,Missense_A578T exm2251506 1 36219455 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Synonymous_N554N,Silent,Synonymous_N554N exm44293 1 36219517 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_R534C,Silent,Missense_R534C rs72902912 1 36220245 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN Silent,Silent,Silent exm44294 1 36225948 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_N525S,Missense_N525S,Missense_N525S 1:36225996-CT 1 36225996 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_R509Q,Missense_R509Q,Missense_R509Q exm44300 1 36226120 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_D468Y,Missense_D468Y,Missense_D468Y exm44301 1 36226161 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_H454R,Missense_H454R,Missense_H454R 1:36226190-CA 1 36226190 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_Q444H,Missense_Q444H,Missense_Q444H 1:36226212-TC 1 36226212 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_N437S,Missense_N437S,Missense_N437S exm44306 1 36226317 [A/T] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_V402E,Missense_V402E,Missense_V402E exm44309 1 36226419 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_T368I,Missense_T368I,Missense_T368I exm44310 1 36226432 [A/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_G364C,Missense_G364C,Missense_G364C exm44316 1 36226755 [C/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_D316H,Missense_D316H,Missense_D316H exm1799139 1 36226782 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_H307Y,Missense_H307Y,Missense_H307Y exm44317 1 36226785 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_Y306H,Missense_Y306H,Missense_Y306H exm1799141 1 36227601 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_R298Q,Missense_R298Q,Missense_R298Q 1:36229986-TC 1 36229986 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_I155V,Missense_I155V,Missense_I155V 1:36230135-TC 1 36230135 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_K105R,Missense_K105R,Missense_K105R exm44336 1 36230196 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_E85K,Missense_E85K,Missense_E85K 1:36230214-TC 1 36230214 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_T79A,Missense_T79A,Missense_T79A exm44344 1 36230839 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_I38T,Missense_I38T,Missense_I38T 1:36230860-CT 1 36230860 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_G31E,Missense_G31E,Missense_G31E chr1_36230873 1 36230873 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_P27S,Missense_P27S,Missense_P27S exm44351 1 36230911 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_N14S,Missense_N14S,Missense_N14S JHU_1.36235129 1 36235130 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN Silent,Silent,Silent exm44354 1 36235452 [A/G] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_S7F,Missense_S7F,Missense_S7F exm44355 1 36235455 [T/C] NM_001330490,NM_001190481,NM_022111 CLSPN,CLSPN,CLSPN EXON Missense_G6D,Missense_G6D,Missense_G6D JHU_1.36235830 1 36235831 [A/G] JHU_1.36237691 1 36237692 [T/C] 1:36237956-G-T 1 36237956 [T/G] JHU_1.36240095 1 36240096 [T/C] rs10908410 1 36242028 [A/G] JHU_1.36246041 1 36246042 [A/G] JHU_1.36246974 1 36246975 [A/T] rs115095549 1 36247164 [T/C] rs12076840 1 36256339 [T/C] JHU_1.36275636 1 36275637 [T/G] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent rs147842378 1 36276202 [C/G] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent rs12044203 1 36276399 [T/C] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent JHU_1.36276756 1 36276757 [A/C] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent rs727005 1 36281336 [A/G] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent rs141717018 1 36287420 [A/C] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent JHU_1.36287770 1 36287771 [A/G] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent 1:36288486-GA 1 36288486 [A/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_R70Q indel.2402 1 36291075 [I/D] NR_146062,NM_017629 AGO4,AGO4 EXON exm44373 1 36291389 [A/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_M200V JHU_1.36294629 1 36294630 [A/C] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent JHU_1.36294631 1 36294632 [A/C] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent exm44379 1 36297090 [T/A] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_Q304L exm44384 1 36297673 [A/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_M378V 1:36298037-GA 1 36298037 [A/G] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent 1:36298045-CA 1 36298045 [A/C] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_T418K variant.2403 1 36298080 [T/C] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Nonsense_R430X exm44393 1 36299761 [A/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_K517R variant.2404 1 36299775 [T/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_A522S indel.2406 1 36301525 [I/D] NR_146062,NM_017629 AGO4,AGO4 EXON exm44395 1 36306879 [A/C] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_H613P exm44404 1 36307020 [A/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_R660H 1:36312466-T-C 1 36312466 [T/C] NR_146062,NM_017629 AGO4,AGO4 Silent,Silent exm44423 1 36319100 [T/C] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Missense_A827V JHU_1.36322436 1 36322437 [C/G] NR_146062,NM_017629 AGO4,AGO4 EXON Silent,Silent JHU_1.36324042 1 36324043 [T/A] rs75271503 1 36336295 [T/G] NM_001317123 AGO1 Silent rs76379471 1 36336722 [A/G] NM_001317123 AGO1 Silent JHU_1.36353270 1 36353271 [A/T] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent exm44431 1 36354031 [C/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 EXON Silent,Missense_A10G,Missense_A10G rs143228790 1 36354167 [T/C] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 EXON Silent,Synonymous_Y55Y,Synonymous_Y55Y rs12727197 1 36362321 [A/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent rs636832 1 36363475 [A/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent rs34002152 1 36365694 [T/C] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent 1:36367780-A-G 1 36367780 [A/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent rs595961 1 36367780 [A/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent 1:36368598-A-G 1 36368598 [A/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent rs145287006 1 36371559 [A/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent JHU_1.36374880 1 36374881 [T/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent JHU_1.36375525 1 36375526 [A/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent 1:36376682-A-T 1 36376682 [A/T] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent exm44475 1 36380971 [A/C] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 EXON Missense_H544P,Missense_H619P,Missense_H619P JHU_1.36382482 1 36382483 [A/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent rs3738356 1 36383716 [T/C] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent rs61751004 1 36384028 [T/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 Silent,Silent,Silent rs41308339 1 36388080 [A/G] NM_001317123,NM_012199,NM_001317122 AGO1,AGO1,AGO1 EXON Silent,Silent,Silent rs11263839 1 36394725 [A/C] rs145835702 1 36396105 [A/G] JHU_1.36403559 1 36403560 [T/C] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36431422 1 36431423 [T/C] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36431805 1 36431806 [A/C] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent 1:36432647-GA 1 36432647 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Silent,Missense_A95T exm1799256 1 36432651 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Silent,Missense_N96S JHU_1.36434504 1 36434505 [T/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent rs141228640 1 36435573 [A/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent rs79186696 1 36439346 [T/C] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent 1:36455750-A-G 1 36455750 [A/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent 1:36469948-CT 1 36469948 [T/C] NM_177422,NM_024852 AGO3,AGO3 EXON Silent,Missense_A222V rs61778761 1 36470971 [T/C] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36471721 1 36471722 [A/T] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent variant.2411 1 36474378 [T/C] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_T60I,Missense_T294I exm44529 1 36474520 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_G68S,Missense_G302S 1:36474521-GA 1 36474521 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_G68D,Missense_G302D exm44537 1 36474632 [A/C] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_Y105S,Missense_Y339S rs142925826 1 36477059 [A/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent 1:36479252-AG 1 36479252 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_T157A,Missense_T391A exm44542 1 36479642 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_I233V,Missense_I467V rs12129064 1 36480873 [T/A] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36484902 1 36484903 [T/A] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent rs274732 1 36488199 [T/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36491023 1 36491024 [A/C] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36496119 1 36496120 [A/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent 1:36497464-A-C 1 36497464 [A/C] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent exm44549 1 36499817 [A/C] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_T311K,Missense_T545K exm44551 1 36499843 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_I320V,Missense_I554V JHU_1.36500215 1 36500216 [C/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36501192 1 36501193 [T/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36501220 1 36501221 [G/C] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36502632 1 36502633 [A/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36503798 1 36503799 [A/T] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36505728 1 36505729 [T/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36506160 1 36506161 [A/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent JHU_1.36506733 1 36506734 [T/G] NM_177422,NM_024852 AGO3,AGO3 Silent,Silent chr1_36521327 1 36521327 [A/G] NM_177422,NM_024852 AGO3,AGO3 EXON Missense_R621H,Missense_R855H rs274741 1 36527329 [A/G] JHU_1.36531889 1 36531890 [A/G] rs491603 1 36532316 [T/C] rs147314566 1 36534640 [A/G] JHU_1.36535751 1 36535752 [A/G] rs115291261 1 36535752 [A/G] rs72904919 1 36538537 [A/G] rs12034450 1 36548997 [A/G] rs3754076 1 36549157 [A/G] JHU_1.36549768 1 36549769 [A/C] NM_014466 TEKT2 Silent 1:36550551-GA 1 36550551 [A/G] NM_014466 TEKT2 EXON Missense_R10Q exm44587 1 36550608 [A/G] NM_014466 TEKT2 EXON Missense_Q29R rs200192498 1 36550637 [T/C] NM_014466 TEKT2 EXON Missense_R39C exm44589 1 36550643 [A/G] NM_014466 TEKT2 EXON Missense_E41K rs12043423 1 36550658 [T/C] NM_014466 TEKT2 EXON Missense_R46C exm44591 1 36550658 [T/C] NM_014466 TEKT2 EXON Missense_R46C variant.2412 1 36550772 [A/G] NM_014466 TEKT2 EXON Nonsense_W55X exm44598 1 36550788 [A/G] NM_014466 TEKT2 EXON Missense_R61G 1:36550810-TC 1 36550810 [T/C] NM_014466 TEKT2 EXON Missense_I68T exm44601 1 36550851 [C/G] NM_014466 TEKT2 EXON Missense_L82V exm44604 1 36550875 [A/G] NM_014466 TEKT2 EXON Missense_D90N indel.2413 1 36550884 [D/I] NM_014466 TEKT2 EXON 1:36551467-GA 1 36551467 [A/G] NM_014466 TEKT2 EXON Missense_A105T exm44606 1 36551494 [A/G] NM_014466 TEKT2 EXON Missense_I114V exm44607 1 36551495 [T/C] NM_014466 TEKT2 EXON Missense_I114T 1:36551522-GA 1 36551522 [A/G] NM_014466 TEKT2 EXON Missense_R123Q rs146319916 1 36551531 [T/C] NM_014466 TEKT2 EXON Missense_I126T 1:36551549-CA 1 36551549 [A/C] NM_014466 TEKT2 EXON Missense_P132H rs113338638 1 36551587 [A/G] NM_014466 TEKT2 EXON Missense_E145K exm44613 1 36551587 [A/G] NM_014466 TEKT2 EXON Missense_E145K exm44616 1 36552305 [A/C] NM_014466 TEKT2 EXON Nonsense_C163X exm44621 1 36552346 [A/G] NM_014466 TEKT2 EXON Missense_R177Q 1:36552426-GA 1 36552426 [A/G] NM_014466 TEKT2 EXON Missense_D204N rs116893490 1 36552436 [A/G] NM_014466 TEKT2 EXON Missense_R207H exm1799343 1 36552436 [A/G] NM_014466 TEKT2 EXON Missense_R207H exm44627 1 36552439 [T/C] NM_014466 TEKT2 EXON Missense_V208A exm44629 1 36552447 [A/G] NM_014466 TEKT2 EXON Missense_G211S exm1799344 1 36552448 [A/G] NM_014466 TEKT2 EXON Missense_G211D rs201352844 1 36552448 [A/G] NM_014466 TEKT2 EXON Missense_G211D exm44632 1 36552585 [T/C] NM_014466 TEKT2 EXON Missense_A229V rs145118386 1 36552770 [T/C] NM_014466 TEKT2 Silent variant.2421 1 36552804 [A/G] NM_014466 TEKT2 Silent exm44640 1 36552858 [T/G] NM_014466 TEKT2 EXON Missense_K267N rs142743253 1 36552858 [T/G] NM_014466 TEKT2 EXON Missense_K267N exm1799351 1 36552901 [A/C] NM_014466 TEKT2 EXON Missense_Q282K rs115386524 1 36552901 [A/C] NM_014466 TEKT2 EXON Missense_Q282K variant.2422 1 36552917 [A/G] NM_014466 TEKT2 Silent exm44644 1 36553092 [A/C] NM_014466 TEKT2 EXON Missense_D303A rs149391093 1 36553129 [A/T] NM_014466 TEKT2 EXON Missense_H315Q 1:36553184-GC 1 36553184 [G/C] NM_014466 TEKT2 Silent exm44649 1 36553338 [A/G] NM_014466 TEKT2 EXON Missense_G337S exm44653 1 36553359 [A/C] NM_014466 TEKT2 EXON Missense_Q344K exm44657 1 36553608 [T/C] NM_014466 TEKT2 EXON Missense_R372W exm44658 1 36553609 [A/G] NM_014466 TEKT2 EXON Missense_R372Q exm44662 1 36553672 [T/C] NM_014466 TEKT2 EXON Missense_T393I exm1799359 1 36553686 [A/G] NM_014466 TEKT2 EXON Missense_T398A exm44665 1 36553689 [A/G] NM_014466 TEKT2 EXON Missense_V399M Variant12363 1 36553706 [D/I] NM_014466 TEKT2 EXON seq-rs112168987 1 36553732 [T/G] NM_014466 TEKT2 EXON Missense_R413L 1:36553732-GT 1 36553732 [T/G] NM_014466 TEKT2 EXON Missense_R413L exm1799360 1 36553752 [A/G] NM_014466 TEKT2 EXON Missense_S420G JHU_1.36553835 1 36553836 [A/C] NM_014466 TEKT2 EXON Silent 1:36554512-GA 1 36554512 [A/G] NM_017825 ADPRHL2 EXON Missense_A3T 1:36554663-GA 1 36554663 [A/G] NM_017825 ADPRHL2 EXON Missense_R53H 1:36554701-GA 1 36554701 [A/G] NM_017825 ADPRHL2 EXON Missense_G66R 1:36554710-CT 1 36554710 [T/C] NM_017825 ADPRHL2 EXON Missense_R69W rs3767703 1 36555758 [T/C] NM_017825 ADPRHL2 Silent exm44691 1 36557307 [T/C] NM_017825 ADPRHL2 EXON Missense_R133C 1:36557376-CT 1 36557376 [T/C] NM_017825 ADPRHL2 EXON Missense_R156W exm44698 1 36557413 [A/G] NM_017825 ADPRHL2 EXON Missense_Q168R 1:36557565-GA 1 36557565 [A/G] NM_017825 ADPRHL2 EXON Missense_A191T exm44709 1 36557619 [A/G] NM_017825 ADPRHL2 EXON Missense_E209K exm44715 1 36558040 [A/G] NM_017825 ADPRHL2 EXON Missense_R240H 1:36558722-CT 1 36558722 [T/C] NM_017825 ADPRHL2 EXON Missense_S276L 1:36558791-AG 1 36558791 [A/G] NM_017825 ADPRHL2 EXON Missense_N299S exm44723 1 36558902 [T/C] NM_017825 ADPRHL2 EXON Missense_P336L exm44725 1 36558968 [T/G] NM_017825 ADPRHL2 EXON Missense_R358L exm44727 1 36558985 [T/G] NM_017825 ADPRHL2 EXON Missense_X364G Variant48267 1 36563249 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_P678L,Missense_P613L exm44736 1 36563279 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_R668Q,Missense_R603Q rs200767854 1 36563348 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_T645I,Missense_T580I 1:36563387-TC 1 36563387 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_N632S,Missense_N567S exm44746 1 36563467 [T/G] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Nonsense_Y605X,Nonsense_Y540X 1:36563511-GA 1 36563511 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_P591S,Missense_P526S rs145553904 1 36563558 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_P575L,Missense_P510L 1:36563580-CT 1 36563580 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_E568K,Missense_E503K exm44763 1 36563583 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_G567S,Missense_G502S 1:36563606-CT 1 36563606 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_G559E,Missense_G494E 1:36563982-GT 1 36563982 [T/G] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_R434S,Missense_R369S rs274754 1 36565617 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 Silent,Silent exm44826 1 36565714 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_I44V,Silent 1:36565737-GA 1 36565737 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_A36V,Silent 1:36565824-GA 1 36565824 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_P7L,Silent exm44841 1 36565837 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 EXON Missense_G3R,Silent rs76608367 1 36571067 [T/C] NM_005202,NM_001294347 COL8A2,COL8A2 Silent,Silent JHU_1.36572312 1 36572313 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 Silent,Silent JHU_1.36574629 1 36574630 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 Silent,Silent JHU_1.36587328 1 36587329 [A/G] NM_005202,NM_001294347 COL8A2,COL8A2 Silent,Silent JHU_1.36592318 1 36592319 [A/G] JHU_1.36593661 1 36593662 [T/G] rs4653160 1 36599547 [T/C] rs11577123 1 36600773 [A/C] rs1408558 1 36601717 [A/C] rs2231318 1 36602943 [T/C] NM_001270895,NM_014408,NM_001270896,NR_073098,NR_073097,NM_001270894,NM_001270897 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm44848 1 36603427 [A/C] NM_001270895,NM_014408,NM_001270896,NR_073098,NR_073097,NM_001270894,NM_001270897 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 EXON Missense_L85F,Missense_L131F,Missense_L85F,Silent,Silent,Missense_L139F,Missense_L65F 1:36603546-TC 1 36603546 [T/C] NM_001270895,NM_014408,NM_001270896,NR_073098,NR_073097,NM_001270894,NM_001270897 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 EXON Missense_S46G,Missense_S92G,Missense_S46G,Silent,Silent,Missense_S100G,Missense_S26G 1:36603727-AG 1 36603727 [A/G] NM_001270895,NM_014408,NM_001270896,NR_073098,NR_073097,NM_001270894,NM_001270897 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:36603758-CT 1 36603758 [T/C] NM_001270895,NM_014408,NM_001270896,NR_073098,NR_073097,NM_001270894,NM_001270897 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:36603794-GA 1 36603794 [A/G] NM_001270895,NM_014408,NM_001270896,NR_073098,NR_073097,NM_001270894,NM_001270897 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:36603824-TC 1 36603824 [T/C] NM_001270895,NM_014408,NM_001270896,NR_073098,NR_073097,NM_001270894,NM_001270897 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.36604756 1 36604757 [T/A] NM_001270895,NM_014408,NM_001270896,NR_073098,NR_073097,NM_001270894,NM_001270897 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.36607287 1 36607288 [T/C] NM_001270895,NM_014408,NM_001270896,NR_073098,NR_073097,NM_001270894,NM_001270897 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79174971 1 36609090 [T/C] NM_001270895,NM_014408,NM_001270896,NR_073098,NR_073097,NM_001270894,NM_001270897 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.36615410 1 36615411 [A/G] NM_001270895 TRAPPC3 Silent JHU_1.36620800 1 36620801 [G/C] NM_001270895 TRAPPC3 Silent JHU_1.36622178 1 36622179 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 Silent,Silent,Silent rs147695318 1 36625426 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 Silent,Silent,Silent rs72661696 1 36625522 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 Silent,Silent,Silent rs272828 1 36625556 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 Silent,Silent,Silent 1:36636583-AG 1 36636583 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R20G,Missense_R20G,Missense_R20G 1:36636623-CA 1 36636623 [A/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_P33H,Missense_P33H,Missense_P33H chr1_36636634 1 36636634 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_P37S,Missense_P37S,Missense_P37S 1:36636661-GA 1 36636661 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_D46N,Missense_D46N,Missense_D46N 1:36636706-TC 1 36636706 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_S61P,Missense_S61P,Missense_S61P 1:36636754-CT 1 36636754 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_P77S,Missense_P77S,Missense_P77S rs2296266 1 36636835 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R104W,Missense_R104W,Missense_R104W exm44878 1 36636835 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R104W,Missense_R104W,Missense_R104W exm44880 1 36636854 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R110Q,Missense_R110Q,Missense_R110Q rs795047 1 36637708 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 Silent,Silent,Silent exm44883 1 36638089 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_E162G,Missense_E162G,Missense_E162G rs117018122 1 36638146 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R181Q,Missense_R181Q,Missense_R181Q exm44890 1 36638146 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R181Q,Missense_R181Q,Missense_R181Q JHU_1.36638205 1 36638206 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R201Q,Missense_R201Q,Missense_R201Q rs148608573 1 36638206 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R201Q,Missense_R201Q,Missense_R201Q exm44894 1 36638206 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R201Q,Missense_R201Q,Missense_R201Q exm44902 1 36639040 [T/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_A234S,Missense_A234S,Missense_A234S exm1799434 1 36640516 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_V253M,Missense_V253M,Silent exm44909 1 36640565 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R269Q,Missense_R269Q,Silent 1:36641905-GA 1 36641905 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R319H,Missense_R319H,Missense_R282H exm44923 1 36642316 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_K418E,Missense_K386E,Missense_K381E rs61737153 1 36642361 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R433W,Missense_R401W,Missense_R396W exm44925 1 36642361 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R433W,Missense_R401W,Missense_R396W chr1_36643589 1 36643589 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_G499S,Missense_G467S,Missense_G462S 1:36643659-GA 1 36643659 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_G522E,Missense_G490E,Missense_G485E exm44941 1 36643685 [A/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R531S,Missense_R499S,Missense_R494S 1:36643725-CT 1 36643725 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_S544L,Missense_S512L,Missense_S507L 1:36643764-CA 1 36643764 [A/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_P557Q,Missense_P525Q,Missense_P520Q 1:36644197-AG 1 36644197 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_K629R,Missense_K597R,Missense_K592R 1:36645126-GA 1 36645126 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_S733N,Missense_S700N,Missense_S695N exm44973 1 36645144 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_N739S,Missense_N706S,Missense_N701S 1:36645268-GT 1 36645268 [T/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_E744D,Missense_E711D,Missense_E706D 1:36645288-CA 1 36645288 [A/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_A751D,Missense_A718D,Missense_A713D exm44977 1 36645291 [A/G] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_R752Q,Missense_R719Q,Missense_R714Q chr1_36645586 1 36645586 [A/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_S811R,Missense_S778R,Missense_S773R exm2233283 1 36645615 [T/C] NM_018067,NM_001286366,NM_001286365 MAP7D1,MAP7D1,MAP7D1 EXON Missense_A821V,Missense_A788V,Missense_A783V rs272817 1 36646491 [A/G] rs147165749 1 36648499 [A/T] rs185659 1 36648925 [A/T] rs11812037 1 36652619 [T/C] rs146111208 1 36653427 [A/G] rs6680302 1 36653540 [A/G] rs522468 1 36653677 [T/G] kgp5651257 1 36653717 [A/G] rs116623926 1 36655346 [T/C] rs72661702 1 36675130 [G/C] rs111757358 1 36675507 [A/G] rs150593728 1 36676392 [T/G] JHU_1.36677653 1 36677654 [A/G] rs117214053 1 36678529 [T/C] rs148967511 1 36679652 [A/G] JHU_1.36689297 1 36689298 [T/C] rs77042343 1 36690554 [A/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent rs114391645 1 36700111 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent rs79259057 1 36705206 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent rs78234538 1 36705925 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent JHU_1.36706985 1 36706986 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent JHU_1.36708751 1 36708752 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent rs11263868 1 36715732 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent JHU_1.36727545 1 36727546 [A/T] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent JHU_1.36736172 1 36736173 [T/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent exm44995 1 36748237 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_R25C,Missense_R25C,Missense_R25C rs6425977 1 36752433 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_A201V,Missense_A201V,Missense_A201V exm45028 1 36752742 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_H304R,Missense_H304R,Missense_H304R 1:36754714-CA 1 36754714 [A/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_T365K,Missense_T365K,Missense_T365K exm45037 1 36754769 [C/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_L383F,Missense_L383F,Missense_L383F exm45038 1 36754784 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_M388I,Missense_M388I,Missense_M388I exm45043 1 36754979 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_M453I,Missense_M453I,Missense_M453I 1:36755016-GA 1 36755016 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_E466K,Missense_E466K,Missense_E466K 1:36755074-GA 1 36755074 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_R485K,Missense_R485K,Missense_R485K 1:36755185-GA 1 36755185 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_R522Q,Missense_R522Q,Missense_R522Q exm45054 1 36755361 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_A581T,Missense_A581T,Missense_A581T JHU_1.36755756 1 36755757 [T/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent exm45057 1 36757052 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_R608H,Missense_R608H,Missense_R608H JHU_1.36757860 1 36757861 [T/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent exm45060 1 36758211 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_G644E,Missense_G644E,Missense_G644E JHU_1.36759001 1 36759002 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent JHU_1.36759002 1 36759003 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent variant.2437 1 36759541 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent JHU_1.36760855 1 36760856 [T/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent rs185363095 1 36761912 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent rs72663432 1 36763796 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent exm2265000 1 36764770 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent rs9659735 1 36765912 [T/C] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent rs61739346 1 36766604 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Synonymous_T807T,Synonymous_T807T,Synonymous_T807T 1:36767212-AG 1 36767212 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 EXON Missense_N853S,Missense_N854S,Missense_N854S JHU_1.36768574 1 36768575 [A/G] NM_001321473,NM_001321471,NM_005119 THRAP3,THRAP3,THRAP3 Silent,Silent,Silent 1:36773415-CT 1 36773415 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_R161W,Missense_R50W exm45110 1 36773761 [G/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_P197R,Missense_P86R 1:36775167-CT 1 36775167 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_R249W,Missense_R138W JHU_1.36777919 1 36777920 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 Silent,Silent exm45127 1 36785343 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_A360V,Missense_A249V exm45128 1 36785393 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_I377V,Missense_I266V 1:36785430-CT 1 36785430 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_T389I,Missense_T278I 1:36785584-CTG-C 1 36785584 [I/D] NM_001162530,NM_024676 SH3D21,SH3D21 EXON exm45145 1 36785787 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_S508L,Missense_S397L 1:36786053-GA 1 36786053 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_E597K,Missense_E486K 1:36786100-TGA-T 1 36786100 [I/D] NM_001162530,NM_024676 SH3D21,SH3D21 EXON 1:36786137-CAA-C 1 36786137 [I/D] NM_001162530,NM_024676 SH3D21,SH3D21 EXON exm45169 1 36786144 [A/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_E627A,Missense_E516A 1:36786173-AG 1 36786173 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_K637E,Missense_K526E variant.2448 1 36786194 [T/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Nonsense_E644X,Nonsense_E533X 1:36786203-GC-G 1 36786203 [D/I] NM_001162530,NM_024676 SH3D21,SH3D21 EXON exm45176 1 36786272 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_L670F,Missense_L559F exm45180 1 36786303 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_Y680C,Missense_Y569C exm45185 1 36786521 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_K714R,Missense_K603R 1:36786545-TC 1 36786545 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_L722P,Missense_L611P exm45187 1 36786568 [T/C] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Missense_R730W,Missense_R619W 1:36786655-AG 1 36786655 [A/G] NM_001162530,NM_024676 SH3D21,SH3D21 Silent,Silent 1:36787903-TC 1 36787903 [T/C] NM_001304762,NR_130899,NM_018166 EVA1B,EVA1B,EVA1B EXON Missense_Y164C,Silent,Missense_Y164C exm45200 1 36788078 [A/C] NM_001304762,NR_130899,NM_018166 EVA1B,EVA1B,EVA1B EXON Missense_G106W,Silent,Missense_G106W 1:36788100-C-G 1 36788100 [C/G] NM_001304762,NR_130899,NM_018166 EVA1B,EVA1B,EVA1B EXON Synonymous_P98P,Silent,Synonymous_P98P 1:36788113-GA 1 36788113 [A/G] NM_001304762,NR_130899,NM_018166 EVA1B,EVA1B,EVA1B EXON Missense_T94M,Silent,Missense_T94M 1:36788245-CT 1 36788245 [T/C] NM_001304762,NR_130899,NM_018166 EVA1B,EVA1B,EVA1B EXON Missense_S50N,Silent,Missense_S50N rs12116935 1 36789546 [A/G] NM_018166 EVA1B EXON Silent JHU_1.36792261 1 36792262 [A/G] 1:36793484-GT 1 36793484 [T/G] 1:36793547-CT 1 36793547 [T/C] 1:36793678-GA 1 36793678 [A/G] 1:36793739-GA 1 36793739 [A/G] JHU_1.36796258 1 36796259 [T/C] JHU_1.36797889 1 36797890 [G/C] 1:36807388-CT 1 36807388 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_A426T,Missense_A426T,Missense_A431T exm2251523 1 36807416 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Synonymous_D416D,Synonymous_D416D,Synonymous_D421D exm45228 1 36807481 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_A395T,Missense_A395T,Missense_A400T chr1_36807492 1 36807492 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_S391F,Missense_S391F,Missense_S396F 1:36807564-GA 1 36807564 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_T367M,Missense_T367M,Missense_T372M 1:36808873-CT 1 36808873 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent exm45253 1 36809737 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_E290K,Missense_E290K,Missense_E295K 1:36809853-CT 1 36809853 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_R251H,Missense_R251H,Missense_R256H rs116161221 1 36810511 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent rs56394568 1 36810816 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent rs10908300 1 36813909 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent 1:36814364-CT 1 36814364 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_E226K,Missense_E226K,Missense_E231K rs12564657 1 36814528 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent JHU_1.36814779 1 36814780 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent rs12131443 1 36815799 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent JHU_1.36816639 1 36816640 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent JHU_1.36817229 1 36817230 [T/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent rs78094204 1 36817349 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent JHU_1.36819825 1 36819826 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent exm45260 1 36819966 [T/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_R208G,Missense_R208G,Missense_R213G 1:36820980-ATCT-A 1 36820980 [D/I] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON exm45283 1 36823881 [T/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_H101N,Missense_H101N,Missense_H106N 1:36824429-GA 1 36824429 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Silent,Silent,Missense_A41V exm45295 1 36826827 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_I36T,Missense_I36T,Missense_I36T exm45302 1 36826905 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 EXON Missense_A10V,Missense_A10V,Missense_A10V rs118037253 1 36831779 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent rs58339532 1 36843422 [T/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent JHU_1.36848824 1 36848825 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent JHU_1.36850742 1 36850743 [G/C] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent JHU_1.36851102 1 36851103 [A/G] NM_001282547,NM_032017,NM_001282546 STK40,STK40,STK40 Silent,Silent,Silent JHU_1.36857036 1 36857037 [A/G] rs142784285 1 36857266 [T/C] exm45311 1 36859483 [T/C] NM_032881 LSM10 EXON Missense_H83R exm1799621 1 36859487 [T/C] NM_032881 LSM10 EXON Missense_V82I exm2251525 1 36859629 [A/C] NM_032881 LSM10 EXON Synonymous_R34R rs4653185 1 36861854 [A/C] NM_032881 LSM10 Silent JHU_1.36862034 1 36862035 [A/G] NM_032881 LSM10 Silent rs6682536 1 36862667 [T/C] NM_032881 LSM10 Silent rs6425986 1 36863523 [A/G] NM_032881 LSM10 EXON Silent rs6696875 1 36867363 [T/C] JHU_1.36870051 1 36870052 [T/C] JHU_1.36870591 1 36870592 [T/C] JHU_1.36874019 1 36874020 [T/G] rs16822823 1 36874242 [A/G] JHU_1.36874568 1 36874569 [T/G] rs116707716 1 36876575 [A/G] JHU_1.36876863 1 36876864 [A/G] rs74904034 1 36877334 [A/G] rs883805 1 36878024 [A/C] rs72919353 1 36878814 [A/C] 1:36883776-TC 1 36883776 [T/C] NM_145047,NM_001330493 OSCP1,OSCP1 EXON Synonymous_K368K,Synonymous_K378K rs17442634 1 36883909 [A/G] NM_145047,NM_001330493 OSCP1,OSCP1 Silent,Silent variant.2454 1 36884587 [T/C] NM_145047,NM_001330493 OSCP1,OSCP1 Silent,Silent exm45337 1 36886095 [T/G] NM_145047,NM_001330493 OSCP1,OSCP1 EXON Missense_T314N,Missense_T324N exm45339 1 36886117 [T/C] NM_145047,NM_001330493 OSCP1,OSCP1 EXON Missense_G307R,Missense_G317R rs2282352 1 36886778 [C/G] NM_145047,NM_001330493 OSCP1,OSCP1 Silent,Silent exm45348 1 36887813 [A/C] NM_145047,NM_001330493 OSCP1,OSCP1 EXON Missense_V253L,Missense_V263L exm45352 1 36888462 [A/G] NM_145047,NM_001330493 OSCP1,OSCP1 EXON Missense_I219T,Missense_I229T exm45356 1 36889025 [A/G] NM_145047,NM_001330493 OSCP1,OSCP1 EXON Missense_R187C,Missense_R197C rs114536365 1 36893510 [T/C] NM_145047,NM_001330493 OSCP1,OSCP1 Silent,Silent exm45359 1 36893930 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Silent,Silent,Nonsense_W221X indel.2456 1 36893953 [I/D] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON exm45360 1 36893968 [A/G] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Silent,Silent,Missense_Y209H exm45368 1 36897459 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Missense_E154K,Missense_E164K,Missense_E154K rs6696986 1 36897803 [A/G] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 Silent,Silent,Silent exm45373 1 36898067 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Missense_T131A,Missense_T141A,Missense_T131A rs144957023 1 36899148 [A/G] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 Silent,Silent,Silent exm45380 1 36904406 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Missense_R73H,Missense_R83H,Missense_R73H exm45382 1 36904409 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Missense_E72G,Missense_E82G,Missense_E72G rs6702784 1 36904720 [A/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 Silent,Silent,Silent JHU_1.36909590 1 36909591 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 Silent,Silent,Silent rs953517 1 36910277 [T/C] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 Silent,Silent,Silent rs10493076 1 36914747 [A/G] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 Silent,Silent,Silent exm45392 1 36915872 [T/G] NM_145047,NM_001330493,NM_206837 OSCP1,OSCP1,OSCP1 EXON Missense_D33E,Missense_D33E,Missense_D33E rs76502678 1 36916165 [A/G] rs372640970 1 36916260 [A/G] rs56246733 1 36916454 [T/C] rs1538634 1 36921371 [T/G] NM_031280 MRPS15 EXON Silent 1:36921408-GA 1 36921408 [A/G] NM_031280 MRPS15 EXON Missense_T252I 1KG_1_36921845 1 36921845 [D/I] NM_031280 MRPS15 EXON 1:36921846-AG-A 1 36921846 [D/I] NM_031280 MRPS15 EXON exm2233289 1 36921853 [A/C] NM_031280 MRPS15 EXON Missense_F191V exm45411 1 36921868 [C/G] NM_031280 MRPS15 EXON Missense_G186R exm45418 1 36921912 [A/C] NM_031280 MRPS15 EXON Missense_R171L exm1799661 1 36921980 [T/C] NM_031280 MRPS15 Silent rs6672645 1 36925157 [T/C] NM_031280 MRPS15 Silent variant.2466 1 36926296 [A/G] NM_031280 MRPS15 EXON Nonsense_R128X 1:36926308-AG 1 36926308 [A/G] NM_031280 MRPS15 EXON Missense_S124P 1:36926332-CT 1 36926332 [T/C] NM_031280 MRPS15 EXON Missense_V116I exm45429 1 36926868 [C/G] NM_031280 MRPS15 EXON Missense_N99K 1:36926900-CT 1 36926900 [T/C] NM_031280 MRPS15 EXON Missense_V89M JHU_1.36927732 1 36927733 [A/G] NM_031280 MRPS15 EXON Synonymous_P69P exm45438 1 36927735 [A/G] NM_031280 MRPS15 EXON Missense_P69S rs115285131 1 36929131 [G/C] NM_031280 MRPS15 Silent 1:36929762-CT 1 36929762 [T/C] NM_031280 MRPS15 EXON Missense_G39S chr1_36929765 1 36929765 [A/G] NM_031280 MRPS15 EXON Missense_W38R rs3806289 1 36929988 [T/C] NM_031280 MRPS15 EXON Silent exm2251528 1 36931973 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Synonymous_A832A,Synonymous_A859A,Silent exm45461 1 36931973 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Synonymous_A832A,Synonymous_A859A,Silent rs146617729 1 36932047 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_E808K,Missense_E835K,Silent exm45467 1 36932062 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_P803S,Missense_P830S,Silent exm1799683 1 36932272 [T/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_P733T,Missense_P760T,Missense_P733T rs78861150 1 36932272 [T/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_P733T,Missense_P760T,Missense_P733T 1:36932412-GA 1 36932412 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_P686L,Missense_P713L,Missense_P686L 1:36932457-CT 1 36932457 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Silent,Missense_R698H,Silent exm45481 1 36932463 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Silent,Missense_M696T,Silent exm45484 1 36932503 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Silent,Missense_G683R,Silent exm45489 1 36933198 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_T640I,Missense_T640I,Missense_T640I exm45494 1 36933431 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_L619S,Missense_L619S,Missense_L619S exm45495 1 36933473 [T/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_Q605P,Missense_Q605P,Missense_Q605P rs3917996 1 36933715 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_Y562H,Missense_Y562H,Missense_Y562H exm45504 1 36933715 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_Y562H,Missense_Y562H,Missense_Y562H rs138156467 1 36933759 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Nonsense_W547X,Nonsense_W547X,Nonsense_W547X exm45507 1 36933759 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Nonsense_W547X,Nonsense_W547X,Nonsense_W547X 1:36933817-AG 1 36933817 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_S528P,Missense_S528P,Missense_S528P rs2275472 1 36934667 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R Silent,Silent,Silent rs3917991 1 36934805 [C/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_D510H,Missense_D510H,Missense_D510H 1:36934823-CT 1 36934823 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_V504M,Missense_V504M,Missense_V504M 1:36935349-CT 1 36935349 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_V460M,Missense_V460M,Missense_V460M exm45526 1 36935360 [T/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_P456H,Missense_P456H,Missense_P456H exm45529 1 36935408 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_R440Q,Missense_R440Q,Missense_R440Q rs3917981 1 36937059 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Synonymous_T420T,Synonymous_T420T,Synonymous_T420T seq-rs606231474 1 36937074 [D/I] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON exm45537 1 36937106 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_E405K,Missense_E405K,Missense_E405K exm45542 1 36937701 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_Q346R,Missense_Q346R,Missense_Q346R seq-rs606231475 1 36937873 [I/D] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON exm45547 1 36937878 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_D320N,Missense_D320N,Missense_D320N 1:36937913-CT 1 36937913 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_R308H,Missense_R308H,Missense_R308H seq-rs606231473 1 36937914 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_R308C,Missense_R308C,Missense_R308C exm45556 1 36938257 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_M235T,Missense_M235T,Missense_M235T exm45559 1 36938269 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_M231T,Missense_M231T,Missense_M231T JHU_1.36938779 1 36938780 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R Silent,Silent,Silent JHU_1.36940606 1 36940607 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R Silent,Silent,Silent rs142999683 1 36940984 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_A119T,Missense_A119T,Missense_A119T exm45576 1 36940995 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_V115A,Missense_V115A,Missense_V115A 1:36941067-TC 1 36941067 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_H91R,Missense_H91R,Missense_H91R rs3917950 1 36941751 [A/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R Silent,Silent,Silent rs3917927 1 36944781 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R Silent,Silent,Silent exm45598 1 36945037 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R EXON Missense_G21R,Missense_G21R,Missense_G21R rs3917922 1 36945713 [T/C] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R Silent,Silent,Silent rs3917916 1 36947196 [T/G] NM_000760,NM_156039,NM_172313 CSF3R,CSF3R,CSF3R Silent,Silent,Silent rs3918004 1 36949436 [A/G] rs3917907 1 36949623 [T/C] rs77684515 1 36951923 [T/A] rs6667450 1 36957831 [T/C] rs11263901 1 36960626 [A/G] rs71651923 1 36961165 [C/G] rs4571935 1 36963878 [A/T] JHU_1.36968645 1 36968646 [T/G] JHU_1.36973066 1 36973067 [T/C] JHU_1.36973089 1 36973090 [T/C] rs76916091 1 36974104 [T/C] rs4653193 1 36976253 [A/G] rs4481816 1 36977811 [C/G] JHU_1.36978756 1 36978757 [T/C] rs148274326 1 36979935 [T/C] rs80108277 1 36980368 [T/C] rs115685965 1 36981635 [T/G] rs11804163 1 36984734 [T/C] rs181066790 1 36985343 [A/C] JHU_1.36988189 1 36988190 [A/G] rs6425991 1 36988601 [A/G] rs12060242 1 36988612 [C/G] rs4576633 1 36990158 [T/G] JHU_1.36991284 1 36991285 [T/C] JHU_1.36991538 1 36991539 [T/C] rs12064910 1 36992058 [A/G] JHU_1.36994858 1 36994859 [T/C] rs78719074 1 36996048 [G/C] rs114682717 1 36996804 [A/C] rs7537473 1 36998140 [A/C] rs7526895 1 37000090 [T/C] rs4503315 1 37000226 [T/G] JHU_1.37000255 1 37000256 [T/C] rs4074399 1 37000433 [T/C] rs10752589 1 37001923 [T/C] rs57170102 1 37002448 [A/G] rs17498436 1 37003273 [T/C] JHU_1.37003485 1 37003486 [T/C] rs79303973 1 37004726 [T/C] JHU_1.37007060 1 37007061 [T/C] JHU_1.37011095 1 37011096 [A/G] rs12072868 1 37013031 [A/G] rs10796886 1 37014811 [T/C] rs2207629 1 37018573 [T/C] JHU_1.37020562 1 37020563 [A/G] JHU_1.37020871 1 37020872 [T/C] JHU_1.37020896 1 37020897 [T/C] JHU_1.37020897 1 37020898 [A/G] JHU_1.37021213 1 37021214 [G/C] JHU_1.37021305 1 37021306 [A/C] JHU_1.37021614 1 37021615 [T/G] JHU_1.37021723 1 37021724 [A/G] rs58452795 1 37021731 [T/C] rs114899594 1 37022019 [T/C] rs2144369 1 37022187 [T/C] rs12729556 1 37023223 [A/G] rs72915038 1 37023989 [A/G] JHU_1.37023988 1 37023989 [A/G] JHU_1.37025238 1 37025239 [A/G] rs11807076 1 37030181 [A/G] rs4026409 1 37033128 [T/C] rs72665836 1 37033773 [A/G] JHU_1.37034662 1 37034663 [T/C] JHU_1.37035939 1 37035940 [T/C] JHU_1.37036549 1 37036550 [A/G] rs12120626 1 37037923 [T/C] JHU_1.37040636 1 37040637 [A/G] JHU_1.37040734 1 37040735 [T/A] rs59499485 1 37041110 [T/C] rs12756353 1 37041313 [A/G] rs6425995 1 37041797 [T/C] rs71651926 1 37042678 [A/G] rs35019018 1 37043022 [T/C] rs7538665 1 37043894 [T/C] JHU_1.37044725 1 37044726 [A/G] JHU_1.37046825 1 37046826 [T/C] JHU_1.37047312 1 37047313 [T/C] JHU_1.37047459 1 37047460 [G/C] rs12409675 1 37049344 [T/C] rs149989014 1 37049396 [T/C] rs1997965 1 37049441 [G/C] JHU_1.37049849 1 37049850 [A/G] JHU_1.37050522 1 37050523 [A/G] rs4653201 1 37050961 [A/G] JHU_1.37051268 1 37051269 [T/C] JHU_1.37053130 1 37053131 [T/C] rs56323322 1 37055513 [A/G] rs7526919 1 37056334 [A/C] rs4653204 1 37058354 [T/C] JHU_1.37063056 1 37063057 [A/G] rs78478518 1 37064467 [T/C] rs76744237 1 37065633 [A/T] JHU_1.37067356 1 37067357 [T/C] rs12063741 1 37070248 [A/G] rs72918759 1 37070552 [A/G] JHU_1.37071229 1 37071230 [A/C] rs4653210 1 37074351 [T/G] rs77948039 1 37076059 [T/C] JHU_1.37079262 1 37079263 [T/C] JHU_1.37081394 1 37081395 [T/C] rs7533162 1 37084522 [A/G] rs72918772 1 37085578 [A/C] rs78267182 1 37085905 [A/G] rs17484585 1 37086039 [T/C] rs2003736 1 37086586 [T/C] rs76683423 1 37090678 [A/C] JHU_1.37091103 1 37091104 [T/C] rs189611012 1 37092841 [T/C] rs1474850 1 37096184 [A/C] rs6702202 1 37096594 [A/G] rs12088630 1 37097286 [A/G] JHU_1.37099743 1 37099744 [T/C] rs150845408 1 37103285 [C/G] rs12411078 1 37108638 [T/C] JHU_1.37115097 1 37115098 [A/T] rs7355025 1 37115263 [A/G] JHU_1.37123262 1 37123263 [T/G] rs219002 1 37126512 [A/G] rs12028002 1 37133501 [A/G] rs12730075 1 37135485 [T/G] rs117713518 1 37136403 [T/C] rs1076773 1 37136423 [T/C] rs218990 1 37136762 [T/G] rs1395457 1 37143732 [T/C] rs11263936 1 37150461 [G/C] JHU_1.37150460 1 37150461 [G/C] rs74545768 1 37153251 [T/C] JHU_1.37153509 1 37153510 [A/G] JHU_1.37154107 1 37154108 [A/G] rs12045634 1 37154831 [T/C] rs589249 1 37162352 [A/G] JHU_1.37162971 1 37162972 [A/C] rs2983118 1 37163878 [A/G] rs631416 1 37164909 [T/C] rs12755038 1 37165467 [T/G] JHU_1.37165882 1 37165883 [T/C] JHU_1.37170939 1 37170940 [A/G] rs117130521 1 37171477 [T/A] rs2983119 1 37171570 [T/C] rs79975005 1 37172202 [A/G] rs4652921 1 37174773 [A/G] JHU_1.37176590 1 37176591 [A/C] rs12063010 1 37178411 [T/C] JHU_1.37181769 1 37181770 [A/G] JHU_1.37185865 1 37185866 [A/T] rs1002656 1 37192741 [T/C] rs16823426 1 37193645 [A/G] JHU_1.37195557 1 37195558 [A/G] rs75060942 1 37195947 [T/C] JHU_1.37195946 1 37195947 [T/C] rs7549591 1 37198352 [T/C] JHU_1.37198866 1 37198867 [A/C] rs72665899 1 37199869 [A/G] rs55720167 1 37200565 [T/C] rs11576073 1 37200680 [A/G] rs478746 1 37204435 [T/C] rs531223 1 37205458 [C/G] JHU_1.37205504 1 37205505 [T/G] JHU_1.37210149 1 37210150 [T/C] rs77300156 1 37211241 [T/G] JHU_1.37214735 1 37214736 [A/G] JHU_1.37214821 1 37214822 [T/C] JHU_1.37215848 1 37215849 [A/C] 1:37218593-T-C 1 37218593 [T/C] JHU_1.37220163 1 37220164 [T/C] rs1472823 1 37220721 [A/G] JHU_1.37221512 1 37221513 [T/G] JHU_1.37223166 1 37223167 [A/C] rs79214997 1 37225865 [T/C] JHU_1.37232612 1 37232613 [T/C] rs79096302 1 37234690 [T/C] rs546462 1 37235621 [T/A] rs12086769 1 37237170 [A/G] rs111969109 1 37237433 [T/C] rs114788360 1 37251629 [T/G] exm2265001 1 37254301 [A/G] rs479779 1 37256063 [A/G] JHU_1.37257930 1 37257931 [T/G] JHU_1.37258041 1 37258042 [A/C] JHU_1.37259636 1 37259637 [T/C] rs76001860 1 37262526 [T/C] NM_000831 GRIK3 EXON Silent rs145552096 1 37263372 [A/G] NM_000831 GRIK3 EXON Silent 1:37267513-CT 1 37267513 [T/C] NM_000831 GRIK3 EXON Missense_R900H 1:37267628-CT 1 37267628 [T/C] NM_000831 GRIK3 EXON Missense_V862M 1:37270538-CT 1 37270538 [T/C] NM_000831 GRIK3 Silent 1:37270560-TC 1 37270560 [T/C] NM_000831 GRIK3 Silent var_1_37270575 1 37270575 [I/D] NM_000831 GRIK3 exm45620 1 37271783 [T/C] NM_000831 GRIK3 EXON Missense_V746I 1:37271906-CT 1 37271906 [T/C] NM_000831 GRIK3 EXON Missense_E705K rs189070916 1 37273760 [G/C] NM_000831 GRIK3 Silent JHU_1.37277284 1 37277285 [A/G] NM_000831 GRIK3 Silent JHU_1.37278576 1 37278577 [T/C] NM_000831 GRIK3 Silent rs57828054 1 37278820 [A/G] NM_000831 GRIK3 Silent JHU_1.37281111 1 37281112 [T/C] NM_000831 GRIK3 Silent rs476227 1 37285123 [A/C] NM_000831 GRIK3 Silent 1:37285421-AG 1 37285421 [A/G] NM_000831 GRIK3 EXON Missense_C597R exm45636 1 37285454 [A/C] NM_000831 GRIK3 EXON Missense_F586V JHU_1.37286255 1 37286256 [T/C] NM_000831 GRIK3 Silent 1:37286752-C-T 1 37286752 [T/C] NM_000831 GRIK3 Silent rs149309489 1 37287568 [A/G] NM_000831 GRIK3 Silent rs77455140 1 37288793 [A/G] NM_000831 GRIK3 Silent rs56121552 1 37290758 [G/C] NM_000831 GRIK3 Silent 1:37291208 1 37291208 [T/C] NM_000831 GRIK3 EXON Missense_A584T 1:37291298-CT 1 37291298 [T/C] NM_000831 GRIK3 EXON Missense_V554I 1:37294183-C-T 1 37294183 [T/C] NM_000831 GRIK3 Silent JHU_1.37294229 1 37294230 [T/C] NM_000831 GRIK3 Silent JHU_1.37296432 1 37296433 [A/G] NM_000831 GRIK3 Silent rs484017 1 37303737 [T/C] NM_000831 GRIK3 Silent rs74064780 1 37306578 [A/G] NM_000831 GRIK3 Silent exm45644 1 37307336 [T/C] NM_000831 GRIK3 Silent 1:37307362-CT 1 37307362 [T/C] NM_000831 GRIK3 EXON Missense_G502D rs115314874 1 37307518 [T/C] NM_000831 GRIK3 EXON Missense_R450Q 1:37307528-CT 1 37307528 [T/C] NM_000831 GRIK3 EXON Missense_V447I JHU_1.37307710 1 37307711 [T/C] NM_000831 GRIK3 Silent rs77969311 1 37309114 [A/G] NM_000831 GRIK3 Silent JHU_1.37310668 1 37310669 [T/G] NM_000831 GRIK3 Silent JHU_1.37310744 1 37310745 [A/G] NM_000831 GRIK3 Silent exm45662 1 37315970 [T/C] NM_000831 GRIK3 EXON Missense_R423Q exm45664 1 37316004 [T/C] NM_000831 GRIK3 EXON Missense_D412N exm45668 1 37319265 [A/G] NM_000831 GRIK3 EXON Missense_T388M 1:37319269-GA 1 37319269 [A/G] NM_000831 GRIK3 EXON Missense_R387W JHU_1.37320966 1 37320967 [T/G] NM_000831 GRIK3 Silent rs904896 1 37320967 [T/G] NM_000831 GRIK3 Silent JHU_1.37321045 1 37321046 [T/C] NM_000831 GRIK3 Silent JHU_1.37322084 1 37322085 [T/C] NM_000831 GRIK3 Silent rs111598546 1 37322438 [A/G] NM_000831 GRIK3 Silent rs74064791 1 37323352 [G/C] NM_000831 GRIK3 Silent 1:37324735-CT 1 37324735 [T/C] NM_000831 GRIK3 EXON Missense_G360S exm45689 1 37325587 [T/C] NM_000831 GRIK3 EXON Missense_R273H exm45691 1 37325609 [T/C] NM_000831 GRIK3 EXON Missense_A266T JHU_1.37325722 1 37325723 [T/C] NM_000831 GRIK3 Silent JHU_1.37326590 1 37326591 [A/G] NM_000831 GRIK3 Silent rs1392744 1 37327225 [T/C] NM_000831 GRIK3 Silent rs543171 1 37327304 [T/C] NM_000831 GRIK3 Silent JHU_1.37329529 1 37329530 [T/C] NM_000831 GRIK3 Silent rs565537 1 37329987 [T/C] NM_000831 GRIK3 Silent JHU_1.37333304 1 37333305 [A/G] NM_000831 GRIK3 Silent JHU_1.37333494 1 37333495 [A/G] NM_000831 GRIK3 Silent rs574214 1 37335085 [A/C] NM_000831 GRIK3 Silent rs3738085 1 37335551 [A/G] NM_000831 GRIK3 Silent rs500468 1 37342257 [A/C] NM_000831 GRIK3 Silent exm45708 1 37346259 [T/G] NM_000831 GRIK3 EXON Missense_T176P 1:37346424-CT 1 37346424 [T/C] NM_000831 GRIK3 EXON Missense_V121I rs115668336 1 37349351 [T/C] NM_000831 GRIK3 Silent rs3820271 1 37349733 [A/C] NM_000831 GRIK3 Silent rs147198764 1 37350538 [A/C] NM_000831 GRIK3 Silent JHU_1.37351686 1 37351687 [T/C] NM_000831 GRIK3 Silent rs3767058 1 37352057 [A/G] NM_000831 GRIK3 Silent JHU_1.37360373 1 37360374 [A/G] NM_000831 GRIK3 Silent rs146178514 1 37362381 [A/G] NM_000831 GRIK3 Silent JHU_1.37369788 1 37369789 [G/C] NM_000831 GRIK3 Silent JHU_1.37374643 1 37374644 [T/A] NM_000831 GRIK3 Silent JHU_1.37375748 1 37375749 [T/C] NM_000831 GRIK3 Silent rs3767066 1 37376913 [T/C] NM_000831 GRIK3 Silent rs552257 1 37378179 [A/G] NM_000831 GRIK3 Silent rs3767067 1 37378645 [A/G] NM_000831 GRIK3 Silent rs3753764 1 37378909 [A/C] NM_000831 GRIK3 Silent rs142220626 1 37379690 [T/C] NM_000831 GRIK3 Silent JHU_1.37388289 1 37388290 [C/G] NM_000831 GRIK3 Silent JHU_1.37388357 1 37388358 [A/G] NM_000831 GRIK3 Silent JHU_1.37391266 1 37391267 [A/G] NM_000831 GRIK3 Silent rs111983613 1 37394098 [A/G] NM_000831 GRIK3 Silent JHU_1.37394097 1 37394098 [A/G] NM_000831 GRIK3 Silent JHU_1.37394491 1 37394492 [A/G] NM_000831 GRIK3 Silent rs116512785 1 37394566 [T/G] NM_000831 GRIK3 Silent rs1334802 1 37396339 [T/C] NM_000831 GRIK3 Silent rs41344852 1 37398177 [C/G] NM_000831 GRIK3 Silent rs3767075 1 37398997 [T/C] NM_000831 GRIK3 Silent rs80110901 1 37401846 [T/C] NM_000831 GRIK3 Silent JHU_1.37401950 1 37401951 [T/C] NM_000831 GRIK3 Silent rs1160752 1 37403412 [A/G] NM_000831 GRIK3 Silent JHU_1.37404204 1 37404205 [T/A] NM_000831 GRIK3 Silent rs76433680 1 37405226 [A/G] NM_000831 GRIK3 Silent JHU_1.37405473 1 37405474 [A/G] NM_000831 GRIK3 Silent rs72917596 1 37405708 [T/C] NM_000831 GRIK3 Silent rs112515214 1 37406600 [A/G] NM_000831 GRIK3 Silent rs554445 1 37407573 [C/G] NM_000831 GRIK3 Silent rs16823687 1 37408081 [A/G] NM_000831 GRIK3 Silent rs3767080 1 37409665 [T/C] NM_000831 GRIK3 Silent rs475292 1 37410008 [T/C] NM_000831 GRIK3 Silent rs3767083 1 37411832 [A/C] NM_000831 GRIK3 Silent rs183229333 1 37412340 [T/C] NM_000831 GRIK3 Silent JHU_1.37412797 1 37412798 [T/C] NM_000831 GRIK3 Silent rs35695661 1 37416881 [T/C] NM_000831 GRIK3 Silent JHU_1.37418980 1 37418981 [A/G] NM_000831 GRIK3 Silent JHU_1.37419028 1 37419029 [T/C] NM_000831 GRIK3 Silent JHU_1.37419510 1 37419511 [T/C] NM_000831 GRIK3 Silent JHU_1.37419713 1 37419714 [A/G] NM_000831 GRIK3 Silent JHU_1.37420034 1 37420035 [A/G] NM_000831 GRIK3 Silent JHU_1.37420131 1 37420132 [T/C] NM_000831 GRIK3 Silent rs507168 1 37420696 [A/C] NM_000831 GRIK3 Silent rs16823713 1 37420811 [A/G] NM_000831 GRIK3 Silent rs471417 1 37422200 [A/C] NM_000831 GRIK3 Silent 1:36957817del304 1 37423419 [D/I] NM_000831 GRIK3 JHU_1.37427138 1 37427139 [T/C] NM_000831 GRIK3 Silent rs77499310 1 37427263 [T/C] NM_000831 GRIK3 Silent JHU_1.37427610 1 37427611 [G/C] NM_000831 GRIK3 Silent rs12140264 1 37428012 [T/A] NM_000831 GRIK3 Silent rs6694575 1 37429134 [A/G] NM_000831 GRIK3 Silent 1:37429240-T-C 1 37429240 [T/C] NM_000831 GRIK3 Silent rs6426003 1 37430266 [A/C] NM_000831 GRIK3 Silent rs6656317 1 37432180 [A/G] NM_000831 GRIK3 Silent rs145565920 1 37438579 [A/G] NM_000831 GRIK3 Silent JHU_1.37438807 1 37438808 [A/G] NM_000831 GRIK3 Silent rs137978246 1 37439607 [T/C] NM_000831 GRIK3 Silent rs12125163 1 37441894 [T/C] NM_000831 GRIK3 Silent rs3820274 1 37444665 [T/C] NM_000831 GRIK3 Silent JHU_1.37447747 1 37447748 [T/A] NM_000831 GRIK3 Silent rs72653513 1 37449737 [A/G] NM_000831 GRIK3 Silent rs114755005 1 37450566 [T/G] NM_000831 GRIK3 Silent JHU_1.37452519 1 37452520 [T/C] NM_000831 GRIK3 Silent rs3767104 1 37455073 [T/C] NM_000831 GRIK3 Silent rs12066663 1 37455479 [A/C] NM_000831 GRIK3 Silent rs12746787 1 37457302 [A/G] NM_000831 GRIK3 Silent rs72653515 1 37457531 [A/G] NM_000831 GRIK3 Silent rs9628638 1 37459950 [A/G] NM_000831 GRIK3 Silent rs4653238 1 37463763 [A/G] NM_000831 GRIK3 Silent JHU_1.37466068 1 37466069 [T/G] NM_000831 GRIK3 Silent rs78970849 1 37466713 [T/C] NM_000831 GRIK3 Silent JHU_1.37468274 1 37468275 [T/C] NM_000831 GRIK3 Silent JHU_1.37472958 1 37472959 [G/C] NM_000831 GRIK3 Silent JHU_1.37473247 1 37473248 [A/C] NM_000831 GRIK3 Silent JHU_1.37474427 1 37474428 [T/C] NM_000831 GRIK3 Silent JHU_1.37475435 1 37475436 [A/C] NM_000831 GRIK3 Silent JHU_1.37475495 1 37475496 [C/G] NM_000831 GRIK3 Silent rs79662898 1 37477530 [A/G] NM_000831 GRIK3 Silent rs12138633 1 37478063 [A/G] NM_000831 GRIK3 Silent rs138787241 1 37482541 [T/C] NM_000831 GRIK3 Silent rs563293 1 37483391 [T/C] NM_000831 GRIK3 Silent rs56189192 1 37485224 [T/C] NM_000831 GRIK3 Silent JHU_1.37486700 1 37486701 [A/G] NM_000831 GRIK3 Silent JHU_1.37488462 1 37488463 [A/G] NM_000831 GRIK3 Silent rs6686296 1 37489380 [T/G] NM_000831 GRIK3 Silent rs821254 1 37496046 [T/A] NM_000831 GRIK3 Silent rs12729305 1 37496914 [T/G] NM_000831 GRIK3 Silent JHU_1.37497312 1 37497313 [A/G] NM_000831 GRIK3 Silent 1:37499649-CA 1 37499649 [A/C] NM_000831 GRIK3 EXON Missense_V21L 1:37499671-CA 1 37499671 [A/C] NM_000831 GRIK3 EXON Missense_W13C rs554706 1 37503599 [T/C] rs79939003 1 37505487 [T/C] rs2859741 1 37509352 [T/C] JHU_1.37510950 1 37510951 [A/G] rs74064883 1 37515052 [T/C] rs640665 1 37517643 [T/C] rs75222674 1 37519062 [A/G] JHU_1.37521550 1 37521551 [A/C] rs550273 1 37525639 [A/G] JHU_1.37525721 1 37525722 [T/C] rs521696 1 37526481 [T/C] rs12067922 1 37529233 [A/G] rs1334792 1 37530824 [A/G] rs6702349 1 37534255 [T/C] rs849942 1 37534313 [T/C] JHU_1.37535151 1 37535152 [A/G] rs72910815 1 37535246 [A/G] JHU_1.37536067 1 37536068 [C/G] rs12077898 1 37536068 [C/G] JHU_1.37536343 1 37536344 [T/C] rs12409105 1 37536344 [T/C] rs16823780 1 37538004 [A/C] JHU_1.37539481 1 37539482 [A/G] rs12031092 1 37539662 [A/T] rs218430 1 37541322 [T/C] rs60730821 1 37543192 [A/G] rs218396 1 37548473 [A/G] JHU_1.37549182 1 37549183 [A/G] JHU_1.37549638 1 37549639 [T/C] JHU_1.37549662 1 37549663 [C/G] rs72653567 1 37550839 [A/G] rs74064900 1 37552730 [A/C] rs140330346 1 37553920 [T/C] rs115577428 1 37557751 [A/G] rs3765424 1 37561389 [T/G] rs849952 1 37561638 [A/G] rs72910849 1 37562417 [T/C] rs3856135 1 37567439 [T/C] JHU_1.37569964 1 37569965 [C/G] rs3845494 1 37570509 [T/C] rs709303 1 37570787 [A/G] JHU_1.37571309 1 37571310 [A/G] JHU_1.37577154 1 37577155 [A/C] exm-rs849961 1 37577214 [A/G] rs79625017 1 37578525 [A/G] rs60688522 1 37580443 [T/C] exm2264822 1 37581516 [A/G] rs10908321 1 37581882 [A/G] rs185999640 1 37582962 [T/C] rs215770 1 37585973 [A/C] rs144951969 1 37590919 [A/G] rs56875765 1 37591172 [A/G] rs28613209 1 37592154 [T/C] rs186658043 1 37592425 [A/C] rs4653246 1 37592493 [G/C] rs11263984 1 37594431 [A/G] rs78228324 1 37596173 [A/G] JHU_1.37599302 1 37599303 [T/C] rs13374658 1 37600522 [A/G] 1:37602138-A-G 1 37602138 [A/G] rs55674657 1 37605127 [A/G] rs215791 1 37606291 [T/C] JHU_1.37607315 1 37607316 [T/C] rs113394532 1 37609580 [A/T] rs12131641 1 37611513 [A/G] JHU_1.37615620 1 37615621 [T/C] rs2884796 1 37617809 [T/C] rs4653252 1 37622070 [A/C] rs115662261 1 37624360 [A/G] rs7518123 1 37637422 [T/G] JHU_1.37638338 1 37638339 [T/G] rs218388 1 37641047 [T/C] rs215837 1 37642025 [A/C] JHU_1.37642157 1 37642158 [A/G] JHU_1.37642791 1 37642792 [T/C] JHU_1.37645692 1 37645693 [T/C] rs370247775 1 37651959 [T/C] rs71640713 1 37654544 [A/G] rs150571 1 37657963 [A/G] rs74744273 1 37658486 [T/C] rs77350145 1 37658974 [T/C] rs215819 1 37663818 [A/G] rs11582873 1 37667554 [A/T] JHU_1.37667648 1 37667649 [A/C] rs144906943 1 37667681 [A/G] rs6681508 1 37683217 [T/G] rs192114489 1 37685778 [T/C] rs61770373 1 37687137 [C/G] JHU_1.37696080 1 37696081 [A/G] JHU_1.37697375 1 37697376 [T/C] rs4653266 1 37699367 [T/G] rs10908325 1 37700681 [A/G] rs75156844 1 37703019 [T/C] rs12140004 1 37704048 [A/G] JHU_1.37704831 1 37704832 [T/C] JHU_1.37706819 1 37706820 [A/G] rs76190653 1 37708335 [A/G] rs872157 1 37716037 [T/C] rs6691915 1 37716718 [A/G] rs2047706 1 37717219 [T/C] rs78612338 1 37723690 [A/G] rs1542885 1 37725041 [T/C] rs59475339 1 37733713 [A/G] JHU_1.37733801 1 37733802 [T/G] rs141334771 1 37737497 [A/G] rs80099516 1 37742158 [A/G] rs114451536 1 37743215 [A/G] rs634378 1 37743943 [T/G] rs113550877 1 37747364 [T/C] rs624650 1 37749227 [A/G] rs301992 1 37752850 [T/C] rs144354305 1 37754881 [A/G] JHU_1.37758232 1 37758233 [T/C] rs72914582 1 37758407 [T/C] JHU_1.37762352 1 37762353 [A/G] rs10908337 1 37765920 [A/G] rs1888695 1 37769074 [T/C] rs16823957 1 37772399 [A/G] rs75812098 1 37778425 [G/C] rs143376850 1 37778976 [A/G] rs11264025 1 37780362 [T/C] rs963295 1 37782841 [A/G] rs77923270 1 37783936 [T/G] rs2026325 1 37784853 [A/G] rs10908340 1 37785527 [A/G] JHU_1.37788893 1 37788894 [T/C] rs7522706 1 37789411 [T/C] rs6692311 1 37791498 [T/C] rs12071013 1 37791745 [A/G] JHU_1.37793975 1 37793976 [A/C] rs142873003 1 37796413 [A/G] rs4653277 1 37796436 [A/G] rs11582151 1 37796608 [A/G] rs11579360 1 37798338 [T/G] JHU_1.37801110 1 37801111 [T/C] JHU_1.37801134 1 37801135 [A/G] 1:37808340-T-C 1 37808340 [T/C] rs727670 1 37809549 [T/G] JHU_1.37812671 1 37812672 [A/G] rs61778186 1 37814215 [T/C] rs16824008 1 37815002 [A/G] rs140726618 1 37815763 [A/G] rs78115923 1 37817784 [A/G] JHU_1.37822256 1 37822257 [T/C] rs139815873 1 37823653 [I/D] rs141645066 1 37824478 [A/G] rs1004766 1 37824508 [A/G] 1:37826150-A-G 1 37826150 [A/G] JHU_1.37828722 1 37828723 [A/G] JHU_1.37829080 1 37829081 [A/C] JHU_1.37852344 1 37852345 [A/G] rs1569661 1 37853334 [A/G] rs142465610 1 37855442 [T/C] rs16824043 1 37855834 [A/G] JHU_1.37855889 1 37855890 [T/A] rs72657736 1 37857030 [C/G] JHU_1.37857832 1 37857833 [A/G] rs2492297 1 37859065 [A/G] rs2745487 1 37859876 [A/G] rs2745486 1 37861046 [A/G] JHU_1.37863378 1 37863379 [A/C] rs876465 1 37864911 [T/C] rs875362 1 37865815 [A/G] rs875361 1 37865954 [A/G] rs2745481 1 37866343 [T/C] rs16824060 1 37867275 [A/G] rs12408726 1 37872070 [T/C] JHU_1.37874018 1 37874019 [A/G] rs35010804 1 37874498 [G/C] rs35607249 1 37877052 [A/G] rs10908348 1 37878610 [A/G] JHU_1.37879153 1 37879154 [A/G] rs76047362 1 37879417 [T/C] rs2811630 1 37882114 [A/G] rs114249840 1 37886113 [T/C] rs4428850 1 37889172 [T/G] rs17462635 1 37891636 [A/G] JHU_1.37894093 1 37894094 [G/C] rs72918989 1 37896496 [A/G] rs117653298 1 37897574 [T/C] rs6682467 1 37898913 [C/G] rs6697572 1 37899035 [A/T] rs10908350 1 37902331 [A/G] rs11264050 1 37906441 [A/G] JHU_1.37907422 1 37907423 [A/T] JHU_1.37908610 1 37908611 [T/C] rs11264055 1 37912389 [T/C] rs115113183 1 37912890 [A/C] rs11580278 1 37913007 [T/C] rs2484556 1 37913283 [T/C] rs11264057 1 37914917 [T/G] JHU_1.37915427 1 37915428 [T/C] rs2282256 1 37920683 [G/C] NR_038842 LINC01137 EXON Silent JHU_1.37921020 1 37921021 [T/G] NR_038842 LINC01137 EXON Silent rs118077121 1 37922648 [T/A] NR_038842 LINC01137 Silent rs2660569 1 37922859 [T/C] NR_038842 LINC01137 Silent rs140002215 1 37930674 [A/G] NR_038842 LINC01137 Silent JHU_1.37936988 1 37936989 [G/C] NR_038842 LINC01137 Silent rs116170704 1 37938270 [C/G] NR_038842 LINC01137 Silent rs114750052 1 37938388 [A/G] NR_038842 LINC01137 Silent rs6681785 1 37939094 [T/C] NR_038842 LINC01137 Silent rs2492301 1 37939173 [T/C] NR_038842 LINC01137 Silent exm45757 1 37941192 [T/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_P32L,Missense_P32L 1:37941362-GA 1 37941362 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_G89R,Missense_G89R exm45776 1 37941396 [T/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_P100L,Missense_P100L exm45778 1 37941464 [T/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_P123S,Missense_P123S exm45789 1 37945920 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_R158Q,Missense_R158Q exm45791 1 37945956 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_R170Q,Missense_R170Q 1:37947202-AG 1 37947202 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_D195G,Missense_D195G exm45796 1 37947235 [A/T] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_K206M,Missense_K206M chr1_37947270 1 37947270 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_G218S,Missense_G218S exm45802 1 37947336 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Silent,Missense_V240M,Missense_V240M 1:37948071-GA 1 37948071 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Synonymous_G11G,Synonymous_G285G,Synonymous_G285G 1:37948128-GA 1 37948128 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Synonymous_Q30Q,Synonymous_Q304Q,Synonymous_Q304Q exm45818 1 37948140 [T/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Synonymous_Y34Y,Synonymous_Y308Y,Synonymous_Y308Y 1:37948256-GA 1 37948256 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A Silent,Silent,Silent 1:37948302-GA 1 37948302 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A Silent,Silent,Silent exm45827 1 37948449 [A/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Missense_P72H,Missense_P346H,Missense_P346H 1:37948637-GA 1 37948637 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Missense_G135R,Missense_G409R,Missense_G409R exm45852 1 37948886 [A/G] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Missense_G218S,Missense_G492S,Missense_G492S exm45866 1 37949180 [T/C] NM_001323551,NM_001323550,NM_025079 ZC3H12A,ZC3H12A,ZC3H12A EXON Missense_L316F,Missense_L590F,Missense_L590F JHU_1.37951174 1 37951175 [G/C] rs215206 1 37951754 [T/C] JHU_1.37952297 1 37952298 [T/C] rs142406843 1 37952919 [A/G] rs77163536 1 37956161 [A/G] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Silent,Silent,Silent,Silent,Silent,Silent rs6700586 1 37957376 [A/G] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Silent,Silent,Silent,Silent,Silent,Silent exm-rs9253 1 37958813 [G/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Silent,Silent,Silent,Silent,Silent,Silent rs144395090 1 37959807 [A/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.37961320 1 37961321 [A/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 Silent,Silent,Silent,Silent,Silent,Silent 1:37964765-A-T 1 37964765 [A/T] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 Silent,Silent,Silent,Silent,Silent,Silent rs181805677 1 37964826 [T/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 Silent,Silent,Silent,Silent,Silent,Silent rs72657771 1 37964998 [T/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.37965902 1 37965903 [T/A] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 Silent,Silent,Silent,Silent,Silent,Silent exm45881 1 37967549 [T/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Missense_N130S,Missense_N130S,Silent,Silent,Silent,Missense_N130S JHU_1.37968167 1 37968168 [T/G] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 Silent,Silent,Silent,Silent,Silent,Silent 1:37975135-TC 1 37975135 [T/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Missense_N72S,Missense_N72S,Silent,Silent,Silent,Missense_N72S 1:37979117-CT 1 37979117 [T/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Missense_R38Q,Missense_R38Q,Silent,Silent,Silent,Missense_R38Q JHU_1.37980299 1 37980300 [A/C] NM_001270876,NM_022756,NR_073091,NR_073092,NR_073090,NM_001270875 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Synonymous_R16R,Synonymous_R16R,Silent,Silent,Silent,Synonymous_R16R JHU_1.37980475 1 37980476 [T/C] JHU_1.37981202 1 37981203 [T/G] rs147085232 1 37993463 [T/C] rs7545493 1 37996750 [A/C] rs12119795 1 37999227 [T/C] rs7515306 1 38000185 [A/G] NM_024700 SNIP1 EXON Silent 1:38003382-AC 1 38003382 [A/C] NM_024700 SNIP1 EXON Missense_D386E exm45902 1 38003384 [T/C] NM_024700 SNIP1 EXON Missense_D386N exm45905 1 38003422 [A/G] NM_024700 SNIP1 EXON Missense_S373L newrs150740046 1 38005758 [A/C] NM_024700 SNIP1 EXON Missense_R309L 1:38006041-CT 1 38006041 [T/C] NM_024700 SNIP1 EXON Missense_E215K exm45917 1 38006105 [A/C] NM_024700 SNIP1 EXON Missense_N193K exm1800715 1 38006116 [A/G] NM_024700 SNIP1 EXON Missense_R190C rs181996868 1 38006116 [A/G] NM_024700 SNIP1 EXON Missense_R190C exm45921 1 38006163 [A/G] NM_024700 SNIP1 EXON Missense_A174V exm45925 1 38006254 [A/G] NM_024700 SNIP1 EXON Missense_R144W exm2233306 1 38006259 [T/C] NM_024700 SNIP1 EXON Missense_R142K exm45931 1 38006337 [T/C] NM_024700 SNIP1 EXON Missense_R116Q exm45932 1 38006338 [A/G] NM_024700 SNIP1 EXON Missense_R116W rs139950676 1 38006338 [A/G] NM_024700 SNIP1 EXON Missense_R116W exm45934 1 38006352 [T/C] NM_024700 SNIP1 EXON Missense_R111H exm45935 1 38006353 [A/G] NM_024700 SNIP1 EXON Missense_R111C rs185983112 1 38010158 [A/G] NM_024700 SNIP1 Silent rs114632622 1 38011805 [C/G] NM_024700 SNIP1 Silent 1:38018291-AG 1 38018291 [A/G] NM_024700 SNIP1 EXON Synonymous_S94S 1:38019619-CA 1 38019619 [A/C] NM_024700 SNIP1 EXON Missense_R71L exm45954 1 38019800 [G/C] NM_024700 SNIP1 EXON Missense_G11R 1:38023291-TG 1 38023291 [T/G] NM_003462 DNALI1 EXON Missense_C57G exm45970 1 38023338 [A/G] NM_003462 DNALI1 EXON Missense_I72M variant.2483 1 38023342 [A/C] NM_003462 DNALI1 EXON Missense_P74T variant.2484 1 38023351 [T/G] NM_003462 DNALI1 Silent rs142998293 1 38024487 [T/C] NM_003462 DNALI1 Silent exm45974 1 38024964 [T/G] NM_003462 DNALI1 EXON Missense_Q88H 1:38027221-GA 1 38027221 [A/G] NM_003462 DNALI1 EXON Missense_R154Q exm45986 1 38027235 [A/G] NM_003462 DNALI1 EXON Missense_M159V exm45992 1 38027286 [A/G] NM_003462 DNALI1 EXON Missense_M176V exm45993 1 38027317 [A/T] NM_003462 DNALI1 EXON Missense_K186M exm46001 1 38027737 [A/C] NM_003462 DNALI1 EXON Missense_K211T exm46007 1 38027796 [A/C] NM_003462 DNALI1 EXON Missense_K231Q exm46008 1 38027815 [A/G] NM_003462 DNALI1 EXON Missense_Q237R variant.2489 1 38027835 [T/C] NM_003462 DNALI1 EXON Nonsense_Q244X rs6619 1 38030696 [T/C] NM_003462 DNALI1 EXON Silent JHU_1.38030705 1 38030706 [T/C] NM_003462 DNALI1 EXON Silent 1:38032482-GA 1 38032482 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R792C,Missense_R724C,Missense_R541C exm46027 1 38032580 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_P759L,Missense_P691L,Missense_P508L exm46034 1 38033308 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_S738L,Missense_S670L,Missense_S487L 1:38033342-GA 1 38033342 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R727W,Missense_R659W,Missense_R476W exm46037 1 38033930 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_F701L,Missense_F633L,Missense_F450L rs115941022 1 38034069 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent variant.2491 1 38034447 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent 1:38034714-TC 1 38034714 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_I604V,Missense_I536V,Missense_I353V chr1_38034732 1 38034732 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R598W,Missense_R530W,Missense_R347W exm46053 1 38034737 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R596Q,Missense_R528Q,Missense_R345Q variant.2492 1 38034738 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Nonsense_R596X,Nonsense_R528X,Nonsense_R345X exm46056 1 38034836 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_T563I,Missense_T495I,Missense_T312I rs10908355 1 38035286 [T/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm2251558 1 38038388 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm46062 1 38039997 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R523W,Missense_R455W,Missense_R272W 1:38040045-CT 1 38040045 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_D507N,Missense_D439N,Missense_D256N indel.2493 1 38040058 [I/D] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 1:38040113-T-A 1 38040113 [T/A] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm46066 1 38040285 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R496Q,Missense_R428Q,Missense_R245Q exm46068 1 38040333 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_I480T,Missense_I412T,Missense_I229T 1:38040367-CA 1 38040367 [A/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_A469S,Missense_A401S,Missense_A218S exm2251559 1 38040392 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Synonymous_D460D,Synonymous_D392D,Synonymous_D209D 1:38041272-CT 1 38041272 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R424Q,Missense_R356Q,Missense_R173Q newrs148032409 1 38041298 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Synonymous_V415V,Synonymous_V347V,Synonymous_V164V variant.2496 1 38042024 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm46076 1 38042043 [A/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_A410S,Missense_A342S,Missense_A159S JHU_1.38043558 1 38043559 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent 1:38047934-GA 1 38047934 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R267W,Missense_R267W,Missense_R84W 1:38048459-TC 1 38048459 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_T239A,Missense_T239A,Missense_T56A exm46086 1 38048473 [G/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_S234C,Missense_S234C,Missense_S51C exm46087 1 38048504 [T/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_L224I,Missense_L224I,Missense_L41I variant.2498 1 38049463 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm46093 1 38049499 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_Q202R,Missense_Q202R,Missense_Q19R exm46094 1 38049504 [G/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_K200N,Missense_K200N,Missense_K17N rs7535432 1 38051585 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent exm46099 1 38052928 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_E185K,Missense_E185K,Silent 1:38052929-CA-C 1 38052929 [I/D] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON chr1_38052942 1 38052942 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R180H,Missense_R180H,Silent 1:38056394-CA 1 38056394 [A/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_M99I,Missense_M99I,Silent exm46112 1 38058381 [A/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_P59L,Missense_P59L,Silent 1:38058404-GT 1 38058404 [T/G] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_N51K,Missense_N51K,Silent exm46116 1 38059364 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R50G,Missense_R50G,Silent exm46123 1 38059416 [T/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_M32I,Missense_M32I,Silent 1:38059444-CA 1 38059444 [A/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 EXON Missense_R23L,Missense_R23L,Silent JHU_1.38059878 1 38059879 [A/C] NM_001323623,NM_013285,NM_001323624 GNL2,GNL2,GNL2 Silent,Silent,Silent rs146754929 1 38061669 [T/C] JHU_1.38064173 1 38064174 [T/C] rs118015605 1 38067482 [T/C] JHU_1.38067551 1 38067552 [T/G] rs192291911 1 38069249 [G/C] rs7514254 1 38069978 [A/G] rs79760013 1 38077559 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Silent,Silent,Silent,Silent rs4652964 1 38078300 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Silent,Silent,Silent,Silent 1:38078500-CT 1 38078500 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_R240Q,Missense_R177Q,Missense_R240Q,Missense_R213Q 1:38078521-TC 1 38078521 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_K233R,Missense_K170R,Missense_K233R,Missense_K206R exm46136 1 38078561 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_R220W,Missense_R157W,Missense_R220W,Missense_R193W JHU_1.38078976 1 38078977 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent exm46147 1 38079393 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_R203K,Silent,Missense_R203K,Missense_R176K 1:38079448-CA 1 38079448 [A/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_G185W,Silent,Missense_G185W,Missense_G158W 1:38079472-GA 1 38079472 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_R177C,Silent,Missense_R177C,Missense_R150C 1:38079496-GA 1 38079496 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_R169W,Silent,Missense_R169W,Missense_R142W 1:38079517-TG 1 38079517 [T/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_K162Q,Silent,Missense_K162Q,Missense_K135Q exm1800826 1 38079537 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_P155L,Silent,Missense_P155L,Missense_P128L exm46153 1 38079563 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Synonymous_A146A,Silent,Synonymous_A146A,Synonymous_A119A rs12039431 1 38082122 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent exm46163 1 38082222 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_V74I,Missense_V74I,Missense_V74I,Missense_V47I 1:38082290-TC 1 38082290 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_N51S,Missense_N51S,Missense_N51S,Missense_N24S exm46165 1 38082327 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_A39T,Missense_A39T,Missense_A39T,Missense_A12T rs12023270 1 38086578 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent rs151059857 1 38086874 [G/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent rs112998422 1 38087046 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent JHU_1.38090345 1 38090346 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent rs4074961 1 38092723 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent exm46170 1 38095274 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 EXON Synonymous_S20S,Synonymous_S20S,Synonymous_S20S,Silent rs58722170 1 38096421 [C/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent JHU_1.38096428 1 38096429 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent rs11589571 1 38096994 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent rs56318254 1 38097430 [T/C] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent rs4233215 1 38098036 [A/G] NM_001038633,NM_001242910,NM_001242908,NM_001242909 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent rs11585920 1 38100920 [A/G] rs10796913 1 38105998 [G/C] rs6426027 1 38107226 [T/A] rs4653311 1 38109157 [A/G] rs7552071 1 38109752 [T/C] JHU_1.38112793 1 38112794 [A/G] rs11264081 1 38117142 [T/C] rs34386394 1 38117597 [A/G] rs12125759 1 38120004 [T/C] rs11264082 1 38122012 [A/G] JHU_1.38125188 1 38125189 [T/C] rs76616810 1 38126486 [T/C] rs6687329 1 38127154 [A/G] rs80278059 1 38130941 [T/C] JHU_1.38132045 1 38132046 [T/C] rs117905656 1 38132404 [T/C] rs10908367 1 38134606 [A/C] exm2265002 1 38135687 [A/G] rs10752601 1 38136069 [T/C] JHU_1.38137763 1 38137764 [A/C] 1:38139086-C-T 1 38139086 [T/C] rs75476635 1 38140209 [A/C] rs7549510 1 38144301 [A/C] JHU_1.38148122 1 38148123 [T/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs539585 1 38148123 [T/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.38148183 1 38148184 [A/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs684260 1 38148765 [A/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Missense_Y279H,Silent,Silent,Silent,Silent,Silent,Missense_Y216H,Missense_Y216H,Silent,Missense_Y216H,Silent,Silent,Missense_Y278H,Silent,Silent,Silent,Missense_Y216H,Missense_Y216H,Silent,Silent JHU_1.38148784 1 38148785 [G/C] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Missense_C272S,Silent,Silent,Silent,Silent,Silent,Missense_C209S,Missense_C209S,Silent,Missense_C209S,Silent,Silent,Missense_C271S,Silent,Silent,Silent,Missense_C209S,Missense_C209S,Silent,Silent exm46182 1 38148833 [A/C] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm46184 1 38149026 [T/C] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Synonymous_P244P,Missense_R180Q,Missense_R243Q,Missense_R243Q,Missense_R242Q,Missense_R180Q,Synonymous_P181P,Synonymous_P181P,Missense_R180Q,Synonymous_P181P,Missense_R180Q,Missense_R242Q,Synonymous_P243P,Missense_R180Q,Missense_R180Q,Missense_R242Q,Synonymous_P181P,Synonymous_P181P,Missense_R180Q,Missense_R180Q rs686083 1 38149193 [T/C] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.38150864 1 38150865 [T/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115778556 1 38151642 [A/C] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm46188 1 38152078 [A/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Nonsense_R171X,Nonsense_R108X,Nonsense_R171X,Nonsense_R171X,Nonsense_R170X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X,Nonsense_R170X,Nonsense_R170X,Nonsense_R108X,Nonsense_R108X,Nonsense_R170X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X,Nonsense_R108X 1:38155287-CT 1 38155287 [T/C] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Missense_G152E,Missense_G89E,Missense_G152E,Missense_G152E,Missense_G151E,Missense_G89E,Missense_G89E,Missense_G89E,Missense_G89E,Missense_G89E,Missense_G89E,Missense_G151E,Missense_G151E,Missense_G89E,Missense_G89E,Missense_G151E,Missense_G89E,Missense_G89E,Missense_G89E,Missense_G89E exm46198 1 38155366 [T/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Missense_L126I,Missense_L63I,Missense_L126I,Missense_L126I,Missense_L125I,Missense_L63I,Missense_L63I,Missense_L63I,Missense_L63I,Missense_L63I,Missense_L63I,Missense_L125I,Missense_L125I,Missense_L63I,Missense_L63I,Missense_L125I,Missense_L63I,Missense_L63I,Missense_L63I,Missense_L63I exm46202 1 38155488 [T/C] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Missense_E85G,Missense_E22G,Missense_E85G,Missense_E85G,Missense_E84G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E84G,Missense_E84G,Missense_E22G,Missense_E22G,Missense_E84G,Missense_E22G,Missense_E22G,Missense_E22G,Missense_E22G variant.2506 1 38155546 [A/G] NM_001350755,NM_001350770,NM_001350757,NM_001303031,NM_001303030,NM_001350768,NM_001350761,NM_001350762,NM_017850,NM_001350760,NM_001350765,NM_001350759,NM_001350756,NM_001350769,NM_001350771,NM_001350758,NM_001350764,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Nonsense_Q66X,Nonsense_Q3X,Nonsense_Q66X,Nonsense_Q66X,Nonsense_Q65X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q65X,Nonsense_Q65X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q65X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X,Nonsense_Q3X rs3762352 1 38156902 [T/C] NM_001350757,NM_001350768,NM_001350762,NM_001350765,NM_001350759,NM_001350758,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs652109 1 38157717 [A/G] NM_001350757,NM_001350768,NM_001350762,NM_001350765,NM_001350759,NM_001350758,NM_001350763,NM_001350766,NM_001350767 C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109,C1orf109 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.38158210 1 38158211 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Silent,Silent exm46212 1 38158648 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_I56V,Missense_I56V JHU_1.38158904 1 38158905 [T/G] NM_001256875,NM_018101 CDCA8,CDCA8 Silent,Silent rs187413355 1 38162098 [C/G] NM_001256875,NM_018101 CDCA8,CDCA8 Silent,Silent rs60258705 1 38162932 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 Silent,Silent rs11264087 1 38163387 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 Silent,Silent 1:38164595-GA 1 38164595 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_E95K,Missense_E95K rs79898643 1 38164994 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 Silent,Silent exm46216 1 38166111 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_R114Q,Missense_R114Q exm2273637 1 38166170 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_R134C,Missense_R134C 1:38166186-CA 1 38166186 [A/C] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_T139N,Missense_T139N 1:38167445-CT 1 38167445 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_S148F,Missense_S148F exm46225 1 38168965 [T/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_L177W,Missense_L177W rs12139097 1 38169046 [T/G] NM_001256875,NM_018101 CDCA8,CDCA8 Silent,Silent exm46234 1 38171207 [T/A] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_I227F,Missense_I227F exm46235 1 38171231 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_G235S,Missense_G235S variant.2509 1 38171244 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 Silent,Silent 1:38172666-CT 1 38172666 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_A243V,Missense_A243V 1:38172710-GT 1 38172710 [T/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_A258S,Missense_A258S rs557897 1 38174185 [T/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Silent,Silent rs116072013 1 38175950 [T/C] JHU_1.38179142 1 38179143 [T/C] JHU_1.38179441 1 38179442 [A/G] 1:38181549-CT 1 38181549 [T/C] exm46255 1 38184106 [T/C] NM_001099439 EPHA10 EXON Missense_S989G exm46256 1 38184115 [T/C] NM_001099439 EPHA10 EXON Missense_A986T exm1800866 1 38184120 [A/C] NM_001099439 EPHA10 EXON Missense_R984L 1:38184343-TC 1 38184343 [T/C] NM_001099439 EPHA10 EXON Missense_M968V exm46260 1 38184349 [A/C] NM_001099439 EPHA10 EXON Missense_A966S exm46267 1 38184439 [T/C] NM_001099439 EPHA10 EXON Missense_G936S exm46279 1 38185116 [A/G] NM_001099439 EPHA10 EXON Missense_P909L exm46291 1 38185629 [A/C] NM_001099439 EPHA10 EXON Missense_E838D exm46296 1 38185714 [A/G] NM_001099439 EPHA10 EXON Missense_A810V exm46298 1 38185723 [T/C] NM_001099439 EPHA10 EXON Missense_R807Q 1:38186043-CT 1 38186043 [T/C] NM_001099439 EPHA10 EXON Missense_E798K 1:38186063-CT 1 38186063 [T/C] NM_001099439 EPHA10 EXON Missense_R791Q 1:38186124-AGGCCCC-A 1 38186124 [D/I] NM_001099439 EPHA10 EXON 1:38186178-CT 1 38186178 [T/C] NM_001099439 EPHA10 EXON Missense_G753R rs6671088 1 38186189 [T/C] NM_001099439 EPHA10 EXON Missense_G749E exm46315 1 38186189 [T/C] NM_001099439 EPHA10 EXON Missense_G749E exm46320 1 38186226 [A/G] NM_001099439 EPHA10 EXON Missense_R737W exm46322 1 38186487 [T/C] NM_001099439 EPHA10 EXON Missense_M726V 1:38187951-GT 1 38187951 [T/G] NM_001099439 EPHA10 Silent 1:38188604-CT 1 38188604 [T/C] NM_001099439 EPHA10 Silent exm46339 1 38188736 [A/G] NM_001099439 EPHA10 EXON Missense_T646M exm46341 1 38188740 [T/C] NM_001099439 EPHA10 EXON Missense_V645I exm2233316 1 38188748 [A/G] NM_001099439 EPHA10 EXON Missense_A642V exm46346 1 38188787 [A/G] NM_001099439 EPHA10 EXON Missense_L629P exm46347 1 38188820 [T/C] NM_001099439 EPHA10 EXON Missense_R618H Variant12366 1 38188836 [I/D] NM_001099439 EPHA10 EXON rs6686248 1 38192296 [A/G] NM_001099439 EPHA10 Silent exm1800901 1 38192814 [T/C] NM_001099439 EPHA10 EXON Missense_V578I exm46358 1 38192825 [A/G] NM_001099439 EPHA10 EXON Missense_S574L exm46359 1 38192838 [T/C] NM_001099439 EPHA10 EXON Missense_V570I rs731174 1 38196841 [T/C] NM_001099439 EPHA10 Silent exm46368 1 38197170 [T/C] NM_001099439 EPHA10 EXON Missense_V526I exm2273638 1 38197176 [A/G] NM_001099439 EPHA10 EXON Missense_R524C exm46372 1 38197214 [A/G] NM_001099439 EPHA10 EXON Missense_A511V exm46376 1 38197247 [T/C] NM_001099439 EPHA10 EXON Missense_S500N JHU_1.38197563 1 38197564 [T/C] NM_001099439 EPHA10 Silent JHU_1.38197863 1 38197864 [A/G] NM_001099439 EPHA10 Silent 1:38199184-G-C 1 38199184 [C/G] NM_001099439 EPHA10 Silent rs7549842 1 38199542 [T/C] NM_001099439 EPHA10 Silent rs659573 1 38199716 [T/C] NM_001099439 EPHA10 Silent JHU_1.38200625 1 38200626 [G/C] NM_001099439 EPHA10 Silent Variant12367 1 38200950 [D/I] NM_001099439 EPHA10 EXON 1:38200981-GA 1 38200981 [A/G] NM_001099439 EPHA10 EXON Missense_A480V 1:38201012-CA 1 38201012 [A/C] NM_001099439 EPHA10 EXON Missense_V470L 1:38201029-CA 1 38201029 [A/C] NM_001099439 EPHA10 EXON Missense_R464L 1:38201045-CA 1 38201045 [A/C] NM_001099439 EPHA10 EXON Nonsense_E459X 1:38201062-GA 1 38201062 [A/G] NM_001099439 EPHA10 EXON Missense_A453V rs631432 1 38201371 [T/C] NM_001099439 EPHA10 Silent rs149600009 1 38201380 [T/C] NM_001099439 EPHA10 Silent rs144513054 1 38202419 [T/C] NM_001099439 EPHA10 Silent rs663428 1 38206797 [A/G] NM_001099439 EPHA10 Silent 1:38207522-C-T 1 38207522 [T/C] NM_001099439 EPHA10 Silent rs483201 1 38207825 [T/G] NM_001099439 EPHA10 Silent rs113336870 1 38213507 [T/C] NM_001099439 EPHA10 Silent 1:38219907-GT 1 38219907 [T/G] NM_001099439 EPHA10 EXON Missense_P329Q rs34307995 1 38220055 [A/G] NM_001099439 EPHA10 Silent rs508992 1 38222805 [T/G] NM_001099439 EPHA10 Silent rs56171527 1 38224349 [T/G] NM_001099439 EPHA10 Silent rs565645 1 38224635 [T/G] NM_001099439 EPHA10 Silent exm46395 1 38227086 [A/T] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_F281I,Missense_F281I exm46400 1 38227136 [A/C] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_V264G,Missense_V264G exm46408 1 38227323 [T/C] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_V202I,Missense_V202I 1:38227367-CA 1 38227367 [A/C] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_G187V,Missense_G187V chr1_38227452 1 38227452 [T/C] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_E159K,Missense_E159K exm46421 1 38227500 [A/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_R143C,Missense_R143C 1:38227569-CT 1 38227569 [T/C] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_G120S,Missense_G120S exm46426 1 38227620 [C/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_V103L,Missense_V103L exm46431 1 38227722 [A/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_R69C,Missense_R69C rs75546981 1 38228031 [T/C] NM_001099439,NM_173641 EPHA10,EPHA10 Silent,Silent JHU_1.38229102 1 38229103 [T/C] NM_001099439,NM_173641 EPHA10,EPHA10 Silent,Silent exm46437 1 38230699 [C/G] NM_001099439,NM_173641 EPHA10,EPHA10 EXON Missense_L14V,Missense_L14V rs10157024 1 38231069 [T/C] rs146946798 1 38231238 [G/C] rs112352675 1 38232209 [T/C] rs900680 1 38232283 [T/G] rs146568541 1 38233509 [A/T] rs76826788 1 38234634 [A/G] rs114993099 1 38235621 [A/C] rs114157359 1 38240331 [A/G] rs489408 1 38243785 [A/G] rs597210 1 38246704 [T/C] exm-rs12117544 1 38247153 [A/T] JHU_1.38247206 1 38247207 [C/G] rs4308943 1 38247738 [A/G] JHU_1.38248587 1 38248588 [T/A] rs72917952 1 38252173 [A/C] 1:38260146-AC 1 38260146 [A/C] NM_001031740,NM_001113482 MANEAL,MANEAL EXON Missense_S98R,Missense_S98R 1:38260398-GT 1 38260398 [T/G] NM_001031740,NM_001113482 MANEAL,MANEAL EXON Missense_A182S,Missense_A182S rs2306627 1 38260503 [T/C] NM_001031740,NM_001113482 MANEAL,MANEAL Silent,Silent rs117208662 1 38261310 [T/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Silent,Silent JHU_1.38261545 1 38261546 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL Silent,Silent,Silent exm46452 1 38262417 [T/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Missense_V221G,Missense_V221G,Silent exm46458 1 38262492 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Missense_T246I,Missense_T246M,Silent JHU_1.38263833 1 38263834 [A/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL Silent,Silent,Silent exm1800928 1 38265258 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_F253L,Missense_F31L exm46465 1 38265363 [A/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_G288R,Missense_G66R 1:38265487-AG 1 38265487 [A/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_N329S,Missense_N107S 1:38265589-TC 1 38265589 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_I363T,Missense_I141T exm46476 1 38265622 [A/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_N374S,Missense_N152S exm46479 1 38265670 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_A390V,Missense_A168V exm46481 1 38265709 [T/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_S403F,Missense_S181F 1:38265768-AC 1 38265768 [A/C] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_T423P,Missense_T201P exm46492 1 38265849 [A/G] NM_001031740,NM_001113482,NM_152496 MANEAL,MANEAL,MANEAL EXON Silent,Missense_K450E,Missense_K228E rs192250707 1 38267588 [A/C] variant.2539 1 38269969 [T/C] NM_024640 YRDC Silent exm46499 1 38270002 [T/C] NM_024640 YRDC EXON Missense_G247R exm46501 1 38270005 [A/G] NM_024640 YRDC EXON Missense_P246S exm2233321 1 38272820 [T/C] NM_024640 YRDC EXON Missense_M153V 1:38274674-GC-G 1 38274674 [D/I] NM_001142726,NM_198446 C1orf122,C1orf122 EXON exm46539 1 38274696 [G/C] NM_001142726,NM_198446 C1orf122,C1orf122 EXON Missense_A32G,Missense_A95G exm46542 1 38274713 [A/G] NM_001142726,NM_198446 C1orf122,C1orf122 EXON Missense_K38E,Missense_K101E exm46543 1 38274722 [A/G] NM_001142726,NM_198446 C1orf122,C1orf122 EXON Missense_G41S,Missense_G104S rs3806286 1 38275277 [G/C] NM_005955 MTF1 EXON Silent rs473279 1 38275802 [T/C] NM_005955 MTF1 EXON Silent rs28411352 1 38278579 [T/C] NM_005955 MTF1 EXON Silent JHU_1.38279984 1 38279985 [A/G] NM_005955 MTF1 EXON Silent rs3748682 1 38279987 [T/C] NM_005955 MTF1 EXON Silent exm46553 1 38280866 [A/G] NM_005955 MTF1 EXON Missense_I735T indel.2541 1 38280946 [I/D] NM_005955 MTF1 EXON exm46556 1 38280953 [T/C] NM_005955 MTF1 EXON Missense_D706G variant.2542 1 38280972 [A/G] NM_005955 MTF1 EXON Nonsense_Q700X exm46562 1 38281046 [A/G] NM_005955 MTF1 EXON Missense_A675V rs200294506 1 38281179 [C/G] NM_005955 MTF1 EXON Missense_A631P rs144292631 1 38282890 [T/C] NM_005955 MTF1 Silent exm46567 1 38287837 [T/C] NM_005955 MTF1 EXON Missense_I575V rs200537304 1 38287912 [T/C] NM_005955 MTF1 EXON Missense_I550V 1:38287992-TG 1 38287992 [T/G] NM_005955 MTF1 EXON Missense_Q523P exm46583 1 38288227 [A/G] NM_005955 MTF1 EXON Missense_P445S exm46586 1 38288242 [A/G] NM_005955 MTF1 EXON Missense_P440S exm46591 1 38289383 [T/C] NM_005955 MTF1 EXON Synonymous_T390T rs12751325 1 38289383 [T/C] NM_005955 MTF1 EXON Synonymous_T390T exm46593 1 38289400 [T/C] NM_005955 MTF1 EXON Missense_E385K exm46597 1 38289462 [A/G] NM_005955 MTF1 EXON Missense_T364I JHU_1.38290364 1 38290365 [A/G] NM_005955 MTF1 Silent rs114176529 1 38290365 [A/G] NM_005955 MTF1 Silent rs78799526 1 38290430 [T/C] NM_005955 MTF1 Silent 1:38291586-C-T 1 38291586 [T/C] NM_005955 MTF1 Silent JHU_1.38298691 1 38298692 [T/A] NM_005955 MTF1 Silent JHU_1.38302617 1 38302618 [C/G] NM_005955 MTF1 Silent JHU_1.38304766 1 38304767 [T/C] NM_005955 MTF1 Silent variant.2543 1 38305836 [A/C] NM_005955 MTF1 Silent rs12745294 1 38309322 [T/C] NM_005955 MTF1 Silent 1:38311333-A-C 1 38311333 [A/C] NM_005955 MTF1 Silent rs372754421 1 38312615 [T/C] NM_005955 MTF1 Silent rs112951935 1 38321130 [A/G] NM_005955 MTF1 Silent rs193166151 1 38322931 [A/G] NM_005955 MTF1 EXON Missense_R134C exm46626 1 38323142 [T/G] NM_005955 MTF1 EXON Missense_D63E rs147561762 1 38326240 [A/C] 1:38327992-GA 1 38327992 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_L693F,Missense_L913F,Missense_L693F,Missense_L749F variant.2544 1 38328076 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Nonsense_R665X,Nonsense_R885X,Nonsense_R665X,Nonsense_R721X JHU_1.38328889 1 38328890 [T/A] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent exm46640 1 38329999 [C/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_D651H,Missense_D871H,Missense_D651H,Missense_D707H 1:38330007-TC 1 38330007 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_N648S,Missense_N868S,Missense_N648S,Missense_N704S rs3828152 1 38330396 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent 1:38331503-TC 1 38331503 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_E595G,Missense_E815G,Missense_E595G,Missense_E651G 1:38332155-CA 1 38332155 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_D568Y,Missense_D788Y,Missense_D568Y,Missense_D624Y rs186075750 1 38332370 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent var_1_38334168 1 38334168 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent 1:38334184-CT 1 38334184 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_A544T,Missense_A764T,Missense_A544T,Missense_A600T var_1_38334190 1 38334190 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Nonsense_R542X,Nonsense_R762X,Nonsense_R542X,Nonsense_R598X JHU_1.38334576 1 38334577 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent variant.2549 1 38338600 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent 1:38338649-TC 1 38338649 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_M494V,Missense_M714V,Missense_M494V,Missense_M550V rs143656138 1 38338737 [C/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_H464Q,Missense_H684Q,Missense_H464Q,Missense_H520Q rs200372916 1 38338760 [T/A] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_I457F,Missense_I677F,Missense_I457F,Missense_I513F exm46658 1 38338795 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_M445T,Missense_M665T,Missense_M445T,Missense_M501T 1:38339694-GA 1 38339694 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_A421V,Missense_A641V,Missense_A421V,Missense_A477V rs17805826 1 38340640 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent 1:38341321-AG 1 38341321 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_M362T,Missense_M582T,Missense_M362T,Missense_M418T chr1_38341337 1 38341337 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_R357C,Missense_R577C,Missense_R357C,Missense_R413C rs12742756 1 38347417 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent 1:38348506-GA 1 38348506 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Synonymous_D248D,Synonymous_D468D,Synonymous_D248D,Synonymous_D304D exm46684 1 38348517 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_E245K,Missense_E465K,Missense_E245K,Missense_E301K 1:38351361-TC 1 38351361 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_Q203R,Missense_Q423R,Missense_Q203R,Missense_Q259R exm46689 1 38351367 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_R201L,Missense_R421L,Missense_R201L,Missense_R257L exm46695 1 38352664 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Nonsense_R123X,Nonsense_R343X,Nonsense_R123X,Nonsense_R179X 1:38353133-GT 1 38353133 [T/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_Q82K,Missense_Q302K,Missense_Q82K,Missense_Q138K exm46702 1 38354008 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_A49V,Missense_A269V,Missense_A49V,Missense_A105V exm46708 1 38355335 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_D11Y,Missense_D231Y,Missense_D11Y,Missense_D67Y rs138538972 1 38355335 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Missense_D11Y,Missense_D231Y,Missense_D11Y,Missense_D67Y exm1801019 1 38357078 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Silent,Missense_M194T,Silent,Missense_M30T exm46712 1 38357085 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Silent,Missense_V192M,Silent,Missense_V28M JHU_1.38367245 1 38367246 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent rs74067340 1 38367330 [T/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent 1:38378039-A-C 1 38378039 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent rs12733578 1 38380285 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent rs75527167 1 38380740 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent JHU_1.38381205 1 38381206 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent JHU_1.38386354 1 38386355 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent JHU_1.38388510 1 38388511 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent rs77114926 1 38391760 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent rs16824514 1 38395947 [A/T] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent 1:38397341-GA 1 38397341 [A/G] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B Silent,Silent,Silent,Silent 1:38397369-CT 1 38397369 [T/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Silent,Silent,Silent,Missense_G6S 1:38397372-CA 1 38397372 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Silent,Silent,Silent,Missense_A5S 1:38397396-CA 1 38397396 [A/C] NM_001350228,NM_005540,NM_001350227,NM_001297434 INPP5B,INPP5B,INPP5B,INPP5B EXON Silent,Silent,Silent,Silent 1:38397496-CT 1 38397496 [T/C] NM_001350228,NM_005540 INPP5B,INPP5B Silent,Silent rs12739026 1 38401933 [A/C] NM_001350228,NM_005540 INPP5B,INPP5B Silent,Silent chr1_38406456 1 38406456 [A/C] NM_001350228,NM_005540 INPP5B,INPP5B EXON Silent,Missense_V99F rs28600729 1 38406626 [A/G] NM_001350228,NM_005540 INPP5B,INPP5B Silent,Silent rs28416760 1 38409112 [T/A] NM_005540 INPP5B Silent 1:38409468-CT 1 38409468 [T/C] NM_005540 INPP5B EXON Missense_V84M exm46737 1 38409489 [A/G] NM_005540 INPP5B EXON Missense_R77W exm2251567 1 38409550 [T/C] NM_005540 INPP5B EXON Synonymous_T56T exm46742 1 38409550 [T/C] NM_005540 INPP5B EXON Synonymous_T56T rs61776701 1 38411275 [A/G] NM_005540 INPP5B Silent exm46746 1 38411444 [T/C] NM_005540 INPP5B EXON Missense_G46S rs190204689 1 38411465 [T/C] NM_005540 INPP5B EXON Missense_V39M JHU_1.38411796 1 38411797 [A/G] NM_005540 INPP5B Silent rs72919793 1 38415030 [A/G] 1:38420270-A-G 1 38420270 [A/G] JHU_1.38423852 1 38423853 [G/C] NM_001320830,NM_006802 SF3A3,SF3A3 EXON Silent,Silent 1:37967099_37967100ins 1 38432771 [I/D] NM_001320830,NM_006802 SF3A3,SF3A3 1:38433769-AC 1 38433769 [A/C] NM_001320830,NM_006802 SF3A3,SF3A3 EXON Missense_I387S,Missense_I440S 1:38442602-AG 1 38442602 [A/G] NM_001320830,NM_006802 SF3A3,SF3A3 EXON Missense_I267T,Missense_I320T rs77442909 1 38443048 [A/G] NM_001320830,NM_006802 SF3A3,SF3A3 Silent,Silent rs77135104 1 38444209 [A/G] NM_001320830,NM_006802 SF3A3,SF3A3 Silent,Silent JHU_1.38444208 1 38444209 [A/G] NM_001320830,NM_006802 SF3A3,SF3A3 Silent,Silent 1:38444422-GT 1 38444422 [T/G] NM_001320830,NM_006802 SF3A3,SF3A3 EXON Missense_A249D,Missense_A302D 1:38444462-TC 1 38444462 [T/C] NM_001320830,NM_006802 SF3A3,SF3A3 EXON Missense_K236E,Missense_K289E JHU_1.38447614 1 38447615 [T/G] NM_001320830,NM_006802 SF3A3,SF3A3 Silent,Silent rs11210870 1 38449910 [T/C] NM_001320830,NM_006802 SF3A3,SF3A3 EXON Synonymous_E80E,Synonymous_E133E 1:38450394-TC 1 38450394 [T/C] NM_001320830,NM_006802 SF3A3,SF3A3 EXON Missense_S68G,Missense_S121G exm46802 1 38450438 [A/G] NM_001320830,NM_006802 SF3A3,SF3A3 EXON Missense_M53T,Missense_M106T rs114938942 1 38452701 [T/A] NM_001320830,NM_006802 SF3A3,SF3A3 Silent,Silent rs12044531 1 38453041 [A/G] NM_001320830,NM_006802 SF3A3,SF3A3 Silent,Silent exm46807 1 38453330 [T/C] NM_001320830,NM_006802 SF3A3,SF3A3 EXON Silent,Missense_N73S 1:38453576-A-C 1 38453576 [A/C] NM_001320830,NM_006802 SF3A3,SF3A3 Silent,Silent rs145501095 1 38454510 [T/C] NM_001320830,NM_006802 SF3A3,SF3A3 Silent,Silent rs4072980 1 38456106 [A/G] rs6673552 1 38457848 [T/C] JHU_1.38461412 1 38461413 [A/G] 1:38463130-CT 1 38463130 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_V156I,Missense_V264I exm46822 1 38463148 [C/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_L150V,Missense_L258V exm46824 1 38463226 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_G124S,Missense_G232S exm46826 1 38463367 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_R118H,Missense_R226H 1:38463466-GA 1 38463466 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_T85M,Missense_T193M exm46829 1 38463476 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_G82R,Missense_G190R exm46830 1 38463477 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Synonymous_T81T,Synonymous_T189T exm46833 1 38463514 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_R69H,Missense_R177H exm46837 1 38463541 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_T60M,Missense_T168M 1:38463706-CT 1 38463706 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Missense_D36N,Missense_D144N exm46850 1 38464670 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Silent,Missense_A103T exm46854 1 38464690 [A/G] NM_001243878,NM_004468 FHL3,FHL3 EXON Silent,Missense_A96V 1:38464759-CT 1 38464759 [T/C] NM_001243878,NM_004468 FHL3,FHL3 EXON Silent,Missense_R73H JHU_1.38466696 1 38466697 [A/G] NM_001243878,NM_004468 FHL3,FHL3 Silent,Silent JHU_1.38466907 1 38466908 [T/C] NM_001243878,NM_004468 FHL3,FHL3 Silent,Silent JHU_1.38467313 1 38467314 [A/C] NM_001243878,NM_004468 FHL3,FHL3 Silent,Silent JHU_1.38467421 1 38467422 [T/C] NM_001243878,NM_004468 FHL3,FHL3 Silent,Silent rs6600436 1 38469500 [T/C] NM_001243878,NM_004468 FHL3,FHL3 Silent,Silent rs34404566 1 38472100 [A/G] rs12049327 1 38476231 [A/G] exm46871 1 38478503 [A/C] NM_016037 UTP11 EXON Missense_K10T rs4525008 1 38480988 [T/C] NM_016037 UTP11 Silent exm46873 1 38482080 [A/G] NM_016037 UTP11 EXON Missense_K38R rs11211383 1 38482356 [T/G] NM_016037 UTP11 Silent 1:38483356-CA 1 38483356 [A/C] NM_016037 UTP11 EXON Missense_Q48K 1:38483420-AG 1 38483420 [A/G] NM_016037 UTP11 EXON Missense_K69R exm46876 1 38483428 [T/C] NM_016037 UTP11 EXON Missense_R72W variant.2558 1 38484254 [T/G] NM_016037 UTP11 Silent indel.2559 1 38484752 [I/D] NM_016037 UTP11 EXON exm46883 1 38484795 [A/G] NM_016037 UTP11 EXON Missense_H136R 1:38484961-CT 1 38484961 [T/C] NM_016037 UTP11 EXON Missense_A158V exm46886 1 38484981 [A/G] NM_016037 UTP11 EXON Missense_V165I variant.2560 1 38485041 [T/C] NM_016037 UTP11 EXON Nonsense_Q185X rs12737643 1 38486480 [T/C] NM_016037 UTP11 Silent rs143247569 1 38488335 [T/C] NM_016037 UTP11 Silent exm46889 1 38488372 [A/G] NM_016037 UTP11 EXON Missense_R190Q variant.2561 1 38488425 [T/C] NM_016037 UTP11 EXON Nonsense_R208X rs72663617 1 38488626 [T/C] NM_016037 UTP11 Silent exm46900 1 38489251 [T/C] NM_016037 UTP11 EXON Missense_T238M exm46901 1 38489269 [T/C] NM_016037 UTP11 EXON Missense_I244T var_1_38489289 1 38489289 [T/C] NM_016037 UTP11 EXON Nonsense_R251X rs12408171 1 38491265 [T/C] rs143654611 1 38491737 [T/A] rs569791 1 38507495 [A/G] JHU_1.38507987 1 38507988 [T/C] 1:38512283-CA 1 38512283 [A/C] NM_002699 POU3F1 EXON Missense_A45S rs7553786 1 38514453 [T/C] rs72663620 1 38515058 [T/A] JHU_1.38515928 1 38515929 [A/G] JHU_1.38517539 1 38517540 [T/C] rs190519086 1 38519285 [A/C] rs11205858 1 38529500 [A/G] rs35709379 1 38529827 [A/G] rs12749199 1 38530589 [T/C] JHU_1.38532783 1 38532784 [T/C] rs12733163 1 38533001 [A/G] rs11205918 1 38533865 [T/C] rs72634498 1 38534523 [A/G] JHU_1.38534752 1 38534753 [T/C] rs12074522 1 38541428 [A/G] JHU_1.38543104 1 38543105 [T/C] JHU_1.38559393 1 38559394 [G/C] JHU_1.38559446 1 38559447 [T/C] JHU_1.38559508 1 38559509 [A/G] JHU_1.38559793 1 38559794 [G/C] rs523864 1 38560968 [A/G] JHU_1.38563236 1 38563237 [A/G] rs12044535 1 38563321 [A/G] JHU_1.38563692 1 38563693 [A/G] rs4970626 1 38565549 [T/C] rs11206581 1 38568136 [T/C] rs75283964 1 38570611 [A/G] JHU_1.38570610 1 38570611 [A/G] rs2615811 1 38570853 [A/G] JHU_1.38574091 1 38574092 [T/G] rs67209740 1 38576839 [T/C] rs72634499 1 38577774 [G/C] JHU_1.38577773 1 38577774 [G/C] rs12729189 1 38581890 [A/T] rs12404747 1 38591115 [T/C] rs898984 1 38593021 [T/A] rs11207178 1 38596272 [A/G] rs76114497 1 38596303 [T/C] rs7547921 1 38602073 [A/C] rs12074713 1 38602153 [A/C] JHU_1.38603182 1 38603183 [A/C] JHU_1.38603581 1 38603582 [T/C] JHU_1.38604468 1 38604469 [A/G] JHU_1.38605065 1 38605066 [A/G] JHU_1.38605308 1 38605309 [A/C] rs75428275 1 38605309 [A/C] rs113732374 1 38606853 [T/G] rs4593783 1 38609325 [A/G] rs883220 1 38616871 [A/C] rs12083795 1 38623285 [T/G] JHU_1.38623428 1 38623429 [A/G] rs74790003 1 38623429 [A/G] rs79808782 1 38627671 [A/T] rs79490153 1 38630241 [T/C] JHU_1.38633454 1 38633455 [A/G] JHU_1.38633882 1 38633883 [A/T] rs10889314 1 38636296 [A/C] rs6656185 1 38640565 [T/C] JHU_1.38641820 1 38641821 [C/G] JHU_1.38641825 1 38641826 [G/C] rs898982 1 38645708 [A/G] rs11590625 1 38647675 [A/G] rs75192626 1 38650079 [A/G] rs10889449 1 38651608 [A/G] rs12029651 1 38652272 [T/C] JHU_1.38652830 1 38652831 [A/G] JHU_1.38655848 1 38655849 [T/C] rs60250620 1 38656669 [A/G] rs748229 1 38657551 [T/C] rs74717052 1 38657779 [T/C] rs4300184 1 38658717 [A/G] rs77754948 1 38663830 [A/G] rs1841796 1 38664433 [A/G] rs898978 1 38667704 [T/G] rs57094372 1 38668700 [T/G] rs6659413 1 38671406 [T/C] rs11208746 1 38671697 [A/G] rs6687006 1 38673243 [A/G] rs115448174 1 38674153 [T/C] JHU_1.38677859 1 38677860 [T/A] NR_038928 LINC01343 EXON Silent rs6683126 1 38681026 [T/C] rs12038679 1 38682355 [G/C] rs58983224 1 38684043 [T/C] JHU_1.38685124 1 38685125 [T/C] rs72663692 1 38685253 [A/G] rs6675079 1 38686908 [A/C] JHU_1.38687261 1 38687262 [T/G] JHU_1.38691198 1 38691199 [T/C] rs16824807 1 38695702 [A/G] rs60895599 1 38701010 [A/T] rs1755302 1 38704189 [A/G] rs79945218 1 38704592 [A/G] rs114360750 1 38706143 [T/C] rs76440271 1 38708441 [A/G] rs58519734 1 38710834 [A/G] rs77802780 1 38712519 [A/G] rs137908612 1 38713121 [A/G] rs72665410 1 38714027 [T/C] rs74065749 1 38715155 [T/C] rs6702480 1 38715252 [T/C] rs72665416 1 38716633 [G/C] JHU_1.38717764 1 38717765 [T/C] rs4970579 1 38718348 [T/G] rs4970545 1 38718502 [A/G] rs11802770 1 38721663 [T/C] JHU_1.38728173 1 38728174 [T/C] JHU_1.38731438 1 38731439 [A/G] JHU_1.38731504 1 38731505 [A/G] JHU_1.38731846 1 38731847 [T/C] JHU_1.38731930 1 38731931 [A/C] JHU_1.38732699 1 38732700 [T/C] rs2480697 1 38733788 [T/G] rs2452001 1 38733930 [A/G] rs147226132 1 38734727 [A/G] exm2251575 1 38734768 [A/G] rs75576685 1 38736720 [T/C] rs2773158 1 38737593 [T/C] rs79967142 1 38737654 [A/G] rs12075194 1 38738105 [A/C] rs72924520 1 38738197 [T/C] JHU_1.38742121 1 38742122 [T/C] JHU_1.38744797 1 38744798 [T/C] JHU_1.38747455 1 38747456 [A/G] rs1543632 1 38747960 [T/C] JHU_1.38748652 1 38748653 [T/G] rs12565767 1 38750042 [T/G] rs6600376 1 38750228 [A/C] 1:38751175-C-T 1 38751175 [T/C] rs113411931 1 38751406 [G/C] rs1329967 1 38752476 [A/G] rs1122874 1 38758568 [T/C] rs58560387 1 38768583 [T/C] rs1778040 1 38769077 [A/C] rs12748758 1 38769144 [T/C] JHU_1.38769965 1 38769966 [T/C] rs1778037 1 38774882 [T/G] rs12098129 1 38775376 [A/G] rs76558022 1 38776162 [T/C] JHU_1.38782276 1 38782277 [A/G] JHU_1.38782554 1 38782555 [T/G] JHU_1.38782748 1 38782749 [T/G] rs79032339 1 38789368 [T/G] rs1755305 1 38789949 [T/G] rs1778041 1 38790638 [A/G] rs12032179 1 38791307 [A/G] rs71642632 1 38791924 [A/T] rs66994110 1 38793126 [I/D] rs2480699 1 38793726 [A/G] JHU_1.38798199 1 38798200 [T/C] rs115201683 1 38798200 [T/C] rs2840549 1 38799034 [A/G] rs2637846 1 38799191 [T/C] rs10890173 1 38799283 [A/G] rs113562151 1 38804233 [A/T] rs115597039 1 38805436 [T/C] JHU_1.38805841 1 38805842 [T/C] rs11210569 1 38805929 [T/C] JHU_1.38809295 1 38809296 [T/C] rs76309714 1 38811032 [A/G] rs2637876 1 38814355 [A/C] rs77433126 1 38814899 [A/G] JHU_1.38817673 1 38817674 [A/G] rs72665498 1 38822238 [T/G] JHU_1.38824023 1 38824024 [T/C] rs2040073 1 38829224 [T/C] rs116914448 1 38830032 [A/G] rs1107653 1 38830846 [T/C] rs116010034 1 38831738 [T/C] rs72667508 1 38832750 [T/G] JHU_1.38833018 1 38833019 [T/G] JHU_1.38834412 1 38834413 [A/T] rs16824993 1 38835058 [C/G] JHU_1.38838021 1 38838022 [G/C] rs4278342 1 38843016 [A/G] JHU_1.38847307 1 38847308 [T/C] rs76067250 1 38847308 [T/C] JHU_1.38847676 1 38847677 [A/C] rs35046023 1 38848433 [T/C] rs11210654 1 38848996 [A/G] rs4266846 1 38850339 [A/C] rs17478958 1 38851959 [A/C] rs7521522 1 38853024 [A/G] rs12061862 1 38858428 [A/G] rs12740005 1 38858540 [A/G] rs6690257 1 38865601 [A/G] rs116443511 1 38872369 [T/C] JHU_1.38872368 1 38872369 [T/C] JHU_1.38875445 1 38875446 [T/C] exm2260265 1 38875991 [T/C] JHU_1.38875990 1 38875991 [T/C] rs12132779 1 38876635 [A/G] rs72667562 1 38877157 [T/G] rs12723237 1 38887351 [T/C] rs12567724 1 38888096 [T/C] JHU_1.38888583 1 38888584 [T/C] rs10890223 1 38890659 [T/C] rs7530233 1 38900643 [A/G] rs4970591 1 38900680 [T/C] JHU_1.38902649 1 38902650 [T/C] rs116862510 1 38903623 [A/G] rs2256357 1 38908461 [T/C] JHU_1.38913828 1 38913829 [T/C] JHU_1.38913994 1 38913995 [A/G] JHU_1.38914303 1 38914304 [A/G] rs1006812 1 38915251 [A/G] rs11210795 1 38916976 [A/G] JHU_1.38917047 1 38917048 [T/C] rs882000 1 38917810 [T/G] rs2252153 1 38919423 [A/G] rs16825060 1 38919709 [A/G] rs143965249 1 38920216 [A/G] 1:38922156-A-G 1 38922156 [A/G] rs2248810 1 38923786 [A/C] rs12023905 1 38924811 [T/C] JHU_1.38924810 1 38924811 [T/C] JHU_1.38926239 1 38926240 [T/G] rs2494441 1 38929864 [A/G] rs2247973 1 38931261 [T/C] rs72914723 1 38932076 [T/G] rs12564999 1 38932405 [T/C] rs146745890 1 38933305 [A/C] rs6686116 1 38934792 [A/G] rs6691854 1 38935185 [T/C] rs114012309 1 38937393 [A/G] rs79940016 1 38942404 [T/G] JHU_1.38948627 1 38948628 [T/G] rs945340 1 38949254 [A/T] rs2992434 1 38954125 [T/C] rs6665298 1 38957405 [A/G] rs4970599 1 38958042 [A/G] rs117158934 1 38959672 [G/C] rs2992442 1 38960201 [T/A] rs72669256 1 38966163 [A/G] JHU_1.38971683 1 38971684 [A/C] rs74356225 1 38977482 [A/C] rs111512294 1 38978668 [A/G] rs2184611 1 38984339 [T/C] rs76267165 1 38987497 [A/G] rs12062702 1 38989193 [A/G] JHU_1.38990042 1 38990043 [G/C] JHU_1.38992740 1 38992741 [A/C] rs79149692 1 38993624 [A/G] rs11590421 1 38994115 [A/G] rs75856562 1 39000935 [A/G] JHU_1.39002188 1 39002189 [T/A] rs59845882 1 39002220 [A/G] rs74066325 1 39006044 [T/C] JHU_1.39006233 1 39006234 [A/G] rs115448646 1 39006961 [T/A] JHU_1.39007543 1 39007544 [T/G] JHU_1.39007724 1 39007725 [A/C] rs79282280 1 39008096 [T/C] JHU_1.39008591 1 39008592 [C/G] rs11210953 1 39009996 [T/G] rs11210966 1 39011918 [T/C] rs74523586 1 39014108 [A/C] rs3011207 1 39014741 [A/G] JHU_1.39019798 1 39019799 [T/C] JHU_1.39028902 1 39028903 [G/C] JHU_1.39029499 1 39029500 [G/C] rs10890297 1 39029775 [A/G] rs60392789 1 39032084 [A/C] JHU_1.39033743 1 39033744 [T/G] rs113984913 1 39035297 [T/C] rs77260241 1 39037257 [A/G] JHU_1.39040775 1 39040776 [T/C] JHU_1.39041017 1 39041018 [A/G] rs78204531 1 39041567 [T/C] rs11210993 1 39042285 [T/C] rs7550410 1 39042721 [A/G] rs17540817 1 39043162 [A/T] rs115422657 1 39044132 [A/G] rs4970604 1 39044985 [T/A] rs12090711 1 39045332 [G/C] JHU_1.39047418 1 39047419 [T/C] rs146470563 1 39051617 [A/G] rs11800043 1 39051913 [A/G] JHU_1.39054448 1 39054449 [T/C] rs2985755 1 39054557 [A/G] rs2985756 1 39056894 [A/C] rs56838999 1 39059991 [T/C] JHU_1.39059990 1 39059991 [T/C] rs1411195 1 39066442 [A/G] rs11211022 1 39066978 [T/A] rs3011181 1 39067106 [A/C] rs72669300 1 39071141 [T/C] rs2985774 1 39071272 [A/G] rs11582181 1 39072258 [A/G] JHU_1.39072438 1 39072439 [T/A] rs12404099 1 39074338 [C/G] JHU_1.39074909 1 39074910 [G/C] rs80142891 1 39074910 [G/C] JHU_1.39076297 1 39076298 [T/C] rs3011192 1 39076663 [T/A] rs1925381 1 39077065 [T/C] JHU_1.39077133 1 39077134 [C/G] JHU_1.39077506 1 39077507 [T/C] rs3011196 1 39078789 [T/C] JHU_1.39078940 1 39078941 [C/G] rs77012734 1 39079087 [A/G] rs3011200 1 39079403 [A/G] rs72923438 1 39079548 [C/G] rs56149631 1 39080248 [T/C] rs4970554 1 39080889 [A/G] rs12037910 1 39087604 [A/G] rs1033929 1 39088431 [T/C] rs56323534 1 39089238 [A/T] rs7548027 1 39092056 [A/C] rs4970609 1 39092449 [A/G] JHU_1.39103638 1 39103639 [T/C] rs652451 1 39104269 [C/G] rs58145099 1 39106730 [T/G] JHU_1.39111854 1 39111855 [T/C] rs184184509 1 39114129 [A/G] rs12144138 1 39115623 [G/C] JHU_1.39117216 1 39117217 [A/G] rs12239044 1 39118179 [A/G] rs10082063 1 39119083 [T/C] rs72927171 1 39121287 [A/C] rs4970612 1 39125390 [T/C] rs17483462 1 39126791 [A/G] JHU_1.39128457 1 39128458 [G/C] rs6687438 1 39129295 [T/C] rs112590063 1 39129302 [T/C] rs6687034 1 39134880 [T/C] rs4970614 1 39135748 [T/C] JHU_1.39140040 1 39140041 [A/G] JHU_1.39142331 1 39142332 [A/G] 1:39146018-C-T 1 39146018 [T/C] JHU_1.39147270 1 39147271 [A/G] rs114097583 1 39147553 [T/C] rs61709949 1 39151753 [A/G] rs75901816 1 39155043 [A/T] rs2151267 1 39157176 [T/C] rs4970619 1 39160381 [A/G] rs56396837 1 39163002 [T/C] rs72656168 1 39163474 [T/G] rs10789469 1 39166802 [T/C] rs61387236 1 39167036 [T/C] rs56302818 1 39167809 [T/C] rs182676352 1 39174700 [A/G] rs141146533 1 39176210 [T/C] rs12119819 1 39181311 [T/C] rs6663716 1 39182130 [A/G] JHU_1.39185550 1 39185551 [T/C] rs56058249 1 39186711 [T/C] JHU_1.39188802 1 39188803 [A/G] JHU_1.39191617 1 39191618 [A/T] rs6680382 1 39192498 [A/G] rs112129587 1 39194962 [A/G] rs11211245 1 39196557 [A/G] rs679143 1 39204184 [A/G] JHU_1.39207380 1 39207381 [T/A] JHU_1.39207911 1 39207912 [T/C] rs59839193 1 39209120 [A/G] 1:39209323-T-C 1 39209323 [T/C] rs2182146 1 39211558 [T/C] rs2147844 1 39211970 [T/C] JHU_1.39211989 1 39211990 [T/C] rs12405037 1 39212206 [C/G] rs71642650 1 39213411 [A/G] rs6681406 1 39213929 [A/G] rs942759 1 39214152 [A/G] rs74618933 1 39215561 [A/G] JHU_1.39215766 1 39215767 [A/G] JHU_1.39216856 1 39216857 [T/C] rs76435723 1 39217645 [A/C] rs76181605 1 39218219 [C/G] JHU_1.39218438 1 39218439 [T/C] rs581742 1 39218513 [T/C] exm2263821 1 39221925 [A/C] rs74853340 1 39222764 [A/T] rs11211265 1 39224235 [T/A] rs2483119 1 39224652 [A/G] rs4147130 1 39225303 [A/G] rs61780006 1 39226597 [T/C] rs76810332 1 39228860 [A/G] rs55649576 1 39229471 [T/C] JHU_1.39229689 1 39229690 [T/C] rs183590443 1 39232105 [A/G] JHU_1.39237600 1 39237601 [A/G] JHU_1.39238094 1 39238095 [A/G] rs4970627 1 39238597 [A/G] rs7512634 1 39240157 [T/C] rs76770950 1 39241574 [T/C] rs12046969 1 39242855 [A/G] rs114203666 1 39244553 [A/T] rs115895412 1 39246309 [A/G] rs12096646 1 39247102 [T/C] rs12729493 1 39247489 [T/C] rs1925421 1 39250964 [A/G] rs10789490 1 39255293 [A/G] rs6675193 1 39258674 [T/C] rs74383580 1 39273396 [T/C] JHU_1.39274600 1 39274601 [A/G] rs9439072 1 39278828 [A/G] rs4970631 1 39279767 [C/G] rs77004208 1 39280492 [T/C] rs76941682 1 39280500 [T/C] rs12135242 1 39281674 [T/C] rs10890425 1 39284122 [A/C] JHU_1.39288008 1 39288009 [A/G] JHU_1.39288430 1 39288431 [T/C] JHU_1.39288580 1 39288581 [A/T] rs144127084 1 39291525 [T/C] rs147325363 1 39291559 [A/G] rs6690335 1 39291708 [A/G] rs78163922 1 39293721 [T/A] 1:39295709-G-A 1 39295709 [A/G] rs9438970 1 39295972 [T/C] rs141132778 1 39297127 [T/C] rs7532880 1 39297734 [T/C] rs141990586 1 39303899 [A/G] NM_001271851,NM_022157 RRAGC,RRAGC EXON Silent,Silent rs9694 1 39304728 [A/G] NM_001271851,NM_022157 RRAGC,RRAGC EXON Silent,Silent chr1_39305244 1 39305244 [A/G] NM_001271851,NM_022157 RRAGC,RRAGC EXON Missense_T360M,Missense_T394M 1:39305252-GT 1 39305252 [T/G] NM_001271851,NM_022157 RRAGC,RRAGC EXON Missense_H357Q,Missense_H391Q indel.2566 1 39305316 [D/I] NM_001271851,NM_022157 RRAGC,RRAGC EXON JHU_1.39306072 1 39306073 [A/G] NM_001271851,NM_022157 RRAGC,RRAGC Silent,Silent JHU_1.39306081 1 39306082 [A/G] NM_001271851,NM_022157 RRAGC,RRAGC Silent,Silent JHU_1.39307039 1 39307040 [T/A] NM_001271851,NM_022157 RRAGC,RRAGC Silent,Silent 1:39307959-C-T 1 39307959 [T/C] NM_001271851,NM_022157 RRAGC,RRAGC Silent,Silent rs138838425 1 39312159 [T/C] NM_001271851,NM_022157 RRAGC,RRAGC Silent,Silent 1:39314049-C-A 1 39314049 [A/C] NM_001271851,NM_022157 RRAGC,RRAGC Silent,Silent rs72925115 1 39317163 [G/C] NM_001271851,NM_022157 RRAGC,RRAGC Silent,Silent exm46948 1 39317396 [T/C] NM_001271851,NM_022157 RRAGC,RRAGC EXON Missense_V230I,Missense_V264I JHU_1.39325135 1 39325136 [T/C] NM_001271851,NM_022157 RRAGC,RRAGC EXON Synonymous_K61K,Synonymous_K61K 1:39325267-CA 1 39325267 [A/C] NM_001271851,NM_022157 RRAGC,RRAGC EXON Missense_A18S,Missense_A18S 1:39325290-GT 1 39325290 [T/G] NM_001271851,NM_022157 RRAGC,RRAGC EXON Missense_T10K,Missense_T10K JHU_1.39325522 1 39325523 [A/G] JHU_1.39327063 1 39327064 [A/G] rs78483042 1 39327308 [A/G] indel.2567 1 39330363 [I/D] NR_037637,NR_037634,NR_037636,NR_037633,NR_037632,NM_012333,NR_037635 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,MYCBP,MYCBP,GJA9-MYCBP EXON 1:39331112-T-C 1 39331112 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037632,NM_012333,NR_037635 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,MYCBP,MYCBP,GJA9-MYCBP Silent,Silent,Silent,Silent,Silent,Silent,Silent exm46969 1 39332586 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037632,NM_012333,NR_037635 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,MYCBP,MYCBP,GJA9-MYCBP EXON Silent,Silent,Silent,Silent,Silent,Missense_A78V,Silent 1:39332623-GA 1 39332623 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037632,NM_012333,NR_037635 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,MYCBP,MYCBP,GJA9-MYCBP EXON Silent,Silent,Silent,Silent,Silent,Missense_R66C,Silent 1:39338691-CA 1 39338691 [A/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037632,NM_012333,NR_037635 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,MYCBP,MYCBP,GJA9-MYCBP EXON Silent,Silent,Silent,Silent,Silent,Missense_K29N,Silent 1:39338724-CA 1 39338724 [A/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037632,NM_012333,NR_037635 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,MYCBP,MYCBP,GJA9-MYCBP EXON Silent,Silent,Silent,Silent,Silent,Missense_L18F,Silent 1:39339164-G-A 1 39339164 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663 EXON Silent,Silent,Silent,Silent,Silent,Silent 1:39339449-CT 1 39339449 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663 EXON Silent,Silent,Silent,Silent,Silent,Silent JHU_1.39340001 1 39340002 [T/A] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:39340046-T-C 1 39340046 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:39340249-GA 1 39340249 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R508W exm46983 1 39340282 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V497I exm46984 1 39340381 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S464P exm46986 1 39340419 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T451I exm46987 1 39340423 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G450S 1:39340495-AG 1 39340495 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_W426R indel.2568 1 39340503 [I/D] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON exm46993 1 39340507 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L422F exm46994 1 39340558 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P405S variant.2569 1 39340560 [T/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_S404X 1:39340643-CTT-C 1 39340643 [I/D] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON exm47002 1 39340761 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S337N exm47005 1 39340812 [G/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_C320S exm47008 1 39340839 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_D311G 1:39341079-AG 1 39341079 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_F231S exm47016 1 39341193 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P193L 1:39341218-GA 1 39341218 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P185S variant.2572 1 39341248 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Q175X indel.2573 1 39341490 [I/D] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON 1:39341615-GT 1 39341615 [T/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_F52L 1:39341650-CT 1 39341650 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A41T exm47038 1 39341749 [T/C] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NR_135048,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,LOC105378663,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G8R 1:39342322-A-G 1 39342322 [A/G] NR_037637,NR_037634,NR_037636,NR_037633,NR_037635,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.39349013 1 39349014 [T/C] rs4970633 1 39350742 [T/C] rs4491033 1 39352083 [T/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Silent,Silent exm47042 1 39352271 [T/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_L273M,Missense_L353M 1:39352299-CT 1 39352299 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Synonymous_T263T,Synonymous_T343T 1:39352337-T-C 1 39352337 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_I251V,Missense_I331V 1:39353456-C-T 1 39353456 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent exm47048 1 39353636 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_P244L,Missense_P324L 1:39353669-T-C 1 39353669 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_Y233C,Missense_Y313C rs4414011 1 39354517 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent JHU_1.39355244 1 39355245 [A/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent JHU_1.39356950 1 39356951 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent rs11586225 1 39356975 [A/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent 1:39358853-AG 1 39358853 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_L218P,Missense_L298P rs150572338 1 39359787 [A/T] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent 1:39361647-A-G 1 39361647 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Synonymous_V201V,Synonymous_V281V 1:39361655-TC 1 39361655 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_M199V,Missense_M279V exm47054 1 39361681 [A/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_V190G,Missense_V270G 1:39361729-CA 1 39361729 [A/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_S174I,Missense_S254I rs12757585 1 39364343 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent JHU_1.39370185 1 39370186 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent 1:39372843-G-A 1 39372843 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent 1:39377029-C-T 1 39377029 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_R158H,Missense_R238H rs4246511 1 39380385 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent 1:39381241-G-T 1 39381241 [T/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_H130N,Missense_H210N 1:39381292-TC 1 39381292 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_S113G,Missense_S193G 1:39381293-GT 1 39381293 [T/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Nonsense_Y112X,Nonsense_Y192X rs6675870 1 39381576 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent 1:39383487-G-A 1 39383487 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent exm47064 1 39384638 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent 1:39384675-C-T 1 39384675 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Synonymous_P70P,Synonymous_P150P 1:39384676-G-A 1 39384676 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_P70L,Missense_P150L exm47068 1 39384709 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_R59Q,Missense_R139Q exm47071 1 39384766 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_A40V,Missense_A120V 1:39384767-CA 1 39384767 [A/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_A40S,Missense_A120S exm47075 1 39384826 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_M20T,Missense_M100T exm47078 1 39384860 [A/T] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_M9L,Missense_M89L 1:39384883-A-G 1 39384883 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Missense_M1T,Missense_M81T 1:39384932-C-T 1 39384932 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Silent,Missense_V65I rs75414548 1 39385714 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent 1:39388408-G-A 1 39388408 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent rs74711494 1 39388787 [A/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent rs9438994 1 39388838 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent rs12028802 1 39391214 [G/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent 1:39391697-GA 1 39391697 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent 1:39392488-A-G 1 39392488 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 Silent,Silent 1:39395107-C-T 1 39395107 [T/C] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Silent,Synonymous_L25L 1:39395123-AG 1 39395123 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Silent,Missense_V20A 1:39395166-GA 1 39395166 [A/G] NM_017821,NM_001304746 RHBDL2,RHBDL2 EXON Silent,Missense_R6W rs16825658 1 39395883 [A/G] NM_017821 RHBDL2 Silent 1:39395943-G-A 1 39395943 [A/G] NM_017821 RHBDL2 Silent rs6656771 1 39396070 [A/G] NM_017821 RHBDL2 Silent rs12042694 1 39396424 [T/C] NM_017821 RHBDL2 Silent 1:39396852-T-G 1 39396852 [T/G] NM_017821 RHBDL2 Silent JHU_1.39397212 1 39397213 [A/G] NM_017821 RHBDL2 Silent 1:39398510-A-G 1 39398510 [A/G] NM_017821 RHBDL2 Silent rs10749676 1 39398869 [A/C] NM_017821 RHBDL2 Silent 1:39403170-G-A 1 39403170 [A/G] NM_017821 RHBDL2 Silent JHU_1.39404550 1 39404551 [T/C] NM_017821 RHBDL2 Silent rs6422258 1 39406644 [T/C] NM_017821 RHBDL2 Silent rs151243331 1 39407472 [A/G] NM_017821 RHBDL2 EXON Silent rs7410967 1 39408545 [T/C] rs11807662 1 39409135 [A/G] JHU_1.39423079 1 39423080 [A/G] rs4512638 1 39424634 [T/C] rs10788886 1 39425214 [T/C] rs116300431 1 39425476 [A/C] 1:39426966-G-A 1 39426966 [A/G] rs7548458 1 39430262 [T/C] rs6665494 1 39431045 [T/C] JHU_1.39439376 1 39439377 [A/C] rs7537437 1 39439538 [A/G] rs74829317 1 39439644 [T/C] JHU_1.39441017 1 39441018 [A/G] 1:39443289-C-T 1 39443289 [T/C] rs4456083 1 39448388 [A/G] rs6703339 1 39450494 [A/G] 1:39451248-G-A 1 39451248 [A/G] JHU_1.39451247 1 39451248 [A/G] JHU_1.39451702 1 39451703 [T/C] rs6696013 1 39451857 [A/C] rs77966371 1 39452134 [T/G] rs74067028 1 39452567 [T/C] 1:39457245-GA 1 39457245 [A/G] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 EXON Missense_G65S,Missense_G65S JHU_1.39457850 1 39457851 [A/T] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent rs4660652 1 39457859 [A/G] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent rs114041894 1 39457910 [A/G] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent rs7553434 1 39458110 [A/G] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent rs10888609 1 39458204 [T/C] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent rs6660176 1 39460853 [A/G] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent rs139436907 1 39461048 [A/C] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent exm47090 1 39463950 [T/C] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 EXON Missense_H110Y,Missense_H110Y JHU_1.39464976 1 39464977 [A/G] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent rs10888612 1 39465145 [T/C] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent exm47094 1 39466734 [T/A] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 EXON Missense_K151I,Silent 1:39469063-CT 1 39469063 [T/C] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 EXON Nonsense_R181X,Nonsense_R136X rs74494482 1 39469264 [A/G] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent rs10888621 1 39472585 [A/G] JHU_1.39477293 1 39477294 [T/C] JHU_1.39479422 1 39479423 [A/C] JHU_1.39482179 1 39482180 [A/G] JHU_1.39482929 1 39482930 [T/C] JHU_1.39482930 1 39482931 [A/G] JHU_1.39488334 1 39488335 [C/G] JHU_1.39490635 1 39490636 [A/G] rs74603394 1 39491911 [A/C] 1:39492462-C-T 1 39492462 [T/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 Silent,Silent variant.2578 1 39494490 [T/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Nonsense_R32X,Nonsense_R32X exm47115 1 39494611 [T/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Missense_T72M,Missense_T72M 1:39500124-AG 1 39500124 [A/G] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Missense_T93A,Missense_T93A variant.2579 1 39500133 [T/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Missense_P96S,Missense_P96S rs192512172 1 39500140 [A/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Missense_H98P,Missense_H98P rs146279654 1 39500141 [A/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Missense_H98Q,Missense_H98Q JHU_1.39500838 1 39500839 [T/C] JHU_1.39502985 1 39502986 [A/C] rs10888650 1 39507161 [A/G] rs10465799 1 39518006 [A/G] rs184397748 1 39520367 [A/C] JHU_1.39525076 1 39525077 [T/A] JHU_1.39526545 1 39526546 [A/C] rs9786967 1 39528071 [A/G] rs34426883 1 39535259 [T/C] rs9659165 1 39545269 [T/C] rs260974 1 39548798 [T/G] JHU_1.39549110 1 39549111 [T/C] JHU_1.39549982 1 39549983 [A/G] NM_012090 MACF1 EXON Synonymous_S31S JHU_1.39550209 1 39550210 [T/C] NM_012090 MACF1 Silent JHU_1.39550249 1 39550250 [T/C] NM_012090 MACF1 Silent JHU_1.39550260 1 39550261 [T/C] NM_012090 MACF1 Silent JHU_1.39550466 1 39550467 [A/G] NM_012090 MACF1 Silent JHU_1.39550538 1 39550539 [G/C] NM_012090 MACF1 Silent JHU_1.39550573 1 39550574 [T/C] NM_012090 MACF1 Silent JHU_1.39550607 1 39550608 [A/G] NM_012090 MACF1 Silent JHU_1.39550822 1 39550823 [T/C] NM_012090 MACF1 Silent rs59102092 1 39551423 [A/C] NM_012090 MACF1 Silent JHU_1.39551422 1 39551423 [A/C] NM_012090 MACF1 Silent rs11205632 1 39555643 [A/G] NM_012090 MACF1 Silent JHU_1.39556089 1 39556090 [T/C] NM_012090 MACF1 Silent JHU_1.39556667 1 39556668 [T/C] NM_012090 MACF1 Silent rs440753 1 39560781 [A/C] NM_012090 MACF1 Silent JHU_1.39564098 1 39564099 [G/C] NM_012090 MACF1 Silent rs12117367 1 39565906 [A/G] NM_012090 MACF1 Silent JHU_1.39568105 1 39568106 [C/G] NM_012090 MACF1 Silent JHU_1.39568112 1 39568113 [G/C] NM_012090 MACF1 Silent rs6667815 1 39568249 [A/G] NM_012090 MACF1 Silent 1:39568567-T-C 1 39568567 [T/C] NM_012090 MACF1 Silent rs2282232 1 39568765 [T/C] NM_012090 MACF1 Silent 1:39571378-AG 1 39571378 [A/G] NM_012090 MACF1 Silent rs7535282 1 39571881 [T/G] NM_012090 MACF1 Silent rs115297363 1 39572541 [A/G] NM_012090 MACF1 Silent JHU_1.39573218 1 39573219 [A/C] NM_012090 MACF1 Silent rs75854661 1 39574057 [T/C] NM_012090 MACF1 Silent rs74069434 1 39575761 [A/G] NM_012090 MACF1 Silent rs149854261 1 39576468 [A/G] NM_012090 MACF1 Silent JHU_1.39579719 1 39579720 [T/G] NM_012090 MACF1 Silent JHU_1.39579858 1 39579859 [T/G] NM_012090 MACF1 Silent rs75068657 1 39580599 [A/G] NM_012090 MACF1 Silent rs11580989 1 39583686 [T/C] NM_012090 MACF1 Silent rs11205665 1 39590824 [T/C] NM_012090 MACF1 Silent rs79163542 1 39595645 [A/G] NM_012090 MACF1 Silent 1:39598860-A-G 1 39598860 [A/G] NM_012090 MACF1 Silent JHU_1.39611199 1 39611200 [T/C] NM_012090 MACF1 Silent rs12145367 1 39626338 [G/C] NM_012090 MACF1 Silent JHU_1.39633559 1 39633560 [A/G] NM_012090 MACF1 Silent rs147861184 1 39639562 [A/G] NM_012090 MACF1 Silent JHU_1.39639775 1 39639776 [A/G] NM_012090 MACF1 Silent rs6667838 1 39642050 [G/C] NM_012090 MACF1 Silent 1:39643830-C-T 1 39643830 [T/C] NM_012090 MACF1 Silent rs560372 1 39644067 [A/G] NM_012090 MACF1 Silent rs80232192 1 39646557 [A/G] NM_012090 MACF1 Silent rs1537818 1 39647038 [A/G] NM_012090 MACF1 Silent rs7538300 1 39652764 [A/C] NM_012090 MACF1 Silent rs7542506 1 39655675 [A/G] NM_012090 MACF1 Silent rs12566054 1 39661593 [A/T] NM_012090 MACF1 Silent rs144940550 1 39663629 [A/G] NM_012090 MACF1 Silent JHU_1.39698417 1 39698418 [T/G] NM_012090 MACF1 Silent rs16837533 1 39703847 [A/G] NM_012090 MACF1 Silent rs17503527 1 39713908 [C/G] NM_012090 MACF1 Silent exm47137 1 39715702 [A/G] NM_012090 MACF1 EXON Missense_N100S rs143656828 1 39721721 [A/G] NM_012090 MACF1 Silent rs4660214 1 39731550 [T/C] NM_012090 MACF1 Silent 1:39734438-AG 1 39734438 [A/G] NM_012090 MACF1 Silent 1:39734457-CT 1 39734457 [T/C] NM_012090 MACF1 Silent 1:39734662-GA 1 39734662 [A/G] NM_012090 MACF1 Silent 1:39734724-GA 1 39734724 [A/G] NM_012090 MACF1 Silent 1:39734958-CT 1 39734958 [T/C] NM_012090 MACF1 Silent 1:39735177-GA 1 39735177 [A/G] NM_012090 MACF1 Silent rs2252410 1 39744607 [T/G] NM_012090 MACF1 Silent variant.2582 1 39748046 [A/G] NM_012090 MACF1 EXON Missense_R237Q 1:39749186-CT 1 39749186 [T/C] NM_012090 MACF1 EXON Missense_T310M rs191298596 1 39749186 [T/C] NM_012090 MACF1 EXON Missense_T310M rs2039597 1 39749884 [T/G] NM_012090 MACF1 Silent rs138793427 1 39750608 [T/C] NM_012090 MACF1 Silent 1:39751390-CT 1 39751390 [T/C] NM_012090 MACF1 EXON Missense_R495W rs186809071 1 39751423 [A/G] NM_012090 MACF1 EXON Missense_A506T exm1801712 1 39751423 [A/G] NM_012090 MACF1 EXON Missense_A506T JHU_1.39752142 1 39752143 [T/C] NM_012090 MACF1 Silent 1:39753178-GA 1 39753178 [A/G] NM_012090 MACF1 EXON Missense_D582N 1:39753360-G-T 1 39753360 [T/G] NM_012090 MACF1 Silent exm47181 1 39758439 [T/G] NM_012090 MACF1 EXON Missense_G644V rs2484749 1 39758955 [A/G] NM_012090 MACF1 Silent JHU_1.39759742 1 39759743 [A/G] NM_012090 MACF1 Silent 1:39763308-GA 1 39763308 [A/G] NM_012090 MACF1 EXON Missense_R796Q exm47195 1 39763365 [T/G] NM_012090 MACF1 EXON Missense_C815F newrs74718295 1 39775245 [T/C] NM_012090 MACF1 EXON Synonymous_V936V rs139801751 1 39775303 [A/G] NM_012090 MACF1 EXON Missense_S956G exm47214 1 39775303 [A/G] NM_012090 MACF1 EXON Missense_S956G 1:39776024-CTGATCGCTTGCGCT-C 1 39776024 [I/D] NM_012090 MACF1 EXON rs199616867 1 39776067 [T/C] NM_012090 MACF1 EXON Missense_R1028C 1:39776523-GA 1 39776523 [A/G] NM_012090 MACF1 EXON Missense_A1046T rs201607258 1 39776557 [A/G] NM_012090 MACF1 EXON Missense_R1057Q exm1801747 1 39776557 [A/G] NM_012090 MACF1 EXON Missense_R1057Q JHU_1.39779609 1 39779610 [T/C] NM_012090 MACF1 Silent exm47241 1 39781321 [A/G] NM_012090 MACF1 EXON Missense_K1141R exm1801750 1 39781350 [A/G] NM_012090 MACF1 EXON Missense_V1151I exm47244 1 39782063 [A/G] NM_012090 MACF1 EXON Synonymous_K1155K 1:39782893-TC 1 39782893 [T/C] NM_012090 MACF1 EXON Missense_L1204P rs138873333 1 39783013 [T/G] NM_012090 MACF1 EXON Missense_R1244L exm47252 1 39783013 [T/G] NM_012090 MACF1 EXON Missense_R1244L exm47253 1 39783025 [A/T] NM_012090 MACF1 EXON Missense_K1248I rs62622784 1 39783025 [A/T] NM_012090 MACF1 EXON Missense_K1248I variant.2585 1 39783084 [A/G] NM_012090 MACF1 Silent exm2233329 1 39784125 [T/C] NM_012090 MACF1 EXON Synonymous_R1266R 1:39784265-CT 1 39784265 [T/C] NM_012090 MACF1 EXON Missense_S1313L rs112943833 1 39784730 [A/G] NM_012090 MACF1 Silent exm47264 1 39785384 [G/C] NM_012090 MACF1 EXON Missense_Q1337E newrs146105375 1 39785424 [A/C] NM_012090 MACF1 Silent rs3116389 1 39785641 [A/G] NM_012090 MACF1 Silent exm47268 1 39788295 [A/C] NM_012090 MACF1 EXON Missense_L1354M 1:39788350-GA 1 39788350 [A/G] NM_012090 MACF1 EXON Missense_R1372H rs202118871 1 39788600 [A/C] NM_012090 MACF1 EXON Missense_R1391S rs148253091 1 39788664 [A/G] NM_012090 MACF1 EXON Missense_R1412H exm47276 1 39788664 [A/G] NM_012090 MACF1 EXON Missense_R1412H exm47277 1 39789890 [T/A] NM_012090 MACF1 EXON Missense_E1426V exm47281 1 39790337 [T/C] NM_012090 MACF1 EXON Missense_T1475I exm1801771 1 39792931 [A/G] NM_012090 MACF1 EXON Missense_N1512S 1:39793008-TCAC-T 1 39793008 [D/I] NM_012090 MACF1 EXON rs79260697 1 39794578 [T/G] NM_012090 MACF1 Silent rs117657714 1 39796339 [A/G] NM_012090 MACF1 Silent 1:39796873-AT 1 39796873 [A/T] NM_012090 MACF1 Silent exm47295 1 39797055 [A/G] NM_012090 MACF1 Silent 1:39797097-CT 1 39797097 [T/C] NM_012090 MACF1 Silent exm47299 1 39797106 [A/C] NM_012090 MACF1 Silent 1:39797173-TC 1 39797173 [T/C] NM_012090 MACF1 Silent exm47306 1 39797244 [A/C] NM_012090 MACF1 Silent 1:39797284-CA 1 39797284 [A/C] NM_012090 MACF1 Silent indel.2587 1 39797336 [I/D] NM_012090 MACF1 variant.2588 1 39797421 [T/C] NM_012090 MACF1 Silent exm1801773 1 39797491 [A/G] NM_012090 MACF1 Silent exm47320 1 39797544 [A/G] NM_012090 MACF1 Silent 1:39797550-CT 1 39797550 [T/C] NM_012090 MACF1 Silent exm1801774 1 39797583 [A/G] NM_012090 MACF1 Silent 1:39797701-TC 1 39797701 [T/C] NM_012090 MACF1 Silent indel.2589 1 39797747 [I/D] NM_012090 MACF1 exm47329 1 39797749 [A/G] NM_012090 MACF1 Silent 1:39797994-GA 1 39797994 [A/G] NM_012090 MACF1 Silent exm47341 1 39798016 [T/C] NM_012090 MACF1 Silent exm1801776 1 39798037 [T/G] NM_012090 MACF1 Silent exm2251605 1 39798101 [A/G] NM_012090 MACF1 Silent exm47345 1 39798120 [A/G] NM_012090 MACF1 Silent 1:39798145-AG 1 39798145 [A/G] NM_012090 MACF1 Silent 1KG_1_39798401 1 39798401 [I/D] NM_012090 MACF1 1:39798417-GA 1 39798417 [A/G] NM_012090 MACF1 Silent exm47354 1 39798433 [T/C] NM_012090 MACF1 Silent 1:39798465-AG 1 39798465 [A/G] NM_012090 MACF1 Silent 1:39798483-GA 1 39798483 [A/G] NM_012090 MACF1 Silent exm47359 1 39798525 [A/C] NM_012090 MACF1 Silent 1KG_1_39798630 1 39798630 [I/D] NM_012090 MACF1 exm47363 1 39798682 [T/G] NM_012090 MACF1 Silent 1:39798740-TG 1 39798740 [T/G] NM_012090 MACF1 Silent exm47366 1 39798745 [G/C] NM_012090 MACF1 Silent rs16826075 1 39798767 [A/G] NM_012090 MACF1 Silent exm47373 1 39798831 [T/C] NM_012090 MACF1 Silent exm47374 1 39798843 [T/C] NM_012090 MACF1 Silent exm47376 1 39798946 [T/C] NM_012090 MACF1 Silent 1:39798993-GA 1 39798993 [A/G] NM_012090 MACF1 Silent exm47386 1 39799041 [A/G] NM_012090 MACF1 Silent 1:39799063-AG 1 39799063 [A/G] NM_012090 MACF1 Silent exm47389 1 39799186 [A/G] NM_012090 MACF1 Silent 1:39799201-GA 1 39799201 [A/G] NM_012090 MACF1 Silent exm2273639 1 39799263 [T/C] NM_012090 MACF1 Silent exm47392 1 39799293 [A/G] NM_012090 MACF1 Silent variant.2591 1 39799506 [T/C] NM_012090 MACF1 Silent 1:39799537-CT 1 39799537 [T/C] NM_012090 MACF1 Silent 1:39799570-CT 1 39799570 [T/C] NM_012090 MACF1 Silent exm47406 1 39799629 [A/G] NM_012090 MACF1 Silent exm47409 1 39799687 [G/C] NM_012090 MACF1 Silent exm47418 1 39799891 [T/A] NM_012090 MACF1 Silent exm47419 1 39799912 [T/C] NM_012090 MACF1 Silent exm47434 1 39800299 [T/C] NM_012090 MACF1 Silent indel.2592 1 39800499 [D/I] NM_012090 MACF1 exm47442 1 39800541 [A/G] NM_012090 MACF1 Silent exm47449 1 39800699 [T/A] NM_012090 MACF1 Silent 1:39800707-AC 1 39800707 [A/C] NM_012090 MACF1 Silent exm47450 1 39800728 [A/G] NM_012090 MACF1 Silent 1:39800965-TC 1 39800965 [T/C] NM_012090 MACF1 Silent exm47455 1 39801081 [A/G] NM_012090 MACF1 Silent exm2233334 1 39801085 [T/C] NM_012090 MACF1 Silent 1:39801228-AG 1 39801228 [A/G] NM_012090 MACF1 Silent exm47460 1 39801435 [T/G] NM_012090 MACF1 Silent exm47461 1 39801469 [A/G] NM_012090 MACF1 Silent 1:39801532-GA 1 39801532 [A/G] NM_012090 MACF1 Silent exm47463 1 39801540 [A/G] NM_012090 MACF1 Silent exm47465 1 39801570 [A/T] NM_012090 MACF1 Silent indel.2594 1 39801617 [I/D] NM_012090 MACF1 1:39801663-TC 1 39801663 [T/C] NM_012090 MACF1 Silent exm47472 1 39801771 [A/C] NM_012090 MACF1 Silent exm47473 1 39801787 [T/G] NM_012090 MACF1 Silent 1:39801815-AC 1 39801815 [A/C] NM_012090 MACF1 Silent exm47477 1 39801815 [A/C] NM_012090 MACF1 Silent 1:39802057-TC 1 39802057 [T/C] NM_012090 MACF1 Silent exm47490 1 39802168 [A/C] NM_012090 MACF1 Silent exm47493 1 39802283 [C/G] NM_012090 MACF1 Silent 1:39802285-GT 1 39802285 [T/G] NM_012090 MACF1 Silent JHU_1.39802492 1 39802493 [A/G] NM_012090 MACF1 Silent 1:39802866-CT 1 39802866 [T/C] NM_012090 MACF1 Silent variant.2595 1 39806186 [T/G] NM_012090 MACF1 Silent exm47507 1 39806566 [A/G] NM_012090 MACF1 Silent indel.2597 1 39806578 [I/D] NM_012090 MACF1 rs3116396 1 39806610 [T/C] NM_012090 MACF1 Silent exm2233336 1 39816512 [T/A] NM_012090 MACF1 EXON Missense_D1612V exm47529 1 39816547 [G/C] NM_012090 MACF1 EXON Missense_L1624V 1:39816557-GA 1 39816557 [A/G] NM_012090 MACF1 EXON Missense_R1627H exm47531 1 39816571 [T/C] NM_012090 MACF1 EXON Missense_L1632F exm47533 1 39816610 [T/G] NM_012090 MACF1 EXON Missense_A1645S exm47535 1 39816626 [T/C] NM_012090 MACF1 EXON Missense_T1650I rs139173278 1 39818653 [T/C] NM_012090 MACF1 Silent 1:39818680-GA 1 39818680 [A/G] NM_012090 MACF1 EXON Missense_S1672N exm47538 1 39818739 [A/G] NM_012090 MACF1 EXON Missense_V1692I 1:39818813-CA 1 39818813 [A/C] NM_012090 MACF1 EXON Missense_S1716R exm47543 1 39818884 [A/G] NM_012090 MACF1 EXON Missense_K1740R JHU_1.39819927 1 39819928 [C/G] NM_012090 MACF1 Silent exm47552 1 39823135 [A/G] NM_012090 MACF1 EXON Missense_N1776S exm47554 1 39823159 [T/C] NM_012090 MACF1 EXON Missense_M1784T 1:39823335-AG 1 39823335 [A/G] NM_012090 MACF1 EXON Missense_K1843E 1:39823365-TC 1 39823365 [T/C] NM_012090 MACF1 EXON Missense_S1853P 1:39823494-TC 1 39823494 [T/C] NM_012090 MACF1 EXON Missense_S1896P exm47578 1 39824468 [A/G] NM_012090 MACF1 EXON Missense_A1953T 1:39824474-GA 1 39824474 [A/G] NM_012090 MACF1 EXON Missense_V1955M newrs148300193 1 39824545 [A/G] NM_012090 MACF1 EXON Synonymous_K1978K 1:39824879-AG 1 39824879 [A/G] NM_012090 MACF1 EXON Missense_I2001V exm47586 1 39824930 [A/G] NM_012090 MACF1 EXON Missense_T2018A rs138693822 1 39826491 [T/C] NM_012090 MACF1 EXON Missense_L2029F exm47592 1 39826587 [A/G] NM_012090 MACF1 EXON Missense_I2061V 1:39826651-AG 1 39826651 [A/G] NM_012090 MACF1 EXON Missense_Q2082R exm2273640 1 39827080 [T/C] NM_012090 MACF1 EXON Missense_R2106C 1:39827247-CA 1 39827247 [A/C] NM_012090 MACF1 EXON Missense_H2161Q 1:39827329-CA 1 39827329 [A/C] NM_012090 MACF1 EXON Missense_H2189N JHU_1.39828448 1 39828449 [A/G] NM_012090 MACF1 Silent rs145646053 1 39833826 [T/A] NM_012090 MACF1 EXON Missense_N2198Y exm2233338 1 39833826 [T/A] NM_012090 MACF1 EXON Missense_N2198Y 1:39833833-AG 1 39833833 [A/G] NM_012090 MACF1 EXON Missense_E2200G rs138189653 1 39833833 [A/G] NM_012090 MACF1 EXON Missense_E2200G variant.2599 1 39833986 [A/G] NM_012090 MACF1 EXON Missense_R2251K exm47614 1 39835817 [A/G] NM_012090 MACF1 EXON Missense_M2290V exm47615 1 39835830 [A/T] NM_012090 MACF1 EXON Missense_E2294V exm47616 1 39835843 [T/G] NM_012090 MACF1 EXON Missense_Q2298H exm47619 1 39838200 [A/G] NM_012090 MACF1 EXON Missense_N2320S rs149366946 1 39838231 [C/G] NM_012090 MACF1 EXON Missense_I2330M rs143141361 1 39838244 [A/G] NM_012090 MACF1 EXON Missense_A2335T exm47622 1 39838268 [C/G] NM_012090 MACF1 EXON Missense_G2343R rs146021397 1 39838268 [C/G] NM_012090 MACF1 EXON Missense_G2343R JHU_1.39840503 1 39840504 [T/C] NM_012090 MACF1 Silent JHU_1.39842082 1 39842083 [A/G] NM_012090 MACF1 Silent exm47623 1 39844154 [A/G] NM_012090 MACF1 EXON Missense_G2350E exm47628 1 39844949 [T/C] NM_012090 MACF1 EXON Missense_R2389C rs187137636 1 39847651 [T/G] NM_012090 MACF1 EXON Missense_V2497F exm47632 1 39847651 [T/G] NM_012090 MACF1 EXON Missense_V2497F exm47635 1 39847730 [A/G] NM_012090 MACF1 EXON Missense_R2523Q exm47643 1 39851239 [A/G] NM_012090 MACF1 EXON Missense_N2599S 1:39851338-AC 1 39851338 [A/C] NM_012090 MACF1 EXON Missense_D2632A exm47653 1 39851427 [A/G] NM_012090 MACF1 EXON Missense_E2662K JHU_1.39851912 1 39851913 [C/G] NM_012090 MACF1 Silent exm47661 1 39852860 [T/C] NM_012090 MACF1 EXON Synonymous_A2720A exm47662 1 39852883 [T/C] NM_012090 MACF1 EXON Missense_A2728V rs139258331 1 39852883 [T/C] NM_012090 MACF1 EXON Missense_A2728V exm47664 1 39852984 [A/G] NM_012090 MACF1 EXON Missense_A2762T exm47665 1 39852985 [T/C] NM_012090 MACF1 EXON Missense_A2762V 1:39853210-AG 1 39853210 [A/G] NM_012090 MACF1 EXON Missense_K2837R 1:39853368-GA 1 39853368 [A/G] NM_012090 MACF1 EXON Missense_V2890M rs147777128 1 39853640 [A/C] NM_012090 MACF1 EXON Missense_Q2980H exm47686 1 39853640 [A/C] NM_012090 MACF1 EXON Missense_Q2980H exm47687 1 39853641 [T/G] NM_012090 MACF1 EXON Missense_A2981S rs144760259 1 39853641 [T/G] NM_012090 MACF1 EXON Missense_A2981S chr1_39853645 1 39853645 [T/G] NM_012090 MACF1 EXON Missense_C2982F exm47691 1 39853800 [A/G] NM_012090 MACF1 EXON Missense_A3034T rs184827427 1 39853893 [T/C] NM_012090 MACF1 EXON Missense_R3065W rs199498174 1 39853894 [A/G] NM_012090 MACF1 EXON Missense_R3065Q exm47699 1 39853959 [A/G] NM_012090 MACF1 EXON Missense_G3087S rs141166701 1 39853959 [A/G] NM_012090 MACF1 EXON Missense_G3087S 1:39853992-GA 1 39853992 [A/G] NM_012090 MACF1 EXON Missense_E3098K rs181850215 1 39853992 [A/G] NM_012090 MACF1 EXON Missense_E3098K exm47701 1 39854002 [A/G] NM_012090 MACF1 EXON Missense_R3101Q rs201770692 1 39854062 [A/G] NM_012090 MACF1 EXON Missense_C3121Y chr1_39854067 1 39854067 [T/C] NM_012090 MACF1 EXON Missense_H3123Y exm47703 1 39854156 [C/G] NM_012090 MACF1 EXON Missense_E3152D 1:39854170-GA 1 39854170 [A/G] NM_012090 MACF1 EXON Missense_R3157H 1:39854290-CA 1 39854290 [A/C] NM_012090 MACF1 EXON Missense_T3197N exm47711 1 39854308 [A/G] NM_012090 MACF1 EXON Missense_N3203S JHU_1.39859956 1 39859957 [A/G] NM_012090 MACF1 Silent JHU_1.39866108 1 39866109 [A/T] NM_012090 MACF1 Silent rs616630 1 39871926 [A/G] NM_012090 MACF1 Silent exm47715 1 39876086 [A/T] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_Q50L 1:39876332-CT 1 39876332 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_S132L exm47729 1 39876421 [T/A] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_N162Y 1:39876493-GA 1 39876493 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E186K exm47733 1 39876573 [A/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_L212F exm47739 1 39876686 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_Q250R chr1_39876800 1 39876800 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_P288L 1:39876851-TG 1 39876851 [T/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_V305G exm47750 1 39876934 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E333K 1:39877495-CT 1 39877495 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_H520Y exm47769 1 39877514 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_V526A chr1_39877780 1 39877780 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_K615E exm47781 1 39877829 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_L631S 1:39877954-TC 1 39877954 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_Y673H exm47790 1 39878015 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_Q693R exm47792 1 39878081 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_C715Y exm47793 1 39878089 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_D718N variant.2604 1 39878131 [T/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Nonsense_E732X 1:39878168-CT 1 39878168 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_P744L exm47797 1 39878195 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_R753K exm47800 1 39878311 [T/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_S792A chr1_39878407 1 39878407 [T/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_L824V exm47804 1 39878413 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E826K exm47805 1 39878414 [A/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E826A exm47806 1 39878425 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_V830I exm47808 1 39878443 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_R836W exm47809 1 39878485 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A850T exm47811 1 39878567 [G/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_P877R exm47812 1 39878599 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_I888V 1:39878704-GA 1 39878704 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_V923I exm47814 1 39878741 [G/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A935G exm47817 1 39878785 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_G950R 1:39878806-GT 1 39878806 [T/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A957S exm47821 1 39878815 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_I960V 1:39878893-GA 1 39878893 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E986K 1:39878911-GA 1 39878911 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_V992I 1:39878938-GA 1 39878938 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A1001T 1:39879619-CT 1 39879619 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_P1228S 1:39879629-TC 1 39879629 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_L1231P 1:39879643-TC 1 39879643 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_S1236P exm47876 1 39879905 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_A1323V exm47882 1 39880013 [T/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_L1359P exm47883 1 39880019 [A/C] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Missense_E1361A variant.2606 1 39880215 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Nonsense_W1426X variant.2607 1 39888184 [T/C] NM_012090 MACF1 EXON Nonsense_R3257X exm47888 1 39888185 [A/G] NM_012090 MACF1 EXON Missense_R3257Q variant.2608 1 39888577 [A/G] NM_012090 MACF1 Silent chr1_39889720 1 39889720 [T/G] NM_012090 MACF1 EXON Missense_D3328E exm47901 1 39889792 [T/G] NM_012090 MACF1 EXON Missense_D3352E rs200516627 1 39889792 [T/G] NM_012090 MACF1 EXON Missense_D3352E exm47904 1 39889856 [T/G] NM_012090 MACF1 EXON Missense_A3374S JHU_1.39890437 1 39890438 [A/G] NM_012090 MACF1 Silent rs150229499 1 39893177 [T/C] NM_012090 MACF1 EXON Missense_T3394I exm47907 1 39893177 [T/C] NM_012090 MACF1 EXON Missense_T3394I rs78918472 1 39893281 [T/C] NM_012090 MACF1 EXON Missense_H3429Y exm47914 1 39893676 [A/G] NM_012090 MACF1 EXON Missense_Q3445R exm47915 1 39893706 [C/G] NM_012090 MACF1 EXON Missense_S3455C rs188914563 1 39893766 [A/G] NM_012090 MACF1 EXON Missense_R3475Q 1:39893793-GT 1 39893793 [T/G] NM_012090 MACF1 EXON Missense_C3484F rs201218871 1 39893823 [T/A] NM_012090 MACF1 EXON Missense_L3494Q 1:39893868-AC 1 39893868 [A/C] NM_012090 MACF1 EXON Missense_N3509T exm47921 1 39893909 [A/G] NM_012090 MACF1 EXON Missense_V3523I 1:39895517-TC 1 39895517 [T/C] NM_012090 MACF1 EXON Missense_I3574T exm47928 1 39895535 [A/G] NM_012090 MACF1 EXON Missense_G3580D rs145430083 1 39895727 [A/T] NM_012090 MACF1 EXON Missense_Q3644L exm47932 1 39895727 [A/T] NM_012090 MACF1 EXON Missense_Q3644L rs599823 1 39897271 [T/C] NM_012090 MACF1 Silent rs144615050 1 39898283 [A/G] NM_012090 MACF1 EXON Missense_R3743H exm47940 1 39898283 [A/G] NM_012090 MACF1 EXON Missense_R3743H rs191534437 1 39899420 [A/G] NM_012090 MACF1 Silent rs138450442 1 39900230 [T/C] NM_012090 MACF1 EXON Missense_R3842W exm47948 1 39900230 [T/C] NM_012090 MACF1 EXON Missense_R3842W rs201353828 1 39901342 [A/G] NM_012090 MACF1 EXON Missense_Y3904C 1:39902157-AG 1 39902157 [A/G] NM_012090 MACF1 Silent exm47957 1 39903464 [A/G] NM_012090 MACF1 EXON Missense_E3943K 1:39903506-CT 1 39903506 [T/C] NM_012090 MACF1 EXON Missense_R3957C rs199850991 1 39903620 [T/C] NM_012090 MACF1 EXON Missense_R3995C 1:39903870-G-A 1 39903870 [A/G] NM_012090 MACF1 Silent rs80051515 1 39904123 [A/G] NM_012090 MACF1 Silent rs200319787 1 39905012 [A/G] NM_012090 MACF1 EXON Missense_R4037Q rs10489935 1 39906659 [A/G] NM_012090 MACF1 Silent 1:39906906-CT 1 39906906 [T/C] NM_012090 MACF1 EXON Missense_A4135V exm2233347 1 39907673 [T/C] NM_012090 MACF1 EXON Missense_P4182L rs138510628 1 39907891 [A/C] NM_012090 MACF1 EXON Missense_K4224Q 1:39907928-GA 1 39907928 [A/G] NM_012090 MACF1 EXON Missense_R4236Q exm47982 1 39907949 [A/G] NM_012090 MACF1 EXON Missense_K4243R exm47994 1 39908506 [A/G] NM_012090 MACF1 EXON Missense_A4350T exm2251610 1 39908580 [A/G] NM_012090 MACF1 EXON Synonymous_Q4374Q exm2251611 1 39909159 [A/G] NM_012090 MACF1 EXON Synonymous_E4389E exm48000 1 39909159 [A/G] NM_012090 MACF1 EXON Synonymous_E4389E rs200974304 1 39909220 [T/G] NM_012090 MACF1 EXON Missense_A4410S exm48003 1 39909220 [T/G] NM_012090 MACF1 EXON Missense_A4410S JHU_1.39909554 1 39909555 [A/G] NM_012090 MACF1 Silent exm48005 1 39910413 [A/G] NM_012090 MACF1 EXON Missense_R4445H exm48008 1 39910477 [T/G] NM_012090 MACF1 EXON Missense_H4466Q 1:39914353-CT 1 39914353 [T/C] NM_012090 MACF1 EXON Missense_P4667S rs146089082 1 39917864 [A/G] NM_012090 MACF1 EXON Missense_V4760I exm48035 1 39917864 [A/G] NM_012090 MACF1 EXON Missense_V4760I exm2251612 1 39917872 [T/C] NM_012090 MACF1 EXON Synonymous_V4762V rs180745507 1 39918417 [T/C] NM_012090 MACF1 EXON Missense_T4833M 1:39918471-TC 1 39918471 [T/C] NM_012090 MACF1 EXON Missense_I4851T rs687848 1 39919234 [A/G] NM_012090 MACF1 Silent exm2264825 1 39919234 [A/G] NM_012090 MACF1 Silent exm48058 1 39920726 [T/C] NM_012090 MACF1 EXON Missense_P4952L rs145113396 1 39920726 [T/C] NM_012090 MACF1 EXON Missense_P4952L exm48060 1 39920758 [A/G] NM_012090 MACF1 EXON Missense_A4963T JHU_1.39921357 1 39921358 [A/G] NM_012090 MACF1 Silent rs183077332 1 39924064 [T/G] NM_012090 MACF1 EXON Missense_R4974L rs188161549 1 39924151 [A/G] NM_012090 MACF1 EXON Missense_R5003H exm48066 1 39924156 [A/G] NM_012090 MACF1 EXON Missense_G5005R newrs145079541 1 39924162 [A/G] NM_012090 MACF1 EXON Missense_R5007G exm48072 1 39924770 [A/G] NM_012090 MACF1 EXON Missense_S5011N 1:39924907-GA 1 39924907 [A/G] NM_012090 MACF1 EXON Missense_D5057N newrs151293171 1 39924926 [T/C] NM_012090 MACF1 Silent exm48096 1 39934315 [T/G] NM_012090 MACF1 EXON Missense_V5202G rs2275767 1 39945297 [T/C] NM_012090 MACF1 Silent rs183345423 1 39945581 [A/G] NM_012090 MACF1 EXON Missense_R5269Q exm48105 1 39945581 [A/G] NM_012090 MACF1 EXON Missense_R5269Q exm48106 1 39945661 [A/C] NM_012090 MACF1 EXON Missense_T5296P 1:39945662-CA 1 39945662 [A/C] NM_012090 MACF1 EXON Missense_T5296N JHU_1.39946329 1 39946330 [A/T] NM_012090 MACF1 Silent rs1626267 1 39947473 [A/G] NM_012090 MACF1 Silent JHU_1.39948784 1 39948785 [A/C] NM_012090 MACF1 Silent 1:39950376-CT 1 39950376 [T/C] NM_012090 MACF1 EXON Missense_S5337F exm2251614 1 39950377 [T/C] NM_012090 MACF1 EXON Synonymous_S5337S 1:39950418-GA 1 39950418 [A/G] NM_012090 MACF1 Silent 1:39950459-AG 1 39950459 [A/G] NM_012090 MACF1 Silent JHU_1.39950540 1 39950541 [A/G] NM_012090 MACF1 Silent 1:39951225-CT 1 39951225 [T/C] NM_012090 MACF1 EXON Missense_A5351V rs77696779 1 39951243 [A/G] NM_012090 MACF1 EXON Missense_R5357Q exm48120 1 39951243 [A/G] NM_012090 MACF1 EXON Missense_R5357Q exm48128 1 39951304 [T/G] NM_012090 MACF1 EXON Missense_F5377L 1:39951462-GA 1 39951462 [A/G] NM_012090 MACF1 EXON Missense_R5430Q rs710915 1 39952745 [A/G] NM_012090 MACF1 EXON Silent exm2268879 1 39952822 [T/C] JHU_1.39955900 1 39955901 [A/C] JHU_1.39955915 1 39955916 [A/G] chr1_39957944 1 39957944 [T/C] NM_181809 BMP8A EXON Missense_P94L chr1_39957991 1 39957991 [A/C] NM_181809 BMP8A EXON Missense_N110H JHU_1.39962669 1 39962670 [T/G] NM_181809 BMP8A Silent rs698141 1 39965761 [A/G] NM_181809 BMP8A Silent rs1775650 1 39969828 [A/G] NM_181809 BMP8A Silent rs74069347 1 39972508 [T/C] NM_181809 BMP8A Silent rs941280 1 39975241 [G/C] NM_181809 BMP8A Silent rs2002968 1 39975615 [A/G] NM_181809 BMP8A Silent JHU_1.39975614 1 39975615 [A/G] NM_181809 BMP8A Silent JHU_1.39976095 1 39976096 [G/C] NM_181809 BMP8A Silent rs2260479 1 39976363 [T/C] NM_181809 BMP8A Silent JHU_1.39982423 1 39982424 [G/C] NM_181809 BMP8A Silent JHU_1.39983273 1 39983274 [T/C] NM_181809 BMP8A Silent JHU_1.39983499 1 39983500 [C/G] NM_181809 BMP8A Silent 1:39987214-A-G 1 39987214 [A/G] NM_181809 BMP8A EXON Synonymous_P280P JHU_1.39991010 1 39991011 [A/C] NM_181809,NR_144354,NR_003929,NR_144355,NR_144356,NR_144357 BMP8A,PPIEL,PPIEL,PPIEL,PPIEL,PPIEL Silent,Silent,Silent,Silent,Silent,Silent exm48186 1 39991342 [A/G] NM_181809,NR_144354,NR_003929,NR_144355,NR_144356,NR_144357 BMP8A,PPIEL,PPIEL,PPIEL,PPIEL,PPIEL EXON Missense_A361T,Silent,Silent,Silent,Silent,Silent rs1180341 1 39992808 [T/C] NM_181809,NR_144354,NR_003929,NR_144355,NR_144356,NR_144357 BMP8A,PPIEL,PPIEL,PPIEL,PPIEL,PPIEL EXON Silent,Silent,Silent,Silent,Silent,Silent JHU_1.40000075 1 40000076 [A/C] NR_144354,NR_003929,NR_144355,NR_144356,NR_144357 PPIEL,PPIEL,PPIEL,PPIEL,PPIEL Silent,Silent,Silent,Silent,Silent rs143809409 1 40001919 [T/C] NR_144354,NR_003929,NR_144355,NR_144356,NR_144357 PPIEL,PPIEL,PPIEL,PPIEL,PPIEL Silent,Silent,Silent,Silent,Silent JHU_1.40005166 1 40005167 [A/T] NR_144354,NR_003929,NR_144355,NR_144356,NR_144357 PPIEL,PPIEL,PPIEL,PPIEL,PPIEL Silent,Silent,Silent,Silent,Silent rs138483589 1 40013718 [A/G] NR_144354,NR_003929,NR_144355,NR_144356,NR_144357 PPIEL,PPIEL,PPIEL,PPIEL,PPIEL EXON Silent,Silent,Silent,Silent,Silent 1:40014644-A-G 1 40014644 [A/G] NR_144354,NR_003929,NR_144355,NR_144356,NR_144357 PPIEL,PPIEL,PPIEL,PPIEL,PPIEL Silent,Silent,Silent,Silent,Silent rs3768319 1 40026043 [T/G] rs4660293 1 40028180 [A/G] NM_003819,NM_001135653,NM_001135654 PABPC4,PABPC4,PABPC4 Silent,Silent,Silent exm-rs4660293 1 40028180 [A/G] NM_003819,NM_001135653,NM_001135654 PABPC4,PABPC4,PABPC4 Silent,Silent,Silent exm48257 1 40034572 [T/C] NM_003819,NM_001135653,NM_001135654,NR_125979 PABPC4,PABPC4,PABPC4,LOC101929516 EXON Missense_I260V,Missense_I260V,Missense_I260V,Silent rs9438926 1 40035182 [A/G] NM_003819,NM_001135653,NM_001135654,NR_125979 PABPC4,PABPC4,PABPC4,LOC101929516 Silent,Silent,Silent,Silent rs3768321 1 40035928 [T/G] NM_003819,NM_001135653,NM_001135654,NR_125979 PABPC4,PABPC4,PABPC4,LOC101929516 Silent,Silent,Silent,Silent rs61743745 1 40036944 [A/G] NM_003819,NM_001135653,NM_001135654,NR_125979 PABPC4,PABPC4,PABPC4,LOC101929516 EXON Synonymous_I155I,Synonymous_I155I,Synonymous_I155I,Silent rs2242500 1 40037902 [A/G] NM_003819,NM_001135653,NM_001135654,NR_125979 PABPC4,PABPC4,PABPC4,LOC101929516 Silent,Silent,Silent,Silent 1:40041482-TG 1 40041482 [T/G] NM_003819,NM_001135653,NM_001135654 PABPC4,PABPC4,PABPC4 EXON Missense_T48P,Missense_T48P,Missense_T48P JHU_1.40042796 1 40042797 [A/G] exm2264826 1 40049184 [A/G] rs12037222 1 40064961 [A/G] JHU_1.40065333 1 40065334 [A/G] rs2310799 1 40066622 [A/G] rs3916164 1 40069939 [A/G] rs116061985 1 40083107 [A/G] rs41264497 1 40090422 [A/G] NM_014571 HEYL EXON Silent rs12049221 1 40090898 [A/C] NM_014571 HEYL EXON Silent 1:40092227-CT 1 40092227 [T/C] NM_014571 HEYL EXON Missense_M313I 1:40092286-CT 1 40092286 [T/C] NM_014571 HEYL EXON Missense_A294T 1:40092349-CA 1 40092349 [A/C] NM_014571 HEYL EXON Missense_A273S exm48300 1 40092381 [A/G] NM_014571 HEYL EXON Missense_P262L 1:40092469-GA 1 40092469 [A/G] NM_014571 HEYL EXON Missense_R233W 1:40092498-CT 1 40092498 [T/C] NM_014571 HEYL EXON Missense_R223H 1:40092519-GT 1 40092519 [T/G] NM_014571 HEYL EXON Missense_A216D exm48307 1 40092550 [A/C] NM_014571 HEYL EXON Missense_G206C exm48310 1 40092581 [G/C] NM_014571 HEYL EXON Missense_I195M 1:40092586-CT 1 40092586 [T/C] NM_014571 HEYL EXON Missense_A194T exm48311 1 40092603 [A/G] NM_014571 HEYL EXON Missense_A188V exm48313 1 40092631 [A/G] NM_014571 HEYL EXON Missense_F179L rs138365730 1 40092635 [A/C] NM_014571 HEYL EXON Missense_W177C exm48314 1 40092635 [A/C] NM_014571 HEYL EXON Missense_W177C exm2251616 1 40092671 [T/C] NM_014571 HEYL EXON Synonymous_T165T exm48317 1 40092671 [T/C] NM_014571 HEYL EXON Synonymous_T165T 1:40092672-GA 1 40092672 [A/G] NM_014571 HEYL EXON Missense_T165M 1:40092729-CT 1 40092729 [T/C] NM_014571 HEYL EXON Missense_R146Q 1:40092745-GA 1 40092745 [A/G] NM_014571 HEYL EXON Missense_R141C 1:40092771-AC 1 40092771 [A/C] NM_014571 HEYL EXON Missense_L132R rs140082325 1 40092784 [T/C] NM_014571 HEYL EXON Missense_V128I exm48328 1 40092784 [T/C] NM_014571 HEYL EXON Missense_V128I JHU_1.40095327 1 40095328 [C/G] NM_014571 HEYL Silent exm48333 1 40095907 [T/C] NM_014571 HEYL EXON Missense_G102D 1:40095908-CA 1 40095908 [A/C] NM_014571 HEYL EXON Missense_G102C exm2275322 1 40097233 [A/G] NM_014571 HEYL EXON Nonsense_R56X exm48341 1 40097239 [A/G] NM_014571 HEYL EXON Missense_R54W exm48342 1 40098328 [T/C] NM_014571 HEYL EXON Missense_H47R rs4660892 1 40104584 [A/G] NM_014571 HEYL Silent rs784622 1 40104814 [A/G] NM_014571 HEYL Silent 1:40105282-CA 1 40105282 [A/C] NM_014571 HEYL EXON Nonsense_E6X exm48348 1 40105285 [T/C] NM_014571 HEYL EXON Missense_K5E rs72663581 1 40106082 [T/C] rs3754353 1 40106514 [C/G] JHU_1.40106884 1 40106885 [A/G] rs12562823 1 40110750 [A/C] JHU_1.40110809 1 40110810 [A/T] rs3887860 1 40112371 [T/C] rs784619 1 40112610 [A/G] rs60241113 1 40112820 [A/G] rs1180277 1 40117210 [T/C] rs116763700 1 40119975 [T/C] JHU_1.40123060 1 40123061 [A/C] rs16826428 1 40124240 [A/G] exm48350 1 40124804 [A/C] NM_032526 NT5C1A EXON Missense_S366A 1:40124830-CT 1 40124830 [T/C] NM_032526 NT5C1A EXON Missense_R357Q 1:40124870-CA 1 40124870 [A/C] NM_032526 NT5C1A EXON Missense_A344S exm48359 1 40124935 [T/C] NM_032526 NT5C1A EXON Missense_R322H 1:40125053-GA 1 40125053 [A/G] NM_032526 NT5C1A EXON Missense_R283C 1:40125074-GA 1 40125074 [A/G] NM_032526 NT5C1A EXON Missense_R276C exm48365 1 40125077 [T/C] NM_032526 NT5C1A EXON Missense_I275V IlmnSeq_rs201045130 1 40125139 [A/G] NM_032526 NT5C1A EXON Missense_L254P rs12566856 1 40125718 [T/C] NM_032526 NT5C1A Silent rs370457585 1 40126852 [T/C] NM_032526 NT5C1A EXON Missense_A214T 1:40126870-CT 1 40126870 [T/C] NM_032526 NT5C1A EXON Missense_V208M rs115874855 1 40128052 [T/C] NM_032526 NT5C1A Silent rs370744264 1 40128535 [T/G] NM_032526 NT5C1A Silent rs374150125 1 40129002 [A/G] NM_032526 NT5C1A EXON Nonsense_R180X variant.2615 1 40129002 [A/G] NM_032526 NT5C1A EXON Nonsense_R180X variant.2616 1 40129057 [T/G] NM_032526 NT5C1A EXON Nonsense_C161X 1KG_1_40129103 1 40129103 [D/I] NM_032526 NT5C1A EXON exm48393 1 40131295 [A/G] NM_032526 NT5C1A EXON Missense_R111W exm48397 1 40131787 [T/C] NM_032526 NT5C1A EXON Missense_H86R 1:40131829-GA 1 40131829 [A/G] NM_032526 NT5C1A EXON Missense_T72M exm-rs873917 1 40132795 [T/G] NM_032526 NT5C1A Silent JHU_1.40135471 1 40135472 [T/C] NM_032526 NT5C1A Silent rs784597 1 40136070 [G/C] NM_032526 NT5C1A Silent rs1535031 1 40137251 [A/C] NM_032526 NT5C1A Silent rs1533479 1 40138123 [A/C] rs784600 1 40139553 [T/C] rs10888919 1 40140559 [A/T] rs784627 1 40142295 [C/G] rs6663003 1 40143327 [T/C] rs6703320 1 40145297 [T/C] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Silent,Silent,Silent rs74757017 1 40145680 [T/C] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Silent,Silent,Silent exm2251617 1 40148295 [A/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Synonymous_D163D,Synonymous_D91D,Synonymous_D163D exm48415 1 40148335 [T/C] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Missense_R150H,Missense_R78H,Missense_R150H rs784634 1 40149642 [T/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Synonymous_R115R,Silent,Synonymous_R115R exm48429 1 40149791 [T/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Missense_Q66K,Silent,Missense_Q66K rs9662128 1 40150156 [A/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Synonymous_S40S,Synonymous_S40S,Synonymous_S40S 1:40150222-CA 1 40150222 [A/C] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Missense_Q18H,Missense_Q18H,Missense_Q18H exm48439 1 40150222 [A/C] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 EXON Missense_Q18H,Missense_Q18H,Missense_Q18H rs785108 1 40152676 [T/C] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 Silent,Silent,Silent rs477913 1 40153141 [T/C] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 Silent,Silent,Silent JHU_1.40153591 1 40153592 [A/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 Silent,Silent,Silent rs11206624 1 40153944 [A/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 Silent,Silent,Silent rs564249 1 40155623 [A/G] NM_016257,NM_001282397,NM_001282396 HPCAL4,HPCAL4,HPCAL4 Silent,Silent,Silent JHU_1.40157486 1 40157487 [A/G] JHU_1.40164390 1 40164391 [A/G] rs145548202 1 40166136 [G/C] JHU_1.40166775 1 40166776 [T/C] JHU_1.40167246 1 40167247 [A/G] rs12120934 1 40168341 [A/G] JHU_1.40170142 1 40170143 [T/C] rs12120460 1 40170389 [T/C] rs17561720 1 40171226 [T/C] rs704777 1 40175071 [T/G] rs499976 1 40176412 [T/C] rs16826510 1 40183207 [T/G] rs61779765 1 40183242 [A/G] rs74423411 1 40183578 [A/G] rs481423 1 40183922 [T/C] JHU_1.40184721 1 40184722 [T/G] rs704782 1 40184733 [A/G] JHU_1.40186040 1 40186041 [A/C] rs66686675 1 40186176 [A/G] rs113202774 1 40187580 [T/G] rs704784 1 40188113 [T/C] rs12406805 1 40190102 [A/G] rs539853 1 40194903 [A/G] JHU_1.40199961 1 40199962 [A/C] JHU_1.40200060 1 40200061 [T/C] JHU_1.40200985 1 40200986 [T/C] 1:40204577-CT 1 40204577 [T/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_A2V,Silent,Silent,Missense_A2V,Missense_A2V,Missense_A2V rs76571594 1 40205023 [A/G] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE Silent,Silent,Silent,Silent,Silent,Silent newrs11809873 1 40205859 [T/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Synonymous_D18D,Silent,Silent,Synonymous_D18D,Synonymous_D18D,Synonymous_D18D exm48456 1 40209586 [A/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_E125A,Silent,Silent,Missense_E125A,Missense_E125A,Missense_E125A rs11590717 1 40209824 [T/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE Silent,Silent,Silent,Silent,Silent,Silent exm48457 1 40211072 [A/G] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_R137H,Silent,Silent,Silent,Missense_R137H,Missense_R137H exm48459 1 40211117 [T/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_P152L,Silent,Silent,Missense_P139L,Missense_P152L,Missense_P152L 1:40214648-CT 1 40214648 [T/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Synonymous_P194P,Silent,Silent,Synonymous_P181P,Synonymous_P194P,Synonymous_P194P chr1_40214692 1 40214692 [T/C] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_T209I,Silent,Silent,Missense_T196I,Missense_T209I,Missense_T209I exm48474 1 40218695 [A/G] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_E270K,Silent,Silent,Missense_E257K,Missense_E270K,Missense_E270K 1:40219022-GA 1 40219022 [A/G] NM_203456,NR_036544,NR_036543,NM_001319293,NM_001195007,NM_006112 PPIE,PPIE,PPIE,PPIE,PPIE,PPIE EXON Silent,Silent,Silent,Silent,Silent,Missense_V301M rs7553968 1 40222660 [C/G] NM_203456,NM_001319293,NM_001195007 PPIE,PPIE,PPIE Silent,Silent,Silent rs3820618 1 40223128 [T/C] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B EXON Silent,Silent,Silent,Silent rs115871508 1 40223773 [A/C] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B EXON Silent,Silent,Silent,Silent rs148910981 1 40225969 [A/G] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B EXON Silent,Silent,Silent,Silent exm2268993 1 40226134 [T/C] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B EXON Silent,Silent,Silent,Missense_R389H exm48497 1 40226206 [A/G] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B EXON Silent,Silent,Silent,Missense_A365V rs570027 1 40227119 [T/C] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B Silent,Silent,Silent,Silent exm48510 1 40228799 [T/C] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B EXON Silent,Silent,Silent,Missense_M342V exm1802536 1 40228846 [A/G] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B EXON Silent,Silent,Silent,Missense_S326L JHU_1.40229002 1 40229003 [A/G] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B Silent,Silent,Silent,Silent JHU_1.40229318 1 40229319 [A/G] NM_203456,NM_001319293,NM_001195007,NM_001720 PPIE,PPIE,PPIE,BMP8B Silent,Silent,Silent,Silent exm48554 1 40235561 [A/G] NM_001720,NM_022120 BMP8B,OXCT2 EXON Silent,Missense_P456L exm48557 1 40235614 [T/C] NM_001720,NM_022120 BMP8B,OXCT2 EXON Silent,Missense_M438I indel.2623 1 40236089 [I/D] NM_001720,NM_022120 BMP8B,OXCT2 EXON rs914962 1 40242315 [T/C] NM_001720 BMP8B Silent rs2300743 1 40242345 [A/C] NM_001720 BMP8B Silent JHU_1.40248930 1 40248931 [A/G] NM_001720 BMP8B Silent JHU_1.40251290 1 40251291 [T/C] NM_001720 BMP8B Silent JHU_1.40251647 1 40251648 [A/G] NM_001720 BMP8B Silent rs2268864 1 40251653 [A/G] NM_001720 BMP8B Silent JHU_1.40252569 1 40252570 [T/C] NM_001720 BMP8B Silent rs230280 1 40255872 [T/G] JHU_1.40256810 1 40256811 [A/G] JHU_1.40257322 1 40257323 [T/C] rs78310082 1 40257566 [T/C] rs186471852 1 40257774 [T/C] rs230284 1 40258993 [A/G] rs61779799 1 40260585 [A/G] rs230291 1 40261687 [T/G] rs141994259 1 40261743 [A/G] JHU_1.40263265 1 40263266 [T/C] 1:40274789-A-G 1 40274789 [A/G] rs7531010 1 40275071 [A/G] rs2676697 1 40275549 [T/C] JHU_1.40280470 1 40280471 [T/C] rs149762638 1 40283757 [A/G] rs75645022 1 40285001 [A/G] rs11578451 1 40285773 [T/C] rs75603876 1 40286362 [T/G] rs1999574 1 40288051 [A/G] rs6600298 1 40288417 [A/G] rs1999573 1 40289812 [A/C] rs79220583 1 40295452 [T/C] rs28576184 1 40298191 [A/G] rs77462512 1 40298280 [T/C] rs12728717 1 40299948 [T/C] 1:40301272-C-T 1 40301272 [T/C] rs6693041 1 40302463 [A/C] rs230276 1 40303501 [C/G] rs7315 1 40306898 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm48614 1 40307584 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_A412A,Silent,Silent,Synonymous_A330A,Synonymous_A386A 1:40307585-GA 1 40307585 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A412V,Silent,Silent,Missense_A330V,Missense_A386V exm1802573 1 40312903 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R332H,Silent,Silent,Missense_R250H,Silent rs79374109 1 40312903 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R332H,Silent,Silent,Missense_R250H,Silent exm48623 1 40312919 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R327X,Silent,Silent,Nonsense_R245X,Silent rs75996803 1 40313018 [G/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:40313315-CA 1 40313315 [A/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G278V,Silent,Silent,Missense_G196V,Missense_G278V exm48633 1 40313689 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R262C,Silent,Silent,Missense_R180C,Missense_R262C rs140406438 1 40313758 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R239C,Silent,Silent,Missense_R157C,Missense_R239C 1:40315790-CT 1 40315790 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.2627 1 40315791 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V235I,Silent,Silent,Missense_D155N,Missense_V235I exm48642 1 40315880 [A/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R205L,Silent,Silent,Missense_R125L,Missense_R205L exm48643 1 40315888 [T/A] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_F202L,Silent,Silent,Missense_F122L,Missense_F202L JHU_1.40316154 1 40316155 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:40318411-CTT-C 1 40318411 [I/D] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON 1:40318497-TC 1 40318497 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_K156E,Silent,Silent,Missense_K76E,Missense_K156E variant.2629 1 40319741 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:40319835-A-G 1 40319835 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:40322975-CT 1 40322975 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D97N,Silent,Silent,Silent,Missense_D97N exm48649 1 40323015 [G/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_I83M,Silent,Silent,Silent,Missense_I83M exm48650 1 40323028 [C/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R79P,Silent,Silent,Silent,Missense_R79P rs17570439 1 40324210 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10489534 1 40325764 [T/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.40342203 1 40342204 [A/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:40349015-TC 1 40349015 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E50G,Silent,Silent,Missense_E50G,Missense_E50G exm48659 1 40349111 [A/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G18V,Silent,Silent,Missense_G18V,Missense_G18V seq-rs184469579 1 40349142 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R8X,Silent,Silent,Nonsense_R8X,Nonsense_R8X exm48661 1 40349142 [A/G] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R8X,Silent,Silent,Nonsense_R8X,Nonsense_R8X exm48662 1 40349148 [T/C] NR_132413,NR_132401,NR_132409,NR_132407,NR_132414,NR_132403,NR_132405,NR_132406,NR_132404,NR_132402,NR_132408,NR_132415,NM_017646,NR_132410,NR_132412,NM_001312692,NM_001312691 TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1,TRIT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A6T,Silent,Silent,Missense_A6T,Missense_A6T JHU_1.40352584 1 40352585 [T/C] rs11207068 1 40353955 [A/G] exm48669 1 40363115 [T/C] NM_001033081,NM_001033082 MYCL,MYCL EXON Missense_T342A,Missense_T372A 1:40363360-AG 1 40363360 [A/G] NM_001033081,NM_001033082 MYCL,MYCL EXON Missense_V260A,Missense_V290A exm48683 1 40363445 [A/C] NM_001033081,NM_001033082 MYCL,MYCL EXON Missense_G232C,Missense_G262C exm48692 1 40363600 [T/G] NM_001033081,NM_001033082 MYCL,MYCL EXON Missense_S180Y,Missense_S210Y rs3134613 1 40364803 [A/C] NM_001033081,NM_001033082 MYCL,MYCL Silent,Silent rs3117087 1 40364988 [T/C] NM_001033081,NM_001033082 MYCL,MYCL Silent,Silent 1:40366492-CAA-C 1 40366492 [I/D] NM_001033081,NM_001033082,NM_005376 MYCL,MYCL,MYCL EXON exm48711 1 40366962 [A/G] NM_001033081,NM_001033082,NM_005376 MYCL,MYCL,MYCL EXON Missense_P49S,Missense_P79S,Missense_P79S rs59384651 1 40368785 [A/C] rs7548524 1 40368905 [T/C] rs6657848 1 40373232 [A/G] JHU_1.40384601 1 40384602 [T/C] rs12127002 1 40384968 [A/G] JHU_1.40385364 1 40385365 [T/G] JHU_1.40387109 1 40387110 [T/G] rs3131644 1 40389420 [T/C] rs1105736 1 40390532 [T/C] rs12133325 1 40391153 [A/G] JHU_1.40391230 1 40391231 [A/G] rs3103780 1 40395169 [A/G] JHU_1.40398950 1 40398951 [A/C] rs68087082 1 40401710 [A/C] rs10889080 1 40402265 [G/C] rs11207167 1 40403414 [T/G] JHU_1.40404943 1 40404944 [A/G] rs77127523 1 40408904 [A/C] rs3131706 1 40413098 [T/C] JHU_1.40418072 1 40418073 [T/C] JHU_1.40418165 1 40418166 [T/C] rs12072037 1 40420206 [A/C] 1:40420992-GT 1 40420992 [T/G] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Silent,Missense_G10C,Silent,Missense_G10C,Missense_G10C,Silent,Missense_G10C,Missense_G10C 1:40421041-GT 1 40421041 [T/G] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Silent,Missense_R26L,Silent,Missense_R26L,Missense_R26L,Silent,Missense_R26L,Missense_R26L rs16826710 1 40422167 [A/G] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs181094032 1 40422828 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Silent,Missense_P53S,Silent,Silent,Missense_P55S,Silent,Missense_P55S,Missense_P55S 1:40422828-CT 1 40422828 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Silent,Missense_P53S,Silent,Silent,Missense_P55S,Silent,Missense_P55S,Missense_P55S variant.2633 1 40424333 [A/G] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent Variant12368 1 40424351 [D/I] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON rs78210404 1 40425935 [T/A] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.40427650 1 40427651 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12075704 1 40427928 [C/G] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:40430908-GA 1 40430908 [A/G] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Silent,Missense_V125I,Silent,Missense_V90I,Missense_V127I,Missense_V12I,Missense_V127I,Missense_V140I 1:40431542-AAGTGCTGGGCAC-A 1 40431542 [I/D] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON rs199920612 1 40431685 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_T82M,Missense_T236M,Silent,Missense_T201M,Missense_T238M,Missense_T123M,Missense_T238M,Missense_T251M 1:40431685-CT 1 40431685 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_T82M,Missense_T236M,Silent,Missense_T201M,Missense_T238M,Missense_T123M,Missense_T238M,Missense_T251M 1:40432489-AG 1 40432489 [A/G] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_Y115C,Missense_Y269C,Silent,Missense_Y232C,Missense_Y271C,Missense_Y156C,Missense_Y271C,Missense_Y284C 1:40432524-CT 1 40432524 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_R127W,Missense_R281W,Silent,Missense_R244W,Missense_R283W,Missense_R168W,Missense_R283W,Missense_R296W exm48750 1 40433345 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_R197W,Missense_R351W,Silent,Missense_R314W,Silent,Missense_R238W,Missense_R353W,Missense_R366W exm48753 1 40433537 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_A230V,Missense_A384V,Silent,Missense_A347V,Missense_A358V,Missense_A271V,Missense_A386V,Missense_A399V exm48754 1 40433552 [G/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_A235G,Missense_A389G,Silent,Missense_A352G,Missense_A363G,Missense_A276G,Missense_A391G,Missense_A404G rs3103778 1 40433771 [A/G] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.40434206 1 40434207 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm48764 1 40434281 [A/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_R309S,Missense_R463S,Silent,Missense_R426S,Missense_R437S,Missense_R350S,Missense_R465S,Missense_R478S exm48767 1 40434386 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_R344W,Missense_R498W,Silent,Missense_R461W,Missense_R472W,Missense_R385W,Missense_R500W,Missense_R513W rs149050977 1 40434386 [T/C] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A EXON Missense_R344W,Missense_R498W,Silent,Missense_R461W,Missense_R472W,Missense_R385W,Missense_R500W,Missense_R513W JHU_1.40435156 1 40435157 [A/G] NM_001287808,NM_001349821,NR_109896,NM_001287809,NM_001349822,NM_001349823,NM_032793,NM_001136493 MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A,MFSD2A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2131311 1 40435999 [A/G] rs11207227 1 40437923 [T/C] rs6669088 1 40438329 [T/C] rs72666986 1 40439295 [T/G] JHU_1.40443055 1 40443056 [A/C] JHU_1.40443205 1 40443206 [T/C] rs61781306 1 40446819 [A/G] rs76243693 1 40451071 [T/C] rs142405519 1 40452599 [A/C] JHU_1.40453502 1 40453503 [T/G] rs75583458 1 40453947 [A/G] 1:40453994-C-A 1 40453994 [A/C] JHU_1.40455455 1 40455456 [T/G] rs4660371 1 40458920 [T/C] rs75386633 1 40461990 [C/G] rs4233484 1 40462662 [T/C] JHU_1.40463600 1 40463601 [A/G] JHU_1.40467444 1 40467445 [A/G] JHU_1.40467498 1 40467499 [T/C] JHU_1.40475568 1 40475569 [T/C] JHU_1.40480841 1 40480842 [A/G] JHU_1.40483387 1 40483388 [T/C] rs28669168 1 40484207 [A/G] JHU_1.40485619 1 40485620 [A/G] rs143658862 1 40488332 [T/C] JHU_1.40488997 1 40488998 [T/G] rs111500127 1 40490239 [T/C] rs150702147 1 40491109 [G/C] JHU_1.40492308 1 40492309 [T/A] rs11207370 1 40499302 [A/G] rs11207373 1 40499630 [T/C] JHU_1.40503886 1 40503887 [T/C] rs3806207 1 40504550 [T/G] rs370634953 1 40508066 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3131683 1 40513710 [T/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.40515022 1 40515023 [A/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:40515277-G-A 1 40515277 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.40515447 1 40515448 [T/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.40524510 1 40524511 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.2638 1 40525007 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm48778 1 40525097 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V,Missense_M27V 1:40525802-TC 1 40525802 [T/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_L59S,Missense_L59S,Missense_L59S,Missense_L58S,Missense_L58S,Missense_L59S,Missense_L59S,Missense_L58S,Missense_L59S,Missense_L58S,Missense_L59S,Missense_L58S,Missense_L59S,Missense_L59S 1:40525843-GT 1 40525843 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72668723 1 40526396 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:40529911-GA 1 40529911 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_D103N,Missense_D103N,Missense_D103N,Missense_D102N,Missense_D102N,Missense_D103N,Missense_D103N,Missense_D102N,Missense_D103N,Missense_D102N,Missense_D103N,Missense_D102N,Missense_D103N,Missense_D103N 1:40529931-AG 1 40529931 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Synonymous_S109S,Synonymous_S109S,Synonymous_S109S,Synonymous_S108S,Synonymous_S108S,Synonymous_S109S,Synonymous_S109S,Synonymous_S108S,Synonymous_S109S,Synonymous_S108S,Synonymous_S109S,Synonymous_S108S,Synonymous_S109S,Synonymous_S109S exm48793 1 40529947 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_V115L,Missense_V115L,Missense_V115L,Missense_V114L,Missense_V114L,Missense_V115L,Missense_V115L,Missense_V114L,Missense_V115L,Missense_V114L,Missense_V115L,Missense_V114L,Missense_V115L,Missense_V115L exm48796 1 40529999 [T/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_S132L,Missense_S132L,Missense_S132L,Missense_S131L,Missense_S131L,Missense_S132L,Missense_S132L,Missense_S131L,Missense_S132L,Missense_S131L,Missense_S132L,Missense_S131L,Missense_S132L,Missense_S132L JHU_1.40531326 1 40531327 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17360596 1 40531664 [G/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm48811 1 40533266 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_C229G,Missense_C229G,Missense_C229G,Missense_C228G,Missense_C228G,Missense_C229G,Missense_C229G,Missense_C228G,Missense_C229G,Missense_C228G,Missense_C229G,Missense_C228G,Missense_C229G,Missense_C229G 1:40533287-TG 1 40533287 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_C236G,Missense_C236G,Missense_C236G,Missense_C235G,Missense_C235G,Missense_C236G,Missense_C236G,Missense_C235G,Missense_C236G,Missense_C235G,Missense_C236G,Missense_C235G,Missense_C236G,Missense_C236G 1:40533315-TG 1 40533315 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_I245S,Missense_I245S,Missense_I245S,Missense_I244S,Missense_I244S,Missense_I245S,Missense_I245S,Missense_I244S,Missense_I245S,Missense_I244S,Missense_I245S,Missense_I244S,Missense_I245S,Missense_I245S exm48815 1 40533320 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_C247G,Missense_C247G,Missense_C247G,Missense_C246G,Missense_C246G,Missense_C247G,Missense_C247G,Missense_C246G,Missense_C247G,Missense_C246G,Missense_C247G,Missense_C246G,Missense_C247G,Missense_C247G exm48816 1 40533326 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_Y249D,Missense_Y249D,Missense_Y249D,Missense_Y248D,Missense_Y248D,Missense_Y249D,Missense_Y249D,Missense_Y248D,Missense_Y249D,Missense_Y248D,Missense_Y249D,Missense_Y248D,Missense_Y249D,Missense_Y249D JHU_1.40533325 1 40533326 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_Y249D,Missense_Y249D,Missense_Y249D,Missense_Y248D,Missense_Y248D,Missense_Y249D,Missense_Y249D,Missense_Y248D,Missense_Y249D,Missense_Y248D,Missense_Y249D,Missense_Y248D,Missense_Y249D,Missense_Y249D 1:40533347-TG 1 40533347 [T/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_S256A,Missense_S256A,Missense_S256A,Missense_S255A,Missense_S255A,Missense_S256A,Missense_S256A,Missense_S255A,Missense_S256A,Missense_S255A,Missense_S256A,Missense_S255A,Missense_S256A,Missense_S256A exm48821 1 40533357 [T/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_A259V,Missense_A259V,Missense_A259V,Missense_A258V,Missense_A258V,Missense_A259V,Missense_A259V,Missense_A258V,Missense_A259V,Missense_A258V,Missense_A259V,Missense_A258V,Missense_A259V,Missense_A259V exm48824 1 40535362 [T/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_A270V,Missense_A270V,Missense_A270V,Missense_A269V,Missense_A269V,Missense_A270V,Missense_A270V,Missense_A269V,Missense_A270V,Missense_A269V,Missense_A270V,Missense_A269V,Missense_A270V,Missense_A270V 1:40535481-TC 1 40535481 [T/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_S310P,Missense_S310P,Missense_S310P,Missense_S309P,Missense_S309P,Missense_S310P,Missense_S310P,Missense_S309P,Missense_S310P,Missense_S309P,Missense_S310P,Missense_S309P,Missense_S310P,Missense_S310P chr1_40535911 1 40535911 [A/C] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_N358K,Missense_N358K,Missense_N358K,Missense_N357K,Missense_N357K,Missense_N358K,Missense_N358K,Missense_N357K,Missense_N358K,Missense_N357K,Missense_N358K,Missense_N357K,Missense_N358K,Missense_N358K 1:40535936-AG 1 40535936 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Missense_I367V,Missense_I367V,Missense_I367V,Missense_I366V,Missense_I366V,Missense_I367V,Missense_I367V,Missense_I366V,Missense_I367V,Missense_I366V,Missense_I367V,Missense_I366V,Missense_I367V,Missense_I367V exm48842 1 40535953 [A/T] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Synonymous_V372V,Synonymous_V372V,Synonymous_V372V,Synonymous_V371V,Synonymous_V371V,Synonymous_V372V,Synonymous_V372V,Synonymous_V371V,Synonymous_V372V,Synonymous_V371V,Synonymous_V372V,Synonymous_V371V,Synonymous_V372V,Synonymous_V372V rs141408604 1 40536914 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7300 1 40538101 [A/G] NM_001350480,NM_001350479,NM_001350475,NM_001330502,NM_001350482,NM_001350476,NM_006367,NM_001350484,NM_001350477,NM_001350483,NM_001105530,NM_001350485,NM_001350478,NM_001350481 CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1,CAP1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1126973 1 40539076 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Silent,Silent,Silent exm48852 1 40539750 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_I302V,Missense_I278V,Missense_I199V 1:40539798-CT 1 40539798 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_E286K,Missense_E262K,Missense_E183K rs72937434 1 40539817 [G/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_Q279H,Missense_Q255H,Missense_Q176H exm48855 1 40539817 [G/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_Q279H,Missense_Q255H,Missense_Q176H seq-rs794727955 1 40539844 [D/I] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON exm48856 1 40539849 [T/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_L269M,Missense_L245M,Missense_L166M rs386833664 1 40542587 [A/T] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent rs6681804 1 40543019 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent Variant48271 1 40544236 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_S241L,Missense_S241L,Missense_S138L rs386833661 1 40544293 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_L222P,Missense_L222P,Missense_L119P variant.2641 1 40544293 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_L222P,Missense_L222P,Missense_L119P 1:40544302-T-A 1 40544302 [A/T] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_L219Q,Missense_L219Q,Missense_L116Q Variant48273 1 40546138 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_W186X,Nonsense_W186X,Nonsense_W83X Variant48274 1 40546146 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_E184K,Missense_E184K,Missense_E81K rs386833655 1 40546146 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_E184K,Missense_E184K,Missense_E81K exm48877 1 40546155 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_V181M,Missense_V181M,Missense_V78M newrs148412181 1 40546155 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_V181M,Missense_V181M,Missense_V78M ilmnseq_rs148412181 1 40546155 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_V181M,Missense_V181M,Missense_V78M rs3131660 1 40547950 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent JHU_1.40552095 1 40552096 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent rs12118846 1 40553444 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent Variant48277 1 40555080 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent variant.2644 1 40555082 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_R179H,Missense_R179H,Missense_R76H 1:40555083-GA 1 40555083 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_R179C,Missense_R179C,Missense_R76C rs386833650 1 40555089 [G/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_Q177E,Missense_Q177E,Missense_Q74E variant.2646 1 40555128 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_R164X,Nonsense_R164X,Nonsense_R61X ilmnseq_rs137852700.1_F2BT_ilmndup1 1 40555167 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_R151X,Nonsense_R151X,Nonsense_R48X rs137852700 1 40555167 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_R151X,Nonsense_R151X,Nonsense_R48X ilmnseq_rs137852700.1_F2BT_ilmndup3 1 40555167 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_R151X,Nonsense_R151X,Nonsense_R48X exm48881 1 40555167 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_R151X,Nonsense_R151X,Nonsense_R48X ilmnseq_rs137852700.1_F2BT_ilmndup2 1 40555167 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_R151X,Nonsense_R151X,Nonsense_R48X ilmnseq_rs137852700.2_F2BT_ilmndup2 1 40555167 [G/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_R151G,Missense_R151G,Missense_R48G ilmnseq_rs137852700.2_F2BT_ilmndup3 1 40555167 [G/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_R151G,Missense_R151G,Missense_R48G newrs137852700 1 40555167 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_R151X,Nonsense_R151X,Nonsense_R48X ilmnseq_rs137852700.2_F2BT 1 40555167 [G/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_R151G,Missense_R151G,Missense_R48G ilmnseq_rs137852700.1_F2BT 1 40555167 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_R151X,Nonsense_R151X,Nonsense_R48X ilmnseq_rs137852700.2_F2BT_ilmndup1 1 40555167 [G/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_R151G,Missense_R151G,Missense_R48G rs3131651 1 40555321 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent rs79094201 1 40556577 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent rs149175148 1 40556768 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent seq-rs796052925 1 40557010 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_Q142X,Nonsense_Q142X,Silent 1:40557012-CA 1 40557012 [A/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_G141V,Missense_G141V,Silent variant.2649 1 40557021 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_S138L,Missense_S138L,Silent rs386833646 1 40557021 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_S138L,Missense_S138L,Silent exm48883 1 40557033 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_I134T,Missense_I134T,Silent Variant15889 1 40557036 [I/D] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON exm48886 1 40557070 [T/A] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_R122W,Missense_R122W,Silent rs137852695 1 40557070 [T/A] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_R122W,Missense_R122W,Silent ilmnseq_rs137852695_ilmndup1 1 40557070 [T/A] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_R122W,Missense_R122W,Silent exm48887 1 40557071 [A/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Synonymous_L121L,Synonymous_L121L,Silent newrs117284255 1 40557075 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent Variant48285 1 40557726 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_G118D,Missense_G118D,Silent exm48890 1 40557750 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_N110S,Missense_N110S,Silent rs386833642 1 40557754 [A/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_Y109D,Missense_Y109D,Silent Variant48286 1 40557754 [A/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_Y109D,Missense_Y109D,Silent 1:40557757-G-C 1 40557757 [G/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_G108R,Missense_G108R,Silent Variant48287 1 40557792 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_C96Y,Missense_C96Y,Silent rs386833640 1 40557792 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_C96Y,Missense_C96Y,Silent variant.2654 1 40557807 [T/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_Q91P,Missense_Q91P,Silent rs386833639 1 40557807 [T/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_Q91P,Missense_Q91P,Silent rs137852697 1 40557843 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_D79G,Missense_D79G,Silent variant.2655 1 40557846 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent seq-rs796052923 1 40558069 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent ilmnseq_rs137852696 1 40558081 [T/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_T75P,Missense_T75P,Silent rs137852696 1 40558081 [T/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_T75P,Missense_T75P,Silent rs386833635 1 40558129 [D/I] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Variant48291 1 40558134 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_M57T,Missense_M57T,Silent rs4660390 1 40560399 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent JHU_1.40560457 1 40560458 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent rs11207493 1 40560831 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent JHU_1.40561497 1 40561498 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent rs60099154 1 40561811 [C/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent JHU_1.40561810 1 40561811 [C/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent JHU_1.40561813 1 40561814 [A/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 Silent,Silent,Silent 1:40562882-T-A 1 40562882 [T/A] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_L10X,Nonsense_L10X,Nonsense_L10X rs137852699 1 40562882 [T/A] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Nonsense_L10X,Nonsense_L10X,Nonsense_L10X rs386833645 1 40562908 [T/C] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_M1I,Missense_M1I,Missense_M1I rs796052927 1 40562909 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_M1T,Missense_M1T,Missense_M1T seq-rs796052927 1 40562909 [A/G] NM_000310,NM_001363695,NM_001142604 PPT1,PPT1,PPT1 EXON Missense_M1T,Missense_M1T,Missense_M1T rs4660159 1 40563700 [T/C] JHU_1.40564526 1 40564527 [C/G] rs6600317 1 40564994 [T/G] rs144198095 1 40567480 [A/T] JHU_1.40570267 1 40570268 [T/G] JHU_1.40572062 1 40572063 [T/C] rs12074195 1 40573134 [A/G] rs201622050 1 40574891 [T/C] JHU_1.40574890 1 40574891 [T/C] 1:40575040-G-A 1 40575040 [A/G] JHU_1.40576164 1 40576165 [T/C] JHU_1.40582922 1 40582923 [A/G] JHU_1.40585295 1 40585296 [A/G] rs34278452 1 40588662 [T/C] JHU_1.40593096 1 40593097 [T/C] JHU_1.40593882 1 40593883 [A/C] rs7539285 1 40594472 [C/G] rs4492609 1 40598775 [T/C] rs78259598 1 40599856 [T/G] rs141144908 1 40601501 [T/G] rs6600318 1 40601636 [T/C] 1:40606979-A-C 1 40606979 [A/C] rs147626967 1 40609606 [A/G] JHU_1.40610257 1 40610258 [A/C] rs118174939 1 40614335 [C/G] rs148480526 1 40614438 [C/G] rs117706148 1 40623027 [A/G] rs6656984 1 40623320 [G/C] 1:40627076-CT 1 40627076 [T/C] NM_012421 RLF EXON Missense_A2V 1:40627081-GA 1 40627081 [A/G] NM_012421 RLF EXON Missense_G4R 1:40627115-GA 1 40627115 [A/G] NM_012421 RLF EXON Missense_G15E exm48910 1 40627183 [T/C] NM_012421 RLF EXON Missense_R38C 1:40627219-CT 1 40627219 [T/C] NM_012421 RLF EXON Missense_R50W 1:40627270-GA 1 40627270 [A/G] NM_012421 RLF EXON Missense_E67K exm48915 1 40627273 [A/G] NM_012421 RLF EXON Missense_V68I rs181377547 1 40628514 [T/C] NM_012421 RLF Silent rs7529068 1 40628822 [A/G] NM_012421 RLF Silent rs12028797 1 40632810 [T/C] NM_012421 RLF Silent rs4600036 1 40636387 [T/G] NM_012421 RLF Silent JHU_1.40636674 1 40636675 [A/G] NM_012421 RLF Silent rs59682960 1 40637191 [T/G] NM_012421 RLF Silent JHU_1.40637190 1 40637191 [T/G] NM_012421 RLF Silent rs182779609 1 40637435 [T/C] NM_012421 RLF Silent JHU_1.40638177 1 40638178 [T/C] NM_012421 RLF Silent rs149800820 1 40639535 [A/G] NM_012421 RLF Silent rs147359410 1 40641351 [T/G] NM_012421 RLF Silent JHU_1.40641474 1 40641475 [A/G] NM_012421 RLF Silent JHU_1.40644298 1 40644299 [T/G] NM_012421 RLF Silent JHU_1.40646270 1 40646271 [A/G] NM_012421 RLF Silent rs11207626 1 40646447 [A/G] NM_012421 RLF Silent JHU_1.40653700 1 40653701 [G/C] NM_012421 RLF Silent JHU_1.40666522 1 40666523 [T/C] NM_012421 RLF Silent JHU_1.40666654 1 40666655 [A/C] NM_012421 RLF Silent JHU_1.40666864 1 40666865 [G/C] NM_012421 RLF Silent 1:40668239-AG 1 40668239 [A/G] NM_012421 RLF EXON Missense_I255V exm48931 1 40668255 [G/C] NM_012421 RLF EXON Missense_S260C rs11589250 1 40668772 [A/G] NM_012421 RLF Silent JHU_1.40669707 1 40669708 [T/C] NM_012421 RLF Silent JHU_1.40671157 1 40671158 [T/C] NM_012421 RLF Silent 1:40697173-ATCT-A 1 40697173 [D/I] NM_012421 RLF 1:40701539-GA 1 40701539 [A/G] NM_012421 RLF EXON Missense_E389K exm1802711 1 40701699 [A/C] NM_012421 RLF EXON Missense_E442A exm1802712 1 40702253 [A/G] NM_012421 RLF EXON Missense_G627S exm48957 1 40702305 [A/G] NM_012421 RLF EXON Missense_N644S exm48959 1 40702377 [A/G] NM_012421 RLF EXON Missense_R668K exm48964 1 40702496 [T/G] NM_012421 RLF EXON Missense_D708Y exm48971 1 40702974 [A/C] NM_012421 RLF EXON Missense_P867H exm48972 1 40702991 [A/G] NM_012421 RLF EXON Missense_A873T exm48976 1 40703169 [T/C] NM_012421 RLF EXON Missense_V932A exm48979 1 40703244 [A/G] NM_012421 RLF EXON Missense_G957D 1:40703318-CT 1 40703318 [T/C] NM_012421 RLF EXON Missense_H982Y exm48980 1 40703331 [A/C] NM_012421 RLF EXON Missense_K986T exm48983 1 40703355 [T/C] NM_012421 RLF EXON Missense_F994S 1:40703423-GA 1 40703423 [A/G] NM_012421 RLF EXON Missense_D1017N exm48989 1 40703451 [T/G] NM_012421 RLF EXON Missense_G1026V 1:40703538-GA 1 40703538 [A/G] NM_012421 RLF EXON Missense_C1055Y 1:40703742-CT 1 40703742 [T/C] NM_012421 RLF EXON Missense_A1123V exm49001 1 40704231 [A/G] NM_012421 RLF EXON Missense_E1286G 1:40704488-CA 1 40704488 [A/C] NM_012421 RLF EXON Missense_R1372S exm49009 1 40704525 [T/G] NM_012421 RLF EXON Missense_S1384I 1:40704879-AG 1 40704879 [A/G] NM_012421 RLF EXON Missense_H1502R 1:40704896-CAGG-C 1 40704896 [D/I] NM_012421 RLF EXON 1:40705202-AG 1 40705202 [A/G] NM_012421 RLF EXON Missense_I1610V exm49029 1 40705203 [T/C] NM_012421 RLF EXON Missense_I1610T exm49031 1 40705238 [T/C] NM_012421 RLF EXON Missense_R1622C exm49034 1 40705260 [T/C] NM_012421 RLF EXON Missense_P1629L 1:40705332-GA 1 40705332 [A/G] NM_012421 RLF EXON Missense_G1653E exm2251619 1 40705399 [T/C] NM_012421 RLF EXON Synonymous_N1675N exm1802726 1 40705401 [T/A] NM_012421 RLF EXON Missense_H1676L exm49039 1 40705427 [C/G] NM_012421 RLF EXON Missense_Q1685E exm49040 1 40705431 [A/G] NM_012421 RLF EXON Missense_C1686Y 1:40705472-TC 1 40705472 [T/C] NM_012421 RLF EXON Missense_S1700P exm49047 1 40705578 [A/C] NM_012421 RLF EXON Missense_Q1735P 1:40705641-CA 1 40705641 [A/C] NM_012421 RLF EXON Missense_P1756H exm49053 1 40705726 [A/T] NM_012421 RLF EXON Missense_E1784D exm1802729 1 40705883 [A/C] NM_012421 RLF EXON Missense_H1837N exm49056 1 40705896 [C/G] NM_012421 RLF EXON Missense_T1841S exm49058 1 40705931 [A/G] NM_012421 RLF EXON Missense_T1853A rs10489429 1 40710071 [A/G] rs367907899 1 40711906 [A/G] indel.2657 1 40713778 [I/D] NM_001008740 TMCO2 EXON 1:40713878-GA 1 40713878 [A/G] NM_001008740 TMCO2 EXON Nonsense_W71X exm49072 1 40716970 [A/G] NM_001008740 TMCO2 EXON Missense_V85I exm49077 1 40717052 [A/G] NM_001008740 TMCO2 EXON Missense_R112Q 1:40717165-CA 1 40717165 [A/C] NM_001008740 TMCO2 EXON Missense_Q150K var_1_40717196 1 40717197 [I/D] NM_001008740 TMCO2 EXON rs60640112 1 40720588 [T/C] JHU_1.40720926 1 40720927 [T/C] rs926830 1 40722795 [A/G] JHU_1.40723181 1 40723182 [A/G] 1:40723951-TC 1 40723951 [T/C] NM_005857 ZMPSTE24 EXON Missense_M3T Variant2109 1 40723996 [I/D] NM_005857 ZMPSTE24 EXON 1:40724064-C-T 1 40724064 [T/C] NM_005857 ZMPSTE24 EXON Nonsense_Q41X 1:40726592-ACT-A 1 40726592 [D/I] NM_005857 ZMPSTE24 EXON 1:40731271-T-C 1 40731271 [T/C] NM_005857 ZMPSTE24 Silent 1:40733468-T-C 1 40733468 [T/C] NM_005857 ZMPSTE24 EXON Missense_L94P 1:40733512-TG 1 40733512 [T/G] NM_005857 ZMPSTE24 EXON Missense_C109G 1:40734179-TC 1 40734179 [T/C] NM_005857 ZMPSTE24 EXON Missense_I149T 1:40735750-GA 1 40735750 [A/G] NM_005857 ZMPSTE24 EXON Missense_G193D 1:40737589-T-C 1 40737589 [T/C] NM_005857 ZMPSTE24 EXON Synonymous_D217D 1KG_1_40737593 1 40737593 [D/I] NM_005857 ZMPSTE24 EXON 1:40737612-AG 1 40737612 [A/G] NM_005857 ZMPSTE24 EXON Missense_K225R variant.2665 1 40737647 [T/G] NM_005857 ZMPSTE24 EXON Nonsense_E237X 1:40737653-G-T 1 40737653 [T/G] NM_005857 ZMPSTE24 EXON Nonsense_E239X rs6600323 1 40743727 [A/G] NM_005857 ZMPSTE24 Silent JHU_1.40743906 1 40743907 [A/G] NM_005857 ZMPSTE24 Silent 1:40747039-A-G 1 40747039 [A/G] NM_005857 ZMPSTE24 EXON Missense_N265S 1:40747190-CTAAAGT-C 1 40747190 [I/D] NM_005857 ZMPSTE24 EXON rs10489430 1 40748755 [T/C] NM_005857 ZMPSTE24 Silent 1:40751660-T-C 1 40751660 [T/C] NM_005857 ZMPSTE24 EXON Missense_W340R Variant48296 1 40751662 [A/G] NM_005857 ZMPSTE24 EXON Nonsense_W340X 1:40751670-GA 1 40751670 [A/G] NM_005857 ZMPSTE24 EXON Missense_G343E rs71648511 1 40755556 [A/C] NM_005857 ZMPSTE24 Silent exm49140 1 40756572 [A/G] NM_005857 ZMPSTE24 EXON Missense_R369Q var_1_40756603 1 40756603 [T/G] NM_005857 ZMPSTE24 EXON Nonsense_Y379X rs61751009 1 40758116 [A/G] NM_005857 ZMPSTE24 Silent 1:40758124-CT 1 40758124 [T/C] NM_005857 ZMPSTE24 EXON Missense_S404F rs281875375 1 40758173 [I/D] NM_005857 ZMPSTE24 EXON newrs116771294 1 40758225 [T/C] NM_005857 ZMPSTE24 EXON Missense_L438F rs116771294 1 40758225 [T/C] NM_005857 ZMPSTE24 EXON Missense_L438F 1:40758262-G-A 1 40758262 [A/G] NM_005857 ZMPSTE24 EXON Nonsense_W450X chr1_40758294 1 40758294 [T/C] NM_005857 ZMPSTE24 EXON Missense_P461S exm49145 1 40758297 [G/C] NM_005857 ZMPSTE24 EXON Missense_L462V rs10489432 1 40759231 [A/G] NM_005857 ZMPSTE24 EXON Silent rs111781530 1 40761998 [A/G] JHU_1.40764582 1 40764583 [T/G] rs117703269 1 40764973 [T/C] JHU_1.40765548 1 40765549 [T/C] 1:40766888-CT 1 40766888 [T/C] NM_001852 COL9A2 EXON Missense_R679H rs148008235 1 40766905 [T/C] NM_001852 COL9A2 EXON Synonymous_S673S exm49155 1 40766942 [A/G] NM_001852 COL9A2 EXON Missense_P661L rs150687987 1 40766942 [A/G] NM_001852 COL9A2 EXON Missense_P661L exm49156 1 40766943 [T/G] NM_001852 COL9A2 EXON Missense_P661T exm1802762 1 40766972 [T/C] NM_001852 COL9A2 EXON Missense_R651Q 1:40767021-CT 1 40767021 [T/C] NM_001852 COL9A2 EXON Missense_G635S exm2273641 1 40767041 [T/C] NM_001852 COL9A2 EXON Missense_R628Q exm49171 1 40767520 [T/C] NM_001852 COL9A2 EXON Missense_G612R rs79593152 1 40767888 [T/C] NM_001852 COL9A2 Silent rs117337557 1 40768191 [A/G] NM_001852 COL9A2 Silent 1:40768303-CA 1 40768303 [A/C] NM_001852 COL9A2 EXON Synonymous_T594T 1:40768304-GA 1 40768304 [A/G] NM_001852 COL9A2 EXON Missense_T594M 1:40768324-GA 1 40768324 [A/G] NM_001852 COL9A2 EXON Synonymous_A587A exm49181 1 40768344 [T/C] NM_001852 COL9A2 EXON Missense_V581I rs3737821 1 40768344 [T/C] NM_001852 COL9A2 EXON Missense_V581I 1:40768412-GT 1 40768412 [T/G] NM_001852 COL9A2 EXON Missense_P558Q 1:40768432-CA 1 40768432 [A/C] NM_001852 COL9A2 EXON Synonymous_A551A 1:40768433-GA 1 40768433 [A/G] NM_001852 COL9A2 EXON Missense_A551V 1:40768464-CT 1 40768464 [T/C] NM_001852 COL9A2 EXON Missense_A541T rs200325312 1 40768464 [T/C] NM_001852 COL9A2 EXON Missense_A541T rs142974512 1 40768807 [A/C] NM_001852 COL9A2 EXON Synonymous_L533L exm49188 1 40768830 [T/C] NM_001852 COL9A2 EXON Missense_V526M 1:40769150-G-C 1 40769150 [G/C] NM_001852 COL9A2 Silent 1:40769322-GT 1 40769322 [T/G] NM_001852 COL9A2 EXON Nonsense_Y476X 1:40769348-GT 1 40769348 [T/G] NM_001852 COL9A2 EXON Missense_Q468K 1:40769480-TC 1 40769480 [T/C] NM_001852 COL9A2 EXON Missense_Q467R 1:40769495-GT 1 40769495 [T/G] NM_001852 COL9A2 EXON Missense_P462Q 1:40769619-GT 1 40769619 [T/G] NM_001852 COL9A2 EXON Missense_P450H 1:40769762-CA 1 40769762 [A/C] NM_001852 COL9A2 EXON Missense_G433W 1:40769772-CA 1 40769772 [A/C] NM_001852 COL9A2 Silent 1:40770028-TC 1 40770028 [T/C] NM_001852 COL9A2 EXON Synonymous_P417P rs201054854 1 40770175 [T/C] NM_001852 COL9A2 EXON Synonymous_V396V exm49216 1 40770477 [T/G] NM_001852 COL9A2 EXON Missense_M384L 1:40770504-GA 1 40770504 [A/G] NM_001852 COL9A2 EXON Nonsense_R375X 1:40770597-CA 1 40770597 [A/C] NM_001852 COL9A2 Silent 1:40771433-GA 1 40771433 [A/G] NM_001852 COL9A2 EXON Missense_P354L rs138882727 1 40771827 [A/G] NM_001852 COL9A2 EXON Synonymous_G347G 1:40771850-CT 1 40771850 [T/C] NM_001852 COL9A2 EXON Missense_G340S exm49231 1 40773119 [T/G] NM_001852 COL9A2 EXON Missense_A336E exm49232 1 40773123 [C/G] NM_001852 COL9A2 EXON Missense_L335V 1:40773144-CT 1 40773144 [T/C] NM_001852 COL9A2 EXON Missense_G328R exm49234 1 40773149 [T/C] NM_001852 COL9A2 EXON Missense_Q326R exm49235 1 40773150 [A/G] NM_001852 COL9A2 EXON Nonsense_Q326X rs12077871 1 40773150 [A/G] NM_001852 COL9A2 EXON Nonsense_Q326X exm49240 1 40773402 [A/C] NM_001852 COL9A2 EXON Missense_D309E exm1802790 1 40773410 [T/C] NM_001852 COL9A2 EXON Missense_G307S rs75996151 1 40773514 [T/G] NM_001852 COL9A2 Silent rs364281 1 40774194 [A/C] NM_001852 COL9A2 Silent JHU_1.40775277 1 40775278 [C/G] NM_001852 COL9A2 Silent 1:40775653-CT 1 40775653 [T/C] NM_001852 COL9A2 EXON Missense_G268D exm49250 1 40775800 [T/C] NM_001852 COL9A2 EXON Missense_G259S exm49256 1 40775937 [A/G] NM_001852 COL9A2 EXON Missense_T246M exm49257 1 40775980 [T/C] NM_001852 COL9A2 EXON Missense_G232S 1:40776409-CA 1 40776409 [A/C] NM_001852 COL9A2 EXON Nonsense_E221X 1:40776430-CA 1 40776430 [A/C] NM_001852 COL9A2 EXON Nonsense_G214X 1:40776440-CA 1 40776440 [A/C] NM_001852 COL9A2 Silent exm49264 1 40776766 [A/G] NM_001852 COL9A2 EXON Missense_P210L 1:40776916-GT 1 40776916 [T/G] NM_001852 COL9A2 EXON Missense_L188M exm49270 1 40776934 [T/C] NM_001852 COL9A2 EXON Missense_M182V exm49278 1 40777347 [A/G] NM_001852 COL9A2 EXON Missense_P153L exm49283 1 40777772 [T/G] NM_001852 COL9A2 EXON Missense_P126T exm49296 1 40778250 [A/C] NM_001852 COL9A2 EXON Missense_L112R rs2273195 1 40779841 [T/G] NM_001852 COL9A2 Silent 1:40779896-TG 1 40779896 [T/G] NM_001852 COL9A2 EXON Missense_D77A JHU_1.40781176 1 40781177 [A/C] NM_001852 COL9A2 Silent exm49313 1 40781317 [T/C] NM_001852 COL9A2 EXON Missense_R32Q 1:40782802-GT 1 40782802 [T/G] NM_001852 COL9A2 EXON Missense_A23E 1:40782821-CA 1 40782821 [A/C] NM_001852 COL9A2 EXON Missense_V17L exm49316 1 40782839 [A/G] NM_001852 COL9A2 EXON Missense_L11F 1:40782851-AG 1 40782851 [A/G] NM_001852 COL9A2 EXON Missense_S7P rs117981169 1 40783391 [A/G] JHU_1.40783607 1 40783608 [A/G] rs578039 1 40788961 [A/G] rs11207870 1 40789927 [T/C] JHU_1.40791134 1 40791135 [T/C] rs80019817 1 40796702 [T/C] JHU_1.40797195 1 40797196 [T/A] rs10889285 1 40800486 [A/G] rs74070917 1 40804861 [A/G] rs78261279 1 40805774 [A/G] JHU_1.40806076 1 40806077 [T/G] rs442418 1 40807033 [T/C] rs12094918 1 40810783 [A/G] rs734922 1 40814917 [A/G] rs142756743 1 40817797 [A/G] rs388538 1 40823379 [T/G] rs78931245 1 40823469 [A/G] rs3013462 1 40827598 [T/C] rs72948135 1 40828009 [A/G] rs80053778 1 40828444 [A/G] JHU_1.40829030 1 40829031 [A/G] rs1009731 1 40837969 [A/T] JHU_1.40842599 1 40842600 [T/G] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent rs209580 1 40845981 [T/C] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent rs209583 1 40847491 [A/C] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent rs6656226 1 40848821 [A/G] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent JHU_1.40852340 1 40852341 [T/C] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent JHU_1.40852424 1 40852425 [A/C] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent rs209584 1 40852821 [A/G] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent 1:40859117-CA 1 40859117 [A/C] NM_022733,NM_001198978,NM_001198979 SMAP2,SMAP2,SMAP2 EXON Silent,Silent,Missense_A10E rs2982506 1 40865633 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent rs146591345 1 40866926 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent JHU_1.40867700 1 40867701 [T/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent rs16827275 1 40870545 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent rs2982510 1 40872623 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent exm49327 1 40874410 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_P108L,Missense_P78L,Missense_P103L,Missense_P28L newrs146684027 1 40874410 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_P108L,Missense_P78L,Missense_P103L,Missense_P28L rs12563047 1 40876455 [C/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent exm49344 1 40880944 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_D191G,Missense_D161G,Missense_D186G,Missense_D111G 1:40880995-AG 1 40880995 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_E208G,Missense_E178G,Missense_E203G,Missense_E128G 1:40881939-TC 1 40881939 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_I258T,Missense_I228T,Missense_I253T,Missense_I178T exm49352 1 40881993 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_T276M,Missense_T246M,Missense_T271M,Missense_T196M exm49354 1 40882469 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_A289T,Missense_A259T,Missense_A284T,Missense_A209T exm49358 1 40882560 [C/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_G319A,Missense_G289A,Missense_G314A,Missense_G239A exm49364 1 40882727 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 EXON Missense_G375R,Missense_G345R,Missense_G370R,Missense_G295R rs11208057 1 40885832 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent rs74071023 1 40891263 [A/G] JHU_1.40891325 1 40891326 [T/G] rs12065697 1 40892589 [A/C] JHU_1.40895761 1 40895762 [A/G] rs209618 1 40897492 [A/G] JHU_1.40899137 1 40899138 [T/C] JHU_1.40899702 1 40899703 [T/C] rs12065273 1 40902209 [T/C] rs1013759 1 40903538 [A/G] JHU_1.40912300 1 40912301 [A/G] 1:40916691-CT 1 40916691 [T/C] NM_023070 ZFP69B EXON Missense_R20C chr1_40916754 1 40916754 [T/G] NM_023070 ZFP69B EXON Missense_A41S 1:40916905-A-G 1 40916905 [A/G] NM_023070 ZFP69B Silent rs2982500 1 40921145 [T/G] NM_023070 ZFP69B Silent rs12568089 1 40921238 [T/C] NM_023070 ZFP69B Silent rs115911660 1 40922125 [A/G] NM_023070 ZFP69B Silent JHU_1.40922239 1 40922240 [T/C] NM_023070 ZFP69B Silent rs41268063 1 40922534 [T/G] NM_023070 ZFP69B Silent 1:40922637-CT 1 40922637 [T/C] NM_023070 ZFP69B EXON Synonymous_D78D exm49382 1 40923018 [T/C] NM_023070 ZFP69B EXON Missense_C115R exm49383 1 40923019 [A/G] NM_023070 ZFP69B EXON Missense_C115Y 1:40923038-CT 1 40923038 [T/C] NM_023070 ZFP69B EXON Synonymous_G121G rs2036198 1 40925551 [A/G] NM_023070 ZFP69B Silent JHU_1.40925739 1 40925740 [G/C] NM_023070 ZFP69B Silent rs143263697 1 40927480 [A/G] NM_023070 ZFP69B Silent 1:40928174-TC 1 40928174 [T/C] NM_023070 ZFP69B EXON Missense_M173T exm49401 1 40928278 [A/C] NM_023070 ZFP69B EXON Missense_Q208K exm49403 1 40928318 [C/G] NM_023070 ZFP69B EXON Missense_R221T 1:40928399-AG 1 40928399 [A/G] NM_023070 ZFP69B EXON Missense_K248R exm49404 1 40928408 [A/G] NM_023070 ZFP69B EXON Missense_R251H variant.2680 1 40928524 [T/C] NM_023070 ZFP69B EXON Nonsense_Q290X exm49407 1 40928552 [A/G] NM_023070 ZFP69B EXON Missense_R299K newrs148910082 1 40928587 [T/G] NM_023070 ZFP69B EXON Nonsense_E311X exm49412 1 40928587 [T/G] NM_023070 ZFP69B EXON Nonsense_E311X 1:40928599-GA 1 40928599 [A/G] NM_023070 ZFP69B EXON Missense_A315T 1:40928636-GT 1 40928636 [T/G] NM_023070 ZFP69B EXON Missense_R327I 1:40928702-CT 1 40928702 [T/C] NM_023070 ZFP69B EXON Missense_S349L exm49416 1 40928708 [T/C] NM_023070 ZFP69B EXON Missense_T351I indel.2682 1 40928712 [I/D] NM_023070 ZFP69B EXON exm49418 1 40928731 [A/G] NM_023070 ZFP69B EXON Missense_G359R exm49419 1 40928744 [A/G] NM_023070 ZFP69B EXON Missense_Y363C variant.2683 1 40928776 [T/C] NM_023070 ZFP69B EXON Nonsense_Q374X exm49420 1 40928780 [A/G] NM_023070 ZFP69B EXON Missense_S375N indel.2684 1 40928884 [D/I] NM_023070 ZFP69B EXON 1:40928929-AG 1 40928929 [A/G] NM_023070 ZFP69B EXON Missense_S425G indel.2685 1 40928935 [D/I] NM_023070 ZFP69B EXON exm49426 1 40928950 [A/T] NM_023070 ZFP69B EXON Missense_T432S 1:40928955-CA 1 40928955 [A/C] NM_023070 ZFP69B EXON Nonsense_Y433X exm49427 1 40928969 [A/G] NM_023070 ZFP69B EXON Missense_Q438R 1:40928990-GA 1 40928990 [A/G] NM_023070 ZFP69B EXON Missense_R445K 1:40929005-AG 1 40929005 [A/G] NM_023070 ZFP69B EXON Missense_K450R exm49429 1 40929020 [T/C] NM_023070 ZFP69B EXON Missense_A455V exm2251621 1 40929105 [G/C] NM_023070 ZFP69B EXON Synonymous_A483A JHU_1.40930199 1 40930200 [T/C] rs2982502 1 40930624 [A/G] rs3969615 1 40930890 [A/G] rs2982504 1 40931819 [A/G] JHU_1.40932949 1 40932950 [T/G] JHU_1.40933097 1 40933098 [A/G] rs61781604 1 40933311 [A/G] rs6702289 1 40935786 [T/C] JHU_1.40944178 1 40944179 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 Silent,Silent,Silent exm49438 1 40945067 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_E12K,Missense_E12K,Missense_E12K exm49440 1 40947434 [T/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 Silent,Silent,Silent rs150122669 1 40947434 [T/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 Silent,Silent,Silent rs12563490 1 40948246 [T/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 Silent,Silent,Silent rs77292014 1 40951214 [T/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 Silent,Silent,Silent rs145311202 1 40951271 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 Silent,Silent,Silent rs116419914 1 40954838 [G/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_L100V,Missense_L100V,Missense_L100V exm49443 1 40954838 [G/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_L100V,Missense_L100V,Missense_L100V exm49445 1 40954877 [G/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_V113L,Missense_V113L,Missense_V113L rs34752670 1 40954877 [G/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_V113L,Missense_V113L,Missense_V113L variant.2688 1 40954891 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 Silent,Silent,Silent exm49447 1 40955200 [C/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Silent,Missense_G117R,Silent rs148785542 1 40955200 [C/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Silent,Missense_G117R,Silent indel.2690 1 40955214 [I/D] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON rs79489292 1 40956142 [T/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 Silent,Silent,Silent exm49449 1 40960619 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_E157K,Missense_E158K,Missense_E157K 1:40960702-TG 1 40960702 [T/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_I184M,Missense_I185M,Missense_I184M exm49458 1 40960827 [A/T] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_F226Y,Missense_F227Y,Missense_F226Y 1:40960863-TC 1 40960863 [T/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_I238T,Missense_I239T,Missense_I238T rs115883454 1 40960902 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_R251Q,Missense_R252Q,Missense_R251Q exm49463 1 40960902 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_R251Q,Missense_R252Q,Missense_R251Q 1:40960943-TG 1 40960943 [T/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_Y265D,Missense_Y266D,Missense_Y265D exm49465 1 40960959 [A/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_T270N,Missense_T271N,Missense_T270N indel.2692 1 40960991 [I/D] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON 1:40961025-TC 1 40961025 [T/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_I292T,Missense_I293T,Missense_I292T rs144613252 1 40961133 [T/A] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_E328V,Missense_E329V,Missense_E328V indel.2694 1 40961250 [D/I] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON indel.2695 1 40961345 [I/D] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON indel.2696 1 40961429 [D/I] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON 1:40961451-CT 1 40961451 [T/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_T434I,Missense_T435I,Missense_T434I 1:40961489-GA 1 40961489 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_A447T,Missense_A448T,Missense_A447T newrs139946046 1 40961498 [T/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Nonsense_Q450X,Nonsense_Q451X,Nonsense_Q450X chr1_40961547 1 40961547 [T/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_A466V,Missense_A467V,Missense_A466V exm49484 1 40961562 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_R471H,Missense_R472H,Missense_R471H 1:40961628-AG 1 40961628 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_K493R,Missense_K494R,Missense_K493R exm2233377 1 40961682 [A/G] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Missense_S511N,Missense_S512N,Missense_S511N rs200916688 1 40961684 [T/C] NM_198494,NM_001320178,NM_001320179 ZFP69,ZFP69,ZFP69 EXON Nonsense_R512X,Nonsense_R513X,Nonsense_R512X JHU_1.40964936 1 40964937 [A/G] rs7511983 1 40966167 [T/C] JHU_1.40966656 1 40966657 [T/C] rs3795347 1 40974156 [T/C] JHU_1.40974468 1 40974469 [C/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12068587 1 40974799 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.40975876 1 40975877 [A/T] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1KG_1_40980308 1 40980308 [I/D] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON 1:40980353-CT 1 40980353 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_P46L,Missense_P46L,Missense_P46L,Missense_P46L,Missense_P46L,Missense_P46L,Missense_P46L,Missense_P46L,Missense_P46L,Missense_P46L,Missense_P46L,Missense_P46L exm49502 1 40980559 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N,Missense_D115N indel.2701 1 40980602 [I/D] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON exm1802873 1 40980695 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G,Missense_E160G exm49510 1 40980715 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S rs145571905 1 40980715 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S,Missense_P167S exm49511 1 40980724 [T/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W rs114865185 1 40980724 [T/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W,Missense_G170W exm49512 1 40980731 [T/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V rs11208299 1 40980731 [T/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V,Missense_G172V rs143807396 1 40980757 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V,Missense_I181V 1:40980793-GA 1 40980793 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K rs146321391 1 40980793 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K,Missense_E193K exm49517 1 40980820 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C rs141898603 1 40980820 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C,Missense_R202C exm49518 1 40980826 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V,Missense_M204V rs201027512 1 40980856 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N exm49519 1 40980856 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N,Missense_D214N variant.2704 1 40980879 [A/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X,Nonsense_Y221X chr1_40981027 1 40981027 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_L271F,Missense_L271F,Missense_L271F,Missense_L271F,Missense_L271F,Missense_L271F,Missense_L271F,Missense_L271F,Missense_L271F,Missense_L271F,Missense_L271F,Missense_L271F 1:40981091-TC 1 40981091 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_I292T,Missense_I292T,Missense_I292T,Missense_I292T,Missense_I292T,Missense_I292T,Missense_I292T,Missense_I292T,Missense_I292T,Missense_I292T,Missense_I292T,Missense_I292T exm49528 1 40981135 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V,Missense_I307V 1:40981239-GA 1 40981239 [A/G] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Nonsense_W341X,Nonsense_W341X,Nonsense_W341X,Nonsense_W341X,Nonsense_W341X,Nonsense_W341X,Nonsense_W341X,Nonsense_W341X,Nonsense_W341X,Nonsense_W341X,Nonsense_W341X,Nonsense_W341X 1:40981256-CA 1 40981256 [A/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_T347N,Missense_T347N,Missense_T347N,Missense_T347N,Missense_T347N,Missense_T347N,Missense_T347N,Missense_T347N,Missense_T347N,Missense_T347N,Missense_T347N,Missense_T347N exm49537 1 40981313 [T/C] NM_001346949,NM_001346952,NM_001346947,NM_001346953,NM_001346954,NM_001346955,NM_001346946,NM_001346950,NM_001346951,NM_022774,NM_001346948,NM_001346956 EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5,EXO5 EXON Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V rs74677928 1 40985465 [T/A] rs75723422 1 40990655 [T/C] rs2184877 1 40996932 [T/C] JHU_1.41002081 1 41002082 [A/G] NM_152373 ZNF684 Silent variant.2706 1 41007285 [A/G] NM_152373 ZNF684 Silent 1:41007322-GA 1 41007322 [A/G] NM_152373 ZNF684 EXON Missense_V60I rs7524182 1 41010378 [T/C] NM_152373 ZNF684 Silent rs11208363 1 41010454 [A/G] NM_152373 ZNF684 Silent 1:41012243-TACC-T 1 41012243 [D/I] NM_152373 ZNF684 EXON exm49562 1 41012533 [A/C] NM_152373 ZNF684 EXON Missense_N180H newrs149604550 1 41012572 [T/G] NM_152373 ZNF684 EXON Nonsense_G193X 1:41012579-GC-G 1 41012579 [D/I] NM_152373 ZNF684 EXON exm49574 1 41012585 [A/G] NM_152373 ZNF684 EXON Missense_S197N chr1_41012593 1 41012593 [A/G] NM_152373 ZNF684 EXON Missense_A200T exm49577 1 41012663 [T/C] NM_152373 ZNF684 EXON Missense_A223V exm49581 1 41012686 [A/G] NM_152373 ZNF684 EXON Missense_V231M exm49582 1 41012726 [A/C] NM_152373 ZNF684 EXON Missense_E244A var_1_41012757 1 41012757 [A/G] NM_152373 ZNF684 EXON Nonsense_W254X 1:41013038-CT 1 41013038 [T/C] NM_152373 ZNF684 EXON Missense_T348I exm49595 1 41013073 [A/T] NM_152373 ZNF684 EXON Missense_C360S 1:41018830-A-G 1 41018830 [A/G] JHU_1.41019924 1 41019925 [T/G] rs61779180 1 41020733 [A/G] JHU_1.41022791 1 41022792 [A/C] rs74685908 1 41029311 [A/G] rs7537003 1 41032059 [A/G] rs75899436 1 41033859 [T/C] rs183144036 1 41037729 [A/G] rs4660436 1 41042068 [A/G] rs72941527 1 41049273 [G/C] rs16865685 1 41049437 [A/G] rs4660438 1 41050952 [A/G] rs114963487 1 41053801 [T/C] JHU_1.41057009 1 41057010 [A/T] JHU_1.41057500 1 41057501 [A/G] rs16827403 1 41057570 [A/C] rs146433024 1 41058916 [A/G] rs145187811 1 41059558 [A/G] rs7526314 1 41061519 [T/C] rs143585746 1 41069326 [T/C] JHU_1.41069740 1 41069741 [T/C] JHU_1.41069989 1 41069990 [T/A] JHU_1.41071977 1 41071978 [T/C] rs618144 1 41073802 [A/G] rs55771243 1 41073922 [T/G] JHU_1.41074089 1 41074090 [A/G] JHU_1.41076326 1 41076327 [A/T] JHU_1.41076457 1 41076458 [A/G] rs68042364 1 41081092 [T/C] rs504242 1 41081354 [C/G] JHU_1.41082668 1 41082669 [A/T] JHU_1.41084017 1 41084018 [G/C] rs12059305 1 41085926 [A/G] rs61779210 1 41088205 [A/G] NM_014747 RIMS3 EXON Silent rs117083668 1 41089274 [C/G] NM_014747 RIMS3 EXON Silent rs570671 1 41091127 [T/C] NM_014747 RIMS3 EXON Silent 1:41091578-T-C 1 41091578 [T/C] NM_014747 RIMS3 EXON Silent 1:41092254-CT 1 41092254 [T/C] NM_014747 RIMS3 EXON Missense_G288R 1:41092282-TGGG-T 1 41092282 [D/I] NM_014747 RIMS3 EXON exm49613 1 41092395 [T/C] NM_014747 RIMS3 EXON Missense_V241I rs72941570 1 41092578 [T/C] NM_014747 RIMS3 Silent rs201301694 1 41094490 [T/C] NM_014747 RIMS3 EXON Missense_V236M rs188646274 1 41094502 [A/G] NM_014747 RIMS3 EXON Missense_P232S exm49615 1 41094502 [A/G] NM_014747 RIMS3 EXON Missense_P232S 1:41094577-CT 1 41094577 [T/C] NM_014747 RIMS3 EXON Missense_A207T exm49620 1 41094964 [G/C] NM_014747 RIMS3 EXON Missense_P185A 1:41094979-CT 1 41094979 [T/C] NM_014747 RIMS3 EXON Missense_G180S exm49626 1 41095033 [T/C] NM_014747 RIMS3 EXON Missense_I162V JHU_1.41096946 1 41096947 [T/C] NM_014747 RIMS3 Silent 1:41101726-CT 1 41101726 [T/C] NM_014747 RIMS3 EXON Missense_G74E rs12562229 1 41105238 [A/G] NM_014747 RIMS3 Silent rs7524868 1 41106774 [T/G] NM_014747 RIMS3 Silent JHU_1.41107016 1 41107017 [C/G] NM_014747 RIMS3 Silent exm2273642 1 41107525 [T/C] NM_014747 RIMS3 EXON Missense_G25S exm49648 1 41107564 [T/C] NM_014747 RIMS3 EXON Missense_G12R rs664350 1 41108094 [T/C] NM_014747 RIMS3 Silent rs2780944 1 41115608 [T/C] NM_014747 RIMS3 Silent rs76665968 1 41116618 [T/C] NM_014747 RIMS3 Silent rs145759403 1 41118202 [A/G] NM_014747 RIMS3 Silent JHU_1.41118284 1 41118285 [T/C] NM_014747 RIMS3 Silent JHU_1.41119163 1 41119164 [T/C] NM_014747 RIMS3 Silent rs191077878 1 41120780 [T/C] NM_014747 RIMS3 Silent rs78631794 1 41124257 [A/G] NM_014747 RIMS3 Silent JHU_1.41126023 1 41126024 [A/G] NM_014747 RIMS3 Silent rs7546534 1 41128181 [T/C] NM_014747 RIMS3 Silent rs12044426 1 41139341 [A/G] rs545218 1 41140985 [A/G] JHU_1.41144255 1 41144256 [T/C] rs12137814 1 41144256 [T/C] rs4660170 1 41146610 [T/C] JHU_1.41148374 1 41148375 [A/G] rs965949 1 41154407 [A/G] rs2744801 1 41155486 [T/C] NR_024567 NFYC-AS1 EXON Silent JHU_1.41156940 1 41156941 [T/C] NR_024567 NFYC-AS1 EXON Silent 1:41157305-CT 1 41157305 [T/C] NR_024567,NM_014223,NM_001142589,NM_001142587,NM_001142588 NFYC-AS1,NFYC,NFYC,NFYC,NFYC EXON Silent,Silent,Silent,Silent,Silent JHU_1.41157409 1 41157410 [G/C] NR_024567,NM_014223,NM_001142589,NM_001142587,NM_001142588 NFYC-AS1,NFYC,NFYC,NFYC,NFYC EXON Silent,Silent,Silent,Silent,Silent 1:41157416-GT 1 41157416 [T/G] NR_024567,NM_014223,NM_001142589,NM_001142587,NM_001142588 NFYC-AS1,NFYC,NFYC,NFYC,NFYC EXON Silent,Silent,Silent,Silent,Silent 1:41157447-CT 1 41157447 [T/C] NR_024567,NM_014223,NM_001142589,NM_001142587,NM_001142588 NFYC-AS1,NFYC,NFYC,NFYC,NFYC EXON Silent,Silent,Silent,Silent,Silent 1:41164817-T-C 1 41164817 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent rs61202601 1 41165760 [A/G] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent rs74888385 1 41167870 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent rs11208727 1 41170670 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent 1:41172082-A-G 1 41172082 [A/G] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent rs112476341 1 41198299 [A/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41198691 1 41198692 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41202301 1 41202302 [G/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent,Silent exm-rs1057925 1 41204569 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S rs1057925 1 41204569 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S,Synonymous_S18S 1:41204585-CA 1 41204585 [A/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_P24T,Missense_P24T,Missense_P24T,Missense_P24T,Missense_P24T,Missense_P24T,Missense_P24T exm49657 1 41204615 [A/G] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A rs76504694 1 41205237 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41212169 1 41212170 [T/G] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2274956 1 41212950 [A/G] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.2720 1 41215356 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Nonsense_Q97X,Silent,Nonsense_Q97X,Nonsense_Q97X,Nonsense_Q97X,Nonsense_Q97X,Nonsense_Q97X exm2251681 1 41223876 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Synonymous_V157V,Synonymous_V119V,Synonymous_V157V,Synonymous_V157V,Synonymous_V157V,Synonymous_V157V,Synonymous_V157V rs11208830 1 41226602 [A/G] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41229786 1 41229787 [G/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent,Silent,Silent exm49687 1 41232317 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_V257A,Missense_V219A,Missense_V257A,Missense_V257A,Missense_V223A,Missense_V257A,Missense_V257A 1:41232395-AC 1 41232395 [A/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.2721 1 41232620 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Silent,Silent,Silent,Nonsense_R287X,Silent,Silent,Nonsense_R287X 1:41236244-CT 1 41236244 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Silent,Silent,Silent,Silent,Silent,Missense_T355I,Missense_T374I 1:41236411-CT 1 41236411 [T/C] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_P307S,Missense_P269S,Missense_P306S,Missense_P326S,Missense_P273S,Missense_P411S,Missense_P430S exm49698 1 41236492 [A/G] NM_014223,NM_001142589,NM_001142587,NM_001142588,NM_001142590,NM_001308115,NM_001308114 NFYC,NFYC,NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_G334S,Missense_G296S,Missense_G333S,Missense_G353S,Missense_G300S,Missense_G438S,Missense_G457S rs753753 1 41237388 [A/G] exm-rs4660456 1 41239511 [A/G] rs2769255 1 41245354 [T/C] JHU_1.41250679 1 41250680 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs191955014 1 41251422 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs7551296 1 41253259 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent JHU_1.41253420 1 41253421 [T/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs7549877 1 41255231 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs12723678 1 41255387 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs72661504 1 41259966 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs4660463 1 41265626 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent JHU_1.41265947 1 41265948 [C/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs4660464 1 41267258 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs74927591 1 41268525 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs9970339 1 41268566 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent JHU_1.41269238 1 41269239 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs727145 1 41272533 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs11208958 1 41276073 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs729519 1 41278224 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent JHU_1.41280557 1 41280558 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent JHU_1.41281500 1 41281501 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent JHU_1.41282045 1 41282046 [C/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent JHU_1.41282568 1 41282569 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs13374844 1 41282919 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent exm1806652 1 41282938 [T/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_F106V,Missense_F106V rs189892658 1 41282938 [T/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_F106V,Missense_F106V seq-rs727504635 1 41283888 [D/I] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON JHU_1.41284086 1 41284087 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent Variant48300 1 41284292 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Synonymous_R216R,Synonymous_R216R JHU_1.41284804 1 41284805 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent 1:41285044-GA 1 41285044 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_G245E,Missense_G245E rs4660468 1 41285087 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Synonymous_A259A,Synonymous_A259A 1:41285088-G-A 1 41285088 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_E260K,Missense_E260K 1:41285095-A-T 1 41285095 [A/T] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_D262V,Missense_D262V 1:41285137-G-C 1 41285137 [C/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_W276S,Missense_W276S 1:41285554-T-C 1 41285554 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_L281S,Missense_L281S seq-rs28937588 1 41285565 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_G285S,Missense_G285S 1:41285852-G-A 1 41285852 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_G321S,Missense_G321S JHU_1.41286108 1 41286109 [A/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs72949104 1 41286608 [A/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs55679729 1 41286623 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent JHU_1.41287435 1 41287436 [C/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent JHU_1.41288104 1 41288105 [C/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs78806270 1 41288530 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent exm49741 1 41289822 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Silent,Missense_R395Q chr1_41289870 1 41289870 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Silent,Missense_R411H 1:41289881-GA 1 41289881 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Silent,Missense_V415I 1:41289911-TG 1 41289911 [T/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Silent,Missense_S425A rs3767941 1 41290235 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs79743711 1 41291965 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs112770611 1 41292385 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs6697721 1 41293001 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs3767943 1 41293419 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent JHU_1.41294231 1 41294232 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs1041239 1 41295542 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs76711792 1 41295680 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent JHU_1.41295729 1 41295730 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs72661517 1 41296181 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs61778969 1 41296226 [T/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent 1:41296760-CT 1 41296760 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_R379W,Missense_R433W 1:41296809-CT 1 41296809 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_T395M,Missense_T449M exm49755 1 41296828 [T/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_H401Q,Missense_H455Q 1:41296926-GA 1 41296926 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_R434H,Missense_R488H rs201025485 1 41296962 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_R446H,Missense_R500H 1:41296962-GA 1 41296962 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_R446H,Missense_R500H exm2251683 1 41297411 [T/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs6703719 1 41297655 [T/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs913378 1 41298652 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs75407434 1 41299109 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs35608423 1 41300426 [T/C] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs34480358 1 41300536 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs6676655 1 41301026 [C/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent rs74569679 1 41302201 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 Silent,Silent 1:41304113-AG 1 41304113 [A/G] NM_172163,NM_004700 KCNQ4,KCNQ4 EXON Missense_H615R,Missense_H669R exm2268881 1 41306571 [T/C] JHU_1.41309783 1 41309784 [T/C] JHU_1.41310539 1 41310540 [T/G] rs913380 1 41314358 [A/T] rs11209015 1 41315679 [T/C] rs12403717 1 41315867 [A/C] JHU_1.41319051 1 41319052 [A/G] JHU_1.41319084 1 41319085 [A/G] rs74068225 1 41319085 [A/G] JHU_1.41319658 1 41319659 [T/C] rs56025967 1 41320568 [T/C] rs17357593 1 41320774 [A/C] JHU_1.41322298 1 41322299 [A/G] rs78473777 1 41323707 [A/C] rs913382 1 41323882 [T/C] rs115751036 1 41324289 [T/C] rs12086550 1 41324470 [T/C] rs11209041 1 41325801 [A/G] rs11209054 1 41332421 [A/G] rs1359893 1 41338665 [A/G] rs137869943 1 41339680 [T/C] rs913389 1 41343608 [A/G] JHU_1.41345492 1 41345493 [T/G] JHU_1.41346079 1 41346080 [A/G] rs728859 1 41347228 [A/C] rs10158668 1 41351613 [T/C] rs4660481 1 41354681 [T/C] JHU_1.41357215 1 41357216 [A/C] rs190704437 1 41361209 [A/G] JHU_1.41364974 1 41364975 [A/G] rs77610645 1 41367277 [T/G] rs77750922 1 41368720 [T/G] rs4660484 1 41369334 [A/G] rs12133860 1 41370066 [T/C] 1:41372382-T-G 1 41372382 [T/G] rs3856250 1 41374443 [T/C] rs7541654 1 41375164 [A/G] rs11581217 1 41377764 [T/A] rs6674863 1 41378076 [T/C] rs4233486 1 41380440 [T/C] JHU_1.41386152 1 41386153 [T/G] rs7554973 1 41387003 [T/C] JHU_1.41387216 1 41387217 [T/C] JHU_1.41389393 1 41389394 [A/G] JHU_1.41390584 1 41390585 [A/G] rs114964176 1 41391011 [T/C] rs1887542 1 41395072 [A/G] rs12401381 1 41396274 [T/C] rs7542619 1 41398582 [A/G] rs2361654 1 41399738 [T/G] rs72948833 1 41400248 [A/G] rs4660492 1 41402143 [T/C] rs12043667 1 41404596 [T/C] rs181000460 1 41404658 [A/G] rs114679673 1 41404937 [T/G] rs11209213 1 41406460 [A/G] rs75909266 1 41409245 [A/G] 1:41410356-T-C 1 41410356 [T/C] JHU_1.41410620 1 41410621 [A/C] JHU_1.41411711 1 41411712 [T/A] rs11582127 1 41412547 [T/C] JHU_1.41420847 1 41420848 [A/G] JHU_1.41420927 1 41420928 [T/G] rs79098451 1 41421308 [T/C] JHU_1.41421335 1 41421336 [A/G] rs11579213 1 41421573 [T/G] rs140229677 1 41421952 [T/C] JHU_1.41422098 1 41422099 [T/C] rs12067645 1 41425864 [A/G] rs12723637 1 41425927 [T/C] JHU_1.41431367 1 41431368 [T/C] rs71648532 1 41431939 [T/C] JHU_1.41431938 1 41431939 [T/C] rs10789262 1 41437417 [T/C] rs6600361 1 41441267 [T/C] JHU_1.41442731 1 41442732 [A/G] rs4440845 1 41442786 [T/C] rs16827810 1 41447366 [A/G] NR_125440,NM_001905 CTPS1,CTPS1 Silent,Silent rs72663731 1 41449302 [T/C] NR_125440,NM_001905 CTPS1,CTPS1 Silent,Silent rs4132440 1 41449629 [A/G] NR_125440,NM_001905 CTPS1,CTPS1 Silent,Silent JHU_1.41451832 1 41451833 [A/G] NR_125440,NM_001905 CTPS1,CTPS1 Silent,Silent rs6675165 1 41452179 [A/G] NR_125440,NM_001905 CTPS1,CTPS1 Silent,Silent rs200274195 1 41453067 [A/G] NR_125440,NM_001905 CTPS1,CTPS1 EXON Silent,Missense_I121V JHU_1.41454327 1 41454328 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Synonymous_Q167Q,Synonymous_Q11Q rs61780428 1 41455602 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent 1:41456251-A-G 1 41456251 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent JHU_1.41456304 1 41456305 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent rs4660182 1 41456553 [T/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent rs116700741 1 41456821 [T/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent exm2251684 1 41456851 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Synonymous_G190G,Synonymous_G34G variant.2729 1 41457472 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Synonymous_S225S,Synonymous_S69S JHU_1.41458216 1 41458217 [A/T] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent indel.2730 1 41461697 [D/I] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON rs115308305 1 41462788 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent rs146768147 1 41463489 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent JHU_1.41464133 1 41464134 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent newrs36007898 1 41467918 [I/D] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON exm49851 1 41468787 [T/C] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Synonymous_G397G,Synonymous_G241G rs60978176 1 41469582 [T/C] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent rs79483435 1 41470033 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent rs77866749 1 41470110 [T/C] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent 1:41471999-A-G 1 41471999 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent 1:41474348-GA 1 41474348 [A/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Missense_A471T,Missense_A315T exm1806721 1 41474354 [T/C] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Missense_Y473H,Missense_Y317H 1:41475203-CA 1 41475203 [A/C] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 EXON Silent,Missense_L545M,Missense_L389M exm49870 1 41475832 [C/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent rs145092287 1 41475832 [C/G] NR_125440,NM_001905,NM_001301237 CTPS1,CTPS1,CTPS1 Silent,Silent,Silent rs12121539 1 41481287 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Silent,Silent,Silent 1KG_1_41481863 1 41481863 [I/D] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON 1:41481899-CCT-C 1 41481899 [I/D] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON rs145895751 1 41482367 [A/T] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Silent,Silent,Silent 1:41482929-CT 1 41482929 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_A360T,Missense_A360T,Missense_A301T exm1806733 1 41482960 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Synonymous_D349D,Synonymous_D349D,Synonymous_D290D exm49889 1 41482976 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_V344A,Missense_V344A,Missense_V285A exm49890 1 41482989 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_D340N,Missense_D340N,Missense_D281N 1:41483034-CT 1 41483034 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_V325M,Missense_V325M,Missense_V266M exm49894 1 41483312 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_L318F,Missense_L318F,Missense_L259F exm49898 1 41483369 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_D299N,Missense_D299N,Missense_D240N exm49900 1 41483375 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_F297L,Missense_F297L,Missense_F238L exm49905 1 41483437 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_R276H,Missense_R276H,Missense_R217H exm49908 1 41483486 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_V260M,Missense_V260M,Missense_V201M exm49910 1 41483501 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_G255S,Missense_G255S,Missense_G196S exm49917 1 41483537 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_V243M,Missense_V243M,Missense_V184M exm49919 1 41483567 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_E233K,Missense_E233K,Missense_E174K exm1806741 1 41483578 [G/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_R229P,Missense_R229P,Missense_R170P 1:41483603-CT 1 41483603 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_E221K,Missense_E221K,Missense_E162K 1:41483641-CA 1 41483641 [A/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_G208V,Missense_G208V,Missense_G149V 1:41483771-CA 1 41483771 [A/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_G165C,Missense_G165C,Silent exm49929 1 41483780 [T/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_P162T,Missense_P162T,Silent 1:41483806-GTCC-G 1 41483806 [D/I] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON rs117188502 1 41485168 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 Silent,Silent,Silent,Silent 1:41486076-AG 1 41486076 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_V86A,Missense_V86A,Missense_V86A exm49944 1 41486083 [A/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Nonsense_E84X,Nonsense_E84X,Nonsense_E84X 1:41486161-AC 1 41486161 [A/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_F58V,Missense_F58V,Missense_F58V 1:41486179-CT 1 41486179 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_G52S,Missense_G52S,Missense_G52S exm49959 1 41486196 [A/G] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_A46V,Missense_A46V,Missense_A46V exm1806747 1 41486208 [T/A] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_E42V,Missense_E42V,Missense_E42V exm49967 1 41486245 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_A30T,Missense_A30T,Missense_A30T exm49968 1 41486266 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 EXON Silent,Missense_E23K,Missense_E23K,Missense_E23K rs183232121 1 41487165 [T/C] NR_037868,NM_144990,NM_001168247,NM_001300859 SLFNL1-AS1,SLFNL1,SLFNL1,SLFNL1 Silent,Silent,Silent,Silent rs41301074 1 41493784 [C/G] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:41493895-TC 1 41493895 [T/C] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_I591V,Missense_I472V,Missense_I569V,Missense_I569V,Silent,Missense_I640V,Missense_I462V,Missense_I652V,Missense_I561V,Missense_I583V 1:41493916-CA 1 41493916 [A/C] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_A584S,Missense_A465S,Missense_A562S,Missense_A562S,Silent,Missense_A633S,Missense_A455S,Missense_A645S,Missense_A554S,Missense_A576S 1:41494342-AC 1 41494342 [A/C] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_S530A,Missense_S411A,Missense_S508A,Missense_S508A,Silent,Missense_S579A,Missense_S401A,Missense_S591A,Missense_S500A,Missense_S522A exm50000 1 41494395 [A/G] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_S512L,Missense_S393L,Missense_S490L,Missense_S490L,Silent,Missense_S561L,Missense_S383L,Missense_S573L,Missense_S482L,Missense_S504L rs144718005 1 41494540 [A/G] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4660183 1 41496034 [C/G] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79905478 1 41496224 [A/G] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:41499690-TC 1 41499690 [T/C] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_D499G,Silent,Silent,Silent,Silent,Silent,Silent,Missense_D560G,Missense_D469G,Silent 1:41499706-AG 1 41499706 [A/G] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_S494P,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S555P,Missense_S464P,Silent 1:41503094-GA 1 41503094 [A/G] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_L469F,Missense_L372F,Missense_L469F,Missense_L469F,Silent,Missense_L540F,Missense_L362F,Missense_L530F,Missense_L439F,Missense_L483F 1:41503181-GA 1 41503181 [A/G] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_R440C,Missense_R343C,Missense_R440C,Missense_R440C,Silent,Missense_R511C,Missense_R333C,Missense_R501C,Missense_R410C,Missense_R454C rs77427255 1 41507338 [A/G] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs369842947 1 41508518 [T/C] NR_037868,NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2268680 1 41510708 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1806762 1 41512133 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_H411Y,Missense_H314Y,Missense_H411Y,Missense_H411Y,Silent,Missense_H482Y,Missense_H304Y,Missense_H472Y,Missense_H381Y,Missense_H425Y exm50022 1 41512204 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_R387H,Missense_R290H,Missense_R387H,Missense_R387H,Silent,Missense_R458H,Missense_R280H,Missense_R448H,Missense_R357H,Missense_R401H 1:41512258-CT 1 41512258 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_R369Q,Missense_R272Q,Missense_R369Q,Missense_R369Q,Silent,Missense_R440Q,Missense_R262Q,Missense_R430Q,Missense_R339Q,Missense_R383Q JHU_1.41512979 1 41512980 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm50026 1 41514407 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_V350I,Missense_V253I,Missense_V350I,Missense_V350I,Silent,Missense_V421I,Missense_V243I,Missense_V411I,Missense_V320I,Missense_V364I exm50029 1 41514455 [T/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_Q334K,Missense_Q237K,Missense_Q334K,Missense_Q334K,Silent,Missense_Q405K,Missense_Q227K,Missense_Q395K,Missense_Q304K,Missense_Q348K 1:41514472-CT 1 41514472 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_R328H,Missense_R231H,Missense_R328H,Missense_R328H,Silent,Missense_R399H,Missense_R221H,Missense_R389H,Missense_R298H,Missense_R342H JHU_1.41515003 1 41515004 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41521294 1 41521295 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72663755 1 41523579 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41523578 1 41523579 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4660184 1 41524538 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs149467565 1 41529799 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6686842 1 41530871 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs6686842 1 41530871 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm50037 1 41540902 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_P252S,Missense_P155S,Missense_P252S,Missense_P252S,Silent,Missense_P323S,Missense_P145S,Missense_P313S,Missense_P222S,Missense_P266S 1:41541040-CT 1 41541040 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_E206K,Missense_E109K,Missense_E206K,Missense_E206K,Silent,Missense_E277K,Missense_E99K,Missense_E267K,Missense_E176K,Missense_E220K exm50045 1 41541123 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_V178A,Missense_V81A,Missense_V178A,Missense_V178A,Silent,Missense_V249A,Missense_V71A,Missense_V239A,Missense_V148A,Missense_V192A rs141250771 1 41542990 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41551368 1 41551369 [A/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6685340 1 41552300 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12022978 1 41554088 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2024860 1 41562243 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3819842 1 41563086 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs185698962 1 41564478 [A/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41565927 1 41565928 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs188065279 1 41570465 [A/T] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41570614 1 41570615 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41570640 1 41570641 [T/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs117485644 1 41579688 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs213765 1 41582006 [T/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41585114 1 41585115 [A/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs213759 1 41592998 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41602765 1 41602766 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41606618 1 41606619 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm50068 1 41608601 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Nonsense_Q50X,Nonsense_Q64X,Nonsense_Q50X,Nonsense_Q50X,Silent,Nonsense_Q121X,Silent,Nonsense_Q111X,Synonymous_S18S,Nonsense_Q64X rs213769 1 41615358 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2273643 1 41617321 [T/A] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Silent,Silent,Silent,Missense_C48S,Silent,Missense_C38S,Silent,Silent variant.2747 1 41618271 [T/C] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G26S,Silent,Silent exm50073 1 41618297 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P17L,Silent,Silent JHU_1.41621126 1 41621127 [A/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41626183 1 41626184 [T/G] NM_001172221,NM_001172222,NM_001172218,NM_001172220,NR_135092,NM_001172219,NM_001350668,NM_001031694,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.41633307 1 41633308 [T/C] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent JHU_1.41634918 1 41634919 [T/G] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent rs11209615 1 41640110 [A/G] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent rs11584802 1 41640686 [A/G] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent JHU_1.41651696 1 41651697 [A/G] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent 1:41652527-A-T 1 41652527 [A/T] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent rs72665626 1 41666739 [T/A] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent JHU_1.41669057 1 41669058 [T/C] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent JHU_1.41679565 1 41679566 [A/T] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent rs11209718 1 41688938 [T/C] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent rs142885700 1 41698439 [T/C] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent JHU_1.41707192 1 41707193 [T/C] NM_001172218,NM_001172220,NM_001172219,NM_001350667,NM_012236 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent rs72665651 1 41727854 [T/C] JHU_1.41730940 1 41730941 [T/C] rs11209779 1 41737489 [T/C] JHU_1.41738636 1 41738637 [T/C] rs2154319 1 41745770 [T/C] exm-rs2154319 1 41745770 [T/C] rs1892426 1 41745970 [T/C] JHU_1.41752193 1 41752194 [T/C] rs11209799 1 41755556 [T/G] 1:41756626-T-C 1 41756626 [T/C] rs1343777 1 41757855 [A/G] rs7548367 1 41761080 [G/C] rs12030183 1 41761220 [T/C] rs12037657 1 41764175 [T/C] JHU_1.41765209 1 41765210 [A/G] JHU_1.41768228 1 41768229 [A/G] rs141028863 1 41775024 [A/G] rs75078978 1 41777980 [A/G] rs57025687 1 41780309 [T/A] JHU_1.41781565 1 41781566 [T/C] JHU_1.41785525 1 41785526 [T/C] rs2154317 1 41785792 [A/G] 1:41786855-G-A 1 41786855 [A/G] rs16828092 1 41790077 [A/G] rs61774726 1 41793955 [A/G] rs17362424 1 41794403 [T/G] 1:41796171-A-G 1 41796171 [A/G] rs7355092 1 41800596 [T/G] rs4660522 1 41804234 [A/C] rs112287916 1 41810369 [T/C] rs146614653 1 41815894 [A/G] rs4660190 1 41817502 [T/C] JHU_1.41821262 1 41821263 [A/G] rs7349069 1 41822753 [T/C] JHU_1.41822990 1 41822991 [G/C] JHU_1.41826241 1 41826242 [T/C] rs11585393 1 41830257 [T/C] NM_001291281 FOXO6 Silent JHU_1.41831360 1 41831361 [C/G] NM_001291281 FOXO6 Silent rs6600373 1 41831554 [T/C] NM_001291281 FOXO6 Silent rs6693260 1 41839495 [T/A] NM_001291281 FOXO6 Silent rs4660531 1 41839822 [T/G] NM_001291281 FOXO6 Silent JHU_1.41841924 1 41841925 [T/C] NM_001291281 FOXO6 Silent rs6690527 1 41841986 [T/C] NM_001291281 FOXO6 Silent rs11209971 1 41844293 [A/G] NM_001291281 FOXO6 Silent rs56053787 1 41845115 [A/C] NM_001291281 FOXO6 Silent rs79327325 1 41846000 [A/C] NM_001291281 FOXO6 Silent 1:41847499-GA 1 41847499 [A/G] NM_001291281 FOXO6 EXON Missense_R209Q 1:41848296-GA 1 41848296 [A/G] NM_001291281 FOXO6 EXON Missense_A475T JHU_1.41848809 1 41848810 [A/C] NM_001291281 FOXO6 EXON Silent rs10889959 1 41849735 [T/C] JHU_1.41850732 1 41850733 [A/G] JHU_1.41852292 1 41852293 [A/G] JHU_1.41852551 1 41852552 [G/C] rs12729079 1 41853700 [T/G] rs2364546 1 41854357 [A/G] rs78589412 1 41855066 [A/C] rs74069603 1 41857062 [A/G] JHU_1.41857061 1 41857062 [A/G] rs12138454 1 41857258 [A/G] JHU_1.41857746 1 41857747 [T/C] JHU_1.41859514 1 41859515 [A/G] rs10889978 1 41862125 [A/G] JHU_1.41862827 1 41862828 [C/G] JHU_1.41862913 1 41862914 [T/A] JHU_1.41863558 1 41863559 [A/G] JHU_1.41863707 1 41863708 [T/C] rs3845572 1 41864364 [T/C] JHU_1.41866149 1 41866150 [A/G] rs2971987 1 41867980 [A/G] rs79940605 1 41871316 [A/G] rs2997338 1 41872078 [T/G] rs117645951 1 41872748 [A/G] rs2801966 1 41876037 [T/A] rs2801962 1 41878988 [T/C] rs12402711 1 41879081 [A/G] exm-rs12402711 1 41879081 [A/G] JHU_1.41880229 1 41880230 [A/G] rs143005063 1 41880792 [T/C] JHU_1.41882306 1 41882307 [A/G] rs3856254 1 41883722 [A/G] rs74069634 1 41885326 [T/C] JHU_1.41888611 1 41888612 [T/G] rs12133441 1 41889513 [A/C] rs57713851 1 41892022 [A/G] JHU_1.41892654 1 41892655 [T/C] JHU_1.41892700 1 41892701 [T/C] JHU_1.41892741 1 41892742 [T/C] rs78251402 1 41893834 [T/G] rs12120129 1 41894171 [A/G] rs76516129 1 41897257 [T/C] rs75077363 1 41897841 [C/G] rs74701136 1 41900121 [T/C] rs79993154 1 41900394 [T/G] rs2810570 1 41901066 [A/T] rs1938003 1 41901648 [T/A] JHU_1.41902796 1 41902797 [A/G] rs142702007 1 41903767 [T/C] rs4262533 1 41904847 [A/G] JHU_1.41905704 1 41905705 [T/C] rs11210142 1 41910825 [T/C] rs115127597 1 41913396 [A/G] rs74769246 1 41914720 [T/G] JHU_1.41915485 1 41915486 [A/T] rs12132120 1 41915964 [G/C] rs78681203 1 41917212 [T/C] rs4233490 1 41918190 [T/C] rs58654151 1 41918294 [A/G] JHU_1.41918857 1 41918858 [T/G] JHU_1.41919175 1 41919176 [C/G] rs117620297 1 41925033 [A/T] rs2483692 1 41925050 [T/C] rs59873640 1 41925346 [T/G] rs115512171 1 41925824 [T/C] 1:41927532-T-C 1 41927532 [T/C] rs12567360 1 41927544 [A/G] rs2810577 1 41930476 [G/C] rs1537522 1 41935450 [T/C] rs116717320 1 41938619 [A/G] rs12069358 1 41940687 [T/C] rs1407550 1 41942104 [A/C] JHU_1.41943257 1 41943258 [T/C] rs6690839 1 41944183 [A/C] 1:41945114-GA 1 41945114 [A/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_P135L,Missense_P168L exm50093 1 41945139 [A/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Nonsense_R127X,Nonsense_R160X exm50094 1 41945165 [T/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_S118Y,Missense_S151Y exm50095 1 41945170 [T/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_D116E,Missense_D149E 1:41946790-GA 1 41946790 [A/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Silent,Missense_T140I exm50100 1 41946812 [T/C] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Silent,Missense_T133A chr1_41946830 1 41946830 [A/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Silent,Missense_P127S 1:41948146-CT 1 41948146 [T/C] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_R112Q,Missense_R112Q exm50110 1 41948213 [A/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_R90C,Missense_R90C 1:41948230-GA 1 41948230 [A/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_P84L,Missense_P84L JHU_1.41948990 1 41948991 [T/C] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 Silent,Silent,Silent rs11210277 1 41949172 [T/C] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 Silent,Silent,Silent exm50113 1 41949761 [T/C] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_V60I,Missense_V60I exm50116 1 41949838 [A/G] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_A34V,Missense_A34V exm50120 1 41950242 [T/C] NR_126098,NM_001302269,NM_001956 EDN2,EDN2,EDN2 EXON Silent,Missense_V11I,Missense_V11I rs11210283 1 41951858 [C/G] rs3754287 1 41952597 [T/C] JHU_1.41952858 1 41952859 [T/A] exm2264828 1 41953186 [A/G] rs12718439 1 41953745 [T/C] JHU_1.41954400 1 41954401 [T/C] JHU_1.41955625 1 41955626 [G/C] JHU_1.41958802 1 41958803 [T/C] JHU_1.41962537 1 41962538 [A/G] rs747459 1 41962681 [T/G] rs111536323 1 41963676 [A/G] JHU_1.41964782 1 41964783 [T/G] rs12037937 1 41964995 [T/C] rs55848529 1 41967167 [A/G] rs2991345 1 41969327 [T/C] JHU_1.41971000 1 41971001 [A/G] rs12043801 1 41971227 [A/C] rs7542858 1 41972251 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Silent,Silent JHU_1.41972282 1 41972283 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Silent,Silent rs3738577 1 41973349 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Silent,Silent rs1969749 1 41973908 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Silent,Silent rs188401832 1 41975005 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Silent,Silent JHU_1.41975148 1 41975149 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Silent,Silent JHU_1.41975724 1 41975725 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Silent,Silent JHU_1.41976016 1 41976017 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Silent,Silent exm50127 1 41976132 [C/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P2403R,Missense_P2404R 1:41976217-GA 1 41976217 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P2375S,Missense_P2376S 1:41976237-GA 1 41976237 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_T2368M,Missense_T2369M exm50132 1 41976241 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2367W,Missense_R2368W 1:41976253-GA 1 41976253 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2363C,Missense_R2364C chr1_41976300 1 41976300 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P2347L,Missense_P2348L exm50148 1 41976422 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S2306R,Missense_S2307R 1:41976499-CT 1 41976499 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G2281S,Missense_G2282S 1:41976520-GA 1 41976520 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P2274S,Missense_P2275S 1:41976526-TC-T 1 41976526 [D/I] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON exm50155 1 41976529 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G2271R,Missense_G2272R 1:41976579-GA 1 41976579 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S2254L,Missense_S2255L exm50162 1 41976616 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2242C,Missense_R2243C exm50163 1 41976621 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2240Q,Missense_R2241Q exm50165 1 41976636 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2235Q,Missense_R2236Q exm50176 1 41976720 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G2207E,Missense_G2208E exm50178 1 41976727 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2205W,Missense_R2206W 1:41976831-CT 1 41976831 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2170Q,Missense_R2171Q exm50185 1 41976865 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A2159T,Missense_A2160T exm2251688 1 41976914 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Synonymous_P2142P,Synonymous_P2143P exm50188 1 41976928 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_E2138K,Missense_E2139K exm50193 1 41978498 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A2132T,Missense_A2132T exm50203 1 41978647 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2082Q,Missense_R2082Q 1:41978750-GA 1 41978750 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Nonsense_R2048X,Nonsense_R2048X exm50212 1 41978849 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V2015M,Missense_V2015M exm50215 1 41978890 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R2001Q,Missense_R2001Q exm50219 1 41978935 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S1986L,Missense_S1986L exm50221 1 41978953 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1980Q,Missense_P1980Q 1:41978985-CA 1 41978985 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_W1969C,Missense_W1969C exm50228 1 41979149 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G1915S,Missense_G1915S rs140035336 1 41979162 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Synonymous_T1910T,Synonymous_T1910T 1:41979163-GA 1 41979163 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_T1910M,Missense_T1910M 1:41979184-GA 1 41979184 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1903L,Missense_P1903L 1:41979221-GA 1 41979221 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R1891W,Missense_R1891W exm50241 1 41979283 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S1870T,Missense_S1870T 1:41979285-TCTC-T 1 41979285 [D/I] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON 1:41979334-GA 1 41979334 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S1853L,Missense_S1853L exm50244 1 41979337 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_D1852G,Missense_D1852G exm50247 1 41979388 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G1835E,Missense_G1835E rs146096913 1 41982252 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent exm50249 1 41984079 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_E1822K,Missense_E1822K 1:41984129-GA 1 41984129 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A1805V,Missense_A1805V rs79166646 1 41985941 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.41986430 1 41986431 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs941970 1 41990867 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent 1:41992307-G-C 1 41992307 [C/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.41992487 1 41992488 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent 1:41531514del110 1 41997186 [D/I] NM_001127714,NM_024503 HIVEP3,HIVEP3 JHU_1.42000601 1 42000602 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs638859 1 42001444 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs640688 1 42001831 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2475839 1 42006005 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42008076 1 42008077 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42010268 1 42010269 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2483693 1 42013018 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs1001925 1 42027561 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs1570359 1 42031065 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent 1:42035146-T-C 1 42035146 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs146476587 1 42035792 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42036038 1 42036039 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42038092 1 42038093 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent exm50261 1 42041242 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1727L,Missense_P1727L 1:42041278-GA 1 42041278 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1715L,Missense_P1715L exm50268 1 42041335 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1696L,Missense_P1696L rs80191481 1 42041484 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42041926 1 42041927 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent 1:42045427-CT 1 42045427 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R1681H,Missense_R1681H exm50270 1 42045432 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Synonymous_S1679S,Synonymous_S1679S exm50273 1 42045514 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R1652K,Missense_R1652K 1:42045556-TC 1 42045556 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_N1638S,Missense_N1638S exm1807028 1 42045574 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_I1632R,Missense_I1632R exm50275 1 42045587 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A1628T,Missense_A1628T exm50280 1 42045709 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_T1587M,Missense_T1587M 1:42045742-GA 1 42045742 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_T1576M,Missense_T1576M JHU_1.42045746 1 42045747 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Synonymous_S1574S,Synonymous_S1574S exm50285 1 42045770 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1567S,Missense_P1567S exm50287 1 42045818 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V1551M,Missense_V1551M exm50288 1 42045829 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_T1547N,Missense_T1547N 1:42046058-CA 1 42046058 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V1471F,Missense_V1471F 1:42046106-GCCT-G 1 42046106 [D/I] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON exm1807037 1 42046300 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A1390V,Missense_A1390V exm50303 1 42046331 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1380T,Missense_P1380T exm1807038 1 42046334 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G1379S,Missense_G1379S exm50308 1 42046372 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_T1366M,Missense_T1366M exm50309 1 42046408 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A1354V,Missense_A1354V chr1_42046642 1 42046642 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S1276F,Missense_S1276F exm50329 1 42046979 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S1164P,Missense_S1164P exm50344 1 42047208 [C/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_Q1087H,Missense_Q1087H exm50347 1 42047234 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P1079T,Missense_P1079T 1:42047288-CA 1 42047288 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V1061F,Missense_V1061F exm50350 1 42047300 [T/A] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S1057T,Missense_S1057T 1:42047569-CT 1 42047569 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R967H,Missense_R967H exm50376 1 42047846 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P875S,Missense_P875S 1:42047872-CT 1 42047872 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R866Q,Missense_R866Q exm50392 1 42048122 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G783S,Missense_G783S 1:42048230-GA 1 42048230 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_R747W,Missense_R747W 1:42048734-CA 1 42048734 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V579L,Missense_V579L exm50411 1 42048745 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_H575R,Missense_H575R chr1_42048781 1 42048781 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_F563C,Missense_F563C exm1807063 1 42048794 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_G559S,Missense_G559S 1:42048867-A-AG 1 42048867 [D/I] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON exm1807064 1 42048869 [C/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P534A,Missense_P534A chr1_42048884 1 42048884 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P529S,Missense_P529S exm50434 1 42049250 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P407T,Missense_P407T 1:42049415-GA 1 42049415 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_H352Y,Missense_H352Y 1:42049436-AG 1 42049436 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S345P,Missense_S345P exm1807075 1 42049603 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_S289N,Missense_S289N 1:42050000-GT 1 42050000 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_L157I,Missense_L157I exm50476 1 42050069 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V134M,Missense_V134M exm50477 1 42050090 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P127S,Missense_P127S exm50480 1 42050182 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_P96L,Missense_P96L 1:42050201-CT 1 42050201 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V90I,Missense_V90I 1:42050243-GT 1 42050243 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_Q76K,Missense_Q76K exm50483 1 42050248 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_T74M,Missense_T74M exm50490 1 42050342 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A43S,Missense_A43S rs2146315 1 42050366 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V35I,Missense_V35I exm50494 1 42050366 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_V35I,Missense_V35I exm50496 1 42050432 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Missense_A13T,Missense_A13T rs35219666 1 42052161 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs116484522 1 42052189 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs144602226 1 42053555 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42054781 1 42054782 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42058259 1 42058260 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs11210487 1 42059155 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs12731266 1 42062084 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs6600382 1 42062667 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs4578215 1 42063592 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs17363834 1 42076607 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs7515066 1 42076915 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42079230 1 42079231 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42079659 1 42079660 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs112147695 1 42079660 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42079866 1 42079867 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs7519983 1 42083369 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs1109255 1 42091708 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2038976 1 42094498 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 EXON Silent,Silent rs12034676 1 42097075 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs35608410 1 42097529 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs4083593 1 42099583 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent exm2251698 1 42105488 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs1409767 1 42106703 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs11210508 1 42106935 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs5010942 1 42107049 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs12070759 1 42108268 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs6700578 1 42112694 [A/T] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs7541348 1 42113215 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs79968212 1 42118173 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent kgp9738681 1 42118766 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs10890160 1 42120011 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs12745622 1 42120442 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs76450838 1 42123375 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42124310 1 42124311 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs943372 1 42133853 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs112648516 1 42134013 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs79724016 1 42137311 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs17372813 1 42139393 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs56044825 1 42140668 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs186868331 1 42140786 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent 1:42141202-G-T 1 42141202 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs17364300 1 42141252 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42142151 1 42142152 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs16828535 1 42142473 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs74071909 1 42142663 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs72669086 1 42152741 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs7518983 1 42153335 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs77456120 1 42153382 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs4660555 1 42155012 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs192563882 1 42157043 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs185145865 1 42159764 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs75929363 1 42161599 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs181365910 1 42163373 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs710246 1 42164227 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs12084384 1 42167594 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs182895447 1 42168290 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs76702803 1 42174807 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2077354 1 42180082 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs4526604 1 42182144 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42182302 1 42182303 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42188077 1 42188078 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs7518377 1 42193616 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs6685746 1 42202426 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent exm2268882 1 42202714 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs6663009 1 42205726 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs143807419 1 42208598 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42208851 1 42208852 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42211919 1 42211920 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs137921306 1 42217552 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2099757 1 42219601 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs113621182 1 42220672 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs12746339 1 42223133 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs147092436 1 42224749 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2165303 1 42228019 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs750193 1 42230109 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs6693668 1 42232085 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs79254366 1 42234199 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs6680824 1 42236004 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs1533184 1 42238233 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs765040 1 42239717 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs349429 1 42242941 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs402379 1 42247715 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42248563 1 42248564 [T/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42253205 1 42253206 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs78631441 1 42253444 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs2492604 1 42253788 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs400187 1 42255767 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs55999275 1 42256229 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42258114 1 42258115 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs11210529 1 42260474 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs10493098 1 42261889 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42264597 1 42264598 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs349454 1 42269458 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs150779636 1 42270385 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42272541 1 42272542 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42272628 1 42272629 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs647368 1 42274690 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs6670547 1 42280254 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs401869 1 42281302 [A/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42281402 1 42281403 [A/T] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs115646518 1 42285293 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs185130120 1 42286090 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs60074987 1 42286752 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs168382 1 42296145 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs12562508 1 42297236 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs41434744 1 42299640 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs681511 1 42301301 [G/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent JHU_1.42305169 1 42305170 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs78199000 1 42306687 [A/G] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs534583 1 42306759 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs187992760 1 42310334 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs115658520 1 42311026 [T/C] NM_001127714,NM_024503 HIVEP3,HIVEP3 Silent,Silent rs509814 1 42315945 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs6681556 1 42316691 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent JHU_1.42316690 1 42316691 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs72963221 1 42318062 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent JHU_1.42318061 1 42318062 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent 1:42321699-A-G 1 42321699 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs7526963 1 42326621 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs111817610 1 42329564 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs12734651 1 42330585 [A/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent JHU_1.42331338 1 42331339 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs2209737 1 42331760 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs783432 1 42335347 [A/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs58744058 1 42337570 [A/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent 1:42340855-A-T 1 42340855 [A/T] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent JHU_1.42347690 1 42347691 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs2993120 1 42350837 [A/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent JHU_1.42354110 1 42354111 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent JHU_1.42355121 1 42355122 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs7523641 1 42355482 [T/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs2764833 1 42356194 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent JHU_1.42357302 1 42357303 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs113158447 1 42358804 [A/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent JHU_1.42358821 1 42358822 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs76193152 1 42359024 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs1325502 1 42360270 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent JHU_1.42364176 1 42364177 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs783622 1 42366988 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs2764839 1 42368704 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs17366250 1 42369174 [T/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent JHU_1.42373262 1 42373263 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs1327386 1 42374344 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs72965229 1 42378124 [A/G] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs150897411 1 42381479 [T/C] NM_001127714,NM_024503,NR_038261,NR_038260 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent 1:42384545-G-C 1 42384545 [C/G] NR_038261 HIVEP3 Silent JHU_1.42386266 1 42386267 [T/G] NR_038261 HIVEP3 Silent rs12086766 1 42387990 [T/G] NR_038261 HIVEP3 Silent rs4660584 1 42390317 [T/C] NR_038261 HIVEP3 Silent rs80021278 1 42392891 [T/G] NR_038261 HIVEP3 Silent rs12089624 1 42395817 [T/C] NR_038261 HIVEP3 Silent rs61478790 1 42396155 [T/C] NR_038261 HIVEP3 Silent JHU_1.42400258 1 42400259 [A/G] NR_038261 HIVEP3 Silent JHU_1.42406343 1 42406344 [A/C] NR_038261 HIVEP3 Silent JHU_1.42406517 1 42406518 [A/G] NR_038261 HIVEP3 Silent rs6669753 1 42408905 [T/G] NR_038261 HIVEP3 Silent JHU_1.42408904 1 42408905 [T/G] NR_038261 HIVEP3 Silent rs78038796 1 42409770 [A/G] NR_038261 HIVEP3 Silent rs117529297 1 42424219 [T/C] NR_038261 HIVEP3 Silent rs653944 1 42424594 [A/G] NR_038261 HIVEP3 Silent rs6677053 1 42424713 [A/G] NR_038261 HIVEP3 Silent rs115188743 1 42425230 [T/C] NR_038261 HIVEP3 Silent JHU_1.42428564 1 42428565 [A/G] NR_038261 HIVEP3 Silent rs654961 1 42444975 [T/G] NR_038261 HIVEP3 Silent JHU_1.42452507 1 42452508 [A/C] NR_038261 HIVEP3 Silent rs76426555 1 42460161 [T/A] NR_038261 HIVEP3 Silent rs115973962 1 42460719 [T/C] NR_038261 HIVEP3 Silent rs75712162 1 42460973 [A/G] NR_038261 HIVEP3 Silent rs146765501 1 42462635 [T/C] NR_038261 HIVEP3 Silent rs168341 1 42467921 [A/G] NR_038261 HIVEP3 Silent rs58877046 1 42468400 [T/C] NR_038261 HIVEP3 Silent rs182364920 1 42468669 [T/C] NR_038261 HIVEP3 Silent rs75076981 1 42469233 [T/C] NR_038261 HIVEP3 Silent rs190004400 1 42469439 [A/G] NR_038261 HIVEP3 Silent JHU_1.42473801 1 42473802 [A/C] NR_038261 HIVEP3 Silent rs4660210 1 42476676 [T/C] NR_038261 HIVEP3 Silent JHU_1.42476753 1 42476754 [T/C] NR_038261 HIVEP3 Silent rs4660596 1 42484367 [T/G] NR_038261 HIVEP3 Silent rs6683904 1 42486843 [A/G] NR_038261 HIVEP3 Silent rs6689536 1 42487523 [T/C] NR_038261 HIVEP3 Silent JHU_1.42488622 1 42488623 [T/G] NR_038261 HIVEP3 Silent JHU_1.42491390 1 42491391 [T/C] NR_038261 HIVEP3 Silent JHU_1.42497388 1 42497389 [A/C] NR_038261 HIVEP3 Silent rs72672739 1 42501881 [T/G] rs138033929 1 42504523 [C/G] JHU_1.42511302 1 42511303 [G/C] rs72637924 1 42511750 [T/G] rs4660600 1 42513929 [A/G] rs117239196 1 42514696 [T/C] JHU_1.42522518 1 42522519 [A/T] JHU_1.42522715 1 42522716 [A/G] rs115786014 1 42523929 [A/G] rs6691697 1 42534375 [A/G] rs78247787 1 42534523 [A/G] JHU_1.42535594 1 42535595 [A/G] JHU_1.42543823 1 42543824 [A/G] rs10157817 1 42547061 [T/C] rs9943167 1 42551252 [A/G] rs117399871 1 42552815 [T/C] rs4660602 1 42555164 [A/G] rs12124991 1 42557003 [A/G] JHU_1.42561805 1 42561806 [A/G] rs116197142 1 42561806 [A/G] JHU_1.42562971 1 42562972 [T/C] rs7519321 1 42567280 [A/G] JHU_1.42568160 1 42568161 [A/C] JHU_1.42569455 1 42569456 [A/C] rs1016867 1 42570803 [A/G] 1:42571025-G-T 1 42571025 [T/G] rs1024909 1 42571439 [T/C] JHU_1.42573621 1 42573622 [T/C] JHU_1.42573631 1 42573632 [T/C] rs12096316 1 42575604 [A/C] 1:42110200_42110201ins 1 42575871 [D/I] JHU_1.42576580 1 42576581 [G/C] rs6672120 1 42577444 [T/C] JHU_1.42578582 1 42578583 [T/C] rs11210587 1 42580407 [A/G] rs11210589 1 42580578 [T/C] rs6697633 1 42582307 [A/G] rs114018193 1 42586432 [A/C] 1:42588099-C-T 1 42588099 [T/C] JHU_1.42591610 1 42591611 [T/G] JHU_1.42597932 1 42597933 [A/G] rs7542228 1 42598964 [A/G] rs148492768 1 42603474 [T/C] JHU_1.42607150 1 42607151 [T/C] rs183388160 1 42608599 [A/G] rs141392891 1 42609392 [A/G] rs77785260 1 42609521 [A/G] rs143676684 1 42612899 [A/T] JHU_1.42613281 1 42613282 [A/G] rs12069432 1 42618740 [A/G] 1:42619209-CA 1 42619209 [A/C] NM_007102 GUCA2B EXON Missense_Q30K 1:42620424-CA 1 42620424 [A/C] NM_007102 GUCA2B EXON Missense_P55H 1:42620453-GA 1 42620453 [A/G] NM_007102 GUCA2B EXON Missense_A65T exm50511 1 42620492 [T/C] NM_007102 GUCA2B EXON Missense_P78S rs192281015 1 42620847 [T/C] NM_007102 GUCA2B Silent rs80206942 1 42621170 [C/G] NM_007102 GUCA2B Silent rs2274919 1 42621325 [T/C] NM_007102 GUCA2B EXON Silent rs3818727 1 42621645 [A/G] JHU_1.42622941 1 42622942 [A/G] exm50531 1 42628591 [A/T] NM_033553 GUCA2A EXON Missense_C112S exm50534 1 42628615 [A/G] NM_033553 GUCA2A EXON Missense_C104R exm50537 1 42629092 [A/C] NM_033553 GUCA2A EXON Nonsense_E89X exm50539 1 42629099 [T/A] NM_033553 GUCA2A EXON Missense_N86K 1:42629126-GTTC-G 1 42629126 [I/D] NM_033553 GUCA2A EXON exm50544 1 42629176 [T/C] NM_033553 GUCA2A EXON Missense_G61S exm1810585 1 42629184 [C/G] NM_033553 GUCA2A EXON Missense_P58R exm50551 1 42630341 [A/G] NM_033553 GUCA2A EXON Missense_W15R exm50554 1 42630364 [A/G] NM_033553 GUCA2A EXON Missense_S7F exm1810588 1 42630367 [A/G] NM_033553 GUCA2A EXON Missense_L6P 1:42631741-A-G 1 42631741 [A/G] JHU_1.42632075 1 42632076 [T/C] rs28970879 1 42632302 [A/G] rs16829155 1 42635862 [A/G] JHU_1.42636191 1 42636192 [T/C] rs150777469 1 42636506 [T/A] rs372720279 1 42637051 [A/G] JHU_1.42638129 1 42638130 [T/A] rs12045477 1 42638163 [T/C] rs116863473 1 42642197 [A/G] rs117448662 1 42642922 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Silent,Silent,Silent,Silent rs686247 1 42644770 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Silent,Silent,Silent,Silent exm50557 1 42645389 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_I621V,Missense_I587V,Missense_I621V,Missense_I621V JHU_1.42646081 1 42646082 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent 1:42647586-AT 1 42647586 [A/T] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent 1:42647680-TC 1 42647680 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_D554G,Missense_D520G,Missense_D554G,Missense_D554G rs72963048 1 42652958 [T/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent 1:42654452-TC 1 42654452 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_H534R,Missense_H500R,Missense_H534R,Missense_H534R chr1_42657150 1 42657150 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_Q392R,Missense_Q358R,Missense_Q392R,Missense_Q392R exm50585 1 42657196 [T/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_T377P,Missense_T343P,Missense_T377P,Missense_T377P exm50587 1 42657223 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_V368I,Missense_V334I,Missense_V368I,Missense_V368I exm50590 1 42657270 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_S352N,Missense_S318N,Missense_S352N,Missense_S352N exm50593 1 42657333 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_Q331R,Missense_Q297R,Missense_Q331R,Missense_Q331R chr1_42657379 1 42657379 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_I316V,Missense_I282V,Missense_I316V,Missense_I316V rs12409416 1 42658445 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs118143348 1 42660190 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent exm50599 1 42660679 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_Q272H,Missense_Q238H,Missense_Q272H,Missense_Q272H exm50600 1 42660684 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_P271S,Missense_P237S,Missense_P271S,Missense_P271S rs182675510 1 42664151 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent exm50608 1 42671431 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent newrs148054297 1 42671432 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent 1:42671453-TC 1 42671453 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_I204V,Silent,Missense_I204V,Missense_I204V exm1810615 1 42671481 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_I194M,Silent,Missense_I194M,Missense_I194M rs117713628 1 42672160 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs76410912 1 42676792 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent JHU_1.42683552 1 42683553 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent exm50616 1 42693597 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_V162A,Missense_V162A,Missense_V162A,Missense_V162A rs343376 1 42693597 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_V162A,Missense_V162A,Missense_V162A,Missense_V162A JHU_1.42701821 1 42701822 [C/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs72637928 1 42702164 [A/T] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs608277 1 42702344 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs76291591 1 42704548 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent JHU_1.42708229 1 42708230 [T/A] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent JHU_1.42708904 1 42708905 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs115798440 1 42723108 [T/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs510157 1 42727950 [T/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent newrs145616593 1 42730809 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Nonsense_R141X,Nonsense_R141X,Nonsense_R141X,Nonsense_R141X JHU_1.42739366 1 42739367 [A/T] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent variant.2762 1 42744014 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent exm2251739 1 42744214 [T/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Synonymous_A58A,Synonymous_A58A,Synonymous_A58A,Synonymous_A58A rs3754280 1 42748731 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs115623881 1 42754152 [A/T] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent JHU_1.42756774 1 42756775 [A/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs10736423 1 42768969 [T/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent JHU_1.42793544 1 42793545 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs76825575 1 42793661 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs1566584 1 42797765 [A/G] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs61775147 1 42799040 [T/C] NM_014947,NM_001198852,NM_001198851,NM_001198850 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent JHU_1.42801474 1 42801475 [A/G] NM_001198850 FOXJ3 EXON Silent JHU_1.42804931 1 42804932 [A/G] JHU_1.42805159 1 42805160 [A/G] JHU_1.42805173 1 42805174 [A/G] JHU_1.42805298 1 42805299 [A/G] JHU_1.42805602 1 42805603 [A/G] rs913426 1 42806191 [A/G] rs75753120 1 42808197 [A/G] JHU_1.42812221 1 42812222 [T/C] rs78411500 1 42812222 [T/C] rs117360435 1 42813555 [A/G] rs2494359 1 42815159 [G/C] rs148171064 1 42818249 [T/C] rs1536651 1 42823768 [A/G] rs10493106 1 42824018 [A/G] rs72676425 1 42826632 [A/G] JHU_1.42827834 1 42827835 [A/C] JHU_1.42834811 1 42834812 [A/G] JHU_1.42834883 1 42834884 [A/T] rs6679533 1 42835396 [T/C] rs75571495 1 42840862 [A/G] JHU_1.42843389 1 42843390 [T/A] rs60490565 1 42844342 [T/A] rs76269892 1 42844896 [T/C] JHU_1.42845299 1 42845300 [T/C] JHU_1.42846965 1 42846966 [G/C] NM_173642 RIMKLA Silent JHU_1.42850327 1 42850328 [A/T] NM_173642 RIMKLA Silent 1:42855548-A-G 1 42855548 [A/G] NM_173642 RIMKLA Silent rs12119170 1 42856160 [T/C] NM_173642 RIMKLA Silent rs12088350 1 42857159 [A/G] NM_173642 RIMKLA Silent rs4660630 1 42864868 [T/C] NM_173642 RIMKLA Silent exm50639 1 42865200 [T/C] NM_173642 RIMKLA EXON Missense_R97W JHU_1.42866094 1 42866095 [C/G] NM_173642 RIMKLA Silent JHU_1.42867509 1 42867510 [A/T] NM_173642 RIMKLA Silent rs35665433 1 42867960 [A/G] NM_173642 RIMKLA Silent exm50644 1 42870265 [T/C] NM_173642 RIMKLA EXON Missense_R160W JHU_1.42870734 1 42870735 [A/C] NM_173642 RIMKLA Silent chr1_42875766 1 42875766 [A/G] NM_173642 RIMKLA EXON Missense_K198R variant.2763 1 42875858 [A/G] NM_173642 RIMKLA EXON Missense_G229S rs7413966 1 42876423 [A/G] NM_173642 RIMKLA Silent rs7418303 1 42876696 [T/C] NM_173642 RIMKLA Silent 1:42880166-GA 1 42880166 [A/G] NM_173642 RIMKLA EXON Missense_V233I exm50657 1 42880442 [A/G] NM_173642 RIMKLA EXON Missense_E325K rs1055055 1 42880516 [T/C] NM_173642 RIMKLA EXON Synonymous_S349S exm-rs1055055 1 42880516 [T/C] NM_173642 RIMKLA EXON Synonymous_S349S 1:42880585-GA 1 42880585 [A/G] NM_173642 RIMKLA EXON Missense_M372I JHU_1.42881763 1 42881764 [G/C] NM_173642 RIMKLA EXON Silent rs6694180 1 42882116 [T/G] NM_173642 RIMKLA EXON Silent rs4660632 1 42882296 [A/C] NM_173642 RIMKLA EXON Silent rs117509997 1 42883195 [C/G] NM_173642 RIMKLA EXON Silent rs118082892 1 42885537 [A/G] NM_173642 RIMKLA EXON Silent JHU_1.42888426 1 42888427 [T/C] NM_173642 RIMKLA EXON Silent JHU_1.42889168 1 42889169 [T/G] NM_173642 RIMKLA EXON Silent rs12138050 1 42889846 [A/C] NM_173642 RIMKLA EXON Silent 1:42893164-G-A 1 42893164 [A/G] JHU_1.42895164 1 42895165 [A/G] rs12027322 1 42895444 [T/G] exm50670 1 42896441 [A/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_S245I,Missense_S355I rs74068434 1 42898334 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent exm50675 1 42898836 [T/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_Y208S,Missense_Y318S exm50676 1 42898843 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_F206L,Missense_F316L exm50678 1 42898854 [T/A] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_I202N,Missense_I312N 1:42898905-CT 1 42898905 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_R185Q,Missense_R295Q exm50680 1 42898933 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_R176C,Missense_R286C rs17378839 1 42899893 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent JHU_1.42899892 1 42899893 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent rs138470310 1 42900883 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent rs3748845 1 42901082 [A/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent variant.2766 1 42902087 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent exm50689 1 42902142 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_I113V,Missense_I223V rs10890196 1 42902866 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent rs7529199 1 42904304 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent exm50692 1 42905547 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_R82C,Missense_R192C 1:42905619-TC 1 42905619 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_N58D,Missense_N168D 1:42905636-TC 1 42905636 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_K52R,Missense_K162R rs10493107 1 42909342 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent rs1002701 1 42913695 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent var_1_42914133 1 42914133 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent rs17379130 1 42914988 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent exm50704 1 42915660 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_A8V,Missense_R61C rs16829544 1 42915764 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent rs17379185 1 42915973 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent rs12039696 1 42918754 [A/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent JHU_1.42920372 1 42920373 [A/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent 1:42921641-GA 1 42921641 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Silent,Missense_P10S rs74068443 1 42922002 [T/A] NM_001355226 CCDC30 EXON Silent 1:42922252-CT 1 42922252 [T/C] NM_001355226,NM_001287507,NM_001287506,NM_001287511,NM_001287508,NM_024664,NM_001287510,NM_001287509,NM_001077447 CCDC30,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS EXON Silent,Silent,Silent,Missense_P6S,Silent,Missense_P6S,Silent,Silent,Silent 1:42922280-GA 1 42922280 [A/G] NM_001355226,NM_001287507,NM_001287506,NM_001287511,NM_001287508,NM_024664,NM_001287510,NM_001287509,NM_001077447 CCDC30,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS EXON Silent,Silent,Silent,Missense_G15D,Silent,Missense_G15D,Silent,Silent,Silent 1:42922346-TG 1 42922346 [T/G] NM_001355226,NM_001287507,NM_001287506,NM_001287511,NM_001287508,NM_024664,NM_001287510,NM_001287509,NM_001077447 CCDC30,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS EXON Silent,Silent,Silent,Missense_V37G,Silent,Missense_V37G,Silent,Silent,Silent 1:42922363-GT 1 42922363 [T/G] NM_001355226,NM_001287507,NM_001287506,NM_001287511,NM_001287508,NM_024664,NM_001287510,NM_001287509,NM_001077447 CCDC30,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS EXON Silent,Silent,Silent,Missense_G43C,Silent,Missense_G43C,Silent,Silent,Silent 1:42922946-GA 1 42922946 [A/G] NM_001355226,NM_001287507,NM_001287506,NM_001287511,NM_001287508,NM_024664,NM_001287510,NM_001287509,NM_001077447 CCDC30,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS EXON Silent,Silent,Synonymous_A6A,Synonymous_A179A,Synonymous_A6A,Synonymous_A179A,Synonymous_A6A,Synonymous_A6A,Synonymous_A6A Variant12370 1 42922958 [I/D] NM_001355226,NM_001287507,NM_001287506,NM_001287511,NM_001287508,NM_024664,NM_001287510,NM_001287509,NM_001077447 CCDC30,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS EXON variant.2769 1 42925448 [T/C] NM_001355226,NM_001287507,NM_001287506,NM_001287511,NM_001287508,NM_024664,NM_001287510,NM_001287509,NM_001077447 CCDC30,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS EXON Silent,Nonsense_R57X,Nonsense_R90X,Silent,Nonsense_R90X,Nonsense_R263X,Nonsense_R90X,Nonsense_R90X,Nonsense_R90X exm50749 1 42925453 [C/G] NM_001355226,NM_001287507,NM_001287506,NM_001287511,NM_001287508,NM_024664,NM_001287510,NM_001287509,NM_001077447 CCDC30,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS EXON Silent,Missense_Q58H,Missense_Q91H,Silent,Missense_Q91H,Missense_Q264H,Missense_Q91H,Missense_Q91H,Missense_Q91H 1:42925515-TC 1 42925515 [T/C] NM_001355226,NM_001287507,NM_001287506,NM_001287511,NM_001287508,NM_024664,NM_001287510,NM_001287509,NM_001077447 CCDC30,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS,PPCS EXON Silent,Missense_I79T,Missense_I112T,Silent,Missense_I112T,Missense_I285T,Missense_I112T,Missense_I112T,Missense_I112T rs12121532 1 42933906 [T/C] NM_001355226,NM_001287511,NM_001355224,NM_001355227 CCDC30,PPCS,CCDC30,CCDC30 Silent,Silent,Silent,Silent JHU_1.42942763 1 42942764 [T/C] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent JHU_1.42948238 1 42948239 [T/C] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent JHU_1.42949377 1 42949378 [A/C] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent JHU_1.42949803 1 42949804 [A/T] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent rs191949329 1 42950439 [T/G] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent rs17379506 1 42955174 [A/G] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent JHU_1.42961821 1 42961822 [A/G] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent rs76140023 1 42963136 [A/G] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent JHU_1.42968317 1 42968318 [A/G] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent rs6664054 1 42968881 [A/G] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent rs11210656 1 42975123 [A/G] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent rs116216587 1 42977075 [T/C] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent rs190550409 1 42994339 [T/C] NM_001355226,NM_001355224,NM_001355227 CCDC30,CCDC30,CCDC30 Silent,Silent,Silent JHU_1.43001404 1 43001405 [A/T] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent Variant12371 1 43002200 [D/I] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON variant.2771 1 43002272 [T/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_E39D rs79239133 1 43004173 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent exm50763 1 43004873 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_I49M indel.2772 1 43004895 [I/D] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON exm50769 1 43004958 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_E78K exm50770 1 43004982 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs11581983 1 43010473 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent variant.2774 1 43011225 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Nonsense_R134X rs117108529 1 43015419 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs12035932 1 43019135 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs16829690 1 43020694 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent indel.2775 1 43021828 [D/I] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON exm50781 1 43021838 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_G146E 1:43021882-GA 1 43021882 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_G161S rs11210669 1 43024213 [T/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs4660646 1 43029788 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent variant.2776 1 43031965 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent 1:43032079-GA 1 43032079 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_R263Q 1:43032115-AG 1 43032115 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_H275R 1:43032136-AG 1 43032136 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Missense_E282G JHU_1.43033624 1 43033625 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs116636372 1 43041475 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs2762697 1 43042125 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent exm50802 1 43042767 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_Y9C,Missense_Y9C,Missense_Y9C,Missense_Y311C variant.2777 1 43042900 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Synonymous_K53K,Synonymous_K53K,Synonymous_K53K,Synonymous_K355K JHU_1.43045621 1 43045622 [A/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs1016544 1 43045757 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent 1:43047142-GA 1 43047142 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_E91K,Missense_E91K,Missense_E91K,Missense_E393K rs34867691 1 43050228 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs2809658 1 43050396 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent JHU_1.43054258 1 43054259 [T/A] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent 1:43055011-GA 1 43055011 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_V112I,Missense_V112I,Missense_V112I,Missense_V414I exm50811 1 43055036 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_R120K,Missense_R120K,Missense_R120K,Missense_R422K rs373942783 1 43058916 [T/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent 1:43059829-T-G 1 43059829 [T/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs12025456 1 43073504 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs6600414 1 43075687 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent JHU_1.43076883 1 43076884 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs72959648 1 43077186 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs72637939 1 43078522 [A/T] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs12081092 1 43081293 [A/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent JHU_1.43086070 1 43086071 [A/T] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs79068942 1 43086583 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs149056665 1 43097185 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs6600418 1 43101562 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent exm50825 1 43102970 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_T218I,Missense_T218I,Missense_T218I,Missense_T520I exm50826 1 43102987 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Nonsense_R224X,Nonsense_R224X,Nonsense_R224X,Nonsense_R526X 1:43103035-CA 1 43103035 [A/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_H240N,Missense_H240N,Missense_H240N,Missense_H542N JHU_1.43103855 1 43103856 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs1951918 1 43104952 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent exm50830 1 43108172 [A/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_A254D,Missense_A254D,Missense_A254D,Missense_A556D 1:43108259-CT 1 43108259 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_T283M,Missense_T283M,Missense_T283M,Missense_T585M rs7523056 1 43110276 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent exm50837 1 43110409 [A/T] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_S305R,Missense_S305R,Missense_S305R,Missense_S607R 1:43110468-GA 1 43110468 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_R325H,Missense_R325H,Missense_R325H,Missense_R627H exm50843 1 43111889 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_I356M,Missense_I356M,Missense_I356M,Missense_I658M JHU_1.43112777 1 43112778 [T/A] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent rs11210691 1 43118882 [T/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 Silent,Silent,Silent,Silent 1:43119054-CA 1 43119054 [A/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_T392K,Missense_T392K,Missense_T392K,Missense_T694K 1:43119077-GA 1 43119077 [A/G] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_E400K,Missense_E400K,Missense_E400K,Missense_E702K newrs147914563 1 43119487 [A/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Silent,Silent,Silent,Silent variant.2782 1 43119529 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Nonsense_Q426X,Nonsense_Q426X,Silent,Nonsense_Q728X rs138133896 1 43119603 [T/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Synonymous_L450L,Synonymous_L450L,Silent,Synonymous_L752L exm50855 1 43119661 [A/C] NM_001355226,NM_001355224,NM_001355227,NM_001080850 CCDC30,CCDC30,CCDC30,CCDC30 EXON Missense_H470N,Missense_H470N,Silent,Missense_H772N rs141190901 1 43121267 [A/G] rs72969208 1 43123030 [T/C] rs12145700 1 43123855 [T/C] 1:43125174-CTCTT-C 1 43125174 [D/I] NM_001330510,NM_006347 PPIH,PPIH variant.2786 1 43125238 [T/G] NM_001330510,NM_006347 PPIH,PPIH Silent,Silent rs137885159 1 43126745 [A/G] NM_001330510,NM_006347 PPIH,PPIH Silent,Silent exm50878 1 43131694 [T/C] NM_001330510,NM_006347 PPIH,PPIH EXON Missense_T84I,Missense_T127I exm50879 1 43132241 [A/G] NM_001330510,NM_006347 PPIH,PPIH EXON Missense_V107M,Missense_V150M exm50880 1 43132254 [T/C] NM_001330510,NM_006347 PPIH,PPIH EXON Missense_I111T,Missense_I154T rs114599574 1 43134073 [T/C] NM_001330510,NM_006347 PPIH,PPIH Silent,Silent JHU_1.43135239 1 43135240 [G/C] NM_001330510,NM_006347 PPIH,PPIH Silent,Silent JHU_1.43140492 1 43140493 [T/C] NM_001330510,NM_006347 PPIH,PPIH Silent,Silent rs912074 1 43144021 [T/C] rs12097433 1 43144482 [T/C] indel.2790 1 43149024 [I/D] NM_004559,NR_132737 YBX1,YBX1 EXON 1:43149028-GT 1 43149028 [T/G] NM_004559,NR_132737 YBX1,YBX1 EXON Silent,Silent rs11210696 1 43155062 [T/G] NM_004559,NR_132737 YBX1,YBX1 Silent,Silent rs10493113 1 43158510 [T/C] NM_004559,NR_132737 YBX1,YBX1 Silent,Silent rs41269507 1 43159338 [A/G] NM_004559,NR_132737 YBX1,YBX1 Silent,Silent exm2251751 1 43162318 [A/G] NM_004559,NR_132737 YBX1,YBX1 EXON Synonymous_A120A,Silent exm50905 1 43162873 [T/G] NM_004559,NR_132737 YBX1,YBX1 EXON Missense_G227V,Silent rs78661314 1 43163738 [T/C] NM_004559,NR_132737 YBX1,YBX1 Silent,Silent JHU_1.43166283 1 43166284 [C/G] NM_004559,NR_132737 YBX1,YBX1 Silent,Silent JHU_1.43167208 1 43167209 [T/G] NM_004559,NR_132737 YBX1,YBX1 Silent,Silent JHU_1.43169032 1 43169033 [T/C] NM_004559,NR_132737 YBX1,YBX1 EXON Silent,Silent JHU_1.43169205 1 43169206 [A/G] NM_004559,NR_132737 YBX1,YBX1 EXON Silent,Silent JHU_1.43176538 1 43176539 [T/A] JHU_1.43181918 1 43181919 [T/C] JHU_1.43195884 1 43195885 [A/G] JHU_1.43196955 1 43196956 [T/G] rs4660657 1 43197566 [A/C] exm50929 1 43200774 [A/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_G220C,Silent,Silent 1:43200780-CT 1 43200780 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_A218T,Silent,Silent exm50931 1 43200786 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_A216T,Silent,Silent rs74885359 1 43200855 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Silent,Silent,Silent rs12141833 1 43201216 [A/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Silent,Silent,Silent 1:43201452-CA 1 43201452 [A/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Silent,Silent,Missense_W213L 1:43201522-GA 1 43201522 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Silent,Silent,Missense_P190S 1:43201528-GA 1 43201528 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Silent,Silent,Missense_P188S exm50936 1 43201534 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Silent,Silent,Missense_R186C 1:43201558-GA 1 43201558 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_A206V,Missense_A206V,Synonymous_L178L exm50938 1 43201576 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_R200Q,Missense_R200Q,Missense_G172S exm50939 1 43201614 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Synonymous_P187P,Synonymous_P187P,Missense_R159Q 1:43201641-GA 1 43201641 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Synonymous_G178G,Synonymous_G178G,Missense_A150V 1:43201646-GT 1 43201646 [T/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_L177M,Missense_L177M,Nonsense_C148X 1:43201672-CT 1 43201672 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_G168D,Missense_G168D,Missense_A140T rs7548008 1 43202095 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 Silent,Silent,Silent rs11210708 1 43202374 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 Silent,Silent,Silent rs10890212 1 43202636 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 Silent,Silent,Silent Variant15890 1 43203967 [I/D] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Variant48303 1 43204116 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_G122R,Missense_G122R,Missense_G122R 1:43204131-GA 1 43204131 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_R117C,Missense_R117C,Missense_R117C 1:43204163-CT 1 43204163 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_R106Q,Missense_R106Q,Missense_R106Q rs200640147 1 43204166 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_T105M,Missense_T105M,Missense_T105M exm50951 1 43204203 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_V93M,Missense_V93M,Missense_V93M exm50954 1 43204251 [T/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_I77V,Missense_I77V,Missense_I77V 1:43205124-C-G 1 43205124 [G/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 Silent,Silent,Silent 1:43205566-C-G 1 43205566 [C/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_Q57E,Missense_Q57E,Missense_Q57E seq-rs387907418 1 43205582 [A/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_W51C,Missense_W51C,Missense_W51C Variant48306 1 43205613 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_I41T,Missense_I41T,Missense_I41T Variant48307 1 43205652 [A/G] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_P28L,Missense_P28L,Missense_P28L 1:43205659-CA 1 43205659 [A/C] NM_148960,NM_001123395,NM_001185117 CLDN19,CLDN19,CLDN19 EXON Missense_A26S,Missense_A26S,Missense_A26S rs10890213 1 43209566 [A/C] 1:43212424-CA 1 43212424 [A/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Silent,Silent,Nonsense_E719X ilmnseq_rs533729683 1 43212427 [C/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Silent,Silent,Missense_P718A 1:43212613-GT 1 43212613 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Silent,Missense_N795K,Silent 1:43212750-CT 1 43212750 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Silent,Missense_G750R,Silent 1:43212831-CT 1 43212831 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Silent,Missense_E723K,Silent 1:43212873-CA 1 43212873 [A/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Silent,Missense_A709S,Silent exm50983 1 43212926 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_A691V,Missense_A691V,Silent rs202209556 1 43212966 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_L678M,Missense_L678M,Missense_L678M rs192750565 1 43212981 [A/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_A673S,Missense_A673S,Missense_A673S exm50990 1 43213035 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_T655A,Missense_T655A,Missense_T655A 1:43213037-CA 1 43213037 [A/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_G654V,Missense_G654V,Missense_G654V exm50991 1 43213068 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_Q644K,Missense_Q644K,Missense_Q644K 1:43213468-CT 1 43213468 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_A614T,Missense_A614T,Missense_A614T rs7552138 1 43213610 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent rs45549742 1 43213674 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent rs144336336 1 43213903 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_K602N,Missense_K602N,Missense_K602N exm51004 1 43213903 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_K602N,Missense_K602N,Missense_K602N exm51005 1 43213914 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_V599M,Missense_V599M,Missense_V599M JHU_1.43214829 1 43214830 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent 1:43215871-CT 1 43215871 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R569H,Missense_R569H,Missense_R569H exm51012 1 43215917 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R554C,Missense_R554C,Missense_R554C exm51014 1 43215930 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_M549I,Missense_M549I,Missense_M549I exm51016 1 43215952 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_T542M,Missense_T542M,Missense_T542M 1:43215976-CT 1 43215976 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_S534N,Missense_S534N,Missense_S534N 1:43217477-GA 1 43217477 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent variant.2800 1 43217944 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent exm51022 1 43217985 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_N510S,Missense_N510S,Missense_N510S exm51024 1 43218010 [C/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_G502R,Missense_G502R,Missense_G502R rs139259804 1 43218010 [C/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_G502R,Missense_G502R,Missense_G502R exm51025 1 43218013 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R501W,Missense_R501W,Missense_R501W rs201977455 1 43218037 [G/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_A493P,Missense_A493P,Missense_A493P newrs114044880 1 43218203 [A/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent exm51040 1 43220563 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_D441G,Missense_D441G,Missense_D441G ilmnseq_rs113593896 1 43220563 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_D441G,Missense_D441G,Missense_D441G exm51047 1 43220642 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_V415I,Missense_V415I,Missense_V415I 1:43220654-GA 1 43220654 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R411W,Missense_R411W,Missense_R411W exm51052 1 43220851 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_L403S,Missense_L403S,Missense_L403S rs77656028 1 43221118 [C/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent JHU_1.43221186 1 43221187 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent seq-rs786205443 1 43221210 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent rs118203996 1 43221287 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Nonsense_R368X,Nonsense_R368X,Nonsense_R368X 1:43221292-CT 1 43221292 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R366Q,Missense_R366Q,Missense_R366Q 1:43221294-GC 1 43221294 [G/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Nonsense_Y365X,Nonsense_Y365X,Nonsense_Y365X exm51058 1 43221302 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_K363E,Missense_K363E,Missense_K363E rs72659351 1 43223453 [A/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent exm51061 1 43223453 [A/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent exm51065 1 43223489 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_G349R,Missense_G349R,Missense_G349R 1:43223573-CT 1 43223573 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_V321I,Missense_V321I,Missense_V321I rs72956932 1 43223645 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent Variant48312 1 43224915 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Nonsense_Y255X,Nonsense_Y255X,Nonsense_Y255X 1:43224923-CT 1 43224923 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_D253N,Missense_D253N,Missense_D253N rs201475941 1 43224923 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_D253N,Missense_D253N,Missense_D253N Variant15891 1 43224933 [D/I] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON exm51079 1 43224953 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R243C,Missense_R243C,Missense_R243C rs146982397 1 43224953 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R243C,Missense_R243C,Missense_R243C exm51086 1 43225039 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_R214Q,Missense_R214Q,Missense_R214Q Variant48313 1 43225040 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Nonsense_R214X,Nonsense_R214X,Nonsense_R214X rs200899260 1 43225040 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Nonsense_R214X,Nonsense_R214X,Nonsense_R214X Variant48314 1 43225052 [A/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Nonsense_R210X,Nonsense_R210X,Nonsense_R210X JHU_1.43227139 1 43227140 [A/T] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent exm51093 1 43228001 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_P204H,Missense_P204H,Missense_P204H rs77208721 1 43228001 [T/G] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_P204H,Missense_P204H,Missense_P204H rs2816594 1 43230559 [T/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 Silent,Silent,Silent Variant15892 1 43232411 [D/I] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON exm51108 1 43232504 [A/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_A47S,Missense_A47S,Missense_A47S exm1811184 1 43232562 [G/C] NM_001146289,NM_001243246,NM_022356 P3H1,P3H1,P3H1 EXON Missense_E27D,Missense_E27D,Missense_E27D 1:43233013-GT 1 43233013 [T/G] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Nonsense_E11X JHU_1.43234242 1 43234243 [A/T] NR_040733,NM_024097 C1orf50,C1orf50 Silent,Silent JHU_1.43234421 1 43234422 [A/G] NR_040733,NM_024097 C1orf50,C1orf50 Silent,Silent rs2760073 1 43234422 [A/G] NR_040733,NM_024097 C1orf50,C1orf50 Silent,Silent JHU_1.43236692 1 43236693 [A/G] NR_040733,NM_024097 C1orf50,C1orf50 Silent,Silent rs17385526 1 43238031 [A/G] NR_040733,NM_024097 C1orf50,C1orf50 Silent,Silent exm51127 1 43239249 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Nonsense_R71X exm51128 1 43239274 [A/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_T79K 1:43240436-AG 1 43240436 [A/G] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_N104S exm51132 1 43240460 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_I112T exm51138 1 43240901 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_H146Y 1:43240947-CT 1 43240947 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_T161I exm51140 1 43240962 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_I166T exm51143 1 43240998 [T/C] NR_040733,NM_024097 C1orf50,C1orf50 EXON Silent,Missense_T178M JHU_1.43241455 1 43241456 [A/T] JHU_1.43241581 1 43241582 [A/C] JHU_1.43244661 1 43244662 [A/C] NR_133055 LOC105378683 Silent rs1570431 1 43245324 [A/G] NR_133055 LOC105378683 Silent rs1570433 1 43245536 [T/C] NR_133055 LOC105378683 Silent JHU_1.43245777 1 43245778 [T/G] NR_133055 LOC105378683 Silent JHU_1.43248042 1 43248043 [A/G] NR_133055 LOC105378683 Silent rs719676 1 43254108 [A/G] NM_001354602 TMEM269 Silent 1:43255567-GA 1 43255567 [A/G] NM_001354602 TMEM269 EXON Missense_M43I 1:43260131-AG 1 43260131 [A/G] NM_001354602 TMEM269 EXON Missense_I153V 1:43260179-TC 1 43260179 [T/C] NM_001354602 TMEM269 EXON Missense_C169R JHU_1.43260443 1 43260444 [A/G] NM_001354602 TMEM269 Silent rs7547717 1 43261781 [T/G] NM_001354602 TMEM269 Silent 1:43263518-TG 1 43263518 [T/G] NM_001354602 TMEM269 Silent 1KG_1_43263770 1 43263770 [D/I] NM_001354602 TMEM269 EXON 1:43263771-TG-T 1 43263771 [D/I] NM_001354602 TMEM269 EXON JHU_1.43263781 1 43263782 [A/G] NM_001354602 TMEM269 EXON Synonymous_L208L chr1_43263805 1 43263805 [T/C] NM_001354602 TMEM269 EXON Missense_S216F rs17381650 1 43264256 [T/C] NM_001354602 TMEM269 EXON Silent rs72661380 1 43266163 [T/C] NM_001354602 TMEM269 EXON Silent rs323719 1 43270928 [A/G] rs323720 1 43271033 [T/C] rs11210721 1 43272246 [T/C] variant.2813 1 43273061 [T/C] NM_199342 SVBP EXON Silent rs77500743 1 43275593 [A/G] NM_199342 SVBP Silent rs1108734 1 43278242 [T/C] NM_199342 SVBP Silent exm51154 1 43282121 [T/C] NM_199342 SVBP EXON Missense_K32R exm51155 1 43282125 [C/G] NM_199342 SVBP EXON Missense_L31V JHU_1.43283043 1 43283044 [T/C] NM_199342,NM_001017922 SVBP,ERMAP EXON Silent,Silent rs6658712 1 43285544 [T/C] NM_001017922 ERMAP Silent rs12065700 1 43286387 [T/C] NM_001017922 ERMAP Silent rs12126596 1 43290037 [T/C] NM_001017922 ERMAP Silent rs6600425 1 43290499 [T/C] NM_001017922 ERMAP Silent rs34102447 1 43291061 [A/T] NM_001017922 ERMAP Silent rs35572814 1 43291486 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34062962 1 43291923 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs6658001 1 43292806 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35531445 1 43293648 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34935860 1 43295066 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35568889 1 43295818 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent 1:43296118-GA 1 43296118 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Silent,Silent exm51160 1 43296130 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_A4V,Missense_A4V rs33950227 1 43296173 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_L18L,Synonymous_L18L exm51163 1 43296183 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R22W,Missense_R22W exm51165 1 43296195 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_H26Y,Missense_H26Y rs12727498 1 43296354 [T/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent exm51168 1 43296456 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_G35S,Missense_G35S 1:43296489-GT 1 43296489 [T/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_A46S,Missense_A46S 1:43296492-GA 1 43296492 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_E47K,Missense_E47K exm51172 1 43296522 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_G57R,Missense_G57R 1:43296526-CT 1 43296526 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_T58M,Missense_T58M 1:43296531-C-G 1 43296531 [C/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_P60A,Missense_P60A 1:43296570-CT 1 43296570 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R73C,Missense_R73C rs33954154 1 43296572 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_R73R,Synonymous_R73R 1:43296588-AG 1 43296588 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_I79V,Missense_I79V exm51179 1 43296594 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R81W,Missense_R81W 1:43296706-TC 1 43296706 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_L118P,Missense_L118P 1:43296765-AG 1 43296765 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_T138A,Missense_T138A rs17386017 1 43297082 [T/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34589017 1 43297665 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34721801 1 43297779 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35837615 1 43298363 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35423593 1 43298460 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs4660671 1 43298871 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent JHU_1.43299120 1 43299121 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent JHU_1.43299191 1 43299192 [T/A] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent JHU_1.43299234 1 43299235 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent JHU_1.43299299 1 43299300 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent JHU_1.43299647 1 43299648 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent JHU_1.43299834 1 43299835 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent JHU_1.43300585 1 43300586 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35639488 1 43300593 [G/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent JHU_1.43300662 1 43300663 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs4660673 1 43300921 [C/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35886249 1 43300925 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent exm51192 1 43301427 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_T192M,Missense_T192M newrs144054863 1 43301431 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_E193E,Synonymous_E193E variant.2817 1 43301433 [T/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_V194G,Missense_V194G variant.2818 1 43301435 [T/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_D195Y,Missense_D195Y rs34475455 1 43301454 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs36034742 1 43302047 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34612413 1 43302175 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34006242 1 43302249 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs1466548 1 43302971 [G/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34028726 1 43303116 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs17386162 1 43303365 [C/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs7522285 1 43303580 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34600748 1 43303973 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35913063 1 43304041 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35932223 1 43304074 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35828903 1 43304087 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34391768 1 43304236 [C/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34422238 1 43304277 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35761132 1 43304368 [A/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent indel.2820 1 43304589 [D/I] NM_001017922,NM_018538 ERMAP,ERMAP EXON rs34228099 1 43304625 [C/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34303058 1 43304641 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34926729 1 43304921 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35932547 1 43305001 [C/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent 1:43305712-CT 1 43305712 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R216W,Missense_R216W exm51206 1 43305713 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R216Q,Missense_R216Q rs12034000 1 43305753 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent variant.2821 1 43305945 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Nonsense_W230X,Nonsense_W230X rs11210729 1 43306128 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35664753 1 43306500 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35739712 1 43307022 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35388763 1 43307180 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs12078281 1 43307632 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35303774 1 43307824 [G/C] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs34993626 1 43308154 [C/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent rs35147822 1 43308250 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_C259R,Missense_C259R exm51215 1 43308263 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_G263E,Missense_G263E exm51218 1 43308310 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_V279I,Missense_V279I rs35972628 1 43308363 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_E296E,Synonymous_E296E exm1811291 1 43308367 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_Y298H,Missense_Y298H exm51229 1 43308451 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_N326D,Missense_N326D 1:43308479-GA 1 43308479 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R335H,Missense_R335H exm51234 1 43308524 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R350H,Missense_R350H indel.2823 1 43308591 [I/D] NM_001017922,NM_018538 ERMAP,ERMAP EXON 1:43308626-CA 1 43308626 [A/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_T384N,Missense_T384N 1:43308634 1 43308634 [T/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_F387V,Missense_F387V chr1_43308643 1 43308643 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_P390S,Missense_P390S exm51241 1 43308650 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R392H,Missense_R392H exm2251756 1 43308702 [A/T] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_L409L,Synonymous_L409L variant.2824 1 43308713 [A/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Nonsense_S413X,Nonsense_S413X 1:43308892-CT 1 43308892 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_P473S,Missense_P473S rs56075886 1 43308989 [D/I] NM_001017922,NM_018538 ERMAP,ERMAP EXON JHU_1.43309166 1 43309167 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Silent,Silent rs11806407 1 43309209 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Silent,Silent rs35728345 1 43309231 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Silent,Silent JHU_1.43309366 1 43309367 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Silent,Silent rs1484324 1 43309548 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Silent,Silent rs34318657 1 43309965 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Silent,Silent rs34032942 1 43310189 [T/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Silent,Silent rs12406279 1 43310639 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Silent,Silent exm51246 1 43316652 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_S39N,Missense_S8N 1:43316679-GA 1 43316679 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_G48E,Missense_G17E exm51249 1 43316688 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_G51D,Missense_G20D 1:43316733-CA 1 43316733 [A/C] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_P66H,Missense_P35H exm51261 1 43316924 [G/C] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_L130V,Missense_L99V exm1811302 1 43317023 [T/C] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_R163W,Missense_R132W 1:43317024-GA 1 43317024 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_R163Q,Missense_R132Q 1:43317191-CT 1 43317191 [T/C] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_R219W,Missense_R188W 1:43317320-CT 1 43317320 [T/C] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Missense_R262W,Missense_R231W 1:43317612-AG 1 43317612 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Silent,Silent rs9960 1 43317793 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Silent,Silent JHU_1.43318477 1 43318478 [T/C] rs4660234 1 43319272 [T/C] JHU_1.43320396 1 43320397 [T/C] rs12022524 1 43326208 [T/C] NR_104171 LOC339539 Silent rs72968665 1 43343653 [A/G] NR_104171 LOC339539 Silent rs115599899 1 43347766 [T/A] NR_104171 LOC339539 Silent rs6674019 1 43353134 [T/G] NR_104171 LOC339539 EXON Silent JHU_1.43355242 1 43355243 [T/A] JHU_1.43359018 1 43359019 [A/G] JHU_1.43366079 1 43366080 [T/G] rs58336498 1 43366761 [T/C] rs1484325 1 43367643 [T/C] rs12564800 1 43367726 [A/C] rs841859 1 43367875 [T/C] rs11210751 1 43368150 [T/C] JHU_1.43369536 1 43369537 [A/G] rs79871827 1 43369810 [A/G] rs117989477 1 43370174 [T/A] rs140577666 1 43373062 [T/C] JHU_1.43379121 1 43379122 [T/C] rs1098782 1 43381026 [A/G] rs11808693 1 43381734 [T/C] rs841844 1 43387302 [C/G] JHU_1.43389578 1 43389579 [T/C] rs4658 1 43392250 [C/G] NM_006516 SLC2A1 EXON Silent rs146879902 1 43392754 [A/G] NM_006516 SLC2A1 EXON Synonymous_P479P rs75852730 1 43392796 [A/G] NM_006516 SLC2A1 EXON Synonymous_S465S rs13306758 1 43392819 [T/G] NM_006516 SLC2A1 EXON Synonymous_R458R 1:43392825-A-T 1 43392825 [A/T] NM_006516 SLC2A1 EXON Nonsense_K456X rs75485205 1 43392895 [A/G] NM_006516 SLC2A1 EXON Synonymous_Y432Y seq-rs796053264 1 43393282 [A/C] NM_006516 SLC2A1 EXON Nonsense_Y424X exm51289 1 43393338 [T/C] NM_006516 SLC2A1 EXON Missense_V406I rs148800393 1 43393338 [T/C] NM_006516 SLC2A1 EXON Missense_V406I ilmnseq_rs796053263 1 43393356 [A/G] NM_006516 SLC2A1 EXON Missense_R400C seq-rs796053263 1 43393356 [A/G] NM_006516 SLC2A1 EXON Missense_R400C rs2236574 1 43393384 [A/G] NM_006516 SLC2A1 EXON Synonymous_I390I seq-rs796053262 1 43393397 [A/C] NM_006516 SLC2A1 EXON Missense_I386S seq-rs587784391 1 43393465 [D/I] NM_006516 SLC2A1 EXON ilmnseq_rs769943554 1 43394643 [A/G] NM_006516 SLC2A1 EXON Missense_A345V exm51298 1 43394661 [A/G] NM_006516 SLC2A1 EXON Missense_I339T rs141619735 1 43394661 [A/G] NM_006516 SLC2A1 EXON Missense_I339T seq-rs796053271 1 43394671 [D/I] NM_006516 SLC2A1 EXON rs80359825 1 43394680 [A/G] NM_006516 SLC2A1 EXON Missense_R333W rs80359826 1 43394689 [A/G] NM_006516 SLC2A1 EXON Nonsense_R330X seq-rs796053255 1 43394695 [A/C] NM_006516 SLC2A1 EXON Missense_V328L rs80359838 1 43394696 [I/D] NM_006516 SLC2A1 EXON seq-rs796053270 1 43394698 [D/I] NM_006516 SLC2A1 EXON 1:43394855-TG-T 1 43394855 [D/I] NM_006516 SLC2A1 ilmnseq_rs531385270 1 43394874 [D/I] NM_006516 SLC2A1 seq-rs796053269 1 43394878 [D/I] NM_006516 SLC2A1 rs796053254 1 43394881 [T/C] NM_006516 SLC2A1 EXON Synonymous_S324S ilmnseq_rs796053253 1 43394882 [A/G] NM_006516 SLC2A1 EXON Missense_S324L seq-rs796053253 1 43394882 [A/G] NM_006516 SLC2A1 EXON Missense_S324L rs121909739 1 43394913 [T/C] NM_006516 SLC2A1 EXON Missense_G314S seq-rs796065334 1 43394945 [D/I] NM_006516 SLC2A1 EXON ilmnseq_rs55693364 1 43394947 [A/C] NM_006516 SLC2A1 EXON Synonymous_G302G rs148518827 1 43394958 [T/C] NM_006516 SLC2A1 EXON Missense_E299K rs80359823 1 43394969 [A/G] NM_006516 SLC2A1 EXON Missense_T295M 1:43395093-AC 1 43395093 [A/C] NM_006516 SLC2A1 Silent 1:43395195-CG 1 43395195 [G/C] NM_006516 SLC2A1 Silent seq-rs796053251 1 43395283 [T/C] NM_006516 SLC2A1 EXON Missense_Q283R seq-rs587784397 1 43395284 [A/G] NM_006516 SLC2A1 EXON Nonsense_Q283X seq-rs796053268 1 43395290 [I/D] NM_006516 SLC2A1 EXON rs121909740 1 43395308 [T/C] NM_006516 SLC2A1 EXON Missense_A275T exm51318 1 43395326 [A/G] NM_006516 SLC2A1 EXON Missense_R269C rs78388808 1 43395354 [A/G] NM_006516 SLC2A1 EXON Synonymous_I259I seq-rs80359822 1 43395364 [T/C] NM_006516 SLC2A1 EXON Missense_K256R seq-rs587784396 1 43395383 [A/G] NM_006516 SLC2A1 EXON Nonsense_Q250X seq-rs796053250 1 43395386 [A/G] NM_006516 SLC2A1 EXON Missense_R249W ilmnseq_rs794729221 1 43395407 [A/G] NM_006516 SLC2A1 EXON Nonsense_Q242X seq-rs796053249 1 43395424 [T/A] NM_006516 SLC2A1 EXON Missense_D236V Variant48316 1 43395437 [A/G] NM_006516 SLC2A1 EXON Missense_R232C seq-rs387907313 1 43395437 [A/G] NM_006516 SLC2A1 EXON Missense_R232C JHU_1.43395536 1 43395537 [C/G] NM_006516 SLC2A1 Silent ilmnseq_rs139492241 1 43395540 [T/G] NM_006516 SLC2A1 Silent seq-rs796053248 1 43395556 [A/G] NM_006516 SLC2A1 EXON Missense_R223W rs147249343 1 43395571 [A/G] NM_006516 SLC2A1 EXON Missense_R218C IlmnSeq_rs387907312 1 43395589 [A/G] NM_006516 SLC2A1 EXON Missense_R212C rs377674001 1 43395680 [A/G] NM_006516 SLC2A1 EXON Synonymous_G181G seq-rs796053267 1 43395684 [I/D] NM_006516 SLC2A1 EXON rs150971143 1 43396315 [A/G] NM_006516 SLC2A1 EXON Synonymous_V166V seq-rs794727642 1 43396355 [T/C] NM_006516 SLC2A1 EXON Missense_R153H rs80359820 1 43396377 [T/C] NM_006516 SLC2A1 EXON Missense_E146K rs80359819 1 43396425 [T/C] NM_006516 SLC2A1 EXON Missense_G130S ilmnseq_rs80359816 1 43396436 [T/C] NM_006516 SLC2A1 EXON Missense_R126H rs80359818 1 43396437 [A/G] NM_006516 SLC2A1 EXON Missense_R126C ilmnseq_rs577667739 1 43396500 [T/C] NM_006516 SLC2A1 EXON Missense_V105M 1:43396500-CT 1 43396500 [T/C] NM_006516 SLC2A1 EXON Missense_V105M Variant48319 1 43396527 [T/C] NM_006516 SLC2A1 EXON Missense_M96V rs267607061 1 43396536 [A/G] NM_006516 SLC2A1 EXON Missense_R93W rs369273744 1 43396544 [A/G] NM_006516 SLC2A1 Silent Variant48320 1 43396813 [A/G] NM_006516 SLC2A1 EXON Missense_T60M seq-rs796053265 1 43396880 [D/I] NM_006516 SLC2A1 rs3820548 1 43398396 [A/G] NM_006516 SLC2A1 Silent rs12071418 1 43398477 [G/C] NM_006516 SLC2A1 Silent JHU_1.43398774 1 43398775 [T/G] NM_006516 SLC2A1 Silent rs11799736 1 43399996 [A/G] NM_006516 SLC2A1 Silent JHU_1.43400245 1 43400246 [T/A] NM_006516 SLC2A1 Silent rs3729548 1 43400352 [T/C] NM_006516 SLC2A1 Silent rs841853 1 43401438 [A/C] NM_006516 SLC2A1 Silent rs841852 1 43401499 [T/C] NM_006516 SLC2A1 Silent 1:43408910-A-T 1 43408910 [T/A] NM_006516 SLC2A1 EXON Missense_N34I seq-rs587784390 1 43408911 [T/C] NM_006516 SLC2A1 EXON Missense_N34D seq-rs796053273 1 43408932 [T/C] NM_006516 SLC2A1 EXON Missense_G27S seq-rs587784393 1 43408983 [I/D] NM_006516 SLC2A1 EXON exm51361 1 43408984 [T/C] NM_006516 SLC2A1 EXON Synonymous_T9T seq-rs796053272 1 43408994 [T/C] NM_006516 SLC2A1 Silent rs12718444 1 43409179 [T/G] NM_006516 SLC2A1 Silent rs41310434 1 43409199 [A/G] NM_006516 SLC2A1 Silent rs60019882 1 43410830 [T/A] NM_006516 SLC2A1 Silent JHU_1.43410829 1 43410830 [T/A] NM_006516 SLC2A1 Silent rs2086856 1 43412259 [A/G] NM_006516 SLC2A1 Silent rs710222 1 43413653 [A/G] NM_006516 SLC2A1 Silent rs2297977 1 43415288 [T/G] NM_006516 SLC2A1 Silent rs17387775 1 43416133 [T/C] NM_006516 SLC2A1 Silent rs2297972 1 43418026 [T/C] NM_006516 SLC2A1 Silent rs3768045 1 43421524 [T/C] NM_006516 SLC2A1 Silent ilmnseq_rs587781171 1 43424293 [A/C] NM_006516 SLC2A1 Silent rs80359841 1 43424304 [T/C] NM_006516 SLC2A1 Silent rs3738514 1 43426591 [T/C] NR_033967 SLC2A1-AS1 Silent 1:43427218-T-A 1 43427218 [T/A] NR_033967 SLC2A1-AS1 Silent rs77841501 1 43428964 [C/G] NR_033967 SLC2A1-AS1 Silent JHU_1.43432556 1 43432557 [A/G] NR_033967 SLC2A1-AS1 Silent rs75629963 1 43434330 [A/G] NR_033967 SLC2A1-AS1 Silent rs841572 1 43436051 [A/G] NR_033967 SLC2A1-AS1 EXON Silent rs3738516 1 43440201 [A/C] NR_033967 SLC2A1-AS1 Silent rs12026173 1 43447879 [T/C] NR_033967 SLC2A1-AS1 Silent rs146761811 1 43448543 [T/C] NR_033967 SLC2A1-AS1 Silent exm2268677 1 43450729 [T/C] rs115897087 1 43450801 [T/C] rs7515271 1 43451901 [A/G] rs114178829 1 43455184 [A/G] JHU_1.43456277 1 43456278 [A/G] rs710212 1 43457170 [T/C] rs4660697 1 43458250 [T/C] rs1198257 1 43459636 [A/G] rs77709166 1 43462389 [T/A] rs4660241 1 43462497 [A/G] rs116400334 1 43466068 [A/G] rs2792599 1 43467068 [A/C] rs841568 1 43468555 [A/G] rs1754154 1 43470766 [T/G] rs9326132 1 43471182 [T/G] rs9659797 1 43471366 [T/C] JHU_1.43486623 1 43486624 [T/G] rs841421 1 43489176 [A/G] rs140457828 1 43489529 [T/C] rs147027759 1 43489661 [A/G] rs643042 1 43489969 [A/G] JHU_1.43490265 1 43490266 [T/C] JHU_1.43491256 1 43491257 [A/C] JHU_1.43494778 1 43494779 [T/C] rs841411 1 43496533 [A/G] rs35779166 1 43499696 [T/C] rs841386 1 43500553 [T/C] rs841390 1 43502932 [T/C] JHU_1.43504139 1 43504140 [T/C] rs634669 1 43505440 [T/C] rs17140015 1 43506477 [T/C] rs561874 1 43507645 [T/C] JHU_1.43507897 1 43507898 [A/G] JHU_1.43511644 1 43511645 [T/G] rs499687 1 43511841 [A/G] rs16830248 1 43517953 [T/G] rs138806334 1 43518397 [A/G] rs16866254 1 43519301 [A/C] JHU_1.43523004 1 43523005 [T/C] JHU_1.43523468 1 43523469 [C/G] JHU_1.43523497 1 43523498 [A/C] JHU_1.43523659 1 43523660 [T/C] JHU_1.43523706 1 43523707 [T/G] JHU_1.43523769 1 43523770 [T/C] JHU_1.43523800 1 43523801 [T/C] JHU_1.43523829 1 43523830 [T/A] JHU_1.43523884 1 43523885 [A/G] JHU_1.43523931 1 43523932 [A/C] JHU_1.43523948 1 43523949 [A/G] JHU_1.43524004 1 43524005 [A/G] JHU_1.43524266 1 43524267 [T/C] JHU_1.43524290 1 43524291 [A/G] JHU_1.43526024 1 43526025 [A/G] JHU_1.43529515 1 43529516 [A/G] rs72678376 1 43535639 [T/C] rs607464 1 43536477 [A/G] rs666837 1 43537620 [T/C] rs1152771 1 43537981 [T/C] rs13375309 1 43539443 [T/C] JHU_1.43540962 1 43540963 [T/C] rs507481 1 43543617 [T/C] JHU_1.43544875 1 43544876 [A/G] rs74983034 1 43546551 [A/G] rs518168 1 43546633 [T/G] JHU_1.43547024 1 43547025 [C/G] JHU_1.43550880 1 43550881 [T/C] JHU_1.43565466 1 43565467 [A/C] JHU_1.43566356 1 43566357 [A/T] JHU_1.43570320 1 43570321 [T/A] rs72962576 1 43573870 [A/G] rs117395418 1 43576855 [T/G] rs77985252 1 43576941 [T/C] rs578598 1 43587725 [A/G] rs16830355 1 43595231 [A/G] exm-rs16830359 1 43596384 [A/G] exm2265003 1 43597014 [A/G] rs7518482 1 43597229 [T/C] JHU_1.43600413 1 43600414 [T/G] rs558404 1 43602321 [T/C] rs141851005 1 43604546 [T/C] rs74501224 1 43605441 [T/C] JHU_1.43607411 1 43607412 [A/G] JHU_1.43607982 1 43607983 [A/C] rs7536884 1 43610581 [C/G] rs627263 1 43611005 [A/G] rs12029592 1 43613023 [A/G] 1:43613625-GA 1 43613625 [A/G] NM_001101376 FAM183A EXON Missense_M1I exm51396 1 43613737 [A/G] NM_001101376 FAM183A EXON Missense_V39M rs10890239 1 43615173 [T/C] NM_001101376 FAM183A Silent rs584672 1 43615668 [A/G] NM_001101376 FAM183A Silent 1:43616469-TC 1 43616469 [T/C] NM_001101376 FAM183A EXON Synonymous_D57D var_1_43616475 1 43616475 [A/G] NM_001101376 FAM183A EXON Synonymous_L59L variant.2833 1 43616479 [T/G] NM_001101376 FAM183A EXON Nonsense_E61X 1:43616485-GT 1 43616485 [T/G] NM_001101376 FAM183A EXON Missense_A63S variant.2834 1 43616486 [T/C] NM_001101376 FAM183A EXON Missense_A63V 1:43618647-CA 1 43618647 [A/C] NM_001101376 FAM183A Silent exm51407 1 43621877 [A/G] NM_001101376 FAM183A EXON Missense_I100V exm51411 1 43621956 [A/G] NM_001101376 FAM183A EXON Nonsense_W126X exm51412 1 43621973 [T/C] NM_001101376 FAM183A EXON Missense_H132Y JHU_1.43622476 1 43622477 [A/C] JHU_1.43623202 1 43623203 [A/C] rs1691309 1 43628375 [G/C] exm51416 1 43630315 [T/A] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_N290I,Missense_N345I Variant12375 1 43630339 [I/D] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON 1:43630400-GA 1 43630400 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_R262W,Missense_R317W exm51420 1 43630460 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_R242W,Missense_R297W exm51423 1 43632536 [T/C] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_R223H,Missense_R278H exm51424 1 43632537 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_R223C,Missense_R278C variant.2842 1 43636480 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Nonsense_R132X,Nonsense_R187X chr1_43637949 1 43637949 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Silent,Silent Variant37882 1 43637949 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Silent,Silent chr1_43637987 1 43637987 [T/C] NM_001159936 EBNA1BP2 EXON Missense_G36R Variant37883 1 43638021 [A/G] NM_001159936,NM_001167965,NM_001195831,NM_152498 EBNA1BP2,CFAP57,CFAP57,CFAP57 EXON Synonymous_Y24Y,Silent,Silent,Silent 1:43638044-AG 1 43638044 [A/G] NM_001159936,NM_001167965,NM_001195831,NM_152498 EBNA1BP2,CFAP57,CFAP57,CFAP57 EXON Missense_F17L,Silent,Silent,Silent rs6695238 1 43638436 [T/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Synonymous_V4V,Synonymous_V4V,Synonymous_V4V exm51465 1 43638455 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_V11I,Missense_V11I,Missense_V11I rs1782388 1 43638874 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 Silent,Silent,Silent rs621559 1 43645411 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 Silent,Silent,Silent exm-rs621559 1 43645411 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 Silent,Silent,Silent exm51470 1 43647253 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R69Q,Missense_R69Q,Missense_R69Q rs201770048 1 43647253 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R69Q,Missense_R69Q,Missense_R69Q 1:43647330-CT 1 43647330 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R95W,Missense_R95W,Missense_R95W rs182415363 1 43647331 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R95Q,Missense_R95Q,Missense_R95Q exm51481 1 43647421 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_Q125R,Missense_Q125R,Missense_Q125R rs144189781 1 43647421 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_Q125R,Missense_Q125R,Missense_Q125R exm51482 1 43647422 [C/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_Q125H,Missense_Q125H,Missense_Q125H exm51483 1 43647424 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_T126M,Missense_T126M,Missense_T126M rs143229697 1 43647429 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_P128S,Missense_P128S,Missense_P128S rs146670673 1 43647483 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_I146V,Missense_I146V,Missense_I146V exm51487 1 43647483 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_I146V,Missense_I146V,Missense_I146V exm51490 1 43649334 [T/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_A183S,Missense_A183S,Missense_A183S exm51496 1 43649424 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_V213I,Missense_V213I,Missense_V213I exm51499 1 43649473 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R229H,Missense_R229H,Missense_R229H rs663824 1 43649508 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_N241D,Missense_N241D,Missense_N241D exm51500 1 43649508 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_N241D,Missense_N241D,Missense_N241D rs200092574 1 43649517 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_K244E,Missense_K244E,Missense_K244E 1:43650898-GA 1 43650898 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_M280I,Missense_M280I,Missense_M280I 1:43650979-TG 1 43650979 [T/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_F307L,Missense_F307L,Missense_F307L exm51512 1 43651024 [C/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_I322M,Missense_I322M,Missense_I322M rs74857529 1 43651024 [C/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_I322M,Missense_I322M,Missense_I322M exm51516 1 43652442 [C/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_C345S,Missense_C345S,Missense_C345S rs61776950 1 43653080 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 Silent,Silent,Silent 1:43663281-GA 1 43663281 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_G394S,Missense_G394S,Missense_G394S 1:43663299-CT 1 43663299 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R400C,Missense_R400C,Missense_R400C exm51532 1 43664170 [C/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_K427N,Missense_K427N,Missense_K427N rs603123 1 43664218 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Synonymous_H443H,Synonymous_H443H,Synonymous_H443H 1:43664228-GA 1 43664228 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_V447I,Missense_V447I,Missense_V447I 1:43665131-CT 1 43665131 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_T500M,Missense_T500M,Missense_T500M 1:43665148-TG 1 43665148 [T/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_S506A,Missense_S506A,Missense_S506A rs620418 1 43671182 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 Silent,Silent,Silent exm51547 1 43672394 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R516C,Missense_R516C,Missense_R516C rs146401114 1 43672394 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R516C,Missense_R516C,Missense_R516C exm51553 1 43672499 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_V551M,Missense_V551M,Missense_V551M rs138469562 1 43672499 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_V551M,Missense_V551M,Missense_V551M Variant37884 1 43672540 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Synonymous_P564P,Synonymous_P564P,Synonymous_P564P exm51557 1 43672574 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_H576Y,Missense_H576Y,Missense_H576Y newrs146369173 1 43672605 [T/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 Silent,Silent,Silent variant.2849 1 43675420 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Nonsense_R588X,Nonsense_R588X,Nonsense_R588X exm51565 1 43675478 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R607H,Missense_R607H,Missense_R607H rs41301054 1 43675499 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_S614L,Missense_S614L,Missense_S614L exm51566 1 43675499 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_S614L,Missense_S614L,Missense_S614L exm51568 1 43675513 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R619C,Missense_R619C,Missense_R619C rs145112957 1 43675513 [T/C] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R619C,Missense_R619C,Missense_R619C exm51569 1 43675514 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R619H,Missense_R619H,Missense_R619H rs181283378 1 43675514 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_R619H,Missense_R619H,Missense_R619H rs199759108 1 43675526 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_Y623C,Missense_Y623C,Missense_Y623C 1:43675553-AG 1 43675553 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_N632S,Missense_N632S,Missense_N632S rs148890050 1 43675553 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_N632S,Missense_N632S,Missense_N632S exm51576 1 43675657 [A/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_T667A,Silent,Missense_T667A indel.2851 1 43675679 [I/D] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON indel.2852 1 43675747 [I/D] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON 1:43675748-TG 1 43675748 [T/G] NM_001167965,NM_001195831,NM_152498 CFAP57,CFAP57,CFAP57 EXON Missense_F697C,Silent,Missense_F697C JHU_1.43679182 1 43679183 [G/C] NM_001195831 CFAP57 Silent JHU_1.43680951 1 43680952 [T/C] NM_001195831 CFAP57 EXON Synonymous_F652F rs78264644 1 43680974 [A/G] NM_001195831 CFAP57 EXON Missense_G660S rs143889464 1 43681026 [A/G] NM_001195831 CFAP57 EXON Missense_R677Q 1:43681073-GA 1 43681073 [A/G] NM_001195831 CFAP57 EXON Missense_D693N rs147248272 1 43681079 [A/G] NM_001195831 CFAP57 EXON Missense_E695K rs611261 1 43681872 [T/C] NM_001195831 CFAP57 Silent 1:43685117-TG 1 43685117 [T/G] NM_001195831 CFAP57 EXON Missense_L719R chr1_43685198 1 43685198 [T/C] NM_001195831 CFAP57 EXON Missense_T746I 1:43687095-AG 1 43687095 [A/G] NM_001195831 CFAP57 EXON Missense_E767G rs75967600 1 43687857 [A/G] NM_001195831 CFAP57 EXON Missense_E808G 1:43687857-AG 1 43687857 [A/G] NM_001195831 CFAP57 EXON Missense_E808G 1:43687928-GA 1 43687928 [A/G] NM_001195831 CFAP57 EXON Missense_E832K rs78435721 1 43687934 [A/C] NM_001195831 CFAP57 EXON Missense_K834Q rs181851855 1 43688470 [G/C] NM_001195831 CFAP57 Silent rs150404479 1 43688550 [T/C] NM_001195831 CFAP57 EXON Missense_I863T 1:43688670-TC 1 43688670 [T/C] NM_001195831 CFAP57 Silent rs57788257 1 43691286 [T/C] NM_001195831 CFAP57 Silent rs149872860 1 43691558 [T/G] NM_001195831 CFAP57 Silent 1:43692655-AG 1 43692655 [A/G] NM_001195831 CFAP57 EXON Missense_E956G JHU_1.43693319 1 43693320 [T/C] NM_001195831 CFAP57 Silent rs4660722 1 43695607 [T/G] NM_001195831 CFAP57 Silent rs522909 1 43696080 [T/G] NM_001195831 CFAP57 Silent rs3120045 1 43697968 [A/G] NM_001195831 CFAP57 Silent rs1212058 1 43699395 [T/C] NM_001195831 CFAP57 Silent rs7531285 1 43699791 [T/C] NM_001195831 CFAP57 Silent 1:43700014-TC 1 43700014 [T/C] NM_001195831 CFAP57 EXON Missense_I1097T JHU_1.43700139 1 43700140 [A/G] NM_001195831 CFAP57 Silent 1:43700253-AG 1 43700253 [A/G] NM_001195831 CFAP57 EXON Missense_K1150E rs7556572 1 43704023 [A/G] NM_001195831 CFAP57 Silent rs61479385 1 43704983 [A/G] NM_001195831 CFAP57 Silent rs1198878 1 43706059 [T/C] NM_001195831 CFAP57 Silent rs2991340 1 43707108 [A/G] NM_001195831 CFAP57 Silent rs10493115 1 43707283 [T/C] NM_001195831 CFAP57 Silent rs3862226 1 43707556 [A/C] NM_001195831 CFAP57 Silent rs185084915 1 43708928 [A/G] NM_001195831 CFAP57 EXON Missense_E1179K rs188867195 1 43708956 [A/G] NM_001195831 CFAP57 EXON Missense_R1188Q rs141245675 1 43709281 [T/C] NM_001195831 CFAP57 Silent rs75179494 1 43717828 [T/G] NM_001195831 CFAP57 Silent rs116240951 1 43719046 [T/C] NM_001195831 CFAP57 Silent 1:43719729-AG 1 43719729 [A/G] NM_001195831 CFAP57 EXON Missense_Q1240R 1:43719746-CT 1 43719746 [T/C] NM_001195831 CFAP57 EXON Missense_R1246C JHU_1.43734256 1 43734257 [T/C] JHU_1.43734355 1 43734356 [T/C] JHU_1.43736941 1 43736942 [T/C] NM_001320244,NM_144626 TMEM125,TMEM125 Silent,Silent rs147127328 1 43737801 [A/C] NM_001320244,NM_144626 TMEM125,TMEM125 Silent,Silent rs79096636 1 43738289 [T/C] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Silent,Silent 1:43738428-GA 1 43738428 [A/G] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_R12Q,Missense_R12Q exm51611 1 43738488 [A/G] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_R32Q,Missense_R32Q 1:43738494-CT 1 43738494 [T/C] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_S34L,Missense_S34L 1:43738542-CT 1 43738542 [T/C] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_A50V,Missense_A50V 1:43738613-GCT-G 1 43738613 [I/D] NM_001320244,NM_144626 TMEM125,TMEM125 EXON 1:43738625-GT 1 43738625 [T/G] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_A78S,Missense_A78S 1:43738664-GA 1 43738664 [A/G] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_V91M,Missense_V91M 1:43738721-GA 1 43738721 [A/G] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_G110R,Missense_G110R 1:43738790-GA 1 43738790 [A/G] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_G133R,Missense_G133R 1:43738817-CT 1 43738817 [T/C] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_R142W,Missense_R142W exm51640 1 43738829 [A/G] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_A146T,Missense_A146T exm51641 1 43738833 [T/C] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_M147T,Missense_M147T exm51646 1 43738950 [T/C] NM_001320244,NM_144626 TMEM125,TMEM125 EXON Missense_T186I,Missense_T186I 1:43738958-TGGCCATGGC-T 1 43738958 [D/I] NM_001320244,NM_144626 TMEM125,TMEM125 EXON rs2991996 1 43741713 [A/G] rs61488740 1 43742108 [T/C] JHU_1.43744433 1 43744434 [T/G] rs4660727 1 43746448 [T/C] exm51655 1 43748549 [A/C] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_D83E,Missense_D83E 1:43748569-GA 1 43748569 [A/G] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_R77C,Missense_R77C 1:43748605-GA 1 43748605 [A/G] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_R65W,Missense_R65W 1:43748625-CT 1 43748625 [T/C] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_R58H,Missense_R58H 1:43748652-GA 1 43748652 [A/G] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_A49V,Missense_A49V exm51662 1 43748701 [T/C] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_V33M,Missense_V33M exm51665 1 43748757 [T/A] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_L14H,Missense_L14H exm51666 1 43748763 [A/G] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_S12L,Missense_S12L 1:43748931-GT 1 43748931 [T/G] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_T4K,Missense_T4K exm51669 1 43748937 [T/C] NM_001164829,NM_182517 C1orf210,C1orf210 EXON Missense_N2S,Missense_N2S JHU_1.43749776 1 43749777 [T/A] NM_001164829,NM_182517 C1orf210,C1orf210 Silent,Silent rs72684077 1 43751396 [A/C] 1:43756486-G-A 1 43756486 [A/G] 1:43756512-A-G 1 43756512 [A/G] JHU_1.43756941 1 43756942 [T/G] rs6690113 1 43757955 [A/G] JHU_1.43758807 1 43758808 [T/C] rs4660253 1 43761651 [T/C] JHU_1.43765574 1 43765575 [A/C] 1:43765815-T-A 1 43765815 [A/T] JHU_1.43766705 1 43766706 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Silent,Silent exm51673 1 43766753 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Silent,Missense_R4Q rs7527092 1 43767138 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent 1:43767841-A-G 1 43767841 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent 1:43770518-C-G 1 43770518 [G/C] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent 1:43770707-CT 1 43770707 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R37C,Missense_R82C 1:43770858-AG 1 43770858 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent exm51688 1 43770936 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V91M,Missense_V136M 1:43770949-AT 1 43770949 [A/T] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_D95V,Missense_D140V 1:43770996-GA 1 43770996 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V111M,Missense_V156M exm51689 1 43771013 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Synonymous_N116N,Synonymous_N161N 1:43771014-GA 1 43771014 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_G117R,Missense_G162R exm51695 1 43772550 [T/A] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_D130V,Missense_D175V exm51697 1 43772592 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_S144L,Missense_S189L exm51699 1 43772597 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_G146S,Missense_G191S exm51704 1 43772665 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Synonymous_R168R,Synonymous_R213R 1:43772673-GA 1 43772673 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent 1:43772699-GA 1 43772699 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent 1:43772718-AG 1 43772718 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent exm51705 1 43772818 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_G171R,Missense_G216R 1:43772899-GA 1 43772899 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_E198K,Missense_E243K exm51711 1 43772905 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V200I,Missense_V245I exm1811977 1 43773117 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R218C,Missense_R263C exm51713 1 43773143 [C/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_Q226H,Missense_Q271H 1:43773475-CT 1 43773475 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_P263S,Missense_P308S rs1467809 1 43774437 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent 1:43774755-GA 1 43774755 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V336M,Missense_V381M rs2282226 1 43774878 [T/C] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent exm51735 1 43775113 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R370C,Missense_R415C exm2275444 1 43775114 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R370H,Missense_R415H exm51736 1 43775126 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_A374V,Missense_A419V 1:43775995-C-T 1 43775995 [T/C] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent JHU_1.43776962 1 43776963 [T/A] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent exm51738 1 43777350 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V403M,Missense_V448M exm51745 1 43777417 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_S425L,Missense_S470L 1:43777674-GA 1 43777674 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_S456N,Missense_S501N rs1999595 1 43777852 [T/C] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent 1:43778060-CT 1 43778060 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_P527L,Missense_P572L exm51772 1 43778866 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_T618I,Missense_T663I 1:43778973-GA 1 43778973 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_E654K,Missense_E699K exm51778 1 43778994 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R661C,Missense_R706C exm1812019 1 43779072 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V687I,Missense_V732I exm51783 1 43779095 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Synonymous_N694N,Synonymous_N739N 1:43779121-CT 1 43779121 [T/C] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent 1:43779656-GA 1 43779656 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent 1:43779746-GT 1 43779746 [T/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent exm51803 1 43782900 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_G769R,Missense_G814R exm51806 1 43782957 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_V788M,Missense_V833M indel.2866 1 43783610 [D/I] NM_001253357,NM_005424 TIE1,TIE1 EXON chr1_43783657 1 43783657 [T/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_G901W,Missense_G946W 1:43785017-AG 1 43785017 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_M967V,Missense_M1012V exm51834 1 43785133 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R969C,Missense_R1014C 1:43786002-G-A 1 43786002 [A/G] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent JHU_1.43786730 1 43786731 [A/C] NM_001253357,NM_005424 TIE1,TIE1 Silent,Silent 1:43787099-GA 1 43787099 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_E1016K,Missense_E1061K exm51845 1 43787352 [T/C] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_A1059V,Missense_A1104V exm51847 1 43787367 [A/G] NM_001253357,NM_005424 TIE1,TIE1 EXON Missense_R1064H,Missense_R1109H 1:43791212-C-A 1 43791212 [A/C] rs185277707 1 43794250 [T/A] rs116241141 1 43796302 [T/C] rs11576614 1 43798234 [T/G] rs117540372 1 43798926 [A/G] rs76186025 1 43800934 [A/G] 1:43803512-C-T 1 43803512 [T/C] NM_005373 MPL EXON Silent 1:43803576-CA 1 43803576 [A/C] NM_005373 MPL EXON Missense_N19K rs146249964 1 43803600 [T/A] NM_005373 MPL Silent exm51853 1 43803600 [T/A] NM_005373 MPL Silent ilmnseq_rs146249964 1 43803600 [T/A] NM_005373 MPL Silent exm51857 1 43803807 [T/G] NM_005373 MPL EXON Missense_K39N rs148434485 1 43803817 [T/C] NM_005373 MPL EXON Nonsense_R43X 1:43803817-CT 1 43803817 [T/C] NM_005373 MPL EXON Nonsense_R43X ilmnseq_rs148434485 1 43803817 [T/C] NM_005373 MPL EXON Nonsense_R43X 1:43803818-G-A 1 43803818 [A/G] NM_005373 MPL EXON Missense_R43Q exm2233409 1 43803863 [T/C] NM_005373 MPL EXON Missense_A58V exm51863 1 43803875 [T/C] NM_005373 MPL EXON Missense_T62I exm51865 1 43803899 [T/C] NM_005373 MPL EXON Missense_P70L 1:43803900-G-A 1 43803900 [A/G] NM_005373 MPL EXON Synonymous_P70P 1:43803902-G-A 1 43803902 [A/G] NM_005373 MPL EXON Missense_R71Q exm51868 1 43803903 [A/G] NM_005373 MPL Silent 1:43804224-G-A 1 43804224 [A/G] NM_005373 MPL EXON Missense_R75H Variant15893 1 43804235 [I/D] NM_005373 MPL EXON Variant48323 1 43804268 [T/C] NM_005373 MPL EXON Nonsense_R90X var_1_43804304 1 43804304 [T/C] NM_005373 MPL EXON Missense_R102C rs28928907 1 43804305 [G/C] NM_005373 MPL EXON Missense_R102P 1:43804305-G-C 1 43804305 [G/C] NM_005373 MPL EXON Missense_R102P 1:43804313-T-C 1 43804313 [T/C] NM_005373 MPL EXON Missense_F105L 1:43804317-CT 1 43804317 [T/C] NM_005373 MPL EXON Missense_P106L 1:43804318-G-A 1 43804318 [A/G] NM_005373 MPL EXON Synonymous_P106P rs12731981 1 43804340 [A/G] NM_005373 MPL EXON Missense_V114M exm51879 1 43804340 [A/G] NM_005373 MPL EXON Missense_V114M Variant48328 1 43804382 [T/G] NM_005373 MPL EXON Missense_D128Y 1:43804948-C-T 1 43804948 [T/C] NM_005373 MPL EXON Missense_P133L 1:43804958-C-G 1 43804958 [G/C] NM_005373 MPL EXON Synonymous_P136P Variant48330 1 43805010 [T/C] NM_005373 MPL EXON Missense_W154R 1:43805052-G-A 1 43805052 [A/G] NM_005373 MPL EXON Missense_E168K 1:43805059-GA 1 43805059 [A/G] NM_005373 MPL EXON Missense_R170H 1:43805093-T-C 1 43805093 [T/C] NM_005373 MPL EXON Synonymous_G181G 1:43805099-G-A 1 43805099 [A/G] NM_005373 MPL EXON Synonymous_T183T 1:43805106-C-T 1 43805106 [T/C] NM_005373 MPL EXON Nonsense_Q186X exm51889 1 43805143 [A/G] NM_005373 MPL EXON Missense_Q198R exm51894 1 43805205 [G/C] NM_005373 MPL EXON Missense_Q219E exm51895 1 43805227 [A/C] NM_005373 MPL EXON Missense_S226Y exm51896 1 43805240 [A/G] NM_005373 MPL EXON Synonymous_E230E exm51897 1 43805656 [T/G] NM_005373 MPL EXON Missense_G238C rs141311765 1 43805698 [T/C] NM_005373 MPL EXON Missense_Y252H exm51898 1 43805698 [T/C] NM_005373 MPL EXON Missense_Y252H rs121913611 1 43805713 [T/C] NM_005373 MPL EXON Missense_R257C 1:43805713-C-T 1 43805713 [T/C] NM_005373 MPL EXON Missense_R257C exm1812074 1 43805737 [T/C] NM_005373 MPL EXON Missense_L265F 1:43805767-C-A 1 43805767 [A/C] NM_005373 MPL EXON Missense_P275T variant.2878 1 43805802 [T/G] NM_005373 MPL Silent exm51902 1 43806060 [A/G] NM_005373 MPL EXON Missense_A286T exm51907 1 43806166 [A/G] NM_005373 MPL EXON Missense_R321Q 1:43806167-G-T 1 43806167 [T/G] NM_005373 MPL EXON Synonymous_R321R 1:43811065-T-A 1 43811065 [A/T] NM_005373 MPL Silent exm51914 1 43812138 [A/G] NM_005373 MPL EXON Missense_E335K 1:43812166 1 43812166 [T/A] NM_005373 MPL EXON Missense_L344Q 1:43812178-A-G 1 43812178 [A/G] NM_005373 MPL EXON Missense_Q348R 1:43812186-C-T 1 43812186 [T/C] NM_005373 MPL EXON Missense_R351C 1:43812198-AG 1 43812198 [A/G] NM_005373 MPL EXON Missense_K355E Variant48332 1 43812204 [T/C] NM_005373 MPL EXON Nonsense_R357X 1:43812465-C-T 1 43812465 [T/C] NM_005373 MPL EXON Missense_R390C 1:43812494-G-A 1 43812494 [A/G] NM_005373 MPL EXON Synonymous_R399R 1:43812501-T-C 1 43812501 [T/C] NM_005373 MPL EXON Missense_S402P 1:43812549-G-A 1 43812549 [A/G] NM_005373 MPL EXON Missense_A418T var_1_43812573 1 43812573 [T/C] NM_005373 MPL EXON Nonsense_R426X 1:43812574-G-A 1 43812574 [A/G] NM_005373 MPL EXON Missense_R426Q 1:43814541-GA 1 43814541 [A/G] NM_005373 MPL EXON Missense_G446R chr1_43814619 1 43814619 [A/G] NM_005373 MPL EXON Missense_G472S 1:43814623-CA 1 43814623 [A/C] NM_005373 MPL EXON Missense_P473H 1:43814632-CA 1 43814632 [A/C] NM_005373 MPL EXON Nonsense_S476X 1:43814640-GA 1 43814640 [A/G] NM_005373 MPL EXON Missense_D479N 1:43814642-CA 1 43814642 [A/C] NM_005373 MPL EXON Missense_D479E 1:43814643-CA 1 43814643 [A/C] NM_005373 MPL EXON Missense_P480T 1:43814938-G-A 1 43814938 [A/G] NM_005373 MPL EXON Nonsense_W491X 1:43814953-C-T 1 43814953 [T/C] NM_005373 MPL EXON Synonymous_T496T 1:43814979-G-A 1 43814979 [A/G] NM_005373 MPL EXON Missense_S505N 1:43815009-G-T 1 43815009 [T/G] NM_005373 MPL EXON Missense_W515L 1:43815035-CT 1 43815035 [T/C] NM_005373 MPL Silent 1:43815041-C-T 1 43815041 [T/C] NM_005373 MPL Silent 1:43817353-A-G 1 43817353 [A/G] NM_005373 MPL Silent 1:43817891-C-T 1 43817891 [T/C] NM_005373 MPL EXON Synonymous_L524L 1:43817894-A-C 1 43817894 [A/C] NM_005373 MPL EXON Synonymous_R525R 1:43817930-C-T 1 43817930 [T/C] NM_005373 MPL EXON Missense_R537W exm51943 1 43817931 [A/G] NM_005373 MPL EXON Missense_R537Q 1:43817942-C-T 1 43817942 [T/C] NM_005373 MPL EXON Nonsense_Q541X chr1_43817961 1 43817961 [T/C] NM_005373 MPL EXON Missense_A547V 1:43817971-C-T 1 43817971 [T/C] NM_005373 MPL EXON Synonymous_S550S Variant48334 1 43817973 [T/C] NM_005373 MPL EXON Missense_P551L exm51947 1 43817974 [A/G] NM_005373 MPL EXON Synonymous_P551P Variant15895 1 43817974 [D/I] NM_005373 MPL EXON 1:43818274-T-C 1 43818274 [T/C] NM_005373 MPL EXON Missense_L580S 1:43818329-C-T 1 43818329 [T/C] NM_005373 MPL EXON Synonymous_C598C 1:43818338-C-T 1 43818338 [T/C] NM_005373 MPL EXON Synonymous_T601T exm51957 1 43818376 [C/G] NM_005373 MPL EXON Missense_G614A 1:43818439-C-T 1 43818439 [T/C] NM_005373 MPL EXON Missense_P635L rs77858532 1 43818537 [A/C] NM_005373 MPL EXON Silent 1:43822885-T-A 1 43822885 [T/A] rs181096471 1 43823088 [T/C] chr1_43824944 1 43824944 [A/C] NM_001255 CDC20 EXON Missense_I20L 1:43824974-CT 1 43824974 [T/C] NM_001255 CDC20 EXON Missense_R30C exm2233411 1 43826019 [A/G] NM_001255 CDC20 EXON Missense_G238S 1:43826040-AG 1 43826040 [A/G] NM_001255 CDC20 EXON Missense_T245A 1:43826099-A-G 1 43826099 [A/G] NM_001255 CDC20 Silent rs190674570 1 43826252 [A/G] NM_001255 CDC20 EXON Missense_Y279C exm51989 1 43826260 [T/G] NM_001255 CDC20 EXON Missense_S282A exm51990 1 43826261 [T/C] NM_001255 CDC20 EXON Missense_S282F rs710251 1 43826312 [A/C] NM_001255 CDC20 Silent 1:43826507-GA 1 43826507 [A/G] NM_001255 CDC20 EXON Missense_A318T variant.2896 1 43826519 [T/C] NM_001255 CDC20 EXON Nonsense_R322X exm52000 1 43826794 [A/G] NM_001255 CDC20 EXON Missense_V361I rs11210838 1 43827190 [A/C] NM_001255 CDC20 Silent variant.2898 1 43827984 [T/G] NM_001255 CDC20 Silent exm52012 1 43828736 [A/G] NM_001255 CDC20 EXON Missense_R479Q 1:43829730-TC 1 43829730 [T/C] NM_001256402,NM_001256399,NM_001256401,NR_046117,NM_022821 ELOVL1,ELOVL1,ELOVL1,ELOVL1,ELOVL1 EXON Missense_I152V,Missense_I233V,Missense_I206V,Silent,Missense_I233V exm52042 1 43831268 [T/C] NM_001256402,NM_001256399,NM_001256401,NR_046117,NM_022821 ELOVL1,ELOVL1,ELOVL1,ELOVL1,ELOVL1 EXON Silent,Missense_V5M,Missense_V5M,Silent,Missense_V5M exm52044 1 43831295 [A/C] NM_001256402,NM_001256399,NM_001256401,NR_046117,NM_022821 ELOVL1,ELOVL1,ELOVL1,ELOVL1,ELOVL1 Silent,Silent,Silent,Silent,Silent 1:43831545-C-T 1 43831545 [T/C] NM_001256402,NM_001256399,NM_001256401,NR_046117,NM_022821 ELOVL1,ELOVL1,ELOVL1,ELOVL1,ELOVL1 Silent,Silent,Silent,Silent,Silent rs77175505 1 43834112 [A/G] 1:43836078-C-T 1 43836078 [T/C] 1:43847091-C-T 1 43847091 [T/C] exm52047 1 43850140 [A/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_A296V,Silent,Silent Variant61 1 43850142 [I/D] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON 1:43850182-CT 1 43850182 [T/C] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_R282H,Silent,Silent exm52051 1 43850183 [A/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_R282C,Silent,Silent 1:43850741-GT 1 43850741 [T/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Nonsense_S260X,Nonsense_S171X,Nonsense_S260X exm52057 1 43851661 [T/C] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_A244T,Missense_A155T,Missense_A244T rs11541153 1 43851797 [A/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Synonymous_G198G,Synonymous_G109G,Synonymous_G198G 1:43851867-GA 1 43851867 [A/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_P175L,Missense_P86L,Missense_P175L exm52067 1 43852334 [A/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_I140T,Missense_I51T,Missense_I140T variant.2903 1 43853174 [T/C] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_M90I,Missense_M1I,Missense_M90I exm52079 1 43854091 [C/G] NM_052877,NM_001001653,NM_201542 MED8,MED8,MED8 EXON Missense_E5D,Silent,Missense_E5D rs839752 1 43855546 [A/G] 1:43858386-A-G 1 43858386 [A/G] NM_015284 SZT2 Silent 1:43859668-C-T 1 43859668 [T/C] NM_015284 SZT2 Silent rs117460776 1 43864202 [A/T] NM_015284 SZT2 Silent JHU_1.43864965 1 43864966 [T/C] NM_015284 SZT2 Silent 1:43868893-C-T 1 43868893 [T/C] NM_015284 SZT2 EXON Nonsense_R25X rs199859472 1 43868903 [A/G] NM_015284 SZT2 EXON Missense_R28Q exm52100 1 43870091 [A/G] NM_015284 SZT2 EXON Missense_H123R 1:43870153-GA 1 43870153 [A/G] NM_015284 SZT2 EXON Missense_D144N rs11803612 1 43871592 [T/G] NM_015284 SZT2 Silent rs839769 1 43872067 [T/C] NM_015284 SZT2 Silent JHU_1.43877263 1 43877264 [T/C] NM_015284 SZT2 Silent 1:43880874-CA 1 43880874 [A/C] NM_015284 SZT2 EXON Missense_P207H 1:43881725-GA 1 43881725 [A/G] NM_015284 SZT2 EXON Missense_R242H rs117068776 1 43884225 [T/C] NM_015284 SZT2 Silent 1:43885423-TC 1 43885423 [T/C] NM_015284 SZT2 EXON Missense_Y300H exm52121 1 43886494 [T/C] NM_015284 SZT2 EXON Missense_P446S rs2782643 1 43886494 [T/C] NM_015284 SZT2 EXON Missense_P446S 1:43886614-CA 1 43886614 [A/C] NM_015284 SZT2 EXON Missense_R486S 1:43888177-CT 1 43888177 [T/C] NM_015284 SZT2 EXON Missense_P599L 1:43888225-CA 1 43888225 [A/C] NM_015284 SZT2 EXON Missense_S615Y 1:43888818-CT 1 43888818 [T/C] NM_015284 SZT2 EXON Missense_R696W 1:43888824-C-T 1 43888824 [T/C] NM_015284 SZT2 EXON Nonsense_Q698X 1:43890532-AG 1 43890532 [A/G] NM_015284 SZT2 EXON Missense_Q850R 1:43890802-GA 1 43890802 [A/G] NM_015284 SZT2 EXON Missense_A857T exm52148 1 43891273 [A/T] NM_015284 SZT2 EXON Missense_K925M rs149778841 1 43891286 [C/G] NM_015284 SZT2 EXON Missense_D929E exm52149 1 43891286 [C/G] NM_015284 SZT2 EXON Missense_D929E exm52151 1 43891291 [T/C] NM_015284 SZT2 EXON Missense_T931M exm52153 1 43891311 [A/G] NM_015284 SZT2 EXON Missense_A938T 1:43891578-AG 1 43891578 [A/G] NM_015284 SZT2 EXON Missense_K963E exm52154 1 43891579 [A/G] NM_015284 SZT2 EXON Missense_K963R rs143492016 1 43891939 [A/G] NM_015284 SZT2 Silent 1:43892422-CT 1 43892422 [T/C] NM_015284 SZT2 EXON Missense_P1027L exm52169 1 43892785 [A/G] NM_015284 SZT2 EXON Missense_R1066H exm52171 1 43892842 [T/C] NM_015284 SZT2 EXON Missense_T1085I exm52172 1 43892961 [A/G] NM_015284 SZT2 EXON Missense_R1091H exm52175 1 43892987 [T/C] NM_015284 SZT2 EXON Missense_P1100S exm52178 1 43893029 [T/G] NM_015284 SZT2 EXON Missense_G1114W exm52184 1 43893240 [A/G] NM_015284 SZT2 EXON Missense_R1156H variant.2907 1 43893242 [T/C] NM_015284 SZT2 EXON Nonsense_R1157X 1:43893384-CT 1 43893384 [T/C] NM_015284 SZT2 EXON Missense_A1204V exm52191 1 43893693 [C/G] NM_015284 SZT2 EXON Missense_P1218A exm1812262 1 43893708 [A/G] NM_015284 SZT2 EXON Missense_A1223T exm1812265 1 43894042 [T/C] NM_015284 SZT2 EXON Missense_W1294R exm52200 1 43894045 [T/G] NM_015284 SZT2 EXON Missense_G1295C exm52201 1 43894055 [A/G] NM_015284 SZT2 EXON Missense_H1298R exm52209 1 43895417 [T/C] NM_015284 SZT2 EXON Missense_R1347C exm52210 1 43895418 [A/G] NM_015284 SZT2 EXON Missense_R1347H exm52212 1 43895462 [G/C] NM_015284 SZT2 EXON Missense_D1362H exm52217 1 43895715 [T/C] NM_015284 SZT2 EXON Missense_R1391C exm52232 1 43896217 [A/G] NM_015284 SZT2 EXON Missense_V1454I 1:43896327-GT 1 43896327 [T/G] NM_015284 SZT2 EXON Missense_L1490F 1:43896403-GA 1 43896403 [A/G] NM_015284 SZT2 EXON Missense_V1516M exm52243 1 43896413 [A/G] NM_015284 SZT2 EXON Missense_R1519H 1:43896737-CT 1 43896737 [T/C] NM_015284 SZT2 EXON Missense_T1574M exm52248 1 43896743 [T/C] NM_015284 SZT2 EXON Missense_S1576L 1:43896940-AG 1 43896940 [A/G] NM_015284 SZT2 EXON Missense_T1584A 1:43896982-CT 1 43896982 [T/C] NM_015284 SZT2 EXON Missense_P1598S exm52256 1 43897181 [T/C] NM_015284 SZT2 EXON Missense_T1635I 1:43897463-GA 1 43897463 [A/G] NM_015284 SZT2 EXON Missense_R1665H exm52264 1 43897496 [A/G] NM_015284 SZT2 EXON Missense_R1676H exm52266 1 43897549 [T/C] NM_015284 SZT2 EXON Missense_R1694C exm52275 1 43898013 [T/C] NM_015284 SZT2 EXON Missense_A1725V exm52276 1 43898040 [A/G] NM_015284 SZT2 EXON Missense_H1734R exm52277 1 43898045 [A/G] NM_015284 SZT2 EXON Missense_E1736K 1:43898243-CT 1 43898243 [T/C] NM_015284 SZT2 EXON Missense_P1776L exm52282 1 43898260 [T/C] NM_015284 SZT2 EXON Missense_R1782C exm52285 1 43898403 [T/G] NM_015284 SZT2 EXON Missense_S1788R exm52286 1 43898419 [T/C] NM_015284 SZT2 EXON Missense_R1794W 1:43898699-CT 1 43898699 [T/C] NM_015284 SZT2 EXON Missense_P1824L 1:43898836-CT 1 43898836 [T/C] NM_015284 SZT2 EXON Missense_R1870C exm52305 1 43900065 [T/C] NM_015284 SZT2 EXON Missense_I1881T 1:43900072-GT 1 43900072 [T/G] NM_015284 SZT2 EXON Missense_E1883D exm52311 1 43900872 [A/G] NM_015284 SZT2 EXON Missense_R1912Q 1:43900909-TA 1 43900909 [T/A] NM_015284 SZT2 EXON Nonsense_C1924X rs2842180 1 43901916 [T/C] NM_015284 SZT2 Silent exm52321 1 43902884 [A/C] NM_015284 SZT2 EXON Missense_A1969E 1:43903125-GA 1 43903125 [A/G] NM_015284 SZT2 EXON Missense_R2022Q exm52325 1 43903318 [G/C] NM_015284 SZT2 EXON Missense_P2058A rs149812437 1 43903355 [A/T] NM_015284 SZT2 EXON Missense_Y2070F ilmnseq_rs149812437_ilmndup1 1 43903355 [A/T] NM_015284 SZT2 EXON Missense_Y2070F exm52328 1 43903355 [A/T] NM_015284 SZT2 EXON Missense_Y2070F var_1_43903373 1 43903373 [T/C] NM_015284 SZT2 Silent exm52337 1 43904393 [A/G] NM_015284 SZT2 EXON Missense_V2121M 1:43904741-AG 1 43904741 [A/G] NM_015284 SZT2 EXON Missense_S2200G exm52359 1 43905375 [A/G] NM_015284 SZT2 EXON Missense_R2269Q exm52368 1 43906169 [A/G] NM_015284 SZT2 EXON Missense_R2362Q exm52380 1 43907176 [T/C] NM_015284 SZT2 EXON Missense_R2448C exm52383 1 43907225 [T/C] NM_015284 SZT2 EXON Missense_V2464A rs150113647 1 43907225 [T/C] NM_015284 SZT2 EXON Missense_V2464A exm52385 1 43907236 [A/G] NM_015284 SZT2 EXON Missense_V2468I 1:43907416-AG 1 43907416 [A/G] NM_015284 SZT2 EXON Missense_I2500V exm52393 1 43907434 [A/G] NM_015284 SZT2 EXON Missense_A2506T 1:43907455-GA 1 43907455 [A/G] NM_015284 SZT2 EXON Missense_G2513R 1:43907745-GA 1 43907745 [A/G] NM_015284 SZT2 EXON Missense_R2549Q 1:43908222-TC 1 43908222 [T/C] NM_015284 SZT2 EXON Missense_L2638P exm1812365 1 43908279 [A/G] NM_015284 SZT2 EXON Missense_R2657Q exm52413 1 43908515 [C/G] NM_015284 SZT2 EXON Missense_T2669S exm52415 1 43908593 [A/G] NM_015284 SZT2 EXON Missense_R2695H rs41270357 1 43908787 [A/G] NM_015284 SZT2 Silent 1:43908898-CT 1 43908898 [T/C] NM_015284 SZT2 EXON Missense_T2763I 1:43909265-T-C 1 43909265 [T/C] NM_015284 SZT2 Silent exm52436 1 43909278 [A/G] NM_015284 SZT2 EXON Missense_R2822H exm52439 1 43909344 [T/C] NM_015284 SZT2 EXON Missense_P2844L JHU_1.43909650 1 43909651 [C/G] NM_015284 SZT2 Silent exm52444 1 43911579 [A/G] NM_015284 SZT2 EXON Missense_R2890Q exm52445 1 43911587 [A/G] NM_015284 SZT2 EXON Missense_A2893T exm52448 1 43911874 [T/A] NM_015284 SZT2 EXON Missense_Y2924N 1:43911877-CT 1 43911877 [T/C] NM_015284 SZT2 EXON Missense_H2925Y 1:43912725-GA 1 43912725 [A/G] NM_015284 SZT2 EXON Missense_V3001M rs41270361 1 43913195 [T/C] NM_015284 SZT2 Silent 1:43913360-CT 1 43913360 [T/C] NM_015284 SZT2 EXON Missense_A3087V exm52468 1 43913531 [A/G] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_Y3094C,Silent Variant37887 1 43913762 [T/C] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Synonymous_F3135F,Silent 1:43913814-CT 1 43913814 [T/C] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_R3153C,Silent chr1_43913815 1 43913815 [A/G] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_R3153H,Silent 1:43913932-CA 1 43913932 [A/C] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_P3192Q,Silent exm52482 1 43913968 [A/G] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_R3204Q,Silent chr1_43913985 1 43913985 [T/C] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_R3210W,Silent exm52486 1 43914120 [T/C] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_H3255Y,Silent 1:43914127-AG 1 43914127 [A/G] NM_015284,NR_046744 SZT2,SZT2-AS1 EXON Missense_K3257R,Silent 1:43916140-CT 1 43916140 [T/C] NM_015284 SZT2 EXON Missense_R3373C 1:43916931-CA 1 43916931 [A/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_G296V,Silent,Silent,Missense_G271V exm52520 1 43916935 [A/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_R295W,Silent,Silent,Missense_R270W exm52521 1 43916939 [A/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_D293E,Silent,Silent,Missense_D268E 1:43917036-TC 1 43917036 [T/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Silent,Silent,Silent,Silent indel.2925 1 43917074 [I/D] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON exm52524 1 43917083 [T/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_R278Q,Silent,Silent,Missense_R253Q 1:43917093-TACTC-T 1 43917093 [D/I] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON exm52526 1 43917098 [C/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_C273S,Silent,Silent,Missense_C248S rs189883688 1 43917340 [A/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_R227W,Missense_R202W,Missense_R227W,Missense_R202W exm52539 1 43917469 [A/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_M210I,Missense_M185I,Missense_M210I,Missense_M185I var_1_43917504 1 43917504 [A/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Nonsense_Q199X,Nonsense_Q174X,Nonsense_Q199X,Nonsense_Q174X exm52544 1 43917518 [A/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_A194V,Missense_A169V,Missense_A194V,Missense_A169V exm52557 1 43917895 [C/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_A161G,Missense_A136G,Missense_A161G,Missense_A136G 1:43917965-GA 1 43917965 [A/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_P138S,Missense_P113S,Missense_P138S,Missense_P113S rs79857390 1 43918729 [A/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Silent,Silent,Silent,Silent exm52566 1 43919066 [T/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Silent,Missense_G101D,Silent,Missense_G101D 1:43919073-CA 1 43919073 [A/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Silent,Missense_A99S,Silent,Missense_A99S 1:43919084-CA 1 43919084 [A/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_R95L,Missense_R95L,Missense_R95L,Missense_R95L 1:43919085-GA 1 43919085 [A/G] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_R95W,Missense_R95W,Missense_R95W,Missense_R95W 1:43919088-CT 1 43919088 [T/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_V94M,Missense_V94M,Missense_V94M,Missense_V94M 1:43919091-CT 1 43919091 [T/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_A93T,Missense_A93T,Missense_A93T,Missense_A93T 1:43919115-CT 1 43919115 [T/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_A85T,Missense_A85T,Missense_A85T,Missense_A85T 1:43919155-CA 1 43919155 [A/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_K71N,Missense_K71N,Missense_K71N,Missense_K71N 1:43919443-CA 1 43919443 [A/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_A8S,Missense_A8S,Missense_A8S,Missense_A8S 1:43919451-CA 1 43919451 [A/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Missense_R5L,Missense_R5L,Missense_R5L,Missense_R5L JHU_1.43919551 1 43919552 [T/C] NM_015284,NM_001330526,NM_031207,NM_001243526,NM_001190880 SZT2,HYI,HYI,HYI,HYI EXON Silent,Silent,Silent,Silent,Silent JHU_1.43919725 1 43919726 [T/C] NM_015284 SZT2 EXON Silent rs1334973 1 43921384 [T/G] rs115640664 1 43938252 [T/A] rs7413861 1 43938801 [A/C] JHU_1.43946716 1 43946717 [T/C] JHU_1.43950264 1 43950265 [G/C] rs2039529 1 43960479 [A/G] rs72671139 1 43960607 [T/G] rs12240014 1 43963910 [T/C] JHU_1.43966611 1 43966612 [A/C] rs116962022 1 43969533 [T/A] rs882464 1 43974764 [T/G] rs75852459 1 43977666 [A/G] rs11210858 1 43978837 [T/C] JHU_1.43980618 1 43980619 [T/C] rs78264954 1 43981101 [T/C] JHU_1.43985354 1 43985355 [T/C] rs72887223 1 43986445 [T/C] JHU_1.43989418 1 43989419 [A/G] JHU_1.43996446 1 43996447 [A/G] NM_001329138,NM_001329137 PTPRF,PTPRF Silent,Silent JHU_1.44005440 1 44005441 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs146393331 1 44005788 [G/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs1889587 1 44005928 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs2782639 1 44006339 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs114645329 1 44007308 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs2842189 1 44007648 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44008238 1 44008239 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs113024100 1 44008661 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44008660 1 44008661 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent 1:44010793-CT 1 44010793 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_P16L,Missense_P16L,Missense_P16L,Missense_P16L,Missense_P16L,Missense_P16L 1:44010825-GA 1 44010825 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_A27T,Missense_A27T,Missense_A27T,Missense_A27T,Missense_A27T,Missense_A27T rs74071962 1 44011414 [A/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs74071968 1 44013641 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44013876 1 44013877 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs79705791 1 44017874 [C/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent 1:44019240-AG 1 44019240 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_T57A,Missense_T57A,Missense_T57A,Missense_T57A,Missense_T57A,Missense_T57A rs202216979 1 44019507 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_R92W,Missense_R92W,Missense_R92W,Missense_R92W,Missense_R92W,Missense_R92W JHU_1.44022338 1 44022339 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44022828 1 44022829 [G/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs11580074 1 44024484 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs72637951 1 44030416 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs7349097 1 44034135 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs1065771 1 44035352 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Synonymous_A157A,Synonymous_A157A,Synonymous_A157A,Synonymous_A157A,Synonymous_A157A,Synonymous_A157A exm52606 1 44035417 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_T179M,Missense_T179M,Missense_T179M,Missense_T179M,Missense_T179M,Missense_T179M rs11210873 1 44036659 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs151027987 1 44038875 [G/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44039547 1 44039548 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs145218879 1 44042463 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs77696512 1 44042589 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent 1:44044751-CT 1 44044751 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent 1:44044768-GA 1 44044768 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent 1:44044865-GA 1 44044865 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent 1:44044934-CT 1 44044934 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent 1:44045010-A-G 1 44045010 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs752963 1 44045294 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs10789437 1 44050747 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs139918418 1 44054368 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent exm52631 1 44054572 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_V294I,Missense_V290I,Missense_V284I,Missense_V284I,Missense_V284I,Missense_V284I 1:44054636-GA 1 44054636 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_G315D,Missense_G311D,Missense_G305D,Missense_G305D,Missense_G305D,Missense_G305D exm2264830 1 44054994 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent exm52641 1 44056756 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_R365C,Missense_R361C,Missense_R355C,Missense_R355C,Missense_R355C,Missense_R355C exm52642 1 44056759 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_A366S,Missense_A362S,Missense_A356S,Missense_A356S,Missense_A356S,Missense_A356S exm52643 1 44056763 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_A367V,Missense_A363V,Missense_A357V,Missense_A357V,Missense_A357V,Missense_A357V rs3748795 1 44056806 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Synonymous_T381T,Synonymous_T377T,Synonymous_T371T,Synonymous_T371T,Synonymous_T371T,Synonymous_T371T rs3748796 1 44057042 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_Y460C,Missense_Y456C,Missense_Y450C,Missense_Y450C,Missense_Y450C,Missense_Y450C exm52657 1 44057042 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_Y460C,Missense_Y456C,Missense_Y450C,Missense_Y450C,Missense_Y450C,Missense_Y450C 1:44057069-CT 1 44057069 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_P469L,Missense_P465L,Missense_P459L,Missense_P459L,Missense_P459L,Missense_P459L 1:44057116-GA 1 44057116 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_V485M,Missense_V481M,Missense_V475M,Missense_V475M,Missense_V475M,Missense_V475M 1:44057170-GA 1 44057170 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_A503T,Missense_A499T,Missense_A493T,Missense_A493T,Missense_A493T,Missense_A493T exm52671 1 44057497 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_A526T,Missense_A522T,Missense_A516T,Missense_A516T,Missense_A516T,Missense_A516T exm52673 1 44057543 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_S541L,Missense_S537L,Missense_S531L,Missense_S531L,Missense_S531L,Missense_S531L 1:44057549-T-TG 1 44057549 [D/I] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON exm52682 1 44058143 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_D572N,Missense_D568N,Missense_D562N,Missense_D562N,Missense_D562N,Missense_D562N 1:44058195-GA 1 44058195 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_R589H,Missense_R585H,Missense_R579H,Missense_R579H,Missense_R579H,Missense_R579H exm52690 1 44058233 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_V602I,Missense_V598I,Missense_V592I,Missense_V592I,Missense_V592I,Missense_V592I JHU_1.44059158 1 44059159 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs115180661 1 44061730 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44062826 1 44062827 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent 1:44063508-CT 1 44063508 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_R635C,Silent,Missense_R635C,Silent rs17849101 1 44063508 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_R635C,Silent,Missense_R635C,Silent 1:44063566-GA 1 44063566 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_R654H,Silent,Missense_R654H,Silent 1:44063595-CA 1 44063595 [A/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_R664S,Silent,Missense_R664S,Silent 1:44063609-CA 1 44063609 [A/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_S668R,Silent,Missense_S668R,Silent 1:44063658-CT 1 44063658 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_R685W,Silent,Missense_R685W,Silent exm1812668 1 44063670 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_D689Y,Silent,Missense_D689Y,Silent 1:44064520-GA 1 44064520 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_R658Q,Missense_R654Q,Missense_R750Q,Missense_R648Q,Missense_R750Q,Missense_R648Q exm52718 1 44064534 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_E663K,Missense_E659K,Missense_E755K,Missense_E653K,Missense_E755K,Missense_E653K rs596522 1 44066424 [A/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs190431418 1 44068869 [C/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent 1:44069109-CT 1 44069109 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_T696I,Missense_T692I,Missense_T779I,Missense_T677I,Missense_T788I,Missense_T686I 1:44069150-AG 1 44069150 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_T710A,Missense_T706A,Missense_T793A,Missense_T691A,Missense_T802A,Missense_T700A 1:44069175-AG 1 44069175 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_K718R,Missense_K714R,Missense_K801R,Missense_K699R,Missense_K810R,Missense_K708R 1:44069419-AG 1 44069419 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_N857D,Silent,Missense_N866D,Silent exm52745 1 44069425 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_I859V,Silent,Missense_I868V,Silent exm52748 1 44069464 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_G872S,Silent,Missense_G881S,Silent exm52750 1 44069495 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_R882L,Silent,Missense_R891L,Silent exm52758 1 44069636 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_P929L,Silent,Missense_P938L,Silent exm52759 1 44069648 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_A933V,Silent,Missense_A942V,Silent exm52765 1 44069776 [G/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_D976H,Silent,Missense_D985H,Silent rs142730107 1 44069810 [A/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Silent,Silent,Missense_S987Y,Silent,Missense_S996Y,Silent 1:44070878-GT 1 44070878 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_Q766H,Missense_Q762H,Missense_Q1042H,Missense_Q747H,Missense_Q1051H,Missense_Q756H 1:44070972-AG 1 44070972 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_S798G,Missense_S794G,Missense_S1074G,Missense_S779G,Missense_S1083G,Missense_S788G exm52784 1 44071105 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_S842L,Missense_S838L,Missense_S1118L,Missense_S823L,Missense_S1127L,Missense_S832L rs75135460 1 44071618 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44071852 1 44071853 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent 1:44071938-GA 1 44071938 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_E886K,Missense_E882K,Missense_E1162K,Missense_E867K,Missense_E1171K,Missense_E876K 1:44071978-AG 1 44071978 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_K899R,Missense_K895R,Missense_K1175R,Missense_K880R,Missense_K1184R,Missense_K889R exm52807 1 44072122 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_M947T,Missense_M943T,Missense_M1223T,Missense_M928T,Missense_M1232T,Missense_M937T rs539096 1 44072420 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent exm52811 1 44072558 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_P974L,Missense_P970L,Missense_P1250L,Missense_P955L,Missense_P1259L,Missense_P964L variant.2941 1 44072641 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent exm52815 1 44075054 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Synonymous_R1005R,Synonymous_R997R,Synonymous_R1277R,Synonymous_R982R,Synonymous_R1286R,Synonymous_R991R rs11210887 1 44076019 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent 1:44078460-CT 1 44078460 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_P1051L,Missense_P1043L,Silent,Silent,Silent,Missense_P1037L JHU_1.44078788 1 44078789 [A/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent rs57214956 1 44082322 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent exm52830 1 44083200 [T/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_A1116S,Missense_A1108S,Missense_A1377S,Missense_A1082S,Missense_A1386S,Missense_A1102S 1:44083409-GA 1 44083409 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_V1130I,Missense_V1122I,Missense_V1391I,Missense_V1096I,Missense_V1400I,Missense_V1116I chr1_44083554 1 44083554 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_M1178T,Missense_M1170T,Missense_M1439T,Missense_M1144T,Missense_M1448T,Missense_M1164T rs78168631 1 44084108 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF Silent,Silent,Silent,Silent,Silent,Silent seq-rs70937045 1 44084819 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_R1261Q,Missense_R1253Q,Missense_R1522Q,Missense_R1227Q,Missense_R1531Q,Missense_R1247Q exm1812727 1 44084819 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_R1261Q,Missense_R1253Q,Missense_R1522Q,Missense_R1227Q,Missense_R1531Q,Missense_R1247Q 1:44084858-TC 1 44084858 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_M1274T,Missense_M1266T,Missense_M1535T,Missense_M1240T,Missense_M1544T,Missense_M1260T 1:44084871-CA 1 44084871 [A/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Nonsense_C1278X,Nonsense_C1270X,Nonsense_C1539X,Nonsense_C1244X,Nonsense_C1548X,Nonsense_C1264X 1:44084972-CT 1 44084972 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_R1284C,Missense_R1276C,Missense_R1545C,Missense_R1250C,Missense_R1554C,Missense_R1270C exm2233430 1 44084975 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_T1285A,Missense_T1277A,Missense_T1546A,Missense_T1251A,Missense_T1555A,Missense_T1271A exm52867 1 44085167 [T/A] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_N1349Y,Missense_N1341Y,Missense_N1610Y,Missense_N1315Y,Missense_N1619Y,Missense_N1335Y exm52868 1 44085173 [T/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_Y1351H,Missense_Y1343H,Missense_Y1612H,Missense_Y1317H,Missense_Y1621H,Missense_Y1337H exm52869 1 44085194 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_G1358S,Missense_G1350S,Missense_G1619S,Missense_G1324S,Missense_G1628S,Missense_G1344S exm52880 1 44085844 [A/C] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_H1460Q,Missense_H1452Q,Missense_H1721Q,Missense_H1426Q,Missense_H1730Q,Missense_H1446Q 1:44086845-AG 1 44086845 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_D1596G,Missense_D1588G,Missense_D1857G,Missense_D1562G,Missense_D1866G,Missense_D1582G 1:44087616-AG 1 44087616 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_Q1619R,Missense_Q1611R,Missense_Q1880R,Missense_Q1585R,Missense_Q1889R,Missense_Q1605R exm52908 1 44087628 [A/G] NM_001329138,NM_001329137,NM_130440,NM_001329140,NM_002840,NM_001329139 PTPRF,PTPRF,PTPRF,PTPRF,PTPRF,PTPRF EXON Missense_R1623H,Missense_R1615H,Missense_R1884H,Missense_R1589H,Missense_R1893H,Missense_R1609H rs116014152 1 44099164 [A/C] rs11210892 1 44100084 [A/G] rs116018817 1 44106555 [T/G] JHU_1.44110655 1 44110656 [T/C] rs144829045 1 44111947 [A/G] JHU_1.44113155 1 44113156 [A/G] JHU_1.44114437 1 44114438 [A/C] rs660899 1 44117006 [T/G] NM_014663 KDM4A Silent exm52919 1 44118920 [A/G] NM_014663 KDM4A EXON Missense_R25Q chr1_44118928 1 44118928 [A/G] NM_014663 KDM4A EXON Missense_S28G exm52927 1 44121415 [T/C] NM_014663 KDM4A EXON Missense_R98C rs2274465 1 44121557 [C/G] NM_014663 KDM4A Silent rs371261791 1 44121956 [A/G] NM_014663 KDM4A Silent rs10789439 1 44123191 [T/C] NM_014663 KDM4A Silent 1:44124688-T-C 1 44124688 [T/C] NM_014663 KDM4A Silent exm52932 1 44125982 [T/C] NM_014663 KDM4A EXON Missense_R110C JHU_1.44127305 1 44127306 [A/G] NM_014663 KDM4A Silent rs36049844 1 44129604 [T/C] NM_014663 KDM4A Silent rs669446 1 44129779 [A/G] NM_014663 KDM4A Silent rs489319 1 44131794 [T/C] NM_014663 KDM4A Silent indel.2942 1 44132130 [D/I] NM_014663 KDM4A EXON rs78418435 1 44132744 [T/C] NM_014663 KDM4A EXON Synonymous_Y299Y exm52959 1 44133567 [T/C] NM_014663 KDM4A EXON Missense_T347M exm52961 1 44133647 [A/G] NM_014663 KDM4A EXON Missense_M374V 1:44134806-GA 1 44134806 [A/G] NM_014663 KDM4A EXON Missense_R400Q exm52965 1 44134887 [T/C] NM_014663 KDM4A EXON Missense_M427T rs586339 1 44137257 [A/C] NM_014663 KDM4A EXON Missense_A482E exm52969 1 44137257 [A/C] NM_014663 KDM4A EXON Missense_A482E 1:44137274-CT 1 44137274 [T/C] NM_014663 KDM4A EXON Missense_L488F exm52971 1 44137290 [T/C] NM_014663 KDM4A EXON Missense_A493V exm52974 1 44137315 [C/G] NM_014663 KDM4A EXON Missense_F501L exm52980 1 44137373 [A/G] NM_014663 KDM4A EXON Missense_I521V 1:44137511-GA 1 44137511 [A/G] NM_014663 KDM4A EXON Missense_A567T JHU_1.44147611 1 44147612 [T/A] NM_014663 KDM4A Silent rs61768373 1 44148499 [C/G] NM_014663 KDM4A Silent rs4660740 1 44148617 [A/G] NM_014663 KDM4A Silent exm52988 1 44149406 [T/C] NM_014663 KDM4A EXON Missense_R596C 1:44149423-CA 1 44149423 [A/C] NM_014663 KDM4A EXON Missense_S601R var_1_44149475 1 44149475 [T/G] NM_014663 KDM4A EXON Nonsense_E619X rs6697354 1 44151015 [T/G] NM_014663 KDM4A Silent rs61768375 1 44153132 [T/C] NM_014663 KDM4A Silent exm52992 1 44154651 [C/G] NM_014663 KDM4A EXON Missense_S641T exm53008 1 44156705 [A/G] NM_014663 KDM4A EXON Missense_V743I JHU_1.44156821 1 44156822 [T/C] NM_014663 KDM4A Silent rs7553982 1 44159431 [T/C] NM_014663 KDM4A Silent variant.2944 1 44160565 [A/G] NM_014663 KDM4A EXON Synonymous_E890E rs114361356 1 44161275 [A/G] NM_014663 KDM4A Silent 1:44168233-G-A 1 44168233 [A/G] NM_014663,NR_033827 KDM4A,KDM4A-AS1 Silent,Silent exm53032 1 44169691 [A/G] NM_014663,NR_033827 KDM4A,KDM4A-AS1 EXON Missense_V988M,Silent 1:44173008-C-A 1 44173008 [A/C] NR_033827 KDM4A-AS1 EXON Silent rs114191001 1 44173617 [T/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7528454 1 44174081 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44198123 1 44198124 [G/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44198296 1 44198297 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44199422 1 44199423 [T/A] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:44201971-C-A 1 44201971 [A/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Missense_A13D,Missense_A13D,Missense_A13D,Missense_A13D,Missense_A13D,Missense_A13D,Missense_A13D,Silent,Missense_A13D,Missense_A13D,Missense_A13D,Silent,Missense_A13D,Missense_A13D,Silent,Silent,Missense_A13D,Missense_A13D,Silent,Silent,Silent,Missense_A13D,Silent,Missense_A13D,Missense_A13D,Missense_A13D,Silent,Missense_A13D,Missense_A13D,Missense_A13D exm2251787 1 44202014 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A exm53042 1 44202014 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A exm53045 1 44202061 [C/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Missense_S43T,Missense_S43T,Silent,Silent,Missense_S43T,Silent,Silent,Silent,Silent,Silent,Missense_S43T,Silent,Silent,Silent,Silent,Silent,Missense_S43T,Missense_S43T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs147330005 1 44202061 [C/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Missense_S43T,Missense_S43T,Silent,Silent,Missense_S43T,Silent,Silent,Silent,Silent,Silent,Missense_S43T,Silent,Silent,Silent,Silent,Silent,Missense_S43T,Missense_S43T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1472661 1 44209075 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44209525 1 44209526 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44215832 1 44215833 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115936160 1 44222386 [A/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12747687 1 44225691 [T/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44231486 1 44231487 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44235133 1 44235134 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44237780 1 44237781 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7546818 1 44245670 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44249077 1 44249078 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7538822 1 44250212 [A/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77829827 1 44252259 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3791050 1 44252546 [A/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3791051 1 44252908 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44256970 1 44256971 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs148531289 1 44257821 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11210924 1 44261195 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs975761 1 44264435 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44264784 1 44264785 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs246776 1 44274699 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs80204008 1 44276072 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44287147 1 44287148 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs641356 1 44287186 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44287365 1 44287366 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53051 1 44290403 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Synonymous_L85L,Synonymous_L70L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L70L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L54L,Silent,Silent,Silent,Silent,Silent,Silent 1:44290423-CT 1 44290423 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_T92M,Missense_T77M,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T77M,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T61M,Silent,Silent,Silent,Silent,Silent,Silent 1:44303916-GA 1 44303916 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Missense_A94T,Missense_A148T,Missense_A133T,Missense_A79T,Missense_A94T,Missense_A79T,Silent,Silent,Missense_A79T,Missense_A63T,Missense_A78T,Silent,Missense_A63T,Missense_A133T,Silent,Silent,Missense_A94T,Missense_A78T,Silent,Silent,Silent,Missense_A63T,Silent,Missense_A117T,Missense_A63T,Missense_A79T,Silent,Missense_A63T,Silent,Missense_A79T rs78053317 1 44319092 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3011225 1 44319373 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44322199 1 44322200 [G/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44322402 1 44322403 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3828142 1 44326670 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44327716 1 44327717 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74655528 1 44335071 [C/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs145852449 1 44335348 [T/A] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44337870 1 44337871 [G/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs78853081 1 44338765 [C/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs192137433 1 44341473 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44342531 1 44342532 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2527776 1 44345292 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44351121 1 44351122 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16831373 1 44355562 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs145128132 1 44358076 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53063 1 44360055 [T/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Synonymous_R116R,Synonymous_R170R,Synonymous_R155R,Synonymous_R101R,Synonymous_R116R,Synonymous_R101R,Synonymous_L54L,Silent,Synonymous_R101R,Synonymous_R85R,Synonymous_R100R,Silent,Silent,Synonymous_R155R,Silent,Silent,Synonymous_R116R,Synonymous_R100R,Missense_R8S,Silent,Silent,Synonymous_R85R,Silent,Synonymous_R139R,Synonymous_R85R,Synonymous_R101R,Silent,Synonymous_R85R,Synonymous_L70L,Synonymous_R101R exm53065 1 44360114 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Missense_R136Q,Missense_R190Q,Missense_R175Q,Missense_R121Q,Missense_R136Q,Missense_R121Q,Missense_R74Q,Silent,Missense_R121Q,Missense_R105Q,Missense_R120Q,Silent,Silent,Missense_R175Q,Silent,Silent,Missense_R136Q,Missense_R120Q,Missense_R28Q,Silent,Silent,Missense_R105Q,Silent,Missense_R159Q,Missense_R105Q,Missense_R121Q,Silent,Missense_R105Q,Missense_R90Q,Missense_R121Q rs140685423 1 44362873 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44363753 1 44363754 [A/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53069 1 44363909 [T/A] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_N203Y,Missense_N188Y,Missense_N134Y,Missense_N149Y,Silent,Missense_N87Y,Silent,Missense_N134Y,Missense_N118Y,Missense_N133Y,Silent,Silent,Missense_N188Y,Silent,Silent,Missense_N149Y,Missense_N133Y,Missense_N41Y,Silent,Silent,Missense_N118Y,Silent,Missense_N172Y,Missense_N118Y,Missense_N134Y,Silent,Silent,Missense_N103Y,Missense_N134Y rs201834329 1 44363909 [T/A] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_N203Y,Missense_N188Y,Missense_N134Y,Missense_N149Y,Silent,Missense_N87Y,Silent,Missense_N134Y,Missense_N118Y,Missense_N133Y,Silent,Silent,Missense_N188Y,Silent,Silent,Missense_N149Y,Missense_N133Y,Missense_N41Y,Silent,Silent,Missense_N118Y,Silent,Missense_N172Y,Missense_N118Y,Missense_N134Y,Silent,Silent,Missense_N103Y,Missense_N134Y exm2251792 1 44365273 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Synonymous_R275R,Synonymous_R260R,Synonymous_R206R,Synonymous_R221R,Silent,Synonymous_R159R,Silent,Synonymous_R206R,Synonymous_R190R,Silent,Silent,Silent,Synonymous_R260R,Silent,Silent,Synonymous_R221R,Silent,Synonymous_R113R,Silent,Silent,Synonymous_R190R,Silent,Synonymous_R244R,Silent,Synonymous_R206R,Silent,Silent,Synonymous_R175R,Synonymous_R206R rs3791101 1 44366250 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs114024366 1 44367075 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44371444 1 44371445 [A/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44373705 1 44373706 [C/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6674176 1 44379957 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs376517666 1 44380450 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44383122 1 44383123 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53083 1 44386079 [C/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_A319P,Silent,Silent,Missense_A265P,Silent,Silent,Silent,Missense_A250P,Silent,Silent,Silent,Silent,Missense_A304P,Silent,Silent,Missense_A265P,Silent,Missense_A157P,Silent,Silent,Missense_A234P,Silent,Missense_A288P,Silent,Missense_A250P,Silent,Silent,Missense_A219P,Silent 1:44386084-GA 1 44386084 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Synonymous_S320S,Silent,Silent,Synonymous_S266S,Silent,Silent,Silent,Synonymous_S251S,Silent,Silent,Silent,Silent,Synonymous_S305S,Silent,Silent,Synonymous_S266S,Silent,Synonymous_S158S,Silent,Silent,Synonymous_S235S,Silent,Synonymous_S289S,Silent,Synonymous_S251S,Silent,Silent,Synonymous_S220S,Silent exm53086 1 44386113 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Missense_R330Q,Silent,Silent,Missense_R276Q,Silent,Silent,Silent,Missense_R261Q,Silent,Silent,Silent,Silent,Missense_R315Q,Silent,Silent,Missense_R276Q,Silent,Missense_R168Q,Silent,Silent,Missense_R245Q,Silent,Missense_R299Q,Silent,Missense_R261Q,Silent,Silent,Missense_R230Q,Silent 1:44386153-AG 1 44386153 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Silent,Synonymous_P343P,Silent,Silent,Synonymous_P289P,Silent,Silent,Silent,Synonymous_P274P,Silent,Silent,Silent,Silent,Synonymous_P328P,Silent,Silent,Synonymous_P289P,Silent,Synonymous_P181P,Silent,Silent,Synonymous_P258P,Silent,Synonymous_P312P,Silent,Synonymous_P274P,Silent,Silent,Synonymous_P243P,Silent rs3120803 1 44386615 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16831424 1 44387353 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4031031 1 44393533 [T/C] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53109 1 44395835 [A/T] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Missense_R158S,Missense_E426V,Missense_E313V,Missense_E259V,Missense_E372V,Missense_R143S,Missense_E212V,Silent,Missense_E357V,Missense_E243V,Missense_S196C,Silent,Missense_S96C,Missense_E411V,Silent,Silent,Missense_R437S,Silent,Missense_R329S,Silent,Silent,Missense_E341V,Silent,Missense_E395V,Missense_S181C,Missense_R422S,Silent,Missense_R127S,Missense_E326V,Missense_E327V 1:44395844-GA 1 44395844 [A/G] NM_174965,NM_174963,NM_001363573,NM_174966,NM_174964,NM_174967,NM_001270462,NR_073020,NM_006279,NM_001270461,NM_001270463,NR_146867,NM_001270466,NM_174968,NR_073019,NR_073017,NM_001350619,NM_001270465,NM_001350621,NR_073021,NR_073016,NM_174969,NR_073023,NM_174971,NM_001270464,NM_001350620,NR_073018,NM_174970,NM_001270460,NM_001270459 ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3,ST3GAL3 EXON Synonymous_A161A,Missense_R429Q,Missense_R316Q,Missense_R262Q,Missense_R375Q,Synonymous_A146A,Missense_R215Q,Silent,Missense_R360Q,Missense_R246Q,Missense_G199R,Silent,Missense_G99R,Missense_R414Q,Silent,Silent,Synonymous_A440A,Silent,Synonymous_A332A,Silent,Silent,Missense_R344Q,Silent,Missense_R398Q,Missense_G184R,Synonymous_A425A,Silent,Synonymous_A130A,Missense_R329Q,Missense_R330Q JHU_1.44396994 1 44396995 [A/G] rs12726706 1 44399942 [A/G] NM_057091,NM_057090,NM_001136215 ARTN,ARTN,ARTN Silent,Silent,Silent rs139007680 1 44400128 [A/G] NM_057091,NM_057090,NM_001136215 ARTN,ARTN,ARTN Silent,Silent,Silent 1:44401342-TC 1 44401342 [T/C] NM_057091,NM_057090,NM_001136215 ARTN,ARTN,ARTN EXON Missense_L5P,Missense_L5P,Missense_L5P exm53118 1 44401353 [T/C] NM_057091,NM_057090,NM_001136215 ARTN,ARTN,ARTN EXON Missense_S9P,Missense_S9P,Missense_S9P exm53120 1 44401384 [A/G] NM_057091,NM_057090,NM_001136215 ARTN,ARTN,ARTN EXON Missense_Q19R,Missense_Q19R,Missense_Q19R 1:44401724-CA 1 44401724 [A/C] NM_057091,NM_057090,NM_001136215 ARTN,ARTN,ARTN Silent,Silent,Silent 1:44401781-CT 1 44401781 [T/C] NM_057091,NM_057090,NM_001136215 ARTN,ARTN,ARTN EXON Missense_T26I,Missense_T34I,Missense_T34I rs2428955 1 44414423 [T/C] NM_014652 IPO13 Silent 1:44415398-CT 1 44415398 [T/C] NM_014652 IPO13 EXON Missense_L132F 1:44415561-GA 1 44415561 [A/G] NM_014652 IPO13 EXON Missense_R186H exm53162 1 44415659 [T/C] NM_014652 IPO13 EXON Missense_R219C exm53165 1 44415735 [A/T] NM_014652 IPO13 EXON Missense_Q244L 1:44421996-GA 1 44421996 [A/G] NM_014652 IPO13 EXON Missense_V276M exm53169 1 44422051 [A/G] NM_014652 IPO13 EXON Missense_R294Q 1:44422081-CT 1 44422081 [T/C] NM_014652 IPO13 EXON Missense_T304I 1:44422566-CA 1 44422566 [A/C] NM_014652 IPO13 EXON Missense_L397I 1:44422958-AC 1 44422958 [A/C] NM_014652 IPO13 EXON Missense_T455P JHU_1.44424524 1 44424525 [A/G] NM_014652 IPO13 EXON Synonymous_E664E 1:44424529-CT 1 44424529 [T/C] NM_014652 IPO13 EXON Missense_R666W 1:44426605-AG 1 44426605 [A/G] NM_014652 IPO13 EXON Missense_M723V exm53213 1 44426636 [A/G] NM_014652 IPO13 EXON Missense_R733Q 1:44432214-TC 1 44432214 [T/C] NM_014652 IPO13 Silent exm53239 1 44433119 [C/G] NM_014652 IPO13 EXON Missense_A916P 1:44433269-AG 1 44433269 [A/G] NM_014652 IPO13 EXON Missense_N936S exm53246 1 44435905 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Silent,Missense_P20S,Silent,Silent,Silent,Missense_P20S,Silent,Silent,Missense_P20S 1:44436645-GT 1 44436645 [T/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Silent,Missense_V90L,Missense_V14L,Silent,Silent,Missense_V90L,Silent,Missense_V14L,Missense_V90L 1:44436720-GT 1 44436720 [T/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Silent,Missense_A115S,Missense_A39S,Silent,Silent,Missense_A115S,Silent,Missense_A39S,Missense_A115S 1:44436756-CT 1 44436756 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Silent,Missense_R127C,Missense_R51C,Silent,Silent,Missense_R127C,Silent,Missense_R51C,Missense_R127C exm53258 1 44436855 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Silent,Missense_A160T,Missense_A84T,Silent,Silent,Missense_A160T,Missense_M1I,Missense_A84T,Missense_A160T exm53259 1 44437086 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R36Q,Missense_R171Q,Missense_R95Q,Silent,Silent,Silent,Missense_R23Q,Missense_R95Q,Silent 1:44437203-GA 1 44437203 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R75H,Missense_R210H,Missense_R134H,Missense_R17H,Missense_R17H,Silent,Missense_R62H,Missense_R134H,Silent exm53265 1 44437266 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_D96G,Missense_D231G,Missense_D155G,Missense_D38G,Missense_D38G,Silent,Missense_D83G,Missense_D155G,Silent exm53267 1 44437298 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_A107T,Missense_A242T,Missense_A166T,Missense_A49T,Missense_A49T,Silent,Missense_A94T,Missense_A166T,Silent exm53268 1 44437361 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R128W,Missense_R263W,Missense_R187W,Missense_R70W,Missense_R70W,Silent,Missense_R115W,Missense_R187W,Missense_R172W exm1812892 1 44437418 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R147C,Missense_R282C,Missense_R206C,Missense_R89C,Missense_R89C,Silent,Missense_R134C,Missense_R206C,Missense_R191C exm53274 1 44437419 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R147H,Missense_R282H,Missense_R206H,Missense_R89H,Missense_R89H,Silent,Missense_R134H,Missense_R206H,Missense_R191H 1:44437463-CT 1 44437463 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R162C,Missense_R297C,Missense_R221C,Missense_R104C,Missense_R104C,Silent,Missense_R149C,Missense_R221C,Missense_R206C exm53283 1 44437629 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_G217D,Missense_G352D,Missense_G276D,Missense_G159D,Missense_G159D,Silent,Missense_G204D,Missense_G276D,Missense_G261D 1:44437719-CT 1 44437719 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_T247I,Missense_T382I,Missense_T306I,Missense_T189I,Missense_T189I,Silent,Missense_T234I,Missense_T306I,Missense_T291I exm53291 1 44437992 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_E309G,Missense_E444G,Missense_E368G,Missense_E251G,Missense_E251G,Missense_E216G,Missense_E296G,Missense_E368G,Missense_E353G exm53293 1 44438087 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_A314V,Missense_A449V,Missense_A373V,Missense_A256V,Missense_A256V,Missense_A221V,Missense_A301V,Missense_A373V,Missense_A358V 1:44438105-GA 1 44438105 [A/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R320Q,Missense_R455Q,Missense_R379Q,Missense_R262Q,Missense_R262Q,Missense_R227Q,Missense_R307Q,Missense_R379Q,Missense_R364Q exm53297 1 44438125 [C/G] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_P327A,Missense_P462A,Missense_P386A,Missense_P269A,Missense_P269A,Missense_P234A,Missense_P314A,Missense_P386A,Missense_P371A 1:44438128-CT 1 44438128 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Missense_R328C,Missense_R463C,Missense_R387C,Missense_R270C,Missense_R270C,Missense_R235C,Missense_R315C,Missense_R387C,Missense_R372C rs783308 1 44438396 [A/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7161 1 44438974 [T/C] NM_001319169,NM_001384,NM_001319165,NM_001319170,NM_001319167,NM_001039589,NM_001319171,NM_001319168,NM_001319166 DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2,DPH2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:44440914-GA 1 44440914 [A/G] NM_001294333,NM_004047,NM_001039457 ATP6V0B,ATP6V0B,ATP6V0B Silent,Silent,Silent exm53325 1 44442857 [C/G] NM_001294333,NM_004047,NM_001039457 ATP6V0B,ATP6V0B,ATP6V0B EXON Missense_G187A,Missense_G187A,Missense_G140A rs2428954 1 44442930 [A/G] NM_001294333,NM_004047,NM_001039457 ATP6V0B,ATP6V0B,ATP6V0B EXON Synonymous_Q211Q,Silent,Silent 1:44442997-CT 1 44442997 [T/C] NM_001294333,NM_004047,NM_001039457 ATP6V0B,ATP6V0B,ATP6V0B EXON Missense_P234S,Silent,Silent 1:44443049-GA 1 44443049 [A/G] NM_001294333,NM_004047,NM_001039457 ATP6V0B,ATP6V0B,ATP6V0B EXON Missense_G251D,Silent,Silent rs3762423 1 44445667 [T/C] NM_003780,NM_030587 B4GALT2,B4GALT2 EXON Silent,Silent JHU_1.44446334 1 44446335 [C/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 Silent,Silent,Silent 1:44446791-GA 1 44446791 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Silent,Missense_G16R,Silent exm53338 1 44446937 [T/C] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_Y35Y,Synonymous_Y64Y,Synonymous_Y35Y exm53347 1 44447064 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_G78R,Missense_G107R,Missense_G78R exm53353 1 44447413 [C/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_Q122H,Missense_Q151H,Missense_Q122H exm53360 1 44447579 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_V178I,Missense_V207I,Missense_V178I 1:44450607-CT 1 44450607 [T/C] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_A207V,Missense_A236V,Missense_A207V 1:44450686-AC 1 44450686 [A/C] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_Q233H,Missense_Q262H,Missense_Q233H JHU_1.44450913 1 44450914 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 Silent,Silent,Silent JHU_1.44451105 1 44451106 [C/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 Silent,Silent,Silent rs1061781 1 44451234 [T/C] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_I303I,Synonymous_I332I,Synonymous_I303I exm53380 1 44451245 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_R307H,Missense_R336H,Missense_R307H JHU_1.44451476 1 44451477 [T/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 Silent,Silent,Silent indel.2963 1 44456008 [D/I] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON exm53383 1 44456012 [T/C] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_D337D,Synonymous_D366D,Synonymous_D337D exm53385 1 44456078 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Synonymous_T359T,Synonymous_T388T,Synonymous_T359T 1:44456092-GA 1 44456092 [A/G] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON Missense_R364Q,Missense_R393Q,Missense_R364Q chr1_44457887 1 44457887 [T/G] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_A44S,Missense_A44S,Silent,Silent,Missense_A44S exm53404 1 44457957 [T/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_P67L,Missense_P67L,Silent,Silent,Missense_P67L exm1812960 1 44458301 [T/G] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_G137C,Missense_G137C,Silent,Missense_G4C,Missense_G150C indel.2975 1 44459613 [D/I] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON 1:44460802-CA 1 44460802 [A/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_H174N,Missense_H174N,Silent,Missense_H40N,Missense_H186N 1:44461274-GA 1 44461274 [A/G] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_R185H,Missense_R185H,Silent,Missense_R51H,Missense_R197H exm2233434 1 44461331 [G/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_P204R,Missense_P204R,Silent,Missense_P70R,Missense_P216R indel.2976 1 44461470 [D/I] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON indel.2977 1 44461479 [D/I] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON exm53433 1 44461485 [A/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_L220M,Missense_L220M,Silent,Missense_L86M,Missense_L232M exm53441 1 44461662 [T/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Synonymous_S250S,Missense_C252R,Silent,Missense_C118R,Missense_C264R exm53443 1 44461726 [A/G] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_E272K,Missense_R273Q,Silent,Missense_R139Q,Missense_R285Q 1:44461735-CT 1 44461735 [T/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_R275W,Missense_S276L,Silent,Missense_S142L,Missense_S288L exm53451 1 44461778 [G/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_G289A,Missense_R290S,Silent,Missense_R156S,Missense_R302S 1:44461788-GT 1 44461788 [T/G] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_Q292H,Missense_A294S,Silent,Missense_A160S,Missense_A306S exm53453 1 44461821 [A/G] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Synonymous_K303K,Missense_A305T,Silent,Missense_A171T,Missense_A317T exm53454 1 44461822 [T/C] NM_001349127,NM_152499,NR_146064,NM_001349129,NM_001349128 CCDC24,CCDC24,CCDC24,CCDC24,CCDC24 EXON Missense_P304S,Missense_A305V,Silent,Missense_A171V,Missense_A317V 1:44463276-CA 1 44463276 [A/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_A447S,Missense_A688S,Missense_A504S,Missense_A594S,Missense_A619S,Missense_A615S,Missense_A634S,Missense_A550S,Missense_A615S exm53465 1 44463309 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_G436S,Missense_G677S,Missense_G493S,Missense_G583S,Missense_G608S,Missense_G604S,Missense_G623S,Missense_G539S,Missense_G604S exm53469 1 44463398 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_A406V,Missense_A647V,Missense_A463V,Missense_A553V,Missense_A578V,Missense_A574V,Missense_A593V,Missense_A509V,Missense_A574V variant.2984 1 44463698 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3791125 1 44464454 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16831527 1 44465037 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53489 1 44466494 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_P383L,Missense_P567L,Missense_P383L,Missense_P473L,Missense_P498L,Missense_P494L,Missense_P513L,Missense_P429L,Missense_P494L 1:44466580-GA 1 44466580 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:44466582-CT 1 44466582 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:44466690-GA 1 44466690 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_A347V,Missense_A531V,Missense_A347V,Missense_A437V,Missense_A462V,Missense_A458V,Missense_A477V,Missense_A393V,Missense_A458V exm53502 1 44467117 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_P271L,Missense_P455L,Missense_P271L,Missense_P361L,Missense_P386L,Missense_P382L,Missense_P401L,Missense_P317L,Missense_P382L exm53507 1 44467259 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_V224I,Missense_V408I,Missense_V224I,Missense_V314I,Missense_V339I,Missense_V335I,Missense_V354I,Missense_V270I,Missense_V335I rs149105213 1 44467259 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_V224I,Missense_V408I,Missense_V224I,Missense_V314I,Missense_V339I,Missense_V335I,Missense_V354I,Missense_V270I,Missense_V335I rs148166342 1 44467986 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_R210W,Missense_R394W,Missense_R210W,Missense_R300W,Missense_R325W,Missense_R321W,Missense_R340W,Missense_R256W,Missense_R321W exm2233436 1 44467986 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_R210W,Missense_R394W,Missense_R210W,Missense_R300W,Missense_R325W,Missense_R321W,Missense_R340W,Missense_R256W,Missense_R321W rs2248829 1 44468235 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Synonymous_D158D,Synonymous_D342D,Synonymous_D158D,Synonymous_D248D,Synonymous_D273D,Synonymous_D269D,Synonymous_D288D,Synonymous_D204D,Synonymous_D269D 1:44468235-G-A 1 44468235 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Synonymous_D158D,Synonymous_D342D,Synonymous_D158D,Synonymous_D248D,Synonymous_D273D,Synonymous_D269D,Synonymous_D288D,Synonymous_D204D,Synonymous_D269D exm53530 1 44474098 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_A62T,Missense_A246T,Missense_A62T,Missense_A152T,Missense_A177T,Missense_A173T,Missense_A192T,Missense_A108T,Missense_A173T exm53534 1 44474143 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_G47S,Missense_G231S,Missense_G47S,Missense_G137S,Missense_G162S,Missense_G158S,Missense_G177S,Missense_G93S,Missense_G158S rs192630770 1 44474217 [T/A] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_Y22F,Missense_Y206F,Missense_Y22F,Missense_Y112F,Missense_Y137F,Missense_Y133F,Missense_Y152F,Missense_Y68F,Missense_Y133F rs1766967 1 44475586 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2486001 1 44475987 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs111347913 1 44481249 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44481798 1 44481799 [T/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm53562 1 44482771 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Missense_R12H,Silent,Synonymous_S24S,Missense_R12H,Silent,Missense_R12H,Synonymous_S24S,Silent 1:44482772-GA 1 44482772 [A/G] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Missense_R12C,Silent,Missense_S24L,Missense_R12C,Silent,Missense_R12C,Missense_S24L,Silent exm53568 1 44482799 [T/C] NR_048548,NM_001328630,NM_201649,NM_001328626,NM_001328627,NM_001261380,NM_001024845,NM_006934,NM_001328628,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Missense_G3S,Silent,Missense_R15Q,Missense_G3S,Silent,Missense_G3S,Missense_R15Q,Silent exm2260323 1 44487280 [T/C] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent JHU_1.44488381 1 44488382 [T/C] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent 1:44489938-TG 1 44489938 [T/G] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Missense_K4N,Missense_K4N rs7554322 1 44490723 [T/C] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent rs2906599 1 44490729 [T/C] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent rs113575553 1 44491060 [T/A] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent JHU_1.44492409 1 44492410 [A/G] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent 1:44492786-T-C 1 44492786 [T/C] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent rs74658637 1 44494076 [C/G] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent JHU_1.44494075 1 44494076 [C/G] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent rs783306 1 44494156 [A/G] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent JHU_1.44495153 1 44495154 [G/C] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent JHU_1.44496764 1 44496765 [T/C] NM_001328630,NM_001328626,NM_001024845,NM_001328629 SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Silent,Silent JHU_1.44497001 1 44497002 [T/G] NM_001328630,NM_001328626,NM_001024845 SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Silent JHU_1.44497846 1 44497847 [T/C] rs36065264 1 44497847 [D/I] rs12038878 1 44498812 [A/G] rs1978195 1 44499242 [A/G] rs12138281 1 44499488 [C/G] rs80094080 1 44501315 [T/G] rs141507306 1 44502164 [A/G] rs58283107 1 44505130 [A/T] rs2485994 1 44506265 [A/G] rs17413167 1 44507773 [T/G] rs751442 1 44509551 [A/C] rs6693689 1 44511409 [A/C] JHU_1.44512210 1 44512211 [A/T] JHU_1.44514500 1 44514501 [T/G] rs115402147 1 44516962 [A/G] JHU_1.44519276 1 44519277 [A/G] rs942756 1 44522274 [T/C] rs12759480 1 44529157 [T/C] rs145905394 1 44532452 [G/C] rs11210949 1 44535401 [T/C] JHU_1.44537662 1 44537663 [T/G] rs75480466 1 44538817 [T/C] JHU_1.44539687 1 44539688 [T/C] rs7531328 1 44541316 [T/A] JHU_1.44544108 1 44544109 [T/C] JHU_1.44554077 1 44554078 [A/C] JHU_1.44555477 1 44555478 [A/G] JHU_1.44555560 1 44555561 [T/C] rs2429059 1 44557363 [G/C] rs2025615 1 44559401 [A/G] rs12741645 1 44563347 [A/G] JHU_1.44566668 1 44566669 [T/C] rs12409509 1 44567089 [A/G] rs1291050 1 44571434 [A/G] JHU_1.44574132 1 44574133 [T/A] JHU_1.44574264 1 44574265 [T/C] rs6687432 1 44574265 [T/C] JHU_1.44576412 1 44576413 [A/G] rs55849928 1 44578369 [T/C] rs663818 1 44578559 [T/C] rs6682866 1 44578764 [A/C] rs75417150 1 44579048 [T/G] 1:44584590-GA 1 44584590 [A/G] NM_173484 KLF17 EXON Missense_R4Q exm1813276 1 44584638 [A/G] NM_173484 KLF17 EXON Missense_Q20R rs78624229 1 44585905 [T/C] NM_173484 KLF17 Silent rs114537743 1 44586363 [A/G] NM_173484 KLF17 Silent exm2268678 1 44587512 [T/C] NM_173484 KLF17 Silent rs115684949 1 44591671 [A/G] NM_173484 KLF17 Silent JHU_1.44594689 1 44594690 [A/G] NM_173484 KLF17 Silent rs2485653 1 44594966 [A/G] NM_173484 KLF17 Silent exm53580 1 44595047 [A/T] NM_173484 KLF17 EXON Missense_I35N 1:44595100-CT 1 44595100 [T/C] NM_173484 KLF17 EXON Nonsense_Q53X exm53584 1 44595113 [C/G] NM_173484 KLF17 EXON Missense_S57T rs6656945 1 44595183 [T/G] NM_173484 KLF17 EXON Missense_Q80H exm53587 1 44595183 [T/G] NM_173484 KLF17 EXON Missense_Q80H 1:44595217-CT 1 44595217 [T/C] NM_173484 KLF17 EXON Missense_P92S exm53589 1 44595221 [T/C] NM_173484 KLF17 EXON Missense_L93P exm53603 1 44595352 [C/G] NM_173484 KLF17 EXON Missense_E137Q exm53608 1 44595399 [G/C] NM_173484 KLF17 EXON Missense_R152S rs2485652 1 44595410 [A/G] NM_173484 KLF17 EXON Missense_N156S exm53609 1 44595410 [A/G] NM_173484 KLF17 EXON Missense_N156S 1:44595458-CT 1 44595458 [T/C] NM_173484 KLF17 EXON Missense_T172I exm53614 1 44595487 [T/C] NM_173484 KLF17 EXON Missense_L182F 1:44595518-TC 1 44595518 [T/C] NM_173484 KLF17 EXON Missense_L192S exm53621 1 44595622 [T/C] NM_173484 KLF17 EXON Missense_S227P exm2251800 1 44595708 [T/C] NM_173484 KLF17 EXON Synonymous_P255P exm53626 1 44595743 [A/G] NM_173484 KLF17 EXON Missense_R267K 1:44595838-CT 1 44595838 [T/C] NM_173484 KLF17 EXON Missense_H299Y exm1813291 1 44595844 [A/G] NM_173484 KLF17 EXON Missense_V301M exm53631 1 44595857 [A/G] NM_173484 KLF17 EXON Missense_R305H rs78538523 1 44595916 [T/C] NM_173484 KLF17 Silent 1:44596184-GA 1 44596184 [A/G] NM_173484 KLF17 EXON Missense_G309D 1:44596235-GA 1 44596235 [A/G] NM_173484 KLF17 EXON Missense_R326H 1:44596261-CT 1 44596261 [T/C] NM_173484 KLF17 EXON Missense_R335W exm53635 1 44596297 [T/C] NM_173484 KLF17 EXON Nonsense_Q347X 1:44596314-CA 1 44596314 [A/C] NM_173484 KLF17 EXON Missense_F352L 1:44596380-CCAA-C 1 44596380 [I/D] NM_173484 KLF17 EXON 1:44596397-AC 1 44596397 [A/C] NM_173484 KLF17 EXON Missense_E380A rs2254746 1 44598760 [A/G] NM_173484 KLF17 Silent JHU_1.44599252 1 44599253 [T/C] NM_173484 KLF17 EXON Silent rs78003454 1 44607815 [A/G] rs144732989 1 44608357 [T/G] rs117983362 1 44609017 [A/G] rs6675129 1 44610760 [A/G] JHU_1.44613220 1 44613221 [T/C] rs803382 1 44613281 [T/C] rs79408214 1 44615452 [T/C] rs76939383 1 44616445 [A/C] JHU_1.44616459 1 44616460 [A/G] JHU_1.44617373 1 44617374 [T/A] rs6429532 1 44617687 [A/G] JHU_1.44618659 1 44618660 [T/A] JHU_1.44627521 1 44627522 [T/C] JHU_1.44635748 1 44635749 [T/C] rs75812760 1 44637211 [T/G] rs181318456 1 44642422 [A/T] rs113424384 1 44646949 [T/C] JHU_1.44651219 1 44651220 [A/T] rs11577668 1 44652884 [T/C] JHU_1.44655114 1 44655115 [A/G] rs11576516 1 44656429 [T/C] 1:44657150-T-A 1 44657150 [A/T] rs116009407 1 44657482 [T/C] rs117811035 1 44659909 [A/G] rs803371 1 44666345 [T/C] JHU_1.44668010 1 44668011 [T/C] JHU_1.44672453 1 44672454 [A/T] JHU_1.44679161 1 44679162 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Silent,Silent,Silent 1:44679335-GA 1 44679335 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Silent,Silent,Silent 1:44679477-GT 1 44679477 [T/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_G18W,Missense_G18W,Missense_G18W 1:44679523-CA 1 44679523 [A/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_P33Q,Missense_P33Q,Missense_P33Q 1:44680682-GA 1 44680682 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 Silent,Silent,Silent JHU_1.44682181 1 44682182 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 Silent,Silent,Silent 1:44683969-CT 1 44683969 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 Silent,Silent,Silent exm53666 1 44683998 [G/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_V137L,Missense_V137L,Missense_V137L 1:44684021-GA 1 44684021 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Synonymous_Q144Q,Synonymous_Q144Q,Synonymous_Q144Q 1:44684084-CT 1 44684084 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Synonymous_R165R,Synonymous_R165R,Synonymous_R165R exm53677 1 44684309 [A/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_K201T,Missense_K201T,Missense_K201T 1:44684797-CA 1 44684797 [A/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_R264S,Missense_R264S,Missense_R264S exm53687 1 44684855 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_R283H,Missense_R283H,Missense_R283H rs145250355 1 44685305 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 Silent,Silent,Silent rs41270415 1 44685664 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 Silent,Silent,Silent JHU_1.44685676 1 44685677 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 Silent,Silent,Silent exm53698 1 44685695 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_S353N,Missense_S353N,Missense_S353N exm53700 1 44685725 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_M363T,Missense_M363T,Missense_M363T exm2233440 1 44685747 [C/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_D370E,Missense_D370E,Missense_D370E exm53705 1 44685854 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_G406D,Missense_G406D,Missense_G406D exm53707 1 44685884 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_P416L,Missense_P416L,Missense_P416L exm53709 1 44685886 [A/G] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_A417T,Missense_A417T,Missense_A417T exm2273646 1 44685913 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_P426S,Missense_P426S,Missense_P426S exm1813324 1 44685926 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Missense_P430L,Missense_P430L,Missense_P430L rs12419 1 44686322 [T/C] NM_001034023,NM_001034024,NM_019100 DMAP1,DMAP1,DMAP1 EXON Silent,Silent,Silent exm2251803 1 44687242 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 EXON Silent,Synonymous_S334S,Synonymous_S256S,Synonymous_S256S,Synonymous_S157S rs77020788 1 44688889 [A/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701,NR_110056 ERI3,ERI3,ERI3,ERI3,ERI3,ERI3-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs79430309 1 44690028 [G/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701,NR_110056 ERI3,ERI3,ERI3,ERI3,ERI3,ERI3-IT1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44691334 1 44691335 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701,NR_110056 ERI3,ERI3,ERI3,ERI3,ERI3,ERI3-IT1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44695361 1 44695362 [G/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701,NR_110056 ERI3,ERI3,ERI3,ERI3,ERI3,ERI3-IT1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44696281 1 44696282 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701,NR_110056 ERI3,ERI3,ERI3,ERI3,ERI3,ERI3-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs185957102 1 44701940 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701,NR_110056 ERI3,ERI3,ERI3,ERI3,ERI3,ERI3-IT1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44705684 1 44705685 [C/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701,NR_110056 ERI3,ERI3,ERI3,ERI3,ERI3,ERI3-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs150429055 1 44705799 [A/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701,NR_110056 ERI3,ERI3,ERI3,ERI3,ERI3,ERI3-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs11589379 1 44709218 [A/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701,NR_110056,NR_046817 ERI3,ERI3,ERI3,ERI3,ERI3,ERI3-IT1,ERI3-IT1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.44712105 1 44712106 [A/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent rs60094520 1 44726096 [G/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44733446 1 44733447 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent rs60413302 1 44734892 [A/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44736320 1 44736321 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44744760 1 44744761 [T/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent rs459358 1 44745624 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44746216 1 44746217 [A/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent 1:44749700-C-CTGG 1 44749700 [D/I] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 1:44749737-CT 1 44749737 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44750794 1 44750795 [A/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44762791 1 44762792 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44767473 1 44767474 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent rs6697117 1 44772093 [A/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent rs325145 1 44772626 [T/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44779328 1 44779329 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent rs149901645 1 44779811 [T/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44780618 1 44780619 [A/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent exm2251807 1 44785393 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 EXON Synonymous_L93L,Synonymous_L171L,Synonymous_L93L,Synonymous_L93L,Silent 1:44788486-TC 1 44788486 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent rs76908187 1 44789230 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent rs161720 1 44790653 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44797507 1 44797508 [T/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44799543 1 44799544 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent exm53745 1 44804892 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 EXON Missense_H27R,Missense_H105R,Missense_H27R,Missense_H27R,Silent JHU_1.44805816 1 44805817 [T/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44813463 1 44813464 [T/C] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent JHU_1.44814381 1 44814382 [A/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 Silent,Silent,Silent,Silent,Silent 1:44820617-GT 1 44820617 [T/G] NM_001301700,NM_024066,NM_001301699,NM_001301698,NM_001301701 ERI3,ERI3,ERI3,ERI3,ERI3 EXON Silent,Missense_P28T,Silent,Silent,Silent JHU_1.44827845 1 44827846 [A/G] JHU_1.44831010 1 44831011 [A/C] JHU_1.44831426 1 44831427 [A/G] rs226075 1 44840084 [A/C] JHU_1.44841632 1 44841633 [T/C] JHU_1.44843903 1 44843904 [T/C] rs4660275 1 44844958 [A/G] JHU_1.44845421 1 44845422 [T/C] JHU_1.44847011 1 44847012 [T/C] rs74070483 1 44855819 [A/G] rs3915854 1 44858169 [T/C] rs115440605 1 44858516 [T/C] rs7530397 1 44860853 [A/G] rs74788637 1 44865257 [T/A] JHU_1.44874799 1 44874800 [A/C] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent JHU_1.44877063 1 44877064 [A/G] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent 1:44877873-GA 1 44877873 [A/G] NM_001319956,NM_018150 RNF220,RNF220 EXON Missense_S35N,Missense_S35N exm53773 1 44877962 [A/G] NM_001319956,NM_018150 RNF220,RNF220 EXON Missense_G65S,Missense_G65S exm53774 1 44877983 [A/G] NM_001319956,NM_018150 RNF220,RNF220 EXON Missense_M72V,Missense_M72V exm53776 1 44878067 [T/G] NM_001319956,NM_018150 RNF220,RNF220 EXON Missense_A100S,Missense_A100S 1:44878272-AC 1 44878272 [A/C] NM_001319956,NM_018150 RNF220,RNF220 EXON Missense_Q168P,Missense_Q168P 1:44878318-GGAA-G 1 44878318 [I/D] NM_001319956,NM_018150 RNF220,RNF220 EXON JHU_1.44878455 1 44878456 [A/C] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent JHU_1.44878463 1 44878464 [A/G] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent rs11210991 1 44878509 [C/G] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent JHU_1.44878687 1 44878688 [A/G] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent JHU_1.44878737 1 44878738 [A/G] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent rs6700921 1 44881888 [A/G] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent rs10890300 1 44881993 [G/C] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent rs3906232 1 44882371 [A/G] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent rs75041675 1 44883714 [A/G] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent rs3912554 1 44884857 [T/A] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent rs3866641 1 44886533 [A/G] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent JHU_1.44888968 1 44888969 [C/G] NM_001319956,NM_018150 RNF220,RNF220 Silent,Silent rs12022308 1 44891488 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44893719 1 44893720 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6679081 1 44895014 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs2185501 1 44895479 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44897260 1 44897261 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44897295 1 44897296 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44898571 1 44898572 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6429540 1 44902285 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs116348497 1 44903315 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs16831963 1 44911632 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs7553056 1 44911812 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs61769117 1 44917945 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs1417371 1 44920992 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44921477 1 44921478 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs76849908 1 44923609 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs79212009 1 44923623 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44925477 1 44925478 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6664827 1 44925508 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs1890948 1 44929865 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6684444 1 44936512 [A/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs77313130 1 44938870 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs7549585 1 44947616 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs781783 1 44951085 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs12036856 1 44952582 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44956264 1 44956265 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs12077687 1 44956714 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44966243 1 44966244 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs68002039 1 44967323 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44967322 1 44967323 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs138853962 1 44967381 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs56242438 1 44967431 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44967437 1 44967438 [T/A] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs12740646 1 44971778 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44971900 1 44971901 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs74457430 1 44972001 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs781770 1 44974119 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs72688091 1 44977420 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs16832018 1 44979498 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs12732315 1 44980434 [G/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs2994537 1 44981824 [T/A] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs12749754 1 44984932 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs272531 1 44988433 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs4660809 1 44988477 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs270724 1 44991278 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs12133829 1 44993157 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs782135 1 44994835 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs61080663 1 44995904 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.44996677 1 44996678 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6672462 1 44997314 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs10890308 1 44998464 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs12063874 1 45001157 [A/T] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45002276 1 45002277 [G/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45002692 1 45002693 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs156653 1 45003255 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs12033316 1 45003612 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs7532058 1 45003861 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs79815707 1 45004009 [G/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs272570 1 45005996 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs72895588 1 45006232 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs17386301 1 45006391 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45008915 1 45008916 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs11211011 1 45009711 [T/A] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs11211012 1 45010745 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs272566 1 45013750 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs74782855 1 45013785 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45013815 1 45013816 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs58092428 1 45017304 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45018237 1 45018238 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs172018 1 45018815 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs175222 1 45019240 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs270764 1 45024342 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs17382408 1 45025485 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45026019 1 45026020 [A/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45030580 1 45030581 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs35789261 1 45033059 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45033466 1 45033467 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs10158231 1 45035621 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6683304 1 45036420 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs59485926 1 45037564 [T/A] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45038080 1 45038081 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs69141 1 45039205 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45044235 1 45044236 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs77905395 1 45046352 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent exm2260330 1 45047805 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45049478 1 45049479 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45049990 1 45049991 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs270709 1 45050047 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs272529 1 45050958 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs928685 1 45053760 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs270716 1 45054866 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs72671903 1 45055761 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45055874 1 45055875 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs12127289 1 45057363 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45062768 1 45062769 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs11582493 1 45063606 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs275069 1 45063668 [C/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs61789877 1 45066063 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6704426 1 45067435 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs10890311 1 45067768 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs272557 1 45068310 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs272550 1 45076339 [C/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs156257 1 45076660 [A/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs3012025 1 45080294 [A/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs461659 1 45081218 [C/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs66988384 1 45082406 [A/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45082824 1 45082825 [C/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45085437 1 45085438 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45086578 1 45086579 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs270729 1 45088053 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs114740081 1 45089289 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs57476538 1 45089891 [C/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45092198 1 45092199 [G/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs115545367 1 45097513 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45097512 1 45097513 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45097583 1 45097584 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent exm53800 1 45098016 [C/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_T303S,Missense_T303S,Missense_T64S 1:45098049-GA 1 45098049 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_R314Q,Missense_R314Q,Missense_R75Q rs80147593 1 45100431 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs2236219 1 45101478 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent exm53813 1 45101717 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_M337V,Missense_M337V,Missense_M124V exm53815 1 45101765 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_F353L,Missense_F353L,Missense_F140L 1:45101832-GA 1 45101832 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_R375Q,Missense_R375Q,Missense_R162Q JHU_1.45106388 1 45106389 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45108227 1 45108228 [T/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs117054441 1 45108843 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent exm53819 1 45110400 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_E386G,Missense_E386G,Missense_E173G exm53823 1 45110683 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_V414I,Missense_V414I,Missense_V201I exm53824 1 45110690 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_P416L,Missense_P416L,Missense_P203L exm53831 1 45110910 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_T443M,Missense_T443M,Missense_T230M 1:45111059-GA 1 45111059 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent JHU_1.45111359 1 45111360 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs6698388 1 45111713 [A/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs117176919 1 45111738 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs3768440 1 45112717 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs3768439 1 45113326 [T/A] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs4660817 1 45113759 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent 1:45115440-TC 1 45115440 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Missense_M518T,Missense_M518T,Missense_M305T exm2251820 1 45115596 [T/C] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Synonymous_H532H,Synonymous_H532H,Synonymous_H319H 1:45115669-GA 1 45115669 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 Silent,Silent,Silent rs2822 1 45117300 [A/G] NM_001319956,NM_018150,NM_001319957 RNF220,RNF220,RNF220 EXON Silent,Silent,Silent exm53852 1 45120239 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_R245C,Missense_R246C,Missense_R276C,Missense_R203C exm2251822 1 45120405 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Synonymous_D189D,Synonymous_D190D,Synonymous_D220D,Synonymous_D147D 1:45120521-CT 1 45120521 [T/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_V151I,Missense_V152I,Missense_V182I,Missense_V109I exm53873 1 45120542 [T/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_V144M,Missense_V145M,Missense_V175M,Missense_V102M 1:45120664-CT 1 45120664 [T/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_R103H,Missense_R104H,Missense_R134H,Missense_R61H exm53886 1 45120674 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_R100C,Missense_R101C,Missense_R131C,Missense_R58C exm53890 1 45120722 [T/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_G84S,Missense_G85S,Missense_G115S,Missense_G42S 1:45120833-GAGA-G 1 45120833 [I/D] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON rs11211020 1 45121045 [T/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 Silent,Silent,Silent,Silent rs3850853 1 45125356 [T/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 Silent,Silent,Silent,Silent 1:45125964-TC 1 45125964 [T/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_N22S,Missense_N22S,Missense_N22S,Silent rs6683133 1 45133561 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 Silent,Silent,Silent,Silent rs72671978 1 45135873 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 Silent,Silent,Silent,Silent JHU_1.45137118 1 45137119 [T/C] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 Silent,Silent,Silent,Silent rs6678831 1 45137703 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 Silent,Silent,Silent,Silent exm53902 1 45140038 [A/G] NM_001300748,NM_001300747,NM_024587,NM_001300746 TMEM53,TMEM53,TMEM53,TMEM53 EXON Missense_T9I,Missense_T9I,Missense_T9I,Silent rs114294454 1 45143191 [A/T] NM_001145636 ARMH1 Silent rs142626904 1 45145304 [A/G] NM_001145636 ARMH1 Silent JHU_1.45151751 1 45151752 [A/G] NM_001145636 ARMH1 Silent rs16832186 1 45153116 [T/G] NM_001145636 ARMH1 Silent JHU_1.45153956 1 45153957 [A/C] NM_001145636 ARMH1 Silent newrs142681287 1 45155551 [A/G] NM_001145636 ARMH1 EXON Missense_R61H rs12751934 1 45165414 [A/G] NM_001145636 ARMH1 Silent JHU_1.45165906 1 45165907 [T/C] NM_001145636 ARMH1 Silent newrs185823968 1 45166594 [A/G] NM_001145636 ARMH1 Silent 1:45166685-GA 1 45166685 [A/G] NM_001145636 ARMH1 EXON Missense_G178D exm53912 1 45166717 [C/G] NM_001145636 ARMH1 EXON Missense_G189R chr1_45166741 1 45166741 [A/G] NM_001145636 ARMH1 EXON Missense_E197K rs12118100 1 45168480 [T/C] NM_001145636 ARMH1 Silent rs112626916 1 45169033 [T/C] NM_001145636 ARMH1 Silent rs12088087 1 45170012 [A/G] NM_001145636 ARMH1 Silent rs72671992 1 45170161 [A/G] NM_001145636 ARMH1 Silent rs10890313 1 45175925 [A/G] NM_001145636 ARMH1 Silent rs77796932 1 45177071 [A/G] NM_001145636 ARMH1 Silent rs2983716 1 45186245 [A/G] NM_001145636 ARMH1 Silent 1:45189811-GT 1 45189811 [T/G] NM_001145636 ARMH1 EXON Missense_D248Y 1:45189838-GT 1 45189838 [T/G] NM_001145636 ARMH1 EXON Missense_A257S chr1_45190279 1 45190279 [T/C] NM_001145636 ARMH1 EXON Missense_M330T Variant12377 1 45190328 [D/I] NM_001145636 ARMH1 EXON 1:45190886-CA-C 1 45190886 [I/D] NM_001145636 ARMH1 EXON 1:45191002-TC 1 45191002 [T/C] NM_001145636 ARMH1 EXON Missense_L417P 1:45193944-A-G 1 45193944 [A/G] JHU_1.45196672 1 45196673 [T/C] exm53931 1 45205606 [A/T] NM_006845,NM_001297655 KIF2C,KIF2C EXON Missense_M1K,Missense_M1K 1:45205699-AG 1 45205699 [A/G] NM_006845,NM_001297655 KIF2C,KIF2C Silent,Silent 1:45205715-GA 1 45205715 [A/G] NM_006845,NM_001297655 KIF2C,KIF2C Silent,Silent JHU_1.45208409 1 45208410 [A/C] NM_006845,NM_001297655 KIF2C,KIF2C Silent,Silent JHU_1.45209660 1 45209661 [A/G] NM_006845,NM_001297655 KIF2C,KIF2C Silent,Silent rs114573091 1 45211518 [A/C] NM_006845,NM_001297655 KIF2C,KIF2C Silent,Silent exm53940 1 45213152 [A/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_I88V,Missense_I88V,Missense_I34V,Silent newrs151183655 1 45213158 [A/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C Silent,Silent,Silent,Silent rs79651130 1 45216516 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C Silent,Silent,Silent,Silent variant.3000 1 45223644 [A/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C Silent,Silent,Silent,Silent rs76314761 1 45224925 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Synonymous_D424D,Synonymous_D383D,Synonymous_D370D,Synonymous_D311D rs139346428 1 45224990 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_I446T,Missense_I405T,Missense_I392T,Missense_I333T exm53978 1 45224990 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_I446T,Missense_I405T,Missense_I392T,Missense_I333T exm53979 1 45224998 [A/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_I449L,Missense_I408L,Missense_I395L,Missense_I336L exm1814239 1 45225004 [A/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_M451V,Missense_M410V,Missense_M397V,Missense_M338V exm53983 1 45225999 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_A472V,Missense_A431V,Missense_A418V,Missense_A359V 1:45226032-GT 1 45226032 [T/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_R483I,Missense_R442I,Missense_R429I,Missense_R370I 1:45226092-CT 1 45226092 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_S503F,Missense_S462F,Missense_S449F,Missense_S390F rs145224235 1 45226092 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_S503F,Missense_S462F,Missense_S449F,Missense_S390F exm53990 1 45226103 [C/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_R507G,Missense_R466G,Missense_R453G,Missense_R394G 1:45227939-CT 1 45227939 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C Silent,Silent,Silent,Silent exm54007 1 45228107 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_A614V,Missense_A573V,Missense_A560V,Missense_A501V exm54009 1 45228236 [T/A] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_E626V,Missense_E585V,Missense_E572V,Missense_E513V rs151202038 1 45228236 [T/A] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_E626V,Missense_E585V,Missense_E572V,Missense_E513V exm54013 1 45228274 [A/T] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_T639S,Missense_T598S,Missense_T585S,Missense_T526S rs12746270 1 45228580 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C Silent,Silent,Silent,Silent rs76977077 1 45229748 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C Silent,Silent,Silent,Silent JHU_1.45229747 1 45229748 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C Silent,Silent,Silent,Silent exm54021 1 45232574 [T/C] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_A683V,Missense_A642V,Missense_A629V,Missense_A570V exm54024 1 45232619 [A/G] NM_006845,NM_001297655,NM_001297656,NM_001297657 KIF2C,KIF2C,KIF2C,KIF2C EXON Missense_R698Q,Missense_R657Q,Missense_R644Q,Missense_R585Q rs11211031 1 45241113 [T/C] rs12120833 1 45241285 [G/C] NM_001012 RPS8 Silent 1:45249090-T-G 1 45249090 [T/G] 1:45249929-TC 1 45249929 [T/C] NM_153274 BEST4 EXON Missense_I459V 1:45250820-GA 1 45250820 [A/G] NM_153274 BEST4 EXON Missense_T291I exm54100 1 45250841 [A/G] NM_153274 BEST4 EXON Missense_P284L newrs144370787 1 45251349 [A/C] NM_153274 BEST4 Silent variant.3007 1 45251901 [T/C] NM_153274 BEST4 Silent rs77461644 1 45252145 [T/C] NM_153274 BEST4 EXON Synonymous_V157V 1:45253091-CT 1 45253091 [T/C] NM_153274 BEST4 EXON Missense_R67Q exm54130 1 45253101 [A/G] NM_153274 BEST4 EXON Nonsense_Q64X exm54133 1 45253126 [G/C] NM_153274 BEST4 EXON Synonymous_T55T exm54134 1 45253226 [T/C] NM_153274 BEST4 EXON Missense_R51Q exm54135 1 45253227 [T/G] NM_153274 BEST4 EXON Synonymous_R51R rs12057238 1 45258141 [A/C] 1:45258269-C-T 1 45258269 [T/C] JHU_1.45259058 1 45259059 [A/C] 1:45266554-GA 1 45266554 [A/G] NM_004073 PLK3 EXON Missense_G85S exm54167 1 45267346 [T/G] NM_004073 PLK3 EXON Missense_R163L exm54169 1 45267393 [T/C] NM_004073 PLK3 EXON Missense_R179C 1:45267606-GTGAGTTT-G 1 45267606 [I/D] NM_004073 PLK3 exm54177 1 45268632 [T/C] NM_004073 PLK3 EXON Missense_T252M exm54180 1 45268662 [T/C] NM_004073 PLK3 EXON Missense_T262M 1:45268680-CT 1 45268680 [T/C] NM_004073 PLK3 EXON Missense_T268M exm54187 1 45268781 [T/C] NM_004073 PLK3 EXON Missense_R302C 1:45268964-AG 1 45268964 [A/G] NM_004073 PLK3 EXON Missense_I325V 1:45269052-GA 1 45269052 [A/G] NM_004073 PLK3 EXON Missense_R354K newrs141933667 1 45269063 [A/G] NM_004073 PLK3 EXON Missense_S358G exm54202 1 45269307 [A/G] NM_004073 PLK3 EXON Missense_G370S 1:45269329-GA 1 45269329 [A/G] NM_004073 PLK3 EXON Missense_R377H 1:45269669-CT 1 45269669 [T/C] NM_004073 PLK3 EXON Missense_R411C 1:45269840-TGAA-T 1 45269840 [I/D] NM_004073 PLK3 EXON exm54221 1 45270119 [A/G] NM_004073 PLK3 EXON Missense_R484H chr1_45270378 1 45270378 [T/C] NM_004073 PLK3 EXON Missense_V521A exm54228 1 45270383 [T/C] NM_004073 PLK3 EXON Missense_R523W exm2273647 1 45271238 [A/G] NM_004073 PLK3 EXON Missense_R610H exm54238 1 45271250 [T/C] NM_004073 PLK3 EXON Missense_T614I 1:45271261-TC 1 45271261 [T/C] NM_004073 PLK3 EXON Missense_S618P exm54245 1 45271700 [A/G] NM_001013632 TCTEX1D4 EXON Missense_T214M 1:45272249-CA 1 45272249 [A/C] NM_001013632 TCTEX1D4 EXON Missense_C31F JHU_1.45274083 1 45274084 [A/T] JHU_1.45274257 1 45274258 [T/C] NM_001136537 BTBD19 EXON Silent exm54275 1 45274514 [A/G] NM_001136537 BTBD19 EXON Missense_V8M 1:45274841-T-C 1 45274841 [T/C] NM_001136537 BTBD19 Silent 1:45275914-GA 1 45275914 [A/G] NM_001136537 BTBD19 EXON Missense_R39Q 1:45276003-CT 1 45276003 [T/C] NM_001136537 BTBD19 EXON Missense_P69S exm54285 1 45276242 [T/C] NM_001136537 BTBD19 EXON Missense_T106I rs4399197 1 45278364 [T/C] NM_001136537 BTBD19 Silent 1:45279122-CT 1 45279122 [T/C] NM_001136537 BTBD19 EXON Missense_A231V JHU_1.45279647 1 45279648 [A/G] NM_001136537 BTBD19 EXON Silent rs117344385 1 45279648 [A/G] NM_001136537 BTBD19 EXON Silent rs16832250 1 45285106 [A/C] JHU_1.45285561 1 45285562 [A/G] NM_001166292 PTCH2 EXON Silent rs183280839 1 45285601 [A/G] NM_001166292 PTCH2 EXON Silent 1:45287529-CT 1 45287529 [T/C] NM_001166292 PTCH2 Silent exm54306 1 45288110 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Silent,Missense_G1197R exm54311 1 45288336 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_I1121M,Missense_I1121M exm54315 1 45288818 [G/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V1094L,Missense_V1094L rs138220875 1 45288962 [G/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_L1070F,Missense_L1070F 1:45288976-CT 1 45288976 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_A1066T,Missense_A1066T exm2251832 1 45288983 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Synonymous_T1063T,Synonymous_T1063T exm54324 1 45288988 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V1062M,Missense_V1062M exm54338 1 45291981 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V1019M,Missense_V1019M rs11573590 1 45292173 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_T988M,Missense_T988M exm54348 1 45292234 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V968I,Missense_V968I exm54352 1 45292333 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_A935T,Missense_A935T exm54358 1 45292576 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R898H,Missense_R898H exm54360 1 45292591 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_T893M,Missense_T893M 1:45292709-CT 1 45292709 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_E854K,Missense_E854K rs2295996 1 45292866 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Synonymous_D829D,Synonymous_D829D seq-rs112613379 1 45292921 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R811H,Missense_R811H 1:45292921-CT 1 45292921 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R811H,Missense_R811H Variant37891 1 45293090 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Synonymous_Y785Y,Synonymous_Y785Y 1:45293197-CT 1 45293197 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_A750T,Missense_A750T 1:45293272-CA 1 45293272 [A/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_A725S,Missense_A725S 1:45293290-GA 1 45293290 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R719W,Missense_R719W exm54409 1 45293579 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R665H,Missense_R665H exm54410 1 45293580 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R665C,Missense_R665C 1:45293622-CT 1 45293622 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_E651K,Missense_E651K exm54414 1 45293709 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_H622Y,Missense_H622Y exm54418 1 45293793 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_A594T,Missense_A594T 1:45293813-CT 1 45293813 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_G587E,Missense_G587E 1:45293847-CA 1 45293847 [A/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V576L,Missense_V576L chr1_45293855 1 45293855 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_S573F,Missense_S573F 1:45294043-AG 1 45294043 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V545A,Missense_V545A 1:45294079-AG 1 45294079 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_I533T,Missense_I533T Variant37892 1 45294199 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Synonymous_A523A,Synonymous_A523A exm54432 1 45294261 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V503I,Missense_V503I rs11573581 1 45294291 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_E493K,Missense_E493K exm54434 1 45294291 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_E493K,Missense_E493K Variant48339 1 45294707 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_V471I,Missense_V471I rs187485698 1 45294821 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 Silent,Silent chr1_45294833 1 45294833 [T/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_T456N,Missense_T456N 1:45294843-CA 1 45294843 [A/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_A453S,Missense_A453S 1:45294866-GA 1 45294866 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_A445V,Missense_A445V Variant48340 1 45295115 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_E392K,Missense_E392K exm54459 1 45295296 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R358H,Missense_R358H rs139624405 1 45295296 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R358H,Missense_R358H rs145240049 1 45295300 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R357W,Missense_R357W 1:45295353-TC 1 45295353 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_H339R,Missense_H339R 1:45295682-CA 1 45295682 [A/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_E278D,Missense_E278D JHU_1.45296276 1 45296277 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 Silent,Silent rs11573577 1 45296322 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 Silent,Silent exm54477 1 45296598 [G/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_Q245H,Missense_Q245H rs200366479 1 45296630 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R235W,Missense_R235W exm54484 1 45296711 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R208C,Missense_R208C 1:45297932-AG 1 45297932 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_I116T,Missense_I116T rs200800966 1 45297932 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_I116T,Missense_I116T rs80168454 1 45297968 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_L104P,Missense_L104P chr1_45297975 1 45297975 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_E102K,Missense_E102K rs11211041 1 45298538 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 Silent,Silent rs11573562 1 45301735 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 Silent,Silent JHU_1.45306874 1 45306875 [A/C] NM_001166292,NM_003738 PTCH2,PTCH2 Silent,Silent 1:45307563-CT 1 45307563 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_R74H,Missense_R74H 1:45307600-CT 1 45307600 [T/C] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Missense_G62R,Missense_G62R rs6429550 1 45311749 [A/G] rs263986 1 45314324 [T/C] JHU_1.45314897 1 45314898 [T/G] rs6694697 1 45315319 [T/C] Variant48341 1 45316670 [A/G] NM_001261418,NM_020365 EIF2B3,EIF2B3 EXON Silent,Nonsense_R438X rs12738360 1 45318070 [T/G] NM_001261418,NM_020365 EIF2B3,EIF2B3 Silent,Silent rs10159318 1 45322291 [A/G] NM_001261418,NM_020365 EIF2B3,EIF2B3 Silent,Silent rs184096894 1 45323602 [T/C] NM_001261418,NM_020365 EIF2B3,EIF2B3 Silent,Silent JHU_1.45326937 1 45326938 [A/G] NM_001261418,NM_020365 EIF2B3,EIF2B3 Silent,Silent JHU_1.45332082 1 45332083 [A/C] NM_001261418,NM_020365 EIF2B3,EIF2B3 Silent,Silent JHU_1.45333493 1 45333494 [A/T] NM_001261418,NM_020365 EIF2B3,EIF2B3 Silent,Silent exm54519 1 45340342 [A/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Silent,Silent,Missense_S404A newrs113994026 1 45340358 [I/D] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON 1:45340401-CT 1 45340401 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R384K,Missense_R384K,Missense_R384K exm54520 1 45340416 [C/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_C379S,Missense_C379S,Missense_C379S 1:45340422-GA 1 45340422 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_S377L,Missense_S377L,Missense_S377L rs263955 1 45340703 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent exm54528 1 45341318 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_S342L,Missense_S342L,Missense_S342L exm54529 1 45341360 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_K328R,Missense_K328R,Missense_K328R rs75219275 1 45345036 [A/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent var_1_45345595 1 45345595 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Nonsense_W290X,Nonsense_W290X,Nonsense_W290X 1:45345627-CA 1 45345627 [A/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_A280S,Missense_A280S,Missense_A280S exm54537 1 45345632 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_Y278C,Missense_Y278C,Missense_Y278C chr1_45347381 1 45347381 [A/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_I229M,Missense_I229M,Missense_I229M Variant48342 1 45347381 [A/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_I229M,Missense_I229M,Missense_I229M var_1_45347394 1 45347394 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R225Q,Missense_R225Q,Missense_R225Q rs113994024 1 45347394 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R225Q,Missense_R225Q,Missense_R225Q JHU_1.45352148 1 45352149 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs263975 1 45358527 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs139526549 1 45363050 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Synonymous_I211I,Synonymous_I211I,Synonymous_I211I exm2251836 1 45363092 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Synonymous_T197T,Synonymous_T197T,Synonymous_T197T rs1572379 1 45369086 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent JHU_1.45376766 1 45376767 [T/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent JHU_1.45377161 1 45377162 [T/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs147185192 1 45391624 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent exm54550 1 45392402 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R155H,Missense_R155H,Missense_R155H rs17393012 1 45400653 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent Variant12380 1 45407182 [I/D] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON exm54556 1 45407190 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_K148E,Missense_K148E,Missense_K148E rs151056457 1 45407190 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_K148E,Missense_K148E,Missense_K148E exm2233455 1 45407193 [G/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_G147R,Missense_G147R,Missense_G147R JHU_1.45408005 1 45408006 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs12407565 1 45416900 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs452989 1 45417184 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent JHU_1.45428599 1 45428600 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent JHU_1.45430228 1 45430229 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs17390983 1 45432392 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs113994022 1 45444021 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_A87V,Missense_A87V,Missense_A87V var_1_45444021 1 45444021 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_A87V,Missense_A87V,Missense_A87V chr1_45444051 1 45444051 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_C77Y,Missense_C77Y,Missense_C77Y rs144054571 1 45444057 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_I75T,Missense_I75T,Missense_I75T exm54569 1 45444057 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_I75T,Missense_I75T,Missense_I75T rs264025 1 45444996 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent exm54573 1 45446707 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R45H,Missense_R45H,Missense_R45H rs191579939 1 45446708 [A/G] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R45C,Missense_R45C,Missense_R45C 1:45446761-T-A 1 45446761 [T/A] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_L27Q,Missense_L27Q,Missense_L27Q exm2233456 1 45446819 [A/T] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_M8L,Missense_M8L,Missense_M8L JHU_1.45451808 1 45451809 [T/C] NM_001261418,NM_020365,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs4399199 1 45457278 [T/C] exm2264831 1 45460832 [A/G] rs6666806 1 45466927 [A/C] exm54587 1 45469240 [A/G] NM_024602 HECTD3 EXON Missense_V837A 1:45469395-GA 1 45469395 [A/G] NM_024602 HECTD3 EXON Missense_A816V exm54598 1 45469567 [A/G] NM_024602 HECTD3 EXON Missense_R797C 1:45469774-GA 1 45469774 [A/G] NM_024602 HECTD3 EXON Missense_R769W 1:45469969-CA 1 45469969 [A/C] NM_024602 HECTD3 EXON Missense_K741N exm54606 1 45470003 [A/G] NM_024602 HECTD3 EXON Missense_V730A 1:45470319-AG 1 45470319 [A/G] NM_024602 HECTD3 EXON Missense_F699L chr1_45470343 1 45470343 [T/C] NM_024602 HECTD3 EXON Missense_V691M exm54624 1 45471784 [T/C] NM_024602 HECTD3 EXON Missense_N577S JHU_1.45472833 1 45472834 [T/G] NM_024602 HECTD3 Silent 1:45473989-TG 1 45473989 [T/G] NM_024602 HECTD3 EXON Missense_I415L rs7541207 1 45474008 [T/C] NM_024602 HECTD3 Silent 1:45474024-AC 1 45474024 [A/C] NM_024602 HECTD3 Silent 1:45474218-GA 1 45474218 [A/G] NM_024602 HECTD3 EXON Missense_L410F 1:45474248-CT 1 45474248 [T/C] NM_024602 HECTD3 EXON Missense_D400N exm54659 1 45474828 [T/C] NM_024602 HECTD3 EXON Missense_V354M rs180687450 1 45474999 [T/C] NM_024602 HECTD3 Silent 1:45475054-CT 1 45475054 [T/C] NM_024602 HECTD3 EXON Missense_V326M exm54682 1 45475886 [T/C] NM_024602 HECTD3 EXON Missense_V204I exm54684 1 45475906 [A/G] NM_024602 HECTD3 EXON Missense_A197V exm54692 1 45476368 [C/G] NM_024602 HECTD3 EXON Missense_A127G 1:45476375-GT 1 45476375 [T/G] NM_024602 HECTD3 EXON Missense_Q125K rs3806405 1 45476489 [A/G] NM_024602 HECTD3 Silent 1:45476617-GA 1 45476617 [A/G] NM_024602 HECTD3 EXON Missense_R105C 1:45476780-CA 1 45476780 [A/C] NM_024602 HECTD3 EXON Missense_K50N variant.3034 1 45477940 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_M1I,Silent Variant48348 1 45477958 [A/G] NM_000374,NR_036510 UROD,UROD Silent,Silent 1:45478667-CT 1 45478667 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R37C,Silent exm1814818 1 45478832 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_Q53R,Silent variant.3037 1 45478988 [T/G] NM_000374,NR_036510 UROD,UROD EXON Missense_A80S,Silent Variant15896 1 45478993 [I/D] NM_000374,NR_036510 UROD,UROD EXON 1:45479292-AG 1 45479292 [A/G] NM_000374,NR_036510 UROD,UROD EXON Synonymous_V101V,Silent exm54716 1 45479293 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_P102S,Silent Variant48354 1 45479335 [T/C] NM_000374,NR_036510 UROD,UROD EXON Nonsense_Q116X,Silent Variant48355 1 45479347 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R120C,Silent exm54718 1 45479353 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R122W,Silent exm54719 1 45479354 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_R122Q,Silent exm54720 1 45479372 [A/C] NM_000374,NR_036510 UROD,UROD EXON Missense_A128D,Silent exm54721 1 45479379 [T/G] NM_000374,NR_036510 UROD,UROD EXON Missense_E130D,Silent Variant48356 1 45479385 [T/C] NM_000374,NR_036510 UROD,UROD EXON Synonymous_G132G,Silent Variant48357 1 45479413 [T/C] NM_000374,NR_036510 UROD,UROD EXON Nonsense_R142X,Silent rs147374926 1 45479431 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R148C,Silent exm54722 1 45479431 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R148C,Silent 1:45479438 1 45479438 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_P150L,Silent Variant48358 1 45479456 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_G156D,Silent newrs150702733 1 45479585 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_T160I,Silent 1:45479600-T-G 1 45479600 [T/G] NM_000374,NR_036510 UROD,UROD EXON Missense_M165R,Silent 1:45479627-TC 1 45479627 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_M174T,Silent 1:45479684-GA 1 45479684 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_R193H,Silent 1:45479689-C-T 1 45479689 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_L195F,Silent exm2251840 1 45479709 [A/G] NM_000374,NR_036510 UROD,UROD EXON Synonymous_P201P,Silent Variant48360 1 45479722 [T/C] NM_000374,NR_036510 UROD,UROD EXON Nonsense_Q206X,Silent indel.3040 1 45479743 [I/D] NM_000374,NR_036510 UROD,UROD exm54742 1 45480219 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R249W,Silent exm54744 1 45480232 [T/A] NM_000374,NR_036510 UROD,UROD EXON Missense_L253Q,Silent seq-rs121918057.1 1 45480475 [T/G] NM_000374,NR_036510 UROD,UROD EXON Missense_G281V,Silent 1:45480475-G-T 1 45480475 [T/G] NM_000374,NR_036510 UROD,UROD EXON Missense_G281V,Silent seq-rs121918057 1 45480475 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_G281E,Silent rs121918059 1 45480507 [G/C] NM_000374,NR_036510 UROD,UROD EXON Missense_R292G,Silent Variant48365 1 45480627 [T/G] NM_000374,NR_036510 UROD,UROD EXON Missense_K297N,Silent 1:45480648-C-A 1 45480648 [A/C] NM_000374,NR_036510 UROD,UROD EXON Missense_N304K,Silent rs121918065 1 45480648 [A/C] NM_000374,NR_036510 UROD,UROD EXON Missense_N304K,Silent rs121918061 1 45480668 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_Y311C,Silent Variant48367 1 45480668 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_Y311C,Silent 1:45480678-G-A 1 45480678 [A/G] NM_000374,NR_036510 UROD,UROD EXON Synonymous_E314E,Silent exm54753 1 45481018 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_G318R,Silent rs121918066 1 45481061 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_R332H,Silent 1:45481061-GA 1 45481061 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_R332H,Silent Variant48370 1 45481073 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_N336S,Silent JHU_1.45482003 1 45482004 [T/C] JHU_1.45483811 1 45483812 [C/G] NM_020883 ZSWIM5 EXON Silent 1:45483936-T-A 1 45483936 [A/T] NM_020883 ZSWIM5 EXON Silent 1:45484403-CT 1 45484403 [T/C] NM_020883 ZSWIM5 EXON Missense_R1094H exm54777 1 45484448 [T/C] NM_020883 ZSWIM5 EXON Missense_R1079Q 1:45484701-TC 1 45484701 [T/C] NM_020883 ZSWIM5 EXON Missense_M995V 1:45484983-GA 1 45484983 [A/G] NM_020883 ZSWIM5 EXON Missense_R901W 1:45485743-TG 1 45485743 [T/G] NM_020883 ZSWIM5 EXON Missense_E897A 1:45500002-TC 1 45500002 [T/C] NM_020883 ZSWIM5 EXON Missense_M811V exm54798 1 45500046 [A/G] NM_020883 ZSWIM5 EXON Missense_T796M exm54801 1 45500083 [T/C] NM_020883 ZSWIM5 EXON Missense_V784M exm54803 1 45500107 [T/C] NM_020883 ZSWIM5 EXON Missense_D776N exm2233462 1 45501415 [A/C] NM_020883 ZSWIM5 EXON Missense_A746S exm54805 1 45501746 [T/G] NM_020883 ZSWIM5 EXON Missense_Q707P 1:45501804-TG 1 45501804 [T/G] NM_020883 ZSWIM5 EXON Missense_N688H exm54810 1 45501806 [A/C] NM_020883 ZSWIM5 EXON Missense_R687L exm2233463 1 45501938 [T/C] NM_020883 ZSWIM5 EXON Missense_H643R exm54820 1 45501951 [A/G] NM_020883 ZSWIM5 EXON Missense_P639S exm1814910 1 45501963 [T/C] NM_020883 ZSWIM5 EXON Missense_E635K rs10736425 1 45503552 [A/G] NM_020883 ZSWIM5 Silent exm54823 1 45504640 [T/C] NM_020883 ZSWIM5 EXON Missense_R621H rs11579369 1 45507115 [T/C] NM_020883 ZSWIM5 Silent 1:45508959-GA 1 45508959 [A/G] NM_020883 ZSWIM5 EXON Missense_T514I variant.3050 1 45508984 [A/G] NM_020883 ZSWIM5 EXON Nonsense_R506X exm54838 1 45509001 [T/C] NM_020883 ZSWIM5 EXON Missense_Q500R 1:45509044-TC 1 45509044 [T/C] NM_020883 ZSWIM5 EXON Missense_T486A variant.3051 1 45509047 [A/G] NM_020883 ZSWIM5 EXON Nonsense_R485X JHU_1.45511098 1 45511099 [T/C] NM_020883 ZSWIM5 Silent exm54846 1 45524311 [T/C] NM_020883 ZSWIM5 EXON Missense_D408N exm54851 1 45524416 [A/G] NM_020883 ZSWIM5 EXON Missense_R373W 1:45525815-CT 1 45525815 [T/C] NM_020883 ZSWIM5 EXON Missense_G353S variant.3053 1 45525920 [A/C] NM_020883 ZSWIM5 Silent rs116853739 1 45529003 [C/G] NM_020883 ZSWIM5 Silent rs10789455 1 45529404 [T/C] NM_020883 ZSWIM5 Silent rs16832411 1 45529693 [A/G] NM_020883 ZSWIM5 Silent exm54865 1 45553637 [T/C] NM_020883 ZSWIM5 EXON Missense_A290T exm54870 1 45553712 [A/G] NM_020883 ZSWIM5 EXON Missense_R265C exm54871 1 45553735 [T/C] NM_020883 ZSWIM5 EXON Missense_R257H JHU_1.45554672 1 45554673 [T/C] NM_020883 ZSWIM5 Silent JHU_1.45563517 1 45563518 [T/C] NM_020883 ZSWIM5 Silent JHU_1.45570475 1 45570476 [G/C] NM_020883 ZSWIM5 Silent JHU_1.45579012 1 45579013 [T/C] NM_020883 ZSWIM5 Silent JHU_1.45590723 1 45590724 [T/C] NM_020883 ZSWIM5 Silent rs12063926 1 45596831 [A/C] NM_020883 ZSWIM5 Silent JHU_1.45607474 1 45607475 [A/G] NM_020883 ZSWIM5 Silent JHU_1.45607477 1 45607478 [A/T] NM_020883 ZSWIM5 Silent rs144268915 1 45634462 [A/G] NM_020883 ZSWIM5 Silent 1:45638486-T-C 1 45638486 [T/C] NM_020883 ZSWIM5 Silent rs1226747 1 45640116 [G/C] NM_020883 ZSWIM5 Silent rs3009969 1 45645069 [T/C] NM_020883 ZSWIM5 Silent JHU_1.45653840 1 45653841 [T/C] NM_020883 ZSWIM5 Silent JHU_1.45659626 1 45659627 [T/C] NM_020883 ZSWIM5 Silent rs72684485 1 45660163 [T/C] NM_020883 ZSWIM5 Silent JHU_1.45660162 1 45660163 [T/C] NM_020883 ZSWIM5 Silent rs116719334 1 45661997 [T/G] NM_020883 ZSWIM5 Silent 1:45671470-GT 1 45671470 [T/G] NM_020883 ZSWIM5 EXON Missense_R185S exm54885 1 45671736 [T/C] NM_020883 ZSWIM5 EXON Missense_R96H 1:45671790-GT 1 45671790 [T/G] NM_020883 ZSWIM5 EXON Missense_A78E 1:45671940-GT 1 45671940 [T/G] NM_020883 ZSWIM5 EXON Missense_P28Q 1:45671943-CA 1 45671943 [A/C] NM_020883 ZSWIM5 EXON Missense_S27I rs77482193 1 45672849 [A/G] rs75876057 1 45692049 [T/G] rs11211086 1 45710771 [T/G] rs138129971 1 45732108 [A/G] rs77242764 1 45745671 [A/G] rs11211091 1 45757124 [T/C] 1:45761696-C-T 1 45761696 [T/C] rs4233496 1 45763650 [A/C] rs148761270 1 45766151 [G/C] JHU_1.45766660 1 45766661 [T/C] rs57013566 1 45775622 [T/C] JHU_1.45780014 1 45780015 [T/C] exm2265004 1 45788479 [A/G] rs12026893 1 45788479 [A/G] JHU_1.45790343 1 45790344 [T/C] 1:45792827-GA 1 45792827 [A/G] NM_032756 HPDL EXON Missense_A3T 1:45792998-GA 1 45792998 [A/G] NM_032756 HPDL EXON Missense_A60T 1:45793040-GT 1 45793040 [T/G] NM_032756 HPDL EXON Missense_A74S 1:45793043-GA 1 45793043 [A/G] NM_032756 HPDL EXON Missense_V75M 1:45793082-GT 1 45793082 [T/G] NM_032756 HPDL EXON Missense_A88S 1:45793363-CA 1 45793363 [A/C] NM_032756 HPDL EXON Missense_H181Q 1:45793566-CT 1 45793566 [T/C] NM_032756 HPDL EXON Missense_A249V 1:45793679-TC 1 45793679 [T/C] NM_032756 HPDL EXON Missense_Y287H exm54934 1 45793689 [A/G] NM_032756 HPDL EXON Missense_Q290R exm1815439 1 45793724 [T/C] NM_032756 HPDL EXON Missense_H302Y exm54938 1 45793745 [C/G] NM_032756 HPDL EXON Missense_R309G exm54941 1 45793780 [G/C] NM_032756 HPDL EXON Missense_K320N 1:45793815-CT 1 45793815 [T/C] NM_032756 HPDL EXON Missense_T332I 1:45793825-CTT-C 1 45793825 [I/D] NM_032756 HPDL EXON exm54942 1 45793833 [T/C] NM_032756 HPDL EXON Missense_L338P 1:45794882-G-A 1 45794882 [A/G] ilmnseq_rs587780086 1 45794988 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON 1:45795002 1 45795002 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_H422H,Synonymous_H422H,Silent,Synonymous_H514H,Synonymous_H525H,Synonymous_H529H,Synonymous_H542H,Synonymous_H514H,Synonymous_H515H,Synonymous_H528H,Synonymous_H539H,Synonymous_H399H,Synonymous_H514H,Synonymous_H399H ilmnseq_rs751053826 1 45795006 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A421V,Missense_A421V,Silent,Missense_A513V,Missense_A524V,Missense_A528V,Missense_A541V,Missense_A513V,Missense_A514V,Missense_A527V,Missense_A538V,Missense_A398V,Missense_A513V,Missense_A398V ilmnseq_rs756708148 1 45795011 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_T419T,Synonymous_T419T,Silent,Synonymous_T511T,Synonymous_T522T,Synonymous_T526T,Synonymous_T539T,Synonymous_T511T,Synonymous_T512T,Synonymous_T525T,Synonymous_T536T,Synonymous_T396T,Synonymous_T511T,Synonymous_T396T ilmnseq_rs151196169 1 45795013 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_T419A,Missense_T419A,Silent,Missense_T511A,Missense_T522A,Missense_T526A,Missense_T539A,Missense_T511A,Missense_T512A,Missense_T525A,Missense_T536A,Missense_T396A,Missense_T511A,Missense_T396A exm54952 1 45795027 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R414Q,Missense_R414Q,Silent,Missense_R506Q,Missense_R517Q,Missense_R521Q,Missense_R534Q,Missense_R506Q,Missense_R507Q,Missense_R520Q,Missense_R531Q,Missense_R391Q,Missense_R506Q,Missense_R391Q rs144616312 1 45795028 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_R414R,Synonymous_R414R,Silent,Synonymous_R506R,Synonymous_R517R,Synonymous_R521R,Synonymous_R534R,Synonymous_R506R,Synonymous_R507R,Synonymous_R520R,Synonymous_R531R,Synonymous_R391R,Synonymous_R506R,Synonymous_R391R ilmnseq_rs768671057 1 45795032 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_F412L,Missense_F412L,Silent,Missense_F504L,Missense_F515L,Missense_F519L,Missense_F532L,Missense_F504L,Missense_F505L,Missense_F518L,Missense_F529L,Missense_F389L,Missense_F504L,Missense_F389L ilmnseq_rs876659054 1 45795035 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_N411N,Synonymous_N411N,Silent,Synonymous_N503N,Synonymous_N514N,Synonymous_N518N,Synonymous_N531N,Synonymous_N503N,Synonymous_N504N,Synonymous_N517N,Synonymous_N528N,Synonymous_N388N,Synonymous_N503N,Synonymous_N388N rs147923905 1 45795040 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_D410Y,Missense_D410Y,Silent,Missense_D502Y,Missense_D513Y,Missense_D517Y,Missense_D530Y,Missense_D502Y,Missense_D503Y,Missense_D516Y,Missense_D527Y,Missense_D387Y,Missense_D502Y,Missense_D387Y exm54953 1 45795040 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_D410Y,Missense_D410Y,Silent,Missense_D502Y,Missense_D513Y,Missense_D517Y,Missense_D530Y,Missense_D502Y,Missense_D503Y,Missense_D516Y,Missense_D527Y,Missense_D387Y,Missense_D502Y,Missense_D387Y 1:45795043-GT 1 45795043 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_L409M,Missense_L409M,Silent,Missense_L501M,Missense_L512M,Missense_L516M,Missense_L529M,Missense_L501M,Missense_L502M,Missense_L515M,Missense_L526M,Missense_L386M,Missense_L501M,Missense_L386M rs3219496 1 45795043 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_L409M,Missense_L409M,Silent,Missense_L501M,Missense_L512M,Missense_L516M,Missense_L529M,Missense_L501M,Missense_L502M,Missense_L515M,Missense_L526M,Missense_L386M,Missense_L501M,Missense_L386M ilmnseq_rs374655042 1 45795060 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R403H,Missense_R403H,Silent,Missense_R495H,Missense_R506H,Missense_R510H,Missense_R523H,Missense_R495H,Missense_R496H,Missense_R509H,Missense_R520H,Missense_R380H,Missense_R495H,Missense_R380H ilmnseq_rs147480076 1 45795061 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R403C,Missense_R403C,Silent,Missense_R495C,Missense_R506C,Missense_R510C,Missense_R523C,Missense_R495C,Missense_R496C,Missense_R509C,Missense_R520C,Missense_R380C,Missense_R495C,Missense_R380C ilmnseq_rs369410616 1 45795072 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R399Q,Missense_R399Q,Silent,Missense_R491Q,Missense_R502Q,Missense_R506Q,Missense_R519Q,Missense_R491Q,Missense_R492Q,Missense_R505Q,Missense_R516Q,Missense_R376Q,Missense_R491Q,Missense_R376Q ilmnseq_rs878854186 1 45795076 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON rs878854186 1 45795076 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON 1:45329406 1 45795077 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs143796254 1 45795080 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_P396P,Synonymous_P396P,Silent,Synonymous_P488P,Synonymous_P499P,Synonymous_P503P,Synonymous_P516P,Synonymous_P488P,Synonymous_P489P,Synonymous_P502P,Synonymous_P513P,Synonymous_P373P,Synonymous_P488P,Synonymous_P373P ilmnseq_rs587778542 1 45795081 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_P396L,Missense_P396L,Silent,Missense_P488L,Missense_P499L,Missense_P503L,Missense_P516L,Missense_P488L,Missense_P489L,Missense_P502L,Missense_P513L,Missense_P373L,Missense_P488L,Missense_P373L exm54959 1 45795084 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_S395F,Missense_S395F,Silent,Missense_S487F,Missense_S498F,Missense_S502F,Missense_S515F,Missense_S487F,Missense_S488F,Missense_S501F,Missense_S512F,Missense_S372F,Missense_S487F,Missense_S372F ilmnseq_rs1000260695 1 45795086 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_S394S,Synonymous_S394S,Silent,Synonymous_S486S,Synonymous_S497S,Synonymous_S501S,Synonymous_S514S,Synonymous_S486S,Synonymous_S487S,Synonymous_S500S,Synonymous_S511S,Synonymous_S371S,Synonymous_S486S,Synonymous_S371S ilmnseq_rs780209880 1 45795091 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V393L,Missense_V393L,Silent,Missense_V485L,Missense_V496L,Missense_V500L,Missense_V513L,Missense_V485L,Missense_V486L,Missense_V499L,Missense_V510L,Missense_V370L,Missense_V485L,Missense_V370L ilmnseq_rs796921537 1 45795096 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_S391F,Missense_S391F,Silent,Missense_S483F,Missense_S494F,Missense_S498F,Missense_S511F,Missense_S483F,Missense_S484F,Missense_S497F,Missense_S508F,Missense_S368F,Missense_S483F,Missense_S368F ilmnseq_rs747201171 1 45795098 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_R390R,Synonymous_R390R,Silent,Synonymous_R482R,Synonymous_R493R,Synonymous_R497R,Synonymous_R510R,Synonymous_R482R,Synonymous_R483R,Synonymous_R496R,Synonymous_R507R,Synonymous_R367R,Synonymous_R482R,Synonymous_R367R 1:45795105 1 45795105 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_S388Y,Missense_S388Y,Silent,Missense_S480Y,Missense_S491Y,Missense_S495Y,Missense_S508Y,Missense_S480Y,Missense_S481Y,Missense_S494Y,Missense_S505Y,Missense_S365Y,Missense_S480Y,Missense_S365Y IlmnSeq_rs876659420 1 45796187 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs1064793656 1 45796192 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_C385Y,Missense_C385Y,Silent,Missense_C477Y,Missense_C488Y,Missense_C492Y,Missense_C505Y,Missense_C477Y,Missense_C478Y,Missense_C491Y,Missense_C502Y,Missense_C362Y,Missense_C477Y,Missense_C362Y 1:45796198-CT 1 45796198 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G383E,Missense_G383E,Silent,Missense_G475E,Missense_G486E,Missense_G490E,Missense_G503E,Missense_G475E,Missense_G476E,Missense_G489E,Missense_G500E,Missense_G360E,Missense_G475E,Missense_G360E ilmnseq_rs876660675_mnv 1 45796204 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Q381R,Missense_Q381R,Silent,Missense_Q473R,Missense_Q484R,Missense_Q488R,Missense_Q501R,Missense_Q473R,Missense_Q474R,Missense_Q487R,Missense_Q498R,Missense_Q358R,Missense_Q473R,Missense_Q358R rs876660675_mnv 1 45796204 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Q381R,Missense_Q381R,Silent,Missense_Q473R,Missense_Q484R,Missense_Q488R,Missense_Q501R,Missense_Q473R,Missense_Q474R,Missense_Q487R,Missense_Q498R,Missense_Q358R,Missense_Q473R,Missense_Q358R 1:45796211 1 45796211 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G379S,Missense_G379S,Silent,Missense_G471S,Missense_G482S,Missense_G486S,Missense_G499S,Missense_G471S,Missense_G472S,Missense_G485S,Missense_G496S,Missense_G356S,Missense_G471S,Missense_G356S ilmnseq_rs587780085 1 45796213 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Q378R,Missense_Q378R,Silent,Missense_Q470R,Missense_Q481R,Missense_Q485R,Missense_Q498R,Missense_Q470R,Missense_Q471R,Missense_Q484R,Missense_Q495R,Missense_Q355R,Missense_Q470R,Missense_Q355R 1:45796215 1 45796215 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Y377X,Nonsense_Y377X,Silent,Nonsense_Y469X,Nonsense_Y480X,Nonsense_Y484X,Nonsense_Y497X,Nonsense_Y469X,Nonsense_Y470X,Nonsense_Y483X,Nonsense_Y494X,Nonsense_Y354X,Nonsense_Y469X,Nonsense_Y354X rs587781385 1 45796220 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V376M,Missense_V376M,Silent,Missense_V468M,Missense_V479M,Missense_V483M,Missense_V496M,Missense_V468M,Missense_V469M,Missense_V482M,Missense_V493M,Missense_V353M,Missense_V468M,Missense_V353M ilmnseq_rs144111588 1 45796222 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R375H,Missense_R375H,Silent,Missense_R467H,Missense_R478H,Missense_R482H,Missense_R495H,Missense_R467H,Missense_R468H,Missense_R481H,Missense_R492H,Missense_R352H,Missense_R467H,Missense_R352H ilmnseq_rs587781668 1 45796223 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R375C,Missense_R375C,Silent,Missense_R467C,Missense_R478C,Missense_R482C,Missense_R495C,Missense_R467C,Missense_R468C,Missense_R481C,Missense_R492C,Missense_R352C,Missense_R467C,Missense_R352C Variant48372 1 45796229 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V373F,Missense_V373F,Silent,Missense_V465F,Missense_V476F,Missense_V480F,Missense_V493F,Missense_V465F,Missense_V466F,Missense_V479F,Missense_V490F,Missense_V350F,Missense_V465F,Missense_V350F seq-rs587782228.1 1 45796229 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V373F,Missense_V373F,Silent,Missense_V465F,Missense_V476F,Missense_V480F,Missense_V493F,Missense_V465F,Missense_V466F,Missense_V479F,Missense_V490F,Missense_V350F,Missense_V465F,Missense_V350F seq-rs587782228 1 45796229 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V373I,Missense_V373I,Silent,Missense_V465I,Missense_V476I,Missense_V480I,Missense_V493I,Missense_V465I,Missense_V466I,Missense_V479I,Missense_V490I,Missense_V350I,Missense_V465I,Missense_V350I ilmnseq_rs1057517459 1 45796230 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs1060501330 1 45796232 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs763940868 1 45796236 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH ilmnseq_rs868701952 1 45796240 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3219492 1 45796354 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent MUTYH-chr1-45796848 1 45796848 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH exm54967 1 45796852 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs140288388 1 45796852 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent IlmnSeq_rs863224502 1 45796856 [T/A] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_K372X,Nonsense_K372X,Silent,Nonsense_K464X,Nonsense_K475X,Nonsense_K479X,Nonsense_K492X,Nonsense_K464X,Nonsense_K465X,Nonsense_K478X,Nonsense_K489X,Nonsense_K349X,Nonsense_K464X,Nonsense_K349X rs863224502 1 45796856 [T/A] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_K372X,Nonsense_K372X,Silent,Nonsense_K464X,Nonsense_K475X,Nonsense_K479X,Nonsense_K492X,Nonsense_K464X,Nonsense_K465X,Nonsense_K478X,Nonsense_K489X,Nonsense_K349X,Nonsense_K464X,Nonsense_K349X IlmnSeq_rs876660774 1 45796859 [A/T] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_K371X,Nonsense_K371X,Silent,Nonsense_K463X,Nonsense_K474X,Nonsense_K478X,Nonsense_K491X,Nonsense_K463X,Nonsense_K464X,Nonsense_K477X,Nonsense_K488X,Nonsense_K348X,Nonsense_K463X,Nonsense_K348X ilmnseq_rs587782263 1 45796865 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A369T,Missense_A369T,Silent,Missense_A461T,Missense_A472T,Missense_A476T,Missense_A489T,Missense_A461T,Missense_A462T,Missense_A475T,Missense_A486T,Missense_A346T,Missense_A461T,Missense_A346T ilmnseq_rs373973053 1 45796866 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_T368T,Synonymous_T368T,Silent,Synonymous_T460T,Synonymous_T471T,Synonymous_T475T,Synonymous_T488T,Synonymous_T460T,Synonymous_T461T,Synonymous_T474T,Synonymous_T485T,Synonymous_T345T,Synonymous_T460T,Synonymous_T345T ilmnseq_rs587776618 1 45796869 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Ilmnseq_rs150269172 1 45796881 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_T363T,Synonymous_T363T,Silent,Synonymous_T455T,Synonymous_T466T,Synonymous_T470T,Synonymous_T483T,Synonymous_T455T,Synonymous_T456T,Synonymous_T469T,Synonymous_T480T,Synonymous_T340T,Synonymous_T455T,Synonymous_T340T 1:45331211 1 45796882 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs587778541 1 45796891 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Variant15898 1 45796891 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs121908381_ilmndup1 1 45796892 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_E360X,Nonsense_E360X,Silent,Nonsense_E452X,Nonsense_E463X,Nonsense_E467X,Nonsense_E480X,Nonsense_E452X,Nonsense_E453X,Nonsense_E466X,Nonsense_E477X,Nonsense_E337X,Nonsense_E452X,Nonsense_E337X rs121908381 1 45796892 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_E360X,Nonsense_E360X,Silent,Nonsense_E452X,Nonsense_E463X,Nonsense_E467X,Nonsense_E480X,Nonsense_E452X,Nonsense_E453X,Nonsense_E466X,Nonsense_E477X,Nonsense_E337X,Nonsense_E452X,Nonsense_E337X ilmnseq_rs121908381_ilmndup2 1 45796892 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_E360X,Nonsense_E360X,Silent,Nonsense_E452X,Nonsense_E463X,Nonsense_E467X,Nonsense_E480X,Nonsense_E452X,Nonsense_E453X,Nonsense_E466X,Nonsense_E477X,Nonsense_E337X,Nonsense_E452X,Nonsense_E337X ilmnseq_rs121908381_ilmndup3 1 45796892 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_E360X,Nonsense_E360X,Silent,Nonsense_E452X,Nonsense_E463X,Nonsense_E467X,Nonsense_E480X,Nonsense_E452X,Nonsense_E453X,Nonsense_E466X,Nonsense_E477X,Nonsense_E337X,Nonsense_E452X,Nonsense_E337X rs376790729_ilmndup1 1 45796895 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_E359K,Missense_E359K,Silent,Missense_E451K,Missense_E462K,Missense_E466K,Missense_E479K,Missense_E451K,Missense_E452K,Missense_E465K,Missense_E476K,Missense_E336K,Missense_E451K,Missense_E336K rs376790729 1 45796895 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_E359K,Missense_E359K,Silent,Missense_E451K,Missense_E462K,Missense_E466K,Missense_E479K,Missense_E451K,Missense_E452K,Missense_E465K,Missense_E476K,Missense_E336K,Missense_E451K,Missense_E336K rs200229669 1 45796910 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R354C,Missense_R354C,Silent,Missense_R446C,Missense_R457C,Missense_R461C,Missense_R474C,Missense_R446C,Missense_R447C,Missense_R460C,Missense_R471C,Missense_R331C,Missense_R446C,Missense_R331C rs200844166 1 45796912 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A353D,Missense_A353D,Silent,Missense_A445D,Missense_A456D,Missense_A460D,Missense_A473D,Missense_A445D,Missense_A446D,Missense_A459D,Missense_A470D,Missense_A330D,Missense_A445D,Missense_A330D exm1815462 1 45796912 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A353D,Missense_A353D,Silent,Missense_A445D,Missense_A456D,Missense_A460D,Missense_A473D,Missense_A445D,Missense_A446D,Missense_A459D,Missense_A470D,Missense_A330D,Missense_A445D,Missense_A330D Variant48374 1 45796913 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A353T,Missense_A353T,Silent,Missense_A445T,Missense_A456T,Missense_A460T,Missense_A473T,Missense_A445T,Missense_A446T,Missense_A459T,Missense_A470T,Missense_A330T,Missense_A445T,Missense_A330T ilmnseq_rs779701238 1 45796925 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V349I,Missense_V349I,Silent,Missense_V441I,Missense_V452I,Missense_V456I,Missense_V469I,Missense_V441I,Missense_V442I,Missense_V455I,Missense_V466I,Missense_V326I,Missense_V441I,Missense_V326I 1:45796928 1 45796927 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON 1:45331263_IlmnRev 1 45796934 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs768239149 1 45796935 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_P345P,Synonymous_P345P,Silent,Synonymous_P437P,Synonymous_P448P,Synonymous_P452P,Synonymous_P465P,Synonymous_P437P,Synonymous_P438P,Synonymous_P451P,Synonymous_P462P,Synonymous_P322P,Synonymous_P437P,Synonymous_P322P ilmnseq_rs876660697 1 45796936 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_P345L,Missense_P345L,Silent,Missense_P437L,Missense_P448L,Missense_P452L,Missense_P465L,Missense_P437L,Missense_P438L,Missense_P451L,Missense_P462L,Missense_P322L,Missense_P437L,Missense_P322L ilmnseq_rs786202812 1 45796938 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_T344T,Synonymous_T344T,Silent,Synonymous_T436T,Synonymous_T447T,Synonymous_T451T,Synonymous_T464T,Synonymous_T436T,Synonymous_T437T,Synonymous_T450T,Synonymous_T461T,Synonymous_T321T,Synonymous_T436T,Synonymous_T321T variant.3062 1 45796969 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Q334P,Missense_Q334P,Silent,Missense_Q426P,Missense_Q437P,Missense_Q441P,Missense_Q454P,Missense_Q426P,Missense_Q427P,Missense_Q440P,Missense_Q451P,Missense_Q311P,Missense_Q426P,Missense_Q311P 1:45331302 1 45796974 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs876660604 1 45796977 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L331L,Synonymous_L331L,Silent,Synonymous_L423L,Synonymous_L434L,Synonymous_L438L,Synonymous_L451L,Synonymous_L423L,Synonymous_L424L,Synonymous_L437L,Synonymous_L448L,Synonymous_L308L,Synonymous_L423L,Synonymous_L308L rs767996570 1 45796984 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_I329S,Missense_I329S,Silent,Missense_I421S,Missense_I432S,Missense_I436S,Missense_I449S,Missense_I421S,Missense_I422S,Missense_I435S,Missense_I446S,Missense_I306S,Missense_I421S,Missense_I306S 1:45796986 1 45796986 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_H328H,Synonymous_H328H,Silent,Synonymous_H420H,Synonymous_H431H,Synonymous_H435H,Synonymous_H448H,Synonymous_H420H,Synonymous_H421H,Synonymous_H434H,Synonymous_H445H,Synonymous_H305H,Synonymous_H420H,Synonymous_H305H rs876659414 1 45796988 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs876659414 1 45796988 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON rs747232389 1 45796991 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs747232389 1 45796991 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs764366493 1 45796998 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_H324H,Synonymous_H324H,Silent,Synonymous_H416H,Synonymous_H427H,Synonymous_H431H,Synonymous_H444H,Synonymous_H416H,Synonymous_H417H,Synonymous_H430H,Synonymous_H441H,Synonymous_H301H,Synonymous_H416H,Synonymous_H301H IlmnSeq_rs876660837 1 45797007 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs184154021 1 45797026 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs200643518 1 45797079 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.3063 1 45797092 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_E321E,Synonymous_E321E,Silent,Synonymous_E413E,Synonymous_E424E,Synonymous_E428E,Synonymous_E441E,Synonymous_E413E,Synonymous_E414E,Synonymous_E427E,Synonymous_E438E,Synonymous_E298E,Synonymous_E413E,Synonymous_E298E 1:45797094 1 45797094 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs587780745 1 45797099 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_L319P,Missense_L319P,Silent,Missense_L411P,Missense_L422P,Missense_L426P,Missense_L439P,Missense_L411P,Missense_L412P,Missense_L425P,Missense_L436P,Missense_L296P,Missense_L411P,Missense_L296P rs199575659 1 45797104 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_R317R,Synonymous_R317R,Silent,Synonymous_R409R,Synonymous_R420R,Synonymous_R424R,Synonymous_R437R,Synonymous_R409R,Synonymous_R410R,Synonymous_R423R,Synonymous_R434R,Synonymous_R294R,Synonymous_R409R,Synonymous_R294R rs587778540 1 45797106 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R317W,Missense_R317W,Silent,Missense_R409W,Missense_R420W,Missense_R424W,Missense_R437W,Missense_R409W,Missense_R410W,Missense_R423W,Missense_R434W,Missense_R294W,Missense_R409W,Missense_R294W rs752408891 1 45797125 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_P310P,Synonymous_P310P,Silent,Synonymous_P402P,Synonymous_P413P,Synonymous_P417P,Synonymous_P430P,Synonymous_P402P,Synonymous_P403P,Synonymous_P416P,Synonymous_P427P,Synonymous_P287P,Synonymous_P402P,Synonymous_P287P 1:45331454_IlmnFwd 1 45797126 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs755651654 1 45797128 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_G309G,Synonymous_G309G,Silent,Synonymous_G401G,Synonymous_G412G,Synonymous_G416G,Synonymous_G429G,Synonymous_G401G,Synonymous_G402G,Synonymous_G415G,Synonymous_G426G,Synonymous_G286G,Synonymous_G401G,Synonymous_G286G ilmnseq_rs1060501326 1 45797132 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A308V,Missense_A308V,Silent,Missense_A400V,Missense_A411V,Missense_A415V,Missense_A428V,Missense_A400V,Missense_A401V,Missense_A414V,Missense_A425V,Missense_A285V,Missense_A400V,Missense_A285V 1:45797134 1 45797134 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_W307X,Nonsense_W307X,Silent,Nonsense_W399X,Nonsense_W410X,Nonsense_W414X,Nonsense_W427X,Nonsense_W399X,Nonsense_W400X,Nonsense_W413X,Nonsense_W424X,Nonsense_W284X,Nonsense_W399X,Nonsense_W284X exm54981 1 45797139 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R306C,Missense_R306C,Silent,Missense_R398C,Missense_R409C,Missense_R413C,Missense_R426C,Missense_R398C,Missense_R399C,Missense_R412C,Missense_R423C,Missense_R283C,Missense_R398C,Missense_R283C rs150792276 1 45797139 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R306C,Missense_R306C,Silent,Missense_R398C,Missense_R409C,Missense_R413C,Missense_R426C,Missense_R398C,Missense_R399C,Missense_R412C,Missense_R423C,Missense_R283C,Missense_R398C,Missense_R283C 1:45331474_MNV 1 45797146 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_E303D,Missense_E303D,Silent,Missense_E395D,Missense_E406D,Missense_E410D,Missense_E423D,Missense_E395D,Missense_E396D,Missense_E409D,Missense_E420D,Missense_E280D,Missense_E395D,Missense_E280D rs1060501321 1 45797148 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_E303X,Nonsense_E303X,Silent,Nonsense_E395X,Nonsense_E406X,Nonsense_E410X,Nonsense_E423X,Nonsense_E395X,Nonsense_E396X,Nonsense_E409X,Nonsense_E420X,Nonsense_E280X,Nonsense_E395X,Nonsense_E280X ilmnseq_rs878854184 1 45797152 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L301L,Synonymous_L301L,Silent,Synonymous_L393L,Synonymous_L404L,Synonymous_L408L,Synonymous_L421L,Synonymous_L393L,Synonymous_L394L,Synonymous_L407L,Synonymous_L418L,Synonymous_L278L,Synonymous_L393L,Synonymous_L278L rs144079536 1 45797157 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_L300M,Missense_L300M,Silent,Missense_L392M,Missense_L403M,Missense_L407M,Missense_L420M,Missense_L392M,Missense_L393M,Missense_L406M,Missense_L417M,Missense_L277M,Missense_L392M,Missense_L277M ilmnseq_rs369299948 1 45797159 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A299D,Missense_A299D,Silent,Missense_A391D,Missense_A402D,Missense_A406D,Missense_A419D,Missense_A391D,Missense_A392D,Missense_A405D,Missense_A416D,Missense_A276D,Missense_A391D,Missense_A276D ilmnseq_rs864622671 1 45797163 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_K298E,Missense_K298E,Silent,Missense_K390E,Missense_K401E,Missense_K405E,Missense_K418E,Missense_K390E,Missense_K391E,Missense_K404E,Missense_K415E,Missense_K275E,Missense_K390E,Missense_K275E ilmnseq_rs786202141 1 45797164 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_R297R,Synonymous_R297R,Silent,Synonymous_R389R,Synonymous_R400R,Synonymous_R404R,Synonymous_R417R,Synonymous_R389R,Synonymous_R390R,Synonymous_R403R,Synonymous_R414R,Synonymous_R274R,Synonymous_R389R,Synonymous_R274R ilmnseq_rs373803765 1 45797165 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R297H,Missense_R297H,Silent,Missense_R389H,Missense_R400H,Missense_R404H,Missense_R417H,Missense_R389H,Missense_R390H,Missense_R403H,Missense_R414H,Missense_R274H,Missense_R389H,Missense_R274H rs121908383 1 45797174 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Q294R,Missense_Q294R,Silent,Missense_Q386R,Missense_Q397R,Missense_Q401R,Missense_Q414R,Missense_Q386R,Missense_Q387R,Missense_Q400R,Missense_Q411R,Missense_Q271R,Missense_Q386R,Missense_Q271R ilmnseq_rs766420907 1 45797175 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q294X,Nonsense_Q294X,Silent,Nonsense_Q386X,Nonsense_Q397X,Nonsense_Q401X,Nonsense_Q414X,Nonsense_Q386X,Nonsense_Q387X,Nonsense_Q400X,Nonsense_Q411X,Nonsense_Q271X,Nonsense_Q386X,Nonsense_Q271X 1:45797187 1 45797185 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON rs587780078 1 45797186 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs587780078 1 45797186 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs587782690 1 45797187 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_E290K,Missense_E290K,Silent,Missense_E382K,Missense_E393K,Missense_E397K,Missense_E410K,Missense_E382K,Missense_E383K,Missense_E396K,Missense_E407K,Missense_E267K,Missense_E382K,Missense_E267K ilmnseq_rs876660539 1 45797196 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V287M,Missense_V287M,Silent,Missense_V379M,Missense_V390M,Missense_V394M,Missense_V407M,Missense_V379M,Missense_V380M,Missense_V393M,Missense_V404M,Missense_V264M,Missense_V379M,Missense_V264M seq-rs529008617 1 45797201 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_P285L,Missense_P285L,Silent,Missense_P377L,Missense_P388L,Missense_P392L,Missense_P405L,Missense_P377L,Missense_P378L,Missense_P391L,Missense_P402L,Missense_P262L,Missense_P377L,Missense_P262L Variant48377 1 45797201 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_P285L,Missense_P285L,Silent,Missense_P377L,Missense_P388L,Missense_P392L,Missense_P405L,Missense_P377L,Missense_P378L,Missense_P391L,Missense_P402L,Missense_P262L,Missense_P377L,Missense_P262L ilmnseq_rs876660199 1 45797206 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_E283E,Synonymous_E283E,Silent,Synonymous_E375E,Synonymous_E386E,Synonymous_E390E,Synonymous_E403E,Synonymous_E375E,Synonymous_E376E,Synonymous_E389E,Synonymous_E400E,Synonymous_E260E,Synonymous_E375E,Synonymous_E260E ilmnseq_rs886039606 1 45797216 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON rs886039606 1 45797216 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs201412035 1 45797224 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L277L,Synonymous_L277L,Silent,Synonymous_L369L,Synonymous_L380L,Synonymous_L384L,Synonymous_L397L,Synonymous_L369L,Synonymous_L370L,Synonymous_L383L,Synonymous_L394L,Synonymous_L254L,Synonymous_L369L,Synonymous_L254L exm54989 1 45797228 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G276D,Missense_G276D,Silent,Missense_G368D,Missense_G379D,Missense_G383D,Missense_G396D,Missense_G368D,Missense_G369D,Missense_G382D,Missense_G393D,Missense_G253D,Missense_G368D,Missense_G253D rs36053993 1 45797228 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G276D,Missense_G276D,Silent,Missense_G368D,Missense_G379D,Missense_G383D,Missense_G396D,Missense_G368D,Missense_G369D,Missense_G382D,Missense_G393D,Missense_G253D,Missense_G368D,Missense_G253D seq-rs587781628 1 45797230 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent Variant48379 1 45797230 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs760430312 1 45797315 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs369034810 1 45797316 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs587780742 1 45797324 [A/T] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent IlmnSeq_rs587781337 1 45797332 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent seq-rs587781337 1 45797332 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs749902808 1 45797337 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_N274N,Synonymous_N274N,Silent,Synonymous_N366N,Synonymous_N377N,Synonymous_N381N,Synonymous_N394N,Synonymous_N366N,Synonymous_N367N,Synonymous_N380N,Synonymous_N391N,Synonymous_N251N,Synonymous_N366N,Synonymous_N251N ilmnseq_rs984795084 1 45797347 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Q271R,Missense_Q271R,Silent,Missense_Q363R,Missense_Q374R,Missense_Q378R,Missense_Q391R,Missense_Q363R,Missense_Q364R,Missense_Q377R,Missense_Q388R,Missense_Q248R,Missense_Q363R,Missense_Q248R IlmnSeq_rs587783057 1 45797348 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q271X,Nonsense_Q271X,Silent,Nonsense_Q363X,Nonsense_Q374X,Nonsense_Q378X,Nonsense_Q391X,Nonsense_Q363X,Nonsense_Q364X,Nonsense_Q377X,Nonsense_Q388X,Nonsense_Q248X,Nonsense_Q363X,Nonsense_Q248X Variant48380 1 45797348 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q271X,Nonsense_Q271X,Silent,Nonsense_Q363X,Nonsense_Q374X,Nonsense_Q378X,Nonsense_Q391X,Nonsense_Q363X,Nonsense_Q364X,Nonsense_Q377X,Nonsense_Q388X,Nonsense_Q248X,Nonsense_Q363X,Nonsense_Q248X 1:45797355_mnv_ilmndup1 1 45797354 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L269L,Synonymous_L269L,Silent,Synonymous_L361L,Synonymous_L372L,Synonymous_L376L,Synonymous_L389L,Synonymous_L361L,Synonymous_L362L,Synonymous_L375L,Synonymous_L386L,Synonymous_L246L,Synonymous_L361L,Synonymous_L246L 1:45797355_mnv 1 45797354 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L269L,Synonymous_L269L,Silent,Synonymous_L361L,Synonymous_L372L,Synonymous_L376L,Synonymous_L389L,Synonymous_L361L,Synonymous_L362L,Synonymous_L375L,Synonymous_L386L,Synonymous_L246L,Synonymous_L361L,Synonymous_L246L 1:45797372-AG-A 1 45797372 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs778193554 1 45797373 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_A262A,Synonymous_A262A,Silent,Synonymous_A354A,Synonymous_A365A,Synonymous_A369A,Synonymous_A382A,Synonymous_A354A,Synonymous_A355A,Synonymous_A368A,Synonymous_A379A,Synonymous_A239A,Synonymous_A354A,Synonymous_A239A ilmnseq_rs587778539 1 45797378 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G261W,Missense_G261W,Silent,Missense_G353W,Missense_G364W,Missense_G368W,Missense_G381W,Missense_G353W,Missense_G354W,Missense_G367W,Missense_G378W,Missense_G238W,Missense_G353W,Missense_G238W ilmnseq_rs772113192 1 45797387 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_E258K,Missense_E258K,Silent,Missense_E350K,Missense_E361K,Missense_E365K,Missense_E378K,Missense_E350K,Missense_E351K,Missense_E364K,Missense_E375K,Missense_E235K,Missense_E350K,Missense_E235K rs1114167685_IlmnDup1 1 45797394 [A/T] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_C255X,Nonsense_C255X,Silent,Nonsense_C347X,Nonsense_C358X,Nonsense_C362X,Nonsense_C375X,Nonsense_C347X,Nonsense_C348X,Nonsense_C361X,Nonsense_C372X,Nonsense_C232X,Nonsense_C347X,Nonsense_C232X 1:45797398 1 45797398 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_T254I,Missense_T254I,Silent,Missense_T346I,Missense_T357I,Missense_T361I,Missense_T374I,Missense_T346I,Missense_T347I,Missense_T360I,Missense_T371I,Missense_T231I,Missense_T346I,Missense_T231I exm2233468 1 45797401 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A253V,Missense_A253V,Silent,Missense_A345V,Missense_A356V,Missense_A360V,Missense_A373V,Missense_A345V,Missense_A346V,Missense_A359V,Missense_A370V,Missense_A230V,Missense_A345V,Missense_A230V ilmnseq_rs763862261 1 45797404 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_S252F,Missense_S252F,Silent,Missense_S344F,Missense_S355F,Missense_S359F,Missense_S372F,Missense_S344F,Missense_S345F,Missense_S358F,Missense_S369F,Missense_S229F,Missense_S344F,Missense_S229F Variant2112 1 45797417 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Variant48381 1 45797417 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R248G,Missense_R248G,Silent,Missense_R340G,Missense_R351G,Missense_R355G,Missense_R368G,Missense_R340G,Missense_R341G,Missense_R354G,Missense_R365G,Missense_R225G,Missense_R340G,Missense_R225G exm54991 1 45797429 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R244C,Missense_R244C,Silent,Missense_R336C,Missense_R347C,Missense_R351C,Missense_R364C,Missense_R336C,Missense_R337C,Missense_R350C,Missense_R361C,Missense_R221C,Missense_R336C,Missense_R221C rs1057517456 1 45797441 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs1060501323 1 45797443 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_P239L,Missense_P239L,Silent,Missense_P331L,Missense_P342L,Missense_P346L,Missense_P359L,Missense_P331L,Missense_P332L,Missense_P345L,Missense_P356L,Missense_P216L,Missense_P331L,Missense_P216L ilmnseq_rs587782773 1 45797444 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_P239T,Missense_P239T,Silent,Missense_P331T,Missense_P342T,Missense_P346T,Missense_P359T,Missense_P331T,Missense_P332T,Missense_P345T,Missense_P356T,Missense_P216T,Missense_P331T,Missense_P216T 1:45797472 1 45797472 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_W229X,Nonsense_W229X,Silent,Nonsense_W321X,Nonsense_W332X,Nonsense_W336X,Nonsense_W349X,Nonsense_W321X,Nonsense_W322X,Nonsense_W335X,Nonsense_W346X,Nonsense_W206X,Nonsense_W321X,Nonsense_W206X 1:45331801_IlmnRev 1 45797473 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON 1:45331801_IlmnFwd 1 45797473 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON rs372673338 1 45797481 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_S226S,Synonymous_S226S,Silent,Synonymous_S318S,Synonymous_S329S,Synonymous_S333S,Synonymous_S346S,Synonymous_S318S,Synonymous_S319S,Synonymous_S332S,Synonymous_S343S,Synonymous_S203S,Synonymous_S318S,Synonymous_S203S ilmnseq_rs372673338 1 45797481 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_S226S,Synonymous_S226S,Silent,Synonymous_S318S,Synonymous_S329S,Synonymous_S333S,Synonymous_S346S,Synonymous_S318S,Synonymous_S319S,Synonymous_S332S,Synonymous_S343S,Synonymous_S203S,Synonymous_S318S,Synonymous_S203S Variant48382 1 45797481 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_S226S,Synonymous_S226S,Silent,Synonymous_S318S,Synonymous_S329S,Synonymous_S333S,Synonymous_S346S,Synonymous_S318S,Synonymous_S319S,Synonymous_S332S,Synonymous_S343S,Synonymous_S203S,Synonymous_S318S,Synonymous_S203S 1:45797482-GA 1 45797482 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_S226L,Missense_S226L,Silent,Missense_S318L,Missense_S329L,Missense_S333L,Missense_S346L,Missense_S318L,Missense_S319L,Missense_S332L,Missense_S343L,Missense_S203L,Missense_S318L,Missense_S203L 1:45797492 1 45797492 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L223L,Synonymous_L223L,Silent,Synonymous_L315L,Synonymous_L326L,Synonymous_L330L,Synonymous_L343L,Synonymous_L315L,Synonymous_L316L,Synonymous_L329L,Synonymous_L340L,Synonymous_L200L,Synonymous_L315L,Synonymous_L200L ilmnseq_rs587780083 1 45797505 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_Q218Q,Synonymous_Q218Q,Silent,Synonymous_Q310Q,Synonymous_Q321Q,Synonymous_Q325Q,Synonymous_Q338Q,Synonymous_Q310Q,Synonymous_Q311Q,Synonymous_Q324Q,Synonymous_Q335Q,Synonymous_Q195Q,Synonymous_Q310Q,Synonymous_Q195Q exm54997 1 45797506 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Q218R,Missense_Q218R,Silent,Missense_Q310R,Missense_Q321R,Missense_Q325R,Missense_Q338R,Missense_Q310R,Missense_Q311R,Missense_Q324R,Missense_Q335R,Missense_Q195R,Missense_Q310R,Missense_Q195R seq-rs587780082 1 45797507 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q218X,Nonsense_Q218X,Silent,Nonsense_Q310X,Nonsense_Q321X,Nonsense_Q325X,Nonsense_Q338X,Nonsense_Q310X,Nonsense_Q311X,Nonsense_Q324X,Nonsense_Q335X,Nonsense_Q195X,Nonsense_Q310X,Nonsense_Q195X 1:45797507-GA 1 45797507 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q218X,Nonsense_Q218X,Silent,Nonsense_Q310X,Nonsense_Q321X,Nonsense_Q325X,Nonsense_Q338X,Nonsense_Q310X,Nonsense_Q311X,Nonsense_Q324X,Nonsense_Q335X,Nonsense_Q195X,Nonsense_Q310X,Nonsense_Q195X ilmnseq_rs876659790 1 45797512 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_T216I,Missense_T216I,Silent,Missense_T308I,Missense_T319I,Missense_T323I,Missense_T336I,Missense_T308I,Missense_T309I,Missense_T322I,Missense_T333I,Missense_T193I,Missense_T308I,Missense_T193I ilmnseq_rs765808018 1 45797515 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_N215S,Missense_N215S,Silent,Missense_N307S,Missense_N318S,Missense_N322S,Missense_N335S,Missense_N307S,Missense_N308S,Missense_N321S,Missense_N332S,Missense_N192S,Missense_N307S,Missense_N192S ilmnseq_rs3219488 1 45797530 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs188830619 1 45797548 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs864622394 1 45797692 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs149334084 1 45797711 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_P207P,Synonymous_P207P,Silent,Synonymous_P299P,Synonymous_P310P,Synonymous_P314P,Synonymous_P327P,Synonymous_P299P,Synonymous_P300P,Synonymous_P313P,Synonymous_P324P,Synonymous_P184P,Synonymous_P299P,Synonymous_P184P ilmnseq_rs558173961 1 45797721 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_S204L,Missense_S204L,Silent,Missense_S296L,Missense_S307L,Missense_S311L,Missense_S324L,Missense_S296L,Missense_S297L,Missense_S310L,Missense_S321L,Missense_S181L,Missense_S296L,Missense_S181L 1:45797729-TC-T 1 45797729 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs765686051 1 45797731 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G201R,Missense_G201R,Silent,Missense_G293R,Missense_G304R,Missense_G308R,Missense_G321R,Missense_G293R,Missense_G294R,Missense_G307R,Missense_G318R,Missense_G178R,Missense_G293R,Missense_G178R ilmnseq_rs878854195 1 45797742 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_L197P,Missense_L197P,Silent,Missense_L289P,Missense_L300P,Missense_L304P,Missense_L317P,Missense_L289P,Missense_L290P,Missense_L303P,Missense_L314P,Missense_L174P,Missense_L289P,Missense_L174P seq-rs587781338 1 45797752 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q194X,Nonsense_Q194X,Silent,Nonsense_Q286X,Nonsense_Q297X,Nonsense_Q301X,Nonsense_Q314X,Nonsense_Q286X,Nonsense_Q287X,Nonsense_Q300X,Nonsense_Q311X,Nonsense_Q171X,Nonsense_Q286X,Nonsense_Q171X IlmnSeq_rs587781338 1 45797752 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q194X,Nonsense_Q194X,Silent,Nonsense_Q286X,Nonsense_Q297X,Nonsense_Q301X,Nonsense_Q314X,Nonsense_Q286X,Nonsense_Q287X,Nonsense_Q300X,Nonsense_Q311X,Nonsense_Q171X,Nonsense_Q286X,Nonsense_Q171X ilmnseq_rs751875215 1 45797756 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_V192V,Synonymous_V192V,Silent,Synonymous_V284V,Synonymous_V295V,Synonymous_V299V,Synonymous_V312V,Synonymous_V284V,Synonymous_V285V,Synonymous_V298V,Synonymous_V309V,Synonymous_V169V,Synonymous_V284V,Synonymous_V169V exm1815471 1 45797760 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77542170 1 45797760 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:45797828 1 45797828 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:45797836 1 45797836 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm55002 1 45797839 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R191K,Missense_R191K,Silent,Missense_R283K,Missense_R294K,Missense_R298K,Missense_R311K,Missense_R283K,Missense_R284K,Missense_R297K,Missense_R308K,Missense_R168K,Missense_R283K,Missense_R168K ilmnseq_rs587782727 1 45797845 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R189H,Missense_R189H,Silent,Missense_R281H,Missense_R292H,Missense_R296H,Missense_R309H,Missense_R281H,Missense_R282H,Missense_R295H,Missense_R306H,Missense_R166H,Missense_R281H,Missense_R166H exm55003 1 45797846 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R189C,Missense_R189C,Silent,Missense_R281C,Missense_R292C,Missense_R296C,Missense_R309C,Missense_R281C,Missense_R282C,Missense_R295C,Missense_R306C,Missense_R166C,Missense_R281C,Missense_R166C rs138089183 1 45797846 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R189C,Missense_R189C,Silent,Missense_R281C,Missense_R292C,Missense_R296C,Missense_R309C,Missense_R281C,Missense_R282C,Missense_R295C,Missense_R306C,Missense_R166C,Missense_R281C,Missense_R166C 1:45797850 1 45797850 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_R187R,Synonymous_R187R,Silent,Synonymous_R279R,Synonymous_R290R,Synonymous_R294R,Synonymous_R307R,Synonymous_R279R,Synonymous_R280R,Synonymous_R293R,Synonymous_R304R,Synonymous_R164R,Synonymous_R279R,Synonymous_R164R ilmnseq_rs140156029 1 45797851 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R187Q,Missense_R187Q,Silent,Missense_R279Q,Missense_R290Q,Missense_R294Q,Missense_R307Q,Missense_R279Q,Missense_R280Q,Missense_R293Q,Missense_R304Q,Missense_R164Q,Missense_R279Q,Missense_R164Q ilmnseq_rs759822330 1 45797852 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R187W,Missense_R187W,Silent,Missense_R279W,Missense_R290W,Missense_R294W,Missense_R307W,Missense_R279W,Missense_R280W,Missense_R293W,Missense_R304W,Missense_R164W,Missense_R279W,Missense_R164W ilmnseq_rs786204112 1 45797854 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_C186Y,Missense_C186Y,Silent,Missense_C278Y,Missense_C289Y,Missense_C293Y,Missense_C306Y,Missense_C278Y,Missense_C279Y,Missense_C292Y,Missense_C303Y,Missense_C163Y,Missense_C278Y,Missense_C163Y 1:45797860 1 45797860 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_S184N,Missense_S184N,Silent,Missense_S276N,Missense_S287N,Missense_S291N,Missense_S304N,Missense_S276N,Missense_S277N,Missense_S290N,Missense_S301N,Missense_S161N,Missense_S276N,Missense_S161N ilmnseq_rs863224700 1 45797862 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_E183D,Missense_E183D,Silent,Missense_E275D,Missense_E286D,Missense_E290D,Missense_E303D,Missense_E275D,Missense_E276D,Missense_E289D,Missense_E300D,Missense_E160D,Missense_E275D,Missense_E160D ilmnseq_rs757080586 1 45797878 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_S178N,Missense_S178N,Silent,Missense_S270N,Missense_S281N,Missense_S285N,Missense_S298N,Missense_S270N,Missense_S271N,Missense_S284N,Missense_S295N,Missense_S155N,Missense_S270N,Missense_S155N 1:45797880 1 45797880 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_C177C,Synonymous_C177C,Silent,Synonymous_C269C,Synonymous_C280C,Synonymous_C284C,Synonymous_C297C,Synonymous_C269C,Synonymous_C270C,Synonymous_C283C,Synonymous_C294C,Synonymous_C154C,Synonymous_C269C,Synonymous_C154C IlmnSeq_rs879254257 1 45797881 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_C177Y,Missense_C177Y,Silent,Missense_C269Y,Missense_C280Y,Missense_C284Y,Missense_C297Y,Missense_C269Y,Missense_C270Y,Missense_C283Y,Missense_C294Y,Missense_C154Y,Missense_C269Y,Missense_C154Y ilmnseq_rs778782508 1 45797885 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L176L,Synonymous_L176L,Silent,Synonymous_L268L,Synonymous_L279L,Synonymous_L283L,Synonymous_L296L,Synonymous_L268L,Synonymous_L269L,Synonymous_L282L,Synonymous_L293L,Synonymous_L153L,Synonymous_L268L,Synonymous_L153L Variant48385 1 45797887 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_P175L,Missense_P175L,Silent,Missense_P267L,Missense_P278L,Missense_P282L,Missense_P295L,Missense_P267L,Missense_P268L,Missense_P281L,Missense_P292L,Missense_P152L,Missense_P267L,Missense_P152L rs374950566 1 45797887 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_P175L,Missense_P175L,Silent,Missense_P267L,Missense_P278L,Missense_P282L,Missense_P295L,Missense_P267L,Missense_P268L,Missense_P281L,Missense_P292L,Missense_P152L,Missense_P267L,Missense_P152L ilmnseq_rs587780750 1 45797889 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_R174R,Synonymous_R174R,Silent,Synonymous_R266R,Synonymous_R277R,Synonymous_R281R,Synonymous_R294R,Synonymous_R266R,Synonymous_R267R,Synonymous_R280R,Synonymous_R291R,Synonymous_R151R,Synonymous_R266R,Synonymous_R151R ilmnseq_rs146044717 1 45797890 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R174H,Missense_R174H,Silent,Missense_R266H,Missense_R277H,Missense_R281H,Missense_R294H,Missense_R266H,Missense_R267H,Missense_R280H,Missense_R291H,Missense_R151H,Missense_R266H,Missense_R151H ilmnseq_rs199840380 1 45797891 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R174C,Missense_R174C,Silent,Missense_R266C,Missense_R277C,Missense_R281C,Missense_R294C,Missense_R266C,Missense_R267C,Missense_R280C,Missense_R291C,Missense_R151C,Missense_R266C,Missense_R151C ilmnseq_rs587781949 1 45797897 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_P172S,Missense_P172S,Silent,Missense_P264S,Missense_P275S,Missense_P279S,Missense_P292S,Missense_P264S,Missense_P265S,Missense_P278S,Missense_P289S,Missense_P149S,Missense_P264S,Missense_P149S ilmnseq_rs749815703 1 45797904 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_V169V,Synonymous_V169V,Silent,Synonymous_V261V,Synonymous_V272V,Synonymous_V276V,Synonymous_V289V,Synonymous_V261V,Synonymous_V262V,Synonymous_V275V,Synonymous_V286V,Synonymous_V146V,Synonymous_V261V,Synonymous_V146V Variant15899 1 45797912 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON seq-rs730881833 1 45797914 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G166E,Missense_G166E,Silent,Missense_G258E,Missense_G269E,Missense_G273E,Missense_G286E,Missense_G258E,Missense_G259E,Missense_G272E,Missense_G283E,Missense_G143E,Missense_G258E,Missense_G143E rs876658503 1 45797916 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L165L,Synonymous_L165L,Silent,Synonymous_L257L,Synonymous_L268L,Synonymous_L272L,Synonymous_L285L,Synonymous_L257L,Synonymous_L258L,Synonymous_L271L,Synonymous_L282L,Synonymous_L142L,Synonymous_L257L,Synonymous_L142L IlmnSeq_rs876659676 1 45797924 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_M163V,Missense_M163V,Silent,Missense_M255V,Missense_M266V,Missense_M270V,Missense_M283V,Missense_M255V,Missense_M256V,Missense_M269V,Missense_M280V,Missense_M140V,Missense_M255V,Missense_M140V ilmnseq_rs587782764 1 45797926 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A162V,Missense_A162V,Silent,Missense_A254V,Missense_A265V,Missense_A269V,Missense_A282V,Missense_A254V,Missense_A255V,Missense_A268V,Missense_A279V,Missense_A139V,Missense_A254V,Missense_A139V ilmnseq_rs1060501329 1 45797929 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A161V,Missense_A161V,Silent,Missense_A253V,Missense_A264V,Missense_A268V,Missense_A281V,Missense_A253V,Missense_A254V,Missense_A267V,Missense_A278V,Missense_A138V,Missense_A253V,Missense_A138V Variant48388 1 45797950 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R154Q,Missense_R154Q,Silent,Missense_R246Q,Missense_R257Q,Missense_R261Q,Missense_R274Q,Missense_R246Q,Missense_R247Q,Missense_R260Q,Missense_R271Q,Missense_R131Q,Missense_R246Q,Missense_R131Q rs149866955 1 45797950 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R154Q,Missense_R154Q,Silent,Missense_R246Q,Missense_R257Q,Missense_R261Q,Missense_R274Q,Missense_R246Q,Missense_R247Q,Missense_R260Q,Missense_R271Q,Missense_R131Q,Missense_R246Q,Missense_R131Q Variant48389 1 45797951 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R154W,Missense_R154W,Silent,Missense_R246W,Missense_R257W,Missense_R261W,Missense_R274W,Missense_R246W,Missense_R247W,Missense_R260W,Missense_R271W,Missense_R131W,Missense_R246W,Missense_R131W ilmnseq_rs786201772 1 45797957 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_P152S,Missense_P152S,Silent,Missense_P244S,Missense_P255S,Missense_P259S,Missense_P272S,Missense_P244S,Missense_P245S,Missense_P258S,Missense_P269S,Missense_P129S,Missense_P244S,Missense_P129S ilmnseq_rs730881838 1 45797958 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_D151D,Synonymous_D151D,Silent,Synonymous_D243D,Synonymous_D254D,Synonymous_D258D,Synonymous_D271D,Synonymous_D243D,Synonymous_D244D,Synonymous_D257D,Synonymous_D268D,Synonymous_D128D,Synonymous_D243D,Synonymous_D128D 1:45797962_mnv 1 45797962 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V150G,Missense_V150G,Silent,Missense_V242G,Missense_V253G,Missense_V257G,Missense_V270G,Missense_V242G,Missense_V243G,Missense_V256G,Missense_V267G,Missense_V127G,Missense_V242G,Missense_V127G 1:45332290_MNV 1 45797962 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V150G,Missense_V150G,Silent,Missense_V242G,Missense_V253G,Missense_V257G,Missense_V270G,Missense_V242G,Missense_V243G,Missense_V256G,Missense_V267G,Missense_V127G,Missense_V242G,Missense_V127G seq-rs786203115 1 45797972 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q147X,Nonsense_Q147X,Silent,Nonsense_Q239X,Nonsense_Q250X,Nonsense_Q254X,Nonsense_Q267X,Nonsense_Q239X,Nonsense_Q240X,Nonsense_Q253X,Nonsense_Q264X,Nonsense_Q124X,Nonsense_Q239X,Nonsense_Q124X 1:45332310 1 45797982 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_W143X,Nonsense_W143X,Silent,Nonsense_W235X,Nonsense_W246X,Nonsense_W250X,Nonsense_W263X,Nonsense_W235X,Nonsense_W236X,Nonsense_W249X,Nonsense_W260X,Nonsense_W120X,Nonsense_W235X,Nonsense_W120X ilmnseq_rs143091801 1 45798054 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs761840203 1 45798059 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs577792676 1 45798104 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_I129I,Synonymous_I129I,Silent,Synonymous_I221I,Synonymous_I232I,Synonymous_I236I,Synonymous_I249I,Synonymous_I221I,Synonymous_I222I,Synonymous_I235I,Synonymous_I246I,Synonymous_I106I,Synonymous_I221I,Synonymous_I106I ilmnseq_rs777335285 1 45798111 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R127Q,Missense_R127Q,Silent,Missense_R219Q,Missense_R230Q,Missense_R234Q,Missense_R247Q,Missense_R219Q,Missense_R220Q,Missense_R233Q,Missense_R244Q,Missense_R104Q,Missense_R219Q,Missense_R104Q seq-rs587782885 1 45798112 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_R127X,Nonsense_R127X,Silent,Nonsense_R219X,Nonsense_R230X,Nonsense_R234X,Nonsense_R247X,Nonsense_R219X,Nonsense_R220X,Nonsense_R233X,Nonsense_R244X,Nonsense_R104X,Nonsense_R219X,Nonsense_R104X seq-rs587780749 1 45798115 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V126F,Missense_V126F,Silent,Missense_V218F,Missense_V229F,Missense_V233F,Missense_V246F,Missense_V218F,Missense_V219F,Missense_V232F,Missense_V243F,Missense_V103F,Missense_V218F,Missense_V103F exm55014 1 45798117 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R125H,Missense_R125H,Silent,Missense_R217H,Missense_R228H,Missense_R232H,Missense_R245H,Missense_R217H,Missense_R218H,Missense_R231H,Missense_R242H,Missense_R102H,Missense_R217H,Missense_R102H rs140342925 1 45798117 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R125H,Missense_R125H,Silent,Missense_R217H,Missense_R228H,Missense_R232H,Missense_R245H,Missense_R217H,Missense_R218H,Missense_R231H,Missense_R242H,Missense_R102H,Missense_R217H,Missense_R102H rs200495564 1 45798118 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R125C,Missense_R125C,Silent,Missense_R217C,Missense_R228C,Missense_R232C,Missense_R245C,Missense_R217C,Missense_R218C,Missense_R231C,Missense_R242C,Missense_R102C,Missense_R217C,Missense_R102C Variant48393 1 45798118 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R125C,Missense_R125C,Silent,Missense_R217C,Missense_R228C,Missense_R232C,Missense_R245C,Missense_R217C,Missense_R218C,Missense_R231C,Missense_R242C,Missense_R102C,Missense_R217C,Missense_R102C ilmnseq_rs375346290 1 45798120 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_C124Y,Missense_C124Y,Silent,Missense_C216Y,Missense_C227Y,Missense_C231Y,Missense_C244Y,Missense_C216Y,Missense_C217Y,Missense_C230Y,Missense_C241Y,Missense_C101Y,Missense_C216Y,Missense_C101Y rs1060501346 1 45798129 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R121Q,Missense_R121Q,Silent,Missense_R213Q,Missense_R224Q,Missense_R228Q,Missense_R241Q,Missense_R213Q,Missense_R214Q,Missense_R227Q,Missense_R238Q,Missense_R98Q,Missense_R213Q,Missense_R98Q ilmnseq_rs1060501346 1 45798129 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R121Q,Missense_R121Q,Silent,Missense_R213Q,Missense_R224Q,Missense_R228Q,Missense_R241Q,Missense_R213Q,Missense_R214Q,Missense_R227Q,Missense_R238Q,Missense_R98Q,Missense_R213Q,Missense_R98Q rs34126013 1 45798130 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R121W,Missense_R121W,Silent,Missense_R213W,Missense_R224W,Missense_R228W,Missense_R241W,Missense_R213W,Missense_R214W,Missense_R227W,Missense_R238W,Missense_R98W,Missense_R213W,Missense_R98W rs1064793197_mnv 1 45798130 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R121W,Missense_R121W,Silent,Missense_R213W,Missense_R224W,Missense_R228W,Missense_R241W,Missense_R213W,Missense_R214W,Missense_R227W,Missense_R238W,Missense_R98W,Missense_R213W,Missense_R98W 1:45798135 1 45798130 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R121W,Missense_R121W,Silent,Missense_R213W,Missense_R224W,Missense_R228W,Missense_R241W,Missense_R213W,Missense_R214W,Missense_R227W,Missense_R238W,Missense_R98W,Missense_R213W,Missense_R98W ilmnseq_rs1064793197_mnv 1 45798130 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R121W,Missense_R121W,Silent,Missense_R213W,Missense_R224W,Missense_R228W,Missense_R241W,Missense_R213W,Missense_R214W,Missense_R227W,Missense_R238W,Missense_R98W,Missense_R213W,Missense_R98W Variant48394 1 45798130 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R121W,Missense_R121W,Silent,Missense_R213W,Missense_R224W,Missense_R228W,Missense_R241W,Missense_R213W,Missense_R214W,Missense_R227W,Missense_R238W,Missense_R98W,Missense_R213W,Missense_R98W ilmnseq_rs369120013 1 45798132 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A120V,Missense_A120V,Silent,Missense_A212V,Missense_A223V,Missense_A227V,Missense_A240V,Missense_A212V,Missense_A213V,Missense_A226V,Missense_A237V,Missense_A97V,Missense_A212V,Missense_A97V ilmnseq_rs774237159 1 45798133 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A120T,Missense_A120T,Silent,Missense_A212T,Missense_A223T,Missense_A227T,Missense_A240T,Missense_A212T,Missense_A213T,Missense_A226T,Missense_A237T,Missense_A97T,Missense_A212T,Missense_A97T ilmnseq_rs759295912 1 45798136 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V119I,Missense_V119I,Silent,Missense_V211I,Missense_V222I,Missense_V226I,Missense_V239I,Missense_V211I,Missense_V212I,Missense_V225I,Missense_V236I,Missense_V96I,Missense_V211I,Missense_V96I Variant48395 1 45798137 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_N118N,Synonymous_N118N,Silent,Synonymous_N210N,Synonymous_N221N,Synonymous_N225N,Synonymous_N238N,Synonymous_N210N,Synonymous_N211N,Synonymous_N224N,Synonymous_N235N,Synonymous_N95N,Synonymous_N210N,Synonymous_N95N ilmnseq_rs1057517765 1 45798138 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_N118S,Missense_N118S,Silent,Missense_N210S,Missense_N221S,Missense_N225S,Missense_N238S,Missense_N210S,Missense_N211S,Missense_N224S,Missense_N235S,Missense_N95S,Missense_N210S,Missense_N95S Variant48396 1 45798151 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V114M,Missense_V114M,Silent,Missense_V206M,Missense_V217M,Missense_V221M,Missense_V234M,Missense_V206M,Missense_V207M,Missense_V220M,Missense_V231M,Missense_V91M,Missense_V206M,Missense_V91M rs200165598 1 45798151 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V114M,Missense_V114M,Silent,Missense_V206M,Missense_V217M,Missense_V221M,Missense_V234M,Missense_V206M,Missense_V207M,Missense_V220M,Missense_V231M,Missense_V91M,Missense_V206M,Missense_V91M ilmnseq_rs780747266 1 45798155 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_T112T,Synonymous_T112T,Silent,Synonymous_T204T,Synonymous_T215T,Synonymous_T219T,Synonymous_T232T,Synonymous_T204T,Synonymous_T205T,Synonymous_T218T,Synonymous_T229T,Synonymous_T89T,Synonymous_T204T,Synonymous_T89T 1:45332489 1 45798161 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs765157527 1 45798177 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH ilmnseq_rs765157527 1 45798177 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH IlmnSeq_rs878854193 1 45798245 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs878854193 1 45798245 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs199989617 1 45798246 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_Q110Q,Synonymous_Q110Q,Silent,Synonymous_Q202Q,Synonymous_Q213Q,Synonymous_Q217Q,Synonymous_Q230Q,Synonymous_Q202Q,Synonymous_Q203Q,Synonymous_Q216Q,Synonymous_Q227Q,Synonymous_Q87Q,Synonymous_Q202Q,Synonymous_Q87Q 1:45798248 1 45798248 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q110X,Nonsense_Q110X,Silent,Nonsense_Q202X,Nonsense_Q213X,Nonsense_Q217X,Nonsense_Q230X,Nonsense_Q202X,Nonsense_Q203X,Nonsense_Q216X,Nonsense_Q227X,Nonsense_Q87X,Nonsense_Q202X,Nonsense_Q87X ilmnseq_rs752114814 1 45798250 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G109D,Missense_G109D,Silent,Missense_G201D,Missense_G212D,Missense_G216D,Missense_G229D,Missense_G201D,Missense_G202D,Missense_G215D,Missense_G226D,Missense_G86D,Missense_G201D,Missense_G86D ilmnseq_rs11545695 1 45798256 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A107V,Missense_A107V,Silent,Missense_A199V,Missense_A210V,Missense_A214V,Missense_A227V,Missense_A199V,Missense_A200V,Missense_A213V,Missense_A224V,Missense_A84V,Missense_A199V,Missense_A84V ilmnseq_rs369854269 1 45798257 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A107T,Missense_A107T,Silent,Missense_A199T,Missense_A210T,Missense_A214T,Missense_A227T,Missense_A199T,Missense_A200T,Missense_A213T,Missense_A224T,Missense_A84T,Missense_A199T,Missense_A84T ilmnseq_rs371875647 1 45798258 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_I106I,Synonymous_I106I,Silent,Synonymous_I198I,Synonymous_I209I,Synonymous_I213I,Synonymous_I226I,Synonymous_I198I,Synonymous_I199I,Synonymous_I212I,Synonymous_I223I,Synonymous_I83I,Synonymous_I198I,Synonymous_I83I ilmnseq_rs200965879 1 45798260 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_I106V,Missense_I106V,Silent,Missense_I198V,Missense_I209V,Missense_I213V,Missense_I226V,Missense_I198V,Missense_I199V,Missense_I212V,Missense_I223V,Missense_I83V,Missense_I198V,Missense_I83V ilmnseq_rs200872702 1 45798269 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_I103V,Missense_I103V,Silent,Missense_I195V,Missense_I206V,Missense_I210V,Missense_I223V,Missense_I195V,Missense_I196V,Missense_I209V,Missense_I220V,Missense_I80V,Missense_I195V,Missense_I80V ilmnseq_rs1114167683 1 45798272 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A102T,Missense_A102T,Silent,Missense_A194T,Missense_A205T,Missense_A209T,Missense_A222T,Missense_A194T,Missense_A195T,Missense_A208T,Missense_A219T,Missense_A79T,Missense_A194T,Missense_A79T ilmnseq_rs147754007 1 45798286 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R97H,Missense_R97H,Silent,Missense_R189H,Missense_R200H,Missense_R204H,Missense_R217H,Missense_R189H,Missense_R190H,Missense_R203H,Missense_R214H,Missense_R74H,Missense_R189H,Missense_R74H ilmnseq_rs537292657 1 45798287 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R97C,Missense_R97C,Silent,Missense_R189C,Missense_R200C,Missense_R204C,Missense_R217C,Missense_R189C,Missense_R190C,Missense_R203C,Missense_R214C,Missense_R74C,Missense_R189C,Missense_R74C Variant48398 1 45798289 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G96E,Missense_G96E,Silent,Missense_G188E,Missense_G199E,Missense_G203E,Missense_G216E,Missense_G188E,Missense_G189E,Missense_G202E,Missense_G213E,Missense_G73E,Missense_G188E,Missense_G73E Variant48399 1 45798293 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V95M,Missense_V95M,Silent,Missense_V187M,Missense_V198M,Missense_V202M,Missense_V215M,Missense_V187M,Missense_V188M,Missense_V201M,Missense_V212M,Missense_V72M,Missense_V187M,Missense_V72M rs1057524506 1 45798294 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_G94G,Synonymous_G94G,Silent,Synonymous_G186G,Synonymous_G197G,Synonymous_G201G,Synonymous_G214G,Synonymous_G186G,Synonymous_G187G,Synonymous_G200G,Synonymous_G211G,Synonymous_G71G,Synonymous_G186G,Synonymous_G71G 1:45798303 1 45798303 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L91L,Synonymous_L91L,Silent,Synonymous_L183L,Synonymous_L194L,Synonymous_L198L,Synonymous_L211L,Synonymous_L183L,Synonymous_L184L,Synonymous_L197L,Synonymous_L208L,Synonymous_L68L,Synonymous_L183L,Synonymous_L68L rs376561094 1 45798308 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q90X,Nonsense_Q90X,Silent,Nonsense_Q182X,Nonsense_Q193X,Nonsense_Q197X,Nonsense_Q210X,Nonsense_Q182X,Nonsense_Q183X,Nonsense_Q196X,Nonsense_Q207X,Nonsense_Q67X,Nonsense_Q182X,Nonsense_Q67X Variant48400 1 45798308 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q90X,Nonsense_Q90X,Silent,Nonsense_Q182X,Nonsense_Q193X,Nonsense_Q197X,Nonsense_Q210X,Nonsense_Q182X,Nonsense_Q183X,Nonsense_Q196X,Nonsense_Q207X,Nonsense_Q67X,Nonsense_Q182X,Nonsense_Q67X ilmnseq_rs730881837 1 45798309 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_Q89Q,Synonymous_Q89Q,Silent,Synonymous_Q181Q,Synonymous_Q192Q,Synonymous_Q196Q,Synonymous_Q209Q,Synonymous_Q181Q,Synonymous_Q182Q,Synonymous_Q195Q,Synonymous_Q206Q,Synonymous_Q66Q,Synonymous_Q181Q,Synonymous_Q66Q 1:45798327 1 45798327 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_R83R,Synonymous_R83R,Silent,Synonymous_R175R,Synonymous_R186R,Synonymous_R190R,Synonymous_R203R,Synonymous_R175R,Synonymous_R176R,Synonymous_R189R,Synonymous_R200R,Synonymous_R60R,Synonymous_R175R,Synonymous_R60R 1:45798333 1 45798333 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_M81I,Missense_M81I,Silent,Missense_M173I,Missense_M184I,Missense_M188I,Missense_M201I,Missense_M173I,Missense_M174I,Missense_M187I,Missense_M198I,Missense_M58I,Missense_M173I,Missense_M58I ilmnseq_rs754061478 1 45798345 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L77L,Synonymous_L77L,Silent,Synonymous_L169L,Synonymous_L180L,Synonymous_L184L,Synonymous_L197L,Synonymous_L169L,Synonymous_L170L,Synonymous_L183L,Synonymous_L194L,Synonymous_L54L,Synonymous_L169L,Synonymous_L54L ilmnseq_rs745921592 1 45798350 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_E76X,Nonsense_E76X,Silent,Nonsense_E168X,Nonsense_E179X,Nonsense_E183X,Nonsense_E196X,Nonsense_E168X,Nonsense_E169X,Nonsense_E182X,Nonsense_E193X,Nonsense_E53X,Nonsense_E168X,Nonsense_E53X Variant48401 1 45798350 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_E76X,Nonsense_E76X,Silent,Nonsense_E168X,Nonsense_E179X,Nonsense_E183X,Nonsense_E196X,Nonsense_E168X,Nonsense_E169X,Nonsense_E182X,Nonsense_E193X,Nonsense_E53X,Nonsense_E168X,Nonsense_E53X 1:45332689 1 45798361 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:45798361 1 45798361 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs776504435 1 45798415 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs765792042 1 45798432 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs369677603 1 45798439 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R71Q,Missense_R71Q,Silent,Missense_R163Q,Missense_R174Q,Missense_R178Q,Missense_R191Q,Missense_R163Q,Missense_R164Q,Missense_R177Q,Missense_R188Q,Missense_R48Q,Missense_R163Q,Missense_R48Q ilmnseq_rs761101420 1 45798440 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R71W,Missense_R71W,Silent,Missense_R163W,Missense_R174W,Missense_R178W,Missense_R191W,Missense_R163W,Missense_R164W,Missense_R177W,Missense_R188W,Missense_R48W,Missense_R163W,Missense_R48W Variant48402 1 45798445 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G69E,Missense_G69E,Silent,Missense_G161E,Missense_G172E,Missense_G176E,Missense_G189E,Missense_G161E,Missense_G162E,Missense_G175E,Missense_G186E,Missense_G46E,Missense_G161E,Missense_G46E ilmnseq_rs757503642 1 45798451 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Q67R,Missense_Q67R,Silent,Missense_Q159R,Missense_Q170R,Missense_Q174R,Missense_Q187R,Missense_Q159R,Missense_Q160R,Missense_Q173R,Missense_Q184R,Missense_Q44R,Missense_Q159R,Missense_Q44R 1:45332780 1 45798452 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q67X,Nonsense_Q67X,Silent,Nonsense_Q159X,Nonsense_Q170X,Nonsense_Q174X,Nonsense_Q187X,Nonsense_Q159X,Nonsense_Q160X,Nonsense_Q173X,Nonsense_Q184X,Nonsense_Q44X,Nonsense_Q159X,Nonsense_Q44X rs1060501337_mnv 1 45798454 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_L66R,Missense_L66R,Silent,Missense_L158R,Missense_L169R,Missense_L173R,Missense_L186R,Missense_L158R,Missense_L159R,Missense_L172R,Missense_L183R,Missense_L43R,Missense_L158R,Missense_L43R ilmnseq_rs533899702 1 45798457 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R65Q,Missense_R65Q,Silent,Missense_R157Q,Missense_R168Q,Missense_R172Q,Missense_R185Q,Missense_R157Q,Missense_R158Q,Missense_R171Q,Missense_R182Q,Missense_R42Q,Missense_R157Q,Missense_R42Q Variant48404 1 45798458 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R65W,Missense_R65W,Silent,Missense_R157W,Missense_R168W,Missense_R172W,Missense_R185W,Missense_R157W,Missense_R158W,Missense_R171W,Missense_R182W,Missense_R42W,Missense_R157W,Missense_R42W ilmnseq_rs750592289 1 45798458 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R65W,Missense_R65W,Silent,Missense_R157W,Missense_R168W,Missense_R172W,Missense_R185W,Missense_R157W,Missense_R158W,Missense_R171W,Missense_R182W,Missense_R42W,Missense_R157W,Missense_R42W Variant48405 1 45798460 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R64Q,Missense_R64Q,Silent,Missense_R156Q,Missense_R167Q,Missense_R171Q,Missense_R184Q,Missense_R156Q,Missense_R157Q,Missense_R170Q,Missense_R181Q,Missense_R41Q,Missense_R156Q,Missense_R41Q ilmnseq_rs779997419 1 45798461 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R64W,Missense_R64W,Silent,Missense_R156W,Missense_R167W,Missense_R171W,Missense_R184W,Missense_R156W,Missense_R157W,Missense_R170W,Missense_R181W,Missense_R41W,Missense_R156W,Missense_R41W IlmnSeq_rs587781864 1 45798463 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_G63D,Missense_G63D,Silent,Missense_G155D,Missense_G166D,Missense_G170D,Missense_G183D,Missense_G155D,Missense_G156D,Missense_G169D,Missense_G180D,Missense_G40D,Missense_G155D,Missense_G40D rs143353451 1 45798466 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R62L,Missense_R62L,Silent,Missense_R154L,Missense_R165L,Missense_R169L,Missense_R182L,Missense_R154L,Missense_R155L,Missense_R168L,Missense_R179L,Missense_R39L,Missense_R154L,Missense_R39L Variant48408 1 45798467 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R62C,Missense_R62C,Silent,Missense_R154C,Missense_R165C,Missense_R169C,Missense_R182C,Missense_R154C,Missense_R155C,Missense_R168C,Missense_R179C,Missense_R39C,Missense_R154C,Missense_R39C seq-rs747993448 1 45798467 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R62C,Missense_R62C,Silent,Missense_R154C,Missense_R165C,Missense_R169C,Missense_R182C,Missense_R154C,Missense_R155C,Missense_R168C,Missense_R179C,Missense_R39C,Missense_R154C,Missense_R39C 1:45798468 1 45798468 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_S61S,Synonymous_S61S,Silent,Synonymous_S153S,Synonymous_S164S,Synonymous_S168S,Synonymous_S181S,Synonymous_S153S,Synonymous_S154S,Synonymous_S167S,Synonymous_S178S,Synonymous_S38S,Synonymous_S153S,Synonymous_S38S ilmnseq_rs876658906 1 45798469 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_S61F,Missense_S61F,Silent,Missense_S153F,Missense_S164F,Missense_S168F,Missense_S181F,Missense_S153F,Missense_S154F,Missense_S167F,Missense_S178F,Missense_S38F,Missense_S153F,Missense_S38F rs34612342 1 45798475 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Y59C,Missense_Y59C,Silent,Missense_Y151C,Missense_Y162C,Missense_Y166C,Missense_Y179C,Missense_Y151C,Missense_Y152C,Missense_Y165C,Missense_Y176C,Missense_Y36C,Missense_Y151C,Missense_Y36C exm55031 1 45798475 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Y59C,Missense_Y59C,Silent,Missense_Y151C,Missense_Y162C,Missense_Y166C,Missense_Y179C,Missense_Y151C,Missense_Y152C,Missense_Y165C,Missense_Y176C,Missense_Y36C,Missense_Y151C,Missense_Y36C ilmnseq_rs1057517457 1 45798476 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON rs1057517457 1 45798476 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs786201352 1 45798486 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_A55A,Synonymous_A55A,Silent,Synonymous_A147A,Synonymous_A158A,Synonymous_A162A,Synonymous_A175A,Synonymous_A147A,Synonymous_A148A,Synonymous_A161A,Synonymous_A172A,Synonymous_A32A,Synonymous_A147A,Synonymous_A32A ilmnseq_rs773674701 1 45798500 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_N51D,Missense_N51D,Silent,Missense_N143D,Missense_N154D,Missense_N158D,Missense_N171D,Missense_N143D,Missense_N144D,Missense_N157D,Missense_N168D,Missense_N28D,Missense_N143D,Missense_N28D rs786203161 1 45798508 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent IlmnSeq_rs786203161 1 45798508 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs201678305 1 45798510 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs878854191 1 45798511 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs890418965 1 45798518 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3219487 1 45798555 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs781222233 1 45798559 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH ilmnseq_rs1052489573 1 45798583 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs587782730 1 45798588 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent IlmnSeq_rs587782730 1 45798588 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent seq-rs587782730.1 1 45798588 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs876658641 1 45798590 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_E48E,Synonymous_E48E,Silent,Synonymous_E140E,Synonymous_E151E,Synonymous_E155E,Synonymous_E168E,Synonymous_E140E,Synonymous_E141E,Synonymous_E154E,Synonymous_E165E,Synonymous_E25E,Synonymous_E140E,Synonymous_E25E ilmnseq_rs587780087 1 45798597 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_S46F,Missense_S46F,Silent,Missense_S138F,Missense_S149F,Missense_S153F,Missense_S166F,Missense_S138F,Missense_S139F,Missense_S152F,Missense_S163F,Missense_S23F,Missense_S138F,Missense_S23F rs201103359 1 45798601 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A45T,Missense_A45T,Silent,Missense_A137T,Missense_A148T,Missense_A152T,Missense_A165T,Missense_A137T,Missense_A138T,Missense_A151T,Missense_A162T,Missense_A22T,Missense_A137T,Missense_A22T Variant48409 1 45798624 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_P37L,Missense_P37L,Silent,Missense_P129L,Missense_P140L,Missense_P144L,Missense_P157L,Missense_P129L,Missense_P130L,Missense_P143L,Missense_P154L,Missense_P14L,Missense_P129L,Missense_P14L variant.3086 1 45798627 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_W36X,Nonsense_W36X,Silent,Nonsense_W128X,Nonsense_W139X,Nonsense_W143X,Nonsense_W156X,Nonsense_W128X,Nonsense_W129X,Nonsense_W142X,Nonsense_W153X,Nonsense_W13X,Nonsense_W128X,Nonsense_W13X IlmnSeq_rs762307622 1 45798627 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_W36X,Nonsense_W36X,Silent,Nonsense_W128X,Nonsense_W139X,Nonsense_W143X,Nonsense_W156X,Nonsense_W128X,Nonsense_W129X,Nonsense_W142X,Nonsense_W153X,Nonsense_W13X,Nonsense_W128X,Nonsense_W13X IlmnSeq_rs876660787 1 45798631 [A/T] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_K35X,Nonsense_K35X,Silent,Nonsense_K127X,Nonsense_K138X,Nonsense_K142X,Nonsense_K155X,Nonsense_K127X,Nonsense_K128X,Nonsense_K141X,Nonsense_K152X,Nonsense_K12X,Nonsense_K127X,Nonsense_K12X ilmnseq_rs1057520660 1 45798632 [G/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs770203030 1 45798634 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs773394286 1 45798645 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs373939052 1 45798766 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:45333095 1 45798767 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:45798767 1 45798767 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs876660190 1 45798772 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs876660190 1 45798772 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs771641237 1 45798791 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_N27S,Missense_N27S,Silent,Missense_N119S,Missense_N130S,Missense_N134S,Missense_N147S,Missense_N119S,Missense_N120S,Missense_N133S,Missense_N144S,Silent,Missense_N119S,Silent IlmnSeq_rs876659625 1 45798810 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_Q21X,Nonsense_Q21X,Silent,Nonsense_Q113X,Nonsense_Q124X,Nonsense_Q128X,Nonsense_Q141X,Nonsense_Q113X,Nonsense_Q114X,Nonsense_Q127X,Nonsense_Q138X,Silent,Nonsense_Q113X,Silent ilmnseq_rs368963039 1 45798822 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L17L,Synonymous_L17L,Silent,Synonymous_L109L,Synonymous_L120L,Synonymous_L124L,Synonymous_L137L,Synonymous_L109L,Synonymous_L110L,Synonymous_L123L,Synonymous_L134L,Silent,Synonymous_L109L,Silent rs864622450_ilmndup1 1 45798830 [T/A] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_E14V,Missense_E14V,Silent,Missense_E106V,Missense_E117V,Missense_E121V,Missense_E134V,Missense_E106V,Missense_E107V,Missense_E120V,Missense_E131V,Silent,Missense_E106V,Silent rs864622450 1 45798830 [T/A] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_E14V,Missense_E14V,Silent,Missense_E106V,Missense_E117V,Missense_E121V,Missense_E134V,Missense_E106V,Missense_E107V,Missense_E120V,Missense_E131V,Silent,Missense_E106V,Silent ilmnseq_rs763273196 1 45798837 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_V12I,Missense_V12I,Silent,Missense_V104I,Missense_V115I,Missense_V119I,Missense_V132I,Missense_V104I,Missense_V105I,Missense_V118I,Missense_V129I,Silent,Missense_V104I,Silent 1:45333165 1 45798837 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON seq-rs587781295 1 45798838 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_W11X,Nonsense_W11X,Silent,Nonsense_W103X,Nonsense_W114X,Nonsense_W118X,Nonsense_W131X,Nonsense_W103X,Nonsense_W104X,Nonsense_W117X,Nonsense_W128X,Silent,Nonsense_W103X,Silent IlmnSeq_rs587781295 1 45798838 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Nonsense_W11X,Nonsense_W11X,Silent,Nonsense_W103X,Nonsense_W114X,Nonsense_W118X,Nonsense_W131X,Nonsense_W103X,Nonsense_W104X,Nonsense_W117X,Nonsense_W128X,Silent,Nonsense_W103X,Silent seq-rs730881832 1 45798840 [T/A] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_W11R,Missense_W11R,Silent,Missense_W103R,Missense_W114R,Missense_W118R,Missense_W131R,Missense_W103R,Missense_W104R,Missense_W117R,Missense_W128R,Silent,Missense_W103R,Silent rs372267274 1 45798843 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs372267274_ilmndup1 1 45798843 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent seq-rs863224452 1 45798844 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent IlmnSeq_rs863224452 1 45798844 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs767717597_ilmndup1 1 45798846 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs767717597 1 45798846 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs376600220 1 45798848 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs863224698 1 45798849 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:45798960 1 45798960 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A9T,Missense_A9T,Silent,Missense_A101T,Missense_A112T,Missense_A116T,Missense_A129T,Missense_A101T,Missense_A102T,Missense_A115T,Missense_A126T,Missense_M10I,Missense_A101T,Missense_M10I ilmnseq_rs876660615 1 45798962 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_Y8C,Missense_Y8C,Silent,Missense_Y100C,Missense_Y111C,Missense_Y115C,Missense_Y128C,Missense_Y100C,Missense_Y101C,Missense_Y114C,Missense_Y125C,Missense_M10V,Missense_Y100C,Missense_M10V ilmnseq_rs746112825 1 45798966 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_A7T,Missense_A7T,Silent,Missense_A99T,Missense_A110T,Missense_A114T,Missense_A127T,Missense_A99T,Missense_A100T,Missense_A113T,Missense_A124T,Synonymous_G8G,Missense_A99T,Synonymous_G8G ilmnseq_rs587781444 1 45798968 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R6Q,Missense_R6Q,Silent,Missense_R98Q,Missense_R109Q,Missense_R113Q,Missense_R126Q,Missense_R98Q,Missense_R99Q,Missense_R112Q,Missense_R123Q,Missense_G8R,Missense_R98Q,Missense_G8R ilmnseq_rs587782041 1 45798969 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Missense_R6W,Missense_R6W,Silent,Missense_R98W,Missense_R109W,Missense_R113W,Missense_R126W,Missense_R98W,Missense_R99W,Missense_R112W,Missense_R123W,Synonymous_G7G,Missense_R98W,Synonymous_G7G ilmnseq_rs730881836 1 45798973 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_D4D,Synonymous_D4D,Silent,Synonymous_D96D,Synonymous_D107D,Synonymous_D111D,Synonymous_D124D,Synonymous_D96D,Synonymous_D97D,Synonymous_D110D,Synonymous_D121D,Missense_T6I,Synonymous_D96D,Missense_T6I ilmnseq_rs764221826 1 45798978 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_L3L,Synonymous_L3L,Silent,Synonymous_L95L,Synonymous_L106L,Synonymous_L110L,Synonymous_L123L,Synonymous_L95L,Synonymous_L96L,Synonymous_L109L,Synonymous_L120L,Synonymous_T4T,Synonymous_L95L,Synonymous_T4T ilmnseq_rs876660505 1 45798979 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Synonymous_D2D,Synonymous_D2D,Silent,Synonymous_D94D,Synonymous_D105D,Synonymous_D109D,Synonymous_D122D,Synonymous_D94D,Synonymous_D95D,Synonymous_D108D,Synonymous_D119D,Missense_T4I,Synonymous_D94D,Missense_T4I ilmnseq_rs786203213 1 45798987 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON seq-rs786203213 1 45798987 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON 1:45798993 1 45798993 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Nonsense_E90X,Nonsense_E101X,Nonsense_E105X,Nonsense_E118X,Nonsense_E90X,Nonsense_E91X,Nonsense_E104X,Nonsense_E115X,Silent,Nonsense_E90X,Silent 1:45333321 1 45798993 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Nonsense_E90X,Nonsense_E101X,Nonsense_E105X,Nonsense_E118X,Nonsense_E90X,Nonsense_E91X,Nonsense_E104X,Nonsense_E115X,Silent,Nonsense_E90X,Silent ilmnseq_rs1003387951 1 45799001 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1034878313 1 45799003 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs139977567 1 45799074 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:45333412 1 45799084 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs587782683 1 45799086 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_R88Q,Missense_R99Q,Missense_R103Q,Missense_R116Q,Missense_R88Q,Missense_R89Q,Missense_R102Q,Missense_R113Q,Silent,Missense_R88Q,Silent rs373766973 1 45799087 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_R88W,Missense_R99W,Missense_R103W,Missense_R116W,Missense_R88W,Missense_R89W,Missense_R102W,Missense_R113W,Silent,Missense_R88W,Silent ilmnseq_rs1057520980 1 45799097 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Synonymous_P84P,Synonymous_P95P,Synonymous_P99P,Synonymous_P112P,Synonymous_P84P,Synonymous_P85P,Synonymous_P98P,Synonymous_P109P,Silent,Synonymous_P84P,Silent ilmnseq_rs878854189 1 45799099 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON rs878854189 1 45799099 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON 1:45333429 1 45799101 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_L83P,Missense_L94P,Missense_L98P,Missense_L111P,Missense_L83P,Missense_L84P,Missense_L97P,Missense_L108P,Silent,Missense_L83P,Silent Variant48411 1 45799108 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_R81W,Missense_R92W,Missense_R96W,Missense_R109W,Missense_R81W,Missense_R82W,Missense_R95W,Missense_R106W,Silent,Missense_R81W,Silent seq-rs765123255 1 45799108 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_R81W,Missense_R92W,Missense_R96W,Missense_R109W,Missense_R81W,Missense_R82W,Missense_R95W,Missense_R106W,Silent,Missense_R81W,Silent ilmnseq_rs876658237 1 45799111 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_K80E,Missense_K91E,Missense_K95E,Missense_K108E,Missense_K80E,Missense_K81E,Missense_K94E,Missense_K105E,Silent,Missense_K80E,Silent ilmnseq_rs1060501339 1 45799113 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_E79G,Missense_E90G,Missense_E94G,Missense_E107G,Missense_E79G,Missense_E80G,Missense_E93G,Missense_E104G,Silent,Missense_E79G,Silent seq-rs748170941 1 45799124 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Nonsense_W75X,Nonsense_W86X,Nonsense_W90X,Nonsense_W103X,Nonsense_W75X,Nonsense_W76X,Nonsense_W89X,Nonsense_W100X,Silent,Nonsense_W75X,Silent Variant48413 1 45799124 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Nonsense_W75X,Nonsense_W86X,Nonsense_W90X,Nonsense_W103X,Nonsense_W75X,Nonsense_W76X,Nonsense_W89X,Nonsense_W100X,Silent,Nonsense_W75X,Silent 1:45799125 1 45799125 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Nonsense_W75X,Nonsense_W86X,Nonsense_W90X,Nonsense_W103X,Nonsense_W75X,Nonsense_W76X,Nonsense_W89X,Nonsense_W100X,Silent,Nonsense_W75X,Silent 1:45333453 1 45799125 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Nonsense_W75X,Nonsense_W86X,Nonsense_W90X,Nonsense_W103X,Nonsense_W75X,Nonsense_W76X,Nonsense_W89X,Nonsense_W100X,Silent,Nonsense_W75X,Silent ilmnseq_rs766958451 1 45799133 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Synonymous_L72L,Synonymous_L83L,Synonymous_L87L,Synonymous_L100L,Synonymous_L72L,Synonymous_L73L,Synonymous_L86L,Synonymous_L97L,Silent,Synonymous_L72L,Silent rs138775799 1 45799144 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Nonsense_R69X,Nonsense_R80X,Nonsense_R84X,Nonsense_R97X,Nonsense_R69X,Nonsense_R70X,Nonsense_R83X,Nonsense_R94X,Silent,Nonsense_R69X,Silent ilmnseq_rs750954949 1 45799146 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_F68S,Missense_F79S,Missense_F83S,Missense_F96S,Missense_F68S,Missense_F69S,Missense_F82S,Missense_F93S,Silent,Missense_F68S,Silent rs538419476 1 45799166 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Synonymous_D61D,Synonymous_D72D,Synonymous_D76D,Synonymous_D89D,Synonymous_D61D,Synonymous_D62D,Synonymous_D75D,Synonymous_D86D,Silent,Synonymous_D61D,Silent 1:45799169 1 45799169 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Synonymous_R60R,Synonymous_R71R,Synonymous_R75R,Synonymous_R88R,Synonymous_R60R,Synonymous_R61R,Synonymous_R74R,Synonymous_R85R,Silent,Synonymous_R60R,Silent ilmnseq_rs786201439 1 45799175 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Synonymous_L58L,Synonymous_L69L,Synonymous_L73L,Synonymous_L86L,Synonymous_L58L,Synonymous_L59L,Synonymous_L72L,Synonymous_L83L,Silent,Synonymous_L58L,Silent ilmnseq_rs558707786 1 45799179 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_H57R,Missense_H68R,Missense_H72R,Missense_H85R,Missense_H57R,Missense_H58R,Missense_H71R,Missense_H82R,Silent,Missense_H57R,Silent ilmnseq_rs200747973 1 45799182 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_Y56C,Missense_Y67C,Missense_Y71C,Missense_Y84C,Missense_Y56C,Missense_Y57C,Missense_Y70C,Missense_Y81C,Silent,Missense_Y56C,Silent rs370124822 1 45799185 [C/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Nonsense_S55X,Nonsense_S66X,Nonsense_S70X,Nonsense_S83X,Nonsense_S55X,Nonsense_S56X,Nonsense_S69X,Nonsense_S80X,Silent,Nonsense_S55X,Silent ilmnseq_rs370124822 1 45799185 [C/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Nonsense_S55X,Nonsense_S66X,Nonsense_S70X,Nonsense_S83X,Nonsense_S55X,Nonsense_S56X,Nonsense_S69X,Nonsense_S80X,Silent,Nonsense_S55X,Silent ilmnseq_rs876658645 1 45799188 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_S54Y,Missense_S65Y,Missense_S69Y,Missense_S82Y,Missense_S54Y,Missense_S55Y,Missense_S68Y,Missense_S79Y,Silent,Missense_S54Y,Silent ilmnseq_rs773198648 1 45799189 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_S54P,Missense_S65P,Missense_S69P,Missense_S82P,Missense_S54P,Missense_S55P,Missense_S68P,Missense_S79P,Silent,Missense_S54P,Silent rs376861118 1 45799211 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Synonymous_E46E,Synonymous_E57E,Synonymous_E61E,Synonymous_E74E,Synonymous_E46E,Synonymous_E47E,Synonymous_E60E,Synonymous_E71E,Silent,Synonymous_E46E,Silent ilmnseq_rs1064794128 1 45799216 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_E45K,Missense_E56K,Missense_E60K,Missense_E73K,Missense_E45K,Missense_E46K,Missense_E59K,Missense_E70K,Silent,Missense_E45K,Silent ilmnseq_rs144551668 1 45799217 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Synonymous_P44P,Synonymous_P55P,Synonymous_P59P,Synonymous_P72P,Synonymous_P44P,Synonymous_P45P,Synonymous_P58P,Synonymous_P69P,Silent,Synonymous_P44P,Silent ilmnseq_rs760321509 1 45799241 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Silent,Synonymous_A47A,Silent,Synonymous_A64A,Silent,Silent,Silent,Synonymous_A61A,Silent,Silent,Silent rs763693540 1 45799245 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Silent,Missense_G46V,Silent,Missense_G63V,Silent,Silent,Silent,Missense_G60V,Silent,Silent,Silent ilmnseq_rs878854187 1 45799254 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Silent,Missense_E43G,Silent,Missense_E60G,Silent,Silent,Silent,Missense_E57G,Silent,Silent,Silent 1:45333583 1 45799255 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Silent,Nonsense_E43X,Silent,Nonsense_E60X,Silent,Silent,Silent,Nonsense_E57X,Silent,Silent,Silent rs1060501331 1 45799267 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_G56R,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs560905645 1 45799272 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_C54Y,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs748362676 1 45799279 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs367908623 1 45799287 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs3219485 1 45800033 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1057522475 1 45800054 [T/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:45800060 1 45800060 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs876660488 1 45800072 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_A36T,Missense_A36T,Missense_A50T,Missense_A50T,Missense_A36T,Missense_A36T,Missense_A50T,Missense_A50T,Silent,Missense_A36T,Silent ilmnseq_rs375084663 1 45800079 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Synonymous_K33K,Synonymous_K33K,Synonymous_K47K,Synonymous_K47K,Synonymous_K33K,Synonymous_K33K,Synonymous_K47K,Synonymous_K47K,Silent,Synonymous_K33K,Silent ilmnseq_rs141679570 1 45800091 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Synonymous_N29N,Synonymous_N29N,Synonymous_N43N,Synonymous_N43N,Synonymous_N29N,Synonymous_N29N,Synonymous_N43N,Synonymous_N43N,Silent,Synonymous_N29N,Silent rs876658745 1 45800117 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_G21R,Missense_G21R,Missense_G35R,Missense_G35R,Missense_G21R,Missense_G21R,Missense_G35R,Missense_G35R,Silent,Missense_G21R,Silent 1:45800118 1 45800118 [I/D] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON seq-rs587781704 1 45800129 [D/I] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON ilmnseq_rs587782693 1 45800140 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_R13K,Missense_R13K,Missense_R27K,Missense_R27K,Missense_R13K,Missense_R13K,Missense_R27K,Missense_R27K,Silent,Missense_R13K,Silent ilmnseq_rs776396492 1 45800142 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Synonymous_H12H,Synonymous_H12H,Synonymous_H26H,Synonymous_H26H,Synonymous_H12H,Synonymous_H12H,Synonymous_H26H,Synonymous_H26H,Silent,Synonymous_H12H,Silent rs75321043 1 45800146 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_G11D,Missense_G11D,Missense_G25D,Missense_G25D,Missense_G11D,Missense_G11D,Missense_G25D,Missense_G25D,Silent,Missense_G11D,Silent exm1815490 1 45800146 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_G11D,Missense_G11D,Missense_G25D,Missense_G25D,Missense_G11D,Missense_G11D,Missense_G25D,Missense_G25D,Silent,Missense_G11D,Silent rs876659143 1 45800149 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_S10N,Missense_S10N,Missense_S24N,Missense_S24N,Missense_S10N,Missense_S10N,Missense_S24N,Missense_S24N,Silent,Missense_S10N,Silent rs3219484 1 45800156 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_V8M,Missense_V8M,Missense_V22M,Missense_V22M,Missense_V8M,Missense_V8M,Missense_V22M,Missense_V22M,Silent,Missense_V8M,Silent exm55053 1 45800156 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_V8M,Missense_V8M,Missense_V22M,Missense_V22M,Missense_V8M,Missense_V8M,Missense_V22M,Missense_V22M,Silent,Missense_V8M,Silent ilmnseq_rs201982344 1 45800157 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Synonymous_A7A,Synonymous_A7A,Synonymous_A21A,Synonymous_A21A,Synonymous_A7A,Synonymous_A7A,Synonymous_A21A,Synonymous_A21A,Silent,Synonymous_A7A,Silent ilmnseq_rs1057517460 1 45800158 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_A7V,Missense_A7V,Missense_A21V,Missense_A21V,Missense_A7V,Missense_A7V,Missense_A21V,Missense_A21V,Silent,Missense_A7V,Silent ilmnseq_rs587780081 1 45800164 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_R5Q,Missense_R5Q,Missense_R19Q,Missense_R19Q,Missense_R5Q,Missense_R5Q,Missense_R19Q,Missense_R19Q,Silent,Missense_R5Q,Silent ilmnseq_rs587780088 1 45800165 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Nonsense_R5X,Nonsense_R5X,Nonsense_R19X,Nonsense_R19X,Nonsense_R5X,Nonsense_R5X,Nonsense_R19X,Nonsense_R19X,Silent,Nonsense_R5X,Silent rs79777494 1 45800167 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_P4L,Missense_P4L,Missense_P18L,Missense_P18L,Missense_P4L,Missense_P4L,Missense_P18L,Missense_P18L,Silent,Missense_P4L,Silent exm1815492 1 45800167 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_P4L,Missense_P4L,Missense_P18L,Missense_P18L,Missense_P4L,Missense_P4L,Missense_P18L,Missense_P18L,Silent,Missense_P4L,Silent ilmnseq_rs201163858 1 45800176 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Missense_M1T,Missense_M1T,Missense_M15T,Missense_M15T,Missense_M1T,Missense_M1T,Missense_M15T,Missense_M15T,Silent,Missense_M1T,Silent ilmnseq_rs587780747 1 45800182 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A13V,Missense_A13V,Silent,Silent,Missense_A13V,Missense_A13V,Silent,Silent,Silent ilmnseq_rs375349172 1 45800183 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A13T,Missense_A13T,Silent,Silent,Missense_A13T,Missense_A13T,Silent,Silent,Silent 1:45334513 1 45800185 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs876660715 1 45800188 [A/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs780029247 1 45800190 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3219472 1 45804050 [T/C] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs185172591 1 45805624 [A/G] NR_146882,NM_001293196,NM_001293192,NR_146883,NM_001293195,NM_001293191,NM_001293190,NM_001128425,NM_001048173,NM_001048172,NM_001048171,NM_012222,NM_001350650,NM_001048174,NM_001350651,NM_025077 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,TOE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs2275602 1 45805880 [A/G] NR_146882,NM_001293192,NM_001293190,NM_001128425,NM_001048171,NM_012222,NM_001350650,NM_001350651,NM_025077 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,TOE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs876658588 1 45805886 [T/C] NR_146882,NM_001293192,NM_001293190,NM_001128425,NM_001048171,NM_012222,NM_001350650,NM_001350651,NM_025077 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,TOE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:45340218 1 45805890 [T/C] NR_146882,NM_001293192,NM_001293190,NM_001128425,NM_001048171,NM_012222,NM_001350650,NM_001350651,NM_025077 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,TOE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:45805890 1 45805890 [T/C] NR_146882,NM_001293192,NM_001293190,NM_001128425,NM_001048171,NM_012222,NM_001350650,NM_001350651,NM_025077 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,TOE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:45805892 1 45805892 [T/C] NR_146882,NM_001293192,NM_001293190,NM_001128425,NM_001048171,NM_012222,NM_001350650,NM_001350651,NM_025077 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,TOE1 EXON Silent,Silent,Nonsense_W12X,Nonsense_W12X,Nonsense_W12X,Nonsense_W12X,Silent,Silent,Silent ilmnseq_rs958040221 1 45805918 [T/C] NR_146882,NM_001293192,NM_001293190,NM_001128425,NM_001048171,NM_012222,NM_001350650,NM_001350651,NM_025077 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,TOE1 EXON Silent,Silent,Synonymous_P3P,Synonymous_P3P,Synonymous_P3P,Synonymous_P3P,Silent,Silent,Silent ilmnseq_rs876659248 1 45805930 [T/C] NR_146882,NM_001293192,NM_001293190,NM_001128425,NM_001048171,NM_012222,NM_001350650,NM_001350651,NM_025077 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,TOE1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_A2A exm55063 1 45806750 [G/C] NM_025077 TOE1 EXON Missense_V20L exm55064 1 45806765 [A/T] NM_025077 TOE1 EXON Missense_T25S exm55065 1 45806768 [T/G] NM_025077 TOE1 EXON Missense_S26A exm55068 1 45806798 [A/G] NM_025077 TOE1 EXON Missense_V36I JHU_1.45806932 1 45806933 [A/G] NM_025077 TOE1 Silent exm55079 1 45807150 [T/C] NM_025077 TOE1 EXON Missense_I81T exm55083 1 45807631 [T/C] NM_025077 TOE1 EXON Missense_S115F var_1_45807784 1 45807784 [A/G] NM_025077 TOE1 Silent 1:45808096-TG 1 45808096 [T/G] NM_025077 TOE1 EXON Missense_L178R indel.3100 1 45808276 [I/D] NM_025077 TOE1 EXON 1:45808281-GA 1 45808281 [A/G] NM_025077 TOE1 EXON Missense_V240M exm55095 1 45808538 [A/G] NM_025077 TOE1 EXON Missense_R259Q chr1_45808588 1 45808588 [A/G] NM_025077 TOE1 EXON Missense_S276G 1:45808779-CCA-C 1 45808779 [I/D] NM_025077 TOE1 EXON 1:45808899-CT 1 45808899 [T/C] NM_025077 TOE1 EXON Missense_P353L exm55114 1 45808937 [T/C] NM_025077 TOE1 EXON Missense_P366S exm55117 1 45808982 [A/G] NM_025077 TOE1 EXON Missense_E381K exm55120 1 45809001 [A/G] NM_025077 TOE1 EXON Missense_D387G exm55122 1 45809028 [A/G] NM_025077 TOE1 EXON Missense_K396R indel.3101 1 45809109 [I/D] NM_025077 TOE1 EXON exm55128 1 45809220 [T/C] NM_025077 TOE1 EXON Missense_P460L rs77932721 1 45809944 [T/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Silent 1:45810516-CA 1 45810516 [A/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_G488V,Missense_G571V exm55133 1 45810531 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_Q483R,Missense_Q566R chr1_45810552 1 45810552 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_S476L,Missense_S559L exm55142 1 45810730 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R417W,Missense_R500W 1:45810807-CT 1 45810807 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R391Q,Missense_R474Q exm55147 1 45810808 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R391W,Missense_R474W exm55149 1 45810865 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R372C,Missense_R455C 1:45810915-AG 1 45810915 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_M355T,Missense_M438T rs3893383 1 45810923 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Synonymous_P352P,Synonymous_P435P 1:45811045-GA 1 45811045 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R312C,Missense_R395C 1:45811060-GA 1 45811060 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Nonsense_R307X,Nonsense_R390X exm55166 1 45811065 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R305Q,Missense_R388Q 1:45811095-CT 1 45811095 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R295H,Missense_R378H exm55168 1 45811096 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R295C,Missense_R378C exm55169 1 45811107 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R291H,Missense_R374H exm2233471 1 45811119 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_D287G,Missense_D370G JHU_1.45811135 1 45811136 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Synonymous_L281L,Synonymous_L364L exm55178 1 45811603 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R232C,Missense_R315C exm55180 1 45811663 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_D212N,Missense_D295N variant.3105 1 45812365 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Synonymous_N210N,Synonymous_N293N exm55182 1 45812445 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_G184R,Missense_G267R exm55184 1 45812691 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_A168V,Missense_A251V 1:45813597-CT 1 45813597 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_D123N,Missense_D206N exm55193 1 45813651 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_E105K,Missense_E188K exm55194 1 45813656 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_R103K,Missense_R186K rs79410320 1 45817872 [C/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs9429076 1 45819489 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs7519633 1 45821478 [A/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs75130677 1 45821618 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent JHU_1.45822439 1 45822440 [A/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent JHU_1.45822915 1 45822916 [T/A] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent JHU_1.45822979 1 45822980 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent exm55203 1 45851627 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Missense_M34T,Missense_M117T JHU_1.45863018 1 45863019 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs781226 1 45872662 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs6657284 1 45879088 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs11808204 1 45880074 [A/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent JHU_1.45888835 1 45888836 [T/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent JHU_1.45889728 1 45889729 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs12139364 1 45890155 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent JHU_1.45893810 1 45893811 [A/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs115586379 1 45895153 [A/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs10493120 1 45903488 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent 1:45909878-T-A 1 45909878 [T/A] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs1006216 1 45909994 [A/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent JHU_1.45919033 1 45919034 [A/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent 1:45923303-CA 1 45923303 [A/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Missense_R52I indel.3107 1 45923307 [I/D] NM_001320800,NM_007170 TESK2,TESK2 EXON exm55222 1 45923364 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Missense_V32M exm55223 1 45923396 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Missense_E21G exm55226 1 45923415 [A/G] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Missense_R15C 1:45923450-CT 1 45923450 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Missense_R3Q rs10789463 1 45927848 [A/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs12738318 1 45929589 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent JHU_1.45931746 1 45931747 [A/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs12039259 1 45935849 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs12137389 1 45938386 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs78935572 1 45951806 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs28532613 1 45952366 [A/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs12743512 1 45954033 [A/G] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent rs4660863 1 45955868 [T/C] NM_001320800,NM_007170 TESK2,TESK2 Silent,Silent JHU_1.45956728 1 45956729 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Silent JHU_1.45956802 1 45956803 [T/C] NM_001320800,NM_007170 TESK2,TESK2 EXON Silent,Silent 1:45960762-GA 1 45960762 [A/G] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 EXON Silent,Missense_T136I,Silent,Silent,Missense_T156I,Silent,Silent,Silent,Silent 1:45960835-GA 1 45960835 [A/G] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 EXON Silent,Missense_P112S,Silent,Silent,Missense_P132S,Silent,Silent,Silent,Silent rs11211124 1 45962409 [T/C] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.45962893 1 45962894 [T/G] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.3111 1 45962969 [D/I] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 newrs72898310 1 45962983 [A/G] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 EXON Silent,Nonsense_Q84X,Silent,Silent,Nonsense_Q84X,Silent,Silent,Nonsense_Q84X,Silent 1:45965099-AG 1 45965099 [A/G] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 EXON Silent,Missense_L32P,Silent,Silent,Missense_L32P,Silent,Silent,Missense_L32P,Silent 1:45965212-GA 1 45965212 [A/G] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 EXON Silent,Missense_R24W,Silent,Silent,Missense_R24W,Silent,Silent,Missense_R24W,Silent indel.3113 1 45965247 [I/D] NR_033297,NM_001102601,NR_033298,NR_152411,NM_001358407,NR_152413,NR_152412,NM_001358406,NR_152414 CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163,CCDC163 EXON rs3748644 1 45965771 [A/G] Variant48417 1 45966005 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_M1V Variant48418 1 45966007 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_M1I seq-rs779893448 1 45966007 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_M1I exm55246 1 45966012 [G/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_P3R 1:45966044-GA 1 45966044 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_D14N rs201898615 1 45966071 [T/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_V23F exm55252 1 45966071 [T/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_V23F variant.3115 1 45966084 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_Q27R 1:45966086-GA 1 45966086 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC Silent,Silent rs12123350 1 45968686 [G/C] NM_001330540,NM_015506 MMACHC,MMACHC Silent,Silent rs12029322 1 45970446 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC Silent,Silent JHU_1.45970789 1 45970790 [T/A] NM_001330540,NM_015506 MMACHC,MMACHC Silent,Silent rs10789465 1 45971759 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC Silent,Silent Variant48422 1 45973036 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Nonsense_W30X chr1_45973103 1 45973103 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Missense_L53F rs6662272 1 45973124 [C/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_D3H,Missense_D60H exm55255 1 45973124 [C/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_D3H,Missense_D60H exm55256 1 45973127 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R4W,Missense_R61W exm55257 1 45973128 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R4Q,Missense_R61Q seq-rs796051995 1 45973163 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_R16X,Nonsense_R73X ilmnseq_rs543840147 1 45973216 [I/D] NM_001330540,NM_015506 MMACHC,MMACHC EXON ilmnseq_rs398124292 1 45973217 [I/D] NM_001330540,NM_015506 MMACHC,MMACHC EXON Variant48423 1 45973222 [T/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_E35D,Missense_E92D rs199889403 1 45973880 [C/G] NM_001330540,NM_015506 MMACHC,MMACHC Silent,Silent Variant48424 1 45973899 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_Q41X,Nonsense_Q98X exm55264 1 45973923 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_E49K,Missense_E106K rs201617713 1 45973923 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_E49K,Missense_E106K Variant15900 1 45973933 [I/D] NM_001330540,NM_015506 MMACHC,MMACHC EXON 1:45973933-CT 1 45973933 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_P52L,Missense_P109L 1:45973938-C-T 1 45973938 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_R54X,Nonsense_R111X ilmnseq_rs121918242 1 45973938 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_R54X,Nonsense_R111X rs121918242 1 45973938 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_R54X,Nonsense_R111X exm55266 1 45973939 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R54Q,Missense_R111Q exm2233473 1 45973941 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R55C,Missense_R112C rs187869948 1 45973941 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R55C,Missense_R112C rs121918240 1 45973954 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_L59P,Missense_L116P 1:45973954-T-C 1 45973954 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_L59P,Missense_L116P Variant15901 1 45973957 [D/I] NM_001330540,NM_015506 MMACHC,MMACHC EXON seq-rs796051998 1 45973989 [D/I] NM_001330540,NM_015506 MMACHC,MMACHC EXON Variant48428 1 45973995 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_Y73H,Missense_Y130H Variant48429 1 45973996 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_Y73C,Missense_Y130C Variant15902 1 45973998 [I/D] NM_001330540,NM_015506 MMACHC,MMACHC EXON rs121918241 1 45974001 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_R75X,Nonsense_R132X 1:45974001-C-T 1 45974001 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_R75X,Nonsense_R132X Variant15903 1 45974005 [I/D] NM_001330540,NM_015506 MMACHC,MMACHC EXON seq-rs796051996 1 45974027 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_W83X,Nonsense_W140X rs140522266 1 45974478 [G/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_G90A,Missense_G147A exm55272 1 45974478 [G/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_G90A,Missense_G147A seq-rs796051999 1 45974479 [I/D] NM_001330540,NM_015506 MMACHC,MMACHC EXON Variant48434 1 45974490 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_H94R,Missense_H151R Variant48436 1 45974495 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_R96X,Nonsense_R153X rs201312386 1 45974510 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_F101L,Missense_F158L exm55273 1 45974510 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_F101L,Missense_F158L rs370596113 1 45974519 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_R104X,Nonsense_R161X 1:45974520-GA 1 45974520 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R104Q,Missense_R161Q seq-rs398124293 1 45974583 [D/I] NM_001330540,NM_015506 MMACHC,MMACHC EXON 1:45974586-TC 1 45974586 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_V126A,Missense_V183A seq-rs796051997 1 45974638 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_W143X,Nonsense_W200X ilmnseq_rs398124295 1 45974646 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_W146X,Nonsense_W203X Variant48442 1 45974646 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_W146X,Nonsense_W203X IlmnSeq_rs587776889 1 45974647 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_W146X,Nonsense_W203X 1:45974647-G-A 1 45974647 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_W146X,Nonsense_W203X Variant48445 1 45974653 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Synonymous_Y148Y,Synonymous_Y205Y seq-rs538023671 1 45974654 [C/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R149G,Missense_R206G 1:45974655-GA 1 45974655 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R149Q,Missense_R206Q rs192924272 1 45974669 [A/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_P154T,Missense_P211T ilmnseq_rs398124296 1 45974696 [I/D] NM_001330540,NM_015506 MMACHC,MMACHC EXON Variant48446 1 45974704 [A/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Nonsense_Y165X,Nonsense_Y222X exm2273648 1 45974721 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_A171V,Missense_A228V rs34258482 1 45974837 [T/C] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_R210W,Missense_R267W exm55301 1 45974849 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_S214G,Missense_S271G seq-rs201025783 1 45974886 [T/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Missense_X226L,Missense_X283L rs882803 1 45976147 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Silent JHU_1.45976248 1 45976249 [A/G] NM_001330540,NM_015506 MMACHC,MMACHC EXON Silent,Silent var_1_45977087 1 45977087 [A/C] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 Silent,Silent,Silent,Silent rs4660306 1 45978675 [T/C] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 Silent,Silent,Silent,Silent 1:45981414-CA 1 45981414 [A/C] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 EXON Missense_A58S,Missense_A58S,Missense_A58S,Missense_A58S exm55325 1 45981416 [A/G] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 EXON Missense_I57T,Missense_I57T,Missense_I57T,Missense_I57T rs6699702 1 45981834 [T/C] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 Silent,Silent,Silent,Silent rs10736426 1 45984353 [A/G] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 Silent,Silent,Silent,Silent indel.3133 1 45984619 [I/D] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 EXON newrs142967305 1 45984662 [T/G] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 EXON Synonymous_T18T,Synonymous_T18T,Synonymous_T18T,Synonymous_T18T rs35645395 1 45987126 [A/G] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 Silent,Silent,Silent,Silent rs17522918 1 45987574 [A/C] NM_181697,NM_181696,NM_001202431,NM_002574 PRDX1,PRDX1,PRDX1,PRDX1 EXON Silent,Silent,Silent,Silent 1:45988267-C-G 1 45988267 [C/G] NM_001202431 PRDX1 Silent rs11211133 1 45991079 [A/G] JHU_1.45997600 1 45997601 [A/C] rs188328228 1 46003105 [T/G] rs512026 1 46009946 [T/G] JHU_1.46011473 1 46011474 [A/T] rs666720 1 46020795 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent rs117951485 1 46021527 [A/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent rs12049503 1 46021556 [A/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent JHU_1.46025022 1 46025023 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent 1:46027471-CT 1 46027471 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_A2V,Missense_A2V,Missense_A2V,Missense_A2V exm55337 1 46027477 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_S4F,Missense_S4F,Missense_S4F,Missense_S4F variant.3135 1 46032240 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent var_1_46032295 1 46032296 [D/I] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON exm55343 1 46032307 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_G51S,Missense_G51S,Missense_G51S,Missense_G51S exm55344 1 46032311 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_N52S,Missense_N52S,Missense_N52S,Missense_N52S newrs150476930 1 46032360 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Synonymous_K68K,Synonymous_K68K,Synonymous_K68K,Synonymous_K68K newrs181804004 1 46032365 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent 1:46032542-CT 1 46032542 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_A69V,Missense_A69V,Missense_A69V,Missense_A69V 1:46033703-GA 1 46033703 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_D136N,Missense_D136N,Missense_D136N,Missense_D136N 1:46033721-GA 1 46033721 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_E142K,Missense_E142K,Missense_E142K,Missense_E142K exm55365 1 46033748 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_V151M,Missense_V151M,Missense_V151M,Missense_V151M 1:46034201-CA 1 46034201 [A/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_H199Q,Missense_H199Q,Missense_H199Q,Missense_H199Q exm55370 1 46034263 [T/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_W220L,Missense_W220L,Missense_W220L,Missense_W220L exm55371 1 46034301 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_V233I,Missense_V233I,Missense_V233I,Missense_V233I exm55372 1 46034329 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_G242D,Missense_G242D,Missense_G242D,Missense_G242D variant.3144 1 46034651 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Nonsense_R269X,Nonsense_R269X,Nonsense_R269X,Nonsense_R269X exm55377 1 46034652 [A/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_R269Q,Missense_R269Q,Missense_R269Q,Missense_R269Q 1:46034816-TC 1 46034816 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_V276A,Missense_V276A,Missense_V276A,Missense_V276A variant.3145 1 46034842 [T/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Nonsense_E285X,Nonsense_E285X,Nonsense_E285X,Nonsense_E285X exm55380 1 46034879 [T/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_R297I,Missense_R297I,Missense_R297I,Missense_R297I exm1816003 1 46034894 [T/G] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_M302R,Missense_M302R,Missense_M302R,Missense_M302R 1:46034900-CT 1 46034900 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_T304M,Missense_T304M,Missense_T304M,Missense_T304M exm55385 1 46035599 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_P317S,Missense_P317S,Missense_P317S,Missense_P317S exm55390 1 46035621 [T/C] NM_153326,NM_001202414,NM_001202413,NM_006066 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_P324L,Missense_P324L,Missense_P324L,Missense_P324L rs518216 1 46037357 [T/C] rs2934857 1 46039612 [A/G] exm55392 1 46049849 [G/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_V11L,Missense_V11L,Missense_V11L rs114646271 1 46055670 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent variant.3146 1 46056893 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent exm55396 1 46056939 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_E35G,Missense_E35G,Missense_E35G JHU_1.46065624 1 46065625 [T/A] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent 1:46066120-GT 1 46066120 [T/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent indel.3147 1 46067948 [D/I] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON rs193229931 1 46072887 [C/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent exm55429 1 46073361 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Nonsense_Q260X,Nonsense_Q196X exm55430 1 46073362 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Missense_Q260R,Missense_Q196R exm55436 1 46073451 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Missense_G290S,Missense_G226S 1:46073508-GA 1 46073508 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Missense_V309M,Missense_V245M exm1816065 1 46073517 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Missense_D312N,Missense_D248N 1:46073565-GA 1 46073565 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Missense_A328T,Missense_A264T variant.3149 1 46073577 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Nonsense_Q332X,Nonsense_Q268X 1:46073586-GA 1 46073586 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Missense_G335S,Missense_G271S 1:46074016-GA 1 46074016 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent JHU_1.46074632 1 46074633 [A/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent rs78929101 1 46075107 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent rs79196875 1 46075405 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent rs12043384 1 46075609 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent exm55462 1 46079969 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_E194K,Missense_E533K,Missense_E469K rs139279656 1 46080809 [C/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_N258K,Missense_N597K,Missense_N533K exm55468 1 46080844 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_K270R,Missense_K609R,Missense_K545R exm55469 1 46080849 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_I272V,Missense_I611V,Missense_I547V 1:46080871-TC 1 46080871 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_M279T,Missense_M618T,Missense_M554T rs2297653 1 46080871 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_M279T,Missense_M618T,Missense_M554T exm55473 1 46080988 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_E284K,Missense_E623K,Missense_E559K 1:46081103-GA 1 46081103 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_R322H,Missense_R661H,Missense_R597H rs189842615 1 46081138 [A/T] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_T334S,Missense_T673S,Missense_T609S rs145153760 1 46081578 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP Silent,Silent,Silent exm55481 1 46082061 [C/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_S353C,Missense_S692C,Missense_S628C rs142910043 1 46082061 [C/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_S353C,Missense_S692C,Missense_S628C exm55486 1 46082322 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_G363S,Missense_G702S,Missense_G638S rs144748411 1 46082322 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_G363S,Missense_G702S,Missense_G638S rs79196747 1 46083166 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_D391G,Missense_D730G,Missense_D666G exm55493 1 46083166 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_D391G,Missense_D730G,Missense_D666G exm55498 1 46083226 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_P411L,Missense_P750L,Missense_P686L 1:46083757-GA 1 46083757 [A/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Missense_A432T,Missense_A771T,Missense_A707T JHU_1.46084083 1 46084084 [T/C] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Silent,Silent rs1053941 1 46084383 [T/G] NM_152298,NM_002482,NM_001195193 NASP,NASP,NASP EXON Silent,Silent,Silent 1:46084710-A-T 1 46084710 [A/T] JHU_1.46085049 1 46085050 [T/A] indel.3152 1 46085956 [I/D] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON 1:46086017-CA 1 46086017 [A/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_S600I,Missense_S591I 1:46086077-CT 1 46086077 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_S580N,Missense_S571N rs11590549 1 46086329 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 Silent,Silent 1:46086396-GA 1 46086396 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_P570L,Missense_P561L Variant37901 1 46086404 [T/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Nonsense_Y567X,Nonsense_Y558X exm55517 1 46086436 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_I557V,Missense_I548V indel.3153 1 46086466 [I/D] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON exm55518 1 46086469 [A/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_A546S,Missense_A537S 1:46086580-GA 1 46086580 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_P532S,Missense_P523S 1:46086628-CT 1 46086628 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_A516T,Missense_A507T exm55527 1 46086649 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_R509C,Missense_R500C newrs143908062 1 46086738 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Nonsense_W479X,Nonsense_W470X exm55532 1 46086766 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_V470I,Missense_V461I 1:46086957-GA 1 46086957 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_P462S,Missense_P453S exm55536 1 46087002 [A/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_G447W,Missense_G438W 1:46087125-GA 1 46087125 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_R406W,Missense_R397W indel.3158 1 46087134 [D/I] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON exm55539 1 46087313 [C/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_P394R,Missense_P385R 1:46087354-GGAGGAAGTGT-G 1 46087354 [I/D] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON 1:46087577-GA 1 46087577 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_P353L,Missense_P344L 1:46087637-GA 1 46087637 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_A333V,Missense_A324V 1:46087879-A-G 1 46087879 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 Silent,Silent exm55551 1 46088002 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_S293L,Missense_S284L 1:46088441-GA 1 46088441 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_T241I,Missense_T232I exm55565 1 46088475 [C/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_L230V,Missense_L221V 1:46088489-CT 1 46088489 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_R225Q,Missense_R216Q 1:46088507-CG 1 46088507 [G/C] NM_001114938,NM_001190182 CCDC17,CCDC17 Silent,Silent exm55567 1 46088663 [A/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_L207W,Missense_L198W 1:46088756-GT 1 46088756 [T/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_T176K,Missense_T167K 1:46088780-CT 1 46088780 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_R168Q,Missense_R159Q Variant37903 1 46088888 [A/C] NM_001114938,NM_001190182 CCDC17,CCDC17 Silent,Silent chr1_46089015 1 46089015 [T/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_P123T,Missense_P114T 1:46089285-GA 1 46089285 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Nonsense_Q72X,Nonsense_Q72X 1:46089287-GT 1 46089287 [T/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_P71H,Missense_P71H exm55573 1 46089315 [A/G] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Nonsense_Q62X,Nonsense_Q62X 1:46089415-CT 1 46089415 [T/C] NM_001114938,NM_001190182 CCDC17,CCDC17 EXON Missense_R56Q,Missense_R56Q JHU_1.46091639 1 46091640 [T/C] rs79122294 1 46091686 [A/G] rs61789991 1 46091749 [A/G] JHU_1.46092790 1 46092791 [A/T] rs1250 1 46094027 [A/G] NM_021639 GPBP1L1 EXON Synonymous_S442S exm55582 1 46094034 [T/C] NM_021639 GPBP1L1 EXON Missense_S440N exm55583 1 46094037 [T/C] NM_021639 GPBP1L1 EXON Missense_R439H rs75420580 1 46094905 [A/C] NM_021639 GPBP1L1 Silent JHU_1.46095126 1 46095127 [T/C] NM_021639 GPBP1L1 Silent 1:46095318-GA 1 46095318 [A/G] NM_021639 GPBP1L1 EXON Missense_P401L 1:46096266-CTGT-C 1 46096266 [I/D] NM_021639 GPBP1L1 EXON newrs141022457 1 46099160 [T/C] NM_021639 GPBP1L1 Silent exm55601 1 46099220 [A/G] NM_021639 GPBP1L1 EXON Synonymous_L329L 1:46099295-TC 1 46099295 [T/C] NM_021639 GPBP1L1 EXON Missense_I304V exm55605 1 46099788 [A/C] NM_021639 GPBP1L1 EXON Missense_A289S exm55606 1 46099793 [T/C] NM_021639 GPBP1L1 EXON Missense_G287D exm55607 1 46099794 [T/C] NM_021639 GPBP1L1 EXON Missense_G287S rs10890333 1 46100322 [T/C] NM_021639 GPBP1L1 Silent rs4431884 1 46101323 [T/C] NM_021639 GPBP1L1 Silent rs12023439 1 46104636 [T/C] NM_021639 GPBP1L1 Silent exm55616 1 46106052 [A/G] NM_021639 GPBP1L1 EXON Missense_P192S exm55617 1 46106069 [A/G] NM_021639 GPBP1L1 EXON Missense_P186L rs117812187 1 46107857 [A/G] NM_021639 GPBP1L1 Silent 1:46108109-CAGA-C 1 46108109 [I/D] NM_021639 GPBP1L1 EXON rs78246639 1 46108799 [A/G] NM_021639 GPBP1L1 Silent rs79672122 1 46116053 [C/G] NM_021639 GPBP1L1 Silent JHU_1.46118392 1 46118393 [T/A] NM_021639 GPBP1L1 Silent exm55627 1 46120308 [T/A] NM_021639 GPBP1L1 EXON Missense_K128N exm55628 1 46120313 [A/G] NM_021639 GPBP1L1 EXON Missense_R127W indel.3165 1 46120884 [I/D] NM_021639 GPBP1L1 EXON exm55642 1 46120885 [T/C] NM_021639 GPBP1L1 EXON Missense_N56S exm55643 1 46120890 [T/A] NM_021639 GPBP1L1 EXON Missense_F54L 1:46120964-CT 1 46120964 [T/C] NM_021639 GPBP1L1 EXON Missense_G30R rs3811436 1 46125880 [T/C] NM_021639 GPBP1L1 EXON Silent JHU_1.46126853 1 46126854 [T/C] NM_021639 GPBP1L1 EXON Silent rs12024590 1 46127496 [A/C] NM_021639 GPBP1L1 Silent JHU_1.46129379 1 46129380 [A/G] NM_021639 GPBP1L1 Silent rs11211157 1 46132844 [T/C] NM_021639 GPBP1L1 Silent rs10430105 1 46138876 [A/G] NM_021639 GPBP1L1 Silent rs116294600 1 46145295 [T/A] NM_021639 GPBP1L1 Silent rs141028557 1 46147515 [C/G] NM_021639 GPBP1L1 Silent rs3013595 1 46153203 [A/G] rs118005215 1 46154090 [T/C] NM_016486 TMEM69 Silent rs115309188 1 46154551 [A/G] NM_016486 TMEM69 Silent exm55656 1 46156748 [A/G] NM_016486 TMEM69 EXON Missense_R3H indel.3166 1 46156768 [D/I] NM_016486 TMEM69 EXON variant.3167 1 46156782 [A/G] NM_016486 TMEM69 EXON Synonymous_K14K rs10789470 1 46158331 [T/G] NM_016486 TMEM69 Silent indel.3168 1 46158965 [I/D] NM_016486 TMEM69 EXON variant.3169 1 46158979 [A/G] NM_016486 TMEM69 EXON Nonsense_W49X exm55664 1 46158981 [T/C] NM_016486 TMEM69 EXON Missense_L50F indel.3170 1 46159032 [I/D] NM_016486 TMEM69 EXON exm55672 1 46159158 [A/G] NM_016486 TMEM69 EXON Missense_V109I exm55676 1 46159201 [T/C] NM_016486 TMEM69 EXON Missense_P123L 1KG_1_46159242 1 46159242 [I/D] NM_016486 TMEM69 EXON exm55685 1 46159395 [A/G] NM_016486 TMEM69 EXON Missense_T188A exm55687 1 46160124 [T/C] NM_001145349 IPP EXON Missense_H572R indel.3172 1 46160137 [I/D] NM_001145349 IPP EXON exm55688 1 46160173 [T/C] NM_001145349 IPP EXON Missense_E556K variant.3173 1 46165737 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Silent,Synonymous_T552T exm55693 1 46165780 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_S538F,Missense_S538F 1:46165793-GA 1 46165793 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_L534F,Missense_L534F rs76775457 1 46167552 [A/G] NM_001145349,NM_005897 IPP,IPP Silent,Silent exm55699 1 46179997 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_N484S,Missense_N484S 1:46180072-TC 1 46180072 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_D459G,Missense_D459G rs142095376 1 46182597 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_R427C,Missense_R427C exm55706 1 46182597 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_R427C,Missense_R427C JHU_1.46182914 1 46182915 [A/C] NM_001145349,NM_005897 IPP,IPP Silent,Silent Variant12381 1 46184897 [D/I] NM_001145349,NM_005897 IPP,IPP EXON 1:46184917-CT 1 46184917 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_G382S,Missense_G382S indel.3175 1 46195352 [I/D] NM_001145349,NM_005897 IPP,IPP EXON exm55722 1 46195375 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_K264R,Missense_K264R exm55724 1 46195420 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_R249H,Missense_R249H exm55725 1 46195433 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_D245N,Missense_D245N rs78761596 1 46204098 [A/G] NM_001145349,NM_005897 IPP,IPP Silent,Silent exm55730 1 46206577 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_I240M,Missense_I240M exm55734 1 46206636 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_E221K,Missense_E221K variant.3177 1 46206702 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Nonsense_Q199X,Nonsense_Q199X 1:46206801-AG 1 46206801 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_F166L,Missense_F166L 1:46206845-CT 1 46206845 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_C151Y,Missense_C151Y exm55746 1 46206878 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_I140T,Missense_I140T exm55750 1 46206992 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Missense_I102T,Missense_I102T 1:46211879-CA 1 46211879 [A/C] NM_001145349,NM_005897 IPP,IPP EXON Nonsense_G69X,Nonsense_G69X rs201149167 1 46211953 [T/C] NM_001145349,NM_005897 IPP,IPP EXON Missense_G44E,Missense_G44E exm2251866 1 46212000 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Synonymous_N28N,Synonymous_N28N rs144347957 1 46218035 [A/G] rs28545579 1 46218135 [A/C] 1:46219376-C-T 1 46219376 [T/C] rs11211176 1 46223086 [A/G] rs11211177 1 46226349 [A/G] JHU_1.46227709 1 46227710 [T/C] kgp3664518 1 46228391 [A/G] rs4660314 1 46229885 [T/C] JHU_1.46235997 1 46235998 [A/T] rs148346805 1 46241803 [A/G] rs6702764 1 46252717 [T/C] rs12076580 1 46258159 [A/G] 1:46275185-T-C 1 46275185 [T/C] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent rs183622217 1 46280150 [T/A] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent rs114865208 1 46284573 [A/C] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent exm2268680 1 46287869 [T/C] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent 1:46288352-T-C 1 46288352 [T/C] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent variant.3180 1 46290189 [T/C] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 EXON Nonsense_Q88X,Nonsense_Q88X,Nonsense_Q88X var_1_46290257 1 46290257 [A/G] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent exm55782 1 46295147 [C/G] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 EXON Missense_S121T,Missense_S121T,Missense_S121T rs143049133 1 46307032 [T/C] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent JHU_1.46314007 1 46314008 [A/C] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent rs11211204 1 46317864 [A/G] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent JHU_1.46327832 1 46327833 [G/C] NM_001324320,NM_015112,NM_001319245 MAST2,MAST2,MAST2 Silent,Silent,Silent JHU_1.46341833 1 46341834 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent 1:46343244-C-T 1 46343244 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent indel.3182 1 46348034 [I/D] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 JHU_1.46352018 1 46352019 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs10890363 1 46356148 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs76123431 1 46357802 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46359270 1 46359271 [T/A] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46375798 1 46375799 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs190406051 1 46376279 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46377524 1 46377525 [T/A] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46380569 1 46380570 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs11211223 1 46380605 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent 1:46383054-TG 1 46383054 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent variant.3183 1 46383207 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46383939 1 46383940 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs138713165 1 46384592 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46385463 1 46385464 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46385467 1 46385468 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs76305654 1 46392047 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent 1:46395158-A-T 1 46395158 [A/T] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46398921 1 46398922 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46405652 1 46405653 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs11211230 1 46406767 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs10789485 1 46407308 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46408368 1 46408369 [A/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs10789486 1 46408667 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs11211232 1 46411146 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent exm55791 1 46425062 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R169W,Missense_R169W,Missense_R169W,Missense_R8W rs4420029 1 46425500 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs370527979 1 46432714 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46445104 1 46445105 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46445107 1 46445108 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs10890380 1 46449469 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs72692641 1 46449685 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46455432 1 46455433 [G/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs4660905 1 46461587 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46463762 1 46463763 [C/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent variant.3184 1 46468560 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46471514 1 46471515 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent exm1817007 1 46474001 [A/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_E319D,Missense_E312D,Missense_E312D,Missense_E158D rs77827945 1 46474327 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent chr1_46476445 1 46476445 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_S348F,Missense_S341F,Missense_S341F,Missense_S187F exm55806 1 46476447 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_N349D,Missense_N342D,Missense_N342D,Missense_N188D 1:46476518-GA 1 46476518 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_M372I,Missense_M365I,Missense_M365I,Missense_M211I 1:46476576-GA 1 46476576 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_E392K,Missense_E385K,Missense_E385K,Missense_E231K exm55812 1 46476587 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_D395E,Missense_D388E,Missense_D388E,Missense_D234E rs11211248 1 46476844 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs41291502 1 46476864 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent rs11810993 1 46478793 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent 1:46485275-AG 1 46485275 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_E406G,Missense_E399G,Missense_E399G,Missense_E245G rs11211250 1 46485914 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46485913 1 46485914 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent 1:46487673-GA 1 46487673 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_A455T,Missense_A448T,Missense_A448T,Missense_A294T exm55823 1 46487710 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R467H,Missense_R460H,Missense_R460H,Missense_R306H 1:46488597-GA 1 46488597 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_S487N,Missense_S480N,Missense_S480N,Missense_S326N exm55842 1 46489482 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R544H,Missense_R537H,Missense_R537H,Missense_R383H 1:46489605-CA 1 46489605 [A/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_S585Y,Missense_S578Y,Missense_S578Y,Missense_S424Y exm55861 1 46493460 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_I666M,Missense_I659M,Missense_I659M,Missense_I505M exm55868 1 46495139 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Synonymous_D747D,Synonymous_D740D,Synonymous_D740D,Synonymous_D586D exm55870 1 46495155 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_E753K,Missense_E746K,Missense_E746K,Missense_E592K JHU_1.46495408 1 46495409 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent JHU_1.46495433 1 46495434 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent variant.3188 1 46495630 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 Silent,Silent,Silent,Silent exm55877 1 46495813 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R826Q,Missense_R819Q,Missense_R819Q,Missense_R665Q exm55886 1 46496298 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R865Q,Missense_R858Q,Missense_R858Q,Missense_R704Q 1:46496319-GA 1 46496319 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R872H,Missense_R865H,Missense_R865H,Missense_R711H 1:46496360-AG 1 46496360 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_K886E,Missense_K879E,Missense_K879E,Missense_K725E 1:46496400-GA 1 46496400 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R899Q,Missense_R892Q,Missense_R892Q,Missense_R738Q exm55906 1 46496777 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_A943V,Missense_A936V,Missense_A936V,Missense_A782V 1:46496839-GA 1 46496839 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_G964S,Missense_G957S,Missense_G957S,Missense_G803S exm55918 1 46496942 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R998Q,Missense_R991Q,Missense_R991Q,Missense_R837Q 1:46497155-CT 1 46497155 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1036W,Missense_R1029W,Missense_R1029W,Missense_R875W 1:46497255-CT 1 46497255 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_S1069L,Missense_S1062L,Missense_S1062L,Missense_S908L exm55939 1 46498018 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1126Q,Missense_R1119Q,Missense_R1119Q,Missense_R965Q exm55943 1 46498287 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_P1152L,Missense_P1145L,Missense_P1145L,Missense_P991L 1:46498289-GA 1 46498289 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_A1153T,Missense_A1146T,Missense_A1146T,Missense_A992T exm2251876 1 46498375 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Synonymous_V1181V,Synonymous_V1174V,Synonymous_V1174V,Synonymous_V1020V rs1622208 1 46498375 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Synonymous_V1181V,Synonymous_V1174V,Synonymous_V1174V,Synonymous_V1020V exm55949 1 46499526 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_K1204R,Missense_K1197R,Missense_K1197R,Missense_K1043R exm55957 1 46499771 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_K1241R,Missense_K1234R,Missense_K1233R,Missense_K1080R exm55958 1 46499795 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_L1249P,Missense_L1242P,Missense_L1241P,Missense_L1088P chr1_46499871 1 46499871 [A/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_H1274Q,Missense_H1267Q,Missense_H1266Q,Missense_H1113Q exm55966 1 46500251 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_V1311M,Missense_V1304M,Missense_V1303M,Missense_V1150M exm1817154 1 46500332 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1338C,Missense_R1331C,Missense_R1330C,Missense_R1177C exm55970 1 46500345 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1342H,Missense_R1335H,Missense_R1334H,Missense_R1181H 1:46500444-GA 1 46500444 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_G1375D,Missense_G1368D,Missense_G1367D,Missense_G1214D 1:46500506-TG 1 46500506 [T/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_S1396A,Missense_S1389A,Missense_S1388A,Missense_S1235A 1:46500533-CT 1 46500533 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1405C,Missense_R1398C,Missense_R1397C,Missense_R1244C 1:46500602-AC 1 46500602 [A/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_K1428Q,Missense_K1421Q,Missense_K1420Q,Missense_K1267Q 1:46500728-GA 1 46500728 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_A1470T,Missense_A1463T,Missense_A1462T,Missense_A1309T exm55994 1 46500780 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_T1487I,Missense_T1480I,Missense_T1479I,Missense_T1326I exm56001 1 46500915 [G/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_P1532R,Missense_P1525R,Missense_P1524R,Missense_P1371R chr1_46500987 1 46500987 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_S1556F,Missense_S1549F,Missense_S1548F,Missense_S1395F exm56005 1 46500993 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_D1558G,Missense_D1551G,Missense_D1550G,Missense_D1397G 1:46501053-CA 1 46501053 [A/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_P1578H,Missense_P1571H,Missense_P1570H,Missense_P1417H 1:46501164-CT 1 46501164 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_T1615I,Missense_T1608I,Missense_T1607I,Missense_T1454I exm56016 1 46501359 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_K1680R,Missense_K1673R,Missense_K1672R,Missense_K1519R exm1817188 1 46501386 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_N1689S,Missense_N1682S,Missense_N1681S,Missense_N1528S chr1_46501416 1 46501416 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_A1699V,Missense_A1692V,Missense_A1691V,Missense_A1538V Variant37906 1 46501495 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Synonymous_Y1725Y,Synonymous_Y1718Y,Synonymous_Y1717Y,Synonymous_Y1564Y chr1_46501541 1 46501541 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_A1741T,Missense_A1734T,Missense_A1733T,Missense_A1580T exm56028 1 46501599 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1760K,Missense_R1753K,Missense_R1752K,Missense_R1599K 1:46501683-AG 1 46501683 [A/G] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_H1788R,Missense_H1781R,Missense_H1780R,Missense_H1627R exm56032 1 46501694 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_R1792W,Missense_R1785W,Missense_R1784W,Missense_R1631W chr1_46501704 1 46501704 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_A1795V,Missense_A1788V,Missense_A1787V,Missense_A1634V 1:46501713-CT 1 46501713 [T/C] NM_001324320,NM_015112,NM_001319245,NM_001324321 MAST2,MAST2,MAST2,MAST2 EXON Missense_P1798L,Missense_P1791L,Missense_P1790L,Missense_P1637L JHU_1.46502261 1 46502262 [T/C] JHU_1.46502481 1 46502482 [T/C] rs41302776 1 46506344 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.3204 1 46509377 [I/D] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON 1:46509395-CT 1 46509395 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_V387I,Missense_V402I,Missense_V446I,Missense_V402I,Missense_V402I,Silent,Missense_V446I,Missense_V365I,Missense_V290I,Missense_V492I,Missense_V463I,Missense_V389I,Missense_V402I exm56038 1 46509416 [G/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_Q380E,Missense_Q395E,Missense_Q439E,Missense_Q395E,Missense_Q395E,Silent,Missense_Q439E,Missense_Q358E,Missense_Q283E,Missense_Q485E,Missense_Q456E,Missense_Q382E,Missense_Q395E exm56039 1 46509469 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_L362P,Missense_L377P,Missense_L421P,Missense_L377P,Missense_L377P,Silent,Missense_L421P,Missense_L340P,Missense_L265P,Missense_L467P,Missense_L438P,Missense_L364P,Missense_L377P exm56045 1 46511617 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_K328R,Missense_K343R,Missense_K387R,Missense_K343R,Missense_K343R,Silent,Missense_K387R,Missense_K306R,Missense_K231R,Missense_K433R,Missense_K404R,Silent,Missense_K343R exm2233487 1 46511690 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_I304V,Missense_I319V,Missense_I363V,Missense_I319V,Missense_I319V,Silent,Missense_I363V,Missense_I282V,Missense_I207V,Missense_I409V,Missense_I380V,Silent,Missense_I319V exm56049 1 46511746 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_N285S,Missense_N300S,Missense_N344S,Missense_N300S,Missense_N300S,Silent,Missense_N344S,Missense_N263S,Missense_N188S,Missense_N390S,Missense_N361S,Silent,Missense_N300S 1:46512265-CT 1 46512265 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_R266H,Missense_R281H,Missense_R325H,Missense_R281H,Missense_R281H,Silent,Missense_R325H,Missense_R244H,Missense_R169H,Missense_R371H,Missense_R342H,Missense_R325H,Missense_R281H exm56054 1 46512266 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_R266C,Missense_R281C,Missense_R325C,Missense_R281C,Missense_R281C,Silent,Missense_R325C,Missense_R244C,Missense_R169C,Missense_R371C,Missense_R342C,Missense_R325C,Missense_R281C exm56055 1 46512289 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_N258S,Missense_N273S,Missense_N317S,Missense_N273S,Missense_N273S,Silent,Missense_N317S,Missense_N236S,Missense_N161S,Missense_N363S,Missense_N334S,Missense_N317S,Missense_N273S 1:46519369-G-T 1 46519369 [T/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:46519622-C-A 1 46519622 [A/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm56061 1 46521559 [T/A] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Silent,Missense_N239K,Missense_N283K,Missense_N239K,Missense_N239K,Silent,Missense_N283K,Missense_N202K,Missense_N127K,Missense_N329K,Missense_N300K,Missense_N283K,Missense_N239K 1:46527598-T-TA 1 46527598 [I/D] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 newrs191478062 1 46527601 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_R255Q,Missense_R211Q,Missense_R255Q,Missense_R211Q,Missense_R211Q,Silent,Missense_R255Q,Missense_R174Q,Missense_R99Q,Missense_R301Q,Missense_R272Q,Missense_R255Q,Missense_R211Q rs191478062 1 46527601 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_R255Q,Missense_R211Q,Missense_R255Q,Missense_R211Q,Missense_R211Q,Silent,Missense_R255Q,Missense_R174Q,Missense_R99Q,Missense_R301Q,Missense_R272Q,Missense_R255Q,Missense_R211Q exm56068 1 46527602 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Nonsense_R255X,Nonsense_R211X,Nonsense_R255X,Nonsense_R211X,Nonsense_R211X,Silent,Nonsense_R255X,Nonsense_R174X,Nonsense_R99X,Nonsense_R301X,Nonsense_R272X,Nonsense_R255X,Nonsense_R211X JHU_1.46528602 1 46528603 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs200819515 1 46532739 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_I113M,Missense_I69M,Missense_I113M,Missense_I69M,Missense_I69M,Silent,Missense_I113M,Missense_I32M,Silent,Missense_I159M,Missense_I130M,Missense_I113M,Missense_I69M rs147407681 1 46534654 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.3212 1 46543211 [I/D] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON rs1085243 1 46544768 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm56080 1 46546370 [G/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_M53I,Missense_M9I,Missense_M53I,Missense_M9I,Missense_M9I,Silent,Missense_M53I,Silent,Silent,Missense_M99I,Missense_M70I,Missense_M53I,Missense_M9I 1:46546377-TC 1 46546377 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_N51S,Missense_N7S,Missense_N51S,Missense_N7S,Missense_N7S,Silent,Missense_N51S,Silent,Silent,Missense_N97S,Missense_N68S,Missense_N51S,Missense_N7S exm56081 1 46546408 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_P41S,Silent,Missense_P41S,Silent,Silent,Silent,Missense_P41S,Silent,Silent,Missense_P87S,Missense_P58S,Missense_P41S,Silent JHU_1.46546851 1 46546852 [T/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1768802 1 46547868 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12143865 1 46548162 [T/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.46562661 1 46562662 [A/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs148533146 1 46588960 [A/C] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72677552 1 46591119 [A/G] NM_001303429,NM_001328650,NM_001114172,NM_001328651,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent chr1_46597614 1 46597614 [T/G] NM_001303429,NM_001114172,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Missense_T4K,Missense_T4K,Silent,Silent,Missense_T4K,Silent,Silent,Silent,Missense_T21K,Missense_T4K,Silent rs1707303 1 46598273 [A/C] NM_001303429,NM_001114172,NM_001328649,NR_137329,NM_003629,NM_001328653,NM_001328654,NM_001303427,NM_001303428,NM_001328652,NM_001328648 PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,PIK3R3,LOC110117498-PIK3R3,PIK3R3,PIK3R3,PIK3R3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1707302 1 46600917 [A/G] NM_001303427,NM_001328648,NR_125987 LOC110117498-PIK3R3,PIK3R3,LOC101929626 Silent,Silent,Silent rs1473840 1 46601197 [A/G] NM_001303427,NM_001328648,NR_125987 LOC110117498-PIK3R3,PIK3R3,LOC101929626 Silent,Silent,Silent rs72677556 1 46602294 [A/C] NM_001303427,NM_001328648,NR_125987 LOC110117498-PIK3R3,PIK3R3,LOC101929626 Silent,Silent,Silent JHU_1.46607251 1 46607252 [A/G] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent JHU_1.46608656 1 46608657 [A/G] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent rs1618281 1 46610456 [G/C] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent JHU_1.46613871 1 46613872 [T/C] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent rs7512966 1 46621740 [A/G] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent rs74227078 1 46629410 [A/G] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent rs3855959 1 46633874 [T/C] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent JHU_1.46635177 1 46635178 [A/G] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent rs12131635 1 46635895 [T/C] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent rs72677567 1 46636888 [T/C] NM_001303427,NM_001328648 LOC110117498-PIK3R3,PIK3R3 Silent,Silent 1:46641998-CT 1 46641998 [T/C] NM_001303427,NM_005727,NM_001328655 LOC110117498-PIK3R3,TSPAN1,LOC110117498 EXON Missense_R49Q,Silent,Missense_R49Q rs2234263 1 46646011 [T/G] NM_005727 TSPAN1 Silent exm56088 1 46646780 [A/G] NM_005727 TSPAN1 EXON Missense_M1V JHU_1.46647892 1 46647893 [A/G] NM_005727 TSPAN1 Silent rs74511574 1 46648995 [T/C] NM_005727 TSPAN1 Silent exm56090 1 46649918 [T/C] NM_005727 TSPAN1 EXON Missense_S38F exm56100 1 46650064 [A/G] NM_005727 TSPAN1 EXON Missense_V87M exm56102 1 46650270 [T/C] NM_005727 TSPAN1 EXON Missense_F90S chr1_46650273 1 46650273 [T/C] NM_005727 TSPAN1 EXON Missense_F91S 1:46650338-AG 1 46650338 [A/G] NM_005727 TSPAN1 EXON Missense_M113V 1:46650660-CT 1 46650660 [T/C] NM_005727 TSPAN1 EXON Missense_T156M exm56117 1 46650945 [A/G] NM_005727 TSPAN1 EXON Missense_V215M exm56119 1 46651169 [A/G] NM_005727 TSPAN1 EXON Missense_M230I 1:46654398-GA 1 46654398 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_A747V,Silent,Silent,Silent 1:46654440-GA 1 46654440 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_T733I,Silent,Silent,Silent 1:46654443-CT 1 46654443 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Nonsense_W732X,Silent,Silent,Silent 1:46654491-GA 1 46654491 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_A716V,Silent,Silent,Silent 1:46654547-CA 1 46654547 [A/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R697S,Silent,Silent,Silent 1:46654946-GA 1 46654946 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Synonymous_D651D,Missense_T660I,Missense_T517I,Missense_T638I ilmnseq_rs386834024 1 46655129 [A/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 Silent,Silent,Silent,Silent Variant48447 1 46655129 [A/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 Silent,Silent,Silent,Silent exm56139 1 46655130 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Silent,Missense_S632L,Missense_S489L,Missense_S610L rs386834022 1 46655149 [D/I] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Variant15905 1 46655149 [D/I] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON exm56140 1 46655158 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_M623V,Missense_M623V,Missense_M480V,Missense_M601V 1:46655211-G-C 1 46655211 [C/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R605P,Missense_R605P,Missense_R462P,Missense_R583P rs386834019 1 46655542 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Nonsense_W590X,Nonsense_W590X,Nonsense_W447X,Nonsense_W568X exm56149 1 46655585 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_V576M,Missense_V576M,Missense_V433M,Missense_V554M 1:46655624-CA 1 46655624 [A/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Nonsense_E563X,Nonsense_E563X,Nonsense_E420X,Nonsense_E541X exm56153 1 46655645 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_D556N,Missense_D556N,Missense_D413N,Missense_D534N rs74374973 1 46655645 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_D556N,Missense_D556N,Missense_D413N,Missense_D534N rs193919335 1 46656145 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_S550N,Missense_S550N,Missense_S407N,Missense_S528N exm56170 1 46657769 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 Silent,Silent,Silent,Silent rs138642840 1 46657769 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 Silent,Silent,Silent,Silent variant.3218 1 46657770 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Synonymous_H513H,Synonymous_H513H,Synonymous_H370H,Synonymous_H491H exm56174 1 46657799 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_V504I,Missense_V504I,Missense_V361I,Missense_V482I rs17102066 1 46657799 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_V504I,Missense_V504I,Missense_V361I,Missense_V482I seq-rs727502852 1 46657807 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_F501S,Missense_F501S,Missense_F358S,Missense_F479S rs267606960 1 46657840 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_C490Y,Missense_C490Y,Missense_C347Y,Missense_C468Y chr1_46657855 1 46657855 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R485H,Missense_R485H,Missense_R342H,Missense_R463H variant.3220 1 46657890 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Nonsense_W473X,Nonsense_W473X,Nonsense_W330X,Nonsense_W451X rs386834014 1 46658051 [G/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_G448R,Missense_G448R,Missense_G305R,Missense_G426R 1:46658068-CT 1 46658068 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R442H,Missense_R442H,Missense_R299H,Missense_R420H rs28940869 1 46658069 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R442C,Missense_R442C,Missense_R299C,Missense_R420C rs146097254 1 46658095 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_T433M,Missense_T433M,Missense_T290M,Missense_T411M exm56184 1 46658095 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_T433M,Missense_T433M,Missense_T290M,Missense_T411M rs386834012 1 46658110 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 Silent,Silent,Silent,Silent rs386834011 1 46658200 [G/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_W425S,Missense_W425S,Missense_W282S,Missense_W403S rs2292485 1 46658343 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 Silent,Silent,Silent,Silent rs2292486 1 46658910 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 Silent,Silent,Silent,Silent indel.3225 1 46659250 [I/D] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON exm2251888 1 46659302 [C/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Synonymous_R320R,Synonymous_R320R,Synonymous_R177R,Synonymous_R298R rs193919336 1 46659545 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R311Q,Missense_R311Q,Missense_R168Q,Missense_R289Q rs386834039 1 46659546 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Nonsense_R311X,Nonsense_R311X,Nonsense_R168X,Nonsense_R289X 1:46659588-TC 1 46659588 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_N297D,Missense_N297D,Missense_N154D,Missense_N275D rs200863680 1 46659965 [A/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_I287S,Missense_I287S,Missense_I144S,Missense_I265S exm56217 1 46659986 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_S280N,Missense_S280N,Missense_S137N,Missense_S258N rs200363064 1 46660029 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R266W,Missense_R266W,Missense_R123W,Missense_R244W 1:46660029-GA 1 46660029 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R266W,Missense_R266W,Missense_R123W,Missense_R244W rs386834010 1 46660031 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R265H,Missense_R265H,Missense_R122H,Missense_R243H Variant48454 1 46660031 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R265H,Missense_R265H,Missense_R122H,Missense_R243H exm56222 1 46660037 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R263H,Missense_R263H,Missense_R120H,Missense_R241H 1:46660278-GA 1 46660278 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_S233F,Missense_S233F,Missense_S90F,Missense_S211F 1:46660295-TC 1 46660295 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Synonymous_K227K,Synonymous_K227K,Synonymous_K84K,Synonymous_K205K rs147938876 1 46660299 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_S226F,Missense_S226F,Missense_S83F,Missense_S204F rs386834034 1 46660525 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Nonsense_R215X,Nonsense_R215X,Nonsense_R72X,Nonsense_R193X Variant48455 1 46660532 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Synonymous_F212F,Synonymous_F212F,Synonymous_F69F,Synonymous_F190F 1:46660606-TC 1 46660606 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_T188A,Missense_T188A,Missense_T45A,Missense_T166A 1:46661514-GA 1 46661514 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_A168V,Missense_A168V,Missense_A25V,Missense_A146V Variant37908 1 46661564 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Synonymous_T151T,Synonymous_T151T,Synonymous_T8T,Synonymous_T129T rs189274856 1 46661603 [T/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 Silent,Silent,Silent,Silent exm1817598 1 46661684 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Synonymous_T140T,Synonymous_T140T,Silent,Synonymous_T118T 1:46661719-GA 1 46661719 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R129W,Missense_R129W,Silent,Missense_R107W exm56246 1 46661749 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_V119M,Missense_V119M,Silent,Missense_V97M rs76693406 1 46661776 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 Silent,Silent,Silent,Silent Variant48456 1 46662405 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_T118A,Missense_T118A,Silent,Missense_T96A Variant15906 1 46662406 [D/I] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON rs150576537 1 46662456 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_V101I,Missense_V101I,Silent,Missense_V79I exm56251 1 46662456 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_V101I,Missense_V101I,Silent,Missense_V79I exm56256 1 46662488 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R90H,Missense_R90H,Silent,Missense_R68H exm56258 1 46662491 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_R89Q,Missense_R89Q,Silent,Missense_R67Q exm56263 1 46662669 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Missense_E70K,Missense_E70K,Silent,Missense_E48K variant.3231 1 46662690 [A/G] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Nonsense_R63X,Nonsense_R63X,Silent,Nonsense_R41X 1:46663033-TC 1 46663033 [T/C] NM_001243766,NM_017739,NM_001290130,NM_001290129 POMGNT1,POMGNT1,POMGNT1,POMGNT1 EXON Silent,Silent,Silent,Missense_M1V rs12737140 1 46663361 [A/G] NM_001243766,NM_017739 POMGNT1,POMGNT1 Silent,Silent 1:46663486-TC 1 46663486 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_D3G,Missense_D3G exm56272 1 46663487 [A/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_D3Y,Missense_D3Y 1:46669193-GA 1 46669193 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_R32Q exm56276 1 46669222 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_A42T 1:46669225-CA 1 46669225 [A/C] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_L43M 1:46669249-AG 1 46669249 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_T51A exm56278 1 46669276 [A/C] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_M60L rs12141928 1 46677918 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 Silent,Silent rs12126187 1 46680110 [A/C] NM_001243766,NM_001013615 POMGNT1,LURAP1 Silent,Silent rs13374117 1 46685014 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 Silent,Silent 1:46685405-AG 1 46685405 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_Q78R exm56282 1 46685443 [T/C] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_R91C chr1_46685537 1 46685537 [A/C] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Nonsense_S122X exm56287 1 46685581 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_D137N 1:46685632-AG 1 46685632 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_S154G exm56293 1 46685635 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 EXON Silent,Missense_E155K rs1355643 1 46687861 [T/C] rs12406217 1 46690290 [T/C] rs12028248 1 46690331 [C/G] rs140231037 1 46705909 [T/C] JHU_1.46713477 1 46713478 [T/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Silent,Silent exm56311 1 46714242 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_D21G,Missense_D21G JHU_1.46716322 1 46716323 [T/G] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent rs28363201 1 46718982 [T/G] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent JHU_1.46719014 1 46719015 [T/G] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent rs111685152 1 46720123 [T/G] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent rs11211262 1 46721155 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent rs17102086 1 46722939 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent exm56317 1 46724370 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R75X,Nonsense_R75X newrs34761954 1 46725650 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R96X,Nonsense_R96X 1:46725697-CA 1 46725697 [A/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_D111E,Missense_D111E 1:46726266-CT 1 46726266 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R154W,Missense_R154W rs188588420 1 46726501 [A/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_I194L,Missense_I194L rs28363218 1 46726525 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R202C,Missense_R202C chr1_46726526 1 46726526 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R202H,Missense_R202H JHU_1.46726875 1 46726876 [T/G] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent exm56349 1 46726931 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent exm56351 1 46726951 [T/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R262L,Missense_R262L exm56352 1 46726962 [G/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_V266L,Missense_V266L JHU_1.46727303 1 46727304 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent rs4660918 1 46731694 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent seq-rs797044888 1 46733272 [T/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_G345C,Missense_G345C rs12125573 1 46734792 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent exm56363 1 46736339 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_H351Y,Missense_H351Y variant.3239 1 46736381 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R365X,Nonsense_R365X Variant37909 1 46736386 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Synonymous_D366D,Synonymous_D366D 1:46736427-GA 1 46736427 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R380Q,Missense_R380Q 1:46736454-AG 1 46736454 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_N389S,Missense_N389S 1:46738191-TC 1 46738191 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_I408T,Missense_I408T 1:46739111-CT 1 46739111 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_S487F,Missense_S487F exm56377 1 46739296 [G/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_G496A,Missense_G496A chr1_46739301 1 46739301 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_M498V,Missense_M498V 1:46739329-TC 1 46739329 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_V507A,Missense_V507A variant.3241 1 46739334 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R509X,Nonsense_R509X rs28363240 1 46739409 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R534C,Missense_R534C exm56380 1 46739409 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R534C,Missense_R534C variant.3242 1 46739415 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R536X,Nonsense_R536X exm56382 1 46739416 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R536Q,Missense_R536Q 1:46739823-CT 1 46739823 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R542C,Missense_R542C rs116868869 1 46740005 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent rs28363243 1 46740268 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_I583T,Missense_I583T 1:46740268-TC 1 46740268 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_I583T,Missense_I583T exm56395 1 46740279 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R587W,Missense_R587W newrs138693255 1 46740345 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R609X,Nonsense_R609X exm56407 1 46743589 [C/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_S657C,Missense_S657C exm56412 1 46743782 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R691Q,Missense_R691Q 1:46743791-CCT-C 1 46743791 [I/D] NM_003579,NM_001142548 RAD54L,RAD54L EXON exm56414 1 46743839 [G/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_T710S,Missense_T710S rs1048771 1 46743900 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Synonymous_A730A,Synonymous_A730A exm56417 1 46743923 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R738H,Missense_R738H 1:46743949-CT 1 46743949 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R747C,Missense_R747C exm56429 1 46744712 [T/C] NM_006369 LRRC41 EXON Missense_R755Q exm56443 1 46746164 [T/C] NM_006369 LRRC41 EXON Missense_V609I exm56444 1 46746196 [T/C] NM_006369 LRRC41 EXON Missense_R598Q exm56448 1 46746857 [A/G] NM_006369 LRRC41 EXON Missense_P566S 1:46746919-CT 1 46746919 [T/C] NM_006369 LRRC41 EXON Missense_R545Q exm56451 1 46746931 [T/C] NM_006369 LRRC41 EXON Missense_R541H 1:46746991-CT 1 46746991 [T/C] NM_006369 LRRC41 EXON Missense_R521H rs12142240 1 46747301 [T/C] NM_006369 LRRC41 Silent 1:46750941-CT 1 46750941 [T/C] NM_006369 LRRC41 Silent rs201110440 1 46751141 [A/G] NM_006369 LRRC41 EXON Missense_S463F 1:46751219-CA 1 46751219 [A/C] NM_006369 LRRC41 EXON Missense_C437F exm56467 1 46751316 [A/C] NM_006369 LRRC41 EXON Missense_G405W exm56469 1 46751333 [T/C] NM_006369 LRRC41 EXON Missense_G399D exm56471 1 46751448 [A/G] NM_006369 LRRC41 EXON Missense_P361S exm56476 1 46751556 [A/G] NM_006369 LRRC41 EXON Missense_R325W exm56482 1 46751588 [A/G] NM_006369 LRRC41 EXON Missense_P314L 1:46751663-GA 1 46751663 [A/G] NM_006369 LRRC41 EXON Missense_P289L JHU_1.46752486 1 46752487 [T/C] NM_006369 LRRC41 Silent rs149038978 1 46755098 [A/G] NM_006369 LRRC41 Silent rs6676038 1 46761389 [A/G] NM_006369 LRRC41 Silent rs55906839 1 46761517 [A/G] NM_006369 LRRC41 Silent exm56507 1 46763957 [T/C] NM_006369 LRRC41 EXON Synonymous_K95K JHU_1.46767175 1 46767176 [A/G] NM_006369 LRRC41 Silent 1:46768912-CA 1 46768912 [A/C] NM_006369 LRRC41 EXON Missense_R28L 1:46768966-CT 1 46768966 [T/C] NM_006369 LRRC41 EXON Missense_R10Q rs184327209 1 46768970 [A/C] NM_006369 LRRC41 EXON Missense_A9S exm2233496 1 46768970 [A/C] NM_006369 LRRC41 EXON Missense_A9S 1:46769472-GA 1 46769472 [A/G] NM_001297566,NM_001297565,NM_006004 UQCRH,UQCRH,UQCRH EXON Missense_E12K,Silent,Missense_E12K JHU_1.46769863 1 46769864 [T/C] NM_001297566,NM_001297565,NM_006004 UQCRH,UQCRH,UQCRH Silent,Silent,Silent exm56515 1 46774783 [A/G] NM_001297566,NM_001297565,NM_006004 UQCRH,UQCRH,UQCRH EXON Silent,Silent,Missense_E22G rs41292543 1 46774783 [A/G] NM_001297566,NM_001297565,NM_006004 UQCRH,UQCRH,UQCRH EXON Silent,Silent,Missense_E22G rs144503839 1 46775820 [A/C] NM_001297566,NM_001297565,NM_006004 UQCRH,UQCRH,UQCRH Silent,Silent,Silent rs181971906 1 46775975 [A/C] NM_001297566,NM_001297565,NM_006004 UQCRH,UQCRH,UQCRH EXON Missense_A68E,Missense_A71E,Missense_A77E 1:46775975-CA 1 46775975 [A/C] NM_001297566,NM_001297565,NM_006004 UQCRH,UQCRH,UQCRH EXON Missense_A68E,Missense_A71E,Missense_A77E JHU_1.46776761 1 46776762 [T/A] NM_001297566,NM_001297565,NM_006004 UQCRH,UQCRH,UQCRH Silent,Silent,Silent JHU_1.46796898 1 46796899 [T/C] JHU_1.46800632 1 46800633 [A/G] JHU_1.46801600 1 46801601 [A/G] 1:46806550-CT 1 46806550 [T/C] NR_045789,NR_045790,NM_199044,NR_045791 NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_L18F,Silent rs12563610 1 46808042 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 Silent,Silent,Silent,Silent,Silent,Silent rs7515284 1 46809419 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 Silent,Silent,Silent,Silent,Silent,Silent exm56547 1 46810530 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_T51A,Silent,Missense_T2A,Missense_T2A indel.3250 1 46810533 [I/D] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON indel.3251 1 46810586 [I/D] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON exm56553 1 46810763 [A/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_N128K,Silent,Missense_N79K,Missense_N79K exm56556 1 46810797 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_S140G,Silent,Missense_S91G,Missense_S91G exm56557 1 46810815 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_R146G,Silent,Missense_R97G,Missense_R97G exm56565 1 46812747 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_R198C,Silent,Missense_R149C,Missense_R149C JHU_1.46813542 1 46813543 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 Silent,Silent,Silent,Silent,Silent,Silent 1:46813967-C-T 1 46813967 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 Silent,Silent,Silent,Silent,Silent,Silent rs111353779 1 46814029 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.46815835 1 46815836 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 Silent,Silent,Silent,Silent,Silent,Silent rs41294480 1 46818502 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 Silent,Silent,Silent,Silent,Silent,Silent variant.3255 1 46818572 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Nonsense_R209X,Silent,Nonsense_R160X,Nonsense_R160X exm56576 1 46818641 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Nonsense_R232X,Silent,Nonsense_R183X,Nonsense_R183X exm56578 1 46826407 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_R262H,Silent,Missense_R213H,Missense_R213H 1:46826446-GA 1 46826446 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_R275Q,Silent,Missense_R226Q,Missense_R226Q exm56581 1 46826463 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Nonsense_R281X,Silent,Nonsense_R232X,Nonsense_R232X indel.3258 1 46826474 [D/I] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON variant.3259 1 46826500 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_A293V,Silent,Missense_A244V,Missense_A244V exm56583 1 46826501 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 Silent,Silent,Silent,Silent,Silent,Silent exm2233497 1 46827249 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_L296F,Silent,Missense_L247F,Missense_L247F exm56587 1 46827274 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_H304R,Silent,Missense_H255R,Missense_H255R variant.3261 1 46827309 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Nonsense_Q316X,Silent,Nonsense_Q267X,Nonsense_Q267X exm56589 1 46827337 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_I325T,Silent,Missense_I276T,Missense_I276T newrs189515964 1 46827396 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Nonsense_R345X,Silent,Nonsense_R296X,Nonsense_R296X Variant37912 1 46827416 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Synonymous_T351T,Silent,Synonymous_T302T,Synonymous_T302T exm56596 1 46827456 [A/G] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Missense_I365V,Silent,Missense_I316V,Missense_I316V indel.3263 1 46827476 [I/D] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON rs1053624 1 46827485 [T/C] NR_045789,NR_045790,NM_199044,NR_045791,NM_001256127,NM_001256128 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Synonymous_P374P,Silent,Synonymous_P325P,Synonymous_P325P JHU_1.46832914 1 46832915 [T/C] JHU_1.46833438 1 46833439 [T/C] rs61784612 1 46834148 [A/G] JHU_1.46834537 1 46834538 [T/A] rs59239321 1 46838362 [A/G] JHU_1.46847821 1 46847822 [A/C] JHU_1.46849123 1 46849124 [T/G] rs932816 1 46859749 [A/G] 1:46860063-GT 1 46860063 [T/G] NM_001441 FAAH EXON Missense_G15W 1:46862332-C-G 1 46862332 [C/G] NM_001441 FAAH Silent JHU_1.46864726 1 46864727 [A/G] NM_001441 FAAH Silent rs4141964 1 46865040 [T/C] NM_001441 FAAH Silent rs3766246 1 46865671 [A/G] NM_001441 FAAH Silent rs45564237 1 46867007 [T/C] NM_001441 FAAH Silent 1:46867763-AG 1 46867763 [A/G] NM_001441 FAAH EXON Missense_N66D 1:46870704-GA 1 46870704 [A/G] NM_001441 FAAH EXON Missense_G110R exm56616 1 46870705 [A/G] NM_001441 FAAH EXON Missense_G110E 1:46870731-GA 1 46870731 [A/G] NM_001441 FAAH EXON Missense_A119T exm56619 1 46870761 [A/C] NM_001441 FAAH EXON Missense_P129T rs324420 1 46870761 [A/C] NM_001441 FAAH EXON Missense_P129T 1:46871119-CA 1 46871119 [A/C] NM_001441 FAAH EXON Missense_L174M rs114795065 1 46871409 [A/G] NM_001441 FAAH EXON Missense_R243H exm56636 1 46871409 [A/G] NM_001441 FAAH EXON Missense_R243H exm56643 1 46871973 [A/G] NM_001441 FAAH EXON Missense_R295Q rs324419 1 46871986 [T/C] NM_001441 FAAH EXON Synonymous_C299C 1:46872033-GT 1 46872033 [T/G] NM_001441 FAAH EXON Missense_R315I rs45586133 1 46873039 [A/G] NM_001441 FAAH Silent exm56654 1 46874215 [A/G] NM_001441 FAAH EXON Missense_V346M rs77101686 1 46874246 [T/C] NM_001441 FAAH EXON Missense_A356V exm56655 1 46874246 [T/C] NM_001441 FAAH EXON Missense_A356V rs45497198 1 46874279 [A/G] NM_001441 FAAH Silent rs2295633 1 46874383 [A/G] NM_001441 FAAH Silent rs11576941 1 46875067 [T/G] NM_001441 FAAH Silent exm56672 1 46877284 [T/G] NM_001441 FAAH EXON Synonymous_R439R 1:46877820-CA 1 46877820 [A/C] NM_001441 FAAH EXON Nonsense_Y454X 1:46877821-CA 1 46877821 [A/C] NM_001441 FAAH EXON Missense_R455S 1:46877866-GT 1 46877866 [T/G] NM_001441 FAAH EXON Missense_V470L 1:46878813-CT 1 46878813 [T/C] NM_001441 FAAH EXON Missense_T511M 1:46879194-CT 1 46879194 [T/C] NM_001441 FAAH EXON Missense_R563W rs6699322 1 46882118 [A/G] JHU_1.46884314 1 46884315 [T/C] rs324423 1 46885104 [A/G] rs4660928 1 46885940 [A/C] rs71638008 1 46887090 [T/C] rs72892711 1 46895426 [G/C] JHU_1.46898062 1 46898063 [A/C] JHU_1.46898337 1 46898338 [A/G] JHU_1.46898803 1 46898804 [T/G] JHU_1.46899197 1 46899198 [T/G] JHU_1.46899481 1 46899482 [A/G] JHU_1.46899656 1 46899657 [T/C] NR_045483 FAAHP1 Silent JHU_1.46899911 1 46899912 [T/G] NR_045483 FAAHP1 Silent rs61784648 1 46900652 [T/C] NR_045483 FAAHP1 Silent JHU_1.46900756 1 46900757 [A/G] NR_045483 FAAHP1 Silent rs3737742 1 46901047 [A/G] NR_045483 FAAHP1 Silent rs55942980 1 46903394 [A/G] NR_045483 FAAHP1 Silent JHU_1.46904478 1 46904479 [A/G] NR_045483 FAAHP1 Silent rs11211276 1 46905802 [T/G] NR_045483 FAAHP1 Silent rs146043005 1 46910886 [A/G] NR_045483 FAAHP1 EXON Silent rs147304087 1 46917066 [T/A] rs4660930 1 46919954 [A/G] rs2031248 1 46923102 [T/C] rs10890398 1 46925594 [T/C] rs142599015 1 46926900 [C/G] rs11211282 1 46928349 [A/G] rs76108244 1 46931854 [A/G] rs140473607 1 46932276 [A/G] JHU_1.46932466 1 46932467 [T/C] JHU_1.46934172 1 46934173 [T/G] JHU_1.46934202 1 46934203 [T/A] rs1886119 1 46936077 [A/G] rs72679828 1 46936973 [A/T] JHU_1.46938013 1 46938014 [T/C] rs12408134 1 46938593 [A/G] rs2031247 1 46938837 [T/C] exm2268681 1 46944805 [T/C] rs4660351 1 46947097 [A/G] rs117146007 1 46948027 [A/G] rs60736242 1 46948751 [C/G] rs112699995 1 46952190 [T/C] rs12023099 1 46953391 [T/C] JHU_1.46953940 1 46953941 [T/C] rs77599424 1 46954093 [T/C] rs942254 1 46954263 [T/C] rs2404583 1 46954554 [T/C] 1:46955777-G-A 1 46955777 [A/G] rs942252 1 46956235 [A/G] rs116125886 1 46959799 [A/C] rs11211294 1 46964305 [A/G] rs2025384 1 46967890 [A/G] JHU_1.46968041 1 46968042 [T/C] rs200210218 1 46972717 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_H12R,Missense_H12R 1:46972722-AG 1 46972722 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_M14V,Missense_M14V chr1_46972750 1 46972750 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_L23P,Missense_L23P 1:46972788-GA 1 46972788 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_D36N,Missense_D36N rs370467969 1 46975086 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 Silent,Silent rs6683116 1 46975773 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 Silent,Silent exm56710 1 46976131 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 Silent,Silent 1:46976184-GA 1 46976184 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_R64H,Missense_R69H rs145881278 1 46976523 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 Silent,Silent 1:46976638-GA 1 46976638 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_R122Q,Missense_R127Q 1:46976830-CT 1 46976830 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_S186L,Missense_S191L 1:46976847-CT 1 46976847 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_P192S,Missense_P197S exm56733 1 46976865 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_P198S,Missense_P203S exm56734 1 46976871 [G/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_A200P,Missense_A205P exm56740 1 46977775 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_S248F,Missense_S253F exm56751 1 46977876 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_E282K,Missense_E287K rs142474862 1 46977876 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_E282K,Missense_E287K exm56752 1 46977885 [T/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_G285C,Missense_G290C exm56757 1 46977907 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_A292V,Missense_A297V exm56760 1 46977936 [A/G] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_V302I,Missense_V307I exm56769 1 46978132 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Missense_A367V,Missense_A372V rs2209172 1 46978497 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Silent,Silent rs4660355 1 46979222 [T/C] NM_172225,NM_147192 DMBX1,DMBX1 EXON Silent,Silent rs6429601 1 46981536 [A/C] JHU_1.46981701 1 46981702 [C/G] JHU_1.46982308 1 46982309 [T/C] rs7519040 1 46986641 [A/G] rs61783084 1 46987421 [A/C] rs1267308 1 46987718 [A/G] rs7525300 1 46988375 [A/C] rs17102247 1 46989472 [C/G] rs1267305 1 46989742 [T/C] JHU_1.46991889 1 46991890 [T/C] rs17101257 1 46994136 [A/G] rs115830566 1 46994349 [T/G] JHU_1.46994979 1 46994980 [A/G] rs6429602 1 46995113 [T/C] rs12120456 1 46995303 [T/C] rs7542296 1 46998009 [T/C] 1:46999258-G-C 1 46999258 [G/C] NM_001357063 LOC105378696 EXON Silent rs3737741 1 47000566 [T/C] NM_001357063 LOC105378696 Silent rs2404610 1 47001857 [T/C] JHU_1.47002410 1 47002411 [T/C] rs1317949 1 47005429 [T/C] NR_038403 MKNK1-AS1 Silent rs2486164 1 47006657 [T/C] NR_038403 MKNK1-AS1 EXON Silent rs12066517 1 47008251 [C/G] NR_038403 MKNK1-AS1 Silent JHU_1.47008986 1 47008987 [T/C] NR_038403 MKNK1-AS1 Silent rs1258033 1 47010027 [A/G] NR_038403 MKNK1-AS1 Silent JHU_1.47011371 1 47011372 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Silent,Silent rs885125 1 47011762 [A/G] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Silent,Silent rs885126 1 47011872 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Silent,Silent rs885127 1 47012144 [A/G] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Silent,Silent 1:47013034-CT 1 47013034 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Silent,Silent 1:47013180-AG 1 47013180 [A/G] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Silent,Silent 1:47013236-CT 1 47013236 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Silent,Silent 1:47013303-CT 1 47013303 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Silent,Silent exm56794 1 47013404 [A/G] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_X125R,Missense_X102R exm2273649 1 47013413 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_E122K,Missense_E99K exm56797 1 47013431 [A/G] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_P116S,Missense_P93S 1:47014879-TC 1 47014879 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_N94S,Missense_N71S 1:47015611-GA 1 47015611 [A/G] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_T72I,Silent exm56807 1 47016761 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_V43I,Missense_V43I exm56808 1 47016791 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_V33I,Missense_V33I exm56809 1 47016800 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_G30S,Missense_G30S chr1_47016842 1 47016842 [T/C] NR_038403,NM_001322255,NM_001097611 MKNK1-AS1,KNCN,KNCN EXON Silent,Missense_A16T,Missense_A16T JHU_1.47018446 1 47018447 [T/C] NR_038403 MKNK1-AS1 Silent rs116878595 1 47020507 [T/C] NR_038403 MKNK1-AS1 Silent JHU_1.47021106 1 47021107 [A/G] NR_038403 MKNK1-AS1 Silent exm56819 1 47024308 [T/C] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Silent,Missense_R393Q,Silent,Missense_R434Q,Silent exm56826 1 47024442 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_R334C,Synonymous_F348F,Silent,Synonymous_F389F,Silent exm56828 1 47024454 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_P330S,Synonymous_D344D,Silent,Synonymous_D385D,Silent JHU_1.47026361 1 47026362 [T/A] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs142862589 1 47026362 [T/A] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:47028374-GA 1 47028374 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_H251Y,Missense_H251Y,Silent,Missense_H292Y,Silent JHU_1.47029737 1 47029738 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs80040611 1 47030022 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.3275 1 47030708 [T/C] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm56843 1 47030774 [T/C] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_G183D,Missense_G183D,Silent,Missense_G224D,Silent exm2265005 1 47031340 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7543083 1 47031340 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm56844 1 47034125 [A/G] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_S168F,Missense_S168F,Silent,Missense_S209F,Silent rs141045771 1 47034786 [T/C] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1054743 1 47035643 [T/C] NR_038403,NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent chr1_47037157 1 47037157 [A/G] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Silent,Silent,Missense_T171I,Silent exm56865 1 47042283 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_R81Q,Missense_R81Q,Silent,Missense_R81Q,Silent 1:47042321-GA 1 47042321 [A/G] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Synonymous_I68I,Synonymous_I68I,Silent,Synonymous_I68I,Silent rs11211305 1 47044238 [A/G] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent 1:47046166-GT 1 47046166 [T/G] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent 1:47046237-CT 1 47046237 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_V55M,Missense_V55M,Silent,Missense_V55M,Silent exm1818502 1 47046255 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_A49T,Missense_A49T,Silent,Missense_A49T,Silent exm56869 1 47046266 [T/G] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_E45A,Missense_E45A,Silent,Missense_E45A,Silent var_1_47046300 1 47046300 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent 1:47048928-GA 1 47048928 [A/G] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Synonymous_A24A,Synonymous_A24A,Silent,Synonymous_A24A,Silent exm56874 1 47048933 [A/G] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_R23W,Missense_R23W,Silent,Missense_R23W,Silent 1KG_1_47048942 1 47048942 [I/D] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON indel.3278 1 47051602 [I/D] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON rs3766231 1 47056347 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent 1:47059934-TC 1 47059934 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Silent,Silent,Silent,Silent Variant37914 1 47060538 [A/G] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent rs17414800 1 47065344 [A/G] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent rs114091496 1 47065359 [A/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent rs34806553 1 47065426 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47068194 1 47068195 [A/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent rs12022855 1 47068584 [T/C] NR_024174,NM_198973,NM_001135553,NR_146512,NM_003684,NR_024176 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47074461 1 47074462 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Silent,Silent exm56885 1 47075329 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Missense_X217R,Missense_X269R exm56897 1 47075769 [T/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Missense_M176V,Missense_M228V variant.3281 1 47075817 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Nonsense_R160X,Nonsense_R212X rs148619581 1 47076927 [A/T] NM_201403,NM_145279 MOB3C,MOB3C Silent,Silent 1:47078758-GA 1 47078758 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Missense_A79V,Missense_A131V exm56910 1 47078762 [T/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Missense_M78V,Missense_M130V exm56915 1 47078903 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Missense_Y31H,Missense_Y83H exm56918 1 47078966 [G/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Missense_A10P,Missense_A62P rs1767598 1 47080307 [T/C] NM_201403,NM_145279 MOB3C,MOB3C Silent,Silent exm56922 1 47080665 [T/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Silent,Missense_M28I exm56923 1 47080678 [T/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Silent,Missense_R24Q exm56924 1 47080679 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Silent,Nonsense_R24X rs6671527 1 47080679 [A/G] NM_201403,NM_145279 MOB3C,MOB3C EXON Silent,Nonsense_R24X exm56927 1 47080741 [T/C] NM_201403,NM_145279 MOB3C,MOB3C EXON Silent,Missense_R3H rs80159866 1 47081119 [C/G] NM_201403 MOB3C Silent JHU_1.47082211 1 47082212 [T/G] NM_201403 MOB3C Silent JHU_1.47084862 1 47084863 [T/C] rs11211329 1 47084864 [A/G] JHU_1.47084974 1 47084975 [T/C] rs116508121 1 47086916 [T/C] rs6669160 1 47087968 [A/G] JHU_1.47092535 1 47092536 [T/G] JHU_1.47094222 1 47094223 [G/C] rs116289654 1 47095306 [T/C] rs79104666 1 47096111 [T/G] rs6696389 1 47098108 [A/G] rs11541308 1 47098823 [T/C] JHU_1.47099097 1 47099098 [A/C] rs723333 1 47099346 [A/C] exm56932 1 47101519 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Missense_V329I,Missense_V218I,Missense_V261I,Missense_V155I newrs149829714 1 47101568 [A/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Synonymous_G312G,Synonymous_G201G,Synonymous_G244G,Synonymous_G138G 1:47101618-CT 1 47101618 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Missense_A296T,Missense_A185T,Missense_A228T,Missense_A122T rs1258061 1 47105000 [A/G] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent rs77346672 1 47108132 [A/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent variant.3286 1 47108970 [A/G] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Nonsense_R253X,Nonsense_R142X,Silent,Nonsense_R79X newrs140170988 1 47110833 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Synonymous_Q251Q,Synonymous_Q140Q,Silent,Synonymous_Q77Q exm56947 1 47110834 [T/A] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Missense_Q251L,Missense_Q140L,Silent,Missense_Q77L JHU_1.47115050 1 47115051 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent rs631368 1 47121502 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent JHU_1.47122532 1 47122533 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent chr1_47123836 1 47123836 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Missense_E174G,Missense_E63G,Missense_E174G,Silent JHU_1.47126390 1 47126391 [A/G] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent JHU_1.47127568 1 47127569 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent rs2218190 1 47130594 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent 1:47130949-AT 1 47130949 [T/A] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Missense_F141L,Missense_F30L,Missense_F141L,Silent 1:47130991-TC 1 47130991 [T/C] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Synonymous_E127E,Synonymous_E16E,Synonymous_E127E,Silent rs149212710 1 47131107 [T/G] NM_022745,NM_001243728,NM_001042546,NM_001256418 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent JHU_1.47132445 1 47132446 [A/G] NM_022745,NM_001042546 ATPAF1,ATPAF1 Silent,Silent JHU_1.47135954 1 47135955 [T/C] exm56982 1 47138720 [T/G] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_K71N,Silent,Missense_K17N exm56983 1 47138819 [T/G] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_D104E,Missense_D28E,Missense_D50E rs614486 1 47138819 [T/G] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_D104E,Missense_D28E,Missense_D50E 1:47138935-CT 1 47138935 [T/C] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_S143F,Missense_S67F,Missense_S89F exm56988 1 47139039 [T/C] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_P178S,Missense_P102S,Missense_P124S exm56992 1 47139103 [T/C] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_A199V,Missense_A123V,Missense_A145V rs1025806 1 47139103 [T/C] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_A199V,Missense_A123V,Missense_A145V exm56994 1 47139117 [A/T] NM_001145474,NM_001300864,NM_001300863 TEX38,TEX38,TEX38 EXON Missense_S204T,Missense_S128T,Missense_S150T 1:47139580-C-G 1 47139580 [C/G] rs669647 1 47142475 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Silent rs1048380 1 47142538 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Silent 1:47144200-CT 1 47144200 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_R474K 1:47144273-CT 1 47144273 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_V450M 1:47144290-CT 1 47144290 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_R444H 1:47144310-TC 1 47144310 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent JHU_1.47144857 1 47144858 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent JHU_1.47148686 1 47148687 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent 1:47148975-CT 1 47148975 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_E437K newrs149160356 1 47149049 [T/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Nonsense_S412X exm57007 1 47149056 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_K410E exm1818768 1 47150183 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_P389L 1:47150199-GGTTT-G 1 47150199 [I/D] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON variant.3291 1 47150276 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent rs4660954 1 47150609 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent newrs78161481 1 47152440 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent exm57018 1 47152520 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_L337P exm57022 1 47154131 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_G294E exm57025 1 47154168 [A/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_V282L exm57029 1 47155291 [G/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_D255H variant.3293 1 47157497 [A/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent exm57035 1 47157570 [T/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_L207I 1:47157576-CT 1 47157576 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_V205I 1:47162248-GA 1 47162248 [A/G] NM_014774 EFCAB14 EXON Missense_P185L JHU_1.47168781 1 47168782 [A/G] NM_014774 EFCAB14 Silent rs2083486 1 47169210 [T/C] NM_014774 EFCAB14 Silent exm2233504 1 47173604 [T/C] NM_014774 EFCAB14 EXON Missense_I152V rs10789491 1 47179310 [A/G] NM_014774 EFCAB14 Silent exm57044 1 47182101 [T/C] NM_014774 EFCAB14 EXON Missense_R67Q variant.3297 1 47183618 [A/C] NM_014774 EFCAB14 EXON Nonsense_E48X 1:47183626-GA 1 47183626 [A/G] NM_014774 EFCAB14 EXON Missense_S45F 1:47183692-TC 1 47183692 [T/C] NM_014774 EFCAB14 EXON Missense_K23R chr1_47183702 1 47183702 [T/C] NM_014774 EFCAB14 EXON Missense_K20E rs4660957 1 47188150 [T/G] rs61782590 1 47188713 [T/G] rs723690 1 47201798 [A/G] rs12563906 1 47205417 [T/C] JHU_1.47206177 1 47206178 [T/A] rs1971518 1 47208081 [A/G] JHU_1.47210011 1 47210012 [A/C] JHU_1.47210665 1 47210666 [T/C] rs651651 1 47211231 [A/T] rs75318826 1 47211907 [C/G] rs2993410 1 47212009 [A/G] rs78987039 1 47212815 [T/C] JHU_1.47212814 1 47212815 [T/C] rs72681921 1 47212830 [T/C] rs594387 1 47213386 [A/G] rs115636160 1 47214474 [A/G] rs147274076 1 47214507 [A/G] rs686053 1 47214785 [A/G] JHU_1.47216069 1 47216070 [T/G] rs720413 1 47219823 [T/C] rs143182714 1 47220262 [A/G] rs59279869 1 47223154 [A/G] JHU_1.47224261 1 47224262 [T/C] rs963039 1 47226682 [A/G] rs986034 1 47226827 [T/G] JHU_1.47228337 1 47228338 [T/C] rs74073096 1 47229608 [A/G] rs112506519 1 47233196 [C/G] rs77232214 1 47234524 [A/G] JHU_1.47255777 1 47255778 [T/C] JHU_1.47255823 1 47255824 [A/G] rs146389378 1 47258495 [A/C] rs863915 1 47259138 [T/C] rs837403 1 47263434 [T/G] rs2297813 1 47264724 [T/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm57055 1 47264766 [T/A] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_F5I,Missense_F5I,Silent,Missense_F5I,Silent,Silent exm57057 1 47264856 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R35W,Missense_R35W,Silent,Missense_R35W,Silent,Silent rs837398 1 47266422 [A/T] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47267431 1 47267432 [T/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs146569906 1 47267595 [G/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47267741 1 47267742 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs681840 1 47268041 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_1:47269416 1 47269416 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs114986206 1 47269646 [A/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs1105456 1 47269984 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs1890250 1 47272785 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs71638017 1 47274288 [A/T] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47274890 1 47274891 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_1:47274990 1 47274990 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs45460201 1 47275746 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_1:47275746 1 47275746 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent exm57064 1 47276532 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_P78L,Missense_P78L,Silent,Missense_P78L,Silent,Silent rs138753850 1 47276615 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R106C,Missense_R106C,Silent,Missense_R106C,Silent,Silent exm57068 1 47276615 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R106C,Missense_R106C,Silent,Missense_R106C,Silent,Silent exm57069 1 47276622 [T/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs116105604 1 47276622 [T/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs2297812 1 47276728 [G/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent kgp15329500 1 47276819 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Synonymous_K110K,Silent,Synonymous_K110K,Silent,Silent rs45559437 1 47276821 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Missense_A111V,Silent,Missense_A111V,Silent,Silent kgp24935388 1 47276854 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Missense_I122T,Silent,Missense_I122T,Silent,Silent JHU_1.47277256 1 47277257 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_1:47277257 1 47277257 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent exm57078 1 47278169 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Synonymous_G108G,Synonymous_G123G,Silent,Synonymous_G123G,Silent,Silent exm57079 1 47278174 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_G110D,Missense_G125D,Silent,Missense_G125D,Silent,Silent rs200388090 1 47278202 [T/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_W119C,Missense_W134C,Silent,Missense_W134C,Silent,Silent 1:47278228-CA 1 47278228 [A/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_P128H,Missense_P143H,Silent,Missense_P143H,Silent,Silent JHU_1.47278368 1 47278369 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47278521 1 47278522 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent rs4646487 1 47279175 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R158W,Missense_R173W,Missense_R10W,Missense_R173W,Missense_R10W,Silent exm57093 1 47279176 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R158Q,Missense_R173Q,Missense_R10Q,Missense_R173Q,Missense_R10Q,Silent 1:47279194-AG 1 47279194 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_D164G,Missense_D179G,Missense_D16G,Missense_D179G,Missense_D16G,Silent 1:47279265-GA 1 47279265 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_G188S,Missense_G203S,Missense_G40S,Missense_G203S,Missense_G40S,Silent 1:47279612-GA 1 47279612 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_D203N,Missense_D217N,Missense_D55N,Missense_D218N,Missense_D54N,Silent exm57103 1 47279636 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R211C,Missense_R225C,Missense_R63C,Missense_R226C,Missense_R62C,Silent exm2233505 1 47279688 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_H228R,Missense_H242R,Missense_H80R,Missense_H243R,Missense_H79R,Silent exm57109 1 47279694 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R230H,Missense_R244H,Missense_R82H,Missense_R245H,Missense_R81H,Silent exm57110 1 47279699 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_F232L,Missense_F246L,Missense_F84L,Missense_F247L,Missense_F83L,Silent rs140074148 1 47279842 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent 1:47279881-AG 1 47279881 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_D244G,Missense_D258G,Missense_D96G,Missense_D259G,Missense_D95G,Silent rs45446505 1 47279898 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R250W,Missense_R264W,Missense_R102W,Missense_R265W,Missense_R101W,Silent kgp15405951 1 47279898 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R250W,Missense_R264W,Missense_R102W,Missense_R265W,Missense_R101W,Silent exm57112 1 47279898 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R250W,Missense_R264W,Missense_R102W,Missense_R265W,Missense_R101W,Silent exm57113 1 47279899 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R250Q,Missense_R264Q,Missense_R102Q,Missense_R265Q,Missense_R101Q,Silent exm57115 1 47279928 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R260W,Missense_R274W,Missense_R112W,Missense_R275W,Missense_R111W,Silent rs45578838 1 47279929 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R260Q,Missense_R274Q,Missense_R112Q,Missense_R275Q,Missense_R111Q,Silent exm57117 1 47279947 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R266Q,Missense_R280Q,Missense_R118Q,Missense_R281Q,Missense_R117Q,Silent Variant12382 1 47280747 [I/D] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON rs3215983 1 47280747 [I/D] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON 1:47280774-CT 1 47280774 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_A289V,Missense_A303V,Missense_A141V,Missense_A304V,Missense_A140V,Silent exm57125 1 47280785 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_A293T,Missense_A307T,Missense_A145T,Missense_A308T,Missense_A144T,Silent exm2233506 1 47280788 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_E294K,Missense_E308K,Missense_E146K,Missense_E309K,Missense_E145K,Silent newrs142539703 1 47280793 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Synonymous_V295V,Synonymous_V309V,Synonymous_V147V,Synonymous_V310V,Synonymous_V146V,Silent exm57127 1 47280830 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_S308G,Missense_S322G,Missense_S160G,Missense_S323G,Missense_S159G,Silent exm57128 1 47280852 [A/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_Y315S,Missense_Y329S,Missense_Y167S,Missense_Y330S,Missense_Y166S,Silent seq-rs12094024 1 47280852 [A/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_Y315S,Missense_Y329S,Missense_Y167S,Missense_Y330S,Missense_Y166S,Silent exm57129 1 47280859 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_M317I,Missense_M331I,Missense_M169I,Missense_M332I,Missense_M168I,Silent rs2297810 1 47280859 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_M317I,Missense_M331I,Missense_M169I,Missense_M332I,Missense_M168I,Silent rs4646491 1 47280884 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R326C,Missense_R340C,Missense_R178C,Missense_R341C,Missense_R177C,Silent exm57131 1 47280903 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R332H,Missense_R346H,Missense_R184H,Missense_R347H,Missense_R183H,Silent exm57133 1 47280927 [T/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_F340C,Missense_F354C,Missense_F192C,Missense_F355C,Missense_F191C,Silent rs17102592 1 47280927 [T/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_F340C,Missense_F354C,Missense_F192C,Missense_F355C,Missense_F191C,Silent rs59694031 1 47282755 [C/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_C355S,Missense_C369S,Missense_C207S,Missense_C370S,Missense_C206S,Silent exm57137 1 47282755 [C/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_C355S,Missense_C369S,Missense_C207S,Missense_C370S,Missense_C206S,Silent exm57139 1 47282772 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R361C,Missense_R375C,Missense_R213C,Missense_R376C,Missense_R212C,Silent kgp1241099 1 47282772 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R361C,Missense_R375C,Missense_R213C,Missense_R376C,Missense_R212C,Silent rs2297809 1 47282772 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R361C,Missense_R375C,Missense_R213C,Missense_R376C,Missense_R212C,Silent exm57140 1 47282773 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R361H,Missense_R375H,Missense_R213H,Missense_R376H,Missense_R212H,Silent ilmnseq_1:47283005 1 47283005 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47283004 1 47283005 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 Silent,Silent,Silent,Silent,Silent,Silent exm57152 1 47283803 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_V410I,Missense_V424I,Missense_V262I,Missense_V425I,Missense_V261I,Silent exm57155 1 47283818 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R415C,Missense_R429C,Missense_R267C,Missense_R430C,Missense_R266C,Silent rs115133540 1 47283818 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R415C,Missense_R429C,Missense_R267C,Missense_R430C,Missense_R266C,Silent 1:47283845-CT 1 47283845 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R424C,Missense_R438C,Missense_R276C,Missense_R439C,Missense_R275C,Silent exm57157 1 47283878 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_G435R,Missense_G449R,Missense_G287R,Missense_G450R,Missense_G286R,Silent rs138678209 1 47284367 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R459C,Missense_R473C,Missense_R311C,Missense_R474C,Missense_R310C,Silent exm57160 1 47284367 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R459C,Missense_R473C,Missense_R311C,Missense_R474C,Missense_R310C,Silent exm57161 1 47284368 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R459H,Missense_R473H,Missense_R311H,Missense_R474H,Missense_R310H,Silent exm57163 1 47284395 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R468Q,Missense_R482Q,Missense_R320Q,Missense_R483Q,Missense_R319Q,Silent rs45622937 1 47284395 [A/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Missense_R468Q,Missense_R482Q,Missense_R320Q,Missense_R483Q,Missense_R319Q,Silent kgp6364747 1 47284526 [A/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Silent,Silent,Silent,Silent,Silent rs45470499 1 47284678 [C/G] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Silent,Silent,Silent,Silent,Silent kgp8583761 1 47284923 [T/C] NM_001319161,NM_000779,NM_001319162,NM_001099772,NM_001319163,NR_135003 CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1,CYP4B1 EXON Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47285474 1 47285475 [T/C] rs13373822 1 47289913 [A/C] JHU_1.47308312 1 47308313 [T/C] exm2264832 1 47309265 [A/G] NR_002788 CYP4Z2P Silent rs10749865 1 47309265 [A/G] NR_002788 CYP4Z2P Silent rs112880386 1 47309632 [A/G] NR_002788 CYP4Z2P Silent rs186740449 1 47309913 [A/G] NR_002788 CYP4Z2P Silent rs72637965 1 47311614 [A/C] NR_002788 CYP4Z2P Silent rs190855754 1 47320857 [G/C] NR_002788 CYP4Z2P Silent JHU_1.47323007 1 47323008 [T/G] NR_002788 CYP4Z2P Silent JHU_1.47323666 1 47323667 [A/G] NR_002788 CYP4Z2P Silent rs6679068 1 47326226 [T/C] NR_002788 CYP4Z2P Silent rs59879160 1 47328678 [T/C] NR_002788 CYP4Z2P Silent JHU_1.47339499 1 47339500 [T/C] NR_002788 CYP4Z2P Silent JHU_1.47343618 1 47343619 [A/G] NR_002788 CYP4Z2P Silent JHU_1.47343727 1 47343728 [A/C] NR_002788 CYP4Z2P Silent JHU_1.47349900 1 47349901 [A/G] NR_002788 CYP4Z2P Silent rs2813855 1 47349901 [A/G] NR_002788 CYP4Z2P Silent JHU_1.47350626 1 47350627 [A/C] NR_002788 CYP4Z2P Silent JHU_1.47351822 1 47351823 [A/G] NR_002788 CYP4Z2P Silent JHU_1.47353600 1 47353601 [T/A] NR_002788 CYP4Z2P Silent JHU_1.47354062 1 47354063 [C/G] NR_002788 CYP4Z2P Silent JHU_1.47360368 1 47360369 [T/C] NR_002788 CYP4Z2P Silent rs74728515 1 47364788 [T/C] NR_002788 CYP4Z2P Silent rs142753310 1 47366096 [T/G] NR_002788 CYP4Z2P EXON Silent rs115874207 1 47370884 [T/C] rs78608349 1 47371962 [T/C] rs12075287 1 47373886 [A/G] rs6687264 1 47374039 [T/C] rs147563684 1 47374501 [T/C] JHU_1.47385131 1 47385132 [T/C] 1:47386216-T-C 1 47386216 [T/C] rs67851981 1 47387964 [A/G] rs147442954 1 47391849 [T/C] rs11211402 1 47392054 [T/C] JHU_1.47393446 1 47393447 [T/A] 1:47395833-CT 1 47395833 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_R473H,Silent,Missense_R505H,Silent,Silent,Silent,Missense_R407H,Silent,Silent,Silent rs200205845 1 47395956 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_M432T,Silent,Missense_M464T,Silent,Silent,Silent,Missense_M366T,Silent,Silent,Silent JHU_1.47396140 1 47396141 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9333029 1 47396162 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_1:47397093 1 47397093 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9333059 1 47398483 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Synonymous_P406P,Silent,Synonymous_P438P,Silent,Silent,Silent,Synonymous_P340P,Silent,Silent,Silent 1:47398496-A-G 1 47398496 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_F402S,Silent,Missense_F434S,Silent,Silent,Silent,Missense_F336S,Silent,Silent,Silent rs9333016 1 47399034 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm57193 1 47399617 [A/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15291327 1 47399750 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_N332D,Silent,Missense_N364D,Silent,Silent,Silent,Missense_N266D,Silent,Silent,Silent kgp15545556 1 47399928 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Synonymous_A304A,Silent,Synonymous_A336A,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.3307 1 47400134 [D/I] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON indel.3308 1 47400149 [I/D] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON 1:47400190-CT 1 47400190 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_G246R,Silent,Missense_G278R,Silent,Silent,Silent,Missense_G226E,Silent,Silent,Silent var_1_47400671 1 47400671 [A/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:47400713-CA 1 47400713 [A/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_R218L,Silent,Missense_R250L,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm57233 1 47400750 [C/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Silent,Silent,Missense_Q238E,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2233507 1 47400785 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Silent,Silent,Missense_N226S,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47401022 1 47401023 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47401081 1 47401082 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs143639289 1 47402373 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_Y158C,Silent,Missense_Y158C,Silent,Silent,Silent,Missense_Y158C,Silent,Silent,Silent exm57250 1 47402373 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_Y158C,Silent,Missense_Y158C,Silent,Silent,Silent,Missense_Y158C,Silent,Silent,Silent rs9333005 1 47402384 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Synonymous_I154I,Silent,Synonymous_I154I,Silent,Silent,Silent,Synonymous_I154I,Silent,Silent,Silent rs9333003 1 47402832 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm57266 1 47403746 [G/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_P87A,Silent,Missense_P87A,Silent,Silent,Silent,Missense_P87A,Silent,Silent,Silent exm57267 1 47403784 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_R74Q,Silent,Missense_R74Q,Silent,Silent,Silent,Missense_R74Q,Silent,Silent,Silent rs9332998 1 47404186 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47405051 1 47405052 [C/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:47406969-TC 1 47406969 [T/C] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_K46R,Silent,Missense_K46R,Silent,Silent,Silent,Missense_K46R,Silent,Silent,Silent 1:47407002-AG 1 47407002 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_V35A,Silent,Missense_V35A,Silent,Silent,Silent,Missense_V35A,Silent,Silent,Silent 1:47407062-AG 1 47407062 [A/G] NM_001319155,NR_134990,NM_000778,NR_134991,NR_134993,NR_134992,NM_001363587,NR_134989,NR_134994,NR_134988 CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11,CYP4A11 EXON Missense_V15A,Silent,Missense_V15A,Silent,Silent,Silent,Missense_V15A,Silent,Silent,Silent JHU_1.47407852 1 47407853 [G/C] rs9332978 1 47407950 [T/C] rs11211406 1 47413786 [A/C] rs146613270 1 47415223 [T/C] rs10789496 1 47416441 [T/C] JHU_1.47418051 1 47418052 [A/C] rs142383115 1 47420156 [T/C] rs6692958 1 47441156 [T/C] NM_001320289 CYP4X1 Silent rs2405585 1 47461469 [C/G] NM_001320289 CYP4X1 Silent rs11589889 1 47463732 [T/G] NM_001320289 CYP4X1 Silent rs74072491 1 47467614 [A/G] NM_001320289 CYP4X1 Silent rs10890438 1 47467796 [T/C] NM_001320289 CYP4X1 Silent rs2897175 1 47481963 [T/C] NM_001320289,NM_001320290 CYP4X1,CYP4X1 Silent,Silent rs75825443 1 47484149 [T/G] NM_001320289,NM_001320290 CYP4X1,CYP4X1 Silent,Silent JHU_1.47485603 1 47485604 [T/G] NM_001320289,NM_001320290 CYP4X1,CYP4X1 Silent,Silent rs8034132 1 47485604 [T/G] NM_001320289,NM_001320290 CYP4X1,CYP4X1 Silent,Silent rs12403250 1 47487081 [T/G] NM_001320289,NM_001320290 CYP4X1,CYP4X1 Silent,Silent JHU_1.47487953 1 47487954 [T/C] NM_001320289,NM_001320290 CYP4X1,CYP4X1 Silent,Silent rs143342117 1 47488745 [A/T] NM_001320289,NM_001320290 CYP4X1,CYP4X1 Silent,Silent rs2036462 1 47489786 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent rs150238868 1 47491572 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent rs9793716 1 47493584 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent JHU_1.47495611 1 47495612 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent 1:47495669-AG 1 47495669 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_Q61R,Silent,Missense_Q62R exm57293 1 47495702 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_I72T,Missense_I8T,Missense_I73T variant.3312 1 47495704 [T/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Nonsense_E73X,Nonsense_E9X,Nonsense_E74X rs9793989 1 47496738 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent var_1_47497152 1 47497152 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_G121R,Missense_G57R,Missense_G122R exm57298 1 47498925 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_A125V,Missense_A61V,Missense_A126V 1:47498960-CT 1 47498960 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_R137C,Missense_R73C,Missense_R138C exm57301 1 47498961 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_R137H,Missense_R73H,Missense_R138H 1:47501594-CA 1 47501594 [A/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Nonsense_C202X,Nonsense_C138X,Nonsense_C203X exm57313 1 47501728 [A/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_S219R,Missense_S155R,Missense_S220R 1:47501795-CA 1 47501795 [A/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_Q242K,Missense_Q178K,Missense_Q243K exm57317 1 47501822 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Nonsense_R251X,Nonsense_R187X,Nonsense_R252X JHU_1.47502041 1 47502042 [T/A] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent JHU_1.47502058 1 47502059 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent 1:47504392-CT 1 47504392 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_P278L,Missense_P214L,Missense_P279L exm57330 1 47505158 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_R342W,Missense_R278W,Missense_R343W exm57337 1 47514254 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_S408G,Missense_S344G,Missense_S409G indel.3316 1 47514284 [D/I] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON 1:47514287-TC 1 47514287 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Missense_W419R,Missense_W355R,Missense_W420R rs116671785 1 47514753 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent variant.3318 1 47515177 [A/G] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 Silent,Silent,Silent rs115238834 1 47516239 [T/C] NM_001320289,NM_001320290,NM_178033 CYP4X1,CYP4X1,CYP4X1 EXON Silent,Silent,Silent JHU_1.47517363 1 47517364 [A/C] JHU_1.47517590 1 47517591 [A/G] rs148863665 1 47526328 [A/C] exm57350 1 47533310 [T/C] NM_178134 CYP4Z1 EXON Missense_P50S exm57351 1 47533321 [A/G] NM_178134 CYP4Z1 EXON Nonsense_W53X JHU_1.47534258 1 47534259 [A/C] NM_178134 CYP4Z1 Silent indel.3320 1 47534370 [I/D] NM_178134 CYP4Z1 EXON JHU_1.47538554 1 47538555 [T/A] NM_178134 CYP4Z1 Silent JHU_1.47544971 1 47544972 [T/C] NM_178134 CYP4Z1 Silent ilmnseq_1:47545312 1 47545312 [A/G] NM_178134 CYP4Z1 Silent JHU_1.47547672 1 47547673 [A/G] NM_178134 CYP4Z1 Silent kgp15236101 1 47548104 [A/G] NM_178134 CYP4Z1 EXON Missense_M155V JHU_1.47550271 1 47550272 [T/A] NM_178134 CYP4Z1 Silent rs11211436 1 47551273 [A/G] NM_178134 CYP4Z1 Silent ilmnseq_1:47557676_F2BT 1 47557676 [A/C] NM_178134 CYP4Z1 Silent JHU_1.47557675 1 47557676 [A/C] NM_178134 CYP4Z1 Silent JHU_1.47559544 1 47559545 [A/G] NM_178134 CYP4Z1 Silent ilmnseq_1:47560166 1 47560166 [A/C] NM_178134 CYP4Z1 Silent exm57372 1 47560307 [A/G] NM_178134 CYP4Z1 EXON Missense_R281H chr1_47560333 1 47560333 [A/C] NM_178134 CYP4Z1 EXON Missense_S290R exm57376 1 47564767 [A/G] NM_178134 CYP4Z1 EXON Missense_S293N exm2233517 1 47564798 [A/T] NM_178134 CYP4Z1 EXON Missense_D303E rs76501670 1 47570033 [T/C] NM_178134 CYP4Z1 Silent rs79994073 1 47570041 [T/G] NM_178134 CYP4Z1 Silent rs6690005 1 47571391 [A/G] NM_178134 CYP4Z1 Silent newrs149156333 1 47571800 [A/G] NM_178134 CYP4Z1 EXON Nonsense_W356X 1:47571853-GA 1 47571853 [A/G] NM_178134 CYP4Z1 EXON Missense_R374H Variant37920 1 47571860 [T/C] NM_178134 CYP4Z1 EXON Synonymous_Y376Y JHU_1.47572117 1 47572118 [A/C] NM_178134 CYP4Z1 Silent ilmnseq_1:47575279 1 47575279 [T/C] NM_178134 CYP4Z1 Silent 1:47575945-C-A 1 47575945 [A/C] NM_178134 CYP4Z1 Silent JHU_1.47576340 1 47576341 [A/G] NM_178134 CYP4Z1 Silent JHU_1.47576436 1 47576437 [A/C] NM_178134 CYP4Z1 Silent JHU_1.47582245 1 47582246 [T/C] NM_178134 CYP4Z1 Silent indel.3324 1 47582365 [I/D] NM_178134 CYP4Z1 EXON 1:47583502-CT 1 47583502 [T/C] NM_178134 CYP4Z1 EXON Missense_R472C 1:47583548-GA 1 47583548 [A/G] NM_178134 CYP4Z1 EXON Missense_R487H kgp15820763 1 47583623 [A/G] NM_178134 CYP4Z1 EXON Silent rs34734216 1 47583723 [A/G] NM_178134 CYP4Z1 EXON Silent rs7554948 1 47584789 [T/G] rs148233665 1 47586191 [T/G] rs12040022 1 47587253 [A/G] JHU_1.47594014 1 47594015 [T/C] JHU_1.47594048 1 47594049 [A/G] JHU_1.47594142 1 47594143 [A/G] rs12564103 1 47594935 [A/C] rs111465151 1 47595362 [T/C] rs3850877 1 47595467 [A/T] JHU_1.47602120 1 47602121 [A/C] 1:47603183-GT 1 47603183 [T/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_S9I,Missense_S9I exm57408 1 47603188 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_R11C,Missense_R11C rs76011927 1 47603188 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_R11C,Missense_R11C exm57409 1 47603256 [C/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_K33N,Missense_K33N rs148805480 1 47603326 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_H57Y,Missense_H57Y JHU_1.47605162 1 47605163 [A/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 Silent,Silent rs12121286 1 47606035 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 Silent,Silent JHU_1.47606153 1 47606154 [A/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 Silent,Silent exm57417 1 47606470 [A/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_L72I,Missense_L72I seq-rs61507155 1 47606567 [T/A] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_Y104F,Missense_Y104F exm57421 1 47606567 [T/A] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_Y104F,Missense_Y104F exm57427 1 47607785 [A/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_G130S,Missense_G130S rs2056900 1 47607785 [A/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_G130S,Missense_G130S rs2056898 1 47608197 [A/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 Silent,Silent JHU_1.47608747 1 47608748 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 Silent,Silent ilmnseq_rs4926581 1 47608983 [T/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_V185F,Missense_V185F exm57446 1 47609489 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_C231R,Silent rs10789501 1 47609489 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_C231R,Silent 1:47609504-TG 1 47609504 [T/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_F236V,Silent exm57448 1 47609516 [A/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_D240N,Silent rs112811686 1 47609589 [T/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 Silent,Silent newrs112811686 1 47609589 [T/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 Silent,Silent indel.3329 1 47610058 [D/I] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON ilmnseq_rs6661132.2_F2BT 1 47610065 [A/T] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_K276M,Missense_E224D rs200832137 1 47610100 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_H288Y,Missense_A236V exm1820433 1 47610137 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 Silent,Silent 1:47610224-TG-T 1 47610224 [D/I] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON rs2405599 1 47611598 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_L428P,Missense_L330P 1:47611598-TC 1 47611598 [T/C] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Missense_L428P,Missense_L330P rs144007744 1 47612186 [A/G] NM_001010969,NM_001308102 CYP4A22,CYP4A22 EXON Silent,Silent 1:47614425-CT 1 47614425 [T/C] NM_001010969 CYP4A22 EXON Missense_L506F rs4926600 1 47614434 [T/C] NM_001010969 CYP4A22 EXON Missense_L509F JHU_1.47616048 1 47616049 [T/C] rs1832992 1 47620126 [A/G] rs3737772 1 47627246 [T/C] rs149089379 1 47631176 [A/G] rs12034515 1 47637999 [T/G] rs6695624 1 47639520 [A/C] rs2798353 1 47641041 [A/G] JHU_1.47642439 1 47642440 [A/C] JHU_1.47645136 1 47645137 [A/G] NR_047498 LINC00853 Silent JHU_1.47645845 1 47645846 [T/G] NR_047498 LINC00853 EXON Silent JHU_1.47647047 1 47647048 [T/C] 1:47649659-CA 1 47649659 [A/C] NM_005764 PDZK1IP1 EXON Missense_R110L 1:47649681-GA 1 47649681 [A/G] NM_005764 PDZK1IP1 EXON Missense_P103S 1:47184465_47184466ins 1 47650137 [I/D] NM_005764 PDZK1IP1 1:47184503_47184504ins 1 47650175 [I/D] NM_005764 PDZK1IP1 1:47650680-CT 1 47650680 [T/C] NM_005764 PDZK1IP1 EXON Missense_S89N exm57524 1 47650744 [T/C] NM_005764 PDZK1IP1 EXON Missense_V68I exm57526 1 47650768 [T/C] NM_005764 PDZK1IP1 EXON Missense_E60K JHU_1.47651661 1 47651662 [T/A] NM_005764 PDZK1IP1 Silent exm57530 1 47653037 [T/C] NM_005764 PDZK1IP1 EXON Missense_V44I exm1820595 1 47653052 [T/C] NM_005764 PDZK1IP1 EXON Missense_V39M exm1820597 1 47653089 [T/G] NM_005764 PDZK1IP1 EXON Missense_N26K rs74074006 1 47653459 [A/G] NM_005764 PDZK1IP1 Silent rs71645854 1 47654458 [T/G] NM_005764 PDZK1IP1 Silent rs3737770 1 47654724 [A/G] NM_005764 PDZK1IP1 Silent exm57533 1 47655567 [A/G] NM_005764 PDZK1IP1 EXON Missense_T13M rs74599854 1 47656596 [T/C] rs12184246 1 47657141 [A/C] JHU_1.47657431 1 47657432 [T/C] JHU_1.47657828 1 47657829 [T/A] rs7531972 1 47661620 [A/C] rs116631404 1 47664233 [G/C] rs114563327 1 47665778 [T/C] rs12760654 1 47669325 [A/G] rs145924097 1 47671609 [A/G] rs13373881 1 47673296 [T/C] rs144525264 1 47673876 [T/C] rs72684348 1 47675566 [A/G] rs741959 1 47676233 [A/G] rs79239990 1 47677746 [G/C] 1:47679094-T-C 1 47679094 [T/C] JHU_1.47680543 1 47680544 [A/C] rs41311164 1 47683333 [T/C] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 EXON Silent,Silent,Silent,Silent,Silent,Silent rs6702849 1 47683828 [A/G] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 EXON Silent,Silent,Silent,Silent,Silent,Silent rs977747 1 47684677 [T/G] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 EXON Silent,Silent,Silent,Silent,Silent,Silent rs140161351 1 47685525 [T/C] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 EXON Missense_N288S,Missense_N288S,Missense_N288S,Missense_N288S,Missense_N288S,Missense_N129S 1:47685604-CA 1 47685604 [A/C] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 EXON Missense_V262L,Missense_V262L,Missense_V262L,Missense_V262L,Missense_V262L,Missense_V103L rs2249636 1 47686533 [A/C] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 Silent,Silent,Silent,Silent,Silent,Silent rs80073009 1 47687319 [T/C] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 Silent,Silent,Silent,Silent,Silent,Silent exm1820647 1 47689696 [T/C] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 EXON Missense_Y174C,Missense_Y174C,Missense_Y174C,Missense_Y174C,Missense_Y174C,Missense_Y15C 1:47689720-CT 1 47689720 [T/C] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 EXON Missense_R166Q,Missense_R166Q,Missense_R166Q,Missense_R166Q,Missense_R166Q,Missense_R7Q exm57556 1 47689770 [A/G] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 EXON Synonymous_S149S,Synonymous_S149S,Synonymous_S149S,Synonymous_S149S,Synonymous_S149S,Silent rs11211480 1 47693220 [A/G] NM_001290404,NM_001290403,NM_003189,NM_001287347,NM_001290405,NM_001290406 TAL1,TAL1,TAL1,TAL1,TAL1,TAL1 Silent,Silent,Silent,Silent,Silent,Silent rs72896547 1 47698860 [A/G] rs12083555 1 47703400 [T/G] rs11211484 1 47708369 [T/C] rs72637985 1 47708738 [T/C] JHU_1.47709672 1 47709673 [T/C] JHU_1.47709830 1 47709831 [T/C] rs2758738 1 47710154 [T/C] rs79333061 1 47710608 [A/T] rs12042129 1 47711446 [A/G] JHU_1.47714458 1 47714459 [A/G] rs184977531 1 47716078 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Silent,Silent,Silent,Silent,Silent,Silent exm57573 1 47716980 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_R1231Q,Missense_R1231Q,Missense_R1214Q,Missense_R1167Q,Missense_R1232Q,Missense_R1185Q rs148592489 1 47716980 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_R1231Q,Missense_R1231Q,Missense_R1214Q,Missense_R1167Q,Missense_R1232Q,Missense_R1185Q indel.3335 1 47717021 [I/D] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON exm57575 1 47717077 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_T1199A,Missense_T1199A,Missense_T1182A,Missense_T1135A,Missense_T1200A,Missense_T1153A exm57576 1 47717079 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_I1198T,Missense_I1198T,Missense_I1181T,Missense_I1134T,Missense_I1199T,Missense_I1152T exm57577 1 47717094 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_P1193L,Missense_P1193L,Missense_P1176L,Missense_P1129L,Missense_P1194L,Missense_P1147L ilmnseq_rs550062989 1 47717160 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_S1171F,Missense_S1171F,Missense_S1154F,Missense_S1107F,Missense_S1172F,Missense_S1125F 1:47717160-GA 1 47717160 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_S1171F,Missense_S1171F,Missense_S1154F,Missense_S1107F,Missense_S1172F,Missense_S1125F exm2233523 1 47717238 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_A1145V,Missense_A1145V,Missense_A1128V,Missense_A1081V,Missense_A1146V,Missense_A1099V exm57587 1 47717245 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_D1143N,Missense_D1143N,Missense_D1126N,Missense_D1079N,Missense_D1144N,Missense_D1097N rs142315727 1 47717297 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Synonymous_R1125R,Synonymous_R1125R,Synonymous_R1108R,Synonymous_R1061R,Synonymous_R1126R,Synonymous_R1079R rs114431636 1 47717319 [T/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_A1118E,Missense_A1118E,Missense_A1101E,Missense_A1054E,Missense_A1119E,Missense_A1072E rs190918041 1 47717418 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_S1085L,Missense_S1085L,Missense_S1068L,Missense_S1021L,Missense_S1086L,Missense_S1039L exm57596 1 47717505 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_N1056S,Missense_N1056S,Missense_N1039S,Missense_N992S,Missense_N1057S,Missense_N1010S exm57598 1 47717529 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_V1048A,Missense_V1048A,Missense_V1031A,Missense_V984A,Missense_V1049A,Missense_V1002A JHU_1.47722311 1 47722312 [A/T] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent rs6588095 1 47724166 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent exm57599 1 47725974 [A/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_V1022L,Missense_V1022L,Missense_V1005L,Missense_V958L,Missense_V1023L,Missense_V976L rs199558457 1 47725980 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_H1020Y,Missense_H1020Y,Missense_H1003Y,Missense_H956Y,Missense_H1021Y,Missense_H974Y exm57602 1 47726087 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_H984R,Missense_H984R,Missense_H967R,Missense_H920R,Missense_H985R,Missense_H938R rs13376679 1 47726087 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_H984R,Missense_H984R,Missense_H967R,Missense_H920R,Missense_H985R,Missense_H938R 1:47726103-TC 1 47726103 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_T979A,Missense_T979A,Missense_T962A,Missense_T915A,Missense_T980A,Missense_T933A exm57604 1 47726135 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_H968R,Missense_H968R,Missense_H951R,Missense_H904R,Missense_H969R,Missense_H922R rs148193936 1 47726135 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_H968R,Missense_H968R,Missense_H951R,Missense_H904R,Missense_H969R,Missense_H922R exm1820775 1 47735307 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_N872S,Missense_N872S,Missense_N872S,Missense_N825S,Missense_N872S,Missense_N825S exm57618 1 47735328 [T/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_N865T,Missense_N865T,Missense_N865T,Missense_N818T,Missense_N865T,Missense_N818T chr1_47735401 1 47735401 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_S841G,Missense_S841G,Missense_S841G,Missense_S794G,Missense_S841G,Missense_S794G rs140975915 1 47735551 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent rs149697952 1 47737769 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_V788I,Missense_V788I,Missense_V788I,Missense_V741I,Missense_V788I,Missense_V741I exm57630 1 47737769 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_V788I,Missense_V788I,Missense_V788I,Missense_V741I,Missense_V788I,Missense_V741I exm57631 1 47737772 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_G787S,Missense_G787S,Missense_G787S,Missense_G740S,Missense_G787S,Missense_G740S 1:47737906-CT 1 47737906 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_R742H,Missense_R742H,Missense_R742H,Missense_R695H,Missense_R742H,Missense_R695H rs78868947 1 47739433 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47740284 1 47740285 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47740963 1 47740964 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent rs367684720 1 47742068 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47744972 1 47744973 [A/T] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47745417 1 47745418 [A/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent 1:47745998-GA 1 47745998 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_S711L,Missense_S711L,Missense_S711L,Missense_S664L,Missense_S711L,Missense_S664L newrs141874074 1 47746036 [A/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_Q698H,Missense_Q698H,Missense_Q698H,Missense_Q651H,Missense_Q698H,Missense_Q651H 1:47746067-GA 1 47746067 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_P688L,Missense_P688L,Missense_P688L,Missense_P641L,Missense_P688L,Missense_P641L exm57644 1 47746113 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_S673G,Missense_S673G,Missense_S673G,Missense_S626G,Missense_S673G,Missense_S626G exm57648 1 47746254 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_V626I,Missense_V626I,Missense_V626I,Missense_V579I,Missense_V626I,Missense_V579I 1:47746617-CA 1 47746617 [A/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_V505L,Missense_V505L,Missense_V505L,Missense_V458L,Missense_V505L,Missense_V458L rs139912214 1 47746675 [G/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_L485F,Missense_L485F,Missense_L485F,Missense_L438F,Missense_L485F,Missense_L438F variant.3338 1 47748012 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent 1:47748034-GT 1 47748034 [T/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_H411N,Missense_H411N,Missense_H411N,Missense_H364N,Missense_H411N,Missense_H364N exm57665 1 47748036 [C/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_P410R,Missense_P410R,Missense_P410R,Missense_P363R,Missense_P410R,Missense_P363R rs202194355 1 47748036 [C/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_P410R,Missense_P410R,Missense_P410R,Missense_P363R,Missense_P410R,Missense_P363R exm57667 1 47748129 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_S379F,Missense_S379F,Missense_S379F,Missense_S332F,Missense_S379F,Missense_S332F JHU_1.47752099 1 47752100 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent exm57668 1 47753287 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_A357T,Missense_A357T,Missense_A357T,Missense_A310T,Missense_A357T,Missense_A310T exm57670 1 47753301 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_R352H,Missense_R352H,Missense_R352H,Missense_R305H,Missense_R352H,Missense_R305H 1:47753317-CT 1 47753317 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_D347N,Missense_D347N,Missense_D347N,Missense_D300N,Missense_D347N,Missense_D300N rs188900275 1 47753336 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent ilmnseq_rs149296029 1 47755125 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Synonymous_E335E,Synonymous_E335E,Synonymous_E335E,Synonymous_E288E,Synonymous_E335E,Synonymous_E288E 1:47755238-TC 1 47755238 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_N298D,Missense_N298D,Missense_N298D,Missense_N251D,Missense_N298D,Missense_N251D rs144568919 1 47755421 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent JHU_1.47756034 1 47756035 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent 1:47759161-GA 1 47759161 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Nonsense_R281X,Nonsense_R281X,Nonsense_R281X,Nonsense_R234X,Nonsense_R281X,Nonsense_R234X 1:47761478-CA 1 47761478 [A/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_L248F,Missense_L248F,Missense_L248F,Missense_L201F,Missense_L248F,Missense_L201F 1:47761498-GA 1 47761498 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_R242C,Missense_R242C,Missense_R242C,Missense_R195C,Missense_R242C,Missense_R195C JHU_1.47762092 1 47762093 [A/T] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent exm57696 1 47765811 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_H156R,Missense_H156R,Missense_H156R,Missense_H156R,Missense_H156R,Missense_H156R rs138649439 1 47766424 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent rs6697248 1 47766943 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent chr1_47767352 1 47767352 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_I112V,Missense_I112V,Missense_I112V,Missense_I112V,Missense_I112V,Missense_I112V 1:47767409-CT 1 47767409 [T/C] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_V93I,Missense_V93I,Missense_V93I,Missense_V93I,Missense_V93I,Missense_V93I exm57699 1 47767914 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V,Missense_A86V exm57700 1 47767944 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL EXON Missense_S76L,Missense_S76L,Missense_S76L,Missense_S76L,Missense_S76L,Missense_S76L rs368201717 1 47770557 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent 1:47770700-AG 1 47770700 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent indel.3339 1 47770710 [I/D] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL JHU_1.47778232 1 47778233 [A/G] NM_003035,NM_001282936,NM_001282937,NM_001282939,NM_001048166,NM_001282938 STIL,STIL,STIL,STIL,STIL,STIL Silent,Silent,Silent,Silent,Silent,Silent rs77483181 1 47784983 [A/G] rs6690084 1 47794706 [T/C] 1:47797623-G-A 1 47797623 [A/G] rs3925058 1 47797623 [A/G] 1:47799639-G-C 1 47799639 [C/G] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Missense_G8R,Missense_G8R 1:47799682-GA 1 47799682 [A/G] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Missense_R22H,Missense_R22H 1:47799709-GT 1 47799709 [T/G] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Missense_R31L,Missense_R31L 1:47799729-GT 1 47799729 [T/G] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Missense_V38L,Missense_V38L 1:47799750-GA 1 47799750 [A/G] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Missense_G45S,Missense_G45S 1:47799751-GT 1 47799751 [T/G] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Missense_G45V,Missense_G45V exm2265006 1 47800713 [A/G] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent 1:47800845-A-C 1 47800845 [A/C] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs4492666 1 47800845 [A/C] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs147010905 1 47803903 [A/C] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs12123269 1 47806087 [A/G] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs75818304 1 47814455 [A/T] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs150945776 1 47815932 [T/C] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent JHU_1.47818200 1 47818201 [A/G] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs10789507 1 47820192 [T/C] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs2622914 1 47821848 [G/C] NR_046394,NR_046395,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs11211524 1 47833213 [A/C] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 Silent,Silent,Silent 1:47833213-A-C 1 47833213 [A/C] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 Silent,Silent,Silent exm57717 1 47834152 [A/C] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Nonsense_Y61X,Silent rs35687416 1 47834209 [T/G] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Missense_Q80H,Silent JHU_1.47834208 1 47834209 [T/G] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Missense_Q80H,Silent exm57721 1 47834209 [T/G] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Missense_Q80H,Silent JHU_1.47837348 1 47837349 [T/C] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 Silent,Silent,Silent rs74571135 1 47838189 [G/C] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 Silent,Silent,Silent exm57725 1 47838627 [A/G] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Missense_E107K,Missense_E58K exm57726 1 47838652 [A/G] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Missense_N115S,Missense_N66S JHU_1.47841556 1 47841557 [T/C] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 Silent,Silent,Silent rs12090346 1 47841557 [T/C] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 Silent,Silent,Silent 1:47841557-C-T 1 47841557 [T/C] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 Silent,Silent,Silent rs1044457 1 47842777 [T/C] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Silent 1:47842777-C-T 1 47842777 [T/C] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Silent rs6795 1 47844464 [A/G] NR_046394,NM_016308,NM_001136140 CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Silent JHU_1.47847278 1 47847279 [A/G] NR_126355 LINC01389 Silent JHU_1.47850736 1 47850737 [T/C] NR_126355 LINC01389 Silent 1:47854239-T-A 1 47854239 [A/T] NR_126355 LINC01389 Silent rs17103186 1 47854514 [T/C] NR_126355 LINC01389 Silent rs78612312 1 47863026 [A/G] NR_126355 LINC01389 Silent rs76102695 1 47863070 [T/G] NR_126355 LINC01389 Silent rs34677828 1 47867055 [T/C] NR_126355 LINC01389 Silent rs6679121 1 47867150 [A/G] NR_126355 LINC01389 Silent rs11579058 1 47868005 [T/C] NR_126355 LINC01389 Silent rs7555040 1 47869316 [A/G] NR_126355 LINC01389 Silent rs7528075 1 47870271 [A/G] NR_126355 LINC01389 Silent rs78431586 1 47876421 [A/G] NR_126355 LINC01389 Silent rs76895611 1 47879949 [T/G] NR_126355 LINC01389 Silent Variant48460 1 47882256 [T/G] NR_126355,NM_012186 LINC01389,FOXE3 EXON Silent,Missense_R90L 1:47882274-CA 1 47882274 [A/C] NR_126355,NM_012186 LINC01389,FOXE3 EXON Silent,Missense_A96D 1:47882625-CA 1 47882625 [A/C] NR_126355,NM_012186 LINC01389,FOXE3 EXON Silent,Missense_P213H 1:47882946-G-T 1 47882946 [T/G] NR_126355,NM_012186 LINC01389,FOXE3 EXON Silent,Missense_X320L rs77535089 1 47884472 [A/G] NR_126355 LINC01389 Silent JHU_1.47886957 1 47886958 [A/G] NR_126355 LINC01389 Silent JHU_1.47889182 1 47889183 [T/C] NR_126355 LINC01389 Silent rs74074268 1 47890344 [A/T] NR_126355 LINC01389 Silent rs7525184 1 47891361 [T/C] NR_126355 LINC01389 Silent rs2820974 1 47893929 [T/C] NR_126355 LINC01389 Silent rs369503948 1 47898317 [T/C] NR_126355,NR_026878 LINC01389,FOXD2-AS1 EXON Silent,Silent rs3738316 1 47902817 [A/G] NR_126355,NM_004474 LINC01389,FOXD2 EXON Silent,Silent 1:47904930-GA 1 47904930 [A/G] NM_004474 FOXD2 EXON Missense_A375T 1:47905089-CA 1 47905089 [A/C] NM_004474 FOXD2 EXON Missense_P428T JHU_1.47914323 1 47914324 [T/G] JHU_1.47914363 1 47914364 [T/C] rs17103253 1 47916965 [T/C] rs527430 1 47918821 [A/G] JHU_1.47919326 1 47919327 [T/G] rs146647068 1 47923556 [C/G] rs6695969 1 47927545 [A/G] JHU_1.47930640 1 47930641 [T/C] rs543640 1 47932550 [T/G] JHU_1.47935800 1 47935801 [T/G] rs505399 1 47936696 [T/C] rs10789509 1 47938129 [T/C] JHU_1.47942152 1 47942153 [A/G] JHU_1.47942744 1 47942745 [A/C] rs6588397 1 47943032 [T/C] rs115361613 1 47946568 [T/C] rs2065945 1 47948764 [A/G] rs2065944 1 47948798 [A/G] exm-rs517384 1 47952663 [T/G] rs6665323 1 47953054 [T/C] JHU_1.47955114 1 47955115 [T/A] rs515146 1 47955790 [T/C] rs17103322 1 47959147 [T/C] rs12123884 1 47960631 [T/C] JHU_1.47961173 1 47961174 [T/C] rs10157710 1 47961691 [T/C] JHU_1.47964781 1 47964782 [A/G] rs2065946 1 47968050 [A/C] rs76771362 1 47968901 [A/G] JHU_1.47971686 1 47971687 [C/G] rs7517146 1 47976330 [T/C] JHU_1.47978400 1 47978401 [A/G] rs7523969 1 47978609 [T/C] rs822886 1 47981663 [T/C] rs560540 1 47983283 [T/C] rs529412 1 47984381 [A/G] JHU_1.47984437 1 47984438 [T/C] rs116452332 1 47984474 [A/G] rs2506985 1 47986452 [A/G] rs11808094 1 47989572 [A/G] rs11588699 1 47990199 [A/G] JHU_1.48002254 1 48002255 [A/G] JHU_1.48002376 1 48002377 [G/C] JHU_1.48002446 1 48002447 [A/G] JHU_1.48002575 1 48002576 [A/G] JHU_1.48002715 1 48002716 [A/G] rs518063 1 48003121 [A/G] rs142857197 1 48003323 [T/C] rs12032932 1 48004858 [A/C] rs115471818 1 48006123 [T/C] rs13374011 1 48006289 [A/G] rs2506982 1 48006353 [T/C] rs2457069 1 48009789 [T/C] rs667016 1 48011336 [T/A] JHU_1.48014456 1 48014457 [A/G] rs72886478 1 48014457 [A/G] rs694308 1 48015258 [T/C] rs12028069 1 48015566 [A/G] rs142243343 1 48015783 [A/G] rs12124180 1 48015862 [T/C] rs12743540 1 48016511 [T/C] rs78506156 1 48017194 [T/C] rs12121534 1 48018359 [T/C] rs72886488 1 48020309 [A/G] rs978246 1 48020922 [T/G] rs685001 1 48025063 [A/C] rs4926901 1 48025824 [A/G] rs1567310 1 48028705 [T/C] rs11583750 1 48030350 [A/G] JHU_1.48031832 1 48031833 [T/C] rs12131166 1 48033804 [A/G] rs115809402 1 48037255 [T/C] rs115398477 1 48040110 [T/C] JHU_1.48040726 1 48040727 [A/G] rs59718101 1 48040857 [T/C] JHU_1.48043931 1 48043932 [T/C] rs79459024 1 48044203 [C/G] exm2264833 1 48048060 [A/G] rs1355063 1 48048690 [A/G] rs12093240 1 48049167 [A/C] rs2507005 1 48049405 [T/C] JHU_1.48050326 1 48050327 [G/C] rs78896829 1 48050972 [A/C] rs72690303 1 48053626 [T/C] JHU_1.48054680 1 48054681 [T/C] rs2457046 1 48054751 [A/G] JHU_1.48055660 1 48055661 [T/G] rs2507003 1 48056117 [T/G] rs76455520 1 48056823 [A/G] rs12755896 1 48057390 [G/C] rs12086883 1 48057654 [A/G] JHU_1.48057686 1 48057687 [A/T] rs4926910 1 48058766 [T/C] rs1108866 1 48060089 [T/C] JHU_1.48061489 1 48061490 [T/A] rs10890492 1 48063350 [A/G] rs11211569 1 48063502 [T/C] JHU_1.48063901 1 48063902 [A/G] rs72888361 1 48064154 [A/G] rs118074321 1 48065586 [A/G] rs12058525 1 48066171 [A/G] JHU_1.48067719 1 48067720 [T/G] JHU_1.48067723 1 48067724 [T/A] rs2457063 1 48071549 [A/G] JHU_1.48076286 1 48076287 [A/T] rs72888386 1 48077788 [T/C] rs6660568 1 48082491 [A/G] rs6663797 1 48082700 [T/C] rs4926916 1 48085268 [T/C] rs6687473 1 48089310 [T/C] rs77028476 1 48089973 [T/C] rs11211576 1 48091748 [A/G] JHU_1.48093949 1 48093950 [A/T] JHU_1.48095892 1 48095893 [A/G] JHU_1.48096695 1 48096696 [A/G] JHU_1.48097493 1 48097494 [A/G] JHU_1.48097663 1 48097664 [A/T] JHU_1.48097804 1 48097805 [G/C] JHU_1.48098050 1 48098051 [A/C] rs12747936 1 48098186 [C/G] rs17455819 1 48098297 [A/G] rs2457052 1 48098459 [T/C] JHU_1.48098805 1 48098806 [T/G] JHU_1.48099518 1 48099519 [A/T] JHU_1.48101446 1 48101447 [T/C] JHU_1.48101882 1 48101883 [T/C] rs72690339 1 48101978 [A/G] rs11588458 1 48102294 [A/C] rs10157025 1 48103092 [T/C] rs2457054 1 48103170 [A/G] JHU_1.48104081 1 48104082 [A/G] rs117512097 1 48104904 [A/C] JHU_1.48106774 1 48106775 [A/G] rs80233603 1 48106826 [T/G] rs12132825 1 48107575 [G/C] rs4926925 1 48113798 [A/G] JHU_1.48115275 1 48115276 [A/G] rs11211585 1 48117693 [T/C] rs12041353 1 48120277 [A/G] rs76080871 1 48121127 [T/G] rs12409800 1 48121291 [A/G] JHU_1.48122502 1 48122503 [A/G] rs79811665 1 48123954 [T/C] JHU_1.48125422 1 48125423 [T/G] JHU_1.48127598 1 48127599 [A/T] rs12755175 1 48136922 [T/C] rs79285194 1 48142053 [T/C] rs10890496 1 48142560 [T/C] rs146620537 1 48143675 [A/C] rs12073935 1 48150453 [A/C] rs149828067 1 48151629 [T/C] rs1249090 1 48153140 [A/G] JHU_1.48154135 1 48154136 [A/T] JHU_1.48159010 1 48159011 [T/C] rs80011726 1 48160265 [A/G] rs113739785 1 48160598 [T/C] rs12130101 1 48164858 [A/G] JHU_1.48167884 1 48167885 [A/G] rs11211590 1 48168375 [A/G] JHU_1.48171880 1 48171881 [T/C] rs10789513 1 48173235 [A/G] JHU_1.48173555 1 48173556 [A/G] rs1439916 1 48174867 [T/C] JHU_1.48179617 1 48179618 [A/G] rs12568375 1 48179754 [T/C] rs141718760 1 48180633 [A/C] rs12044629 1 48185662 [A/G] JHU_1.48186364 1 48186365 [A/G] rs7530242 1 48189253 [T/C] 1:48190950-T-C 1 48190950 [T/C] rs4926601 1 48193205 [T/C] rs74069621 1 48195609 [G/C] rs11211597 1 48196380 [A/G] rs12022200 1 48196590 [A/G] rs116857055 1 48197142 [A/C] rs74069622 1 48197159 [T/C] JHU_1.48197324 1 48197325 [A/G] rs72890249 1 48197325 [A/G] JHU_1.48198285 1 48198286 [A/G] rs12740308 1 48209366 [A/C] JHU_1.48213610 1 48213611 [T/C] JHU_1.48213735 1 48213736 [G/C] rs78475031 1 48213759 [A/G] JHU_1.48213933 1 48213934 [C/G] JHU_1.48214206 1 48214207 [A/G] rs12133618 1 48215337 [T/C] rs11579242 1 48215379 [A/G] rs115775105 1 48216198 [A/C] JHU_1.48218464 1 48218465 [T/C] JHU_1.48221709 1 48221710 [T/G] rs6588490 1 48224494 [T/C] JHU_1.48224591 1 48224592 [T/C] rs1561573 1 48227943 [T/C] NM_001194986 TRABD2B EXON Silent rs78300625 1 48228524 [T/C] NM_001194986 TRABD2B EXON Silent rs12085966 1 48229395 [T/C] NM_001194986 TRABD2B EXON Silent rs146734925 1 48229934 [T/G] NM_001194986 TRABD2B EXON Silent rs34205788 1 48230146 [A/T] NM_001194986 TRABD2B EXON Silent 1:48231582-GT 1 48231582 [T/G] NM_001194986 TRABD2B EXON Missense_P516T 1:48231624-CT 1 48231624 [T/C] NM_001194986 TRABD2B EXON Missense_A502T exm57822 1 48231630 [T/C] NM_001194986 TRABD2B EXON Missense_A500T rs4927044 1 48232179 [A/G] NM_001194986 TRABD2B Silent JHU_1.48233104 1 48233105 [A/G] NM_001194986 TRABD2B Silent JHU_1.48233392 1 48233393 [C/G] NM_001194986 TRABD2B Silent JHU_1.48233463 1 48233464 [T/C] NM_001194986 TRABD2B Silent rs35105673 1 48233464 [T/C] NM_001194986 TRABD2B Silent rs3850881 1 48233751 [T/C] NM_001194986 TRABD2B Silent JHU_1.48234562 1 48234563 [A/G] NM_001194986 TRABD2B Silent rs6701938 1 48234949 [T/C] NM_001194986 TRABD2B Silent JHU_1.48235189 1 48235190 [A/G] NM_001194986 TRABD2B Silent JHU_1.48235624 1 48235625 [T/C] NM_001194986 TRABD2B Silent rs7512511 1 48236025 [A/T] NM_001194986 TRABD2B Silent rs6657202 1 48236963 [A/G] NM_001194986 TRABD2B Silent rs2282361 1 48240005 [T/C] NM_001194986 TRABD2B Silent rs17458210 1 48240289 [T/C] NM_001194986 TRABD2B Silent 1:48240954-CT 1 48240954 [T/C] NM_001194986 TRABD2B EXON Missense_D413N exm57825 1 48241091 [T/G] NM_001194986 TRABD2B EXON Missense_A367E rs142492137 1 48241318 [T/C] NM_001194986 TRABD2B Silent rs3850884 1 48246912 [A/G] NM_001194986 TRABD2B Silent JHU_1.48247554 1 48247555 [T/C] NM_001194986 TRABD2B Silent rs142747538 1 48248029 [A/G] NM_001194986 TRABD2B Silent rs140645691 1 48248946 [A/T] NM_001194986 TRABD2B Silent rs3862273 1 48251342 [T/G] NM_001194986 TRABD2B Silent rs188022490 1 48253056 [A/C] NM_001194986 TRABD2B Silent rs6588505 1 48254782 [T/C] NM_001194986 TRABD2B Silent rs6588506 1 48255008 [A/G] NM_001194986 TRABD2B Silent rs11211603 1 48255796 [T/C] NM_001194986 TRABD2B Silent JHU_1.48255825 1 48255826 [T/C] NM_001194986 TRABD2B Silent rs11588914 1 48256378 [A/G] NM_001194986 TRABD2B Silent rs191768547 1 48257365 [A/C] NM_001194986 TRABD2B Silent rs6675571 1 48257485 [A/C] NM_001194986 TRABD2B Silent rs142115071 1 48258647 [A/G] NM_001194986 TRABD2B Silent rs3850887 1 48258952 [T/C] NM_001194986 TRABD2B Silent rs76931996 1 48260074 [A/G] NM_001194986 TRABD2B Silent rs113658430 1 48265386 [T/G] NM_001194986 TRABD2B Silent JHU_1.48267073 1 48267074 [T/C] NM_001194986 TRABD2B Silent 1:48267161-TC 1 48267161 [T/C] NM_001194986 TRABD2B EXON Missense_N266S exm57828 1 48267174 [T/C] NM_001194986 TRABD2B EXON Missense_A262T 1:48271538-C-T 1 48271538 [T/C] NM_001194986 TRABD2B Silent rs114654415 1 48274746 [A/G] NM_001194986 TRABD2B Silent rs61257130 1 48275077 [T/C] NM_001194986 TRABD2B Silent JHU_1.48275835 1 48275836 [A/G] NM_001194986 TRABD2B Silent rs4927094 1 48276628 [T/C] NM_001194986 TRABD2B Silent rs12070536 1 48278275 [T/C] NM_001194986 TRABD2B Silent rs114378184 1 48278555 [T/C] NM_001194986 TRABD2B Silent rs72892383 1 48279873 [T/C] NM_001194986 TRABD2B Silent rs76582635 1 48279944 [G/C] NM_001194986 TRABD2B Silent JHU_1.48281516 1 48281517 [A/C] NM_001194986 TRABD2B Silent rs115076116 1 48281727 [A/G] NM_001194986 TRABD2B Silent rs77257685 1 48281872 [A/G] NM_001194986 TRABD2B Silent rs12024706 1 48282376 [T/G] NM_001194986 TRABD2B Silent JHU_1.48282572 1 48282573 [A/C] NM_001194986 TRABD2B Silent JHU_1.48285666 1 48285667 [A/G] NM_001194986 TRABD2B Silent JHU_1.48286924 1 48286925 [A/G] NM_001194986 TRABD2B Silent rs11211611 1 48288016 [A/C] NM_001194986 TRABD2B Silent rs6666271 1 48291425 [T/C] NM_001194986 TRABD2B Silent rs150105253 1 48292961 [C/G] NM_001194986 TRABD2B Silent JHU_1.48295476 1 48295477 [C/G] NM_001194986 TRABD2B Silent rs72690401 1 48295843 [T/C] NM_001194986 TRABD2B Silent rs115898837 1 48299279 [T/C] NM_001194986 TRABD2B Silent rs140716428 1 48300688 [T/C] NM_001194986 TRABD2B Silent rs74513731 1 48304331 [T/C] NM_001194986 TRABD2B Silent rs114283573 1 48308866 [T/C] NM_001194986 TRABD2B Silent rs10890507 1 48309587 [T/C] NM_001194986 TRABD2B Silent rs140238020 1 48315017 [T/C] NM_001194986 TRABD2B Silent rs74712900 1 48317101 [T/C] NM_001194986 TRABD2B Silent rs11808034 1 48319884 [T/G] NM_001194986 TRABD2B Silent rs946836 1 48321221 [T/C] NM_001194986 TRABD2B Silent rs142295406 1 48322979 [G/C] NM_001194986 TRABD2B Silent JHU_1.48323880 1 48323881 [T/C] NM_001194986 TRABD2B Silent JHU_1.48326960 1 48326961 [T/G] NM_001194986 TRABD2B Silent rs7536189 1 48331522 [T/C] NM_001194986 TRABD2B Silent JHU_1.48331522 1 48331523 [A/G] NM_001194986 TRABD2B Silent JHU_1.48332649 1 48332650 [G/C] NM_001194986 TRABD2B Silent rs4926664 1 48335067 [T/G] NM_001194986 TRABD2B Silent rs113106636 1 48336138 [T/C] NM_001194986 TRABD2B Silent rs11577793 1 48337871 [G/C] NM_001194986 TRABD2B Silent rs10443227 1 48342623 [A/G] NM_001194986 TRABD2B Silent rs12048888 1 48343224 [T/C] NM_001194986 TRABD2B Silent rs72898113 1 48352607 [A/G] NM_001194986 TRABD2B Silent rs36107973 1 48353107 [T/C] NM_001194986 TRABD2B Silent JHU_1.48357035 1 48357036 [C/G] NM_001194986 TRABD2B Silent rs11211624 1 48359634 [T/G] NM_001194986 TRABD2B Silent rs12030734 1 48361613 [C/G] NM_001194986 TRABD2B Silent rs2088361 1 48362713 [T/C] NM_001194986 TRABD2B Silent rs2352799 1 48362974 [T/C] NM_001194986 TRABD2B Silent JHU_1.48368491 1 48368492 [T/C] NM_001194986 TRABD2B Silent JHU_1.48372733 1 48372734 [C/G] NM_001194986 TRABD2B Silent rs58473929 1 48374384 [A/G] NM_001194986 TRABD2B Silent rs79835221 1 48374823 [A/G] NM_001194986 TRABD2B Silent rs75298726 1 48376182 [T/C] NM_001194986 TRABD2B Silent rs4926685 1 48382714 [T/C] NM_001194986 TRABD2B Silent rs57963576 1 48386765 [A/G] NM_001194986 TRABD2B Silent rs1497095 1 48386888 [T/C] NM_001194986 TRABD2B Silent JHU_1.48391862 1 48391863 [T/C] NM_001194986 TRABD2B Silent rs1845964 1 48403889 [T/C] NM_001194986 TRABD2B Silent rs11211632 1 48406460 [A/G] NM_001194986 TRABD2B Silent JHU_1.48407110 1 48407111 [A/T] NM_001194986 TRABD2B Silent JHU_1.48411427 1 48411428 [A/G] NM_001194986 TRABD2B Silent rs1603530 1 48411729 [A/G] NM_001194986 TRABD2B Silent JHU_1.48412878 1 48412879 [T/C] NM_001194986 TRABD2B Silent rs2840301 1 48413544 [T/C] NM_001194986 TRABD2B Silent rs114502563 1 48420101 [T/C] NM_001194986 TRABD2B Silent rs117545860 1 48422723 [T/A] NM_001194986 TRABD2B Silent rs79533670 1 48431218 [A/G] NM_001194986 TRABD2B Silent JHU_1.48433043 1 48433044 [T/C] NM_001194986 TRABD2B Silent rs71645886 1 48435568 [T/C] NM_001194986 TRABD2B Silent rs11205430 1 48442182 [A/G] NM_001194986 TRABD2B Silent rs2065606 1 48444912 [A/G] NM_001194986 TRABD2B Silent rs80280687 1 48449484 [T/C] NM_001194986 TRABD2B Silent JHU_1.48454204 1 48454205 [T/C] NM_001194986 TRABD2B Silent JHU_1.48456442 1 48456443 [T/A] NM_001194986 TRABD2B Silent rs6676465 1 48457543 [T/G] NM_001194986 TRABD2B Silent exm57832 1 48459819 [A/C] NM_001194986 TRABD2B EXON Missense_V185L 1:48459908-GA 1 48459908 [A/G] NM_001194986 TRABD2B EXON Missense_A155V rs80128631 1 48460734 [A/T] NM_001194986 TRABD2B Silent JHU_1.48462657 1 48462658 [A/G] JHU_1.48465238 1 48465239 [A/G] JHU_1.48467449 1 48467450 [T/C] rs78466496 1 48470365 [A/C] rs12405474 1 48470813 [T/G] rs115390449 1 48476850 [T/G] JHU_1.48476849 1 48476850 [T/G] JHU_1.48477474 1 48477475 [A/G] rs12137714 1 48480638 [T/C] rs77734511 1 48480731 [T/C] rs72694321 1 48481515 [T/C] JHU_1.48482692 1 48482693 [T/C] JHU_1.48482985 1 48482986 [T/C] JHU_1.48484194 1 48484195 [T/C] 1:48484310-A-G 1 48484310 [A/G] rs2492791 1 48484327 [A/G] rs1760424 1 48485684 [T/C] JHU_1.48488052 1 48488053 [C/G] rs77029736 1 48493305 [A/G] rs11800635 1 48493434 [A/G] rs17104048 1 48494572 [A/C] rs6683262 1 48496014 [A/G] rs6588639 1 48496056 [A/G] rs117441907 1 48496862 [A/G] rs58198595 1 48498412 [T/C] rs722656 1 48500746 [T/C] rs74075356 1 48502015 [A/G] rs72900109 1 48503300 [T/C] rs748142 1 48509053 [T/C] rs6690390 1 48512650 [A/G] JHU_1.48520810 1 48520811 [T/G] JHU_1.48520862 1 48520863 [A/G] JHU_1.48521034 1 48521035 [A/G] JHU_1.48521149 1 48521150 [T/C] JHU_1.48521179 1 48521180 [C/G] JHU_1.48521187 1 48521188 [C/G] JHU_1.48521426 1 48521427 [T/C] JHU_1.48521477 1 48521478 [A/C] 1:48522038-C-T 1 48522038 [T/C] rs6679531 1 48524180 [T/C] rs79798246 1 48524935 [T/G] rs59269130 1 48524960 [A/G] rs11205439 1 48526339 [A/G] rs302681 1 48528242 [T/C] rs502819 1 48532672 [T/G] rs12408979 1 48533833 [A/G] rs76711278 1 48535292 [T/C] rs74994650 1 48536674 [T/C] JHU_1.48539297 1 48539298 [A/C] JHU_1.48539446 1 48539447 [T/G] JHU_1.48539669 1 48539670 [A/C] rs56394456 1 48539753 [G/C] JHU_1.48541742 1 48541743 [A/C] JHU_1.48542161 1 48542162 [A/G] rs143077693 1 48542516 [T/G] rs114353139 1 48542821 [A/C] rs638965 1 48546195 [T/C] rs78023429 1 48547186 [A/G] rs12036718 1 48549313 [A/G] rs75457438 1 48549552 [A/C] rs560004 1 48549673 [T/C] rs656828 1 48552504 [G/C] rs72900172 1 48554766 [T/G] JHU_1.48554941 1 48554942 [T/G] rs12140113 1 48558237 [T/C] rs1325962 1 48563794 [T/G] rs17468833 1 48564267 [T/C] JHU_1.48566083 1 48566084 [A/C] JHU_1.48566104 1 48566105 [A/C] rs17428691 1 48567117 [A/G] JHU_1.48567251 1 48567252 [A/G] rs12022876 1 48567686 [A/G] NR_026749 SKINT1L Silent rs59171817 1 48568162 [A/G] NR_026749 SKINT1L Silent rs17468972 1 48568400 [T/C] NR_026749 SKINT1L Silent JHU_1.48568931 1 48568932 [T/G] NR_026749 SKINT1L Silent rs2073293 1 48570133 [A/G] NR_026749 SKINT1L Silent rs77177817 1 48571608 [A/G] NR_026749 SKINT1L Silent JHU_1.48582090 1 48582091 [T/C] NR_026749 SKINT1L Silent rs214207 1 48586100 [A/G] NR_026749 SKINT1L Silent rs12074395 1 48586431 [T/C] NR_026749 SKINT1L Silent 1:48587810-A-G 1 48587810 [A/G] NR_026749 SKINT1L Silent rs214203 1 48588004 [T/C] NR_026749 SKINT1L Silent JHU_1.48589156 1 48589157 [T/C] NR_026749 SKINT1L Silent rs17104182 1 48594201 [T/C] NR_026749 SKINT1L EXON Silent JHU_1.48594769 1 48594770 [A/G] NR_026749 SKINT1L Silent rs143094574 1 48605623 [A/G] NR_026749 SKINT1L Silent rs79415882 1 48605718 [T/G] NR_026749 SKINT1L Silent rs11583288 1 48607809 [A/G] NR_026749 SKINT1L Silent JHU_1.48607808 1 48607809 [A/G] NR_026749 SKINT1L Silent rs2134477 1 48609038 [A/C] NR_026749 SKINT1L Silent JHU_1.48611627 1 48611628 [A/G] NR_026749 SKINT1L Silent rs76947973 1 48614780 [A/C] NR_026749 SKINT1L Silent rs12044066 1 48622095 [A/G] NR_026749 SKINT1L Silent rs76100890 1 48622737 [T/C] NR_026749 SKINT1L Silent rs112152053 1 48624881 [T/G] NR_026749 SKINT1L Silent rs17104211 1 48626845 [G/C] NR_026749 SKINT1L Silent rs74647174 1 48626853 [A/G] NR_026749 SKINT1L Silent rs10788882 1 48630438 [C/G] NR_026749 SKINT1L EXON Silent JHU_1.48641313 1 48641314 [A/G] NR_026749 SKINT1L Silent JHU_1.48641747 1 48641748 [A/G] NR_026749 SKINT1L Silent rs34501761 1 48643357 [A/G] NR_026749 SKINT1L Silent JHU_1.48644579 1 48644580 [A/G] NR_026749 SKINT1L Silent rs11205449 1 48647124 [T/G] NR_026749 SKINT1L Silent rs1361006 1 48648067 [A/C] NR_026749 SKINT1L EXON Silent rs76416948 1 48656203 [A/C] JHU_1.48666100 1 48666101 [A/T] rs72696309 1 48669585 [C/G] exm2268682 1 48672401 [T/C] rs1722710 1 48672401 [T/C] JHU_1.48673294 1 48673295 [T/C] rs139023031 1 48673895 [A/G] rs6658863 1 48680892 [T/C] rs10788883 1 48682034 [A/C] 1:48682745-G-A 1 48682745 [A/G] rs77063258 1 48683466 [T/A] rs1524732 1 48686096 [T/C] 1:48688436-CA 1 48688436 [A/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_P10T,Missense_P10T 1:48688488-CTGGACTCCAGAG-C 1 48688488 [D/I] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON exm57844 1 48688550 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V48I,Missense_V48I rs10788884 1 48690229 [A/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent exm57847 1 48690414 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_R61X,Nonsense_R61X 1:48690429-GA 1 48690429 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_G66S,Missense_G66S rs12139099 1 48691564 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent JHU_1.48693294 1 48693295 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent exm57849 1 48694523 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_I79T,Missense_I79T exm57855 1 48694570 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_G95S,Missense_G95S 1:48694570-GA 1 48694570 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_G95S,Missense_G95S exm57856 1 48694594 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_G103R,Missense_G103R exm57858 1 48694606 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V107I,Missense_V107I exm57860 1 48694618 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_E111K,Missense_E111K exm57861 1 48694627 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent 1:48694803-GA 1 48694803 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Silent,Missense_R123K exm57865 1 48694997 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V124I,Missense_V149I 1:48695058-GA 1 48695058 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_R144Q,Missense_R169Q indel.3349 1 48695060 [I/D] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON rs212989 1 48695081 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V152M,Missense_V177M exm57869 1 48695081 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V152M,Missense_V177M exm57876 1 48696362 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V199I,Missense_V224I exm57878 1 48697226 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_M207T,Missense_M232T exm57881 1 48697256 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_T217M,Missense_T242M var_1_48697274 1 48697274 [I/D] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON exm57882 1 48697277 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_A224V,Missense_A249V 1:48697629-GA 1 48697629 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V235M,Missense_V260M exm57891 1 48697713 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_R263W,Missense_R288W exm57896 1 48697733 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_I269M,Missense_I294M exm57900 1 48697766 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_W280X,Nonsense_W305X 1:48698061-CT 1 48698061 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_S307L,Missense_S332L exm57907 1 48698069 [A/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_S310R,Missense_S335R variant.3356 1 48698175 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent indel.3357 1 48699325 [I/D] NM_001011547,NM_001135181 SLC5A9,SLC5A9 exm57919 1 48699383 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_G364X,Nonsense_G389X rs10489600 1 48700325 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent 1:48701404-TG 1 48701404 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_L382R,Missense_L407R exm57921 1 48701424 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V389M,Missense_V414M 1:48701492-TG 1 48701492 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_I411M,Missense_I436M rs12130095 1 48701940 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent JHU_1.48703033 1 48703034 [C/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent chr1_48703361 1 48703361 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V435M,Missense_V460M exm57930 1 48703362 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V435G,Missense_V460G variant.3360 1 48703389 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_W444X,Nonsense_W469X exm57936 1 48703478 [G/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_L474V,Missense_L499V Variant12386 1 48705004 [D/I] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON exm57939 1 48705067 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_A512V,Missense_A537V exm57941 1 48705078 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_G516R,Missense_G541R exm57955 1 48708202 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_P584L,Missense_P609L exm57957 1 48708228 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_E593X,Nonsense_E618X 1:48708238-CA 1 48708238 [A/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_A596E,Missense_A621E 1:48708250-CT 1 48708250 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_A600V,Missense_A625V rs139728181 1 48709575 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent 1:48713021-TC 1 48713021 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_W618R,Missense_W643R 1:48713100-CA 1 48713100 [A/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_A644E,Missense_A669E rs986027 1 48713394 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Silent,Silent exm2273324 1 48713394 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Silent,Silent rs138090028 1 48713615 [G/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Silent,Silent 1:48714198-G-A 1 48714198 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Silent,Silent JHU_1.48717926 1 48717927 [A/G] rs212964 1 48721158 [A/G] JHU_1.48722687 1 48722688 [T/A] rs116663101 1 48723877 [A/C] rs149067348 1 48728396 [A/G] rs75990260 1 48728443 [T/C] rs114311766 1 48729207 [T/C] JHU_1.48729920 1 48729921 [A/G] 1:48731078-A-C 1 48731078 [A/C] rs76729011 1 48737387 [A/C] JHU_1.48757649 1 48757650 [A/G] rs6684996 1 48758458 [T/C] rs114949334 1 48760698 [T/C] JHU_1.48762835 1 48762836 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Silent,Silent,Silent variant.3368 1 48764477 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Nonsense_R459X,Nonsense_R445X,Nonsense_R443X exm57986 1 48764525 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_G443S,Missense_G429S,Missense_G427S rs59079079 1 48765453 [T/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs6666372 1 48765945 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent 1:48768421-A-C 1 48768421 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent newrs150721160 1 48771458 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent 1:48771494-AC 1 48771494 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_C417W,Missense_C403W,Missense_C401W rs112008608 1 48772202 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs145643325 1 48798041 [T/A] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs11205475 1 48802740 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent JHU_1.48803185 1 48803186 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent 1:48821359-GT 1 48821359 [T/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_H393N,Missense_H379N,Silent rs1877720 1 48824407 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent 1:48825331-CT 1 48825331 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_V341I,Missense_V327I,Missense_V341I exm57998 1 48825355 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_R333W,Missense_R319W,Missense_R333W 1:48825402-AG 1 48825402 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_L317S,Missense_L303S,Missense_L317S exm58002 1 48825442 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_V304F,Missense_V290F,Missense_V304F rs183812561 1 48825776 [G/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs1877719 1 48828015 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs1338313 1 48836942 [T/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs12145298 1 48839644 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent 1:48850997-CT 1 48850997 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_R298Q,Missense_R284Q,Missense_R298Q JHU_1.48857734 1 48857735 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs151300766 1 48858671 [C/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs10158605 1 48859681 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent exm58010 1 48861025 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_V261A,Missense_V247A,Missense_V261A exm58011 1 48865023 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_H260Q,Missense_H246Q,Missense_H260Q 1:48865099-CT 1 48865099 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_R235Q,Missense_R221Q,Missense_R235Q exm58018 1 48865121 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_E228K,Missense_E214K,Missense_E228K 1:48869493-GA 1 48869493 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_S156L,Missense_S142L,Missense_S156L variant.3375 1 48877225 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Nonsense_R106X,Nonsense_R92X,Nonsense_R106X exm58039-other 1 48877259 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Synonymous_V94V,Missense_L80F,Synonymous_V94V 1:48878782-CA 1 48878782 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_V94L,Silent,Missense_V94L rs1416048 1 48882926 [A/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent JHU_1.48891305 1 48891306 [T/A] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs72895168 1 48891306 [T/A] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs3767621 1 48891957 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent JHU_1.48900368 1 48900369 [T/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent JHU_1.48901935 1 48901936 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent JHU_1.48902911 1 48902912 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent JHU_1.48903472 1 48903473 [A/T] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs72679341 1 48912548 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent exm58047 1 48918698 [C/G] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_L53V,Missense_L53V,Missense_L53V 1:48918707-TC 1 48918707 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Missense_T50A,Missense_T50A,Missense_T50A JHU_1.48920302 1 48920303 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs2787873 1 48932488 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent rs150350379 1 48937155 [T/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 Silent,Silent,Silent 1:48937641-CA 1 48937641 [A/C] NM_019073,NM_001286239,NM_001286238 SPATA6,SPATA6,SPATA6 EXON Nonsense_E14X,Nonsense_E14X,Nonsense_E14X rs77722745 1 48943562 [T/C] rs147245864 1 48943737 [T/C] JHU_1.48944261 1 48944262 [T/C] rs2787875 1 48946572 [A/C] rs11205493 1 48946897 [A/G] rs2798114 1 48947883 [A/C] rs12754626 1 48948509 [T/G] rs11576464 1 48950354 [C/G] rs17104408 1 48950548 [T/C] rs2253233 1 48954476 [T/C] JHU_1.48957166 1 48957167 [T/C] rs2798105 1 48961903 [A/G] rs2798103 1 48965737 [A/G] rs2803252 1 48966113 [T/G] JHU_1.48970549 1 48970550 [A/T] rs1343124 1 48972810 [T/C] JHU_1.48976151 1 48976152 [G/C] rs139675304 1 48977516 [C/G] rs11205499 1 48977584 [A/G] JHU_1.48977954 1 48977955 [T/C] JHU_1.48978514 1 48978515 [T/C] rs1418952 1 48978515 [T/C] JHU_1.48978743 1 48978744 [C/G] rs2354463 1 48986545 [A/G] rs12722731 1 48988124 [T/C] JHU_1.48990523 1 48990524 [T/G] JHU_1.48990524 1 48990525 [T/G] rs12127061 1 48991061 [T/C] rs78118621 1 48994801 [C/G] rs2798119 1 48996065 [T/C] rs12143385 1 48996673 [A/C] JHU_1.48996876 1 48996877 [T/C] rs4926741 1 48996877 [T/C] JHU_1.48996880 1 48996881 [T/C] rs2246105 1 48998361 [T/C] rs2798111 1 48999555 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Silent,Silent,Silent,Silent,Silent exm2268886 1 49002721 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49002770 1 49002771 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm58053 1 49005351 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_V455M,Missense_V443M,Silent,Missense_V455M,Missense_V443M rs2354468 1 49006567 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12117188 1 49010442 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs56292042 1 49011232 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs67966936 1 49011891 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49012571 1 49012572 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs78652184 1 49012696 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12086810 1 49017514 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49018432 1 49018433 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49018604 1 49018605 [C/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49019321 1 49019322 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2803267 1 49019793 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2798094 1 49021458 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2803268 1 49024709 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12410980 1 49024774 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11205506 1 49025436 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2803270 1 49031238 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12146114 1 49034264 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49035088 1 49035089 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2798095 1 49036512 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1539528 1 49037134 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs117570487 1 49038043 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49038071 1 49038072 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs61772810 1 49038890 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs72679370 1 49039589 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs75914892 1 49040091 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2798125 1 49040384 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs115166323 1 49042103 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2803273 1 49042349 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49045607 1 49045608 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49052185 1 49052186 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2627754 1 49052263 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49052630-CT 1 49052630 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49052680-TG 1 49052680 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_E433D,Missense_E421D,Silent,Missense_E433D,Missense_E421D rs12074072 1 49054581 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm58075 1 49056595 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_M350I,Missense_M338I,Silent,Missense_M350I,Missense_M338I 1:49056609-TC 1 49056609 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_M346V,Missense_M334V,Silent,Missense_M346V,Missense_M334V rs189891939 1 49056636 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_I337F,Missense_I325F,Silent,Missense_I337F,Missense_I325F rs7543402 1 49056695 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49056771 1 49056772 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49057674 1 49057675 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs72679389 1 49061847 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs319980 1 49066644 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs34122880 1 49066956 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12131047 1 49067348 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49068749 1 49068750 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49070365 1 49070366 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs6701767 1 49070646 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs369098909 1 49072320 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs191189 1 49072635 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs191190 1 49074645 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320018 1 49075971 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs4926745 1 49077356 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320025 1 49080074 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10888608 1 49083071 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49084678 1 49084679 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49084793 1 49084794 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs6672019 1 49086239 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12566140 1 49087404 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49088037 1 49088038 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs74714373 1 49089069 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320035 1 49089197 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49090567 1 49090568 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs115438582 1 49095685 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs143905757 1 49096350 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs76181360 1 49096993 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent indel.3377 1 49100192 [I/D] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON rs319986 1 49102047 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs7535727 1 49106290 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49107155 1 49107156 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs7517510 1 49107979 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs393994 1 49108745 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs319952 1 49113622 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs114881333 1 49118537 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs200088334 1 49119052 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_A278T,Missense_A266T,Silent,Missense_A278T,Missense_A266T exm58086 1 49119052 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_A278T,Missense_A266T,Silent,Missense_A278T,Missense_A266T 1:49119076-GA 1 49119076 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_R270W,Missense_R258W,Silent,Missense_R270W,Missense_R258W 1:49119093-GT 1 49119093 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_P264H,Missense_P252H,Silent,Missense_P264H,Missense_P252H variant.3378 1 49119125 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs114362288 1 49119670 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs115847703 1 49119849 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49119858 1 49119859 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs7556311 1 49123567 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs319999 1 49123707 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320003 1 49126778 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320004 1 49127186 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm58098 1 49128902 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_E228K,Missense_E216K,Silent,Missense_E228K,Missense_E216K exm58100 1 49128904 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_R227Q,Missense_R215Q,Silent,Missense_R227Q,Missense_R215Q rs72681035 1 49130918 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm2264834 1 49133886 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49134581 1 49134582 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs7532350 1 49141251 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs60151408 1 49141536 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs76521728 1 49142627 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs79414475 1 49143338 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49145432 1 49145433 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12729782 1 49146197 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs319958 1 49146531 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49149168 1 49149169 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs112523854 1 49151381 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs59829976 1 49151846 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49153484 1 49153485 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs72902832 1 49158486 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49159857 1 49159858 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs6687965 1 49161554 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs6695778 1 49164688 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs4926747 1 49165860 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs72902849 1 49166284 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs60827806 1 49167472 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320041 1 49169795 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49170439 1 49170440 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs140893332 1 49171454 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320050 1 49174405 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49176628 1 49176629 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49176633 1 49176634 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49176999 1 49177000 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49177000 1 49177001 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320056 1 49177545 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs320060 1 49178750 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1385156 1 49179857 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49181258 1 49181259 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49184000 1 49184001 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49184355 1 49184356 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49184587 1 49184588 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49184729 1 49184730 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12121925 1 49185833 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs78396747 1 49187434 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49188363 1 49188364 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49188635 1 49188636 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs4926528 1 49189775 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11205529 1 49190486 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs58848747 1 49192088 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49193692-GA 1 49193692 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Q209X,Nonsense_Q209X,Nonsense_Q378X,Nonsense_Q293X,Nonsense_Q209X rs80149480 1 49194840 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs114137518 1 49194947 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10888618 1 49196334 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49198247 1 49198248 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49200028 1 49200029 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49200270 1 49200271 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49200406 1 49200407 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49201412 1 49201413 [C/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent Variant12387 1 49201967 [I/D] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON 1:49201976-GT 1 49201976 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T179K,Missense_T179K,Missense_T348K,Missense_T263K,Missense_T179K rs4926749 1 49203349 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs923029 1 49209626 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1473455 1 49210570 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10888620 1 49212024 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49212922 1 49212923 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49213874 1 49213875 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49216118 1 49216119 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49216397 1 49216398 [C/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1484412 1 49219384 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs971547 1 49221397 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1128934 1 49224584 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_R76R,Synonymous_R76R,Synonymous_R245R,Synonymous_R160R,Synonymous_R76R exm58126 1 49224596 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V72M,Missense_V72M,Missense_V241M,Missense_V156M,Missense_V72M 1:49224629-CT 1 49224629 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_E61K,Missense_E61K,Missense_E230K,Missense_E145K,Missense_E61K 1:49224650-CT 1 49224650 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A54T,Missense_A54T,Missense_A223T,Missense_A138T,Missense_A54T 1:49224701-GA 1 49224701 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R37W,Missense_R37W,Missense_R206W,Missense_R121W,Missense_R37W exm58131 1 49224725 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R29C,Missense_R29C,Missense_R198C,Missense_R113C,Missense_R29C rs142391930 1 49225443 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:49227073-TC 1 49227073 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_H99R,Missense_H14R,Silent JHU_1.49228285 1 49228286 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72904857 1 49230480 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1316396 1 49232075 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent chr1:49234376 1 49234376 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs139236426 1 49236821 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49237532 1 49237533 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1934379 1 49241421 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49241596 1 49241597 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_146232,NM_001349794,NM_001349793,NM_024603,NM_001349795,NM_001302082 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,BEND5,BEND5,BEND5,BEND5,BEND5,BEND5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4926754 1 49242966 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs113596216 1 49247730 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1934406 1 49260879 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11205542 1 49262542 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49269517 1 49269518 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1934397 1 49270280 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2355686 1 49279412 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm2268887 1 49279412 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49279592-A-T 1 49279592 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11810411 1 49289216 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49291728 1 49291729 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49292635 1 49292636 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs141472064 1 49302147 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49307071 1 49307072 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12062167 1 49310059 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs77569206 1 49311147 [C/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49313251 1 49313252 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10788896 1 49317239 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs5017079 1 49336456 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49350041 1 49350042 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2298200 1 49361400 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3121525 1 49361990 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3127565 1 49365708 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3121532 1 49369206 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs76643036 1 49373495 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3121537 1 49374736 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49376328 1 49376329 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs17105150 1 49378281 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49386873 1 49386874 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs149608529 1 49395674 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49395819 1 49395820 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs6668965 1 49403878 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs74541585 1 49405317 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs17105280 1 49406547 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10493140 1 49407295 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49407984 1 49407985 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49407988 1 49407989 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49409412 1 49409413 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49409933 1 49409934 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12091032 1 49416462 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49418089 1 49418090 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49431023 1 49431024 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2798696 1 49437487 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm-rs3127553 1 49438005 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49438539 1 49438540 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs80252829 1 49441445 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49441698 1 49441699 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49442703 1 49442704 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1543562 1 49454215 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3118220 1 49461406 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs149313906 1 49464870 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49483095 1 49483096 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs80108146 1 49483336 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs187239357 1 49485540 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49485685 1 49485686 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49486980 1 49486981 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49488236 1 49488237 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs72682960 1 49489918 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49491134-A-T 1 49491134 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs17105420 1 49500124 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49500930 1 49500931 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49503143 1 49503144 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49504959 1 49504960 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs200395475 1 49511278 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_R203Q,Missense_R191Q,Silent,Missense_R203Q,Missense_R191Q exm58145 1 49511311 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_S192N,Missense_S180N,Silent,Missense_S192N,Missense_S180N rs139433188 1 49518173 [C/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs144575847 1 49519339 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs74447655 1 49519565 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10888647 1 49527451 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs148169769 1 49543614 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs114755594 1 49559695 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs145556904 1 49569664 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs140029789 1 49571369 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs6687090 1 49580287 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49580410 1 49580411 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs590503 1 49581006 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm2264835 1 49589847 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs657452 1 49589847 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12040639 1 49597838 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49605180 1 49605181 [C/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49613568 1 49613569 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs72683001 1 49613664 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs185630137 1 49617414 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs147518144 1 49619219 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1924645 1 49621403 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs513360 1 49627502 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs117161908 1 49629649 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs141890600 1 49630678 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49637265-G-A 1 49637265 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs113590447 1 49642871 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12032102 1 49646893 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs182241340 1 49650272 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49652766 1 49652767 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs147118080 1 49654185 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs137969241 1 49662687 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11591141 1 49664304 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent kgp2021123 1 49665640 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs355205 1 49672039 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49679194-T-C 1 49679194 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs116037604 1 49685637 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs145281740 1 49687881 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs74858806 1 49692886 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49692896-C-A 1 49692896 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs74550995 1 49694095 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49695459-T-C 1 49695459 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs75826323 1 49697330 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs145430768 1 49699305 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49703185 1 49703186 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs116738856 1 49715153 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs185152872 1 49728982 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_125988 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,LOC101929721 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49734649 1 49734650 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_125988 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,LOC101929721 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49737733 1 49737734 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49738649 1 49738650 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49738937 1 49738938 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs190558473 1 49740283 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49743592 1 49743593 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49754505 1 49754506 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs75546063 1 49757185 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49760909-T-C 1 49760909 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49762241 1 49762242 [C/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1431638 1 49762418 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49763878 1 49763879 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs150590898 1 49764022 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs241501 1 49765438 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49771038 1 49771039 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs114889390 1 49782964 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49783480-T-C 1 49783480 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs77859632 1 49787221 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs75201189 1 49790574 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs241467 1 49799987 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs241468 1 49800692 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs144392660 1 49802914 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49818223 1 49818224 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49824089 1 49824090 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs140176419 1 49824294 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs77538045 1 49825847 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs7531656 1 49828663 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs138732813 1 49833130 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:49835389-A-G 1 49835389 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12120453 1 49840870 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49843538 1 49843539 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs148423268 1 49844632 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs78505290 1 49849318 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49857234 1 49857235 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs192747738 1 49857692 [G/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs3957 1 49857911 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs1338218 1 49858165 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs1577969 1 49865295 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs34532618 1 49870109 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs61783596 1 49872879 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49873017 1 49873018 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs147508083 1 49882162 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49887242 1 49887243 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs143954675 1 49889937 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs115857441 1 49891614 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs883913 1 49894407 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs116314125 1 49898534 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs75097551 1 49898674 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs1177505 1 49900884 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs12037603 1 49902421 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49907719 1 49907720 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49912518 1 49912519 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs11583894 1 49918216 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent 1:49926552-A-T 1 49926552 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent rs79113997 1 49936419 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.49936868 1 49936869 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785,NR_046839 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4,AGBL4-IT1 Silent,Silent,Silent,Silent,Silent,Silent 1:49938871-G-T 1 49938871 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1933271 1 49949006 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1185222 1 49958961 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs368895196 1 49968230 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12240044 1 49990335 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49994406 1 49994407 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs75311286 1 49995544 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.49995892 1 49995893 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs74078142 1 50005913 [C/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs118161855 1 50015983 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs4926816 1 50019849 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50021138 1 50021139 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs2178085 1 50023956 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1999875 1 50049490 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs17105712 1 50052684 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11587574 1 50053885 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs75679461 1 50055870 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs191084717 1 50067155 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50069242 1 50069243 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50077050 1 50077051 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50081188 1 50081189 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10888663 1 50081573 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50089675 1 50089676 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs80166574 1 50092412 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent kgp12141632 1 50096292 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent kgp6584833 1 50104642 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50104970 1 50104971 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12070579 1 50106423 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12070722 1 50108751 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50115680 1 50115681 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs79130739 1 50134767 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs72686729 1 50135100 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:50135966-G-A 1 50135966 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs375214469 1 50161723 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10489864 1 50161927 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:50163035-GA 1 50163035 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_R78C,Missense_R78C,Silent,Missense_R78C,Missense_R78C chr1_50163098 1 50163098 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_R57W,Missense_R57W,Silent,Missense_R57W,Missense_R57W rs6660206 1 50189321 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs1474910 1 50192150 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs191168275 1 50193574 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50201797 1 50201798 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs140876853 1 50210902 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs140918456 1 50215594 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50228487 1 50228488 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50242104 1 50242105 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs3899856 1 50243854 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs6695041 1 50245509 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10449745 1 50246030 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs146923149 1 50250814 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50259972 1 50259973 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs72686750 1 50264732 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50276716 1 50276717 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12088383 1 50280801 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs143995776 1 50282517 [T/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs75395401 1 50304560 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50306540 1 50306541 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50315067 1 50315068 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50315177 1 50315178 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50315632 1 50315633 [T/A] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:50317124-CA 1 50317124 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_G34V,Missense_G34V,Silent,Missense_G34V,Missense_G34V rs182850756 1 50317124 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 EXON Missense_G34V,Missense_G34V,Silent,Missense_G34V,Missense_G34V JHU_1.50319196 1 50319197 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10736388 1 50335528 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs192752332 1 50339083 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12091851 1 50353009 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs10888672 1 50359987 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12067197 1 50366482 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50369584 1 50369585 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs12403905 1 50372032 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50378178 1 50378179 [C/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50388847 1 50388848 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent exm2265007 1 50416930 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs7518987 1 50426542 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50446024 1 50446025 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent 1:50449878-T-A 1 50449878 [A/T] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50453389 1 50453390 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs11576945 1 50456837 [T/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent JHU_1.50467295 1 50467296 [A/G] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent kgp3852044 1 50487846 [A/C] NM_001323573,NM_001323575,NR_136623,NM_001323574,NM_032785 AGBL4,AGBL4,AGBL4,AGBL4,AGBL4 Silent,Silent,Silent,Silent,Silent rs184359248 1 50495019 [A/T] JHU_1.50497262 1 50497263 [A/G] chr1_50513850 1 50513850 [A/G] NM_001324208,NM_001144777 ELAVL4,ELAVL4 EXON Missense_N5S,Missense_N5S JHU_1.50524639 1 50524640 [T/C] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent JHU_1.50529558 1 50529559 [A/G] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent JHU_1.50531483 1 50531484 [A/T] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent JHU_1.50531824 1 50531825 [T/C] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent rs4926547 1 50546810 [T/C] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent JHU_1.50547253 1 50547254 [A/T] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent rs11583200 1 50559820 [T/C] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent rs11205682 1 50567676 [T/C] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent rs76220093 1 50569035 [A/G] NM_001324208,NM_001144777 ELAVL4,ELAVL4 Silent,Silent exm1824178 1 50572019 [T/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775 ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Silent,Silent,Silent,Missense_L24R rs4336897 1 50573260 [T/A] NM_001324208,NM_001144777,NM_001144776,NM_001144775 ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent rs2480677 1 50577654 [T/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2480693 1 50588665 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2480692 1 50588843 [T/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9436444 1 50589798 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.50592600 1 50592601 [G/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17105917 1 50593241 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7532622 1 50594585 [A/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.50595185 1 50595186 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.50596686 1 50596687 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.50596843 1 50596844 [A/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4307603 1 50598368 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6588376 1 50602495 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs190595657 1 50603062 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3902720 1 50605337 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12092053 1 50607029 [T/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm58161 1 50610767 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_V53I,Missense_V53I,Missense_V50I,Missense_V86I,Missense_V49I,Missense_V49I,Missense_V50I,Missense_V50I,Missense_V50I,Missense_V55I,Missense_V55I,Missense_V55I,Silent,Missense_V55I,Missense_V49I rs76818094 1 50613758 [T/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4926844 1 50613772 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs114179358 1 50618767 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs113775214 1 50631975 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs78331461 1 50641656 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm58164 1 50642851 [A/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324216,NM_001324217,NM_001324215,NM_001294348,NR_136725,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_T117N,Missense_T117N,Missense_T114N,Missense_T150N,Missense_T113N,Missense_T113N,Missense_T114N,Missense_T114N,Missense_T114N,Missense_T119N,Missense_T119N,Missense_T119N,Silent,Missense_T119N,Missense_T113N rs3001636 1 50647026 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.50649136 1 50649137 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3009113 1 50649699 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11580961 1 50650199 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs71651139 1 50651194 [A/T] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74816897 1 50653043 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.50655000 1 50655001 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2275447 1 50661397 [A/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_L228I,Missense_L228I,Missense_L225I,Missense_L261I,Missense_L224I,Missense_L224I,Missense_L225I,Missense_L225I,Missense_L230I,Missense_L230I,Missense_L230I,Missense_L224I rs77226759 1 50661583 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17381033 1 50661840 [A/G] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2480681 1 50662648 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:50666503-CA 1 50666503 [A/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_P269T,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P266T,Silent,Silent,Missense_P271T,Silent rs2494876 1 50666515 [T/C] NM_001324208,NM_001144777,NM_001144776,NM_001144775,NM_001324212,NM_001324209,NM_001144774,NM_021952,NM_001324215,NM_001294348,NM_001324213,NM_001324214 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_P273S,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P270S,Silent,Silent,Missense_P275S,Silent rs117703364 1 50670533 [T/C] JHU_1.50673574 1 50673575 [A/G] rs2841867 1 50674118 [C/G] rs2480687 1 50679059 [A/G] rs114864570 1 50682202 [T/C] exm2268888 1 50684153 [T/C] rs2494881 1 50684153 [T/C] JHU_1.50687628 1 50687629 [T/A] rs3001652 1 50688654 [A/G] rs113586574 1 50692781 [A/G] JHU_1.50698399 1 50698400 [A/G] rs76596133 1 50698760 [A/G] rs149946804 1 50702776 [T/G] rs80018036 1 50711363 [A/C] rs72894917 1 50719912 [T/G] rs3001644 1 50722989 [A/G] 1:50731119-T-C 1 50731119 [T/C] rs1502857 1 50740075 [T/G] rs61784232 1 50740602 [T/C] rs138426592 1 50743364 [C/G] JHU_1.50744545 1 50744546 [A/G] rs113801687 1 50744634 [A/G] JHU_1.50745484 1 50745485 [A/G] JHU_1.50749056 1 50749057 [A/C] rs77653135 1 50749057 [A/C] rs143835476 1 50756375 [T/C] rs2860390 1 50763945 [A/G] rs57637838 1 50765339 [T/G] rs1875635 1 50765982 [A/G] JHU_1.50768156 1 50768157 [A/G] rs11205700 1 50768157 [A/G] rs78550921 1 50774348 [A/T] JHU_1.50777696 1 50777697 [T/C] JHU_1.50779204 1 50779205 [A/G] JHU_1.50788456 1 50788457 [T/C] rs79515901 1 50789813 [T/C] JHU_1.50791464 1 50791465 [T/C] rs12566635 1 50791465 [T/C] rs114704557 1 50798564 [T/G] rs4491095 1 50802855 [T/C] rs74894095 1 50802881 [T/C] rs6657279 1 50808295 [A/G] rs3012088 1 50809974 [T/G] rs1110220 1 50815397 [A/G] JHU_1.50818819 1 50818820 [A/G] JHU_1.50819922 1 50819923 [T/C] JHU_1.50824280 1 50824281 [T/C] rs183617628 1 50833534 [A/G] rs11205716 1 50835606 [A/G] rs72637988 1 50837157 [T/C] rs6660621 1 50838990 [T/C] rs140850326 1 50846033 [I/D] JHU_1.50851456 1 50851457 [A/G] exm-rs2055491 1 50852769 [T/C] rs2653884 1 50858087 [A/G] rs7413619 1 50863454 [A/G] 1:50864402-T-C 1 50864402 [T/C] JHU_1.50864491 1 50864492 [A/G] rs143182736 1 50871449 [T/C] rs1502856 1 50871847 [A/G] 1:50873620-C-A 1 50873620 [A/C] rs2784143 1 50874830 [T/C] rs139345895 1 50875935 [T/C] 1:50880364-C-T 1 50880364 [T/C] JHU_1.50880617 1 50880618 [T/C] 1:50884410-GA 1 50884410 [A/G] NM_032110 DMRTA2 EXON Missense_A519V 1:50884411-CA 1 50884411 [A/C] NM_032110 DMRTA2 EXON Missense_A519S exm2252034 1 50885075 [A/T] NM_032110 DMRTA2 EXON Synonymous_G297G 1:50885242-CT 1 50885242 [T/C] NM_032110 DMRTA2 EXON Missense_G242S rs72690461 1 50885585 [T/C] NM_032110 DMRTA2 Silent JHU_1.50886222 1 50886223 [T/A] NM_032110 DMRTA2 Silent rs1278532 1 50886340 [G/C] NM_032110 DMRTA2 Silent 1:50886731-CT 1 50886731 [T/C] NM_032110 DMRTA2 EXON Missense_V160M 1:50886928-CA 1 50886928 [A/C] NM_032110 DMRTA2 EXON Missense_C94F rs148955563 1 50889151 [T/C] rs184092506 1 50893793 [A/G] rs17382304 1 50901078 [T/C] rs4381241 1 50907438 [T/C] NM_007051 FAF1 Silent rs17106184 1 50909985 [A/G] NM_007051 FAF1 Silent rs79170582 1 50910436 [T/C] NM_007051 FAF1 Silent rs718257 1 50911157 [A/G] NM_007051 FAF1 Silent JHU_1.50912629 1 50912630 [T/C] NM_007051 FAF1 Silent JHU_1.50917659 1 50917660 [T/C] NM_007051 FAF1 Silent 1:50929341-A-G 1 50929341 [A/G] NM_007051 FAF1 Silent rs140912765 1 50931196 [T/G] NM_007051 FAF1 Silent rs148222799 1 50932603 [A/C] NM_007051 FAF1 Silent rs17106219 1 50935031 [T/C] NM_007051 FAF1 Silent rs3827730 1 50937848 [T/C] NM_007051 FAF1 Silent rs3789575 1 50937952 [T/C] NM_007051 FAF1 Silent rs17106230 1 50939762 [A/G] NM_007051 FAF1 Silent variant.3383 1 50941136 [A/G] NM_007051 FAF1 EXON Synonymous_D623D JHU_1.50946382 1 50946383 [T/C] NM_007051 FAF1 Silent rs140117211 1 50950330 [T/G] NM_007051 FAF1 Silent rs138714984 1 50953125 [A/C] NM_007051 FAF1 Silent rs7535374 1 50966897 [A/G] NM_007051 FAF1 Silent rs1149793 1 50968306 [G/C] NM_007051 FAF1 Silent rs10493149 1 50970475 [A/G] NM_007051 FAF1 Silent kgp6738702 1 50972015 [A/G] NM_007051 FAF1 Silent rs1149795 1 50972564 [A/G] NM_007051 FAF1 Silent rs117776559 1 50979613 [A/C] NM_007051 FAF1 Silent 1:50988490-C-T 1 50988490 [T/C] NM_007051 FAF1 Silent 1:50998458-A-T 1 50998458 [T/A] NM_007051 FAF1 Silent rs78646566 1 51000372 [T/C] NM_007051 FAF1 Silent JHU_1.51002800 1 51002801 [T/C] NM_007051 FAF1 Silent 1:51005341-TG 1 51005341 [T/G] NM_007051 FAF1 EXON Missense_Q443P 1:51005365-AC 1 51005365 [A/C] NM_007051 FAF1 EXON Missense_V435G JHU_1.51027553 1 51027554 [A/G] NM_007051 FAF1 Silent rs116273703 1 51028154 [A/G] NM_007051 FAF1 Silent rs140559835 1 51034340 [A/G] NM_007051 FAF1 Silent rs17383290 1 51039300 [A/G] NM_007051 FAF1 Silent JHU_1.51040478 1 51040479 [T/C] NM_007051 FAF1 Silent rs146298321 1 51047692 [T/C] NM_007051 FAF1 Silent variant.3384 1 51048290 [A/C] NM_007051 FAF1 EXON Missense_D371E 1:51050474-CT 1 51050474 [T/C] NM_007051 FAF1 EXON Missense_D284N rs115409586 1 51054477 [A/G] NM_007051 FAF1 Silent JHU_1.51054569 1 51054570 [A/C] NM_007051 FAF1 Silent 1:51057535-C-T 1 51057535 [T/C] NM_007051 FAF1 Silent rs12082106 1 51061184 [T/C] NM_007051 FAF1 Silent exm58267 1 51061810 [A/G] NM_007051 FAF1 EXON Missense_R275W kgp5319466 1 51063131 [T/C] NM_007051 FAF1 Silent rs12063643 1 51066887 [T/C] NM_007051 FAF1 Silent rs79339491 1 51068500 [T/C] NM_007051 FAF1 Silent rs139473083 1 51068872 [T/C] NM_007051 FAF1 Silent rs117508236 1 51072863 [A/G] NM_007051 FAF1 Silent rs78781302 1 51091278 [T/G] NM_007051 FAF1 Silent JHU_1.51100996 1 51100997 [A/C] NM_007051 FAF1 Silent rs10888702 1 51103286 [T/G] NM_007051 FAF1 Silent 1:51103382-C-T 1 51103382 [T/C] NM_007051 FAF1 Silent rs190984376 1 51110133 [T/C] NM_007051 FAF1 Silent 1:51113659-A-G 1 51113659 [A/G] NM_007051 FAF1 Silent JHU_1.51118856 1 51118857 [A/C] NM_007051 FAF1 Silent rs77549435 1 51125211 [G/C] NM_007051 FAF1 Silent rs188227883 1 51128010 [A/C] NM_007051 FAF1 Silent JHU_1.51130190 1 51130191 [A/G] NM_007051 FAF1 Silent rs148370934 1 51134032 [T/C] NM_007051 FAF1 Silent rs12759925 1 51134336 [A/G] NM_007051 FAF1 Silent rs116982413 1 51136253 [T/A] NM_007051 FAF1 Silent JHU_1.51142555 1 51142556 [T/C] NM_007051 FAF1 Silent rs79980292 1 51147801 [T/G] NM_007051 FAF1 Silent JHU_1.51148710 1 51148711 [A/G] NM_007051 FAF1 Silent rs183648100 1 51152444 [T/C] NM_007051 FAF1 Silent JHU_1.51157914 1 51157915 [C/G] NM_007051 FAF1 Silent rs143436728 1 51159634 [T/A] NM_007051 FAF1 Silent JHU_1.51159665 1 51159666 [T/C] NM_007051 FAF1 Silent JHU_1.51160721 1 51160722 [A/G] NM_007051 FAF1 Silent JHU_1.51169269 1 51169270 [A/C] NM_007051 FAF1 Silent rs11205760 1 51174330 [T/C] NM_007051 FAF1 Silent rs17384533 1 51180660 [A/G] NM_007051 FAF1 Silent rs6672112 1 51188594 [T/C] NM_007051 FAF1 Silent rs149471119 1 51190594 [T/G] NM_007051 FAF1 Silent JHU_1.51191136 1 51191137 [A/T] NM_007051 FAF1 Silent JHU_1.51191957 1 51191958 [T/C] NM_007051 FAF1 Silent exm58279 1 51204557 [A/G] NM_007051 FAF1 EXON Missense_P177S exm58284 1 51210400 [T/G] NM_007051 FAF1 EXON Missense_K139Q rs146184283 1 51214951 [A/C] NM_007051 FAF1 Silent rs11205768 1 51220127 [T/C] NM_007051 FAF1 Silent JHU_1.51243775 1 51243776 [T/C] NM_007051 FAF1 Silent variant.3387 1 51253786 [A/G] NM_007051 FAF1 EXON Nonsense_R85X 1:51253794-TGAA-T 1 51253794 [I/D] NM_007051 FAF1 EXON kgp4369223 1 51255320 [T/C] NM_007051 FAF1 Silent rs17384759 1 51255686 [A/G] NM_007051 FAF1 Silent rs7522611 1 51257608 [T/C] NM_007051 FAF1 Silent JHU_1.51261730 1 51261731 [A/C] NM_007051 FAF1 Silent JHU_1.51267664 1 51267665 [A/C] NM_007051 FAF1 Silent rs144992818 1 51271299 [A/T] NM_007051 FAF1 Silent rs74942898 1 51273607 [T/C] NM_007051 FAF1 Silent JHU_1.51281283 1 51281284 [A/G] NM_007051 FAF1 Silent rs114040389 1 51295487 [T/C] NM_007051 FAF1 Silent rs143181568 1 51306168 [A/G] NM_007051 FAF1 Silent exm58296 1 51323615 [T/G] NM_007051 FAF1 EXON Missense_N34H 1:51323642-CT 1 51323642 [T/C] NM_007051 FAF1 EXON Missense_E25K rs190825463 1 51328542 [T/C] NM_007051 FAF1 Silent rs12028663 1 51345719 [T/C] NM_007051 FAF1 Silent rs12088617 1 51347213 [T/G] NM_007051 FAF1 Silent JHU_1.51355822 1 51355823 [A/G] NM_007051 FAF1 Silent rs7525655 1 51368512 [T/C] NM_007051 FAF1 Silent rs12118519 1 51370117 [A/G] NM_007051 FAF1 Silent kgp8747293 1 51379945 [A/G] NM_007051 FAF1 Silent JHU_1.51381593 1 51381594 [T/C] NM_007051 FAF1 Silent JHU_1.51401418 1 51401419 [T/C] NM_007051 FAF1 Silent JHU_1.51422044 1 51422045 [A/G] NM_007051 FAF1 Silent rs150863845 1 51425059 [A/G] NM_007051 FAF1 Silent 1:51425459-TC 1 51425459 [T/C] NM_007051 FAF1 EXON Missense_M9V rs190798389 1 51426191 [A/G] exm58311 1 51439754 [T/G] NM_001262,NM_078626 CDKN2C,CDKN2C EXON Missense_L107V,Missense_L107V rs1043141 1 51439777 [T/C] NM_001262,NM_078626 CDKN2C,CDKN2C EXON Synonymous_G114G,Synonymous_G114G exm58313 1 51439785 [A/G] NM_001262,NM_078626 CDKN2C,CDKN2C EXON Missense_R117Q,Missense_R117Q 1:51440093-C-T 1 51440093 [T/C] NM_001262,NM_078626 CDKN2C,CDKN2C EXON Silent,Silent rs192596895 1 51443957 [G/C] rs12136012 1 51457291 [T/G] JHU_1.51457290 1 51457291 [T/G] JHU_1.51459101 1 51459102 [A/G] rs11588271 1 51470242 [A/G] exm2264837 1 51470242 [A/G] rs3813634 1 51475488 [A/G] rs13376700 1 51477643 [T/A] rs11205801 1 51484626 [T/G] rs116760613 1 51490709 [A/G] rs77378000 1 51496309 [A/G] 1:51509354-A-C 1 51509354 [A/C] JHU_1.51510824 1 51510825 [A/G] rs111866071 1 51514185 [T/A] 1:51517920-T-C 1 51517920 [T/C] rs148641777 1 51533559 [A/C] rs72908846 1 51540607 [A/G] JHU_1.51542603 1 51542604 [T/G] rs7541663 1 51544465 [T/C] rs17391905 1 51546140 [T/G] exm-rs17391905 1 51546140 [T/G] JHU_1.51546684 1 51546685 [T/G] JHU_1.51548262 1 51548263 [T/C] 1:51550228-G-A 1 51550228 [A/G] JHU_1.51551719 1 51551720 [T/C] rs74080151 1 51553100 [A/G] rs78620259 1 51566227 [T/C] JHU_1.51567299 1 51567300 [A/G] JHU_1.51569121 1 51569122 [A/C] NM_001136508 C1orf185 Silent rs4926879 1 51570046 [T/C] NM_001136508 C1orf185 Silent JHU_1.51577045 1 51577046 [T/C] NM_001136508 C1orf185 Silent exm58328 1 51578237 [T/C] NM_001136508 C1orf185 EXON Nonsense_R40X rs141091428 1 51580037 [T/G] NM_001136508 C1orf185 Silent rs113121920 1 51581981 [A/C] NM_001136508 C1orf185 Silent rs6704076 1 51582592 [A/C] NM_001136508 C1orf185 Silent 1:51584391-GA 1 51584391 [A/G] NM_001136508 C1orf185 EXON Missense_R59K exm58332 1 51584465 [T/C] NM_001136508 C1orf185 EXON Nonsense_Q84X rs187842989 1 51588169 [T/C] NM_001136508 C1orf185 Silent JHU_1.51590242 1 51590243 [A/C] NM_001136508 C1orf185 Silent JHU_1.51596204 1 51596205 [T/G] NM_001136508 C1orf185 Silent rs111703895 1 51608028 [A/G] NM_001136508 C1orf185 Silent 1:51611409-AG 1 51611409 [A/G] NM_001136508 C1orf185 EXON Missense_K91R 1:51613245-CA 1 51613245 [A/C] NM_001136508 C1orf185 EXON Missense_S134R 1:51613315-GA 1 51613315 [A/G] NM_001136508 C1orf185 EXON Missense_D158N exm58338 1 51613354 [A/G] NM_001136508 C1orf185 EXON Missense_G171R JHU_1.51615740 1 51615741 [T/C] rs12074413 1 51616379 [A/G] rs11205821 1 51631884 [T/C] JHU_1.51632568 1 51632569 [A/G] rs12744230 1 51632964 [A/G] kgp3277598 1 51638634 [A/C] rs116793077 1 51641086 [A/G] rs147403606 1 51642429 [T/C] 1:51642784-G-A 1 51642784 [A/G] rs147002333 1 51648878 [A/C] JHU_1.51657412 1 51657413 [A/G] rs12091097 1 51659401 [A/C] JHU_1.51662352 1 51662353 [T/C] NR_147076 LINC01562 EXON Silent rs681567 1 51688209 [G/C] NR_147076 LINC01562 Silent rs183832079 1 51688634 [T/G] NR_147076 LINC01562 Silent rs72896409 1 51692477 [T/C] NR_147076 LINC01562 Silent rs4926884 1 51699726 [A/G] NR_147076 LINC01562 Silent JHU_1.51703095 1 51703096 [A/G] NM_014372 RNF11 Silent JHU_1.51717774 1 51717775 [A/G] NM_014372 RNF11 Silent JHU_1.51733970 1 51733971 [G/C] NM_014372 RNF11 Silent 1:51736875-CT 1 51736875 [T/C] NM_014372 RNF11 EXON Missense_P116S rs147498188 1 51737781 [T/C] NM_014372 RNF11 EXON Silent rs147171069 1 51738190 [A/G] NM_014372 RNF11 EXON Silent JHU_1.51739207 1 51739208 [A/C] JHU_1.51743087 1 51743088 [T/C] JHU_1.51746835 1 51746836 [T/G] exm1824819 1 51753878 [A/G] NM_001297663,NM_001144832,NM_001297664,NM_001297667,NM_001297666,NM_001080494,NM_001297665 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_S562F,Missense_S566F,Missense_S535F,Missense_S139F,Missense_S206F,Missense_S563F,Missense_S598F exm58356 1 51754619 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001297667,NM_001297666,NM_001080494,NM_001297665 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_K501R,Missense_K505R,Missense_K474R,Missense_K78R,Missense_K145R,Missense_K502R,Missense_K537R exm58365 1 51756228 [G/C] NM_001297663,NM_001144832,NM_001297664,NM_001297667,NM_001297666,NM_001080494,NM_001297665 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_E446Q,Missense_E450Q,Missense_E419Q,Missense_E23Q,Missense_E90Q,Missense_E447Q,Missense_E482Q 1:51760124-GA 1 51760124 [A/G] NM_001297663,NM_001144832,NM_001297664,NM_001297667,NM_001297666,NM_001080494,NM_001297665 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_A402V,Missense_A406V,Missense_A375V,Silent,Missense_A46V,Missense_A403V,Missense_A438V 1:51761721-TC 1 51761721 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001297667,NM_001297666,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_X427W 1:51761736-CA 1 51761736 [A/C] NM_001297663,NM_001144832,NM_001297664,NM_001297667,NM_001297666,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R422L rs144190529 1 51766010 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent 1:51767398-CT 1 51767398 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_R300Q,Missense_R304Q,Missense_R273Q,Missense_R301Q,Missense_R336Q,Missense_R335Q exm58391 1 51767399 [A/G] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_R300W,Missense_R304W,Missense_R273W,Missense_R301W,Missense_R336W,Missense_R335W 1:51767860-GT 1 51767860 [T/G] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent 1:51767878-CT 1 51767878 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent 1:51767914-CA 1 51767914 [A/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent 1:51767976-GT 1 51767976 [T/G] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent 1:51768756-CA 1 51768756 [A/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_G255C,Missense_G259C,Missense_G228C,Missense_G256C,Missense_G291C,Missense_G290C indel.3397 1 51770774 [I/D] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON 1:51771695-GA 1 51771695 [A/G] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_P181L,Missense_P185L,Missense_P154L,Missense_P182L,Missense_P217L,Missense_P216L exm58419 1 51778500 [C/G] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_Q88E,Missense_Q92E,Missense_Q61E,Missense_Q89E,Missense_Q89E,Missense_Q88E 1:51778520-CT 1 51778520 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A EXON Missense_G81D,Missense_G85D,Missense_G54D,Missense_G82D,Missense_G82D,Missense_G81D var_1_51778617 1 51778617 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent JHU_1.51779357 1 51779358 [G/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent JHU_1.51779605 1 51779606 [A/G] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent rs12134299 1 51781211 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent rs186806388 1 51781821 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent rs149187438 1 51785918 [A/G] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent rs61782062 1 51786899 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent JHU_1.51787059 1 51787060 [G/C] NM_001297663,NM_001144832,NM_001297664,NM_001080494,NM_001297665,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent,Silent,Silent rs61782064 1 51792521 [A/G] NM_001297663,NM_001144832,NM_001297664,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent rs72906177 1 51793104 [T/C] NM_001297663,NM_001144832,NM_001297664,NM_001297662 TTC39A,TTC39A,TTC39A,TTC39A Silent,Silent,Silent,Silent 1:51796850-GA 1 51796850 [A/G] NM_001144832,NR_123731 TTC39A,TTC39A-AS1 EXON Silent,Silent JHU_1.51800711 1 51800712 [A/G] NM_001144832 TTC39A Silent rs116666865 1 51801505 [A/G] NM_001144832 TTC39A Silent rs138794316 1 51801516 [T/C] NM_001144832 TTC39A Silent rs117543067 1 51801586 [T/C] NM_001144832 TTC39A Silent exm2268889 1 51804731 [T/C] NM_001144832 TTC39A Silent JHU_1.51807389 1 51807390 [A/C] NM_001144832 TTC39A Silent chr1_51810670 1 51810670 [T/C] NM_001144832 TTC39A EXON Missense_D16N rs75720017 1 51814359 [A/G] JHU_1.51815090 1 51815091 [T/C] JHU_1.51815354 1 51815355 [A/T] JHU_1.51817353 1 51817354 [T/C] rs79904600 1 51821620 [A/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Silent,Silent exm58435 1 51826853 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_N531S,Missense_N845S 1:51826883-TC 1 51826883 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_N521S,Missense_N835S rs17567 1 51826921 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_I508M,Missense_I822M exm58438 1 51826921 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_I508M,Missense_I822M rs79064302 1 51827223 [T/C] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent 1:51829606-CT 1 51829606 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_S450N,Missense_S764N 1:51829615-GT 1 51829615 [T/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Nonsense_S447X,Nonsense_S761X exm58448 1 51829651 [T/A] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_N435I,Missense_N749I 1:51829693-TC 1 51829693 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_N421S,Missense_N735S JHU_1.51831282 1 51831283 [A/C] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent 1:51831701-GA 1 51831701 [A/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_A393V,Missense_A707V rs12122079 1 51838719 [A/G] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent rs2405699 1 51844778 [G/C] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent rs72694155 1 51847377 [T/C] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent JHU_1.51850442 1 51850443 [A/C] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent 1:51850568-T-G 1 51850568 [T/G] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent 1:51857381-G-A 1 51857381 [A/G] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent rs6673480 1 51859242 [T/C] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent exm58452 1 51860059 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_D391N,Missense_D705N exm58454 1 51860112 [A/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_T373M,Missense_T687M JHU_1.51861509 1 51861510 [A/G] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent exm1824888 1 51866591 [A/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Synonymous_I325I,Synonymous_I639I 1:51868109-CA 1 51868109 [A/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_G313V,Missense_G627V 1:51868152-CT 1 51868152 [T/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_A299T,Missense_A613T exm58463 1 51868160 [C/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_G296A,Missense_G610A JHU_1.51870074 1 51870075 [A/C] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent exm58473 1 51871587 [T/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_Q242P,Missense_Q556P exm58476 1 51871634 [A/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_N226K,Missense_N540K exm58479 1 51871731 [T/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_Q194P,Missense_Q508P exm58483 1 51873879 [A/C] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_S153R,Missense_S467R exm58487 1 51873956 [A/T] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_T128S,Missense_T442S exm58489 1 51873967 [A/G] NM_001159969,NM_001981 EPS15,EPS15 EXON Missense_S124L,Missense_S438L JHU_1.51878667 1 51878668 [A/G] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent rs76551417 1 51886480 [T/C] NM_001159969,NM_001981 EPS15,EPS15 Silent,Silent Variant37929 1 51888878 [A/G] NM_001981 EPS15 Silent JHU_1.51896700 1 51896701 [A/C] NM_001981 EPS15 Silent JHU_1.51905950 1 51905951 [C/G] NM_001981 EPS15 Silent 1:51910572-TG 1 51910572 [T/G] NM_001981 EPS15 EXON Missense_S315R exm58506 1 51910662 [T/C] NM_001981 EPS15 EXON Missense_A285T exm58509 1 51912638 [T/C] NM_001981 EPS15 EXON Missense_H264R exm2233547 1 51912639 [A/G] NM_001981 EPS15 EXON Missense_H264Y exm58518 1 51913719 [A/G] NM_001981 EPS15 EXON Missense_T217M JHU_1.51919743 1 51919744 [A/C] NM_001981 EPS15 Silent JHU_1.51923359 1 51923360 [T/C] NM_001981 EPS15 Silent rs10788934 1 51923614 [A/C] NM_001981 EPS15 Silent 1:51929454-TC 1 51929454 [T/C] NM_001981 EPS15 EXON Missense_K131R exm58536 1 51930938 [A/C] NM_001981 EPS15 EXON Missense_V124L JHU_1.51933640 1 51933641 [A/T] NM_001981 EPS15 Silent rs6661367 1 51935727 [T/C] NM_001981 EPS15 Silent var_1_51937362 1 51937362 [T/C] NM_001981 EPS15 EXON Synonymous_Q71Q rs10493154 1 51938848 [T/C] NM_001981 EPS15 Silent JHU_1.51939324 1 51939325 [T/A] NM_001981 EPS15 Silent rs71651197 1 51940251 [T/C] NM_001981 EPS15 Silent rs78471706 1 51953095 [T/C] NM_001981 EPS15 Silent JHU_1.51955736 1 51955737 [A/C] NM_001981 EPS15 Silent rs6668872 1 51957970 [T/C] NM_001981 EPS15 Silent JHU_1.51978677 1 51978678 [A/T] NM_001981 EPS15 Silent rs12039831 1 51983466 [T/C] NM_001981 EPS15 Silent exm58554 1 51984894 [T/C] NM_001981 EPS15 EXON Missense_A4T 1:51984900-CA 1 51984900 [A/C] NM_001981 EPS15 EXON Missense_A2S rs7541084 1 51989591 [A/G] JHU_1.51993004 1 51993005 [A/G] rs12044074 1 51998363 [T/C] rs12742946 1 52004134 [A/C] rs77083178 1 52007934 [T/A] rs71651200 1 52008067 [A/G] rs17394299 1 52008153 [A/G] rs74932143 1 52015183 [T/C] rs6588412 1 52016713 [T/C] rs7534689 1 52026384 [A/C] JHU_1.52030378 1 52030379 [A/G] rs116252803 1 52032706 [T/G] rs12038297 1 52033122 [A/C] rs12127044 1 52033856 [T/G] kgp2444821 1 52034812 [T/C] rs10888725 1 52035067 [T/C] JHU_1.52037755 1 52037756 [A/G] rs75876372 1 52043298 [T/C] rs79365992 1 52050945 [T/C] JHU_1.52056018 1 52056019 [A/G] rs13375698 1 52059408 [A/T] JHU_1.52062655 1 52062656 [T/C] rs7527695 1 52064740 [T/C] JHU_1.52075014 1 52075015 [T/C] rs116558410 1 52077824 [C/G] rs74976144 1 52078395 [A/C] 1:52082732-CT 1 52082732 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.52083007 1 52083008 [G/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.52083469 1 52083470 [T/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115674696 1 52086103 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs144344344 1 52087589 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79550512 1 52088013 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6695853 1 52097580 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11205875 1 52112526 [T/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:52115127-A-C 1 52115127 [A/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp7419103 1 52119992 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75408755 1 52127418 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs117553412 1 52135801 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.52139564 1 52139565 [T/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12120749 1 52145202 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.52146060 1 52146061 [A/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.52150584 1 52150585 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs182041668 1 52160625 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs117224697 1 52160693 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs118077108 1 52162973 [T/A] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77809577 1 52162977 [A/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12074299 1 52163537 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12130751 1 52165225 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.52167079 1 52167080 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.52167313 1 52167314 [T/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.52171040 1 52171041 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79618459 1 52175168 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75466777 1 52176596 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72663130 1 52186389 [A/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.52191493 1 52191494 [C/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs856600 1 52195029 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm58579 1 52211229 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_P114S,Silent,Missense_P97S,Missense_P114S,Silent,Missense_P137S,Silent,Missense_P17S,Silent,Silent,Silent,Silent exm58585 1 52212387 [T/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_F140L,Silent,Missense_F123L,Missense_F140L,Silent,Missense_F163L,Silent,Missense_F43L,Silent,Silent,Silent,Silent exm1824980 1 52215832 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_I170V,Silent,Missense_I153V,Missense_I170V,Silent,Missense_I193V,Silent,Missense_I73V,Missense_I5V,Missense_I5V,Silent,Missense_I5V exm58590 1 52221995 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Silent,Nonsense_Q166X,Nonsense_Q183X,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Q18X exm58592 1 52222016 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Silent,Missense_A173T,Missense_A190T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A25T exm58595 1 52226377 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_V187I,Missense_V14I,Missense_V183I,Missense_V200I,Missense_V14I,Missense_V210I,Silent,Missense_V90I,Missense_V22I,Missense_V22I,Silent,Missense_V35I exm58597 1 52226396 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_P193L,Missense_P20L,Missense_P189L,Missense_P206L,Missense_P20L,Missense_P216L,Silent,Missense_P96L,Missense_P28L,Missense_P28L,Silent,Missense_P41L exm58599 1 52227610 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_G236R,Missense_G63R,Missense_G232R,Missense_G249R,Missense_G63R,Missense_G259R,Silent,Missense_G139R,Missense_G71R,Missense_G71R,Missense_G34R,Missense_G84R JHU_1.52230064 1 52230065 [T/A] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm58605 1 52231560 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_T269I,Missense_T96I,Missense_T265I,Missense_T282I,Missense_T96I,Missense_T292I,Silent,Missense_T172I,Missense_T104I,Missense_T104I,Missense_T67I,Missense_T117I indel.3412 1 52231652 [D/I] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON JHU_1.52233562 1 52233563 [C/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:52237786-AG 1 52237786 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_N315S,Missense_N142S,Missense_N311S,Missense_N328S,Missense_N142S,Missense_N338S,Silent,Missense_N218S,Missense_N150S,Missense_N150S,Missense_N113S,Missense_N163S exm58610 1 52237815 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_S325P,Missense_S152P,Missense_S321P,Missense_S338P,Missense_S152P,Missense_S348P,Silent,Missense_S228P,Missense_S160P,Missense_S160P,Missense_S123P,Missense_S173P exm58614 1 52238313 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_A350V,Missense_A177V,Missense_A346V,Missense_A363V,Missense_A177V,Missense_A373V,Silent,Missense_A253V,Missense_A185V,Missense_A185V,Missense_A148V,Missense_A198V 1:52238345-GA 1 52238345 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_V361I,Missense_V188I,Missense_V357I,Missense_V374I,Missense_V188I,Missense_V384I,Silent,Missense_V264I,Missense_V196I,Missense_V196I,Missense_V159I,Missense_V209I JHU_1.52239613 1 52239614 [T/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.52248131 1 52248132 [T/C] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:52250205-AG 1 52250205 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_T581A,Missense_T408A,Missense_T577A,Missense_T594A,Missense_T408A,Missense_T604A,Silent,Missense_T484A,Missense_T416A,Missense_T416A,Missense_T379A,Missense_T429A exm58639 1 52251499 [T/A] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_S604T,Missense_S431T,Missense_S600T,Missense_S617T,Missense_S431T,Missense_S627T,Silent,Missense_S507T,Missense_S439T,Missense_S439T,Missense_S402T,Missense_S452T exm58643 1 52252234 [A/G] NM_148908,NM_001350209,NM_148906,NM_024586,NM_001350208,NM_148909,NR_036662,NM_148907,NM_148905,NM_148904,NM_001350210,NM_001330580 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Missense_I636V,Missense_I463V,Missense_I632V,Missense_I649V,Missense_I463V,Missense_I659V,Silent,Missense_I539V,Missense_I471V,Missense_I471V,Missense_I434V,Missense_I484V 1:52255304-TC 1 52255304 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_K1065R,Missense_K1133R,Missense_K1001R JHU_1.52256128 1 52256129 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent JHU_1.52256358 1 52256359 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent variant.3415 1 52257245 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58673 1 52257317 [T/A] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_T965S,Missense_T1033S,Missense_T901S 1:52258725-T-C 1 52258725 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent 1:52259583-C-T 1 52259583 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58688 1 52260253 [A/T] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_E889V,Missense_E957V,Missense_E825V exm58691 1 52260518 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_M871I,Missense_M939I,Missense_M807I rs140190564 1 52261598 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs140287621 1 52263041 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs1417364 1 52263082 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs144400555 1 52263696 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58696 1 52264013 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_G838S,Missense_G906S,Missense_G774S 1:52264054-GA 1 52264054 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_A824V,Missense_A892V,Missense_A760V JHU_1.52264596 1 52264597 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent seq-rs8375 1 52266242 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Synonymous_P809P,Synonymous_P877P,Synonymous_P745P rs140158652 1 52266973 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs12063138 1 52268726 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58703 1 52269601 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_T733M,Missense_T801M,Missense_T669M 1:52269620-TC 1 52269620 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_I727V,Missense_I795V,Missense_I663V rs185867774 1 52270024 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent JHU_1.52270384 1 52270385 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs72663136 1 52272024 [G/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58710 1 52275032 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_E649K,Missense_E717K,Missense_E585K rs10888735 1 52275155 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58715 1 52276000 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_K619R,Missense_K687R,Missense_K555R rs72900063 1 52277455 [T/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs116191854 1 52277830 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent 1:52280250-AG 1 52280250 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_M531T,Missense_M599T,Missense_M467T exm58722 1 52280454 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_G491S,Missense_G559S,Missense_G427S rs2474118 1 52281082 [T/A] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58730 1 52285516 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_L416S,Missense_L484S,Missense_L352S rs17106799 1 52287800 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58735 1 52290964 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_F344S,Missense_F412S,Missense_F280S rs72900079 1 52292956 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs182788518 1 52294589 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent JHU_1.52295923 1 52295924 [T/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs12123333 1 52297059 [T/A] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58744 1 52299824 [A/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_L244W,Missense_L312W,Missense_L180W variant.3417 1 52301803 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_M238V,Missense_M306V,Missense_M174V 1:52301821-CT 1 52301821 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_A232T,Missense_A300T,Missense_A168T variant.3418 1 52303159 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Silent,Missense_R255K,Missense_R123K rs149371581 1 52305562 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent 1:52306064-ATCT-A 1 52306064 [I/D] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON exm58761 1 52306066 [T/A] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_E154D,Missense_E154D,Missense_E22D exm58764 1 52306086 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC EXON Missense_E148K,Missense_E148K,Missense_E16K rs117346555 1 52306681 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs138350843 1 52309278 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent JHU_1.52311291 1 52311292 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs61783367 1 52314403 [A/T] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent JHU_1.52316009 1 52316010 [T/A] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs6676789 1 52316785 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent 1:52318592-T-A 1 52318592 [T/A] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent JHU_1.52318912 1 52318913 [A/T] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent JHU_1.52322706 1 52322707 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs71653015 1 52325658 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs55787329 1 52326459 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent JHU_1.52340671 1 52340672 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs76887442 1 52341966 [C/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs6663305 1 52343297 [A/G] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent rs142707337 1 52343426 [T/C] NM_001101662,NM_002525,NM_001242361 NRDC,NRDC,NRDC Silent,Silent,Silent exm58778 1 52344113 [T/C] NM_001101662,NM_002525 NRDC,NRDC EXON Missense_T59A,Missense_T59A exm58779 1 52344122 [G/C] NM_001101662,NM_002525 NRDC,NRDC EXON Missense_A56P,Missense_A56P 1:52344143-CT 1 52344143 [T/C] NM_001101662,NM_002525 NRDC,NRDC EXON Missense_A49T,Missense_A49T exm58781 1 52344157 [A/G] NM_001101662,NM_002525 NRDC,NRDC EXON Missense_P44L,Missense_P44L 1:52344227-CT 1 52344227 [T/C] NM_001101662,NM_002525 NRDC,NRDC EXON Missense_G21R,Missense_G21R JHU_1.52344703 1 52344704 [A/G] rs11205901 1 52348349 [A/G] JHU_1.52372500 1 52372501 [A/C] rs1045633 1 52373863 [A/G] NM_002867 RAB3B EXON Silent rs6588416 1 52375424 [T/C] NM_002867 RAB3B EXON Silent JHU_1.52375984 1 52375985 [T/C] NM_002867 RAB3B EXON Silent JHU_1.52378273 1 52378274 [A/T] NM_002867 RAB3B EXON Silent JHU_1.52378860 1 52378861 [T/A] NM_002867 RAB3B EXON Silent JHU_1.52379148 1 52379149 [T/C] NM_002867 RAB3B EXON Silent JHU_1.52381263 1 52381264 [T/C] NM_002867 RAB3B EXON Silent exm58789 1 52385648 [A/G] NM_002867 RAB3B EXON Missense_T204M exm58793 1 52385693 [T/C] NM_002867 RAB3B EXON Missense_D189G exm58794 1 52385700 [T/C] NM_002867 RAB3B EXON Missense_M187V rs56120803 1 52390959 [G/C] NM_002867 RAB3B Silent rs10888740 1 52400097 [A/G] NM_002867 RAB3B Silent JHU_1.52404333 1 52404334 [T/G] NM_002867 RAB3B Silent rs4503295 1 52407430 [A/G] NM_002867 RAB3B Silent rs1935290 1 52407590 [C/G] NM_002867 RAB3B Silent rs141412168 1 52420302 [T/C] NM_002867 RAB3B Silent JHU_1.52420450 1 52420451 [A/C] NM_002867 RAB3B Silent rs10888743 1 52423167 [T/C] NM_002867 RAB3B Silent rs12028371 1 52426089 [A/G] NM_002867 RAB3B Silent rs113918760 1 52428151 [A/C] NM_002867 RAB3B Silent rs143786093 1 52429284 [T/C] NM_002867 RAB3B Silent rs2794988 1 52430920 [A/C] NM_002867 RAB3B Silent rs2783197 1 52436038 [A/G] NM_002867 RAB3B Silent 1:52451014-A-G 1 52451014 [A/G] NM_002867 RAB3B Silent rs56353355 1 52451348 [T/C] NM_002867 RAB3B Silent rs77008244 1 52461359 [T/C] rs12023375 1 52465034 [T/C] rs2794997 1 52469594 [T/C] rs139131813 1 52477366 [T/C] JHU_1.52478658 1 52478659 [T/C] JHU_1.52484848 1 52484849 [T/G] variant.3422 1 52486598 [A/G] NM_015913 TXNDC12 EXON Silent 1:52486639-GA 1 52486639 [A/G] NM_015913 TXNDC12 EXON Missense_A162V Variant37930 1 52486677 [T/C] NM_015913 TXNDC12 EXON Synonymous_Q149Q variant.3424 1 52489158 [T/C] NM_015913 TXNDC12 Silent rs115831110 1 52489689 [T/C] NM_015913 TXNDC12 Silent variant.3425 1 52490245 [A/C] NM_015913 TXNDC12 EXON Nonsense_E98X 1:52492958-CA 1 52492958 [A/C] NM_015913 TXNDC12 EXON Missense_V92L exm58824 1 52492993 [A/G] NM_015913 TXNDC12 EXON Missense_T80M rs3753197 1 52494034 [T/C] NM_015913 TXNDC12 Silent variant.3426 1 52498383 [A/G] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Nonsense_Q351X 1:52498406-TC 1 52498406 [T/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_N343S 1:52498457-AG 1 52498457 [A/G] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_I326T exm58841 1 52498721 [C/G] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_P238R exm58842 1 52498728 [T/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_E236K exm58844 1 52498733 [T/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_G234D exm58847 1 52498818 [T/G] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_P206T exm58848 1 52498836 [A/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_S200A exm58853 1 52498861 [A/T] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_D191E exm58855 1 52498868 [G/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_T189S 1:52498965-TG 1 52498965 [T/G] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_T157P 1:52498997-GA 1 52498997 [A/G] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_A146V exm58863 1 52499058 [G/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_P126A 1:52499087-TCCCGCGA-T 1 52499087 [D/I] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON 1:52499138-CT 1 52499138 [T/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_R99H exm58877 1 52499253 [A/C] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_A61S 1:52499429-GA 1 52499429 [A/G] NM_015913,NR_046405,NR_046406,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Missense_P2L rs141121748 1 52503859 [T/C] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 Silent,Silent,Silent variant.3432 1 52507209 [T/C] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 EXON Missense_S53N,Silent,Silent rs117399536 1 52507391 [T/C] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 Silent,Silent,Silent 1:52516639-TC 1 52516639 [T/C] NM_015913,NR_046405,NR_046406,NR_126385 TXNDC12,TXNDC12,TXNDC12,TXNDC12-AS1 Silent,Silent,Silent,Silent JHU_1.52518540 1 52518541 [T/C] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 Silent,Silent,Silent exm58896 1 52520704 [A/G] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 EXON Missense_I22T,Silent,Silent exm58897 1 52520722 [C/G] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 EXON Missense_S16T,Silent,Silent exm58898 1 52520740 [A/G] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 EXON Missense_T10I,Silent,Silent JHU_1.52521649 1 52521650 [T/C] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 EXON Silent,Silent,Silent rs2809954 1 52521798 [T/G] NM_015913,NR_046405,NR_046406 TXNDC12,TXNDC12,TXNDC12 EXON Silent,Silent,Silent rs2783192 1 52522526 [A/G] NM_001243767,NM_152265,NM_001136497 BTF3L4,BTF3L4,BTF3L4 Silent,Silent,Silent rs10493163 1 52525637 [A/G] NM_001243767,NM_152265,NM_001136497 BTF3L4,BTF3L4,BTF3L4 Silent,Silent,Silent 1:52526749-T-C 1 52526749 [T/C] NM_001243767,NM_152265,NM_001136497 BTF3L4,BTF3L4,BTF3L4 Silent,Silent,Silent rs146873039 1 52533133 [A/G] NM_001243767,NM_152265,NM_001136497 BTF3L4,BTF3L4,BTF3L4 Silent,Silent,Silent rs7530349 1 52544835 [A/G] NM_001243767,NM_152265,NM_001136497 BTF3L4,BTF3L4,BTF3L4 Silent,Silent,Silent JHU_1.52544911 1 52544912 [A/G] NM_001243767,NM_152265,NM_001136497 BTF3L4,BTF3L4,BTF3L4 Silent,Silent,Silent JHU_1.52547720 1 52547721 [T/C] NM_001243767,NM_152265,NM_001136497 BTF3L4,BTF3L4,BTF3L4 Silent,Silent,Silent JHU_1.52556730 1 52556731 [C/G] kgp15838037 1 52560928 [A/G] JHU_1.52564348 1 52564349 [A/G] JHU_1.52564718 1 52564719 [A/C] rs12038465 1 52568781 [A/G] rs12042955 1 52576555 [T/C] rs118137445 1 52584983 [T/C] rs145686077 1 52588689 [A/G] JHU_1.52606442 1 52606443 [A/G] JHU_1.52609338 1 52609339 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52615487 1 52615488 [C/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52616678 1 52616679 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs11205935 1 52617169 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs74778926 1 52623462 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs151005416 1 52628386 [T/A] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent 1:52629836-G-A 1 52629836 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs7512531 1 52630296 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs12086028 1 52631292 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs17401875 1 52632627 [T/A] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52632626 1 52632627 [T/A] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52643615 1 52643616 [T/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52643620 1 52643621 [T/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs150077989 1 52652013 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs11587003 1 52654408 [T/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs11205940 1 52658156 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52658402 1 52658403 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52663782 1 52663783 [T/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs145135756 1 52666438 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs76789016 1 52675534 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52687516 1 52687517 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52691530 1 52691531 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs144743719 1 52693547 [A/T] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs6657731 1 52696159 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs992678 1 52698707 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent indel.3433 1 52698917 [I/D] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON 1:52698944-CA 1 52698944 [A/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_N22K,Missense_N22K exm58921 1 52703169 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_V27A,Missense_V27A exm58923 1 52703225 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_R46W,Missense_R46W exm58926 1 52703288 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_P67S,Missense_P67S exm58928 1 52703355 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_A89V,Missense_A89V exm58930 1 52703448 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_Y120C,Missense_Y120C 1:52703475-TC 1 52703475 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_V129A,Missense_V129A exm58933 1 52703491 [G/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_K134N,Missense_K134N 1:52703627-GA 1 52703627 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_A180T,Missense_A180T exm58940 1 52703708 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_M207V,Missense_M207V exm58941 1 52703709 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_M207T,Missense_M207T exm58947 1 52703790 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_S234F,Missense_S234F 1:52703883-CT 1 52703883 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_T265M,Missense_T265M exm58954 1 52703949 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_Y287C,Missense_Y287C exm58965 1 52704153 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_C355Y,Missense_C355Y exm58970 1 52704264 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_H392R,Missense_H392R exm58972 1 52704330 [A/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_Q414P,Missense_Q414P exm58974 1 52704350 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_K421E,Missense_K421E exm58980 1 52704569 [T/A] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_T494S,Missense_T494S exm58987 1 52704740 [T/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_C551G,Missense_C551G exm58989 1 52704776 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_P563S,Missense_P563S chr1_52704780 1 52704780 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_K564R,Missense_K564R exm58990 1 52704789 [G/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_A567G,Missense_A567G exm58996 1 52705004 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_I639V,Missense_I639V 1:52705062-CT 1 52705062 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_T658I,Missense_T658I exm59002 1 52705115 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_G676S,Missense_G676S JHU_1.52706663 1 52706664 [A/T] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52708727 1 52708728 [C/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs72666805 1 52715434 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52722397 1 52722398 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent 1:52729443-AC 1 52729443 [A/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent 1:52730612-C-T 1 52730612 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent exm59024 1 52734221 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_M789V,Missense_M848V JHU_1.52736428 1 52736429 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent exm59029 1 52740137 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_T817M,Missense_T876M exm59031 1 52740229 [T/A] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_I848F,Missense_I907F variant.3434 1 52740256 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_D857N,Missense_D916N rs75356792 1 52743796 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs11205949 1 52744754 [T/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52745055 1 52745056 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent exm59042 1 52747446 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_I936V,Missense_I995V rs35354820 1 52752527 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52753603 1 52753604 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52754709 1 52754710 [A/T] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52756329 1 52756330 [A/T] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52756863 1 52756864 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52757687 1 52757688 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent 1:52759178-AG 1 52759178 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_S968G,Missense_S1027G variant.3436 1 52759349 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_L1025F,Missense_L1084F exm2252081 1 52761589 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Synonymous_S1032S,Synonymous_S1091S 1:52761621-CT 1 52761621 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_T1043M,Missense_T1102M exm59050 1 52761632 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_I1047V,Missense_I1106V exm59051 1 52769526 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_V1064I,Missense_V1123I 1:52769557-GA 1 52769557 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_R1074Q,Missense_R1133Q rs116975700 1 52769924 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent 1:52777813-T-G 1 52777813 [T/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs12135253 1 52782220 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52784041 1 52784042 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52785701 1 52785702 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52786064 1 52786065 [A/T] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs116631899 1 52787887 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52788046 1 52788047 [T/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52789979 1 52789980 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52790075 1 52790076 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs78134193 1 52793956 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs191358605 1 52794983 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent rs183888129 1 52794996 [T/A] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent JHU_1.52797868 1 52797869 [T/A] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent exm59056 1 52798576 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_N1133S,Missense_N1192S exm59061 1 52803503 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_E1185K,Missense_E1244K 1:52803596-GA 1 52803596 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_V1216I,Missense_V1275I exm59067 1 52810458 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_D1261N,Missense_D1320N rs7546223 1 52814170 [A/G] rs117784381 1 52815304 [T/C] variant.3437 1 52820549 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Nonsense_Q768X,Nonsense_Q774X exm59101 1 52820567 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_G762S,Missense_G768S 1:52820569-CT 1 52820569 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R761Q,Missense_R767Q JHU_1.52821041 1 52821042 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B Silent,Silent exm59106 1 52821115 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_A732P,Missense_A738P exm59107 1 52821295 [T/A] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_F724L,Missense_F730L 1:52821327-CT 1 52821327 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_D714N,Missense_D720N chr1_52821485 1 52821485 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_H696Y,Missense_H702Y exm59116 1 52821892 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_H674Y,Missense_H680Y exm1825963 1 52821952 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R654C,Missense_R660C exm59122 1 52822056 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R646Q,Missense_R652Q 1:52822708-CT 1 52822708 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_A615T,Missense_A621T exm59125 1 52822722 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_A610V,Missense_A616V exm59126 1 52822749 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_H601R,Missense_H607R 1:52823195-C-CA 1 52823195 [I/D] NM_001330585,NM_032449 CC2D1B,CC2D1B exm59134 1 52823299 [A/T] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_S551C,Missense_S557C 1:52823301-CT 1 52823301 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R550H,Missense_R556H 1:52823322-CA 1 52823322 [A/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R543L,Missense_R549L exm59145 1 52823546 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_V496L,Missense_V502L exm59147 1 52823573 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Silent,Missense_Q493E JHU_1.52823578 1 52823579 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Silent,Missense_H491D chr1_52824070 1 52824070 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_T465I,Missense_T465I variant.3445 1 52824403 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Nonsense_R429X,Nonsense_R429X 1:52824411-CT 1 52824411 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R426Q,Missense_R426Q exm59175 1 52824749 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R403W,Missense_R403W exm59177 1 52824767 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_E397K,Missense_E397K exm2252083 1 52824768 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Synonymous_R396R,Synonymous_R396R 1:52824829-AG 1 52824829 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_V376A,Missense_V376A exm59182 1 52824996 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_T351I,Missense_T351I 1:52825012-CA 1 52825012 [A/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_A346S,Missense_A346S 1:52825423-CT 1 52825423 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R299Q,Missense_R299Q exm59191 1 52825460 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_Q287E,Missense_Q287E 1:52825462-CT 1 52825462 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R286Q,Missense_R286Q exm59193 1 52825463 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Nonsense_R286X,Nonsense_R286X exm59195 1 52825483 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_P279L,Missense_P279L 1:52825505-CT 1 52825505 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_V272I,Missense_V272I exm59202 1 52825833 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_A226T,Missense_A226T chr1_52826158 1 52826158 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_A181T,Missense_A181T 1:52826166-CT 1 52826166 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R178Q,Missense_R178Q 1:52826167-GA 1 52826167 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Nonsense_R178X,Nonsense_R178X exm59221 1 52826729 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_G132S,Missense_G132S exm59224 1 52826789 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_V112I,Missense_V112I exm59225 1 52826803 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_T107M,Missense_T107M rs11806164 1 52827032 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B Silent,Silent exm59228 1 52827195 [C/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_A103G,Missense_A103G 1:52827213-TTCCTCC-TTCC 1 52827213 [D/I] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON exm59232 1 52827241 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_R88W,Missense_R88W exm1826056 1 52828280 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_G70R,Missense_G70R exm1826059 1 52828383 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_M35I,Missense_M35I exm59239 1 52828384 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_M35T,Missense_M35T rs75942750 1 52829183 [A/G] NM_001330585,NM_032449 CC2D1B,CC2D1B Silent,Silent exm59240 1 52830224 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Synonymous_Q23Q,Synonymous_Q23Q exm59242 1 52830241 [T/C] NM_001330585,NM_032449 CC2D1B,CC2D1B EXON Missense_V18M,Missense_V18M JHU_1.52830529 1 52830530 [T/A] NM_001330585,NM_032449 CC2D1B,CC2D1B Silent,Silent rs9633423 1 52836139 [A/G] exm2260412 1 52836736 [A/G] exm59254 1 52838992 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_M816T,Missense_M811T,Missense_M816T exm59260 1 52840559 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_V772I,Missense_V767I,Missense_V772I newrs61756138 1 52841102 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_K768R,Missense_K763R,Missense_K768R exm59269 1 52841243 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R721Q,Missense_R716Q,Missense_R721Q var_1_52841246 1 52841246 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R720Q,Missense_R715Q,Missense_R720Q seq-rs387906828 1 52841246 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R720Q,Missense_R715Q,Missense_R720Q JHU_1.52841697 1 52841698 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 Silent,Silent,Silent rs147351223 1 52847321 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_A709V,Missense_A704V,Missense_A709V exm2233559 1 52847321 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_A709V,Missense_A704V,Missense_A709V exm59271 1 52847342 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_D702G,Missense_D697G,Missense_D702G rs201253919 1 52849109 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R666W,Missense_R661W,Missense_R666W rs182725706 1 52849172 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_A645T,Missense_A640T,Missense_A645T 1:52850232-TC 1 52850232 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_Q582R,Missense_Q577R,Missense_Q582R 1:52850256-GA 1 52850256 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_T574M,Missense_T569M,Missense_T574M exm59303 1 52850899 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_C506Y,Missense_C501Y,Missense_C506Y exm59309 1 52851539 [A/T] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_E489V,Missense_E484V,Missense_E489V 1:52851582-GA 1 52851582 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R475C,Missense_R470C,Missense_R475C exm59313 1 52851594 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_A471T,Missense_A466T,Missense_A471T exm59314 1 52851599 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_C469Y,Missense_C464Y,Missense_C469Y exm59315 1 52851600 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_C469R,Missense_C464R,Missense_C469R exm59318 1 52851608 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_T466M,Missense_T461M,Missense_T466M var_1_52854114 1 52854114 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Synonymous_S461S,Silent,Synonymous_S461S exm59319 1 52854114 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Synonymous_S461S,Silent,Synonymous_S461S exm59323 1 52854175 [A/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R441M,Missense_R441M,Missense_R441M exm59324 1 52854179 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_S440P,Missense_S440P,Missense_S440P variant.3464 1 52854889 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R396Q,Missense_R396Q,Missense_R396Q exm59327 1 52854890 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R396W,Missense_R396W,Missense_R396W 1:52854937-CT 1 52854937 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R380H,Missense_R380H,Missense_R380H exm59332 1 52854961 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_A372V,Missense_A372V,Missense_A372V rs6672059 1 52855047 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 Silent,Silent,Silent variant.3465 1 52859236 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Nonsense_R321X,Nonsense_R321X,Nonsense_R321X 1:52859253-CT 1 52859253 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R315H,Missense_R315H,Missense_R315H indel.3466 1 52859336 [I/D] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON exm59342 1 52859391 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_S269L,Missense_S269L,Missense_S269L rs61753390 1 52859391 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_S269L,Missense_S269L,Missense_S269L exm59344 1 52859407 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R264W,Missense_R264W,Missense_R264W 1:52859413-TC 1 52859413 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_I262V,Missense_I262V,Missense_I262V 1:52861831-GA 1 52861831 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_T203I,Missense_T203I,Missense_T203I 1:52861871-CT 1 52861871 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_V190M,Missense_V190M,Missense_V190M exm59353 1 52861899 [T/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_Q180H,Missense_Q180H,Missense_Q180H indel.3467 1 52861976 [D/I] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON exm1826388 1 52862002 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_T146M,Missense_T146M,Missense_T146M exm59358 1 52863406 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_P118L,Missense_P118L,Missense_P118L variant.3468 1 52863417 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Nonsense_W114X,Nonsense_W114X,Nonsense_W114X rs143141689 1 52863445 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R105Q,Missense_R105Q,Missense_R105Q newrs141971656 1 52863488 [A/G] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Nonsense_R91X,Nonsense_R91X,Nonsense_R91X rs76966719 1 52867105 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_Q51R,Missense_Q51R,Missense_Q51R indel.3471 1 52867800 [D/I] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 exm59371 1 52867839 [G/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R19S,Missense_R19S,Missense_R19S rs3087473 1 52867839 [G/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 EXON Missense_R19S,Missense_R19S,Missense_R19S rs7551213 1 52868227 [T/C] NM_001190818,NM_001190819,NM_004153 ORC1,ORC1,ORC1 Silent,Silent,Silent exm2252088 1 52870544 [A/C] NM_032864 PRPF38A EXON Synonymous_G41G rs143546384 1 52871958 [T/C] NM_032864 PRPF38A Silent 1:52874108-AG 1 52874108 [A/G] NM_032864 PRPF38A Silent exm59386 1 52874253 [A/G] NM_032864 PRPF38A EXON Missense_M101I rs144680072 1 52879527 [A/G] NM_032864 PRPF38A Silent exm59401 1 52879611 [G/C] NM_032864 PRPF38A EXON Missense_R224G exm59403 1 52879623 [A/G] NM_032864 PRPF38A EXON Missense_T228A 1:52881019-GA 1 52881019 [A/G] NM_032864 PRPF38A EXON Missense_R286H JHU_1.52882465 1 52882466 [T/G] NM_032864 PRPF38A EXON Silent variant.3473 1 52889540 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Silent,Silent rs17107217 1 52889891 [A/C] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent exm59426 1 52891053 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_R1613Q,Missense_R1612Q 1:52891078-TC 1 52891078 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_N1605D,Missense_N1604D exm2233563 1 52891085 [A/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_L1602F,Missense_L1601F exm59439 1 52896730 [G/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_V1556L,Missense_V1555L 1:52896751-CT 1 52896751 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_D1549N,Missense_D1548N exm59448 1 52896964 [G/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_P1478A,Missense_P1477A rs61782548 1 52898648 [C/G] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent exm59457 1 52901119 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_N1394S,Missense_N1393S exm59458 1 52901123 [A/G] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_R1393C,Missense_R1392C exm59464 1 52902525 [A/G] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_P1355L,Missense_P1354L exm59465 1 52902540 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_R1350Q,Missense_R1349Q exm59467 1 52902547 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_D1348N,Missense_D1347N 1:52902576-CT 1 52902576 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_R1338Q,Missense_R1337Q 1:52902618-CT 1 52902618 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_S1324N,Missense_S1323N JHU_1.52911414 1 52911415 [T/G] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent exm1826447 1 52911472 [A/G] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_I1270T,Missense_I1270T JHU_1.52916663 1 52916664 [A/G] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent 1:52926549-A-G 1 52926549 [A/G] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent 1:52926895-CA 1 52926895 [A/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_A1078S,Missense_A1078S JHU_1.52929926 1 52929927 [T/A] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent exm59497 1 52933876 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_K981R,Missense_K981R exm59505 1 52940543 [A/T] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_L896F,Missense_L896F exm2233564 1 52940629 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_D868N,Missense_D868N exm59516 1 52940845 [A/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_D796Y,Missense_D796Y exm59523 1 52941000 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_N744S,Missense_N744S 1:52941091-CA 1 52941091 [A/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_G714C,Missense_G714C exm59529 1 52941198 [A/G] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_S678L,Missense_S678L 1:52942324-C-G 1 52942324 [C/G] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent rs2274145 1 52947045 [T/C] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent rs79561082 1 52947056 [A/C] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent 1:52947120-TC 1 52947120 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_N608S,Missense_N608S 1:52947582-TC 1 52947582 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_D510G,Missense_D510G JHU_1.52950342 1 52950343 [T/A] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent JHU_1.52956769 1 52956770 [T/C] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent 1:52961108-AC 1 52961108 [A/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_F419L,Missense_F419L exm59552 1 52961176 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_R397G,Missense_R397G 1:52962706-CT 1 52962706 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_M383I,Missense_M383I rs116793460 1 52969293 [A/G] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent rs139141979 1 52971064 [T/C] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent JHU_1.52973831 1 52973832 [T/C] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent JHU_1.52987881 1 52987882 [T/C] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent exm59569 1 52991387 [A/G] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_T189I,Missense_T189I 1:52991478-CT 1 52991478 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_E159K,Missense_E159K exm59579 1 52991646 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_N103D,Missense_N103D 1:52991688-CT 1 52991688 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_V89I,Missense_V89I 1:52991843-CT 1 52991843 [T/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Missense_R37K,Missense_R37K 1:52991949-CA 1 52991949 [A/C] NM_001009881,NM_015269 TUT4,TUT4 EXON Nonsense_E2X,Nonsense_E2X rs7512677 1 52996289 [A/G] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent rs144139634 1 53006142 [A/G] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent rs1493365 1 53017445 [A/G] NM_001009881,NM_015269 TUT4,TUT4 Silent,Silent JHU_1.53020313 1 53020314 [T/C] rs7545231 1 53022647 [A/G] rs115792400 1 53027820 [A/G] rs72905646 1 53027908 [T/C] rs17373952 1 53049269 [T/C] JHU_1.53054856 1 53054857 [A/G] rs835337 1 53059106 [A/G] rs835342 1 53064034 [A/G] 1:53068185-GA 1 53068185 [A/G] NM_015696 GPX7 EXON Missense_G35D JHU_1.53070739 1 53070740 [A/G] NM_015696 GPX7 Silent 1:53072377-GA 1 53072377 [A/G] NM_015696 GPX7 EXON Missense_A54T kgp15405122 1 53072432 [A/G] NM_015696 GPX7 EXON Missense_R72Q chr1_53072443 1 53072443 [T/C] NM_015696 GPX7 EXON Missense_P76S kgp6717648 1 53072454 [T/C] NM_015696 GPX7 EXON Synonymous_F79F 1:53072524-TG 1 53072524 [T/G] NM_015696 GPX7 EXON Missense_F103V exm59603 1 53072530 [T/C] NM_015696 GPX7 EXON Missense_R105C Variant37931 1 53072617 [T/C] NM_015696 GPX7 EXON Nonsense_Q134X 1:53073972-TC 1 53073972 [T/C] NM_015696 GPX7 EXON Missense_Y147H kgp15165835 1 53074261 [A/G] NM_015696 GPX7 EXON Silent rs1047619 1 53074412 [A/G] NM_015696 GPX7 EXON Silent rs1047635 1 53074532 [A/C] NM_015696 GPX7 EXON Silent kgp15489178 1 53074599 [A/G] NM_015696 GPX7 EXON Silent rs12118636 1 53076159 [A/G] 1:53076159-G-A 1 53076159 [A/G] rs6588432 1 53081321 [A/G] rs17107332 1 53083115 [T/C] exm-rs6688451 1 53086040 [T/C] 1:53094802-A-G 1 53094802 [A/G] exm59622 1 53099242 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Missense_G26D rs11205983 1 53102133 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent JHU_1.53102683 1 53102684 [G/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent rs11583225 1 53103042 [G/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent rs12407301 1 53103781 [T/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent JHU_1.53105121 1 53105122 [T/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent rs554870 1 53106057 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent exm59628 1 53108537 [T/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Missense_I62T exm59629 1 53108543 [G/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Missense_A64G exm59630 1 53108545 [T/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Missense_L65F exm59637 1 53108665 [T/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Nonsense_Q105X rs936632 1 53111782 [A/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent rs6692566 1 53114318 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent exm2252095 1 53114736 [T/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent JHU_1.53115299 1 53115300 [T/C] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent JHU_1.53115894 1 53115895 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent JHU_1.53116250 1 53116251 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A Silent,Silent,Silent exm59647 1 53122648 [A/G] NR_135157,NR_135156,NM_001042693 SHISAL2A,SHISAL2A,SHISAL2A EXON Silent,Silent,Missense_D170G rs6685407 1 53124478 [T/C] NR_135157,NR_135156 SHISAL2A,SHISAL2A Silent,Silent JHU_1.53124692 1 53124693 [T/G] NR_135157,NR_135156 SHISAL2A,SHISAL2A Silent,Silent rs681865 1 53125600 [A/G] NR_135157,NR_135156 SHISAL2A,SHISAL2A Silent,Silent JHU_1.53125879 1 53125880 [A/G] NR_135157,NR_135156 SHISAL2A,SHISAL2A Silent,Silent rs269324 1 53126155 [T/C] NR_135157,NR_135156 SHISAL2A,SHISAL2A Silent,Silent JHU_1.53127739 1 53127740 [T/C] NR_135157,NR_135156 SHISAL2A,SHISAL2A Silent,Silent 1:53133866-T-C 1 53133866 [T/C] NR_135157,NR_135156 SHISAL2A,SHISAL2A Silent,Silent rs12067454 1 53137328 [T/C] JHU_1.53138031 1 53138032 [A/G] rs34480400 1 53138614 [T/C] rs145760767 1 53138835 [A/G] rs269303 1 53143271 [T/C] JHU_1.53145982 1 53145983 [T/C] exm59649 1 53153432 [T/C] NM_023077 COA7 EXON Missense_K219R newrs149085843 1 53153451 [A/G] NM_023077 COA7 EXON Nonsense_R213X exm59650 1 53153451 [A/G] NM_023077 COA7 EXON Nonsense_R213X JHU_1.53157143 1 53157144 [T/G] NM_023077 COA7 Silent exm59665 1 53158503 [T/C] NM_023077 COA7 EXON Missense_R48Q indel.3481 1 53158511 [I/D] NM_023077 COA7 EXON exm59667 1 53158524 [A/C] NM_023077 COA7 EXON Missense_V41G exm59670 1 53158534 [A/G] NM_023077 COA7 EXON Missense_Y38H indel.3482 1 53163902 [D/I] NM_023077 COA7 EXON 1:53163966-CA 1 53163966 [A/C] NM_023077 COA7 EXON Missense_E11D rs375945 1 53164220 [T/C] JHU_1.53164828 1 53164829 [A/T] rs150696762 1 53165138 [C/G] rs12135503 1 53165957 [A/G] rs115797007 1 53167758 [A/G] rs72668644 1 53167789 [T/G] JHU_1.53170747 1 53170748 [A/G] rs440871 1 53173052 [T/C] rs76293690 1 53174128 [A/G] rs399852 1 53176588 [A/G] rs139114908 1 53176817 [A/G] rs144130908 1 53177055 [A/G] rs6703281 1 53180716 [T/C] rs77315551 1 53181527 [A/G] rs115216152 1 53181556 [G/C] rs377403477 1 53192213 [T/C] NM_024646 ZYG11B EXON Silent rs12095247 1 53193796 [T/G] NM_024646 ZYG11B Silent rs11205998 1 53203586 [A/G] NM_024646 ZYG11B Silent rs6661196 1 53203664 [A/G] NM_024646 ZYG11B Silent JHU_1.53204659 1 53204660 [T/C] NM_024646 ZYG11B Silent JHU_1.53206992 1 53206993 [T/A] NM_024646 ZYG11B Silent 1:53209403-T-C 1 53209403 [T/C] NM_024646 ZYG11B Silent JHU_1.53212578 1 53212579 [A/T] NM_024646 ZYG11B Silent rs11206006 1 53218380 [A/G] NM_024646 ZYG11B Silent rs145004748 1 53218481 [A/G] NM_024646 ZYG11B Silent rs7518390 1 53233374 [T/C] NM_024646 ZYG11B Silent rs6664794 1 53234874 [A/G] NM_024646 ZYG11B Silent rs34517448 1 53235599 [T/C] NM_024646 ZYG11B Silent newrs142037149 1 53236690 [A/G] NM_024646 ZYG11B Silent 1KG_1_53236781 1 53236781 [I/D] NM_024646 ZYG11B EXON 1:53236791-GA 1 53236791 [A/G] NM_024646 ZYG11B EXON Missense_R99Q exm59702 1 53237196 [A/G] NM_024646 ZYG11B EXON Missense_R234Q chr1_53237204 1 53237204 [A/C] NM_024646 ZYG11B EXON Missense_K237Q 1:53237265-GA 1 53237265 [A/G] NM_024646 ZYG11B EXON Missense_R257H rs1412706 1 53237721 [A/G] NM_024646 ZYG11B Silent 1:53245585-GA 1 53245585 [A/G] NM_024646 ZYG11B EXON Missense_A338T JHU_1.53247639 1 53247640 [A/G] NM_024646 ZYG11B Silent 1:53250661-GA 1 53250661 [A/G] NM_024646 ZYG11B EXON Missense_R402Q exm59722 1 53250673 [A/G] NM_024646 ZYG11B EXON Missense_D406G rs7523761 1 53250915 [T/C] NM_024646 ZYG11B Silent JHU_1.53255581 1 53255582 [T/G] NM_024646 ZYG11B Silent rs12047393 1 53260254 [A/G] NM_024646 ZYG11B Silent JHU_1.53261448 1 53261449 [A/G] NM_024646 ZYG11B Silent rs56078509 1 53262151 [T/C] NM_024646 ZYG11B Silent JHU_1.53262150 1 53262151 [T/C] NM_024646 ZYG11B Silent exm59728 1 53262456 [A/G] NM_024646 ZYG11B EXON Synonymous_R495R rs74739108 1 53266501 [A/G] NM_024646 ZYG11B Silent JHU_1.53267108 1 53267109 [A/G] NM_024646 ZYG11B Silent 1:53267497-CT 1 53267497 [T/C] NM_024646 ZYG11B EXON Missense_L498F JHU_1.53270784 1 53270785 [A/T] NM_024646 ZYG11B Silent exm2273325 1 53287305 [T/C] NM_024646 ZYG11B EXON Silent rs12080630 1 53287710 [T/C] NM_024646 ZYG11B EXON Silent JHU_1.53289094 1 53289095 [A/T] NM_024646 ZYG11B EXON Silent rs147878326 1 53308146 [T/C] JHU_1.53308261 1 53308262 [T/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Silent exm59754 1 53308575 [T/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_P7L rs17107438 1 53309807 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent exm59762 1 53320274 [T/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_E76D rs480299 1 53320274 [T/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_E76D Variant37933 1 53320275 [T/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Nonsense_R77X exm2233572 1 53322768 [T/A] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_I119L exm59765 1 53322784 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_R124H 1:53322865-AG 1 53322865 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_N151S exm59771 1 53323033 [T/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Missense_L207P variant.3486 1 53323042 [T/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Silent,Nonsense_L210X rs10788945 1 53323492 [A/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent rs11206035 1 53323571 [T/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent exm59779 1 53326421 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Missense_M1V,Missense_M343V chr1_53326440 1 53326440 [T/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Missense_A7V,Missense_A349V Variant37934 1 53326448 [T/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Nonsense_R10X,Nonsense_R352X JHU_1.53328817 1 53328818 [A/T] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent chr1_53329774 1 53329774 [T/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Missense_S82L,Missense_S424L 1:53333116-A-G 1 53333116 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent JHU_1.53333481 1 53333482 [T/A] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent JHU_1.53336660 1 53336661 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent rs79548003 1 53337293 [T/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent rs117537115 1 53337432 [G/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent JHU_1.53339910 1 53339911 [A/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent rs1672909 1 53340824 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent rs77456695 1 53343996 [C/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent rs112150502 1 53344654 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent JHU_1.53345924 1 53345925 [C/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent exm59797 1 53347210 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Missense_N264S,Missense_N606S exm59799 1 53347270 [T/A] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Missense_H284L,Missense_H626L 1:53354671-A-G 1 53354671 [A/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent rs2124860 1 53355678 [T/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent JHU_1.53357517 1 53357518 [T/G] NM_001307931,NM_001004339 ZYG11A,ZYG11A Silent,Silent 1:53358480-TGAA-T 1 53358480 [I/D] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON 1:53358606-AC 1 53358606 [A/C] NM_001307931,NM_001004339 ZYG11A,ZYG11A EXON Missense_T411P,Missense_T753P rs1044365 1 53361928 [A/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Silent,Silent,Silent,Silent rs116677349 1 53364486 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 Silent,Silent,Silent,Silent exm1827121 1 53364857 [A/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Silent,Nonsense_R217X,Nonsense_R171X,Nonsense_R248X exm59819 1 53364875 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Silent,Missense_G211S,Missense_G165S,Missense_G242S exm59821 1 53364889 [A/T] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Silent,Missense_I206N,Missense_I160N,Missense_I237N exm59825 1 53370340 [A/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_L196P,Missense_L196P,Missense_L150P,Missense_L227P exm59826 1 53370357 [T/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Nonsense_Y190X,Nonsense_Y190X,Nonsense_Y144X,Nonsense_Y221X 1KG_1_53370388 1 53370388 [D/I] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON exm59829 1 53370392 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_A179T,Missense_A179T,Missense_A133T,Missense_A210T exm59836 1 53370484 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_R148H,Missense_R148H,Missense_R102H,Missense_R179H JHU_1.53370727 1 53370728 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Synonymous_T133T,Synonymous_T133T,Synonymous_T87T,Synonymous_T164T 1:53370756-GA 1 53370756 [A/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_S124L,Missense_S124L,Missense_S78L,Missense_S155L 1:53372199-CA 1 53372199 [A/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Silent,Silent,Silent,Missense_R150L chr1_53372274 1 53372275 [I/D] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON exm59849 1 53373560 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_R115Q,Missense_R115Q,Missense_R69Q,Missense_R115Q exm59850 1 53373561 [A/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_R115W,Missense_R115W,Missense_R69W,Missense_R115W rs143415261 1 53374331 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 Silent,Silent,Silent,Silent rs562641 1 53374666 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 Silent,Silent,Silent,Silent exm59856 1 53377291 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_R75Q,Missense_R75Q,Missense_R29Q,Missense_R75Q rs12094972 1 53385292 [A/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 Silent,Silent,Silent,Silent rs187724538 1 53386914 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 Silent,Silent,Silent,Silent 1:53387272-GA 1 53387272 [A/G] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_A25V,Missense_A25V,Silent,Missense_A25V Variant37936 1 53387313 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Nonsense_W11X,Nonsense_W11X,Silent,Nonsense_W11X 1:53387338-CT 1 53387338 [T/C] NM_001198962,NM_018281,NM_001319958,NM_001198961 ECHDC2,ECHDC2,ECHDC2,ECHDC2 EXON Missense_R3H,Missense_R3H,Silent,Missense_R3H JHU_1.53391235 1 53391236 [A/G] 1:53393127-GA 1 53393127 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_G20D,Missense_G20D,Missense_G20D,Silent,Missense_G20D,Missense_G20D rs61671409 1 53396324 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs1242330 1 53396842 [T/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.53396998 1 53396999 [G/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs72897393 1 53410818 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs1242317 1 53414766 [T/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent 1:53416457-AG 1 53416457 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_Y77C,Missense_Y53C,Silent,Silent,Missense_Y77C,Silent rs200302137 1 53416505 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_N93S,Missense_N69S,Silent,Missense_N12S,Missense_N93S,Silent JHU_1.53416720 1 53416721 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent 1:53420417-GA 1 53420417 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_A113T,Missense_A89T,Missense_A69T,Missense_A32T,Missense_A113T,Missense_A69T exm59885 1 53427197 [G/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_T140S,Missense_T116S,Missense_T96S,Missense_T59S,Missense_T140S,Missense_T96S 1:53427221-TC 1 53427221 [T/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_I148T,Missense_I124T,Missense_I104T,Missense_I67T,Missense_I148T,Missense_I104T variant.3508 1 53427259 [T/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Nonsense_Q161X,Nonsense_Q137X,Nonsense_Q117X,Nonsense_Q80X,Nonsense_Q161X,Nonsense_Q117X variant.3509 1 53440439 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent indel.3510 1 53442353 [D/I] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 1:53442426-CA 1 53442426 [A/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_T220N,Missense_T196N,Missense_T176N,Missense_T139N,Missense_T220N,Missense_T176N 1:53443966-CA 1 53443966 [A/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_A251D,Missense_A227D,Missense_A207D,Missense_A170D,Missense_A251D,Missense_A207D exm59900 1 53444040 [T/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs115928449 1 53444868 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent indel.3512 1 53446120 [D/I] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON JHU_1.53447581 1 53447582 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs7544995 1 53448372 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs12026882 1 53449365 [G/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs76734689 1 53451088 [A/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs183358235 1 53451240 [T/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs80326109 1 53451949 [T/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs76297549 1 53454240 [A/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs11206061 1 53455899 [T/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.53456936 1 53456937 [C/G] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent rs139016450 1 53458445 [T/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent 1:53458945-CT 1 53458945 [T/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_S366F,Silent,Silent,Silent,Silent,Missense_S322F JHU_1.53459180 1 53459181 [A/C] NM_001330587,NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Silent,Silent,Silent,Silent,Silent,Silent JHU_1.53461617 1 53461618 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979 SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent JHU_1.53464873 1 53464874 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979 SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent rs74980183 1 53465364 [T/G] NM_001193599,NM_001193600,NM_001193617,NM_002979 SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent JHU_1.53467379 1 53467380 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979 SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent JHU_1.53476692 1 53476693 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979 SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent rs145369060 1 53477076 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979 SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent rs77603798 1 53477567 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979 SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent rs79339136 1 53478455 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979 SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent exm59917 1 53480714 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_S388G,Missense_S368G,Missense_S331G,Missense_S412G,Missense_R8G,Missense_S8G,Missense_S8G rs17107624 1 53489668 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.53490242 1 53490243 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs78194055 1 53490739 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.53490787 1 53490788 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm59923 1 53493685 [G/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_A403G,Missense_A383G,Missense_A346G,Missense_A427G,Missense_A20G,Missense_A23G,Missense_A23G rs10437066 1 53495130 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12075895 1 53497421 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.53501267 1 53501268 [A/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.53503204 1 53503205 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11808284 1 53504411 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs113335333 1 53507637 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs60325902 1 53510148 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7519017 1 53510925 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6588459 1 53511094 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.53511138 1 53511139 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.53512019 1 53512020 [A/T] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm59927 1 53513608 [T/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_S492L,Missense_S472L,Missense_S435L,Missense_S516L,Missense_S109L,Missense_S112L,Silent rs12095520 1 53515994 [A/G] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs8871 1 53516999 [A/C] NM_001193599,NM_001193600,NM_001193617,NM_002979,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17376279 1 53525481 [T/C] exm59937 1 53527905 [G/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R5P,Silent,Silent 1:53527910-CA 1 53527910 [A/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R7S,Silent,Silent JHU_1.53529172 1 53529173 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Silent,Silent,Silent rs17107797 1 53530368 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN Silent,Silent,Silent 1:53531857-T-C 1 53531857 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN Silent,Silent,Silent rs10158910 1 53532117 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN Silent,Silent,Silent exm59946 1 53532535 [C/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Silent,Missense_A10P,Missense_A10P JHU_1.53532572 1 53532573 [T/A] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN Silent,Silent,Silent exm1827877 1 53535477 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R32C,Missense_R13C,Missense_R13C exm59950 1 53535478 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R32H,Missense_R13H,Missense_R13H exm59955 1 53535499 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_A39V,Missense_A20V,Missense_A20V 1:53535579-CT 1 53535579 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_H66Y,Missense_H47Y,Missense_H47Y 1:53535583-TC 1 53535583 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_L67P,Missense_L48P,Missense_L48P 1:53535585-GA 1 53535585 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_G68R,Missense_G49R,Missense_G49R 1:53535588-AC-A 1 53535588 [D/I] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON 1:53535591-GA 1 53535591 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_V70M,Missense_V51M,Missense_V51M 1:53535595-TC 1 53535595 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_L71P,Missense_L52P,Missense_L52P 1:53535607-CA 1 53535607 [A/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_A75D,Missense_A56D,Missense_A56D 1:53535621-CT 1 53535621 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Nonsense_R80X,Nonsense_R61X,Nonsense_R61X exm59968 1 53535687 [A/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_L102M,Missense_L83M,Missense_L83M exm59969 1 53535699 [G/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_E106Q,Missense_E87Q,Missense_E87Q exm59973 1 53535762 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_V127I,Missense_V108I,Missense_V108I 1:53537246-CT 1 53537246 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R166W,Missense_R147W,Missense_R147W exm2252117 1 53540321 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Synonymous_Y198Y,Synonymous_Y179Y,Synonymous_Y179Y variant.3522 1 53540342 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Synonymous_K205K,Synonymous_K186K,Synonymous_K186K exm59994 1 53541538 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_T207I,Missense_T188I,Missense_T188I exm59995 1 53541549 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R211C,Missense_R192C,Missense_R192C rs1077467 1 53542533 [T/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN Silent,Silent,Silent exm60000 1 53542915 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_M260T,Missense_M241T,Missense_M241T exm60007 1 53542998 [A/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_L288M,Missense_L269M,Missense_L269M exm60009 1 53543382 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_P303L,Missense_P284L,Missense_P284L 1:53543411-CT 1 53543411 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R313C,Missense_R294C,Missense_R294C 1:53543462-GA 1 53543462 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_E330K,Missense_E311K,Missense_E311K exm60021 1 53544108 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R357H,Missense_R338H,Missense_R338H 1:53544146-CT 1 53544146 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R370W,Missense_R351W,Missense_R351W exm60024 1 53544152 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_V372M,Missense_V353M,Missense_V353M exm60028 1 53544219 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R394Q,Missense_R375Q,Missense_R375Q rs62000444 1 53544271 [C/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Synonymous_T411T,Synonymous_T392T,Synonymous_T392T 1:53544329-CT 1 53544329 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R431C,Missense_R412C,Missense_R412C 1:53544426-GA 1 53544426 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R463H,Missense_R444H,Missense_R444H exm60041 1 53544449 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R471C,Missense_R452C,Missense_R452C exm1827907 1 53544471 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R478H,Missense_R459H,Missense_R459H exm60048 1 53544504 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R489Q,Missense_R470Q,Missense_R470Q 1:53544665-CA 1 53544665 [A/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_R543S,Missense_R524S,Missense_R524S 1:53546412-GA 1 53546412 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_A557T,Missense_A538T,Missense_A538T exm2233578 1 53546521 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Missense_T593M,Missense_T574M,Missense_T574M variant.3524 1 53547714 [T/C] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Nonsense_Q623X,Nonsense_Q604X,Nonsense_Q604X Variant37938 1 53547800 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Synonymous_E651E,Synonymous_E632E,Synonymous_E632E rs2282340 1 53551065 [A/G] NM_153703,NM_001199081,NM_001199080 PODN,PODN,PODN EXON Silent,Silent,Silent exm60089 1 53553754 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_Q596R,Missense_Q537R,Synonymous_A471A exm60090 1 53553767 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_V592I,Missense_V533I,Missense_R467H 1:53553854-CT 1 53553854 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_V563M,Missense_V504M,Missense_R438H 1:53553860-CA 1 53553860 [A/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Nonsense_E561X,Nonsense_E502X,Missense_G436V 1:53553885-GA 1 53553885 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Synonymous_C552C,Synonymous_C493C,Nonsense_R428X rs2306459 1 53554305 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs11583585 1 53554406 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent JHU_1.53554463 1 53554464 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent exm60099 1 53554565 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R542Q,Missense_R483Q,Missense_R411Q exm2275448 1 53554581 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R537W,Missense_R478W,Missense_R406W exm60103 1 53554640 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R517H,Missense_R458H,Missense_R386H JHU_1.53554679 1 53554680 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent 1:53555684-TG 1 53555684 [T/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent 1:53555752-TC 1 53555752 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent exm60122 1 53556422 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R422Q,Missense_R363Q,Missense_R291Q 1:53556495-CT 1 53556495 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_G398S,Silent,Silent JHU_1.53557321 1 53557322 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs1288404 1 53557484 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent JHU_1.53557881 1 53557882 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent 1:53558239-CT 1 53558239 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_A340T,Missense_A340T,Missense_A268T rs12129653 1 53558366 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Synonymous_S297S,Synonymous_S297S,Synonymous_S225S 1:53558388-CT 1 53558388 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_G290D,Missense_G290D,Missense_G218D exm60142 1 53558391 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_V289A,Missense_V289A,Missense_V217A exm60160 1 53559211 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_G240D,Missense_G240D,Missense_G168D exm60161 1 53559218 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R238C,Missense_R238C,Missense_R166C JHU_1.53559309 1 53559310 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs12031385 1 53559503 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs72907004 1 53560603 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs116882011 1 53562405 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent JHU_1.53562529 1 53562530 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs141509742 1 53563112 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent JHU_1.53564197 1 53564198 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent JHU_1.53564820 1 53564821 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs1288419 1 53564821 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent JHU_1.53564886 1 53564887 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent JHU_1.53565882 1 53565883 [A/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs3766775 1 53567546 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs2242274 1 53568980 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent 1:53569101-GA 1 53569101 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_P205L,Missense_P205L,Missense_P133L exm60174 1 53569120 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_A199T,Missense_A199T,Missense_A127T exm60177 1 53569179 [C/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_P179R,Missense_P179R,Missense_P107R exm60180 1 53569237 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R160C,Missense_R160C,Missense_R88C rs11206101 1 53570659 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent variant.3530 1 53571448 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597 SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent rs3753593 1 53574724 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs1288369 1 53575575 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs74085596 1 53575945 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs17377135 1 53577650 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs114684774 1 53578227 [A/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs17108022 1 53579109 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs3766781 1 53579182 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent 1:53580430-CT 1 53580430 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R144Q,Missense_R144Q,Silent,Missense_R144Q exm60188 1 53580433 [T/A] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_I143N,Missense_I143N,Silent,Missense_I143N chr1_53580438 1 53580438 [T/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_D141E,Missense_D141E,Silent,Missense_D141E exm60189 1 53580449 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_A138T,Missense_A138T,Silent,Missense_A138T exm60190 1 53580452 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_D137N,Missense_D137N,Silent,Missense_D137N 1:53580487-GA 1 53580487 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_T125M,Missense_T125M,Silent,Missense_T125M exm60200 1 53580545 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_V106M,Missense_V106M,Silent,Missense_V106M exm60205 1 53580593 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_V90I,Missense_V90I,Silent,Missense_V90I exm60207 1 53580601 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_R87H,Missense_R87H,Silent,Missense_R87H exm60210 1 53580635 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_G76R,Missense_G76R,Silent,Missense_G76R JHU_1.53580838 1 53580839 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent JHU_1.53581211 1 53581212 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent JHU_1.53581227 1 53581228 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs3820201 1 53581670 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs79883440 1 53582025 [A/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs6694834 1 53587179 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs2806271 1 53587718 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs144127773 1 53588919 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs3766792 1 53590423 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs115535739 1 53590713 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs3766794 1 53591463 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs11206104 1 53592830 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs1679965 1 53593017 [A/T] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs34100876 1 53596870 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs10888767 1 53598126 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent exm60215 1 53600047 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_M64V,Missense_M64V,Missense_M64V,Missense_M64V rs3737989 1 53600078 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Synonymous_P53P,Synonymous_P53P,Synonymous_P53P,Synonymous_P53P JHU_1.53600832 1 53600833 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent JHU_1.53601824 1 53601825 [A/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs1288367 1 53605884 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent rs11206109 1 53606080 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 Silent,Silent,Silent,Silent,Silent 1:53608037-CT 1 53608037 [T/C] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_V29M,Missense_V29M,Missense_V29M,Missense_V29M 1:53608086-GT 1 53608086 [T/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_D12E,Missense_D12E,Missense_D12E,Missense_D12E 1:53608114-GA 1 53608114 [A/G] NR_109858,NM_001287595,NM_006671,NM_001287597,NM_001287596 SLC1A7,SLC1A7,SLC1A7,SLC1A7,SLC1A7 EXON Silent,Missense_P3L,Missense_P3L,Missense_P3L,Missense_P3L rs34418279 1 53608425 [A/C] rs1320594 1 53610372 [A/C] rs12408730 1 53611605 [T/C] rs72670890 1 53611972 [A/G] 1:53612165-G-A 1 53612165 [A/G] 1:53612380-C-A 1 53612380 [A/C] rs10888768 1 53615541 [T/C] JHU_1.53618840 1 53618841 [A/C] 1:53619927-C-G 1 53619927 [G/C] rs1288344 1 53621345 [T/G] rs1288347 1 53622093 [A/G] 1:53623735-T-C 1 53623735 [T/C] rs6682324 1 53626014 [A/G] rs12119155 1 53626467 [T/C] JHU_1.53626772 1 53626773 [A/G] 1:53628061-G-A 1 53628061 [A/G] rs6695567 1 53629585 [A/G] rs6588467 1 53630304 [A/G] rs874349 1 53631902 [T/C] 1:53638446-C-T 1 53638446 [T/C] 1:53640239-C-T 1 53640239 [T/C] JHU_1.53640306 1 53640307 [T/C] rs7531337 1 53641911 [A/C] rs11206121 1 53643272 [A/G] rs6588471 1 53644967 [T/C] rs3102044 1 53646557 [T/C] 1:53647016-C-G 1 53647016 [G/C] 1:53647772-C-T 1 53647772 [T/C] rs186007498 1 53649065 [A/C] 1:53652710-C-T 1 53652710 [T/C] 1:53652951-T-C 1 53652951 [T/C] rs3014991 1 53654542 [A/G] rs117696138 1 53654939 [T/C] 1:53661048-C-T 1 53661048 [T/C] 1:53662618-GA 1 53662618 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_M1I,Missense_M1I Variant48466 1 53662737 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P41L,Missense_P41L 1:53662764-C-A 1 53662764 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P50H,Missense_P50H ilmnseq_rs28936375 1 53662764 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P50H,Missense_P50H rs28936375 1 53662764 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P50H,Missense_P50H rs59210999 1 53665165 [C/G] NM_000098,NM_001330589 CPT2,CPT2 Silent,Silent rs201966320 1 53666438 [G/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_A67G,Missense_A67G exm60233 1 53666456 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_N73S,Missense_N73S rs78117157 1 53666878 [T/C] NM_000098,NM_001330589 CPT2,CPT2 Silent,Silent exm60235 1 53667997 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_K79T,Missense_K79T exm60238 1 53668063 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_A101V,Missense_A101V 1:53668082-A-G 1 53668082 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_K107K,Synonymous_K107K ilmnseq_rs74315294 1 53668099 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S113L,Missense_S113L exm60241 1 53668099 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S113L,Missense_S113L ilmnseq_rs74315294_ilmndup1 1 53668099 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S113L,Missense_S113L ilmnseq_rs74315294_ilmndup2 1 53668099 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S113L,Missense_S113L ilmnseq_rs74315294_ilmndup3 1 53668099 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S113L,Missense_S113L seq-rs74315294 1 53668099 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S113L,Missense_S113L JHU_1.53669450 1 53669451 [T/C] NM_000098,NM_001330589 CPT2,CPT2 Silent,Silent rs12058755 1 53670451 [A/G] NM_000098,NM_001330589 CPT2,CPT2 Silent,Silent rs370493 1 53675049 [A/G] NM_000098,NM_001330589 CPT2,CPT2 Silent,Silent 1:53675055-C-T 1 53675055 [T/C] NM_000098,NM_001330589 CPT2,CPT2 Silent,Silent rs148035648 1 53675699 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_D118G,Missense_D118G exm60245 1 53675699 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_D118G,Missense_D118G 1:53675705-A-G 1 53675705 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_Y120C,Missense_Y120C rs121918528 1 53675705 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_Y120C,Missense_Y120C ilmnseq_rs121918528 1 53675705 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_Y120C,Missense_Y120C exm1827983 1 53675711 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S122F,Missense_S122F ilmnseq_rs201065226 1 53675716 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Nonsense_R124X,Nonsense_R124X 1:53675718-A-G 1 53675718 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_R124R,Synonymous_R124R exm60247 1 53675725 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V127I,Missense_V127I 1:53675745-A-G 1 53675745 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_P133P,Synonymous_P133P 1:53675752-GT 1 53675752 [T/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_A136S,Missense_A136S ilmnseq_rs515726177 1 53675798 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R151Q,Missense_R151Q Variant48474 1 53675798 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R151Q,Missense_R151Q exm60252 1 53675846 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R167Q,Missense_R167Q 1:53675857-C-T 1 53675857 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_L171L,Synonymous_L171L 1:53675866-G-A 1 53675866 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_E174K,Missense_E174K ilmnseq_rs28936674 1 53675866 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_E174K,Missense_E174K rs28936674 1 53675866 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_E174K,Missense_E174K 1:53675923-C-T 1 53675923 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R193C,Missense_R193C 1:53675934-T-C 1 53675934 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_P196P,Synonymous_P196P rs140853350 1 53675934 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_P196P,Synonymous_P196P variant.3537 1 53675949 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Nonsense_W201X,Nonsense_W201X 1:53675957-CT 1 53675957 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_A204V,Missense_A204V seq-rs796051942 1 53675977 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P211T,Missense_P211T 1:53675984-A-G 1 53675984 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_D213G,Missense_D213G ilmnseq_rs515726174 1 53675987 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_M214T,Missense_M214T rs74315298 1 53676026 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P227L,Missense_P227L ilmnseq_rs74315298 1 53676026 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P227L,Missense_P227L newrs74315298 1 53676026 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P227L,Missense_P227L Variant48477 1 53676037 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R231W,Missense_R231W rs373638740 1 53676037 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R231W,Missense_R231W seq-rs796051944 1 53676065 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_A240V,Missense_A240V 1:53676067-A-G 1 53676067 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R241G,Missense_R241G 1:53676192-C-T 1 53676192 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_P282P,Synonymous_P282P exm60266 1 53676196 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P284S,Missense_P284S 1:53676198-C-T 1 53676198 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_P284P,Synonymous_P284P 1:53676216-C-T 1 53676216 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_Y290Y,Synonymous_Y290Y 1:53676223-A-G 1 53676223 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S293G,Missense_S293G seq-rs727503887 1 53676232 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Nonsense_R296X,Nonsense_R296X Variant48479 1 53676233 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R296Q,Missense_R296Q exm60273 1 53676258 [T/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_Q304H,Missense_Q304H exm60277 1 53676278 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_N311S,Missense_N311S rs142790440 1 53676278 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_N311S,Missense_N311S Variant48480 1 53676323 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_C326Y,Missense_C326Y ilmnseq_rs515726175 1 53676329 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_D328G,Missense_D328G indel.3542 1 53676339 [I/D] NM_000098,NM_001330589 CPT2,CPT2 EXON 1:53676362-C-T 1 53676362 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S339F,Missense_S339F exm60280 1 53676371 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_M342T,Missense_M342T rs151003641 1 53676394 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R350C,Missense_R350C exm60282 1 53676394 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R350C,Missense_R350C exm60283 1 53676401 [T/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F352C,Missense_F352C rs2229291 1 53676401 [T/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F352C,Missense_F352C exm60284 1 53676448 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V368I,Missense_V368I rs1799821 1 53676448 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V368I,Missense_V368I 1:53676484-GA 1 53676484 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V380M,Missense_V380M 1:53676489-C-G 1 53676489 [G/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_L381L,Synonymous_L381L ilmnseq_rs515726176.2_F2BT 1 53676491 [G/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R382T,Missense_R382T ilmnseq_rs515726176.1_F2BT 1 53676491 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R382K,Missense_R382K rs74315295 1 53676494 [T/A] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F383Y,Missense_F383Y 1:53676494-T-A 1 53676494 [T/A] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F383Y,Missense_F383Y ilmnseq_rs74315295 1 53676494 [T/A] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F383Y,Missense_F383Y 1:53676535-G-A 1 53676535 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V397I,Missense_V397I 1:53676548-G-T 1 53676548 [T/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S401I,Missense_S401I 1:53676575-T-C 1 53676575 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V410A,Missense_V410A 1:53676578-CT 1 53676578 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_T411M,Missense_T411M ilmnseq_rs397509431 1 53676584 [D/I] NM_000098,NM_001330589 CPT2,CPT2 EXON 1:53676598-GA 1 53676598 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_E418K,Missense_E418K 1:53676605-C-A 1 53676605 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_T420N,Missense_T420N 1:53676630-A-G 1 53676630 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_T428T,Synonymous_T428T 1:53676650-AC 1 53676650 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_D435A,Missense_D435A 1:53676659-T-A 1 53676659 [A/T] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_M438K,Missense_M438K 1:53676681-C-T 1 53676681 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_C445C,Synonymous_C445C ilmnseq_rs74315297 1 53676688 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F448L,Missense_F448L var_1_53676688 1 53676688 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F448L,Missense_F448L rs74315297 1 53676688 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F448L,Missense_F448L 1:53676706-G-T 1 53676706 [T/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Nonsense_E454X,Nonsense_E454X Variant48484 1 53676715 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_K457E,Missense_K457E exm60300 1 53676718 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_K458Q,Missense_K458Q 1:53676738-C-T 1 53676738 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_D464D,Synonymous_D464D 1:53676750-G-A 1 53676750 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_Q468Q,Synonymous_Q468Q 1:53676768-C-A 1 53676768 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_A474A,Synonymous_A474A 1:53676774-G-A 1 53676774 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_L476L,Synonymous_L476L rs201508063 1 53676784 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_G480R,Missense_G480R exm60305 1 53676784 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_G480R,Missense_G480R Variant15908 1 53676787 [I/D] NM_000098,NM_001330589 CPT2,CPT2 EXON 1:53676823-GA 1 53676823 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_A493T,Missense_A493T ilmnseq_rs74315296 1 53676853 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R503C,Missense_R503C rs74315296 1 53676853 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R503C,Missense_R503C 1:53676853-C-T 1 53676853 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R503C,Missense_R503C Variant48490 1 53676857 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P504L,Missense_P504L rs368311455 1 53676857 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P504L,Missense_P504L 1:53676858-G-T 1 53676858 [T/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_P504P,Synonymous_P504P 1:53676864-C-T 1 53676864 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_S506S,Synonymous_S506S exm60313 1 53676865 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_V507I,Missense_V507I 1:53676891-C-T 1 53676891 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_A515A,Synonymous_A515A 1:53676905-CT 1 53676905 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P520L,Missense_P520L 1:53676924-T-C 1 53676924 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_G526G,Silent 1:53676948-G-A 1 53676948 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_E534E,Silent rs17848485 1 53676980 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_E545A,Silent exm60320 1 53676980 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_E545A,Silent rs80332673 1 53677119 [A/C] NM_000098,NM_001330589 CPT2,CPT2 Silent,Silent 1:53678728-C-T 1 53678728 [T/C] NM_000098,NM_001330589 CPT2,CPT2 Silent,Silent ilmnseq_rs186044004 1 53678936 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_G549D,Missense_G526D rs186044004 1 53678936 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_G549D,Missense_G526D Variant48491 1 53678936 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_G549D,Missense_G526D 1:53678939 1 53678939 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_Q550R,Missense_Q527R CPT2:c.1649A>G 1 53678939 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_Q550R,Missense_Q527R rs28936376 1 53678947 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_D553N,Missense_D530N 1:53678947-G-A 1 53678947 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_D553N,Missense_D530N Variant48493 1 53678950 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Nonsense_R554X,Nonsense_R531X 1:53678964-T-G 1 53678964 [T/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_A558A,Synonymous_A535A exm60324 1 53679053 [C/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S588C,Missense_S565C rs1871748 1 53679053 [C/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S588C,Missense_S565C 1:53679057-G-A 1 53679057 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_T589T,Synonymous_T566T 1:53679066-G-A 1 53679066 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_L592L,Synonymous_L569L Variant15909 1 53679072 [D/I] NM_000098,NM_001330589 CPT2,CPT2 EXON 1:53679096-T-C 1 53679096 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_F602F,Synonymous_F579F CPT2:c.1810C>T 1 53679100 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P604S,Missense_P581S 1:53679100 1 53679100 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_P604S,Missense_P581S rs201913567 1 53679110 [G/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S607C,Missense_S584C Variant37942 1 53679141 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Synonymous_H617H,Synonymous_H594H ilmnseq_rs28936673 1 53679173 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_Y628S,Missense_Y605S 1:53679173-A-C 1 53679173 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_Y628S,Missense_Y605S rs28936673 1 53679173 [A/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_Y628S,Missense_Y605S rs74315293 1 53679181 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R631C,Missense_R608C 1:53679181-C-T 1 53679181 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R631C,Missense_R608C ilmnseq_rs74315293 1 53679181 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_R631C,Missense_R608C exm60331 1 53679229 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_M647V,Missense_M624V exm60332 1 53679231 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_M647I,Missense_M624I exm60333 1 53679233 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_F648S,Missense_F625S 1:53679253-TC 1 53679253 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Missense_S655P,Missense_S632P 1:53679289-A-T 1 53679289 [A/T] NM_000098,NM_001330589 CPT2,CPT2 EXON Silent,Silent 1:53679322-C-T 1 53679322 [T/C] NM_000098,NM_001330589 CPT2,CPT2 EXON Silent,Silent 1:53679327-A-G 1 53679327 [A/G] NM_000098,NM_001330589 CPT2,CPT2 EXON Silent,Silent Variant12390 1 53680396 [D/I] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 EXON 1:53681699-TG 1 53681699 [T/G] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 EXON Synonymous_S76S,Synonymous_S104S,Synonymous_S123S exm60339 1 53681725 [T/C] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 EXON Missense_G68R,Missense_G96R,Missense_G115R variant.3552 1 53682457 [T/C] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 EXON Synonymous_P65P,Synonymous_P93P,Synonymous_P112P variant.3553 1 53682533 [T/C] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 Silent,Silent,Silent exm2233584 1 53684087 [A/G] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 EXON Synonymous_I29I,Synonymous_I57I,Synonymous_I76I 1:53684128-TC 1 53684128 [T/C] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 EXON Missense_M16V,Missense_M44V,Missense_M63V var_1_53684538 1 53684538 [T/C] NM_001304760,NM_001304759,NM_017887 C1orf123,C1orf123,C1orf123 Silent,Silent,Silent 1:53685968-GA 1 53685968 [A/G] NM_001304760,NM_001304759,NM_017887,NR_130897 C1orf123,C1orf123,C1orf123,C1orf123 EXON Silent,Missense_R19W,Missense_R19W,Silent rs6663121 1 53687589 [T/C] 1:53690097-G-A 1 53690097 [A/G] JHU_1.53691324 1 53691325 [A/G] rs13375749 1 53695882 [T/C] NM_002370 MAGOH Silent rs10788949 1 53696051 [T/C] NM_002370 MAGOH Silent exm2268687 1 53696784 [T/G] NM_002370 MAGOH Silent rs140348522 1 53699093 [T/C] NM_002370 MAGOH Silent rs2297656 1 53701581 [A/G] NM_002370 MAGOH Silent 1:53703670-A-G 1 53703670 [A/G] NM_002370 MAGOH Silent 1:53703973-T-C 1 53703973 [T/C] NM_002370 MAGOH Silent rs183980869 1 53711127 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Silent,Silent,Silent exm60394 1 53712727 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R782Q,Missense_R689Q,Missense_R952Q,Missense_R893Q rs10788950 1 53713336 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent 1:53713498-C-T 1 53713498 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs12031155 1 53714139 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent exm60401 1 53715167 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_P743L,Silent,Missense_P913L,Silent JHU_1.53715461 1 53715462 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent exm60403 1 53716410 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_D706D,Synonymous_D672D,Synonymous_D876D,Synonymous_D876D exm60404 1 53716416 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_D704D,Synonymous_D670D,Synonymous_D874D,Synonymous_D874D rs3737983 1 53716416 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_D704D,Synonymous_D670D,Synonymous_D874D,Synonymous_D874D rs72895329 1 53720574 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent variant.3559 1 53722912 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_Y642D,Silent,Missense_Y812D,Missense_Y812D exm60412 1 53722932 [G/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_T635S,Silent,Missense_T805S,Missense_T805S rs144428724 1 53722932 [G/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_T635S,Silent,Missense_T805S,Missense_T805S exm60413 1 53722953 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_P628L,Silent,Missense_P798L,Missense_P798L 1:53723053-CT 1 53723053 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_V595I,Silent,Missense_V765I,Missense_V765I exm1828071 1 53723093 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_T581T,Silent,Synonymous_T751T,Synonymous_T751T exm60423 1 53723993 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R566Q,Missense_R607Q,Missense_R736Q,Missense_R736Q rs5172 1 53723993 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R566Q,Missense_R607Q,Missense_R736Q,Missense_R736Q exm60426 1 53724026 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_M555R,Missense_M596R,Missense_M725R,Missense_M725R rs139703435 1 53724026 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_M555R,Missense_M596R,Missense_M725R,Missense_M725R exm2233587 1 53726194 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_A496A,Synonymous_A537A,Synonymous_A666A,Synonymous_A666A exm2276893 1 53726226 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R486W,Missense_R527W,Missense_R656W,Missense_R656W exm60444 1 53728180 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_N401S,Missense_N442S,Missense_N571S,Missense_N571S 1:53728797-A-G 1 53728797 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent exm60445 1 53729844 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R381Q,Missense_R422Q,Missense_R551Q,Missense_R551Q rs202186923 1 53729868 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R373Q,Missense_R414Q,Missense_R543Q,Missense_R543Q 1:53729886-CT 1 53729886 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R367H,Missense_R408H,Missense_R537H,Missense_R537H rs201001947 1 53729904 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R361Q,Missense_R402Q,Missense_R531Q,Missense_R531Q rs200274677 1 53730021 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_I322T,Missense_I363T,Missense_I492T,Missense_I492T exm1828090 1 53730068 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_S306S,Synonymous_S347S,Synonymous_S476S,Synonymous_S476S rs140949391 1 53732157 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R302H,Missense_R343H,Missense_R472H,Missense_R472H exm60464 1 53732184 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R293H,Missense_R334H,Missense_R463H,Missense_R463H 1:53732185-GA 1 53732185 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R293C,Missense_R334C,Missense_R463C,Missense_R463C exm60465 1 53732215 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_V283M,Missense_V324M,Missense_V453M,Missense_V453M exm60466 1 53732217 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_V282A,Missense_V323A,Missense_V452A,Missense_V452A 1:53732274-CT 1 53732274 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R263Q,Missense_R304Q,Missense_R433Q,Missense_R433Q exm60470 1 53732286 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R259Q,Missense_R300Q,Missense_R429Q,Missense_R429Q exm60474 1 53736706 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_A246S,Missense_A287S,Missense_A416S,Missense_A416S exm60480 1 53736959 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_I186V,Missense_I227V,Missense_I356V,Missense_I356V exm1828103 1 53737015 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_L167P,Missense_L208P,Missense_L337P,Missense_L337P JHU_1.53738914 1 53738915 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent exm60486 1 53741391 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Synonymous_C177C,Synonymous_C306C,Synonymous_C306C 1:53741410-CT 1 53741410 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Missense_R171H,Missense_R300H,Missense_R300H 1:53742372-GT 1 53742372 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Silent,Missense_A292D,Missense_A292D 1:53742406-CA 1 53742406 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Silent,Missense_G281C,Missense_G281C 1:53742526-CT 1 53742526 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Silent,Missense_A241T,Missense_A241T 1:53742565-AC 1 53742565 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Silent,Silent,Missense_C228G,Missense_C228G 1:53746337-TG 1 53746337 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_K140Q,Missense_K140Q,Missense_K140Q,Missense_K140Q exm60515 1 53746346 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_T137P,Missense_T137P,Missense_T137P,Missense_T137P JHU_1.53750218 1 53750219 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent JHU_1.53752990 1 53752991 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent JHU_1.53754298 1 53754299 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs6685032 1 53754361 [C/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs17108202 1 53754891 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent 1:53755302-GA 1 53755302 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_R102W,Missense_R102W,Missense_R102W,Missense_R102W rs1288509 1 53755911 [G/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs1288502 1 53757154 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent JHU_1.53757256 1 53757257 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs1288499 1 53757935 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs55901136 1 53761755 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent JHU_1.53762211 1 53762212 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs2297824 1 53763851 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs11583743 1 53764060 [T/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs2782500 1 53764635 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs11206140 1 53765434 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent JHU_1.53765472 1 53765473 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs867884 1 53766972 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs115038483 1 53771860 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs11206141 1 53774532 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent JHU_1.53775875 1 53775876 [G/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent JHU_1.53777338 1 53777339 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs2788034 1 53777513 [T/A] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs2788032 1 53777631 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs10449749 1 53777964 [G/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs12062223 1 53778459 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs1288479 1 53778904 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent JHU_1.53781847 1 53781848 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs72895386 1 53782812 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent JHU_1.53784024 1 53784025 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs17108323 1 53784159 [T/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs1288520 1 53787633 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs188981666 1 53791638 [A/G] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent exm60528 1 53792651 [A/C] NM_033300,NM_017522,NM_004631,NM_001018054 LRP8,LRP8,LRP8,LRP8 EXON Missense_D46E,Missense_D46E,Missense_D46E,Missense_D46E JHU_1.53794417 1 53794418 [T/G] NR_131923 LINC01771 Silent rs141514256 1 53796206 [A/G] NR_131923 LINC01771 Silent JHU_1.53799019 1 53799020 [A/G] NR_131923 LINC01771 Silent rs79981276 1 53802690 [T/C] rs76324667 1 53802696 [T/C] JHU_1.53803046 1 53803047 [A/G] JHU_1.53805530 1 53805531 [T/C] rs2782493 1 53807803 [T/C] JHU_1.53808588 1 53808589 [A/G] rs1416096 1 53808658 [T/C] rs12075186 1 53810030 [A/G] 1:53812211-C-T 1 53812211 [T/C] rs10888780 1 53813684 [A/G] rs114084554 1 53813735 [T/C] rs7535922 1 53814038 [T/C] JHU_1.53814185 1 53814186 [A/G] rs6658926 1 53817135 [T/C] rs6588474 1 53817220 [T/C] JHU_1.53818936 1 53818937 [T/C] rs113037082 1 53824304 [T/G] rs12135186 1 53824428 [T/C] JHU_1.53824851 1 53824852 [A/T] JHU_1.53829139 1 53829140 [T/G] rs1999897 1 53829729 [T/C] 1:53832824-C-T 1 53832824 [T/C] JHU_1.53833718 1 53833719 [T/C] rs74377414 1 53835745 [A/G] rs1999899 1 53838156 [T/G] JHU_1.53840248 1 53840249 [G/C] rs117832746 1 53840393 [T/G] rs12746317 1 53844161 [A/G] rs17108398 1 53845985 [A/G] rs17108402 1 53846253 [A/G] rs12027932 1 53846403 [A/C] JHU_1.53848486 1 53848487 [A/G] rs12240062 1 53851165 [T/C] rs11206153 1 53852469 [A/G] JHU_1.53856364 1 53856365 [T/G] rs72675137 1 53856739 [A/G] JHU_1.53857714 1 53857715 [T/C] JHU_1.53859823 1 53859824 [T/C] JHU_1.53860357 1 53860358 [T/C] rs181151162 1 53861963 [A/C] JHU_1.53866574 1 53866575 [A/G] rs12059892 1 53866793 [C/G] rs143500834 1 53867171 [C/G] rs1288590 1 53868891 [A/G] rs114216682 1 53871085 [G/C] JHU_1.53872136 1 53872137 [A/C] rs61768382 1 53873140 [A/G] rs12039843 1 53874063 [T/C] rs11206154 1 53877199 [T/G] rs6656566 1 53878651 [A/G] rs6686055 1 53881081 [T/C] rs76293152 1 53882517 [T/C] JHU_1.53883774 1 53883775 [A/C] rs77611769 1 53883775 [A/C] JHU_1.53885229 1 53885230 [A/G] rs147629483 1 53886275 [T/C] rs12023145 1 53896599 [T/C] rs78978208 1 53896800 [A/C] JHU_1.53897817 1 53897818 [A/T] JHU_1.53898361 1 53898362 [A/G] rs1766643 1 53901837 [T/C] JHU_1.53905484 1 53905485 [T/G] NR_002314 SLC25A3P1 EXON Silent rs59113458 1 53908908 [A/C] rs11206160 1 53911812 [C/G] rs9436924 1 53913080 [T/C] JHU_1.53918871 1 53918872 [T/C] rs1288627 1 53924150 [T/C] 1:53925134-AG 1 53925134 [A/G] NM_033067 DMRTB1 EXON Missense_D3G exm60543 1 53925247 [T/C] NM_033067 DMRTB1 EXON Missense_Y41H 1:53925280-GA 1 53925280 [A/G] NM_033067 DMRTB1 EXON Missense_A52T 1:53925305-CA 1 53925305 [A/C] NM_033067 DMRTB1 EXON Missense_A60D 1:53925695-CA 1 53925695 [A/C] NM_033067 DMRTB1 EXON Missense_T190N rs1288628 1 53926037 [T/G] NM_033067 DMRTB1 Silent rs188558860 1 53926426 [T/C] NM_033067 DMRTB1 Silent exm1828230 1 53927173 [A/G] NM_033067 DMRTB1 EXON Missense_R202H 1:53927251-CT 1 53927251 [T/C] NM_033067 DMRTB1 EXON Missense_P228L exm60579 1 53930386 [T/C] NM_033067 DMRTB1 EXON Missense_P276L 1:53930443-TC 1 53930443 [T/C] NM_033067 DMRTB1 EXON Missense_L295P rs943514 1 53930551 [A/G] NM_033067 DMRTB1 Silent exm60593 1 53932322 [A/G] NM_033067 DMRTB1 EXON Missense_E339G rs11579521 1 53936383 [A/G] rs11579575 1 53936718 [T/G] JHU_1.53939708 1 53939709 [A/G] JHU_1.53939842 1 53939843 [C/G] rs11206162 1 53944430 [A/C] exm2260425 1 53946644 [A/G] rs12027731 1 53946718 [A/G] JHU_1.53949291 1 53949292 [A/G] rs12125544 1 53950781 [T/C] JHU_1.53950780 1 53950781 [T/C] rs1288617 1 53952141 [A/G] JHU_1.53966329 1 53966330 [A/G] JHU_1.53967064 1 53967065 [T/C] JHU_1.53969247 1 53969248 [A/T] JHU_1.53970391 1 53970392 [T/C] JHU_1.53971374 1 53971375 [T/C] rs17108642 1 53971807 [T/C] 1:53972347-TC 1 53972347 [T/C] NM_147193 GLIS1 EXON Missense_N603S exm60604 1 53972360 [A/C] NM_147193 GLIS1 EXON Missense_G599C JHU_1.53973040 1 53973041 [C/G] NM_147193 GLIS1 Silent JHU_1.53973352 1 53973353 [G/C] NM_147193 GLIS1 Silent JHU_1.53973639 1 53973640 [T/G] NM_147193 GLIS1 Silent exm60612 1 53974837 [T/C] NM_147193 GLIS1 EXON Missense_R554Q exm60613 1 53974838 [A/G] NM_147193 GLIS1 EXON Missense_R554W 1:53974883-CT 1 53974883 [T/C] NM_147193 GLIS1 EXON Missense_G539S exm60622 1 53974903 [T/C] NM_147193 GLIS1 EXON Missense_R532Q 1:53974903-CT 1 53974903 [T/C] NM_147193 GLIS1 EXON Missense_R532Q exm2233592 1 53974913 [T/C] NM_147193 GLIS1 EXON Missense_D529N 1:53974953-CA 1 53974953 [A/C] NM_147193 GLIS1 EXON Missense_Q515H 1:53975644-GA 1 53975644 [A/G] NM_147193 GLIS1 EXON Missense_P472L 1:53975650-CA 1 53975650 [A/C] NM_147193 GLIS1 EXON Missense_G470V 1:53975678-GA 1 53975678 [A/G] NM_147193 GLIS1 EXON Missense_P461S 1:53975686-AG 1 53975686 [A/G] NM_147193 GLIS1 EXON Missense_L458P rs2280511 1 53976188 [T/C] NM_147193 GLIS1 Silent exm-rs6588480 1 53978119 [A/G] NM_147193 GLIS1 Silent exm60636 1 53980367 [A/G] NM_147193 GLIS1 EXON Missense_P430L JHU_1.53980388 1 53980389 [T/C] NM_147193 GLIS1 EXON Missense_D423N exm60642 1 53980431 [A/G] NM_147193 GLIS1 EXON Missense_P409S rs873106 1 53983472 [T/C] NM_147193 GLIS1 Silent 1:53986409-CT 1 53986409 [T/C] NM_147193 GLIS1 EXON Missense_V367I exm2252130 1 53986422 [A/G] NM_147193 GLIS1 EXON Synonymous_D362D rs545467 1 53987000 [A/C] NM_147193 GLIS1 Silent JHU_1.53987468 1 53987469 [A/G] NM_147193 GLIS1 Silent rs10888794 1 53989785 [A/C] NM_147193 GLIS1 Silent exm60656 1 53990457 [T/C] NM_147193 GLIS1 EXON Missense_R354H exm60658 1 53990491 [T/C] NM_147193 GLIS1 EXON Missense_V343I 1:53525463_53525464ins 1 53991136 [D/I] NM_147193 GLIS1 JHU_1.53991135 1 53991136 [A/G] NM_147193 GLIS1 Silent JHU_1.53992514 1 53992515 [T/C] NM_147193 GLIS1 Silent rs7528586 1 53994733 [A/G] NM_147193 GLIS1 Silent rs3855966 1 53994981 [T/C] NM_147193 GLIS1 Silent exm60676 1 53995598 [A/G] NM_147193 GLIS1 EXON Missense_R275W rs542238 1 53996718 [T/G] NM_147193 GLIS1 Silent rs118093347 1 53998571 [G/C] NM_147193 GLIS1 Silent rs76511903 1 53998923 [A/G] NM_147193 GLIS1 Silent rs113020391 1 54001468 [A/C] NM_147193 GLIS1 Silent rs17108689 1 54001692 [A/G] NM_147193 GLIS1 Silent rs12121497 1 54001820 [T/C] NM_147193 GLIS1 Silent JHU_1.54003782 1 54003783 [T/C] NM_147193 GLIS1 Silent rs11206169 1 54005060 [T/C] NM_147193 GLIS1 Silent rs76608674 1 54005320 [T/C] NM_147193 GLIS1 Silent rs12403311 1 54007863 [T/C] NM_147193 GLIS1 Silent rs61770264 1 54008032 [A/G] NM_147193 GLIS1 Silent rs41363049 1 54009583 [T/C] NM_147193 GLIS1 Silent rs149306422 1 54009890 [A/G] NM_147193 GLIS1 Silent rs11206170 1 54010926 [A/G] NM_147193 GLIS1 Silent JHU_1.54011502 1 54011503 [C/G] NM_147193 GLIS1 Silent JHU_1.54017225 1 54017226 [A/G] NM_147193 GLIS1 Silent 1:54017923-T-C 1 54017923 [T/C] NM_147193 GLIS1 Silent rs11206171 1 54018427 [A/G] NM_147193 GLIS1 Silent rs501339 1 54018932 [A/G] NM_147193 GLIS1 Silent JHU_1.54019131 1 54019132 [A/G] NM_147193 GLIS1 Silent JHU_1.54022162 1 54022163 [T/G] NM_147193 GLIS1 Silent rs4575030 1 54024808 [T/C] NM_147193 GLIS1 Silent rs529674 1 54026880 [T/C] NM_147193 GLIS1 Silent rs4548383 1 54027035 [T/C] NM_147193 GLIS1 Silent JHU_1.54029775 1 54029776 [A/G] NM_147193 GLIS1 Silent JHU_1.54031145 1 54031146 [T/C] NM_147193 GLIS1 Silent rs182175632 1 54031475 [C/G] NM_147193 GLIS1 Silent JHU_1.54031894 1 54031895 [T/C] NM_147193 GLIS1 Silent JHU_1.54035310 1 54035311 [A/G] NM_147193 GLIS1 Silent JHU_1.54036316 1 54036317 [C/G] NM_147193 GLIS1 Silent rs3013760 1 54036593 [A/G] NM_147193 GLIS1 Silent rs10493174 1 54038536 [A/C] NM_147193 GLIS1 Silent rs3108389 1 54039019 [A/G] NM_147193 GLIS1 Silent JHU_1.54042386 1 54042387 [A/G] NM_147193 GLIS1 Silent rs2950250 1 54042714 [T/G] NM_147193 GLIS1 Silent rs3108391 1 54042889 [T/C] NM_147193 GLIS1 Silent rs11585344 1 54043786 [A/G] NM_147193 GLIS1 Silent rs74084750 1 54047792 [A/G] NM_147193 GLIS1 Silent rs77986926 1 54050756 [A/C] NM_147193 GLIS1 Silent JHU_1.54051895 1 54051896 [T/C] NM_147193 GLIS1 Silent rs2948045 1 54051898 [T/C] NM_147193 GLIS1 Silent rs74084756 1 54054547 [A/G] NM_147193 GLIS1 Silent exm60686 1 54059857 [T/C] NM_147193 GLIS1 EXON Missense_Y240C exm60687 1 54059861 [C/G] NM_147193 GLIS1 EXON Missense_R239G 1:54059936-GA 1 54059936 [A/G] NM_147193 GLIS1 EXON Missense_R214W exm60693 1 54059956 [T/C] NM_147193 GLIS1 EXON Missense_E207G exm60704 1 54060049 [T/C] NM_147193 GLIS1 EXON Missense_G176D 1:54060107-AG 1 54060107 [A/G] NM_147193 GLIS1 EXON Missense_F157L exm60710 1 54060109 [A/G] NM_147193 GLIS1 EXON Missense_L156P exm1828668 1 54060127 [A/G] NM_147193 GLIS1 EXON Missense_A150V 1:54060151-GA 1 54060151 [A/G] NM_147193 GLIS1 EXON Missense_A142V exm60719 1 54060248 [T/C] NM_147193 GLIS1 EXON Missense_T110A 1:54060385-CT 1 54060385 [T/C] NM_147193 GLIS1 EXON Missense_R64Q exm60731 1 54060428 [T/C] NM_147193 GLIS1 EXON Missense_G50S rs150231952 1 54061659 [T/G] NM_147193 GLIS1 Silent rs72675202 1 54062619 [T/G] NM_147193 GLIS1 Silent JHU_1.54065284 1 54065285 [A/G] NM_147193 GLIS1 Silent rs10788959 1 54068567 [T/G] NM_147193 GLIS1 Silent JHU_1.54070724 1 54070725 [T/C] NM_147193 GLIS1 Silent rs17382457 1 54071428 [A/G] NM_147193 GLIS1 Silent rs2948048 1 54074729 [A/G] NM_147193 GLIS1 Silent JHU_1.54079432 1 54079433 [T/C] NM_147193 GLIS1 Silent rs193266692 1 54085485 [T/C] NM_147193 GLIS1 Silent rs3006899 1 54085864 [T/C] NM_147193 GLIS1 Silent rs12405264 1 54092573 [A/G] NM_147193 GLIS1 Silent JHU_1.54092978 1 54092979 [T/C] NM_147193 GLIS1 Silent rs115174366 1 54094116 [T/C] NM_147193 GLIS1 Silent rs145070517 1 54100837 [A/G] NM_147193 GLIS1 Silent rs6679903 1 54101062 [A/G] NM_147193 GLIS1 Silent rs11801755 1 54111547 [C/G] NM_147193 GLIS1 Silent rs7529819 1 54114033 [T/C] NM_147193 GLIS1 Silent JHU_1.54118234 1 54118235 [T/C] NM_147193 GLIS1 Silent rs2141079 1 54120873 [T/C] NM_147193 GLIS1 Silent JHU_1.54121132 1 54121133 [A/G] NM_147193 GLIS1 Silent rs12031794 1 54121818 [T/C] NM_147193 GLIS1 Silent rs1918176 1 54122797 [T/G] NM_147193 GLIS1 Silent JHU_1.54123266 1 54123267 [A/G] NM_147193 GLIS1 Silent JHU_1.54123278 1 54123279 [A/G] NM_147193 GLIS1 Silent rs74402211 1 54125882 [T/C] NM_147193 GLIS1 Silent rs17383325 1 54126552 [C/G] NM_147193 GLIS1 Silent JHU_1.54127054 1 54127055 [T/C] NM_147193 GLIS1 Silent JHU_1.54127776 1 54127777 [A/G] NM_147193 GLIS1 Silent rs59476366 1 54130015 [T/C] NM_147193 GLIS1 Silent rs77279415 1 54130244 [A/T] NM_147193 GLIS1 Silent JHU_1.54131061 1 54131062 [A/G] NM_147193 GLIS1 Silent rs4927025 1 54131753 [T/C] NM_147193 GLIS1 Silent JHU_1.54141543 1 54141544 [A/G] NM_147193 GLIS1 Silent rs57634341 1 54146291 [A/G] NM_147193 GLIS1 Silent JHU_1.54151610 1 54151611 [A/G] NM_147193 GLIS1 Silent rs882879 1 54154726 [T/G] NM_147193 GLIS1 Silent rs113849410 1 54156204 [T/C] NM_147193 GLIS1 Silent rs11586794 1 54157022 [A/C] NM_147193 GLIS1 Silent rs75154312 1 54158349 [A/G] NM_147193 GLIS1 Silent JHU_1.54160557 1 54160558 [T/C] NM_147193 GLIS1 Silent JHU_1.54161513 1 54161514 [C/G] NM_147193 GLIS1 Silent JHU_1.54164155 1 54164156 [T/C] NM_147193 GLIS1 Silent rs1780395 1 54165699 [T/G] NM_147193 GLIS1 Silent rs11206202 1 54174607 [A/G] NM_147193 GLIS1 Silent rs17109196 1 54175540 [G/C] NM_147193 GLIS1 Silent rs11206205 1 54177891 [T/C] NM_147193 GLIS1 Silent rs150541598 1 54178626 [A/C] NM_147193 GLIS1 Silent rs11579257 1 54187449 [T/C] NM_147193 GLIS1 Silent rs797906 1 54190695 [A/C] NM_147193 GLIS1 Silent rs702491 1 54194992 [T/C] NM_147193 GLIS1 Silent rs808860 1 54196929 [T/C] NM_147193 GLIS1 Silent rs797912 1 54198417 [T/C] NM_147193 GLIS1 Silent JHU_1.54198468 1 54198469 [A/C] NM_147193 GLIS1 Silent rs797914 1 54199537 [T/C] NM_147193 GLIS1 Silent rs72900605 1 54211525 [C/G] rs180863554 1 54217427 [T/G] JHU_1.54221236 1 54221237 [T/G] JHU_1.54221334 1 54221335 [A/G] JHU_1.54223197 1 54223198 [T/C] rs72660700 1 54223746 [A/G] JHU_1.54223907 1 54223908 [T/C] var_1_54233708 1 54233708 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent exm60748 1 54238077 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_T589I,Missense_T629I,Silent rs187391331 1 54247324 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent JHU_1.54248495 1 54248496 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent JHU_1.54252197 1 54252198 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent exm2275450 1 54252866 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_P549S,Missense_P589S,Silent 1:54252924-CT 1 54252924 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Synonymous_S529S,Synonymous_S569S,Silent JHU_1.54253558 1 54253559 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent exm60762 1 54258913 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_F502L,Missense_F542L,Silent 1:54258931-GA 1 54258931 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_R496W,Missense_R536W,Silent 1:54262400-TC 1 54262400 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_S476G,Missense_S516G,Silent rs74978378 1 54262517 [T/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent exm60769 1 54262625 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_P432L,Missense_P472L,Silent exm60772 1 54262750 [T/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_K390N,Missense_K430N,Silent 1:54262776-GA 1 54262776 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_R382W,Missense_R422W,Silent rs1181180 1 54264996 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent JHU_1.54266777 1 54266778 [A/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent JHU_1.54271829 1 54271830 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent 1:54272112-GA 1 54272112 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_P284S,Missense_P324S,Silent rs1181145 1 54272330 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent variant.3569 1 54273328 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent exm60792 1 54273436 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_S222G,Missense_S262G,Silent rs10489461 1 54289020 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent exm60803 1 54291506 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_N147D,Missense_N187D,Silent exm60808 1 54293704 [T/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_S101R,Missense_S141R,Silent exm60812 1 54293811 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Silent,Missense_I106V,Silent rs4927040 1 54294766 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 Silent,Silent,Silent 1:54298190-CTTA-C 1 54298190 [I/D] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON exm60821 1 54301186 [T/C] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_I55M,Missense_I55M,Silent exm2233597 1 54301224 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_F43L,Missense_F43L,Silent exm60822 1 54301238 [T/A] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_I38N,Missense_I38N,Silent exm60823 1 54301284 [A/G] NM_001168551,NM_018087,NR_033142 NDC1,NDC1,NDC1 EXON Missense_W23R,Missense_W23R,Silent rs17388570 1 54311234 [T/C] rs4354491 1 54314043 [T/C] JHU_1.54314698 1 54314699 [T/C] JHU_1.54314920 1 54314921 [A/G] rs11206224 1 54314924 [A/C] JHU_1.54314929 1 54314930 [T/G] JHU_1.54319407 1 54319408 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent rs11206226 1 54320337 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent rs56320848 1 54320905 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent rs75514548 1 54321013 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent rs6588492 1 54328025 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent JHU_1.54330264 1 54330265 [T/A] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent rs146789791 1 54330591 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent exm60833 1 54331901 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_L268P,Silent,Silent exm60834 1 54331911 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_I265V,Silent,Silent 1:54331938-GA 1 54331938 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_R256C,Silent,Silent newrs141323348 1 54331941 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Nonsense_R255X,Silent,Silent exm60836 1 54331941 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Nonsense_R255X,Silent,Silent exm60838 1 54331973 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_M244T,Silent,Silent exm60840 1 54332024 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_R227H,Silent,Silent exm1830849 1 54332025 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_R227C,Silent,Silent variant.3573 1 54332037 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Nonsense_Q223X,Silent,Silent 1:54332444-TC 1 54332444 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_Y212C,Silent,Silent 1:54332510-AG 1 54332510 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_V190A,Silent,Silent exm2268688 1 54333594 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent JHU_1.54335545 1 54335546 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent exm60847 1 54337043 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent exm60849 1 54337068 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_H153R,Silent,Silent exm60850 1 54337074 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_T151M,Silent,Silent rs10788964 1 54341947 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent rs76103914 1 54341967 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent rs7548793 1 54343342 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent rs192279477 1 54343494 [A/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent 1:54344282-C-A 1 54344282 [A/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent variant.3575 1 54348786 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Synonymous_E65E,Silent,Silent 1:54348826-ATCT-A 1 54348826 [I/D] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON 1:54348881-CT 1 54348881 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_G34S,Silent,Silent exm60870 1 54348892 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_I30T,Silent,Silent rs926456 1 54354165 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 Silent,Silent,Silent,Silent variant.3576 1 54354580 [T/C] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Missense_E11K,Silent,Silent variant.3577 1 54354613 [A/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Silent,Silent,Silent exm60875 1 54354658 [T/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Silent,Silent,Silent rs2294508 1 54354658 [T/G] NR_036639,NM_018982,NR_036640,NR_135075 YIPF1,YIPF1,YIPF1,YIPF1 EXON Silent,Silent,Silent,Silent JHU_1.54356360 1 54356361 [A/C] exm2252151 1 54359937 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Synonymous_E18E,Silent,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Silent exm60880 1 54359937 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Synonymous_E18E,Silent,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Silent variant.3579 1 54359959 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_G26S,Silent,Missense_G26S,Missense_G26S,Missense_G26S,Missense_G26S,Silent 1:54359999-GA 1 54359999 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_R39Q,Silent,Missense_R39Q,Missense_R39Q,Missense_R39Q,Missense_R39Q,Silent exm60885 1 54360030 [T/A] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Synonymous_G49G,Silent,Synonymous_G49G,Synonymous_G49G,Silent,Synonymous_G49G,Silent 1:54360103-GA 1 54360103 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_V74I,Silent,Missense_V74I,Missense_V74I,Silent,Missense_V74I,Silent exm1831110 1 54360137 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_T85M,Silent,Missense_T85M,Missense_T85M,Silent,Missense_T85M,Silent exm60895 1 54360178 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_R99C,Silent,Missense_R99C,Missense_R99C,Silent,Missense_R99C,Silent JHU_1.54361100 1 54361101 [T/A] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.54361151 1 54361152 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2268181 1 54361288 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.54368919 1 54368920 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.54370263 1 54370264 [T/A] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.54370305 1 54370306 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.54370774 1 54370775 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm60903 1 54371825 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_R180H,Silent,Silent,Missense_R132H,Missense_R116H,Silent,Silent exm60905 1 54371837 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_A184V,Silent,Silent,Missense_A136V,Missense_A120V,Silent,Silent 1:54371889-GA 1 54371889 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_M201I,Silent,Silent,Missense_M153I,Missense_M137I,Silent,Silent 1:54371914-GA 1 54371914 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_A210T,Silent,Silent,Missense_A162T,Missense_A146T,Silent,Silent rs144115078 1 54372103 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17109582 1 54375348 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2235544 1 54375570 [A/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs148364500 1 54375637 [A/G] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_E239K,Silent,Silent,Missense_E191K,Missense_E175K,Silent,Silent 1:54375643-CT 1 54375643 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Missense_R241C,Silent,Silent,Missense_R193C,Missense_R177C,Silent,Silent rs11206244 1 54375701 [T/C] NM_000792,NR_136692,NM_001324316,NM_001039715,NM_213593,NM_001039716,NR_136693 DIO1,DIO1,DIO1,DIO1,DIO1,DIO1,DIO1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116122090 1 54379203 [T/C] rs76955023 1 54380912 [T/C] rs12063777 1 54381406 [T/C] JHU_1.54382356 1 54382357 [C/G] exm1831396 1 54387395 [T/C] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON Silent,Silent,Missense_A122T,Missense_A122T 1:54387412-CA 1 54387412 [A/C] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON Silent,Silent,Missense_R116I,Missense_R116I indel.3584 1 54387415 [I/D] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON rs12067895 1 54389471 [A/C] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 Silent,Silent,Silent,Silent exm60923 1 54389583 [T/G] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON Silent,Silent,Missense_E104D,Missense_E104D chr1_54389596 1 54389596 [A/G] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON Silent,Silent,Missense_L100P,Missense_L100P rs189335101 1 54392238 [T/C] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 Silent,Silent,Silent,Silent rs74645762 1 54393123 [G/C] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 Silent,Silent,Silent,Silent 1:54394086-GA 1 54394086 [A/G] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON Silent,Silent,Missense_T78M,Missense_T78M 1:54395692-TA 1 54395692 [A/T] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 Silent,Silent,Silent,Silent 1:54395706-GT 1 54395706 [T/G] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 Silent,Silent,Silent,Silent JHU_1.54396832 1 54396833 [A/G] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 Silent,Silent,Silent,Silent rs79758599 1 54398218 [A/G] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 Silent,Silent,Silent,Silent rs117474496 1 54399589 [T/C] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 Silent,Silent,Silent,Silent JHU_1.54402269 1 54402270 [C/G] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 Silent,Silent,Silent,Silent rs149221766 1 54404486 [A/G] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 Silent,Silent,Silent,Silent exm60933 1 54405716 [T/C] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON Silent,Silent,Missense_E14K,Missense_E14K exm60936 1 54405745 [A/G] NR_133632,NR_133633,NM_001316935,NM_016126 HSPB11,HSPB11,HSPB11,HSPB11 EXON Silent,Silent,Missense_I4T,Missense_I4T rs1546883 1 54416201 [G/C] NM_001256409,NM_052940 LRRC42,LRRC42 Silent,Silent 1:54417755-AG 1 54417755 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_N28S,Missense_N28S exm60944 1 54417796 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_R42G,Missense_R42G variant.3586 1 54417904 [T/C] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Nonsense_R78X,Nonsense_R78X variant.3588 1 54418146 [T/G] NM_001256409,NM_052940 LRRC42,LRRC42 Silent,Silent exm60957 1 54418146 [T/G] NM_001256409,NM_052940 LRRC42,LRRC42 Silent,Silent rs76116346 1 54419015 [T/C] NM_001256409,NM_052940 LRRC42,LRRC42 Silent,Silent rs72662400 1 54422004 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 Silent,Silent exm60961 1 54423874 [A/T] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_T176S,Missense_T176S exm60965 1 54426146 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Synonymous_S241S,Synonymous_S241S indel.3590 1 54427743 [D/I] NM_001256409,NM_052940 LRRC42,LRRC42 EXON indel.3591 1 54427757 [I/D] NM_001256409,NM_052940 LRRC42,LRRC42 EXON JHU_1.54428454 1 54428455 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 Silent,Silent exm2252160 1 54432019 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Synonymous_E326E,Synonymous_E326E 1:54432047-CT 1 54432047 [T/C] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_R336C,Missense_R336C exm60984 1 54433345 [T/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_K340N,Missense_K340N exm60986 1 54433350 [T/C] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_S342F,Missense_S342F exm60987 1 54433353 [T/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_R343L,Missense_R343L indel.3593 1 54433404 [D/I] NM_001256409,NM_052940 LRRC42,LRRC42 EXON 1KG_1_54433433 1 54433433 [D/I] NM_001256409,NM_052940 LRRC42,LRRC42 EXON exm60990 1 54433454 [G/C] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_V377L,Missense_V377L exm60993 1 54433466 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_E381K,Missense_E381K exm60994 1 54433490 [A/G] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Missense_K389E,Missense_K389E exm2252161 1 54433567 [T/C] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Synonymous_Y414Y,Synonymous_Y414Y exm60998 1 54433567 [T/C] NM_001256409,NM_052940 LRRC42,LRRC42 EXON Synonymous_Y414Y,Synonymous_Y414Y JHU_1.54436216 1 54436217 [T/G] exm2265010_ilmndup1 1 54439366 [A/G] exm2265010 1 54439366 [A/G] rs12144251 1 54440345 [A/C] rs3765404 1 54441275 [T/C] rs74084502 1 54441973 [A/T] rs141841937 1 54446117 [A/G] rs651381 1 54450998 [A/G] rs145469328 1 54451099 [T/C] JHU_1.54452245 1 54452246 [A/G] rs12565053 1 54452817 [T/C] JHU_1.54457023 1 54457024 [T/C] rs620907 1 54468166 [T/G] JHU_1.54471513 1 54471514 [T/C] rs78782939 1 54471517 [A/G] exm61007 1 54474738 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_D90N,Missense_D136N,Missense_D140N,Missense_D179N,Silent chr1_54474758 1 54474758 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_S83L,Missense_S129L,Missense_S133L,Missense_S172L,Silent exm61009 1 54474768 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_R80C,Missense_R126C,Missense_R130C,Missense_R169C,Silent rs77057749 1 54475813 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61013 1 54475954 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61014 1 54475967 [A/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Nonsense_E64X,Nonsense_E110X,Nonsense_E114X,Nonsense_E153X,Missense_M99I 1:54475992-AG 1 54475992 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Synonymous_T55T,Synonymous_T101T,Synonymous_T105T,Synonymous_T144T,Missense_L91P exm2275451 1 54476060 [C/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_H33D,Missense_H79D,Missense_H83D,Missense_H122D,Synonymous_P68P exm61019 1 54476084 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61021 1 54477834 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Missense_E65K,Missense_E69K,Missense_E108K,Synonymous_T54T exm61025 1 54477873 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Missense_V52I,Missense_V56I,Missense_V95I,Synonymous_G41G 1:54477890-CA 1 54477890 [A/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Missense_C46F,Missense_C50F,Missense_C89F,Missense_A36S 1:54477906-GT 1 54477906 [T/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Missense_H41N,Missense_H45N,Missense_H84N,Synonymous_A30A rs150053756 1 54479061 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent JHU_1.54479490 1 54479491 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent 1:54479909-CA 1 54479909 [A/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Silent,Silent,Nonsense_G68X,Silent 1:54479911-GA 1 54479911 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Silent,Silent,Missense_P67L,Silent 1:54479959-GA 1 54479959 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Silent,Silent,Missense_A51V,Silent rs11804837 1 54482915 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61034 1 54483090 [A/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_G11V,Missense_G11V,Silent,Missense_G11V,Missense_G11V JHU_1.54483416 1 54483417 [T/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent JHU_1.54483535 1 54483536 [A/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent 1:54483806-CT 1 54483806 [T/C] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Silent,Missense_R15Q,Silent,Silent 1:54483833-GT 1 54483833 [T/G] NM_001276394,NM_001276393,NM_001276392,NM_001010978,NM_001276395 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Silent,Missense_A6D,Silent,Silent rs115846926 1 54485615 [C/G] rs6681465 1 54486829 [T/C] 1:54492569-T-C 1 54492569 [T/C] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Silent,Silent,Silent,Silent,Silent,Silent rs1547467 1 54497040 [T/C] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Silent,Silent,Silent,Silent,Silent,Silent 1:54497962-CT 1 54497962 [T/C] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Missense_G148D,Missense_G278D,Missense_G212D,Missense_G279D,Missense_G147D,Missense_G147D rs3766466 1 54505437 [A/C] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.54505755 1 54505756 [A/G] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 Silent,Silent,Silent,Silent,Silent,Silent exm61051 1 54506486 [A/G] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Missense_A87V,Missense_A217V,Missense_A151V,Missense_A218V,Missense_A86V,Missense_A86V exm61055 1 54507479 [T/C] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 Silent,Silent,Silent,Silent,Silent,Silent 1:54509075-C-CT 1 54509075 [I/D] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON 1:54511321-GTGC-G 1 54511321 [I/D] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051,NM_001305066 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON variant.3599 1 54511361 [A/G] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051,NM_001305066 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_R132X exm61071 1 54511457 [A/C] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051,NM_001305066 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Silent,Missense_C100G,Silent,Missense_C100G,Silent,Silent,Missense_C100G JHU_1.54513969 1 54513970 [A/G] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051,NM_001305066 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 Silent,Silent,Silent,Silent,Silent,Silent,Silent Variant12394 1 54514342 [I/D] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051,NM_001305066 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 exm61080 1 54518678 [A/G] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051,NM_001305066 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Silent,Missense_P62S,Missense_P62S,Missense_P62S,Silent,Silent,Missense_P62S exm61082 1 54518725 [A/G] NM_001305049,NM_004872,NM_001305050,NM_001305043,NM_001305052,NM_001305051,NM_001305066 TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59,TMEM59 EXON Silent,Missense_A46V,Missense_A46V,Missense_A46V,Silent,Silent,Missense_A46V exm61098 1 54520184 [T/C] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_I30T,Silent rs3820112 1 54522307 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent rs12126324 1 54527647 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent 1:54534466-CA 1 54534466 [A/C] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_T47N,Silent exm61101 1 54534492 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_K56E,Silent variant.3602 1 54534572 [T/C] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent rs10489447 1 54542362 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent rs77964756 1 54542730 [T/C] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent JHU_1.54544921 1 54544922 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent rs7556423 1 54546449 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent JHU_1.54548858 1 54548859 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent exm61104 1 54554268 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent newrs139735908 1 54554268 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent exm1832305 1 54554291 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_R89H,Silent 1:54554318-CT 1 54554318 [T/C] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_S98F,Silent 1:54554351-CA 1 54554351 [A/C] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_T109N,Silent JHU_1.54559793 1 54559794 [T/C] NM_153035,NR_130900 TCEANC2,TCEANC2 Silent,Silent indel.3604 1 54562008 [I/D] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON exm61116 1 54562010 [C/G] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_S164C,Silent exm1832348 1 54562033 [T/C] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_R172W,Silent chr1_54562075 1 54562075 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Missense_A186T,Silent rs7524477 1 54562444 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Silent,Silent rs7538004 1 54563522 [A/G] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Silent,Silent JHU_1.54566270 1 54566271 [T/G] NM_153035,NR_130900 TCEANC2,TCEANC2 EXON Silent,Silent rs140993703 1 54568901 [T/C] NR_130900 TCEANC2 Silent 1:54570223-CT 1 54570223 [T/C] NR_130900 TCEANC2 Silent 1:54570229-CT 1 54570229 [T/C] NR_130900 TCEANC2 Silent chr1_54570283 1 54570283 [T/C] NR_130900 TCEANC2 Silent rs4927055 1 54575746 [T/C] NR_130900 TCEANC2 Silent rs147125709 1 54576316 [A/C] NR_130900 TCEANC2 Silent rs74631198 1 54579848 [A/G] rs57678902 1 54583770 [T/C] 1:54584045-A-G 1 54584045 [A/G] JHU_1.54584402 1 54584403 [T/C] rs12063422 1 54585415 [T/C] JHU_1.54585460 1 54585461 [G/C] JHU_1.54585661 1 54585662 [T/G] rs17391213 1 54586649 [A/G] rs7516442 1 54588110 [T/C] rs7516735 1 54588398 [A/C] rs12095916 1 54588636 [A/G] rs35948412 1 54590677 [C/G] rs612368 1 54591322 [A/G] rs117316770 1 54591924 [T/G] rs608395 1 54592897 [A/C] JHU_1.54596465 1 54596466 [A/G] rs116879779 1 54597694 [A/G] rs143560405 1 54598419 [T/C] NM_001353655 CDCP2 EXON Silent rs4927057 1 54601021 [A/G] NM_001353655 CDCP2 Silent rs2026110 1 54601232 [A/G] NM_001353655 CDCP2 Silent JHU_1.54602895 1 54602896 [A/G] NM_001353655 CDCP2 Silent JHU_1.54605106 1 54605107 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Silent exm61129 1 54605242 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_T434M exm61131 1 54605251 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_L431P exm61139 1 54605311 [A/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_G411V 1:54605317-AG 1 54605317 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_M409T Variant72 1 54605321 [I/D] NM_001353655,NM_201546 CDCP2,CDCP2 EXON exm61150 1 54605326 [G/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_A406G exm61158 1 54605336 [C/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Silent,Missense_V403L exm61166 1 54605429 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_G372R,Missense_G372R exm61167 1 54605432 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_I371V,Missense_I371V exm61169 1 54605456 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_R363C,Missense_R363C exm61172 1 54605528 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_H339Y,Missense_H339Y exm61173 1 54605557 [T/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_A329E,Missense_A329E exm61175 1 54605576 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_D323N,Missense_D323N 1:54605614-AG 1 54605614 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_L310P,Missense_L310P exm61180 1 54605666 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_Y293H,Missense_Y293H exm61183 1 54605698 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_R282H,Missense_R282H JHU_1.54606221 1 54606222 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent rs12078646 1 54606522 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent exm61190 1 54606804 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_G244R,Missense_G244R rs3766465 1 54606804 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_G244R,Missense_G244R 1:54606807-TC 1 54606807 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_I243V,Missense_I243V 1:54606855-CT 1 54606855 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_V227M,Missense_V227M exm1832490 1 54606878 [A/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_G219V,Missense_G219V exm61194 1 54606896 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_R213H,Missense_R213H 1:54606927-CT 1 54606927 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_V203M,Missense_V203M exm61198 1 54606996 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_P180S,Missense_P180S rs4927061 1 54607546 [A/T] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent rs1571541 1 54608352 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent JHU_1.54608398 1 54608399 [A/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent JHU_1.54609113 1 54609114 [A/T] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent exm61207 1 54610150 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_G139D,Missense_G139D exm61208 1 54610154 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_A138T,Missense_A138T 1:54610192-AG 1 54610192 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_F125S,Missense_F125S 1:54610331-AG 1 54610331 [A/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_Y79H,Missense_Y79H Variant12396 1 54610404 [D/I] NM_001353655,NM_201546 CDCP2,CDCP2 EXON rs6704344 1 54612220 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent rs4927065 1 54615232 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent rs6699826 1 54615558 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent rs1999175 1 54616753 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent JHU_1.54617503 1 54617504 [T/C] NM_001353655,NM_201546 CDCP2,CDCP2 Silent,Silent 1:54618568-GT 1 54618568 [T/G] NM_001353655,NM_201546 CDCP2,CDCP2 EXON Missense_L10M,Missense_L10M rs12096978 1 54619106 [T/C] rs7519887 1 54619404 [T/C] rs75709109 1 54621887 [T/C] rs660514 1 54625292 [A/G] rs12408462 1 54626640 [A/G] rs12143492 1 54633259 [T/C] rs143528227 1 54634825 [T/A] rs7552121 1 54636689 [A/G] rs11800926 1 54639004 [T/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Silent,Silent,Silent exm61236 1 54640318 [T/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_T229A,Missense_T160A,Missense_T308A rs61741270 1 54640328 [A/G] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Synonymous_C225C,Synonymous_C156C,Synonymous_C304C 1:54640438-GT 1 54640438 [T/G] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_L189M,Missense_L120M,Missense_L268M rs77300082 1 54643655 [T/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent JHU_1.54643973 1 54643974 [G/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent indel.3615 1 54644834 [I/D] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON exm61248 1 54644859 [T/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_R157H,Missense_R88H,Missense_R236H exm61251 1 54644923 [T/G] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_L136M,Missense_L67M,Missense_L215M 1:54644970-AC 1 54644970 [A/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_I120S,Missense_I51S,Missense_I199S exm61257 1 54644994 [A/G] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_T112M,Missense_T43M,Missense_T191M JHU_1.54647164 1 54647165 [C/G] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent 1:54649847-TC 1 54649847 [T/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_Y97C,Missense_Y28C,Missense_Y176C 1:54649875-AG 1 54649875 [A/G] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_W88R,Missense_W19R,Missense_W167R exm61258 1 54649890 [T/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_G83R,Missense_G14R,Missense_G162R exm61259 1 54649913 [T/C] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL EXON Missense_R75Q,Missense_R6Q,Missense_R154Q variant.3617 1 54649975 [T/G] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent JHU_1.54650818 1 54650819 [A/T] NM_001353353,NM_001353354,NM_001031672 CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent variant.3618 1 54653320 [T/C] NM_001353353,NM_001353354,NM_001031672,NR_148414 CYB5RL,CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent,Silent rs10888837 1 54655895 [A/G] NM_001353353,NM_001353354,NM_001031672,NR_148414 CYB5RL,CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent,Silent 1:54656412-TC 1 54656412 [T/C] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Silent,Silent,Silent,Silent,Missense_Q119R exm61267 1 54656446 [A/G] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Silent,Silent,Missense_R108W,Silent,Missense_R108W exm61268 1 54656470 [A/G] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Silent,Silent,Missense_P100S,Silent,Missense_P100S JHU_1.54656862 1 54656863 [T/C] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent,Silent,Silent JHU_1.54657318 1 54657319 [A/C] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent,Silent,Silent rs56353083 1 54657551 [A/G] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL Silent,Silent,Silent,Silent,Silent rs946448 1 54661150 [T/C] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Missense_R47K,Silent,Missense_R47K,Silent,Missense_R47K exm61275 1 54661163 [A/G] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Nonsense_R43X,Silent,Nonsense_R43X,Silent,Nonsense_R43X 1:54661177-AG 1 54661177 [A/G] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Missense_F38S,Silent,Missense_F38S,Silent,Missense_F38S exm61280 1 54661234 [T/C] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Missense_R19Q,Silent,Missense_R19Q,Silent,Missense_R19Q exm61283 1 54661262 [T/C] NM_001353353,NM_001353354,NM_001031672,NR_148414,NM_001353356 CYB5RL,CYB5RL,CYB5RL,CYB5RL,CYB5RL EXON Missense_D10N,Silent,Missense_D10N,Silent,Missense_D10N exm61298 1 54666074 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_P53L,Missense_P53L exm61302 1 54666100 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_G62R,Missense_G62R exm61308 1 54670724 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_K127R,Missense_K127R exm61311 1 54670744 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_E134K,Missense_E134K exm61312 1 54670784 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_I147T,Missense_I147T 1:54670786-GA 1 54670786 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_E148K,Missense_E148K exm61319 1 54670828 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_R162C,Missense_R162C variant.3621 1 54671080 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Nonsense_R215X,Nonsense_R215X JHU_1.54671207 1 54671208 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 Silent,Silent rs35465247 1 54675001 [G/C] NM_016491,NM_001330602 MRPL37,MRPL37 Silent,Silent indel.3622 1 54675621 [D/I] NM_016491,NM_001330602 MRPL37,MRPL37 EXON exm61332 1 54678184 [A/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_E281D,Missense_E281D 1:54678258-CT 1 54678258 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_P306L,Missense_P306L exm61340 1 54678305 [G/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_L322V,Missense_L322V exm61341 1 54678317 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_R326W,Missense_R326W exm61342 1 54678318 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_R326Q,Missense_R326Q rs4927071 1 54679912 [T/C] NM_016491,NM_001330602 MRPL37,MRPL37 Silent,Silent 1:54681824-AG 1 54681824 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_K334R,Missense_K334R exm1832550 1 54681841 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_V340M,Missense_V340M exm61351 1 54681920 [G/C] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Missense_C366S,Missense_C366S var_1_54681948 1 54681948 [A/G] NM_016491,NM_001330602 MRPL37,MRPL37 EXON Nonsense_W375X,Nonsense_W375X rs34609199 1 54685252 [A/G] NM_001330602 MRPL37 Silent JHU_1.54685818 1 54685819 [T/C] NM_001330602 MRPL37 Silent JHU_1.54686013 1 54686014 [T/C] NM_001330602 MRPL37 Silent JHU_1.54686043 1 54686044 [T/C] NM_001330602 MRPL37 Silent JHU_1.54686176 1 54686177 [G/C] NM_001330602 MRPL37 Silent rs4926624 1 54687307 [A/C] NM_001330602 MRPL37 Silent rs642990 1 54688516 [T/C] NM_001330602 MRPL37 Silent JHU_1.54689401 1 54689402 [T/C] NM_001330602 MRPL37 Silent rs10888843 1 54689461 [T/C] NM_001330602 MRPL37 Silent JHU_1.54689981 1 54689982 [A/G] NM_001330602 MRPL37 Silent rs56802641 1 54690867 [A/G] NM_001330602 MRPL37 EXON Missense_G422S JHU_1.54692052 1 54692053 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Silent,Silent,Silent 1:54694148-AC 1 54694148 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_S317A,Missense_S310A,Missense_S337A rs61776465 1 54694750 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs76587831 1 54696024 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs4061073 1 54696743 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs686930 1 54700707 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54702714 1 54702715 [T/A] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent JHU_1.54703196 1 54703197 [A/C] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent rs946443 1 54703702 [A/C] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent 1:54703768-GA 1 54703768 [A/G] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent 1:54703795-TC 1 54703795 [T/C] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent 1:54703869-CT 1 54703869 [T/C] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent 1:54703899-CT 1 54703899 [T/C] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent 1:54703918-GA 1 54703918 [A/G] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent 1:54703953-AG 1 54703953 [A/G] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent JHU_1.54703952 1 54703953 [A/G] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent JHU_1.54704150 1 54704151 [T/C] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent JHU_1.54704509 1 54704510 [A/C] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent JHU_1.54704562 1 54704563 [A/G] NM_018070,NM_001009955,NM_145716,NR_103541 SSBP3,SSBP3,SSBP3,SSBP3-AS1 EXON Silent,Silent,Silent,Silent JHU_1.54705719 1 54705720 [T/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent exm61421 1 54707182 [T/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_I236L,Missense_I229L,Missense_I256L rs79864434 1 54708197 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent exm61428 1 54708960 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_G202S,Missense_G195S,Missense_G222S 1:54708966-CT 1 54708966 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_G200S,Missense_G193S,Missense_G220S JHU_1.54710947 1 54710948 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54713242 1 54713243 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs751360 1 54713705 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54713925 1 54713926 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent 1:54714821-G-A 1 54714821 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs608386 1 54716823 [T/A] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs191260519 1 54717380 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54718303 1 54718304 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs687050 1 54718770 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent exm2252171 1 54718770 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54719199 1 54719200 [C/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs75314556 1 54719757 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent exm61436 1 54722838 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Silent,Missense_A130T,Missense_A157T JHU_1.54723657 1 54723658 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs3766442 1 54724246 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54724388 1 54724389 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54726432 1 54726433 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs79521497 1 54727384 [A/T] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs77639887 1 54728497 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs79179757 1 54729558 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54729665 1 54729666 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs3766431 1 54730036 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs3766427 1 54734253 [C/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54735222 1 54735223 [T/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54735966 1 54735967 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs112965446 1 54739391 [C/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs603901 1 54741767 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs590041 1 54742471 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs3753407 1 54745528 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs10788976 1 54746000 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54746413 1 54746414 [T/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs80124155 1 54748197 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs10788977 1 54751900 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs11206317 1 54751977 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs1361312 1 54753407 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs608547 1 54753840 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54754256 1 54754257 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54754260 1 54754261 [T/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54754717 1 54754718 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54756491 1 54756492 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54757400 1 54757401 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54758200 1 54758201 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54758300 1 54758301 [C/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs12040312 1 54758639 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs4927083 1 54760032 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs4927084 1 54760066 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs17110286 1 54761041 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs6678619 1 54762350 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs75869723 1 54762408 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54765004 1 54765005 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs7531781 1 54765060 [T/A] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54765986 1 54765987 [G/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs79477264 1 54767763 [T/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs6694281 1 54769520 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs35527464 1 54769868 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54770176 1 54770177 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54770866 1 54770867 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs71637838 1 54776563 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs72665934 1 54776596 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs17110345 1 54777207 [T/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs149020278 1 54780032 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs12021758 1 54787049 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs71637840 1 54789621 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs17110383 1 54790499 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs4927092 1 54794819 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54796091 1 54796092 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs114688134 1 54796519 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs6684761 1 54797539 [T/A] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs113726809 1 54799107 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs79481013 1 54803865 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs7545747 1 54804157 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54805252 1 54805253 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs77692229 1 54807367 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54808596 1 54808597 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54808756 1 54808757 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54808854 1 54808855 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs115536023 1 54814185 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54814184 1 54814185 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs58330544 1 54815493 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs2076571 1 54818099 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs4601533 1 54819977 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54820122 1 54820123 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs12145680 1 54820360 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs7552342 1 54821429 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs7532677 1 54822648 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs7531029 1 54824420 [T/A] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54824784 1 54824785 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs10489565 1 54826187 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs12082870 1 54829824 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs12063509 1 54830556 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54835168 1 54835169 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs80194843 1 54835381 [G/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs12024740 1 54836906 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs78449805 1 54842464 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54850668 1 54850669 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs12737468 1 54851517 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs6690450 1 54854079 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs72665961 1 54855588 [T/A] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs139601321 1 54859389 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54859899 1 54859900 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54861892 1 54861893 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent JHU_1.54863066 1 54863067 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs79641881 1 54865861 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs213496 1 54869816 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent 1:54871657-CA 1 54871657 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_A9S,Missense_A9S,Missense_A9S 1:54871669-CA 1 54871669 [A/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_G5C,Missense_G5C,Missense_G5C 1:54871674-GA 1 54871674 [A/G] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_A3V,Missense_A3V,Missense_A3V 1:54871675-CT 1 54871675 [T/C] NM_018070,NM_001009955,NM_145716 SSBP3,SSBP3,SSBP3 EXON Missense_A3T,Missense_A3T,Missense_A3T JHU_1.54872544 1 54872545 [T/C] rs76773399 1 54876408 [A/G] JHU_1.54877580 1 54877581 [A/G] rs12073902 1 54879140 [T/C] JHU_1.54880431 1 54880432 [A/G] rs77025037 1 54881105 [T/C] rs12142711 1 54882806 [G/C] rs4927101 1 54883003 [A/G] rs4927104 1 54887297 [A/G] rs74073632 1 54888165 [C/G] rs74538243 1 54889233 [A/G] rs1883783 1 54890956 [T/G] rs11206349 1 54892741 [A/G] rs4927113 1 54902861 [T/C] rs11206355 1 54905582 [T/C] rs111761534 1 54906662 [T/C] exm-rs1543369 1 54907935 [T/G] rs1543369 1 54907935 [T/G] rs12758577 1 54908153 [A/C] JHU_1.54917242 1 54917243 [A/C] rs4927123 1 54922003 [A/G] rs74073682 1 54925568 [T/G] JHU_1.54926379 1 54926380 [C/G] rs189936763 1 54927615 [T/G] JHU_1.54930076 1 54930077 [A/G] JHU_1.54930099 1 54930100 [A/G] rs213474 1 54930915 [C/G] rs78689429 1 54939425 [T/C] rs11206367 1 54940165 [T/C] rs71637853 1 54943692 [A/G] rs6656290 1 54943752 [T/C] rs299861 1 54946142 [A/G] rs190963 1 54946847 [A/G] JHU_1.54946865 1 54946866 [A/C] rs61774928 1 54947622 [T/C] JHU_1.54952405 1 54952406 [A/C] rs4927133 1 54953523 [T/C] JHU_1.54955002 1 54955003 [A/C] rs75407408 1 54958670 [T/G] JHU_1.54959143 1 54959144 [A/G] JHU_1.54960164 1 54960165 [A/G] JHU_1.54960172 1 54960173 [T/C] JHU_1.54960496 1 54960497 [A/C] rs477198 1 54960696 [T/C] rs59733912 1 54960832 [T/C] rs12022459 1 54962393 [T/C] rs299895 1 54962448 [T/C] rs72899641 1 54964191 [A/G] rs1888182 1 54967890 [T/C] JHU_1.54972027 1 54972028 [A/G] JHU_1.54972130 1 54972131 [T/G] JHU_1.54973216 1 54973217 [A/G] rs79561040 1 54977013 [T/C] rs7512248 1 54978948 [T/C] JHU_1.54982704 1 54982705 [T/C] rs116623889 1 54983337 [A/C] rs59382093 1 54983712 [T/C] rs4927135 1 54983931 [T/C] rs4927134 1 54984107 [A/C] rs56305514 1 54985600 [T/C] rs1105690 1 54986334 [T/C] JHU_1.54988697 1 54988698 [T/C] JHU_1.54989723 1 54989724 [A/G] rs12752888 1 54992939 [T/C] rs1024059 1 54994717 [T/C] rs77627088 1 54996884 [A/G] rs299864 1 55004406 [T/C] rs55831989 1 55004978 [A/G] rs72668248 1 55007673 [A/G] rs11206383 1 55009952 [T/C] rs11803116 1 55010178 [A/G] rs61659364 1 55010364 [A/T] rs17110651 1 55011589 [T/C] rs7515747 1 55012825 [A/G] JHU_1.55012880 1 55012881 [T/C] exm61537 1 55014013 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R11W,Missense_R11W JHU_1.55014821 1 55014822 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55015064 1 55015065 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55015122 1 55015123 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55015375 1 55015376 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55015484 1 55015485 [T/A] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55016831 1 55016832 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs72901621 1 55017736 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55023076 1 55023077 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs72901633 1 55024966 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs449484 1 55030530 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs75641291 1 55030615 [T/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs405731 1 55033582 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs300280 1 55033869 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs300277 1 55035395 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs114657818 1 55038485 [T/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs17110698 1 55040551 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs681057 1 55041038 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55043532 1 55043533 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs1755588 1 55044940 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs114834713 1 55046133 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs300269 1 55046392 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55046649 1 55046650 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs17110757 1 55049806 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55049965 1 55049966 [G/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent exm61541 1 55050353 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R20H,Missense_R20H exm2233608 1 55050361 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R23W,Missense_R23W exm61543 1 55050376 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R28C,Missense_R28C exm61544 1 55050380 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_A29V,Missense_A29V 1:55050430-GA 1 55050430 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_E46K,Missense_E46K JHU_1.55051771 1 55051772 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55052424 1 55052425 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55055010 1 55055011 [T/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent JHU_1.55055773 1 55055774 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent rs1172779 1 55059295 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent 1:55059704-AG 1 55059704 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_I155V,Missense_I155V 1:55060251-CT 1 55060251 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_P165L,Missense_P165L exm61575 1 55060288 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Synonymous_A177A,Synonymous_A177A exm2252187 1 55060288 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Synonymous_A177A,Synonymous_A177A 1:55060299-GA 1 55060299 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R181Q,Missense_R181Q chr1_55060328 1 55060328 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_I191V,Missense_I191V exm61579 1 55060362 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_G202D,Missense_G202D exm61584 1 55062960 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_M212I,Missense_M212I exm61585 1 55062965 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_P214L,Missense_P214L 1:55063084-GA 1 55063084 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_A254T,Missense_A254T exm61593 1 55064980 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R259H,Missense_R259H 1:55065001-CT 1 55065001 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_A266V,Missense_A266V exm1833415 1 55065022 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R273Q,Missense_R273Q exm1833416 1 55065042 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_D280N,Missense_D280N 1:55065066-GT 1 55065066 [T/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_V288L,Missense_V288L 1:55066977-CAGG-C 1 55066977 [I/D] NM_147161,NM_015547 ACOT11,ACOT11 EXON 1:55066994-CT 1 55066994 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R313W,Missense_R313W exm61611 1 55067086 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Synonymous_G343G,Synonymous_G343G exm61614 1 55068351 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R347W,Missense_R347W exm61615 1 55068354 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R348W,Missense_R348W 1:55068360-CT 1 55068360 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Nonsense_R350X,Nonsense_R350X 1:55068373-CT 1 55068373 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_A354V,Missense_A354V 1:55069551-AG 1 55069551 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_I365V,Missense_I365V exm1833431 1 55070053 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_K396T,Missense_K396T exm61628 1 55070752 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R414C,Missense_R414C 1:55070753-GA 1 55070753 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R414H,Missense_R414H 1:55070810-AG 1 55070810 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_H433R,Missense_H433R exm61632 1 55072826 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Nonsense_Q464X,Nonsense_Q464X exm61635 1 55072856 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_V474I,Missense_V474I exm61636 1 55072871 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_L479F,Missense_L479F exm61640 1 55072911 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_A492V,Missense_A492V rs12027962 1 55073396 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 Silent,Silent exm61649 1 55073660 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_H516Q,Missense_H516Q 1:55073662-CG-C 1 55073662 [D/I] NM_147161,NM_015547 ACOT11,ACOT11 EXON exm61660 1 55074645 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Nonsense_Q549X,Silent 1:55074667-AG 1 55074667 [A/G] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_N556S,Silent exm1833449 1 55074683 [A/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_N561K,Silent 1:55074750-CT 1 55074750 [T/C] NM_147161,NM_015547 ACOT11,ACOT11 EXON Missense_R584W,Silent 1:55074967-AC 1 55074967 [A/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_L578V exm61670 1 55074978 [T/A] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_Y574F exm61672 1 55075005 [T/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_R565Q exm61673 1 55075006 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Nonsense_R565X Variant37951 1 55075061 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Synonymous_G546G exm61682 1 55075099 [G/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_R534G 1:55075158-GA 1 55075158 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_A514V exm61686 1 55075209 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_M497T 1:55075333-CT 1 55075333 [T/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_G456S chr1_55075352 1 55075352 [T/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_H449Q exm61696 1 55075386 [T/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_H438P 1:55075402-TC 1 55075402 [T/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_S433G 1:55075435-GA 1 55075435 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_R422W exm61700 1 55075444 [T/C] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_A419T exm61703 1 55075452 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_A416V exm61706 1 55075516 [C/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_L395V exm1833464 1 55075518 [A/G] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_T394M 1:55075552-G-GC 1 55075552 [D/I] NM_147161,NM_015547,NM_176782 ACOT11,ACOT11,FAM151A EXON exm61721 1 55076142 [C/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_E343Q exm61723 1 55076145 [G/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_V342L exm61724 1 55076154 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_G339S exm61730 1 55076166 [G/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_P335A rs733035 1 55076430 [A/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent exm61736 1 55077278 [T/C] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent variant.3652 1 55077288 [A/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Nonsense_Q311X exm61738 1 55077354 [A/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_R289W exm1833481 1 55077377 [A/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_S281L 1:55077401-CT 1 55077401 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Nonsense_W273X rs1655528 1 55078046 [T/C] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent 1:55078236-CA 1 55078236 [A/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_R241S exm61750 1 55078262 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_E233K 1:55078272-TCTC-T 1 55078272 [D/I] NM_015547,NM_176782 ACOT11,FAM151A EXON exm61753 1 55078310 [T/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_T217P variant.3654 1 55080371 [A/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent 1:55080374-G-GT 1 55080374 [I/D] NM_015547,NM_176782 ACOT11,FAM151A EXON 1:55080428-CT 1 55080428 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_A174T exm61762 1 55080475 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_R158Q JHU_1.55080634 1 55080635 [A/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent rs77314204 1 55080767 [T/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent JHU_1.55080843 1 55080844 [G/C] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent JHU_1.55080982 1 55080983 [T/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent 1:55081717-CT 1 55081717 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_A131T 1:55081756-T-TG 1 55081756 [D/I] NM_015547,NM_176782 ACOT11,FAM151A EXON exm61769 1 55081762 [T/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_P116T exm61776 1 55081840 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_I90V rs116556038 1 55084979 [A/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent rs11206396 1 55085499 [T/C] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent exm61779 1 55085537 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_S88G exm61788 1 55085608 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_R64Q rs145059641 1 55088432 [A/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent JHU_1.55088569 1 55088570 [A/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent 1:55088959-CT 1 55088959 [T/C] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Missense_R37Q rs2117263 1 55089708 [A/C] NM_015547 ACOT11 Silent rs74724624 1 55091084 [A/G] NM_015547 ACOT11 Silent JHU_1.55091289 1 55091290 [A/T] NM_015547 ACOT11 Silent 1:55096434-GA 1 55096434 [A/G] NM_015547 ACOT11 EXON Missense_E553K JHU_1.55102888 1 55102889 [A/G] JHU_1.55103500 1 55103501 [A/G] rs10736390 1 55103945 [A/G] rs1655524 1 55106807 [T/C] JHU_1.55111767 1 55111768 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs752468 1 55117000 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76889504 1 55117812 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7533275 1 55118162 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61826 1 55118790 [C/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S64C exm61827 1 55118832 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_E78G exm1833673 1 55118861 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A88T exm61837 1 55118982 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I128T 1:55119006-CA 1 55119006 [A/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A136D variant.3661 1 55119039 [A/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_S147X exm61841 1 55119144 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_H182R rs9332417 1 55119289 [G/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L230L exm61847 1 55119410 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S271G exm61852 1 55119467 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V290M exm61854 1 55119515 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y306D rs1655519 1 55119515 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Y306D exm61855 1 55119534 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S312F rs17399810 1 55119534 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S312F exm61856 1 55119546 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_E316G 1:55119567-CT 1 55119567 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P323L exm61862 1 55119654 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T352M exm61866 1 55119693 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I365T exm61867 1 55119702 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V368A 1:55119740-GA 1 55119740 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A381T rs2570770 1 55120469 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1702000 1 55125463 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.3662 1 55130838 [A/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.3663 1 55130858 [D/I] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON 1:55130894-GT 1 55130894 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G429V rs2078273 1 55130931 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs643893 1 55132925 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61879 1 55134536 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V439F indel.3666 1 55134546 [I/D] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON exm61882 1 55134585 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_K455R JHU_1.55136066 1 55136067 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61885 1 55136188 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P470S 1:55136498-CT 1 55136498 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R17W,Silent,Silent,Silent,Silent,Missense_R499W 1:55136555-GA 1 55136555 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_V36M,Silent,Silent,Silent,Silent,Missense_V518M exm61890 1 55136559 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_Q37R,Silent,Silent,Silent,Silent,Missense_Q519R JHU_1.55137364 1 55137365 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.55137460 1 55137461 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs598130 1 55138294 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.55138556 1 55138557 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.55138913 1 55138914 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.3670 1 55139413 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Nonsense_R97X,Silent,Silent,Silent,Silent,Nonsense_R579X 1:55139414-GA 1 55139414 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R97Q,Silent,Silent,Silent,Silent,Missense_R579Q exm61907 1 55139471 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_P116L,Silent,Silent,Silent,Silent,Missense_P598L rs571199 1 55139618 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61908 1 55139691 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_M119I,Silent,Silent,Silent,Silent,Missense_M601I 1:55139705-CT 1 55139705 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_P124L,Silent,Silent,Silent,Silent,Missense_P606L exm61914 1 55139741 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_H136R,Silent,Silent,Silent,Silent,Missense_H618R chr1_55139782 1 55139782 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_D150Y,Silent,Silent,Silent,Silent,Missense_D632Y exm61919 1 55139825 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs58817396 1 55141268 [A/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61920 1 55144466 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_K181R,Silent,Silent,Silent,Silent,Missense_K663R exm61921 1 55144468 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_H182Y,Silent,Silent,Silent,Silent,Missense_H664Y exm61925 1 55144505 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_Q194R,Silent,Silent,Silent,Silent,Missense_Q676R exm61928 1 55144525 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_E201K,Silent,Silent,Silent,Silent,Missense_E683K exm61931 1 55144968 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_I212M,Silent,Silent,Silent,Silent,Missense_I694M exm61936 1 55145072 [C/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_S247T,Silent,Silent,Silent,Silent,Missense_S729T chr1_55145091 1 55145091 [C/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Nonsense_Y253X,Silent,Silent,Silent,Silent,Nonsense_Y735X exm61943 1 55145619 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R279Q,Silent,Silent,Silent,Silent,Missense_R761Q exm61944 1 55145625 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R281L,Silent,Silent,Silent,Silent,Missense_R763L 1:55145645-GA 1 55145645 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_V288I,Silent,Silent,Silent,Silent,Missense_V770I JHU_1.55145899 1 55145900 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.55146349 1 55146350 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.55147266 1 55147267 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:55148387-GA 1 55148387 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_D332N,Silent,Silent,Silent,Silent,Missense_D814N rs744748 1 55149254 [A/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs744747 1 55149369 [C/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.55151062 1 55151063 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61955 1 55151961 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_V369I,Silent,Silent,Silent,Silent,Missense_V851I exm61956 1 55151986 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R377K,Silent,Silent,Silent,Silent,Missense_R859K exm61958 1 55151994 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_Y380H,Silent,Silent,Silent,Silent,Missense_Y862H 1:55152063-GA 1 55152063 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_V403M,Silent,Silent,Silent,Silent,Missense_V885M rs78721272 1 55154673 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6588528 1 55156881 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:55158176-GA 1 55158176 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_G449S,Silent,Silent,Silent,Silent,Missense_G931S 1:55158218-GT 1 55158218 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_V463L,Silent,Silent,Silent,Silent,Missense_V945L 1:55161081-GA 1 55161081 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_C479Y,Silent,Silent,Silent,Silent,Missense_C961Y exm61974 1 55161083 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R480C,Silent,Silent,Silent,Silent,Missense_R962C exm61979 1 55161125 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_E494K,Silent,Silent,Silent,Silent,Missense_E976K exm61980 1 55161141 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_T499M,Silent,Silent,Silent,Silent,Missense_T981M rs6671173 1 55161844 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.55162303 1 55162304 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2304311 1 55163655 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:55165769-AG 1 55165769 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:55165866-GT 1 55165866 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:55165919-AG 1 55165919 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm61985 1 55166015 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R514C,Silent,Silent,Silent,Silent,Missense_R996C exm61986 1 55166016 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R514H,Silent,Silent,Silent,Silent,Missense_R996H 1:55166045-CT 1 55166045 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R524W,Silent,Silent,Silent,Silent,Missense_R1006W 1:55166066-CA 1 55166066 [A/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_H531N,Silent,Silent,Silent,Silent,Missense_H1013N exm61990 1 55166079 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_I535T,Silent,Silent,Silent,Silent,Missense_I1017T exm61993 1 55166099 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Nonsense_R542X,Silent,Silent,Silent,Silent,Nonsense_R1024X exm62003 1 55166892 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_A579V,Silent,Silent,Silent,Silent,Missense_A1061V 1:55166955-AG 1 55166955 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_Y600C,Silent,Silent,Silent,Silent,Missense_Y1082C exm62007-other 1 55166995 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Synonymous_D613D,Silent,Silent,Silent,Silent,Synonymous_D1095D Variant37959 1 55166996 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.55167772 1 55167773 [A/T] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_V617D,Silent,Silent,Silent,Silent,Missense_V1099D 1:55167779-GA 1 55167779 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R619H,Silent,Silent,Silent,Silent,Missense_R1101H exm62012 1 55167782 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_S620F,Silent,Silent,Silent,Silent,Missense_S1102F 1:55167803-GA 1 55167803 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_G627E,Silent,Silent,Silent,Silent,Missense_G1109E JHU_1.55167881 1 55167882 [T/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Synonymous_L653L,Silent,Silent,Silent,Silent,Synonymous_L1135L rs3765018 1 55168298 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Synonymous_K666K,Silent,Silent,Silent,Silent,Synonymous_K1148K exm62027 1 55168366 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R689Q,Silent,Silent,Silent,Silent,Missense_R1171Q rs1981583 1 55171439 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs146453474 1 55171819 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:55172121-GA 1 55172121 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R711Q,Silent,Silent,Silent,Silent,Missense_R1193Q exm62034 1 55172129 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_A714T,Silent,Silent,Silent,Silent,Missense_A1196T exm62040 1 55172201 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_M738V,Silent,Silent,Silent,Silent,Missense_M1220V exm62041 1 55172208 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_I740T,Silent,Silent,Silent,Silent,Missense_I1222T exm62046 1 55174748 [A/T] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Synonymous_A761A,Silent,Silent,Silent,Silent,Synonymous_A1243A exm62050 1 55175664 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_Y777C,Silent,Silent,Silent,Silent,Missense_Y1259C exm62052 1 55175679 [A/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_Q782R,Silent,Silent,Silent,Silent,Missense_Q1264R exm1833880 1 55175770 [C/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_S812R,Silent,Silent,Silent,Silent,Missense_S1294R exm62058 1 55175775 [C/G] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_S814T,Silent,Silent,Silent,Silent,Missense_S1296T exm62061 1 55175807 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_R825C,Silent,Silent,Silent,Silent,Missense_R1307C exm62063 1 55175822 [T/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Nonsense_Q830X,Silent,Silent,Silent,Silent,Nonsense_Q1312X exm1833882 1 55175825 [G/C] NR_037639,NM_001291332,NR_111931,NR_026782,NR_037641,NR_037640,NM_001039464 MROH7-TTC4,MROH7,MROH7,MROH7,MROH7-TTC4,MROH7-TTC4,MROH7 EXON Silent,Missense_A831P,Silent,Silent,Silent,Silent,Missense_A1313P rs41306631 1 55176115 [A/G] NR_037639,NR_037641,NR_037640 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4 Silent,Silent,Silent JHU_1.55176651 1 55176652 [T/G] NR_037639,NR_037641,NR_037640 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4 Silent,Silent,Silent rs4927151 1 55176652 [T/G] NR_037639,NR_037641,NR_037640 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4 Silent,Silent,Silent JHU_1.55177720 1 55177721 [A/C] NR_037639,NR_037641,NR_037640 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4 Silent,Silent,Silent rs1749859 1 55179005 [T/A] NR_037639,NR_037641,NR_037640 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4 Silent,Silent,Silent Variant12398 1 55181590 [D/I] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON exm62071 1 55182300 [A/T] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S47T,Missense_S47T 1:55182303-AG 1 55182303 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_R48G,Missense_R48G rs17110961 1 55183101 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent rs3766415 1 55183132 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent 1:55183212-AG 1 55183212 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_K93E,Missense_K93E exm62079 1 55183290 [T/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_L119F,Missense_L119F exm1833957 1 55183300 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_N122S,Missense_N122S rs1147989 1 55184209 [T/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent JHU_1.55184878 1 55184879 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent JHU_1.55185045 1 55185046 [G/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent JHU_1.55186124 1 55186125 [A/T] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent rs1180973 1 55186662 [G/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent 1:55186871-GA 1 55186871 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_A143T,Missense_A143T indel.3685 1 55186886 [D/I] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON exm62090 1 55188389 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_V171M,Missense_V171M exm62094 1 55188437 [T/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_L187F,Missense_L187F JHU_1.55193715 1 55193716 [C/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent JHU_1.55195699 1 55195700 [T/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent rs4926653 1 55196099 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent exm62104 1 55197246 [A/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S257R,Silent exm62105 1 55197247 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S257N,Silent JHU_1.55201827 1 55201828 [A/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent rs3737829 1 55203135 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent 1:55203291-CT 1 55203291 [T/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_R339W,Missense_R240W variant.3687 1 55203338 [A/G] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent JHU_1.55205084 1 55205085 [T/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 Silent,Silent,Silent,Silent,Silent exm62126 1 55207157 [T/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Missense_R379W,Missense_R280W variant.3688 1 55207181 [T/C] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON Silent,Silent,Silent,Nonsense_R387X,Nonsense_R288X var_1_55207184 1 55207184 [I/D] NR_037639,NR_037641,NR_037640,NM_004623,NM_001291333 MROH7-TTC4,MROH7-TTC4,MROH7-TTC4,TTC4,TTC4 EXON JHU_1.55209906 1 55209907 [A/C] rs10888877 1 55210960 [A/G] rs4927155 1 55211397 [A/G] rs6695931 1 55212984 [A/C] JHU_1.55213723 1 55213724 [T/C] JHU_1.55214765 1 55214766 [A/G] rs12038851 1 55216128 [T/C] rs1180967 1 55217734 [A/G] rs2873551 1 55217907 [T/C] rs2108035 1 55218155 [T/C] rs12046989 1 55219540 [T/C] JHU_1.55220437 1 55220438 [T/C] rs2527848 1 55220911 [T/G] rs2764822 1 55222080 [A/G] exm2252197 1 55223536 [T/C] NM_152268 PARS2 EXON Synonymous_V433V 1:55223721-CT 1 55223721 [T/C] NM_152268 PARS2 EXON Missense_A372T exm62146 1 55223744 [C/G] NM_152268 PARS2 EXON Missense_P364R rs35201073 1 55223744 [C/G] NM_152268 PARS2 EXON Missense_P364R 1:55223973-AG 1 55223973 [A/G] NM_152268 PARS2 EXON Missense_S288P exm62157 1 55223986 [C/G] NM_152268 PARS2 EXON Missense_E283D 1:55224021-TC 1 55224021 [T/C] NM_152268 PARS2 EXON Missense_I272V 1:55224081-CT 1 55224081 [T/C] NM_152268 PARS2 EXON Missense_G252R exm62162 1 55224131 [T/C] NM_152268 PARS2 EXON Missense_N235S newrs141760650 1 55224231 [A/G] NM_152268 PARS2 EXON Nonsense_R202X exm62167 1 55224269 [T/C] NM_152268 PARS2 EXON Missense_R189Q rs200135533 1 55224270 [A/G] NM_152268 PARS2 EXON Missense_R189W rs193204977 1 55224275 [T/C] NM_152268 PARS2 EXON Missense_K187R 1:55224541-CT 1 55224541 [T/C] NM_152268 PARS2 EXON Missense_M98I exm1834096 1 55224552 [T/C] NM_152268 PARS2 EXON Missense_V95I 1:55224650-TC 1 55224650 [T/C] NM_152268 PARS2 EXON Missense_K62R exm62184 1 55224672 [A/G] NM_152268 PARS2 EXON Missense_R55W 1:55224727-CTCT-C 1 55224727 [I/D] NM_152268 PARS2 EXON exm62189 1 55224751 [A/C] NM_152268 PARS2 EXON Missense_R28S rs11577368 1 55224751 [A/C] NM_152268 PARS2 EXON Missense_R28S exm62191 1 55224773 [A/C] NM_152268 PARS2 EXON Missense_L21R exm62193 1 55224789 [T/C] NM_152268 PARS2 EXON Missense_T16A rs114917544 1 55232388 [A/T] JHU_1.55234104 1 55234105 [T/C] rs1180939 1 55234520 [T/C] rs4439383 1 55241954 [T/C] JHU_1.55242841 1 55242842 [A/G] rs10888879 1 55243590 [T/G] JHU_1.55244196 1 55244197 [T/C] JHU_1.55245338 1 55245339 [G/C] rs56350560 1 55245639 [A/G] rs1180970 1 55246522 [T/C] 1:55246936-GA 1 55246936 [A/G] NM_001114108 TTC22 EXON Missense_R564C 1:55247394-GA 1 55247394 [A/G] NM_001114108 TTC22 EXON Missense_A411V exm62201 1 55248059 [T/G] NM_001114108 TTC22 EXON Missense_A371D exm62202 1 55248074 [A/G] NM_001114108 TTC22 EXON Missense_L366P exm62204 1 55248104 [T/C] NM_001114108 TTC22 EXON Missense_G356D exm62207 1 55248119 [T/C] NM_001114108 TTC22 EXON Missense_K351R exm2233617 1 55248120 [T/C] NM_001114108 TTC22 EXON Missense_K351E rs628667 1 55249154 [T/C] NM_001114108 TTC22 Silent 1:55250479-CT 1 55250479 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Silent,Silent exm62222 1 55251766 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_I304V,Missense_I304V variant.3692 1 55251796 [A/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Nonsense_Q294X,Nonsense_Q294X 1:55252635-CT 1 55252635 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_G285S,Missense_G285S 1:55252668-CT 1 55252668 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_G274R,Missense_G274R 1:55252713-GA 1 55252713 [A/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_R259W,Missense_R259W exm62235 1 55252738 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Nonsense_W250X,Nonsense_W250X JHU_1.55253266 1 55253267 [T/C] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent JHU_1.55253345 1 55253346 [A/G] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent exm62239 1 55253386 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_R246Q,Missense_R246Q exm62240 1 55253387 [A/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Nonsense_R246X,Nonsense_R246X exm62242 1 55253419 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_R235Q,Missense_R235Q exm62243 1 55253420 [A/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_R235W,Missense_R235W 1:55253437-CT 1 55253437 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_R229H,Missense_R229H 1:55253459-TC 1 55253459 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_K222E,Missense_K222E 1:55253501-TC 1 55253501 [T/C] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent 1:55253766-GT 1 55253766 [T/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_P191Q,Missense_P191Q JHU_1.55254104 1 55254105 [T/C] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent rs76266884 1 55254350 [A/C] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent rs75361747 1 55254653 [T/C] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent JHU_1.55255608 1 55255609 [C/G] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent JHU_1.55258718 1 55258719 [T/C] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent rs1147988 1 55259667 [A/G] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent JHU_1.55261220 1 55261221 [A/G] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent rs886738 1 55261752 [T/C] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent rs1147986 1 55263877 [A/C] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent rs72895742 1 55264632 [A/G] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent rs115964072 1 55265019 [T/C] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent rs10157621 1 55265649 [A/G] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent 1:55266270-CA 1 55266270 [A/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_Q189H,Missense_Q189H exm2233618 1 55266305 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_A178T,Missense_A178T 1:55266566-CA 1 55266566 [A/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Nonsense_E91X,Nonsense_E91X rs671108 1 55266797 [C/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_L14V,Missense_L14V rs77366620 1 55267524 [C/G] rs688938 1 55267561 [C/G] rs11206431 1 55270030 [A/G] JHU_1.55270853 1 55270854 [T/C] 1:55271811-GA 1 55271811 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_A8T,Missense_A8T 1:55271880-GT 1 55271880 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_V31L,Missense_V31L exm62293 1 55272734 [C/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_S57C,Missense_S57C exm1834432 1 55272740 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R59H,Missense_R59H exm62294 1 55272743 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_Y60C,Missense_Y60C 1:55273209-GT 1 55273209 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_G68V,Missense_G68V exm62306 1 55273355 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R117W,Missense_R117W exm62307 1 55273356 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R117Q,Missense_R117Q rs9782980 1 55273580 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_G126C,Missense_G126C exm62312 1 55273580 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_G126C,Missense_G126C 1:55273581-GA 1 55273581 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_G126D,Missense_G126D indel.3699 1 55273583 [I/D] NM_001110533,NM_152607 LEXM,LEXM EXON 1:55273616-CT 1 55273616 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R138W,Missense_R138W exm62316 1 55273635 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_T144I,Missense_T144I exm62317 1 55273652 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_S150A,Missense_S150A exm62319 1 55273670 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Nonsense_R156X,Nonsense_R156X JHU_1.55274767 1 55274768 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent JHU_1.55275557 1 55275558 [A/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs116664472 1 55277347 [A/G] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent newrs148698352 1 55277538 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Nonsense_W184X,Nonsense_W184X exm62331 1 55277599 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_Y205H,Missense_Y205H JHU_1.55277680 1 55277681 [A/G] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent 1:55277795-GA 1 55277795 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R232H,Missense_R232H exm62339 1 55277818 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_G240S,Missense_G240S 1:55277855-CT 1 55277855 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_S252F,Missense_S252F JHU_1.55279064 1 55279065 [A/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent newrs76967836 1 55279486 [A/G] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent exm62346 1 55279601 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_T293A,Missense_T293A exm62347 1 55279641 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R306L,Missense_R306L JHU_1.55279687 1 55279688 [A/G] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent exm62352 1 55280690 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_C343Y,Missense_C343Y rs17575315 1 55280791 [A/G] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent JHU_1.55281131 1 55281132 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs630895 1 55281991 [A/G] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent exm1834456 1 55282680 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R357C,Missense_R357C exm62353 1 55282719 [T/C] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R370W,Missense_R370W exm62355 1 55282731 [C/G] NM_001110533,NM_152607 LEXM,LEXM EXON Missense_R374G,Missense_R374G JHU_1.55283757 1 55283758 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs36082067 1 55284754 [A/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent JHU_1.55290396 1 55290397 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent JHU_1.55292547 1 55292548 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent JHU_1.55294333 1 55294334 [T/A] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs4926659 1 55294722 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs76203618 1 55295258 [A/G] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent JHU_1.55297798 1 55297799 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs141014 1 55299139 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs682615 1 55301220 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent JHU_1.55304167 1 55304168 [A/T] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs78290251 1 55304168 [A/T] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent rs17575462 1 55304836 [T/C] NM_001110533,NM_152607 LEXM,LEXM Silent,Silent newrs147428017 1 55307307 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Silent,Nonsense_W401X exm62364 1 55307307 [A/G] NM_001110533,NM_152607 LEXM,LEXM EXON Silent,Nonsense_W401X exm62367 1 55307332 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Silent,Missense_G410C exm62368 1 55307347 [T/G] NM_001110533,NM_152607 LEXM,LEXM EXON Silent,Missense_X415E indel.3707 1 55307524 [I/D] NM_001110533,NM_152607 LEXM,LEXM EXON rs12026851 1 55308221 [T/C] JHU_1.55310261 1 55310262 [A/G] rs687912 1 55312440 [T/C] rs7374 1 55316322 [A/G] NM_014762 DHCR24 EXON Silent rs145558556 1 55317688 [T/G] NM_014762 DHCR24 EXON Silent rs11555496 1 55317935 [T/C] NM_014762 DHCR24 EXON Missense_D508N exm62377 1 55317935 [T/C] NM_014762 DHCR24 EXON Missense_D508N seq-rs387906940 1 55318019 [T/C] NM_014762 DHCR24 EXON Missense_E480K exm62387 1 55319120 [A/G] NM_014762 DHCR24 EXON Missense_R462C 1:55319174-GA 1 55319174 [A/G] NM_014762 DHCR24 EXON Missense_R444C 1:55319195-TC 1 55319195 [T/C] NM_014762 DHCR24 EXON Missense_I437V rs718265 1 55319902 [A/G] NM_014762 DHCR24 EXON Synonymous_I342I exm-rs718265 1 55319902 [A/G] NM_014762 DHCR24 EXON Synonymous_I342I rs115413257 1 55321376 [T/C] NM_014762 DHCR24 Silent rs13374503 1 55322742 [A/C] NM_014762 DHCR24 Silent rs115721876 1 55322868 [A/G] NM_014762 DHCR24 Silent rs71637874 1 55323436 [A/C] NM_014762 DHCR24 Silent rs13373956 1 55324869 [T/G] NM_014762 DHCR24 Silent rs4927168 1 55326345 [A/C] NM_014762 DHCR24 Silent rs675320 1 55328148 [T/C] NM_014762 DHCR24 Silent rs72903506 1 55328257 [T/A] NM_014762 DHCR24 Silent 1:55331078-G-C 1 55331078 [G/C] NM_014762 DHCR24 EXON Missense_K306N rs281797256 1 55331078 [G/C] NM_014762 DHCR24 EXON Missense_K306N rs281797257 1 55331115 [T/G] NM_014762 DHCR24 EXON Missense_N294T rs642737 1 55333453 [A/G] NM_014762 DHCR24 Silent 1:54868664del52 1 55334338 [I/D] NM_014762 DHCR24 JHU_1.55335214 1 55335215 [A/G] NM_014762 DHCR24 Silent rs687146 1 55336389 [A/G] NM_014762 DHCR24 Silent rs201021800 1 55337084 [T/G] NM_014762 DHCR24 EXON Missense_Y272S exm62419 1 55337162 [T/C] NM_014762 DHCR24 EXON Missense_R246Q exm62420 1 55337163 [A/G] NM_014762 DHCR24 EXON Missense_R246W exm62421 1 55337168 [A/G] NM_014762 DHCR24 EXON Missense_P244L exm62422 1 55337173 [T/G] NM_014762 DHCR24 EXON Missense_F242L rs201280799 1 55337220 [T/C] NM_014762 DHCR24 EXON Missense_A227T 1:55337220-CT 1 55337220 [T/C] NM_014762 DHCR24 EXON Missense_A227T exm62427 1 55337283 [T/C] NM_014762 DHCR24 EXON Missense_E206K rs7551288 1 55338679 [A/G] NM_014762 DHCR24 Silent rs6686859 1 55339086 [T/C] NM_014762 DHCR24 Silent rs119475041 1 55340807 [T/C] NM_014762 DHCR24 EXON Missense_E191K rs143402560 1 55341292 [A/G] NM_014762 DHCR24 Silent rs2075391 1 55341393 [T/A] NM_014762 DHCR24 Silent exm62433 1 55341645 [T/C] NM_014762 DHCR24 EXON Missense_V155M rs138933459 1 55341645 [T/C] NM_014762 DHCR24 EXON Missense_V155M rs638944 1 55341915 [T/G] NM_014762 DHCR24 Silent JHU_1.55343114 1 55343115 [T/G] NM_014762 DHCR24 Silent rs76760215 1 55344606 [T/C] NM_014762 DHCR24 Silent JHU_1.55345545 1 55345546 [A/G] NM_014762 DHCR24 Silent rs77668549 1 55348309 [A/G] NM_014762 DHCR24 Silent seq-rs387906939 1 55349397 [T/C] NM_014762 DHCR24 EXON Missense_R94H exm62445 1 55349442 [T/C] NM_014762 DHCR24 EXON Missense_R79Q rs601902 1 55350023 [A/G] NM_014762 DHCR24 Silent Variant12400 1 55352316 [I/D] NM_014762 DHCR24 Variant77 1 55352319 [I/D] NM_014762 DHCR24 1:55352397-AC 1 55352397 [A/C] NM_014762 DHCR24 Silent rs140995590 1 55352712 [A/G] NM_014762 DHCR24 EXON Synonymous_L27L 1:55352761-GA 1 55352761 [A/G] NM_014762 DHCR24 EXON Missense_A11V 1:55352764-CA 1 55352764 [A/C] NM_014762 DHCR24 EXON Missense_C10F rs4927176 1 55354335 [T/C] JHU_1.55359164 1 55359165 [T/C] JHU_1.55362809 1 55362810 [T/C] rs658472 1 55362810 [T/C] JHU_1.55377811 1 55377812 [T/G] rs144201766 1 55377887 [A/G] rs632661 1 55385681 [T/C] JHU_1.55385726 1 55385727 [T/C] rs678358 1 55387637 [T/G] rs12145545 1 55388384 [T/C] rs35526112 1 55391268 [T/C] rs2114580 1 55394648 [A/G] JHU_1.55397250 1 55397251 [A/G] rs604778 1 55397406 [T/C] rs116652839 1 55397663 [T/C] JHU_1.55401669 1 55401670 [A/G] rs623619 1 55402743 [T/C] 1:55402920-C-T 1 55402920 [T/C] JHU_1.55405531 1 55405532 [A/G] JHU_1.55405573 1 55405574 [T/C] 1:55405663-C-A 1 55405663 [A/C] 1:55406204-A-G 1 55406204 [A/G] JHU_1.55406704 1 55406705 [T/C] rs11803041 1 55411696 [A/G] rs7549203 1 55413361 [A/C] JHU_1.55414374 1 55414375 [A/G] JHU_1.55415882 1 55415883 [T/G] 1:55416040-G-T 1 55416040 [T/G] rs12016659 1 55416775 [T/C] 1:55417676-C-T 1 55417676 [T/C] 1:55419040-T-G 1 55419040 [T/G] JHU_1.55420118 1 55420119 [A/C] rs2114574 1 55422254 [T/C] 1:55422471-T-A 1 55422471 [T/A] rs6588539 1 55424178 [A/G] 1:55426574-G-C 1 55426574 [C/G] 1:55428637-C-T 1 55428637 [T/C] 1:55431933-T-C 1 55431933 [T/C] rs7531509 1 55432798 [A/G] rs75520515 1 55433165 [T/C] rs76300202 1 55433270 [T/C] rs2317951 1 55434648 [A/G] 1:55435953-G-A 1 55435953 [A/G] 1:55437512-C-T 1 55437512 [T/C] JHU_1.55438590 1 55438591 [A/G] JHU_1.55441039 1 55441040 [T/C] JHU_1.55442957 1 55442958 [G/C] JHU_1.55447630 1 55447631 [A/G] NM_182532 TMEM61 Silent 1:55447704-G-T 1 55447704 [T/G] NM_182532 TMEM61 Silent 1:55448414-C-T 1 55448414 [T/C] NM_182532 TMEM61 Silent JHU_1.55450893 1 55450894 [A/G] NM_182532 TMEM61 Silent exm62465 1 55451770 [A/G] NM_182532 TMEM61 EXON Missense_M6V exm62470 1 55451860 [A/G] NM_182532 TMEM61 EXON Missense_A36T exm62472 1 55451872 [A/G] NM_182532 TMEM61 EXON Missense_E40K exm62474 1 55451968 [A/G] NM_182532 TMEM61 EXON Missense_V72I 1:55451977-GA 1 55451977 [A/G] NM_182532 TMEM61 EXON Missense_G75S exm62480 1 55452019 [A/G] NM_182532 TMEM61 EXON Missense_V89I exm62487 1 55452053 [A/G] NM_182532 TMEM61 EXON Missense_D100G 1:55453841-G-A 1 55453841 [A/G] NM_182532 TMEM61 Silent JHU_1.55455674 1 55455675 [T/C] NM_182532 TMEM61 Silent JHU_1.55455836 1 55455837 [C/G] NM_182532 TMEM61 Silent JHU_1.55456038 1 55456039 [A/C] NM_182532 TMEM61 Silent 1:55456039-C-A 1 55456039 [A/C] NM_182532 TMEM61 Silent JHU_1.55456441 1 55456442 [A/G] NM_182532 TMEM61 Silent JHU_1.55456452 1 55456453 [T/C] NM_182532 TMEM61 Silent 1:55457511-AC-A 1 55457511 [D/I] NM_182532 TMEM61 EXON exm62493 1 55457586 [A/C] NM_182532 TMEM61 EXON Missense_P148H exm62495 1 55457594 [T/C] NM_182532 TMEM61 EXON Missense_P151S 1:55457659-GA 1 55457659 [A/G] NM_182532 TMEM61 EXON Nonsense_W172X exm1834670 1 55457687 [G/C] NM_182532 TMEM61 EXON Missense_L182V exm62510 1 55457762 [T/C] NM_182532 TMEM61 EXON Missense_R207W rs2495513 1 55457815 [T/C] NM_182532 TMEM61 EXON Silent rs10157431 1 55458340 [C/G] rs78872535 1 55458886 [A/G] rs78606903 1 55459155 [C/G] 1:55460315-T-C 1 55460315 [T/C] 1:55461815-G-T 1 55461815 [T/G] 1:55462293-T-C 1 55462293 [T/C] exm2268890 1 55462380 [T/C] 1:55462672-G-A 1 55462672 [A/G] 1:55464061-G-T 1 55464061 [T/G] JHU_1.55464567 1 55464568 [A/G] Variant48503 1 55464869 [T/G] NM_057176 BSND EXON Nonsense_E4X Variant37969 1 55464875 [A/G] NM_057176 BSND EXON Missense_T6A 1:55464881-C-T 1 55464881 [T/C] NM_057176 BSND EXON Missense_R8W 1:55464882-G-T 1 55464882 [T/G] NM_057176 BSND EXON Missense_R8L rs74315287 1 55464887 [A/G] NM_057176 BSND EXON Missense_G10S rs141611486 1 55464922 [T/C] NM_057176 BSND EXON Synonymous_L21L exm1834698 1 55464948 [A/G] NM_057176 BSND EXON Missense_R30Q rs141403253 1 55464961 [T/C] NM_057176 BSND EXON Synonymous_Y34Y exm62529 1 55464986 [A/G] NM_057176 BSND EXON Missense_V43I rs74315289 1 55464998 [A/G] NM_057176 BSND EXON Missense_G47R 1:55464998-G-A 1 55464998 [A/G] NM_057176 BSND EXON Missense_G47R JHU_1.55465101 1 55465102 [A/G] NM_057176 BSND Silent rs759914 1 55465594 [T/G] NM_057176 BSND Silent JHU_1.55467234 1 55467235 [G/C] NM_057176 BSND Silent JHU_1.55468479 1 55468480 [A/G] NM_057176 BSND Silent JHU_1.55469451 1 55469452 [T/C] NM_057176 BSND Silent rs144505461 1 55470706 [T/C] NM_057176 BSND EXON Synonymous_V63V rs9662946 1 55471468 [T/C] NM_057176 BSND Silent rs12077294 1 55471769 [T/C] NM_057176 BSND Silent rs4927186 1 55472365 [A/G] NM_057176 BSND Silent exm62540 1 55472706 [C/G] NM_057176 BSND EXON Missense_E103D rs200246335 1 55472706 [C/G] NM_057176 BSND EXON Missense_E103D exm62546 1 55472854 [A/G] NM_057176 BSND EXON Missense_D153N exm62549 1 55472923 [T/C] NM_057176 BSND EXON Missense_R176C 1:55473973-AG 1 55473973 [A/G] NM_057176 BSND EXON Missense_N212S exm1834718 1 55473985 [A/G] NM_057176 BSND EXON Missense_H216R 1:55474039-CT 1 55474039 [T/C] NM_057176 BSND EXON Missense_P234L exm62561 1 55474053 [T/C] NM_057176 BSND EXON Nonsense_Q239X exm62566 1 55474101 [C/G] NM_057176 BSND EXON Missense_E255Q 1:55474120-TC 1 55474120 [T/C] NM_057176 BSND EXON Missense_I261T exm62568 1 55474144 [A/G] NM_057176 BSND EXON Missense_R269Q 1:55474180-CT 1 55474180 [T/C] NM_057176 BSND EXON Missense_S281L exm62573 1 55474189 [A/G] NM_057176 BSND EXON Missense_G284D exm62574 1 55474210 [A/G] NM_057176 BSND EXON Missense_E291G exm1834722 1 55474231 [A/G] NM_057176 BSND EXON Missense_G298E rs180858237 1 55474231 [A/G] NM_057176 BSND EXON Missense_G298E exm62575 1 55474255 [T/C] NM_057176 BSND EXON Missense_L306P rs201583148 1 55474261 [T/C] NM_057176 BSND EXON Missense_P308L rs6682884 1 55474325 [A/C] NM_057176 BSND EXON Silent rs4339899 1 55474476 [G/C] rs12134118 1 55474772 [T/C] rs74072615 1 55476488 [T/A] 1:55476919-C-A 1 55476919 [A/C] 1:55477186-A-G 1 55477186 [A/G] 1:55477635-G-T 1 55477635 [T/G] rs74072619 1 55477970 [T/C] rs2495509 1 55478147 [A/T] 1:55478353-C-T 1 55478353 [T/C] rs2495508 1 55478678 [T/G] JHU_1.55479966 1 55479967 [T/C] JHU_1.55480360 1 55480361 [A/G] JHU_1.55480756 1 55480757 [T/C] 1:55481104-G-A 1 55481104 [A/G] 1:55481748-T-A 1 55481748 [T/A] 1:55483991-C-T 1 55483991 [T/C] rs76096579 1 55484015 [T/C] rs2495505 1 55484810 [T/C] 1:55485200-G-A 1 55485200 [A/G] rs2479394 1 55486064 [A/G] rs11206507 1 55486117 [A/G] rs12117661 1 55487346 [G/C] 1:55487648-A-G 1 55487648 [A/G] exm-rs11206510 1 55496039 [T/C] rs11206510 1 55496039 [T/C] JHU_1.55496448 1 55496449 [A/T] 1:55497605-C-T 1 55497605 [T/C] rs55958021 1 55499162 [A/C] 1:55500382-T-G 1 55500382 [T/G] rs2182833 1 55500429 [A/G] 1:55500978-C-G 1 55500978 [G/C] 1:55502146-G-A 1 55502146 [A/G] 1:55502672-C-A 1 55502672 [A/C] 1:55503054-T-G 1 55503054 [T/G] rs2479408 1 55504188 [G/C] rs12096557 1 55504439 [A/G] exm-rs2479409 1 55504650 [A/G] rs2479409 1 55504650 [A/G] rs28362201 1 55505266 [T/G] NM_174936 PCSK9 EXON Silent ilmnseq_rs45448095 1 55505447 [T/C] NM_174936 PCSK9 EXON Silent 1:55505520-GA 1 55505520 [A/G] NM_174936 PCSK9 EXON Missense_V4I ilmnseq_rs886039838 1 55505555 [D/I] NM_174936 PCSK9 EXON 1:55505585-C-T 1 55505585 [T/C] NM_174936 PCSK9 EXON Synonymous_P25P 1:55039913 1 55505586 [A/G] NM_174936 PCSK9 EXON Missense_A26T 1:55505586 1 55505586 [A/G] NM_174936 PCSK9 EXON Missense_A26T ilmnseq_rs564427867 1 55505604 [A/G] NM_174936 PCSK9 EXON Missense_E32K ilmnseq_rs764603059 1 55505613 [T/G] NM_174936 PCSK9 EXON Missense_D35Y Variant48514 1 55505613 [T/G] NM_174936 PCSK9 EXON Missense_D35Y 1:55505640-GT 1 55505640 [T/G] NM_174936 PCSK9 EXON Missense_A44S rs11591147 1 55505647 [T/G] NM_174936 PCSK9 EXON Missense_R46L 1:55505650 1 55505650 [C/G] NM_174936 PCSK9 EXON Missense_S47C 1:55039977 1 55505650 [C/G] NM_174936 PCSK9 EXON Missense_S47C 1:55505651-C-T 1 55505651 [T/C] NM_174936 PCSK9 EXON Synonymous_S47S rs28385701 1 55505651 [T/C] NM_174936 PCSK9 EXON Synonymous_S47S 1:55039979 1 55505652 [A/G] NM_174936 PCSK9 EXON Missense_E48K 1:55505652 1 55505652 [A/G] NM_174936 PCSK9 EXON Missense_E48K exm62591 1 55505679 [A/G] NM_174936 PCSK9 EXON Missense_E57K ilmnseq_rs886039839 1 55505695 [A/C] NM_174936 PCSK9 EXON Missense_A62D 1:55505698-CA 1 55505698 [A/C] NM_174936 PCSK9 EXON Missense_T63N 1:55040049 1 55505722 [A/G] NM_174936 PCSK9 Silent 1:55505722 1 55505722 [A/G] NM_174936 PCSK9 Silent rs2495482 1 55505732 [A/G] NM_174936 PCSK9 Silent 1:55509009-G-A 1 55509009 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55509522-T-G 1 55509522 [T/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_W72G,Silent 1:55043883 1 55509556 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_K83T,Silent 1:55509556 1 55509556 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_K83T,Silent 1:55509575-G-A 1 55509575 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_S89S,Silent 1:55509584-G-A 1 55509584 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_E92E,Silent exm62598 1 55509585 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R93C,Silent rs185392267 1 55509594 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R96C,Silent 1:55509598-GA 1 55509598 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R97H,Silent 1:55509618-CT 1 55509618 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R104C,Silent Variant48516 1 55509622 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R105Q,Silent ilmnseq_rs1057519691 1 55509631 [T/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_L108R,Silent 1:55509644-G-A 1 55509644 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_L112L,Silent 1:55509689-T-A 1 55509689 [A/T] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_S127R,Silent rs28942111 1 55509689 [A/T] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_S127R,Silent 1:55509692-C-T 1 55509692 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_G128G,Silent ilmnseq_rs778738291 1 55509693 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_D129N,Silent 1:55509694 1 55509694 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_D129G,Silent 1:55044021 1 55509694 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_D129G,Silent ilmnseq_rs376653409 1 55509711 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55511327-C-T 1 55511327 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs644000 1 55511995 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs67608943 1 55512222 [C/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Nonsense_Y142X,Silent exm62606 1 55512222 [C/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Nonsense_Y142X,Silent chr1_55512260 1 55512260 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_P155L,Silent 1:55512266-A-G 1 55512266 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_N157S,Silent exm62607 1 55512267 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_N157K,Silent 1:55512275-G-A 1 55512275 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R160Q,Silent 1:55512289-C-T 1 55512289 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R165W,Silent 1:55512295-CT 1 55512295 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R167W,Silent Variant48517 1 55512316 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_P174S,Silent 1:55512318-C-T 1 55512318 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_P174P,Silent rs499718 1 55512549 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs2495478 1 55512995 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent JHU_1.55513042 1 55513043 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55513043-C-T 1 55513043 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55513183-C-T 1 55513183 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs11206514 1 55516004 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent JHU_1.55516673 1 55516674 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55517301-A-G 1 55517301 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent JHU_1.55517300 1 55517301 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent exm62616 1 55517952 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_D175D,Silent 1:55518036-C-T 1 55518036 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_T203T,Silent seq-rs793888521 1 55518037 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_D204N,Silent ilmnseq_rs793888521 1 55518037 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_D204N,Silent ilmnseq_rs375892354 1 55518054 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_P209P,Silent seq-rs794728683 1 55518071 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R215H,Silent rs28942112 1 55518073 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_F216L,Silent 1:55518073-T-C 1 55518073 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_F216L,Silent exm62621 1 55518085 [T/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent ilmnseq_rs376502208 1 55518092 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs11800243 1 55518093 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent JHU_1.55518197 1 55518198 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55518198-C-A 1 55518198 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs2483205 1 55518316 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55518321-AG 1 55518321 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent ilmnseq_rs768795323 1 55518323 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A220T,Silent 1:55518362-G-T 1 55518362 [T/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V233L,Silent rs7552471 1 55518370 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_S235S,Silent 1:55518374-CT 1 55518374 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R237W,Silent rs148195424 1 55518374 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R237W,Silent 1:55518382-C-T 1 55518382 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_A239A,Silent rs41297883 1 55518385 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_G240G,Silent 1:55518385-C-T 1 55518385 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_G240G,Silent 1:55518386-G-A 1 55518386 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V241M,Silent 1:55518417-G-A 1 55518417 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R251H,Silent exm2252207 1 55518418 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_R251R,Silent rs28385710 1 55518418 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_R251R,Silent exm62635 1 55518419 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V252M,Silent rs72646508 1 55518422 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_L253F,Silent exm62636 1 55518422 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_L253F,Silent 1:55518456-CT 1 55518456 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_T264I,Silent ilmnseq_rs2495477 1 55518467 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs7552841_ilmndup1 1 55518752 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs7552841 1 55518752 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs58255540 1 55518828 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent JHU_1.55519607 1 55519608 [G/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs1165287 1 55520212 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs634272 1 55520265 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs693668 1 55521109 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent JHU_1.55521351 1 55521352 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent exm62641 1 55521701 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_P279T,Silent ilmnseq_rs72646509 1 55521701 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_P279T,Silent exm62642 1 55521713 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_L283M,Silent chr1_55521758 1 55521758 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_N298D,Silent 1:55521806-GA 1 55521806 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A314T,Silent 1:55521846-CA 1 55521846 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_P327Q,Silent ilmnseq_rs376753957 1 55521859 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_P331P,Silent 1:55521859-C-T 1 55521859 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_P331P,Silent ilmnseq_rs768213924 1 55521870 [D/I] NM_174936,NR_110451 PCSK9,PCSK9 JHU_1.55521888 1 55521889 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55522869-C-T 1 55522869 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs509504 1 55523033 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_Q342Q,Silent 1:55523033-A-G 1 55523033 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_Q342Q,Silent 1:55523068 1 55523068 [A/T] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_N354I,Silent 1:55057395 1 55523068 [A/T] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_N354I,Silent ilmnseq_rs146471967 1 55523178 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_H391N,Silent ilmnseq_rs149097297 1 55523180 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_H391H,Silent 1:55057508 1 55523181 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V392M,Silent 1:55523181 1 55523181 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V392M,Silent rs368257906 1 55523187 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_G394S,Silent 1:55523187-G-A 1 55523187 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_G394S,Silent chr1_55523732 1 55523732 [T/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A402S,Silent 1:55523734-C-T 1 55523734 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_A402A,Silent rs143275858 1 55523779 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_H417Q,Silent exm62666 1 55523779 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_H417Q,Silent ilmnseq_rs28362261 1 55523802 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_N425S,Silent 1:55523822-GA 1 55523822 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_D432N,Silent Variant48523 1 55523828 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R434W,Silent IlmnSeq_rs28362263 1 55523855 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A443T,Silent rs28362263 1 55523855 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A443T,Silent exm2263351 1 55523855 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A443T,Silent 1:55524197-AG 1 55524197 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_V460V,Silent ilmnseq_rs778849441 1 55524211 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_S465L,Silent ilmnseq_rs146960060 1 55524212 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_S465S,Silent ilmnseq_rs772677312 1 55524216 [G/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_P467A,Silent 1:55058546 1 55524219 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_T468A,Silent 1:55524219 1 55524219 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_T468A,Silent exm62678 1 55524222 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R469W,Silent rs141502002 1 55524222 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R469W,Silent 1:55058555 1 55524228 [T/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A471S,Silent 1:55524228 1 55524228 [T/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A471S,Silent exm62679 1 55524237 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V474I,Silent rs562556 1 55524237 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V474I,Silent ilmnseq_rs761767572 1 55524243 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R476C,Silent 1:55524244-G-A 1 55524244 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R476H,Silent 1:55524248-CT 1 55524248 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_C477C,Silent 1:55524249-G-A 1 55524249 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A478T,Silent exm1834776 1 55524262 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_E482G,Silent 1:55524281-T-C 1 55524281 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_S488S,Silent rs374603772 1 55524303 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R496W,Silent Variant48526 1 55524303 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R496W,Silent 1:55524304-G-A 1 55524304 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R496Q,Silent rs139669564 1 55524304 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R496Q,Silent 1:55524308-C-T 1 55524308 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_G497G,Silent exm62688 1 55524309 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_E498K,Silent 1:55524312-CT 1 55524312 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R499C,Silent 1:55524313-G-T 1 55524313 [T/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R499L,Silent rs986151799 1 55524320 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_E501E,Silent JHU_1.55524386 1 55524387 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs568052 1 55524842 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent JHU_1.55524970 1 55524971 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent rs117389879 1 55524981 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55525143-C-T 1 55525143 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55525186-GA 1 55525186 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A511T,Silent ilmnseq_rs1057516136 1 55525192 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_N513D,Silent chr1_55525261 1 55525261 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V536I,Silent exm62698 1 55525301 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R549H,Silent ilmnseq_rs28362270 1 55525313 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_H553R,Silent exm62700 1 55525315 [G/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_Q554E,Silent ilmnseq_rs200529774 1 55525353 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55527093-CT 1 55527093 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_P576L,Silent 1:55527158-GA 1 55527158 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_A598T,Silent 1:55527213-CA 1 55527213 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_P616Q,Silent 1:55527214-G-A 1 55527214 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_P616P,Silent exm2252208 1 55527217 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_A617A,Silent 1:55527221-C-T 1 55527221 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Nonsense_Q619X,Silent rs28362277 1 55527222 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_Q619P,Silent exm62708 1 55527222 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_Q619P,Silent ilmnseq_rs568853401 1 55527235 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent JHU_1.55527478 1 55527479 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55528377-G-A 1 55528377 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 Silent,Silent 1:55529047-C-T 1 55529047 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_T623T,Silent Variant48527 1 55529048 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_V624M,Silent 1:55529056-C-T 1 55529056 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_C626C,Silent 1:55529107-C-T 1 55529107 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_H643H,Silent 1:55529122-C-T 1 55529122 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_Y648Y,Silent 1:55529132-A-G 1 55529132 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_N652D,Silent 1:55529137-G-A 1 55529137 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_T653T,Silent chr1_55529147 1 55529147 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R657G,Silent 1:55529153-C-T 1 55529153 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R659W,Silent 1:55529154-GA 1 55529154 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R659Q,Silent ilmnseq_rs755522807 1 55529157 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_D660A,Silent 1:55529158-C-T 1 55529158 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_D660D,Silent 1:55529169-C-T 1 55529169 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_T664I,Silent ilmnseq_rs775077080 1 55529180 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_S668G,Silent rs886046435 1 55529183 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_E669K,Silent ilmnseq_rs886046435 1 55529183 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_E669K,Silent IlmnSeq_rs505151 1 55529187 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_G670E,Silent 1:55529206-C-T 1 55529206 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_A676A,Silent rs28362286.1_F2BT 1 55529215 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Nonsense_C679X,Silent rs28362286.2_F2BT 1 55529215 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Synonymous_C679C,Silent exm62720 1 55529215 [A/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Nonsense_C679X,Silent 1:55529216-CT 1 55529216 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Missense_R680W,Silent 1:55529285-G-A 1 55529285 [A/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Silent,Silent 1:55529332-C-T 1 55529332 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Silent,Silent rs28362287 1 55529332 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Silent,Silent JHU_1.55529700 1 55529701 [C/G] NM_174936,NR_110451 PCSK9,PCSK9 EXON Silent,Silent 1:55530105-T-C 1 55530105 [T/C] NM_174936,NR_110451 PCSK9,PCSK9 EXON Silent,Silent 1:55531528-G-T 1 55531528 [T/G] 1:55535688-G-A 1 55535688 [A/G] NM_015306 USP24 Silent 1:55536386-G-A 1 55536386 [A/G] NM_015306 USP24 Silent JHU_1.55536525 1 55536526 [A/G] NM_015306 USP24 Silent 1:55537966-G-A 1 55537966 [A/G] NM_015306 USP24 Silent 1:55538497-GA 1 55538497 [A/G] NM_015306 USP24 EXON Missense_H2522Y rs10493176 1 55538552 [T/G] NM_015306 USP24 Silent 1:55539543-CA 1 55539543 [A/C] NM_015306 USP24 EXON Missense_R2495L 1:55539564-CA 1 55539564 [A/C] NM_015306 USP24 EXON Missense_S2488I 1:55539580-CA 1 55539580 [A/C] NM_015306 USP24 Silent rs2297564 1 55541050 [T/C] NM_015306 USP24 Silent rs487230 1 55541174 [A/G] NM_015306 USP24 EXON Missense_V2468A exm62737 1 55541174 [A/G] NM_015306 USP24 EXON Missense_V2468A exm62738 1 55541192 [A/G] NM_015306 USP24 EXON Missense_I2462T 1:55542933-GA 1 55542933 [A/G] NM_015306 USP24 EXON Missense_T2452M 1:55542960-GA 1 55542960 [A/G] NM_015306 USP24 EXON Missense_T2443M exm2233624 1 55545230 [C/G] NM_015306 USP24 EXON Missense_G2394A exm62750 1 55545240 [T/C] NM_015306 USP24 EXON Missense_M2391V rs17111584 1 55546696 [T/C] NM_015306 USP24 Silent exm62756 1 55548949 [T/C] NM_015306 USP24 EXON Missense_N2324S exm62758 1 55548991 [T/C] NM_015306 USP24 EXON Missense_R2310Q exm2252210 1 55549014 [A/C] NM_015306 USP24 EXON Synonymous_L2302L exm62761 1 55549014 [A/C] NM_015306 USP24 EXON Synonymous_L2302L 1:55549488-TG 1 55549488 [T/G] NM_015306 USP24 EXON Missense_N2280T JHU_1.55553567 1 55553568 [T/C] NM_015306 USP24 Silent JHU_1.55553568 1 55553569 [A/G] NM_015306 USP24 Silent 1:55555313-GA 1 55555313 [A/G] NM_015306 USP24 EXON Nonsense_R2219X rs17111595 1 55556007 [T/C] NM_015306 USP24 Silent 1:55559704-GA 1 55559704 [A/G] NM_015306 USP24 EXON Missense_P2087L exm62781 1 55560999 [T/A] NM_015306 USP24 EXON Missense_D2044E exm62783 1 55561048 [T/C] NM_015306 USP24 EXON Missense_R2028H rs17410974 1 55561295 [A/G] NM_015306 USP24 Silent JHU_1.55562021 1 55562022 [A/G] NM_015306 USP24 Silent rs76844953 1 55562022 [A/G] NM_015306 USP24 Silent 1:55562246-CT 1 55562246 [T/C] NM_015306 USP24 EXON Missense_E1996K 1:55562743-CT 1 55562743 [T/C] NM_015306 USP24 EXON Missense_G1940S rs140771519 1 55563203 [A/G] NM_015306 USP24 Silent 1:55563321-CA 1 55563321 [A/C] NM_015306 USP24 EXON Missense_G1889W exm2252211 1 55563340 [T/C] NM_015306 USP24 EXON Synonymous_V1882V exm62792 1 55563340 [T/C] NM_015306 USP24 EXON Synonymous_V1882V exm62795 1 55563710 [C/G] NM_015306 USP24 EXON Missense_S1834C 1:55565455-CA 1 55565455 [A/C] NM_015306 USP24 EXON Nonsense_E1787X 1:55565488-CA 1 55565488 [A/C] NM_015306 USP24 EXON Nonsense_E1776X 1:55565494-CA 1 55565494 [A/C] NM_015306 USP24 EXON Missense_A1774S 1:55565506-CA 1 55565506 [A/C] NM_015306 USP24 EXON Nonsense_E1770X 1:55566564-CA 1 55566564 [A/C] NM_015306 USP24 EXON Missense_G1740V exm62802 1 55567338 [A/C] NM_015306 USP24 EXON Missense_F1688L rs41301092 1 55571953 [T/C] NM_015306 USP24 Silent JHU_1.55573537 1 55573538 [A/C] NM_015306 USP24 Silent 1:55575867-CA 1 55575867 [A/C] NM_015306 USP24 EXON Missense_D1521Y 1:55575900-CA 1 55575900 [A/C] NM_015306 USP24 EXON Nonsense_E1510X 1:55585189-G-A 1 55585189 [A/G] NM_015306 USP24 Silent 1:55586300-GT 1 55586300 [T/G] NM_015306 USP24 EXON Missense_P1493T 1:55586405-GT 1 55586405 [T/G] NM_015306 USP24 EXON Missense_L1458M 1:55586422-CA 1 55586422 [A/C] NM_015306 USP24 EXON Missense_R1452L chr1_55587117 1 55587117 [T/G] NM_015306 USP24 EXON Missense_S1447R rs67171713 1 55590015 [T/C] NM_015306 USP24 Silent exm62826 1 55590202 [A/G] NM_015306 USP24 EXON Missense_P1354S variant.3747 1 55591067 [A/G] NM_015306 USP24 EXON Nonsense_R1296X exm62833 1 55591172 [T/C] NM_015306 USP24 EXON Missense_T1261A exm62835 1 55591192 [A/G] NM_015306 USP24 EXON Missense_T1254M 1:55591418-CA 1 55591418 [A/C] NM_015306 USP24 EXON Missense_V1217F exm2233626 1 55591427 [T/C] NM_015306 USP24 EXON Missense_V1214I 1:55594208-T-C 1 55594208 [T/C] NM_015306 USP24 Silent 1:55595758-C-T 1 55595758 [T/C] NM_015306 USP24 Silent rs118091437 1 55596001 [T/C] NM_015306 USP24 Silent exm62843 1 55598218 [T/C] NM_015306 USP24 EXON Synonymous_E1179E variant.3749 1 55599838 [T/C] NM_015306 USP24 Silent variant.3750 1 55599996 [T/C] NM_015306 USP24 Silent exm62850 1 55600058 [A/G] NM_015306 USP24 EXON Missense_A1077V rs185201791 1 55603184 [A/G] NM_015306 USP24 Silent exm62853 1 55603229 [T/C] NM_015306 USP24 EXON Missense_S1054G rs138779133 1 55604404 [A/G] NM_015306 USP24 Silent rs1165226 1 55608005 [T/C] NM_015306 USP24 Silent exm62885 1 55613326 [T/C] NM_015306 USP24 EXON Missense_R705Q exm62889 1 55613380 [A/G] NM_015306 USP24 EXON Missense_A687V 1:55614159-GT 1 55614159 [T/G] NM_015306 USP24 EXON Missense_Q649K JHU_1.55615712 1 55615713 [T/C] NM_015306 USP24 Silent rs1165227 1 55616754 [T/C] NM_015306 USP24 Silent rs116852197 1 55618518 [A/G] NM_015306 USP24 Silent 1:55622959-CA 1 55622959 [A/C] NM_015306 USP24 EXON Nonsense_E438X exm1835092 1 55622979 [C/G] NM_015306 USP24 EXON Missense_R431T rs12138592 1 55623757 [A/G] NM_015306 USP24 Silent exm62913 1 55624589 [A/C] NM_015306 USP24 EXON Missense_S397A 1:55624601-GA 1 55624601 [A/G] NM_015306 USP24 EXON Missense_R393C 1:55625284-CA 1 55625284 [A/C] NM_015306 USP24 EXON Missense_K356N 1:55625302-CA 1 55625302 [A/C] NM_015306 USP24 EXON Missense_E350D 1:55625304-CA 1 55625304 [A/C] NM_015306 USP24 EXON Nonsense_E350X rs17111684 1 55625548 [T/C] NM_015306 USP24 Silent rs183858768 1 55627974 [A/G] NM_015306 USP24 Silent rs1024305 1 55630204 [A/G] NM_015306 USP24 Silent exm62928 1 55631586 [T/C] NM_015306 USP24 EXON Missense_K300R JHU_1.55633668 1 55633669 [A/G] NM_015306 USP24 Silent JHU_1.55635423 1 55635424 [A/C] NM_015306 USP24 Silent rs75609523 1 55637433 [T/C] NM_015306 USP24 Silent exm62932 1 55638075 [A/G] NM_015306 USP24 EXON Missense_T226I 1:55642076-GT 1 55642076 [T/G] NM_015306 USP24 EXON Missense_D177E 1:55642108-CA 1 55642108 [A/C] NM_015306 USP24 EXON Nonsense_E167X rs145593216 1 55642426 [T/C] NM_015306 USP24 Silent exm62940 1 55643658 [T/C] NM_015306 USP24 EXON Missense_T158A rs184010487 1 55645252 [T/C] NM_015306 USP24 Silent rs11206521 1 55647272 [T/C] NM_015306 USP24 Silent rs1165218 1 55650914 [A/C] NM_015306 USP24 Silent rs12130799 1 55663372 [A/G] NM_015306 USP24 Silent JHU_1.55665309 1 55665310 [G/C] NM_015306 USP24 Silent JHU_1.55670238 1 55670239 [T/C] NM_015306 USP24 Silent JHU_1.55672057 1 55672058 [G/C] NM_015306 USP24 Silent rs6703366 1 55673420 [T/G] NM_015306 USP24 Silent rs67722862 1 55679666 [T/A] NM_015306 USP24 Silent 1:55680699-CT 1 55680699 [T/C] NM_015306 USP24 EXON Missense_A30T exm62949 1 55680722 [A/G] NM_015306 USP24 EXON Missense_T22I 1:55680755-GT 1 55680755 [T/G] NM_015306 USP24 EXON Missense_T11K JHU_1.55682628 1 55682629 [T/G] NR_038320 LOC100507634 EXON Silent rs114204075 1 55684181 [A/G] NR_146283 MIR4422HG Silent JHU_1.55687246 1 55687247 [A/G] NR_146283 MIR4422HG Silent rs11206524 1 55688016 [T/C] NR_146283 MIR4422HG Silent rs142951169 1 55688673 [T/C] NR_146283 MIR4422HG Silent rs17111728 1 55691384 [T/C] NR_146283,NR_039618 MIR4422HG,MIR4422 EXON Silent,Silent rs112171809 1 55692863 [T/A] NR_146283 MIR4422HG Silent rs74955119 1 55696300 [A/C] NR_146283 MIR4422HG Silent rs7550296 1 55696884 [T/C] NR_146283 MIR4422HG Silent rs76455745 1 55701872 [T/C] rs7541424 1 55703366 [T/C] rs75072359 1 55703414 [T/A] rs113422376 1 55703853 [A/G] JHU_1.55705612 1 55705613 [T/A] JHU_1.55705614 1 55705615 [A/T] JHU_1.55706037 1 55706038 [T/C] JHU_1.55706245 1 55706246 [T/G] rs7516915 1 55711825 [A/G] rs72662563 1 55712468 [T/C] JHU_1.55712852 1 55712853 [A/G] rs4927207 1 55713628 [A/G] JHU_1.55715833 1 55715834 [A/G] rs7551981 1 55719166 [T/G] JHU_1.55724316 1 55724317 [T/C] JHU_1.55724686 1 55724687 [A/G] JHU_1.55725044 1 55725045 [G/C] rs2647279 1 55725343 [A/G] rs11206540 1 55726556 [T/C] rs17111792 1 55727141 [A/G] rs4926674 1 55727195 [T/C] JHU_1.55728812 1 55728813 [T/G] rs35732141 1 55730696 [A/G] rs79685888 1 55734545 [A/G] rs60150391 1 55734934 [A/G] rs190187962 1 55738199 [T/C] rs6680729 1 55738797 [A/G] JHU_1.55742090 1 55742091 [A/G] JHU_1.55742091 1 55742092 [A/G] rs12035319 1 55742746 [T/C] exm-rs12239436 1 55742837 [A/G] JHU_1.55743231 1 55743232 [G/C] rs1874774 1 55743297 [T/G] rs9787299 1 55743352 [T/C] rs35101758 1 55744139 [G/C] JHU_1.55745010 1 55745011 [T/C] JHU_1.55749181 1 55749182 [A/C] JHU_1.55750912 1 55750913 [A/G] rs4927219 1 55751821 [A/G] JHU_1.55754881 1 55754882 [T/G] rs75552326 1 55757260 [A/G] JHU_1.55757289 1 55757290 [A/G] JHU_1.55766828 1 55766829 [A/T] JHU_1.55767518 1 55767519 [T/C] rs6680609 1 55771636 [T/C] rs13353041 1 55773756 [A/G] rs6657130 1 55774497 [T/C] rs12071251 1 55776971 [T/C] rs75511697 1 55777641 [T/C] JHU_1.55778276 1 55778277 [T/C] rs207154 1 55781281 [T/C] rs10888914 1 55786637 [T/C] rs10489489 1 55787758 [A/G] JHU_1.55790816 1 55790817 [G/C] rs2746675 1 55791171 [A/G] JHU_1.55792603 1 55792604 [T/C] JHU_1.55792924 1 55792925 [A/G] rs59139973 1 55793150 [A/G] rs77943492 1 55794891 [T/C] rs207170 1 55797288 [A/G] rs17111959 1 55798382 [T/C] rs2802884 1 55798691 [A/G] rs207164 1 55799770 [T/C] JHU_1.55801887 1 55801888 [A/G] rs138226060 1 55802233 [T/C] rs17111976 1 55802575 [T/G] rs207159 1 55803770 [A/G] JHU_1.55806464 1 55806465 [T/C] rs12146081 1 55806861 [A/C] rs207138 1 55811215 [T/C] rs12117114 1 55812880 [T/C] rs207136 1 55814164 [T/C] JHU_1.55814229 1 55814230 [T/C] JHU_1.55815838 1 55815839 [A/G] rs880385 1 55820099 [T/G] rs2647269 1 55822533 [A/G] rs74662103 1 55823715 [A/C] JHU_1.55824584 1 55824585 [A/G] rs207183 1 55825898 [A/G] rs7555489 1 55828641 [T/C] rs75957483 1 55831159 [T/C] JHU_1.55831158 1 55831159 [T/C] JHU_1.55831917 1 55831918 [T/C] rs12141667 1 55832031 [A/G] JHU_1.55832615 1 55832616 [A/G] JHU_1.55832968 1 55832969 [A/G] rs910270 1 55833351 [A/G] rs7520205 1 55834309 [A/G] JHU_1.55836080 1 55836081 [T/C] JHU_1.55838214 1 55838215 [A/G] rs75981521 1 55839318 [T/A] rs12726346 1 55840795 [A/G] rs77924001 1 55840950 [A/G] rs74699698 1 55841272 [A/C] rs370136268 1 55841338 [A/C] rs150424300 1 55843451 [A/G] JHU_1.55844291 1 55844292 [A/G] rs79432908 1 55845068 [A/T] rs78253149 1 55847064 [T/C] rs72904663 1 55847437 [T/C] rs72904680 1 55852966 [A/G] rs4926684 1 55852987 [A/G] rs12729814 1 55853604 [T/G] rs75347038 1 55856395 [T/G] rs116284390 1 55856617 [T/C] rs761484 1 55862783 [T/C] rs189686431 1 55863880 [T/C] rs147784250 1 55864110 [A/T] rs79683812 1 55864887 [T/C] rs12137035 1 55867983 [G/C] rs375039803 1 55869206 [A/C] rs2179851 1 55870348 [A/C] JHU_1.55871976 1 55871977 [A/G] rs2015252 1 55872780 [T/C] rs761483 1 55874284 [T/C] JHU_1.55874407 1 55874408 [T/C] JHU_1.55883760 1 55883761 [A/G] JHU_1.55884537 1 55884538 [A/G] rs6588558 1 55884720 [T/C] JHU_1.55890210 1 55890211 [A/C] rs79907247 1 55891362 [T/C] rs12022663 1 55904303 [T/C] rs12094871 1 55904827 [A/G] JHU_1.55906862 1 55906863 [T/C] rs4927235 1 55907494 [A/G] rs59012574 1 55911988 [T/C] rs440336 1 55920490 [A/G] rs10888923 1 55930462 [A/G] rs117081526 1 55931074 [T/C] JHU_1.55931110 1 55931111 [T/G] rs769891 1 55932300 [A/G] rs17112099 1 55934950 [A/G] rs4142664 1 55935941 [A/G] rs75170614 1 55935973 [T/C] rs61774682 1 55938297 [A/C] rs1499678 1 55939994 [T/C] JHU_1.55941428 1 55941429 [A/G] rs1740127 1 55941996 [A/G] rs17112145 1 55944537 [T/C] rs356088 1 55944571 [C/G] rs1980549 1 55945134 [A/G] rs7546894 1 55948307 [A/G] rs630446 1 55949987 [T/G] rs12043386 1 55953404 [A/G] rs61774698 1 55957883 [A/G] rs1998013 1 55958030 [T/C] rs72666093 1 55963680 [T/C] rs114599306 1 55964216 [A/C] rs1165390 1 55966764 [A/C] rs1780522 1 55968289 [T/C] rs17112231 1 55971798 [T/C] rs189593 1 55972596 [A/G] rs17112249 1 55976779 [A/G] rs17112260 1 55980605 [T/C] rs1695960 1 55983525 [A/G] rs145060798 1 55983545 [A/G] rs410923 1 55985876 [A/G] rs4253950 1 55986633 [A/G] rs1780541 1 55987794 [T/C] rs356081 1 55989646 [T/C] rs1078876 1 55989704 [A/G] rs186483226 1 55990062 [T/C] rs74537230 1 55990867 [T/G] rs356083 1 55991491 [T/C] rs75011723 1 55995048 [T/C] JHU_1.55999066 1 55999067 [A/G] rs149726725 1 56001534 [A/G] rs13374717 1 56002211 [A/G] JHU_1.56002628 1 56002629 [T/G] rs1695936 1 56002749 [A/G] rs12044949 1 56002908 [T/C] 1:56003570-G-A 1 56003570 [A/G] rs66942850 1 56003833 [A/G] rs1499655 1 56004861 [T/C] rs72667830 1 56005610 [G/C] rs10493197 1 56011258 [A/G] rs1392127 1 56015915 [T/C] JHU_1.56021896 1 56021897 [T/C] rs76472146 1 56021897 [T/C] rs9787362 1 56023333 [A/G] rs74795083 1 56025777 [A/G] rs6588562 1 56027175 [A/G] JHU_1.56027378 1 56027379 [T/C] 1:56034488-G-A 1 56034488 [A/G] exm2252228 1 56035952 [T/C] JHU_1.56036721 1 56036722 [A/G] rs1499672 1 56037629 [A/G] rs6680363 1 56039386 [G/C] rs141273980 1 56039987 [A/G] rs72667868 1 56040742 [T/G] rs4927255 1 56041961 [A/C] JHU_1.56042513 1 56042514 [T/C] rs72667878 1 56045655 [T/G] JHU_1.56046488 1 56046489 [T/C] JHU_1.56047604 1 56047605 [T/C] rs1695945 1 56050016 [T/C] rs181345182 1 56050424 [G/C] rs140258082 1 56052445 [T/A] rs10493194 1 56054865 [A/C] rs6681925 1 56055316 [A/G] rs17416725 1 56055463 [A/C] rs17416739 1 56055848 [T/C] rs7526426 1 56059223 [T/C] rs10888935 1 56060951 [T/A] rs4927258 1 56067651 [A/G] rs11807964 1 56068394 [T/C] JHU_1.56068497 1 56068498 [T/C] rs1514137 1 56068611 [T/G] rs1499665 1 56069516 [T/C] rs6704127 1 56070382 [A/C] rs115355814 1 56071806 [A/C] rs72910776 1 56072130 [A/G] rs7555929 1 56075918 [A/G] rs10749702 1 56078416 [T/C] rs72669721 1 56079347 [T/C] rs36062316 1 56080844 [T/C] JHU_1.56083870 1 56083871 [T/C] 1:56085263-A-T 1 56085263 [A/T] rs709397 1 56090323 [T/C] rs12741461 1 56091867 [A/G] JHU_1.56093305 1 56093306 [T/A] rs140988694 1 56093438 [T/C] JHU_1.56094888 1 56094889 [T/G] JHU_1.56098005 1 56098006 [T/A] rs72912611 1 56098983 [T/C] rs6700588 1 56099371 [A/C] rs1392138 1 56101597 [T/C] JHU_1.56102480 1 56102481 [A/G] rs12405865 1 56106506 [T/C] rs6669312 1 56106677 [A/G] JHU_1.56108271 1 56108272 [T/C] JHU_1.56110492 1 56110493 [T/C] rs79870726 1 56111503 [G/C] JHU_1.56112485 1 56112486 [T/C] rs1514135 1 56116232 [G/C] rs72669744 1 56116505 [T/C] rs78120087 1 56118065 [T/C] rs12029835 1 56119504 [A/G] rs7540786 1 56119747 [T/G] rs9436515 1 56120519 [T/C] JHU_1.56121574 1 56121575 [T/G] JHU_1.56123257 1 56123258 [T/C] rs9436978 1 56123510 [A/G] JHU_1.56125056 1 56125057 [A/C] JHU_1.56129138 1 56129139 [A/C] rs1955318 1 56133634 [A/G] rs35798048 1 56135774 [T/C] JHU_1.56138643 1 56138644 [A/G] rs116470285 1 56138644 [A/G] rs7518530 1 56143209 [A/G] rs188628041 1 56144941 [T/G] rs58586799 1 56152574 [A/G] rs2767503 1 56152725 [T/G] rs117686269 1 56157630 [T/C] rs142257405 1 56157806 [T/G] rs2767512 1 56158236 [A/G] rs1849680 1 56161430 [A/G] rs4927261 1 56161500 [T/C] rs1165481 1 56169157 [G/C] JHU_1.56170177 1 56170178 [A/G] JHU_1.56172056 1 56172057 [A/G] rs12091574 1 56178704 [A/G] JHU_1.56178786 1 56178787 [T/C] rs2671245 1 56179614 [T/C] JHU_1.56179909 1 56179910 [T/C] JHU_1.56182030 1 56182031 [A/C] JHU_1.56189017 1 56189018 [G/C] JHU_1.56190081 1 56190082 [A/C] rs72671429 1 56191008 [T/G] rs77061805 1 56193043 [C/G] rs4111070 1 56195659 [A/G] rs146369507 1 56195846 [A/C] rs76831627 1 56198190 [T/G] rs1184810 1 56204848 [A/G] JHU_1.56205637 1 56205638 [T/C] rs1165513 1 56207290 [A/G] rs17112735 1 56207532 [T/C] rs143808464 1 56209388 [T/C] rs74072757 1 56211217 [T/C] rs1165502 1 56216961 [T/G] rs1165500 1 56219293 [A/C] rs1165495 1 56222118 [A/G] JHU_1.56223365 1 56223366 [T/C] JHU_1.56223774 1 56223775 [T/C] rs149010459 1 56223893 [A/G] 1:56233972-G-A 1 56233972 [A/G] 1:56235187-T-A 1 56235187 [A/T] rs12095642 1 56239016 [A/T] rs749330 1 56240015 [T/C] rs12092608 1 56240702 [T/C] rs11577319 1 56243360 [A/G] JHU_1.56245856 1 56245857 [A/C] JHU_1.56246187 1 56246188 [A/G] rs3122551 1 56247216 [T/G] JHU_1.56254623 1 56254624 [A/T] JHU_1.56261204 1 56261205 [T/C] rs4474302 1 56268037 [T/C] rs4367814 1 56269821 [T/C] rs12035996 1 56271532 [A/G] rs11583637 1 56279652 [T/C] rs12564526 1 56279686 [A/G] rs76430911 1 56283822 [T/C] rs75961866 1 56284416 [A/C] rs4412634 1 56284965 [T/C] rs4512692 1 56287506 [A/G] rs12077235 1 56288116 [A/G] rs7549387 1 56290349 [A/G] rs4244650 1 56290747 [T/C] rs17112883 1 56292252 [A/C] rs75987270 1 56296339 [T/C] rs6691673 1 56297485 [A/G] JHU_1.56297912 1 56297913 [T/A] JHU_1.56302378 1 56302379 [T/C] rs6700187 1 56304503 [T/C] rs60368363 1 56306485 [A/G] rs58186426 1 56310427 [T/C] rs12026469 1 56311608 [A/T] JHU_1.56311698 1 56311699 [T/A] rs4497258 1 56317834 [A/G] rs17112932 1 56320291 [A/G] rs11206670 1 56322314 [A/C] rs4540693 1 56325957 [A/C] rs9326038 1 56326293 [A/G] rs6657176 1 56328238 [T/G] rs149376646 1 56328945 [T/C] rs139975800 1 56330255 [A/T] JHU_1.56332671 1 56332672 [T/A] rs79468555 1 56335244 [A/G] rs17113012 1 56341014 [A/G] rs17113017 1 56342281 [T/C] rs17113019 1 56342433 [T/C] rs115702329 1 56342618 [A/G] rs59699301 1 56342710 [C/G] rs7516605 1 56343290 [A/C] rs4926700 1 56344528 [A/G] rs140815385 1 56347999 [T/C] 1:56349216-T-C 1 56349216 [T/C] JHU_1.56359431 1 56359432 [T/C] rs6681658 1 56359597 [A/G] rs9803781 1 56359741 [T/C] rs17113092 1 56359754 [T/C] rs6684428 1 56359813 [A/T] rs117988644 1 56361374 [T/C] rs117251329 1 56367931 [A/G] rs75647919 1 56372470 [A/G] 1:56377169-G-A 1 56377169 [A/G] rs11800773 1 56382975 [T/C] NR_147162 LINC01753 Silent rs11206686 1 56394673 [A/G] NR_147162 LINC01753 Silent rs4573554 1 56398037 [T/C] NR_147162 LINC01753 Silent rs11206687 1 56401121 [T/C] NR_147162 LINC01753 Silent rs11206690 1 56407227 [A/G] NR_147162 LINC01753 Silent rs201829484 1 56407522 [T/A] NR_147162 LINC01753 Silent JHU_1.56408774 1 56408775 [A/G] NR_147162 LINC01753 Silent rs114115736 1 56408878 [A/C] NR_147162 LINC01753 Silent JHU_1.56413268 1 56413269 [A/C] NR_147161 LINC01755 Silent JHU_1.56413336 1 56413337 [T/C] NR_147161 LINC01755 Silent JHU_1.56413371 1 56413372 [A/G] NR_147161 LINC01755 Silent rs4614300 1 56413519 [T/C] NR_147161 LINC01755 Silent rs56375406 1 56413577 [A/G] NR_147161 LINC01755 Silent rs72906401 1 56414488 [T/C] NR_147161 LINC01755 Silent rs12037326 1 56415501 [A/G] NR_147161 LINC01755 Silent rs57329578 1 56415901 [C/G] JHU_1.56416319 1 56416320 [T/C] rs12040972 1 56417708 [A/G] rs12036133 1 56419752 [A/G] rs7540718 1 56420527 [T/G] exm2260457 1 56426838 [A/G] rs6588595 1 56429521 [T/C] JHU_1.56430741 1 56430742 [T/C] rs76875470 1 56431348 [T/C] rs76827955 1 56431856 [G/C] rs12409063 1 56432184 [A/G] rs76702442 1 56432743 [A/T] JHU_1.56432742 1 56432743 [A/T] rs142772212 1 56433745 [A/G] JHU_1.56437971 1 56437972 [T/C] rs61210945 1 56439360 [T/C] rs10489777 1 56439909 [A/C] rs77036895 1 56440881 [A/G] JHU_1.56443287 1 56443288 [T/A] rs11206704 1 56444449 [T/C] rs12029607 1 56446105 [T/C] rs11206708 1 56447612 [T/C] rs56332616 1 56449346 [A/G] rs78322280 1 56451947 [T/C] rs185326787 1 56452048 [T/C] rs79264660 1 56452636 [A/G] rs149389225 1 56456084 [T/A] rs146199478 1 56458280 [T/C] rs6677449 1 56458937 [A/G] exm2264840 1 56458937 [A/G] rs138718939 1 56462895 [T/C] 1:56464291-T-C 1 56464291 [T/C] rs117960653 1 56469910 [G/C] rs186502204 1 56470734 [A/G] rs149053187 1 56480469 [T/C] rs79651863 1 56484626 [T/C] rs183733381 1 56491287 [A/C] rs148256401 1 56497852 [T/G] rs17113288 1 56499478 [T/C] rs11206718 1 56502227 [A/G] rs11206722 1 56506564 [A/C] JHU_1.56510199 1 56510200 [T/C] JHU_1.56512763 1 56512764 [A/G] JHU_1.56518156 1 56518157 [A/G] rs74937684 1 56518307 [A/G] rs12077930 1 56528300 [T/C] rs11809059 1 56532335 [T/A] rs1412210 1 56541670 [T/C] rs6702275 1 56545484 [A/C] JHU_1.56548411 1 56548412 [T/C] rs144361424 1 56549124 [T/C] rs7538626 1 56553835 [T/C] rs1412215 1 56562921 [A/G] rs12025982 1 56564716 [A/G] rs188201489 1 56564948 [A/T] rs193042993 1 56586064 [T/C] rs6588607 1 56586286 [T/G] JHU_1.56586707 1 56586708 [A/G] JHU_1.56589737 1 56589738 [A/G] rs78209124 1 56591467 [T/C] rs10888957 1 56591630 [T/C] JHU_1.56592581 1 56592582 [T/G] rs148058811 1 56597502 [T/C] rs11206745 1 56598523 [T/C] rs150344120 1 56600691 [A/G] rs72675550 1 56603817 [A/G] rs778124 1 56606206 [A/G] 1:56610277-T-C 1 56610277 [T/C] rs12044098 1 56612899 [T/C] rs148075893 1 56613703 [A/G] rs1757915 1 56615809 [A/G] rs188365201 1 56615834 [A/G] rs116147745 1 56616517 [T/C] rs116794711 1 56620020 [T/G] rs1149640 1 56622011 [T/C] JHU_1.56631442 1 56631443 [T/G] rs706401 1 56633616 [T/C] rs183256265 1 56639368 [A/G] rs12048642 1 56641881 [A/G] rs778129 1 56642082 [A/G] rs1331862 1 56642998 [T/C] rs778420 1 56647914 [T/G] JHU_1.56654066 1 56654067 [A/G] rs1149648 1 56657399 [A/G] JHU_1.56659233 1 56659234 [A/C] rs17113488 1 56666118 [A/G] rs778432 1 56666809 [A/G] rs7554047 1 56668472 [T/C] rs143893179 1 56675212 [T/C] rs72675600 1 56678132 [A/G] rs706375 1 56681024 [T/C] JHU_1.56683953 1 56683954 [T/C] rs72675602 1 56684251 [A/G] rs139945730 1 56685931 [A/G] rs72677404 1 56686043 [T/C] rs7547680 1 56687749 [A/C] JHU_1.56690271 1 56690272 [T/C] JHU_1.56691923 1 56691924 [G/C] rs148698307 1 56693671 [A/T] rs706356 1 56694460 [A/C] rs146010439 1 56698793 [T/C] JHU_1.56702234 1 56702235 [A/G] JHU_1.56702576 1 56702577 [T/A] rs12121243 1 56703833 [T/C] rs10888961 1 56705585 [A/G] rs778413 1 56707637 [T/G] rs2793694 1 56715332 [T/C] rs1417768 1 56716407 [A/G] JHU_1.56716521 1 56716522 [T/C] rs2793662 1 56725516 [T/C] rs2793665 1 56729866 [G/C] rs78584325 1 56731258 [A/G] rs2792793 1 56735462 [T/G] rs2096086 1 56744527 [T/G] JHU_1.56751150 1 56751151 [A/G] rs17113634 1 56751839 [A/C] rs77740909 1 56752988 [C/G] rs1539058 1 56753249 [A/G] rs12755760 1 56754223 [A/C] rs2000141 1 56756491 [A/G] rs2793673 1 56756907 [T/C] JHU_1.56757284 1 56757285 [A/G] rs12742095 1 56760452 [T/C] rs12093273 1 56760514 [T/C] rs2000144 1 56760616 [A/G] JHU_1.56761922 1 56761923 [A/G] JHU_1.56770905 1 56770906 [A/T] rs3005884 1 56771709 [T/C] rs17460046 1 56778631 [C/G] rs12030407 1 56783362 [T/G] rs2994555 1 56783425 [A/G] JHU_1.56785068 1 56785069 [C/G] rs115516628 1 56785628 [T/C] rs3005897 1 56786595 [T/C] rs12138574 1 56790773 [T/C] rs4912189 1 56792726 [T/C] rs3005911 1 56794965 [A/G] rs3929899 1 56795419 [A/C] rs3121167 1 56797872 [G/C] JHU_1.56798092 1 56798093 [T/A] rs2994565 1 56798308 [A/G] JHU_1.56800133 1 56800134 [T/C] rs10159099 1 56800736 [A/G] JHU_1.56801095 1 56801096 [T/C] JHU_1.56801215 1 56801216 [A/G] rs12566405 1 56802279 [T/C] rs72660501 1 56806153 [T/C] rs61772735 1 56807661 [C/G] JHU_1.56812605 1 56812606 [A/G] rs4912413 1 56814694 [A/G] JHU_1.56817319 1 56817320 [G/C] JHU_1.56820974 1 56820975 [T/C] rs117906468 1 56821967 [T/G] JHU_1.56829252 1 56829253 [A/C] rs74073812 1 56829662 [A/G] JHU_1.56835508 1 56835509 [T/C] rs80009055 1 56835839 [C/G] rs34101846 1 56844031 [T/C] rs4600084 1 56844621 [T/G] rs79561920 1 56845259 [T/C] rs7553068 1 56846350 [A/G] rs7531629 1 56846589 [T/C] rs6588624 1 56849539 [A/G] rs56774080 1 56856089 [A/G] JHU_1.56856263 1 56856264 [T/G] JHU_1.56856627 1 56856628 [T/C] rs1931074 1 56860216 [T/C] rs75683557 1 56860285 [T/C] rs10493210 1 56861009 [A/G] JHU_1.56862928 1 56862929 [A/C] JHU_1.56862943 1 56862944 [T/C] JHU_1.56863841 1 56863842 [A/G] rs17113883 1 56870122 [T/C] rs1931078 1 56870834 [A/G] rs2991265 1 56872357 [T/C] rs17469007 1 56872794 [T/G] rs12035812 1 56873274 [A/G] rs3005922 1 56873524 [A/G] JHU_1.56874016 1 56874017 [T/C] rs17428956 1 56875043 [T/G] rs4489603 1 56876560 [A/G] rs4478852 1 56876600 [A/G] rs59747902 1 56883663 [A/G] rs12093027 1 56885111 [T/C] rs75695564 1 56885543 [T/C] rs7367993 1 56888166 [T/G] JHU_1.56889771 1 56889772 [A/C] JHU_1.56890525 1 56890526 [A/G] JHU_1.56890531 1 56890532 [A/G] JHU_1.56890640 1 56890641 [T/C] rs11206806 1 56892565 [A/G] rs2780859 1 56895392 [A/C] rs56201552 1 56895919 [G/C] rs72662262 1 56896968 [A/G] rs74682933 1 56897257 [T/C] JHU_1.56898573 1 56898574 [A/G] JHU_1.56898590 1 56898591 [A/G] rs1953115 1 56901407 [G/C] JHU_1.56902292 1 56902293 [A/G] JHU_1.56902724 1 56902725 [A/G] JHU_1.56902935 1 56902936 [A/G] JHU_1.56903091 1 56903092 [T/A] rs914836 1 56903435 [A/C] rs10789021 1 56903543 [A/C] rs72662266 1 56903616 [A/T] rs914838 1 56904162 [T/C] rs76249454 1 56905458 [A/G] JHU_1.56906702 1 56906703 [T/C] rs5011302 1 56907563 [T/C] JHU_1.56908356 1 56908357 [T/C] rs11206810 1 56910035 [A/G] rs77613232 1 56910581 [T/G] JHU_1.56912309 1 56912310 [T/C] rs12736058 1 56914341 [T/C] rs12122628 1 56914701 [T/G] rs1889145 1 56915820 [A/G] rs141135196 1 56919198 [A/G] rs61328989 1 56923192 [A/G] JHU_1.56925517 1 56925518 [A/G] rs76423990 1 56927409 [T/C] rs72662284 1 56927627 [A/G] JHU_1.56928441 1 56928442 [T/G] rs7368386 1 56929525 [A/C] JHU_1.56931472 1 56931473 [A/C] rs11206816 1 56932035 [A/G] rs61772578 1 56939235 [A/G] rs4912291 1 56941387 [T/C] JHU_1.56943123 1 56943124 [A/G] rs180778420 1 56947653 [T/G] JHU_1.56951642 1 56951643 [A/G] JHU_1.56951793 1 56951794 [A/G] rs150136915 1 56953541 [T/C] rs75442871 1 56954582 [A/G] rs4638151 1 56955386 [T/C] rs11206830 1 56960123 [T/C] rs8016 1 56961486 [T/C] NM_003713 PLPP3 EXON Silent 1:56962239-TC 1 56962239 [T/C] NM_003713 PLPP3 EXON Missense_H307R exm62980 1 56962264 [T/C] NM_003713 PLPP3 EXON Missense_V299M exm62982 1 56962311 [A/G] NM_003713 PLPP3 EXON Missense_T283M 1:56962314-GA 1 56962314 [A/G] NM_003713 PLPP3 EXON Missense_T282M exm62986 1 56962339 [T/C] NM_003713 PLPP3 EXON Missense_V274M rs17114036 1 56962821 [A/G] NM_003713 PLPP3 Silent exm-rs17114036 1 56962821 [A/G] NM_003713 PLPP3 Silent JHU_1.56964755 1 56964756 [G/C] NM_003713 PLPP3 Silent rs11206833 1 56965001 [T/C] NM_003713 PLPP3 Silent exm-rs9970807 1 56965664 [T/C] NM_003713 PLPP3 Silent exm-rs17114046 1 56966350 [A/G] NM_003713 PLPP3 Silent rs4912314 1 56968477 [T/C] NM_003713 PLPP3 Silent rs117113668 1 56972439 [T/C] NM_003713 PLPP3 Silent rs1319274 1 56974091 [A/G] NM_003713 PLPP3 Silent exm62993 1 56977808 [T/C] NM_003713 PLPP3 EXON Missense_R217H rs2404717 1 56979339 [T/G] NM_003713 PLPP3 Silent rs61772592 1 56979681 [A/G] NM_003713 PLPP3 Silent JHU_1.56981385 1 56981386 [A/C] NM_003713 PLPP3 Silent rs12081589 1 56981625 [T/C] NM_003713 PLPP3 Silent JHU_1.56983969 1 56983970 [T/C] NM_003713 PLPP3 Silent JHU_1.56986928 1 56986929 [A/G] NM_003713 PLPP3 Silent rs72664335 1 56986978 [T/G] NM_003713 PLPP3 Silent chr1_56989990 1 56989990 [T/G] NM_003713 PLPP3 EXON Missense_N178K 1:56990219-GA 1 56990219 [A/G] NM_003713 PLPP3 EXON Missense_T102M rs115899320 1 56992762 [T/C] NM_003713 PLPP3 Silent rs6688009 1 56995324 [T/C] NM_003713 PLPP3 Silent rs953857 1 56997125 [T/G] NM_003713 PLPP3 Silent rs869934 1 56999393 [T/C] NM_003713 PLPP3 Silent exm63008 1 57002627 [T/C] NM_003713 PLPP3 EXON Synonymous_A99A exm1838386 1 57002628 [A/G] NM_003713 PLPP3 EXON Missense_A99V exm63009 1 57002644 [T/C] NM_003713 PLPP3 EXON Missense_V94I JHU_1.57004243 1 57004244 [C/G] NM_003713 PLPP3 Silent rs1930760 1 57007539 [T/C] NM_003713 PLPP3 Silent JHU_1.57007790 1 57007791 [T/C] NM_003713 PLPP3 Silent rs76294340 1 57014332 [G/C] NM_003713 PLPP3 Silent rs7529520 1 57016477 [C/G] NM_003713 PLPP3 Silent rs11206841 1 57016862 [T/C] NM_003713 PLPP3 Silent rs56152906 1 57017057 [G/C] NM_003713 PLPP3 Silent JHU_1.57020649 1 57020650 [G/C] NM_003713 PLPP3 Silent JHU_1.57021471 1 57021472 [A/G] NM_003713 PLPP3 Silent JHU_1.57021727 1 57021728 [T/G] NM_003713 PLPP3 Silent rs72664363 1 57021957 [C/G] NM_003713 PLPP3 Silent rs7553307 1 57022282 [T/G] NM_003713 PLPP3 Silent rs116911657 1 57023216 [T/C] NM_003713 PLPP3 Silent rs17114100 1 57023541 [T/C] NM_003713 PLPP3 Silent rs118134530 1 57024383 [T/C] NM_003713 PLPP3 Silent rs1777283 1 57024560 [A/G] NM_003713 PLPP3 Silent rs75425984 1 57024719 [A/T] NM_003713 PLPP3 Silent rs72664370 1 57024795 [C/G] NM_003713 PLPP3 Silent JHU_1.57025233 1 57025234 [T/C] NM_003713 PLPP3 Silent JHU_1.57025650 1 57025651 [A/G] NM_003713 PLPP3 Silent JHU_1.57025851 1 57025852 [T/C] NM_003713 PLPP3 Silent rs77173061 1 57025852 [T/C] NM_003713 PLPP3 Silent rs12046509 1 57030487 [G/C] NM_003713 PLPP3 Silent rs191933240 1 57030616 [T/G] NM_003713 PLPP3 Silent rs79486091 1 57033821 [A/G] NM_003713 PLPP3 Silent rs142376386 1 57034076 [A/C] NM_003713 PLPP3 Silent rs2065553 1 57036017 [T/C] NM_003713 PLPP3 Silent rs4266914 1 57040828 [T/C] NM_003713 PLPP3 Silent rs933001 1 57042335 [T/C] NM_003713 PLPP3 Silent rs7539051 1 57042954 [A/G] NM_003713 PLPP3 Silent rs144393191 1 57045654 [A/G] rs4475779 1 57049977 [T/C] rs139199477 1 57054178 [T/C] rs17408450 1 57057316 [A/G] rs12748888 1 57059106 [A/C] rs72666403 1 57061178 [T/C] JHU_1.57061262 1 57061263 [T/A] JHU_1.57068037 1 57068038 [T/C] rs6663578 1 57068107 [T/C] rs141589375 1 57070014 [T/C] JHU_1.57070883 1 57070884 [T/C] rs115739188 1 57071045 [T/C] JHU_1.57072036 1 57072037 [T/C] rs12137489 1 57081328 [T/C] JHU_1.57086302 1 57086303 [T/C] rs2404987 1 57088605 [T/C] rs149238751 1 57091661 [A/C] rs2404990 1 57095904 [T/C] NR_135111 LOC101929935 Silent JHU_1.57096998 1 57096999 [A/C] NR_135111 LOC101929935 Silent JHU_1.57098372 1 57098373 [T/C] NR_135111 LOC101929935 Silent JHU_1.57098392 1 57098393 [A/C] NR_135111 LOC101929935 Silent rs10889000 1 57100380 [A/G] NR_135111 LOC101929935 Silent rs114901948 1 57101890 [T/G] NR_135111 LOC101929935 Silent rs11206884 1 57103362 [T/C] NR_135111 LOC101929935 Silent JHU_1.57108092 1 57108093 [A/G] NR_135111 LOC101929935 Silent rs74073774 1 57108536 [A/C] NR_135111 LOC101929935 Silent JHU_1.57109410 1 57109411 [A/C] NR_135111 LOC101929935 Silent 1:57111134-GA 1 57111134 [A/G] NM_006252 PRKAA2 EXON Missense_G25D JHU_1.57114278 1 57114279 [T/G] NM_006252 PRKAA2 Silent rs10749709 1 57114671 [T/C] NM_006252 PRKAA2 Silent rs11206887 1 57116909 [A/G] NM_006252 PRKAA2 Silent rs10789038 1 57117117 [A/G] NM_006252 PRKAA2 Silent rs11206889 1 57117248 [T/C] NM_006252 PRKAA2 Silent JHU_1.57118807 1 57118808 [A/T] NM_006252 PRKAA2 Silent rs72666484 1 57123547 [A/C] NM_006252 PRKAA2 Silent rs2746347 1 57126919 [T/C] NM_006252 PRKAA2 Silent rs2746339 1 57139370 [A/G] NM_006252 PRKAA2 Silent JHU_1.57142564 1 57142565 [T/C] NM_006252 PRKAA2 Silent JHU_1.57153845 1 57153846 [A/G] NM_006252 PRKAA2 Silent JHU_1.57155565 1 57155566 [C/G] NM_006252 PRKAA2 Silent rs2179761 1 57157544 [A/G] NM_006252 PRKAA2 Silent exm63033 1 57158052 [T/C] NM_006252 PRKAA2 EXON Missense_R118W rs145987132 1 57158052 [T/C] NM_006252 PRKAA2 EXON Missense_R118W rs17848596 1 57158150 [T/C] NM_006252 PRKAA2 EXON Synonymous_H150H variant.3754 1 57159485 [T/G] NM_006252 PRKAA2 EXON Nonsense_G175X 1:57159501-CT 1 57159501 [T/C] NM_006252 PRKAA2 EXON Missense_A180V rs187743510 1 57160556 [T/A] NM_006252 PRKAA2 Silent exm63042 1 57161694 [A/T] NM_006252 PRKAA2 EXON Missense_E217V 1:57161772-CT 1 57161772 [T/C] NM_006252 PRKAA2 EXON Missense_T243I 1:57161793-AG 1 57161793 [A/G] NM_006252 PRKAA2 EXON Missense_Q250R rs190412282 1 57169651 [G/C] NM_006252 PRKAA2 EXON Missense_E266Q exm63053 1 57169921 [T/G] NM_006252 PRKAA2 EXON Missense_A356S rs932447 1 57170229 [T/C] NM_006252 PRKAA2 Silent variant.3757 1 57171892 [A/G] NM_006252 PRKAA2 Silent chr1_57173322 1 57173322 [T/G] NM_006252 PRKAA2 EXON Missense_L532R exm63069 1 57173352 [T/C] NM_006252 PRKAA2 EXON Missense_M542T 1:57173369-AG 1 57173369 [A/G] NM_006252 PRKAA2 EXON Missense_T548A JHU_1.57174262 1 57174263 [T/C] NM_006252 PRKAA2 EXON Silent rs857148 1 57175158 [A/C] NM_006252 PRKAA2 EXON Silent rs4912411 1 57177244 [A/C] NM_006252 PRKAA2 EXON Silent JHU_1.57179386 1 57179387 [T/C] NM_006252 PRKAA2 EXON Silent rs9803799 1 57180072 [T/G] NM_006252 PRKAA2 EXON Silent rs706466 1 57180867 [A/G] NM_006252 PRKAA2 EXON Silent rs76095440 1 57181082 [A/G] rs706468 1 57181382 [A/G] rs10889011 1 57183148 [A/G] rs11804723 1 57184436 [A/G] variant.3758 1 57185353 [T/C] NM_001004303 FYB2 EXON Nonsense_W726X 1:57185356-A-ACTT 1 57185356 [D/I] NM_001004303 FYB2 EXON rs200605296 1 57185721 [A/C] NM_001004303 FYB2 EXON Nonsense_Y713X 1:57185907-ATTC-A 1 57185907 [I/D] NM_001004303 FYB2 EXON 1:57185965-GT 1 57185965 [T/G] NM_001004303 FYB2 EXON Missense_A671D rs57903838 1 57188879 [I/D] NM_001004303 FYB2 JHU_1.57189736 1 57189737 [T/C] NM_001004303 FYB2 Silent rs11206908 1 57191659 [T/G] NM_001004303 FYB2 Silent rs857138 1 57191924 [T/C] NM_001004303 FYB2 Silent variant.3766 1 57192252 [A/C] NM_001004303 FYB2 EXON Nonsense_E600X rs10489618 1 57192848 [A/G] NM_001004303 FYB2 Silent rs112765717 1 57193218 [A/G] NM_001004303 FYB2 Silent rs12735947 1 57194267 [A/G] NM_001004303 FYB2 Silent JHU_1.57196055 1 57196056 [A/G] NM_001004303 FYB2 Silent rs77638727 1 57200604 [T/C] NM_001004303 FYB2 Silent rs1832899 1 57201871 [T/C] NM_001004303 FYB2 Silent indel.3767 1 57202765 [D/I] NM_001004303 FYB2 EXON rs61765484 1 57203220 [A/G] NM_001004303 FYB2 Silent rs1935562 1 57203501 [T/C] NM_001004303 FYB2 Silent rs79541345 1 57204097 [G/C] NM_001004303 FYB2 Silent exm63104 1 57204316 [T/G] NM_001004303 FYB2 EXON Missense_I572L rs1857151 1 57205272 [C/G] NM_001004303 FYB2 Silent exm63108 1 57206385 [A/G] NM_001004303 FYB2 EXON Missense_S563L 1:57206409-CA 1 57206409 [A/C] NM_001004303 FYB2 EXON Missense_R555I variant.3769 1 57206470 [T/C] NM_001004303 FYB2 Silent JHU_1.57207264 1 57207265 [G/C] NM_001004303 FYB2 Silent newrs148260034 1 57207829 [T/C] NM_001004303 FYB2 Silent rs188719293 1 57207835 [G/C] NM_001004303 FYB2 EXON Missense_D535H rs138668500 1 57207874 [T/C] NM_001004303 FYB2 EXON Missense_E522K exm63118 1 57207874 [T/C] NM_001004303 FYB2 EXON Missense_E522K exm63119 1 57207896 [T/C] NM_001004303 FYB2 Silent rs139475749 1 57208188 [T/C] NM_001004303 FYB2 Silent rs2404996 1 57208422 [G/C] NM_001004303 FYB2 Silent rs56122223 1 57208851 [T/A] NM_001004303 FYB2 Silent 1:57209710-GT 1 57209710 [T/G] NM_001004303 FYB2 EXON Missense_A511D rs72907395 1 57209758 [A/G] NM_001004303 FYB2 Silent exm63127 1 57209853 [G/C] NM_001004303 FYB2 EXON Missense_D492H rs140047407 1 57209853 [G/C] NM_001004303 FYB2 EXON Missense_D492H newrs139281548 1 57209907 [A/C] NM_001004303 FYB2 EXON Nonsense_E474X exm63128 1 57209907 [A/C] NM_001004303 FYB2 EXON Nonsense_E474X exm63129 1 57209939 [T/C] NM_001004303 FYB2 EXON Missense_C463Y rs12137030 1 57211119 [T/C] NM_001004303 FYB2 Silent JHU_1.57212047 1 57212048 [T/C] NM_001004303 FYB2 Silent rs6666850 1 57215026 [T/C] NM_001004303 FYB2 Silent rs6696458 1 57216376 [A/G] NM_001004303 FYB2 Silent exm63130 1 57216747 [A/G] NM_001004303 FYB2 EXON Missense_P453S exm63133 1 57216786 [T/C] NM_001004303 FYB2 EXON Missense_M440V variant.3773 1 57216795 [A/G] NM_001004303 FYB2 EXON Nonsense_Q437X rs857111 1 57217116 [T/C] NM_001004303 FYB2 Silent JHU_1.57217320 1 57217321 [T/C] NM_001004303 FYB2 Silent rs146111063 1 57219244 [T/C] NM_001004303 FYB2 Silent chr1_57219522 1 57219522 [T/C] NM_001004303 FYB2 EXON Missense_H406R exm63139 1 57219539 [A/C] NM_001004303 FYB2 EXON Missense_K400N rs60981376 1 57219852 [A/G] NM_001004303 FYB2 Silent JHU_1.57221552 1 57221553 [T/G] NM_001004303 FYB2 Silent rs1774808 1 57221553 [T/G] NM_001004303 FYB2 Silent rs857107 1 57222599 [T/C] NM_001004303 FYB2 Silent rs10489620 1 57223201 [C/G] NM_001004303 FYB2 Silent rs140872494 1 57224150 [A/G] NM_001004303 FYB2 Silent exm63150 1 57224387 [A/T] NM_001004303 FYB2 Silent rs142698557 1 57224387 [A/T] NM_001004303 FYB2 Silent JHU_1.57226174 1 57226175 [T/A] NM_001004303 FYB2 Silent JHU_1.57228174 1 57228175 [T/A] NM_001004303 FYB2 Silent rs6671618 1 57229041 [T/G] NM_001004303 FYB2 Silent variant.3777 1 57233502 [A/G] NM_001004303 FYB2 EXON Missense_P355S rs17114306 1 57234514 [A/G] NM_001004303 FYB2 Silent JHU_1.57237585 1 57237586 [G/C] NM_001004303 FYB2 Silent rs11587540 1 57237586 [G/C] NM_001004303 FYB2 Silent rs1557145 1 57241234 [T/C] NM_001004303 FYB2 Silent rs17372114 1 57243454 [T/C] NM_001004303 FYB2 Silent rs1774818 1 57243686 [T/C] NM_001004303 FYB2 Silent rs56150387 1 57244399 [A/G] NM_001004303 FYB2 Silent rs116759396 1 57245019 [G/C] NM_001004303 FYB2 Silent rs1628364 1 57246269 [T/C] NM_001004303 FYB2 Silent rs1774822 1 57246662 [T/C] NM_001004303 FYB2 Silent rs1569746 1 57246968 [A/G] NM_001004303 FYB2 Silent rs118149914 1 57248138 [G/C] NM_001004303 FYB2 Silent rs1774825 1 57249558 [A/C] NM_001004303 FYB2 Silent rs11206916 1 57250296 [A/G] NM_001004303 FYB2 Silent rs184326825 1 57252355 [T/C] NM_001004303 FYB2 Silent rs6658389 1 57252494 [T/C] NM_001004303 FYB2 Silent exm63155 1 57252848 [G/C] NM_001004303 FYB2 EXON Missense_R318T exm63156 1 57252868 [G/C] NM_001004303 FYB2 EXON Missense_E311D rs12083007 1 57253137 [A/C] NM_001004303 FYB2 Silent 1:57254636-AC 1 57254636 [A/C] NM_001004303 FYB2 Silent exm63160 1 57254697 [A/G] NM_001004303 FYB2 EXON Missense_L290F rs112220774 1 57254729 [A/G] NM_001004303 FYB2 EXON Missense_P279L chr1_57254732 1 57254732 [A/G] NM_001004303 FYB2 EXON Missense_P278L exm63164 1 57254733 [A/G] NM_001004303 FYB2 EXON Missense_P278S exm63166 1 57254757 [A/G] NM_001004303 FYB2 EXON Missense_P270S rs145616104 1 57254757 [A/G] NM_001004303 FYB2 EXON Missense_P270S indel.3781 1 57254777 [D/I] NM_001004303 FYB2 EXON JHU_1.57257345 1 57257346 [A/G] NM_001004303 FYB2 Silent rs113924375 1 57257458 [T/C] NM_001004303 FYB2 Silent JHU_1.57257667 1 57257668 [A/C] NM_001004303 FYB2 Silent exm63168 1 57257735 [A/C] NM_001004303 FYB2 EXON Missense_A251S exm63169 1 57257778 [C/G] NM_001004303 FYB2 EXON Missense_S236R 1:57257783-CA 1 57257783 [A/C] NM_001004303 FYB2 EXON Missense_A235S variant.3785 1 57257978 [A/C] NM_001004303 FYB2 EXON Nonsense_E170X exm63182 1 57258111 [G/C] NM_001004303 FYB2 EXON Missense_I125M 1:57258116-TC 1 57258116 [T/C] NM_001004303 FYB2 EXON Missense_I124V indel.3786 1 57258131 [D/I] NM_001004303 FYB2 EXON exm63185 1 57258182 [T/C] NM_001004303 FYB2 EXON Missense_V102I 1:57258302-GA 1 57258302 [A/G] NM_001004303 FYB2 EXON Missense_R62C exm63192 1 57258320 [A/G] NM_001004303 FYB2 EXON Missense_S56P 1:57258340-CAA-C 1 57258340 [I/D] NM_001004303 FYB2 EXON 1:57258382-GT 1 57258382 [T/G] NM_001004303 FYB2 EXON Missense_S35Y rs8179502 1 57258885 [A/G] NM_001004303 FYB2 Silent rs61765528 1 57259948 [T/C] NM_001004303 FYB2 Silent rs78202314 1 57260371 [A/G] NM_001004303 FYB2 Silent JHU_1.57263627 1 57263628 [A/G] NM_001004303 FYB2 Silent rs34697176 1 57267056 [T/C] NM_001004303 FYB2 Silent rs1361730 1 57267946 [T/C] NM_001004303 FYB2 Silent rs6662617 1 57269521 [A/G] NM_001004303 FYB2 Silent JHU_1.57271133 1 57271134 [T/C] NM_001004303 FYB2 Silent JHU_1.57272771 1 57272772 [A/G] NM_001004303 FYB2 Silent rs947639 1 57273172 [T/C] NM_001004303 FYB2 Silent rs11206920 1 57273552 [A/C] NM_001004303 FYB2 Silent JHU_1.57275074 1 57275075 [T/A] NM_001004303 FYB2 Silent rs74073583 1 57275075 [T/A] NM_001004303 FYB2 Silent rs10749710 1 57275564 [A/G] NM_001004303 FYB2 Silent JHU_1.57275652 1 57275653 [T/C] NM_001004303 FYB2 Silent JHU_1.57275699 1 57275700 [A/G] NM_001004303 FYB2 Silent rs12133173 1 57275960 [A/G] NM_001004303 FYB2 Silent JHU_1.57276733 1 57276734 [T/C] NM_001004303 FYB2 Silent JHU_1.57277655 1 57277656 [A/C] NM_001004303 FYB2 Silent JHU_1.57278095 1 57278096 [A/G] NM_001004303 FYB2 Silent rs74798634 1 57278791 [T/C] NM_001004303 FYB2 Silent rs115651648 1 57280043 [T/C] NM_001004303 FYB2 Silent rs6670596 1 57282068 [T/C] NM_001004303 FYB2 Silent rs6673223 1 57282318 [T/G] NM_001004303 FYB2 Silent JHU_1.57282950 1 57282951 [A/G] NM_001004303 FYB2 Silent rs17114404 1 57283889 [A/G] NM_001004303 FYB2 Silent JHU_1.57284173 1 57284174 [T/C] NM_001004303 FYB2 Silent exm63199 1 57284960 [C/G] NM_001004303 FYB2 EXON Missense_E2Q JHU_1.57285435 1 57285436 [T/C] rs12137176 1 57285513 [C/G] rs115146712 1 57285616 [A/G] rs58816092 1 57287392 [A/G] JHU_1.57296982 1 57296983 [T/G] JHU_1.57297420 1 57297421 [A/G] rs114197264 1 57297470 [A/C] rs2185778 1 57299393 [A/C] rs61227099 1 57300791 [A/G] rs12032625 1 57301685 [A/C] rs947635 1 57302549 [A/C] JHU_1.57302918 1 57302919 [T/G] JHU_1.57302934 1 57302935 [T/G] rs12122510 1 57303274 [A/G] JHU_1.57303892 1 57303893 [T/C] JHU_1.57306731 1 57306732 [A/G] JHU_1.57308996 1 57308997 [A/G] rs857041 1 57309762 [A/G] rs857039 1 57310582 [T/C] rs880657 1 57311779 [T/G] rs706470 1 57315770 [T/G] rs1033729 1 57316268 [T/C] rs72913434 1 57317437 [T/C] rs647962 1 57318178 [T/C] JHU_1.57320022 1 57320023 [A/G] exm2233631 1 57320444 [A/G] NM_000562 C8A EXON Silent rs192696675 1 57320600 [T/C] NM_000562 C8A EXON Missense_L9S exm1839082 1 57320600 [T/C] NM_000562 C8A EXON Missense_L9S rs6701085 1 57326937 [A/G] NM_000562 C8A Silent exm63203 1 57333293 [A/G] NM_000562 C8A EXON Missense_R30Q exm63204 1 57333304 [T/C] NM_000562 C8A EXON Missense_P34S exm63206 1 57333311 [A/C] NM_000562 C8A EXON Missense_A36E variant.3787 1 57333336 [A/G] NM_000562 C8A EXON Nonsense_W44X rs200247116 1 57333359 [T/C] NM_000562 C8A EXON Missense_P52L chr1_57333371 1 57333371 [A/G] NM_000562 C8A EXON Missense_K56R variant.3788 1 57333376 [T/G] NM_000562 C8A Silent rs76570168 1 57338222 [T/C] NM_000562 C8A Silent rs706473 1 57339034 [A/G] NM_000562 C8A Silent rs114890786 1 57339447 [A/G] NM_000562 C8A Silent rs1885002 1 57340381 [A/G] NM_000562 C8A Silent 1:57340626-GA 1 57340626 [A/G] NM_000562 C8A EXON Missense_R59Q exm63213 1 57340632 [A/G] NM_000562 C8A EXON Missense_R61Q 1:57340665-CT 1 57340665 [T/C] NM_000562 C8A EXON Missense_T72I exm63220 1 57340727 [A/C] NM_000562 C8A EXON Missense_Q93K exm63223 1 57341737 [T/C] NM_000562 C8A EXON Missense_R107C 1:57341771-AG 1 57341771 [A/G] NM_000562 C8A EXON Missense_D118G rs145228353 1 57341837 [A/G] NM_000562 C8A EXON Missense_C140Y 1:57347129-TC 1 57347129 [T/C] NM_000562 C8A EXON Missense_L159P 1:57347152-GA 1 57347152 [A/G] NM_000562 C8A EXON Missense_V167M exm63233 1 57347189 [T/C] NM_000562 C8A EXON Missense_T179M rs6588656 1 57348323 [T/C] NM_000562 C8A Silent rs10489624 1 57349614 [T/C] NM_000562 C8A Silent exm63259 1 57351704 [T/G] NM_000562 C8A EXON Missense_E320D indel.3791 1 57351823 [D/I] NM_000562 C8A EXON rs12137460 1 57351943 [T/C] NM_000562 C8A Silent 1:57354155-C-A 1 57354155 [A/C] NM_000562 C8A Silent rs6686359 1 57356580 [T/C] NM_000562 C8A Silent rs78925282 1 57362847 [A/G] NM_000562 C8A Silent rs6700128 1 57363141 [G/C] NM_000562 C8A Silent rs1329450 1 57365481 [T/C] NM_000562 C8A Silent 1:57372453-GT 1 57372453 [T/G] NM_000562 C8A EXON Missense_G404C exm63264 1 57372463 [T/C] NM_000562 C8A EXON Missense_T407I variant.3792 1 57372466 [A/G] NM_000562 C8A Silent Variant48531 1 57373676 [T/C] NM_000562 C8A EXON Nonsense_R424X 1:57373727-AG 1 57373727 [A/G] NM_000562 C8A EXON Missense_I441V rs143908758 1 57373737 [A/G] NM_000562 C8A EXON Missense_R444H exm63273 1 57373737 [A/G] NM_000562 C8A EXON Missense_R444H exm63276 1 57373778 [A/G] NM_000562 C8A EXON Missense_D458N rs17114555 1 57373778 [A/G] NM_000562 C8A EXON Missense_D458N rs78922511 1 57374577 [T/C] NM_000562 C8A Silent exm63280 1 57378119 [G/C] NM_000562 C8A EXON Missense_P475R rs202042786 1 57378193 [A/G] NM_000562 C8A EXON Missense_G500R indel.3794 1 57378209 [I/D] NM_000562 C8A EXON exm63293 1 57378223 [T/C] NM_000562 C8A EXON Missense_L510F JHU_1.57379323 1 57379324 [T/C] NM_000562 C8A Silent rs11206934 1 57379401 [T/C] NM_000562 C8A Silent rs1754538 1 57379639 [T/C] NM_000562 C8A Silent rs55646893 1 57379734 [T/C] NM_000562 C8A Silent rs56143927 1 57380064 [T/C] NM_000562 C8A Silent rs112176562 1 57381904 [T/C] NM_000562 C8A Silent rs77710785 1 57382632 [A/T] NM_000562 C8A Silent exm1839256 1 57383288 [A/G] NM_000562 C8A EXON Missense_R552G rs148949314 1 57383295 [A/G] NM_000562 C8A EXON Missense_G554D exm63300 1 57383295 [A/G] NM_000562 C8A EXON Missense_G554D 1:57383352-CT 1 57383352 [T/C] NM_000562 C8A EXON Missense_S573L exm63307 1 57383357 [T/C] NM_000562 C8A EXON Missense_P575S exm63308 1 57383358 [T/C] NM_000562 C8A EXON Missense_P575L exm63310 1 57383376 [T/C] NM_000562 C8A EXON Missense_T581M JHU_1.57385022 1 57385023 [T/A] rs12408409 1 57386034 [T/C] JHU_1.57386884 1 57386885 [T/C] rs2149735 1 57389872 [T/G] rs75398679 1 57393189 [T/C] JHU_1.57394162 1 57394163 [A/C] JHU_1.57394177 1 57394178 [T/C] JHU_1.57394615 1 57394616 [G/C] exm2233633 1 57395130 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_N575D,Missense_N513D,Missense_N523D 1:57395196-TC 1 57395196 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_N553D,Missense_N491D,Missense_N501D rs591730 1 57396014 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs142870813 1 57399155 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_P469S,Missense_P407S,Missense_P417S JHU_1.57399814 1 57399815 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs676480 1 57400575 [A/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent JHU_1.57402186 1 57402187 [T/A] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs200077558 1 57406565 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_W452S,Missense_W390S,Missense_W400S exm1839344 1 57406565 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_W452S,Missense_W390S,Missense_W400S exm63335 1 57406586 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_T445M,Missense_T383M,Missense_T393M rs856841 1 57406633 [T/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Synonymous_G429G,Synonymous_G367G,Synonymous_G377G exm63338 1 57406637 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R428Q,Missense_R366Q,Missense_R376Q rs41286844 1 57406638 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Nonsense_R428X,Nonsense_R366X,Nonsense_R376X exm63339 1 57406638 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Nonsense_R428X,Nonsense_R366X,Nonsense_R376X rs598772 1 57409034 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent chr1_57409380 1 57409380 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_N408S,Missense_N346S,Missense_N356S exm63348 1 57409459 [A/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_D382Y,Missense_D320Y,Missense_D330Y rs41286848 1 57409584 [T/A] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent JHU_1.57409743 1 57409744 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs656598 1 57410145 [A/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent exm63350 1 57411524 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_V359I,Missense_V297I,Missense_V307I rs141136423 1 57411587 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R338C,Missense_R276C,Missense_R286C 1:57411587-GA 1 57411587 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R338C,Missense_R276C,Missense_R286C exm63359 1 57411632 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R323W,Missense_R261W,Missense_R271W rs141295453 1 57411632 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R323W,Missense_R261W,Missense_R271W rs146176997 1 57411642 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_Q319H,Missense_Q257H,Missense_Q267H exm63360 1 57411642 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_Q319H,Missense_Q257H,Missense_Q267H 1:57411691-TC 1 57411691 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_H303R,Missense_H241R,Missense_H251R exm63366 1 57411713 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R296C,Missense_R234C,Missense_R244C rs2269113 1 57412260 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs582317 1 57413768 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent variant.3798 1 57415242 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Nonsense_R284X,Nonsense_R222X,Nonsense_R232X exm63372 1 57415263 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_H277D,Missense_H215D,Missense_H225D exm63376 1 57415310 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_P261L,Missense_P199L,Missense_P209L exm63379 1 57415368 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R242C,Missense_R180C,Missense_R190C JHU_1.57416144 1 57416145 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs658285 1 57416335 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs1960384 1 57417592 [A/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent 1:57417728-GA 1 57417728 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_T220M,Missense_T158M,Missense_T168M exm63388 1 57417782 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_P202L,Missense_P140L,Missense_P150L 1:57417806-CA 1 57417806 [A/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_R194M,Missense_R132M,Missense_R142M chr1_57417824 1 57417824 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_G188D,Missense_G126D,Missense_G136D exm63393 1 57417833 [C/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_S185T,Missense_S123T,Missense_S133T rs200647490 1 57420377 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_I172T,Missense_I110T,Missense_I120T exm63397 1 57420448 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_D148E,Missense_D86E,Missense_D96E JHU_1.57420626 1 57420627 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs620092 1 57421166 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent 1:57422456-AG 1 57422456 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_V126A,Missense_V64A,Missense_V74A newrs150022116 1 57422472 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Nonsense_R121X,Nonsense_R59X,Nonsense_R69X exm63405 1 57422484 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_G117R,Missense_G55R,Missense_G65R Variant48536 1 57422496 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_N113D,Missense_N51D,Missense_N61D Variant15911 1 57422497 [D/I] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON exm63406 1 57422511 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_E108K,Missense_E46K,Missense_E56K rs12067507 1 57422511 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_E108K,Missense_E46K,Missense_E56K exm63410 1 57422562 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Nonsense_Q91X,Nonsense_Q29X,Nonsense_Q39X exm1839402 1 57422576 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_Y86C,Missense_Y24C,Missense_Y34C JHU_1.57424182 1 57424183 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent 1:57425225-GA 1 57425225 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Silent,Missense_R14C,Silent exm63414 1 57425730 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_S71C,Silent,Missense_S19C exm63417 1 57425778 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_S55N,Silent,Missense_S3N exm63419 1 57425810 [G/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_N44K,Silent,Silent JHU_1.57425897 1 57425898 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs115863709 1 57426897 [T/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs856843 1 57427251 [A/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs600876 1 57428866 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs737097 1 57428887 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent rs927213 1 57429248 [A/G] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B Silent,Silent,Silent indel.3804 1 57431548 [I/D] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON variant.3805 1 57431595 [T/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Nonsense_W9X,Silent,Silent exm1839462 1 57431601 [A/C] NM_000066,NM_001278544,NM_001278543 C8B,C8B,C8B EXON Missense_W7C,Silent,Silent rs2480413 1 57432128 [T/C] rs61767011 1 57434233 [T/C] JHU_1.57436664 1 57436665 [T/C] rs114798719 1 57437610 [A/G] JHU_1.57438028 1 57438029 [T/G] rs75974409 1 57438766 [A/C] rs11206939 1 57438768 [A/C] rs1754511 1 57438919 [A/G] JHU_1.57439919 1 57439920 [A/G] rs1623113 1 57441363 [A/G] rs78386196 1 57442245 [T/C] rs140012455 1 57445078 [T/C] rs116511296 1 57445474 [A/T] JHU_1.57446426 1 57446427 [T/C] JHU_1.57446444 1 57446445 [T/C] JHU_1.57447049 1 57447050 [T/G] JHU_1.57448129 1 57448130 [A/G] 1:57467428-T-C 1 57467428 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs515493 1 57469961 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs114941053 1 57476376 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_G554C,Missense_G554C,Missense_G552C,Missense_G554C exm63427 1 57476376 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_G554C,Missense_G554C,Missense_G552C,Missense_G554C 1KG_1_57476862 1 57476862 [I/D] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON rs6684103 1 57478342 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent exm63453 1 57480822 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_T393M,Missense_T393M,Missense_T391M,Missense_T393M 1:57481000-GA 1 57481000 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_P334S,Missense_P334S,Missense_P332S,Missense_P334S rs199793708 1 57481012 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_A330T,Missense_A330T,Missense_A328T,Missense_A330T 1:57481066-CT 1 57481066 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_G312S,Missense_G312S,Missense_G310S,Missense_G312S rs706353 1 57485219 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57485241 1 57485242 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent exm63470 1 57489225 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_G292S,Missense_G292S,Missense_G290S,Missense_G292S exm63472 1 57489239 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_S287N,Missense_S287N,Missense_S285N,Missense_S287N rs138384213 1 57489261 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_P280S,Missense_P280S,Missense_P278S,Missense_P280S 1:57489306-CT 1 57489306 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_A265T,Missense_A265T,Missense_A263T,Missense_A265T 1:57489399-A-G 1 57489399 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent newrs138352976 1 57491654 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Synonymous_P262P,Synonymous_P262P,Synonymous_P260P,Synonymous_P262P rs706363 1 57493551 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent 1:57499094-GT 1 57499094 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent 1:57499222-CT 1 57499222 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57500976 1 57500977 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs72903354 1 57501895 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57504529 1 57504530 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs12033358 1 57506698 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs9651187 1 57512345 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs58394001 1 57512519 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs17114879 1 57513565 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57514722 1 57514723 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57517122 1 57517123 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs3820578 1 57517439 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57517842 1 57517843 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs11206964 1 57524101 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs534455 1 57525112 [C/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs72903393 1 57526675 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57528142 1 57528143 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent 1:57528551-TACTTAC-T 1 57528551 [D/I] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 exm63486 1 57528562 [C/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_V240L,Missense_V240L,Silent,Missense_V240L exm63487 1 57528609 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_T224I,Missense_T224I,Missense_T224I,Missense_T224I rs35649120 1 57531590 [I/D] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 exm63489 1 57535052 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_T215M,Missense_T215M,Missense_T215M,Missense_T215M 1:57535065-GA 1 57535065 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_R211C,Missense_R211C,Missense_R211C,Missense_R211C rs476744 1 57535630 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs17418461 1 57536582 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent 1:57536661-TC 1 57536661 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs6657073 1 57537652 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs190682807 1 57538076 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_H106Q,Missense_H106Q,Missense_H106Q,Missense_H106Q exm1840143 1 57538076 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_H106Q,Missense_H106Q,Missense_H106Q,Missense_H106Q rs3768190 1 57540909 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs58424571 1 57541033 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs3729546 1 57541619 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs78902686 1 57542643 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs78571196 1 57542718 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs486706 1 57542783 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57545506 1 57545507 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs478199 1 57545822 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57546417 1 57546418 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs17114957 1 57547097 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57551325 1 57551326 [G/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs11206971 1 57555391 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs138522063 1 57558421 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs517412 1 57560649 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs3768179 1 57560891 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs573307 1 57560931 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs17115000 1 57561106 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57561900 1 57561901 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs482373 1 57562190 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs114557842 1 57564551 [A/T] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs1271198 1 57566419 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs11206973 1 57568923 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs6587764 1 57569847 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57569959 1 57569960 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs114213511 1 57570776 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs561503 1 57571980 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57577372 1 57577373 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs9803840 1 57579005 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs10493215 1 57579610 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs534080 1 57584721 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs189573537 1 57587943 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57590586 1 57590587 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs3768168 1 57591450 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57595737 1 57595738 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs17115155 1 57599656 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs519401 1 57599834 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57602160 1 57602161 [C/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent 1:57602299-CA 1 57602299 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_A75S,Missense_A75S,Missense_A75S,Missense_A75S exm63507 1 57602311 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 EXON Missense_V71I,Missense_V71I,Missense_V71I,Missense_V71I rs563921 1 57602383 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs116104907 1 57603014 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent JHU_1.57604519 1 57604520 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent rs537307 1 57606098 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985 DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent exm2260473 1 57610673 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 EXON Silent,Silent,Silent,Silent,Silent newrs148293352 1 57610963 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 EXON Synonymous_K69K,Synonymous_K69K,Synonymous_K69K,Synonymous_K69K,Synonymous_K69K JHU_1.57611922 1 57611923 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs74074205 1 57613046 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs148696468 1 57613121 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs17115210 1 57613167 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57615869 1 57615870 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57616801 1 57616802 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs111999236 1 57621161 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs61765334 1 57622223 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57624211 1 57624212 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs17541203 1 57625932 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs11206979 1 57627037 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs1831870 1 57627203 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs11206981 1 57627548 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs11206982 1 57628278 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs6670988 1 57629549 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs74074241 1 57631339 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57636975 1 57636976 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57639618 1 57639619 [A/T] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs7530049 1 57641475 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs149766 1 57642394 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57642508 1 57642509 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197111 1 57643271 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs10489464 1 57643701 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57643970 1 57643971 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs78338197 1 57644761 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs72917109 1 57645257 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs1504589 1 57645301 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs9970802 1 57646661 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs74074150 1 57648439 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197110 1 57648776 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs78756193 1 57649833 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs58359668 1 57650410 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs17115265 1 57651129 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57651128 1 57651129 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs67730723 1 57651543 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs113297050 1 57652906 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs155304 1 57653289 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs72917143 1 57656080 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs155298 1 57656501 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12080233 1 57658178 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs74760545 1 57658418 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs688382 1 57659614 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57660026 1 57660027 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57660043 1 57660044 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs72672686 1 57660283 [C/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs61767517 1 57660651 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs72917170 1 57662098 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs480836 1 57662361 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs932508 1 57665337 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197614 1 57665590 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs144670170 1 57665867 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs1847538 1 57666699 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs1847537 1 57666901 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57668001 1 57668002 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs143033357 1 57668706 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs72919244 1 57669558 [C/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs61765582 1 57670074 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs80103696 1 57674126 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs79979533 1 57674930 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197606 1 57679080 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197603 1 57679608 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs114593504 1 57679716 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs10489468 1 57684025 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57684767 1 57684768 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs76816950 1 57685148 [T/A] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs61765592 1 57685363 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197617 1 57685971 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197621 1 57689631 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57696007 1 57696008 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs657471 1 57697059 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs140806432 1 57697867 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57697866 1 57697867 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57701386 1 57701387 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57704205 1 57704206 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs169100 1 57704356 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12064662 1 57709166 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197626 1 57709358 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12070321 1 57709435 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12132898 1 57721731 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197644 1 57722095 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197641 1 57722883 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs197636 1 57726537 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs2551484 1 57734544 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57736492 1 57736493 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs584147 1 57737411 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs74834332 1 57739164 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs596784 1 57744259 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs77643662 1 57747330 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57747885 1 57747886 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs492781 1 57749426 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57750113 1 57750114 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent 1:57756660-CT 1 57756660 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 EXON Missense_A15T,Missense_A15T,Missense_A15T,Missense_A15T,Missense_A15T rs595513 1 57756980 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57760457 1 57760458 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent exm2264841 1 57760458 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57765316 1 57765317 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57771659 1 57771660 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12564258 1 57771854 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs74773018 1 57772758 [G/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57776937 1 57776938 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57778544 1 57778545 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57778561 1 57778562 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57778631 1 57778632 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57779512 1 57779513 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57779547 1 57779548 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs267643 1 57780302 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57780600 1 57780601 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs17422469 1 57781060 [A/T] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57782280 1 57782281 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs1149629 1 57782780 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs746937 1 57784144 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs139332290 1 57784897 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs185478810 1 57785471 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs34475805 1 57786762 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57789379 1 57789380 [A/T] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs114626393 1 57792964 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57795351 1 57795352 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs72674849 1 57797238 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs4912163 1 57800885 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs78713024 1 57802808 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs11207011 1 57803349 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs140869777 1 57804604 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs185135269 1 57805451 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent exm-rs10159302 1 57805550 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12096950 1 57805828 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12139429 1 57812260 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs148372466 1 57814237 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs11800574 1 57814771 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs79869292 1 57817653 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs1424465 1 57820539 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57822981 1 57822982 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs74763117 1 57826903 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs115659376 1 57829694 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57830543 1 57830544 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs72674873 1 57830687 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12734724 1 57831839 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57839873 1 57839874 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57841601 1 57841602 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs10047071 1 57841662 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs3909556 1 57846985 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs269038 1 57847976 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs145519046 1 57848230 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs11805025 1 57850717 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs115947018 1 57851746 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs3896423 1 57851771 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57853509 1 57853510 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs74074978 1 57854265 [T/A] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs486804 1 57858319 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs10493220 1 57858457 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57861001 1 57861002 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57861470 1 57861471 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs114047447 1 57862176 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57862948 1 57862949 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs17425189 1 57862949 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57864308 1 57864309 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs17115750 1 57869430 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57872598 1 57872599 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57874543 1 57874544 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57874844 1 57874845 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57874865 1 57874866 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57874878 1 57874879 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs72909216 1 57875726 [A/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs61769757 1 57875799 [T/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs269062 1 57880555 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs3850557 1 57880615 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57880957 1 57880958 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs189172415 1 57882189 [A/G] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12071132 1 57884383 [G/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent JHU_1.57886353 1 57886354 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs34492687 1 57887088 [T/C] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs7519071 1 57889227 [A/T] NM_001353983,NM_021080,NM_001353986,NM_001353985,NM_001353980 DAB1,DAB1,DAB1,DAB1,DAB1 Silent,Silent,Silent,Silent,Silent rs12739184 1 57890250 [A/G] NM_001353983,NM_021080,NM_001353980 DAB1,DAB1,DAB1 Silent,Silent,Silent rs7523104 1 57892924 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs117339644 1 57893528 [G/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57896816 1 57896817 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57898996 1 57898997 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs145066573 1 57902007 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs80291200 1 57903916 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs114117593 1 57904369 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57904368 1 57904369 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11207036 1 57904853 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs59422555 1 57906476 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2781321 1 57909581 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72676915 1 57910796 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2781322 1 57911657 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57913422 1 57913423 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs186849743 1 57915503 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17460074 1 57916599 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57916899 1 57916900 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4279875 1 57917398 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17426353 1 57917512 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57917837 1 57917838 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs57692106 1 57918471 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs142408084 1 57918536 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17115807 1 57921505 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11207039 1 57923439 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs148199795 1 57932134 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17115834 1 57932931 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2406067 1 57933076 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent exm-rs12407896 1 57933955 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17115845 1 57936049 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs75824783 1 57937770 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs78728168 1 57942015 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs9436131 1 57945943 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs115838839 1 57950968 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs59727725 1 57951588 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs10493225 1 57952908 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs138494267 1 57953564 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57954374 1 57954375 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2691462 1 57954416 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1917339 1 57955970 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent exm2268892 1 57956702 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2691465 1 57956702 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57959179 1 57959180 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57959435 1 57959436 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57959462 1 57959463 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17115884 1 57960505 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6700225 1 57961103 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1341318 1 57962373 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12117185 1 57965114 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57965518 1 57965519 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1341320 1 57966528 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72676931 1 57969679 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs115616889 1 57971129 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2691437 1 57975111 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57983497 1 57983498 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6689292 1 57986892 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57987777 1 57987778 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1357787 1 57992413 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs147128454 1 57993614 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs145537825 1 57995462 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2793626 1 57996397 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57996581 1 57996582 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57999457 1 57999458 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.57999770 1 57999771 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1524713 1 58003131 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2691444 1 58004009 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs77848630 1 58005316 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58006551 1 58006552 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2691447 1 58010227 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1880442 1 58011831 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58012838 1 58012839 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58012880 1 58012881 [A/T] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17115991 1 58018456 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12733015 1 58019733 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72914832 1 58020423 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6687355 1 58021206 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58039293 1 58039294 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17116037 1 58042550 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs116407026 1 58043105 [G/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17469946 1 58043505 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs10493230 1 58050139 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58051156 1 58051157 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs947241 1 58051166 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17116089 1 58051878 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12409420 1 58054635 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11207070 1 58058589 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7555442 1 58062765 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58064867 1 58064868 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7556036 1 58066537 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7528953 1 58068119 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs181725263 1 58068343 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6674849 1 58068428 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58070917 1 58070918 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58077424 1 58077425 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1341322 1 58079143 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4912270 1 58086456 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58093986 1 58093987 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1983454 1 58096379 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58097886 1 58097887 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs75264130 1 58104062 [G/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7531119 1 58104110 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58105494 1 58105495 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58107046 1 58107047 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4484949 1 58111045 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs10889061 1 58121100 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6672391 1 58124563 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs145193694 1 58126145 [G/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7522826 1 58126517 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12085345 1 58126594 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent 1:58130416-G-A 1 58130416 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs150702296 1 58130894 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs74075813 1 58137672 [A/T] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12566928 1 58138896 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4568858 1 58139294 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6682778 1 58141156 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3131754 1 58143696 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58143733 1 58143734 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs74762550 1 58144161 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58160068 1 58160069 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58160303 1 58160304 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3131774 1 58160618 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58163368 1 58163369 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58163479 1 58163480 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12024280 1 58164358 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3131780 1 58170218 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58170549 1 58170550 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58175121 1 58175122 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58176256 1 58176257 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58176321 1 58176322 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58176528 1 58176529 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs716417 1 58178715 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12136964 1 58181165 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1575512 1 58182151 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3118024 1 58186694 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58191897 1 58191898 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3131726 1 58192123 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7354949 1 58194530 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs912360 1 58194733 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58197486 1 58197487 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58197854 1 58197855 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72664610 1 58200541 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs34087633 1 58200583 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3118034 1 58201813 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1886139 1 58202297 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58202821 1 58202822 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4912173 1 58208267 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3118045 1 58209883 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs144931475 1 58210120 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72664617 1 58211291 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58212798 1 58212799 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs10889070 1 58214656 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58215610 1 58215611 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58217443 1 58217444 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs80294771 1 58218261 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72664639 1 58222222 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs115854618 1 58224457 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3131741 1 58227195 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17472345 1 58228412 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1323826 1 58232509 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3118058 1 58234014 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs3131743 1 58234133 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs144585596 1 58240604 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1924267 1 58247772 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1581762 1 58251060 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs79744296 1 58251841 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58255181 1 58255182 [G/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1323836 1 58256909 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2897364 1 58258276 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58261341 1 58261342 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6704346 1 58263621 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12140411 1 58272916 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12024987 1 58274572 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58278634 1 58278635 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs77696297 1 58279063 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs852749 1 58280509 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4912284 1 58285787 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs852766 1 58286508 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs852771 1 58288317 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs706410 1 58292504 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs706411 1 58292621 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs852777 1 58293235 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58298729 1 58298730 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs59139182 1 58299025 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs58535601 1 58308602 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58309369 1 58309370 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58313090 1 58313091 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs76725367 1 58314242 [A/T] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs706412 1 58317833 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs852799 1 58321020 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs852802 1 58323943 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58328089 1 58328090 [A/G] NM_021080,NM_001353980,NR_104362,NR_104363,NR_104364,NR_104365 DAB1,DAB1,DAB1-AS1,DAB1-AS1,DAB1-AS1,DAB1-AS1 Silent,Silent,Silent,Silent,Silent,Silent rs143795026 1 58332990 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58333463 1 58333464 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2038379 1 58336058 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202822 1 58346207 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6670853 1 58352715 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58355570 1 58355571 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202829 1 58355969 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs150627824 1 58361327 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58362318 1 58362319 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs141471661 1 58366970 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6679454 1 58367236 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202844 1 58368541 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent exm2268693 1 58368541 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12116562 1 58371042 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12406340 1 58371727 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202794 1 58372040 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs149457215 1 58372593 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58372608 1 58372609 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1884487 1 58375966 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202802 1 58376247 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs114629321 1 58376627 [G/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs141656769 1 58381604 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12130156 1 58382636 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202816 1 58387711 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs77138707 1 58388241 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202780 1 58394752 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202769 1 58398753 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs75033510 1 58399896 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12035761 1 58401104 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1857380 1 58403623 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58407517 1 58407518 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs75012290 1 58407690 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58408605 1 58408606 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202852 1 58409918 [A/T] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs114558563 1 58411847 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58413348 1 58413349 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1202788 1 58414715 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58416929 1 58416930 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58428013 1 58428014 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72922516 1 58429210 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72922518 1 58430592 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1343635 1 58431135 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72922523 1 58431682 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72666189 1 58431788 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7532719 1 58432755 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17486923 1 58436784 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1187983 1 58441860 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2764669 1 58448771 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58449935 1 58449936 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12073599 1 58452079 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58454435 1 58454436 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58456229 1 58456230 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58457603 1 58457604 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1187988 1 58466016 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58470734 1 58470735 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58470736 1 58470737 [A/T] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1325449 1 58471091 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17116696 1 58472624 [A/T] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58472762 1 58472763 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs78991787 1 58473015 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2802895 1 58473445 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58474637 1 58474638 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs78806199 1 58478275 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs139946683 1 58479117 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17116712 1 58480921 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58481677 1 58481678 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11207153 1 58482029 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1952046 1 58482341 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1325453 1 58488601 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1325454 1 58488751 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1408926 1 58489840 [G/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1325457 1 58491807 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58493833 1 58493834 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs74634416 1 58495244 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58501662 1 58501663 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58501724 1 58501725 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6663542 1 58505378 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs111852999 1 58506689 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4087335 1 58511474 [A/T] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4110981 1 58512049 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs79919912 1 58515668 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58515889 1 58515890 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11808372 1 58519672 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11591081 1 58520500 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11207160 1 58520774 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58521199 1 58521200 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs11207161 1 58521203 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs76952373 1 58522387 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58522845 1 58522846 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58522882 1 58522883 [A/T] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2806404 1 58524115 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17116777 1 58526106 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2764677 1 58526257 [A/T] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2025617 1 58526854 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6657936 1 58528820 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs75090804 1 58529263 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6698482 1 58531627 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58532227 1 58532228 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2764684 1 58537919 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58538654 1 58538655 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs4912298 1 58542038 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs76024522 1 58542136 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58542251 1 58542252 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2764687 1 58544805 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72667932 1 58547510 [A/T] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58548094 1 58548095 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7546050 1 58549370 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58551631 1 58551632 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs873989 1 58556598 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs79303001 1 58557528 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58558997 1 58558998 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs116469189 1 58559510 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58560109 1 58560110 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1320555 1 58561954 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58566297 1 58566298 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12085768 1 58566422 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs10889084 1 58567422 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58568410 1 58568411 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58569359 1 58569360 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1213770 1 58571279 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1935850 1 58574223 [G/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1416347 1 58574925 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1416346 1 58575317 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1342876 1 58578612 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs114988288 1 58580557 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58582837 1 58582838 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58583283 1 58583284 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs115097369 1 58584531 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58585532 1 58585533 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17116983 1 58591848 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17116988 1 58602197 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12046343 1 58603143 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs145381171 1 58603908 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58605343 1 58605344 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6667829 1 58610928 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58611003 1 58611004 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs75247039 1 58611042 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs2806399 1 58617269 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs115755178 1 58622123 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58660801 1 58660802 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7524008 1 58666076 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs7545320 1 58668913 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs572888 1 58674799 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1416342 1 58680391 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs58540462 1 58681608 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs1416345 1 58683554 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58683711 1 58683712 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17117133 1 58685632 [T/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs74077937 1 58686824 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs59776061 1 58687046 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs72667957 1 58688305 [C/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs588183 1 58690262 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58691647 1 58691648 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs17493209 1 58693690 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs79864498 1 58693853 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs569335 1 58695808 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58696986 1 58696987 [A/T] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs80007019 1 58700727 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58701320 1 58701321 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs79321406 1 58702639 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58706766 1 58706767 [A/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58707233 1 58707234 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs182463319 1 58709182 [G/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs6663243 1 58709895 [T/A] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs676022 1 58711227 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs55889715 1 58711961 [T/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs12127582 1 58712500 [G/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58712938 1 58712939 [G/C] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent rs614373 1 58714427 [A/G] NM_021080,NM_001353980 DAB1,DAB1 Silent,Silent JHU_1.58716528 1 58716529 [A/G] JHU_1.58718185 1 58718186 [A/G] rs13375633 1 58721661 [T/C] rs77222875 1 58721909 [C/G] rs75455643 1 58725035 [A/T] rs639241 1 58725716 [A/G] rs555213 1 58726579 [A/G] JHU_1.58729063 1 58729064 [T/C] rs574802 1 58730127 [T/C] rs10493248 1 58730778 [A/G] JHU_1.58733752 1 58733753 [T/G] rs114986702 1 58740723 [A/G] rs17117233 1 58743154 [T/C] rs4912316 1 58743499 [A/G] JHU_1.58744821 1 58744822 [C/G] JHU_1.58745352 1 58745353 [T/C] JHU_1.58745492 1 58745493 [C/G] rs114256514 1 58748612 [A/G] rs11207189 1 58748753 [T/C] exm-rs527409 1 58757915 [T/C] rs6665082 1 58759203 [A/G] rs61781882 1 58762462 [T/C] JHU_1.58763801 1 58763802 [A/G] JHU_1.58766905 1 58766906 [A/G] rs12117062 1 58767429 [A/G] rs143686477 1 58770508 [T/C] rs12066891 1 58773252 [A/G] rs61781884 1 58777571 [A/T] JHU_1.58779490 1 58779491 [A/G] rs7551403 1 58781452 [T/C] rs60665381 1 58782154 [A/G] rs10493242 1 58783763 [T/C] rs10493240 1 58784150 [T/G] rs185015899 1 58784783 [A/G] rs10789060 1 58785095 [T/C] rs72669805 1 58790444 [T/C] rs12726314 1 58792030 [T/C] rs1213640 1 58794017 [A/C] rs1213642 1 58795833 [A/C] JHU_1.58799798 1 58799799 [A/G] JHU_1.58800279 1 58800280 [T/C] JHU_1.58800894 1 58800895 [A/C] JHU_1.58801117 1 58801118 [T/C] JHU_1.58801562 1 58801563 [T/C] rs145355339 1 58801904 [T/C] rs1213646 1 58802060 [T/C] rs34444442 1 58802116 [A/G] rs2211324 1 58802608 [T/C] rs72912380 1 58804396 [T/G] rs12562100 1 58805106 [A/G] rs17117348 1 58805969 [A/G] rs2794651 1 58807475 [T/G] rs11207198 1 58808817 [A/G] JHU_1.58808958 1 58808959 [A/G] rs35813435 1 58809774 [T/C] rs1213655 1 58810670 [A/T] rs12023617 1 58811645 [A/G] rs6686674 1 58811791 [A/G] rs4244014 1 58819774 [T/C] rs1318371 1 58821318 [A/G] rs11207206 1 58824988 [A/G] rs6695605 1 58827079 [A/G] JHU_1.58827968 1 58827969 [A/T] JHU_1.58829655 1 58829656 [T/C] rs12404972 1 58829981 [A/C] rs1213661 1 58830178 [T/C] JHU_1.58832348 1 58832349 [A/G] rs1213664 1 58833588 [T/C] JHU_1.58836047 1 58836048 [T/C] rs12129130 1 58845559 [A/T] rs6664838 1 58849454 [T/C] JHU_1.58853392 1 58853393 [T/C] rs338935 1 58853893 [T/G] exm2252354 1 58855299 [T/C] rs849492 1 58857598 [A/C] rs338934 1 58857666 [A/G] JHU_1.58858406 1 58858407 [T/C] rs849494 1 58859140 [G/C] JHU_1.58862818 1 58862819 [A/G] rs338922 1 58863650 [T/C] JHU_1.58864869 1 58864870 [A/T] JHU_1.58869000 1 58869001 [T/C] rs10465839 1 58872522 [T/C] rs338911 1 58873906 [T/G] rs78409681 1 58874182 [T/C] rs74519353 1 58874225 [T/C] JHU_1.58874853 1 58874854 [A/G] rs849485 1 58875165 [T/G] rs338905 1 58875644 [A/G] rs114608844 1 58877923 [T/G] rs11207224 1 58877966 [T/C] rs60590242 1 58881922 [A/C] JHU_1.58882300 1 58882301 [T/C] rs706416 1 58884192 [A/G] rs706417 1 58885233 [T/C] rs13374069 1 58891824 [T/G] rs75119400 1 58892318 [T/C] rs849469 1 58894050 [T/C] rs72669851 1 58895661 [T/C] rs12062550 1 58895817 [A/G] rs706425 1 58895863 [T/G] JHU_1.58897611 1 58897612 [T/C] rs75192897 1 58900456 [C/G] rs706428 1 58902488 [T/C] rs55835866 1 58906715 [T/G] rs12121678 1 58907747 [A/G] rs706439 1 58908819 [T/C] rs706444 1 58910442 [A/G] rs41370348 1 58910694 [T/C] JHU_1.58910693 1 58910694 [T/C] rs706445 1 58911040 [A/C] JHU_1.58913288 1 58913289 [T/C] rs706449 1 58913469 [A/G] JHU_1.58913535 1 58913536 [A/C] exm2268893 1 58913654 [T/C] exm-rs10889092 1 58915024 [T/C] rs78185994 1 58915766 [A/G] rs849477 1 58915956 [T/C] rs822165 1 58916818 [A/G] rs849479 1 58918842 [A/G] rs706454 1 58919090 [A/G] JHU_1.58920155 1 58920156 [T/C] rs706457 1 58920920 [A/G] rs1000476 1 58921516 [T/C] rs77740907 1 58922012 [T/A] rs697587 1 58923511 [A/G] rs72669872 1 58923574 [T/C] rs12040053 1 58926395 [T/G] JHU_1.58926714 1 58926715 [A/G] rs706464 1 58927242 [A/C] JHU_1.58927784 1 58927785 [T/C] rs338248 1 58931305 [A/C] rs181570117 1 58932088 [T/C] rs697590 1 58933274 [T/C] rs338240 1 58934642 [T/G] rs338231 1 58939531 [A/G] rs12407003 1 58939634 [A/G] rs186746367 1 58941637 [A/G] rs79804389 1 58942724 [G/C] rs72669898 1 58944436 [A/G] rs55928139 1 58945521 [T/C] JHU_1.58946044 1 58946045 [T/C] 1:58946640-AC 1 58946640 [A/C] NM_145243 OMA1 EXON Missense_S524R exm63540 1 58946647 [A/G] NM_145243 OMA1 EXON Missense_T522M exm63542 1 58946710 [A/G] NM_145243 OMA1 EXON Missense_M501T indel.3812 1 58946828 [D/I] NM_145243 OMA1 EXON rs10489815 1 58949510 [A/C] NM_145243 OMA1 Silent rs201662596 1 58950897 [T/C] NM_145243 OMA1 Silent JHU_1.58950900 1 58950901 [T/A] NM_145243 OMA1 Silent JHU_1.58950928 1 58950929 [A/G] NM_145243 OMA1 Silent rs117049127 1 58953533 [A/G] NM_145243 OMA1 Silent rs147317822 1 58962068 [C/G] NM_145243 OMA1 Silent rs12728773 1 58963327 [T/C] NM_145243 OMA1 Silent exm63549 1 58971748 [A/T] NM_145243 OMA1 EXON Missense_D450V 1:58971764-GA 1 58971764 [A/G] NM_145243 OMA1 EXON Nonsense_R445X rs3087585 1 58971831 [A/G] NM_145243 OMA1 EXON Synonymous_F422F rs11581844 1 58974163 [T/C] NM_145243 OMA1 Silent rs114219987 1 58976755 [T/C] NM_145243 OMA1 Silent JHU_1.58976754 1 58976755 [T/C] NM_145243 OMA1 Silent rs6656025 1 58978397 [T/C] NM_145243 OMA1 Silent JHU_1.58980365 1 58980366 [T/C] NM_145243 OMA1 Silent rs72672230 1 58985465 [T/C] NM_145243 OMA1 Silent JHU_1.58985464 1 58985465 [T/C] NM_145243 OMA1 Silent rs2271004 1 58996203 [T/C] NM_145243 OMA1 Silent exm63562 1 58996320 [A/C] NM_145243 OMA1 EXON Missense_D365Y JHU_1.58997389 1 58997390 [T/C] NM_145243 OMA1 Silent JHU_1.58998832 1 58998833 [A/C] NM_145243 OMA1 Silent exm63569 1 58999651 [T/G] NM_145243 OMA1 EXON Missense_I329L rs17117678 1 58999651 [T/G] NM_145243 OMA1 EXON Missense_I329L exm63575 1 58999853 [T/C] NM_145243 OMA1 EXON Missense_I294V exm63576 1 58999882 [T/C] NM_145243 OMA1 EXON Missense_N284S 1:58999910-TC 1 58999910 [T/C] NM_145243 OMA1 EXON Missense_K275E exm63579 1 58999918 [T/C] NM_145243 OMA1 EXON Missense_E272G exm63582 1 58999978 [A/G] NM_145243 OMA1 EXON Missense_M252T variant.3813 1 59000005 [T/C] NM_145243 OMA1 Silent JHU_1.59001411 1 59001412 [T/C] NM_145243 OMA1 Silent exm63585 1 59002200 [T/G] NM_145243 OMA1 EXON Missense_E238D 1:59002259-TC 1 59002259 [T/C] NM_145243 OMA1 EXON Missense_I219V exm63591 1 59002282 [A/C] NM_145243 OMA1 EXON Missense_F211C exm63597 1 59002375 [T/C] NM_145243 OMA1 EXON Missense_K180R 1:59004486-AG 1 59004486 [A/G] NM_145243 OMA1 EXON Missense_F161L exm63610 1 59004602 [A/C] NM_145243 OMA1 EXON Missense_L122W exm63612 1 59004617 [A/G] NM_145243 OMA1 EXON Missense_P117L exm63613 1 59004762 [A/G] NM_145243 OMA1 EXON Missense_H69Y exm63614 1 59004766 [T/G] NM_145243 OMA1 EXON Missense_N67K exm63616 1 59004804 [T/C] NM_145243 OMA1 EXON Missense_V55I 1:59004849-GT 1 59004849 [T/G] NM_145243 OMA1 EXON Missense_Q40K exm63619 1 59004873 [T/C] NM_145243 OMA1 EXON Missense_A32T exm1843394 1 59004894 [A/G] NM_145243 OMA1 EXON Missense_W25R 1:59004898-TAGAC-T 1 59004898 [D/I] NM_145243 OMA1 EXON indel.3819 1 59004965 [I/D] NM_145243 OMA1 EXON 1:59005391-C-G 1 59005391 [C/G] NM_145243 OMA1 Silent JHU_1.59011177 1 59011178 [T/C] NM_145243 OMA1 Silent JHU_1.59012400 1 59012401 [T/C] NM_145243 OMA1 EXON Silent rs60647662 1 59013434 [T/C] rs76609046 1 59017214 [A/C] JHU_1.59019643 1 59019644 [T/C] rs659061 1 59024435 [A/G] rs660632 1 59026593 [G/C] 1:59031767-A-G 1 59031767 [A/G] JHU_1.59032014 1 59032015 [T/G] 1:59036141-G-C 1 59036141 [C/G] rs76473011 1 59039130 [T/C] exm63630 1 59041930 [T/C] NM_002353 TACSTD2 EXON Missense_R300Q exm63631 1 59041940 [T/C] NM_002353 TACSTD2 EXON Missense_I297V 1:59041957-CT 1 59041957 [T/C] NM_002353 TACSTD2 EXON Missense_G291D exm63635 1 59042017 [T/C] NM_002353 TACSTD2 EXON Missense_K271R 1:59042023-GA 1 59042023 [A/G] NM_002353 TACSTD2 EXON Missense_S269F Variant15912 1 59042176 [I/D] NM_002353 TACSTD2 EXON exm63653 1 59042181 [T/G] NM_002353 TACSTD2 EXON Missense_D216E 1:59042265-TG-T 1 59042265 [D/I] NM_002353 TACSTD2 EXON 1:59042306-CT 1 59042306 [T/C] NM_002353 TACSTD2 EXON Missense_E175K 1:59042391-AC 1 59042391 [A/C] NM_002353 TACSTD2 EXON Missense_D146E exm63665 1 59042425 [A/C] NM_002353 TACSTD2 EXON Missense_R135L 1:59042474-T-A 1 59042474 [T/A] NM_002353 TACSTD2 EXON Missense_C119S 1:59042528-CA 1 59042528 [A/C] NM_002353 TACSTD2 EXON Missense_D101Y 1:59042680-CT 1 59042680 [T/C] NM_002353 TACSTD2 EXON Missense_G50D rs137967395 1 59044032 [A/G] rs79922149 1 59045292 [A/G] 1:59046359-C-A 1 59046359 [A/C] rs232828 1 59047175 [T/C] JHU_1.59051785 1 59051786 [G/C] rs17117889 1 59055724 [A/G] rs12756352 1 59056198 [T/G] rs6664314 1 59056326 [T/C] rs6587830 1 59057933 [T/C] rs72674187 1 59061357 [A/G] rs12057137 1 59062836 [T/C] rs7555371 1 59063041 [T/C] rs232797 1 59064617 [A/G] JHU_1.59071823 1 59071824 [A/G] rs12745094 1 59075102 [T/C] rs232812 1 59079248 [T/C] rs232813 1 59079359 [A/G] rs150011915 1 59081378 [T/C] rs170827 1 59081533 [T/G] rs150086217 1 59084049 [C/G] rs2073094 1 59086221 [T/C] rs232772 1 59091184 [T/C] rs75977733 1 59094480 [T/G] JHU_1.59096349 1 59096350 [T/C] JHU_1.59096649 1 59096650 [A/G] rs232915 1 59098228 [T/C] rs12130790 1 59104431 [A/C] JHU_1.59106551 1 59106552 [A/G] rs114834953 1 59106818 [A/G] JHU_1.59109323 1 59109324 [T/C] rs232893 1 59109669 [A/G] JHU_1.59109668 1 59109669 [A/G] rs151197456 1 59111123 [T/A] JHU_1.59111798 1 59111799 [A/G] rs11207282 1 59114438 [A/G] JHU_1.59116136 1 59116137 [T/G] JHU_1.59117109 1 59117110 [T/G] rs138395334 1 59118325 [A/C] JHU_1.59119119 1 59119120 [A/G] JHU_1.59119142 1 59119143 [A/G] rs41287656 1 59120866 [T/C] NM_001085487 MYSM1 EXON Silent rs232851 1 59122871 [T/C] NM_001085487 MYSM1 EXON Silent rs74500630 1 59123633 [T/C] NM_001085487 MYSM1 EXON Silent rs12737926 1 59125515 [T/C] NM_001085487 MYSM1 EXON Silent exm63675 1 59125683 [T/C] NM_001085487 MYSM1 EXON Missense_E825K 1:59125704-TC 1 59125704 [T/C] NM_001085487 MYSM1 EXON Missense_T818A 1:59125724-CA 1 59125724 [A/C] NM_001085487 MYSM1 EXON Missense_S811I 1:59126874-GA 1 59126874 [A/G] NM_001085487 MYSM1 EXON Missense_R766C 1:59126891-GA 1 59126891 [A/G] NM_001085487 MYSM1 EXON Missense_P760L rs7523134 1 59127086 [A/G] NM_001085487 MYSM1 EXON Synonymous_L754L JHU_1.59131087 1 59131088 [A/G] NM_001085487 MYSM1 Silent exm63687 1 59131171 [A/G] NM_001085487 MYSM1 EXON Missense_R722C rs232790 1 59131311 [T/G] NM_001085487 MYSM1 Silent variant.3822 1 59132739 [A/G] NM_001085487 MYSM1 EXON Nonsense_R668X exm63705 1 59134708 [A/G] NM_001085487 MYSM1 EXON Missense_S555L JHU_1.59136445 1 59136446 [T/A] NM_001085487 MYSM1 Silent rs678283 1 59137456 [T/C] NM_001085487 MYSM1 Silent variant.3823 1 59142596 [A/G] NM_001085487 MYSM1 Silent exm63718 1 59142603 [C/G] NM_001085487 MYSM1 EXON Missense_G462A JHU_1.59143334 1 59143335 [T/C] NM_001085487 MYSM1 Silent JHU_1.59146220 1 59146221 [A/G] NM_001085487 MYSM1 Silent exm63726 1 59147497 [C/G] NM_001085487 MYSM1 EXON Missense_E407Q exm63727 1 59147514 [T/C] NM_001085487 MYSM1 EXON Missense_R401H exm63739 1 59147799 [T/G] NM_001085487 MYSM1 EXON Missense_K306T JHU_1.59147798 1 59147799 [T/G] NM_001085487 MYSM1 EXON Missense_K306T indel.3824 1 59147811 [I/D] NM_001085487 MYSM1 EXON exm63742 1 59147851 [A/G] NM_001085487 MYSM1 EXON Missense_L289F exm63744 1 59147926 [T/C] NM_001085487 MYSM1 EXON Missense_T264A rs12139511 1 59147926 [T/C] NM_001085487 MYSM1 EXON Missense_T264A exm63747 1 59147962 [T/G] NM_001085487 MYSM1 EXON Missense_S252R exm63749 1 59148002 [A/C] NM_001085487 MYSM1 EXON Missense_Q238H exm63753 1 59148118 [T/A] NM_001085487 MYSM1 EXON Missense_C200S exm63755 1 59148136 [T/C] NM_001085487 MYSM1 EXON Missense_K194E 1:59148208-CT 1 59148208 [T/C] NM_001085487 MYSM1 EXON Missense_G170S var_1_59150911 1 59150911 [A/G] NM_001085487 MYSM1 EXON Nonsense_R138X JHU_1.59150940 1 59150941 [A/G] NM_001085487 MYSM1 Silent 1:59156031-CA 1 59156031 [A/C] NM_001085487 MYSM1 EXON Missense_D93Y 1:59156070-AG 1 59156070 [A/G] NM_001085487 MYSM1 EXON Missense_S80P exm63770 1 59156090 [T/C] NM_001085487 MYSM1 Silent rs143921804 1 59158122 [T/C] NM_001085487 MYSM1 Silent variant.3828 1 59158533 [T/C] NM_001085487 MYSM1 EXON Missense_E73G JHU_1.59160734 1 59160735 [A/G] NM_001085487 MYSM1 Silent 1:59160874-CT 1 59160874 [T/C] NM_001085487 MYSM1 EXON Missense_G25D JHU_1.59161578 1 59161579 [T/C] NM_001085487 MYSM1 Silent exm-rs2811893 1 59162148 [T/C] NM_001085487 MYSM1 Silent JHU_1.59173613 1 59173614 [A/G] rs4912202 1 59174026 [A/G] rs7530611 1 59174740 [T/G] rs12073211 1 59175142 [T/C] JHU_1.59180397 1 59180398 [A/G] rs145581979 1 59180577 [A/G] rs143647632 1 59183499 [A/G] rs2760493 1 59184983 [T/C] rs11583201 1 59186777 [A/G] JHU_1.59186839 1 59186840 [T/G] JHU_1.59190997 1 59190998 [T/G] JHU_1.59192417 1 59192418 [A/G] JHU_1.59197969 1 59197970 [A/G] rs7520440 1 59201428 [T/C] rs1969772 1 59205102 [A/G] rs79428576 1 59207485 [T/G] JHU_1.59207484 1 59207485 [T/G] rs12137541 1 59209416 [A/G] rs150510403 1 59212522 [T/C] rs77253236 1 59212594 [T/C] rs2811876 1 59215791 [A/G] rs113486057 1 59217584 [T/C] rs75426281 1 59219893 [A/C] rs10889118 1 59221647 [T/C] JHU_1.59222131 1 59222132 [G/C] rs2811880 1 59225047 [A/G] rs2811883 1 59230228 [T/C] rs1570481 1 59230951 [A/C] rs1007271 1 59231160 [A/G] JHU_1.59232529 1 59232530 [T/C] JHU_1.59235545 1 59235546 [T/C] JHU_1.59237348 1 59237349 [T/G] JHU_1.59239480 1 59239481 [A/G] rs34938302 1 59240813 [A/G] rs1980700 1 59244792 [A/G] JHU_1.59244918 1 59244919 [A/G] rs1323287 1 59245987 [T/C] rs377289876 1 59248085 [G/C] NM_002228 JUN EXON Missense_P220A 1:59248090-TC 1 59248090 [T/C] NM_002228 JUN EXON Missense_Q218R 1:59248615-GA 1 59248615 [A/G] NM_002228 JUN EXON Missense_A43V 1KG_1_59248649 1 59248649 [D/I] NM_002228 JUN EXON 1:59248735-GA 1 59248735 [A/G] NM_002228 JUN EXON Missense_A3V rs4647012 1 59248806 [T/C] NM_002228 JUN EXON Silent rs3748814 1 59249568 [A/G] NM_002228 JUN EXON Silent 1:59250452-A-G 1 59250452 [A/G] exm2268894 1 59251097 [T/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs10158600 1 59251977 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs57263270 1 59252533 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs2984915 1 59253695 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs79139897 1 59254313 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs11207306 1 59258879 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs2811839 1 59269038 [A/T] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs1923943 1 59275576 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs12088136 1 59275802 [T/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs2999134 1 59277926 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs72911552 1 59280678 [G/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs12097718 1 59280723 [A/T] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs3015319 1 59285475 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs141530680 1 59286963 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs151235118 1 59294144 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent JHU_1.59296636 1 59296637 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs72915510 1 59299584 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs1815274 1 59301218 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent JHU_1.59304766 1 59304767 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs942124 1 59304910 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent JHU_1.59314595 1 59314596 [A/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent JHU_1.59315201 1 59315202 [A/T] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs2811853 1 59317873 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs17356414 1 59319508 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs61788405 1 59319659 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs9436174 1 59321745 [A/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs72678865 1 59324119 [A/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent JHU_1.59324118 1 59324119 [A/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs148108066 1 59324620 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs114788964 1 59324847 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent JHU_1.59325504 1 59325505 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent exm-rs4601609 1 59325626 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs12038856 1 59326496 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs74718384 1 59326604 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs12140615 1 59330272 [A/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs12133457 1 59330763 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent JHU_1.59331423 1 59331424 [T/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent JHU_1.59334510 1 59334511 [A/T] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs117925545 1 59345021 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent JHU_1.59345945 1 59345946 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs1998762 1 59347010 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs78335363 1 59348381 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs12239208 1 59349570 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs145440290 1 59349805 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs2716107 1 59353441 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent JHU_1.59354095 1 59354096 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs78221887 1 59354854 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs12117564 1 59355900 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent rs75209837 1 59356201 [A/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent JHU_1.59357983 1 59357984 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent 1:59359293-GA 1 59359293 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 EXON Silent,Silent,Silent 1:59359351-CA 1 59359351 [A/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 EXON Silent,Silent,Silent rs2999129 1 59361652 [C/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 Silent,Silent,Silent 1:59364719-TC 1 59364719 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 EXON Silent,Silent,Silent 1:59364832-CT 1 59364832 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 EXON Silent,Silent,Silent 1:59364836-CT 1 59364836 [T/C] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 EXON Silent,Silent,Silent rs6658104 1 59364918 [A/G] NR_034015,NR_034014,NR_108106 LINC01135,LINC01135,LINC01135 EXON Silent,Silent,Silent exm2268695 1 59368947 [T/G] JHU_1.59371972 1 59371973 [T/C] rs2716105 1 59372464 [T/C] rs6684065 1 59377253 [A/G] rs17096897 1 59379043 [A/G] rs13375549 1 59384033 [A/G] rs113136787 1 59385705 [T/C] JHU_1.59389952 1 59389953 [A/G] JHU_1.59392955 1 59392956 [T/C] JHU_1.59394338 1 59394339 [A/C] rs11806596 1 59395501 [G/C] rs2764914 1 59395523 [A/G] rs6664131 1 59396262 [A/C] rs55834295 1 59397098 [T/C] JHU_1.59397110 1 59397111 [T/G] JHU_1.59404378 1 59404379 [T/C] rs114441298 1 59415448 [A/T] rs2716163 1 59420301 [T/C] JHU_1.59420742 1 59420743 [T/C] rs3949912 1 59423103 [A/G] rs78914310 1 59430011 [A/G] rs2764933 1 59435778 [T/C] rs2716128 1 59438203 [A/G] JHU_1.59441675 1 59441676 [T/C] rs79352689 1 59441848 [A/C] rs56285943 1 59442083 [T/C] JHU_1.59445378 1 59445379 [A/G] JHU_1.59456988 1 59456989 [C/G] JHU_1.59457662 1 59457663 [T/C] rs150003914 1 59458259 [T/G] rs2764900 1 59466192 [A/G] rs17118519 1 59467670 [T/C] rs11207367 1 59470439 [A/G] rs1812402 1 59474027 [T/C] rs2716121 1 59474554 [T/C] rs141885619 1 59474602 [T/C] kgp8277711 1 59478801 [A/G] JHU_1.59481186 1 59481187 [T/C] JHU_1.59483090 1 59483091 [C/G] rs17464532 1 59483091 [C/G] JHU_1.59483145 1 59483146 [A/G] JHU_1.59487869 1 59487870 [A/G] NR_110626 LINC01358 Silent JHU_1.59488022 1 59488023 [A/G] NR_110626 LINC01358 Silent JHU_1.59488771 1 59488772 [T/G] NR_110626 LINC01358 Silent JHU_1.59488973 1 59488974 [A/G] NR_110626 LINC01358 Silent rs9436589 1 59489531 [A/C] NR_110626 LINC01358 Silent rs12565088 1 59495834 [T/C] NR_110626 LINC01358 Silent JHU_1.59496111 1 59496112 [T/C] NR_110626 LINC01358 Silent rs72923536 1 59499606 [T/C] NR_110626 LINC01358 Silent rs7530597 1 59505849 [C/G] NR_110626 LINC01358 Silent rs58821360 1 59511594 [G/C] NR_110626 LINC01358 Silent rs76671901 1 59522957 [A/G] NR_110626 LINC01358 Silent rs6687397 1 59526466 [A/G] NR_110626 LINC01358 Silent JHU_1.59528346 1 59528347 [A/G] NR_110626 LINC01358 Silent JHU_1.59530716 1 59530717 [T/C] NR_110626 LINC01358 Silent rs12733019 1 59531321 [A/G] NR_110626 LINC01358 Silent rs12562835 1 59533703 [A/G] NR_110626 LINC01358 Silent rs4128414 1 59533996 [A/C] NR_110626 LINC01358 Silent rs7536474 1 59537214 [A/G] NR_110626 LINC01358 Silent rs4428913 1 59539095 [A/G] NR_110626 LINC01358 Silent rs4424536 1 59544435 [A/G] NR_110626 LINC01358 Silent rs72680151 1 59548231 [G/C] NR_110626 LINC01358 Silent rs61545203 1 59551207 [A/C] NR_110626 LINC01358 Silent rs114480503 1 59562349 [A/G] JHU_1.59565117 1 59565118 [T/C] JHU_1.59567205 1 59567206 [T/C] rs3010323 1 59567263 [T/C] rs3010325 1 59569829 [T/C] rs1114505 1 59572316 [T/C] JHU_1.59576026 1 59576027 [T/C] JHU_1.59576091 1 59576092 [A/G] rs17118768 1 59576766 [T/C] rs7527296 1 59578357 [T/G] rs17118779 1 59578454 [T/C] rs1331746 1 59578785 [T/C] rs115077861 1 59578954 [T/G] rs2985503 1 59579115 [C/G] 1:59579504-C-T 1 59579504 [T/C] rs79612102 1 59580259 [T/C] rs72680163 1 59581069 [A/G] JHU_1.59582711 1 59582712 [T/C] JHU_1.59583653 1 59583654 [T/A] rs2985500 1 59588984 [T/C] rs3010331 1 59595215 [A/G] JHU_1.59595543 1 59595544 [T/C] rs182816 1 59601907 [T/C] NR_027120 HSD52 Silent rs4912389 1 59603757 [A/G] NR_027120 HSD52 Silent rs74961451 1 59608141 [T/C] NR_027120 HSD52 Silent rs79178560 1 59609735 [T/C] NR_027120 HSD52 Silent rs17118875 1 59614192 [T/C] rs474103 1 59619571 [T/G] rs76764039 1 59619638 [T/A] rs17118917 1 59623170 [A/G] rs615743 1 59623181 [T/G] JHU_1.59628619 1 59628620 [A/G] JHU_1.59629521 1 59629522 [A/G] rs74930084 1 59629709 [T/C] rs12139438 1 59630555 [T/C] JHU_1.59633591 1 59633592 [A/G] JHU_1.59635513 1 59635514 [T/G] rs658956 1 59635526 [T/G] JHU_1.59635525 1 59635526 [T/G] rs3850542 1 59635870 [A/C] rs114407373 1 59636522 [T/G] rs11207416 1 59642102 [A/G] 1:59644434-C-T 1 59644434 [T/C] rs17535443 1 59646056 [A/G] rs17119022 1 59646061 [T/C] rs78147819 1 59647051 [T/C] JHU_1.59649950 1 59649951 [C/G] rs3850543 1 59653630 [A/G] rs17535722 1 59653892 [T/G] rs12753566 1 59654019 [T/C] rs116154133 1 59654586 [A/G] rs17119044 1 59655643 [A/C] rs72680199 1 59659699 [A/G] rs17119061 1 59660903 [A/C] JHU_1.59661108 1 59661109 [A/G] rs79565335 1 59663994 [T/C] rs331635 1 59665542 [A/G] rs10493258 1 59665770 [A/G] rs12758288 1 59669708 [T/C] JHU_1.59676815 1 59676816 [T/A] rs331633 1 59680579 [A/G] rs189065781 1 59682786 [A/G] rs145899573 1 59687341 [A/G] JHU_1.59691623 1 59691624 [A/G] JHU_1.59691980 1 59691981 [A/G] rs7540474 1 59693470 [T/G] rs117780276 1 59695894 [A/G] rs76888583 1 59697263 [C/G] JHU_1.59697453 1 59697454 [A/T] rs1037038 1 59698062 [A/C] rs12128328 1 59700800 [T/C] JHU_1.59700799 1 59700800 [T/C] rs6700125 1 59702797 [T/C] rs6703534 1 59703738 [T/C] rs7547161 1 59704822 [A/G] rs17119139 1 59707863 [T/G] rs17537245 1 59707916 [T/C] rs6683082 1 59708325 [A/G] JHU_1.59712617 1 59712618 [A/G] rs1470407 1 59714992 [T/C] rs11207432 1 59715273 [A/G] rs12743706 1 59716008 [A/C] JHU_1.59724114 1 59724115 [G/C] rs12746457 1 59727151 [T/G] rs149559320 1 59730809 [T/C] rs17119199 1 59731352 [T/C] exm2252401 1 59734367 [T/C] rs183018965 1 59736225 [A/G] rs144399195 1 59740973 [T/C] rs333661 1 59744841 [T/C] rs187573120 1 59745563 [T/C] JHU_1.59747786 1 59747787 [T/G] rs74449599 1 59747787 [T/G] JHU_1.59748406 1 59748407 [T/C] JHU_1.59748412 1 59748413 [A/C] rs863123 1 59754855 [T/C] rs7521970 1 59756222 [T/C] rs835365 1 59757049 [T/C] JHU_1.59757224 1 59757225 [T/C] rs835367 1 59762468 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797 FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent rs76998023 1 59762787 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:59766664-T-C 1 59766664 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs140051276 1 59771512 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs146047982 1 59776351 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59778749 1 59778750 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59779946 1 59779947 [T/A] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17119234 1 59780323 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs835401 1 59782017 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59786415 1 59786416 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63817 1 59787270 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent,Missense_V17I,Missense_V17I,Missense_V17I,Silent,Silent,Missense_V17I,Missense_V17I,Silent,Missense_V17I,Missense_V17I 1:59787316-TC 1 59787316 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent,Missense_V32A,Missense_V32A,Missense_V32A,Silent,Silent,Missense_V32A,Missense_V32A,Silent,Missense_V32A,Missense_V32A exm63819 1 59787350 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent,Missense_N43K,Missense_N43K,Missense_N43K,Silent,Silent,Missense_N43K,Missense_N43K,Silent,Missense_N43K,Missense_N43K 1:59787400-CT 1 59787400 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent,Missense_A60V,Missense_A60V,Missense_A60V,Silent,Silent,Missense_A60V,Missense_A60V,Silent,Missense_A60V,Missense_A60V exm63821 1 59787409 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent,Missense_C63S,Missense_C63S,Missense_C63S,Silent,Silent,Missense_C63S,Missense_C63S,Silent,Missense_C63S,Missense_C63S exm63822 1 59787414 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Silent,Silent,Silent,Missense_V65I,Missense_V65I,Missense_V65I,Silent,Silent,Missense_V65I,Missense_V65I,Silent,Missense_V65I,Missense_V65I variant.3833 1 59787423 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34255741 1 59788373 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59788856 1 59788857 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76124687 1 59789563 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12567497 1 59791528 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9787234 1 59796808 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs17119280 1 59799161 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59799681 1 59799682 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116587353 1 59801442 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs147548205 1 59803938 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:59805630-AG 1 59805630 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_K12E,Silent,Silent,Silent,Missense_K68E,Silent,Missense_K68E,Silent,Missense_K12E,Silent,Missense_K68E,Silent,Missense_K68E,Missense_K68E 1:59805685-CT 1 59805685 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_T30M,Silent,Silent,Missense_R3C,Missense_T86M,Silent,Missense_T86M,Silent,Missense_T30M,Silent,Missense_T86M,Silent,Missense_T86M,Missense_T86M rs76255088 1 59810334 [A/T] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.3834 1 59811930 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Nonsense_R53X,Silent,Silent,Silent,Nonsense_R109X,Silent,Nonsense_R109X,Silent,Nonsense_R53X,Silent,Nonsense_R109X,Silent,Nonsense_R109X,Nonsense_R109X 1:59811999-AG 1 59811999 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_S76G,Missense_S20G,Missense_S20G,Silent,Missense_S132G,Silent,Missense_S132G,Silent,Missense_S76G,Silent,Missense_S132G,Missense_S20G,Missense_S132G,Missense_S132G chr1_59812016 1 59812016 [D/I] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Variant37978 1 59812016 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Synonymous_V81V,Synonymous_V25V,Synonymous_V25V,Silent,Synonymous_V137V,Silent,Synonymous_V137V,Silent,Synonymous_V81V,Silent,Synonymous_V137V,Synonymous_V25V,Synonymous_V137V,Synonymous_V137V rs835361 1 59814228 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59815582 1 59815583 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59815592 1 59815593 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs835439 1 59826416 [A/T] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74766265 1 59828156 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59828615 1 59828616 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7539697 1 59832762 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59841173 1 59841174 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs949827 1 59841785 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2233644 1 59844449 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_A109V,Missense_A53V,Missense_A53V,Missense_A31V,Missense_A165V,Missense_A77V,Missense_A165V,Silent,Missense_A109V,Missense_A77V,Missense_A165V,Missense_A53V,Missense_A165V,Missense_A165V exm63835 1 59844459 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_F112L,Missense_F56L,Missense_F56L,Missense_F34L,Missense_F168L,Missense_F80L,Missense_F168L,Silent,Missense_F112L,Missense_F80L,Missense_F168L,Missense_F56L,Missense_F168L,Missense_F168L exm63839 1 59844503 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_T127R,Missense_T71R,Missense_T71R,Missense_T49R,Missense_T183R,Missense_T95R,Missense_T183R,Silent,Missense_T127R,Missense_T95R,Missense_T183R,Missense_T71R,Missense_T183R,Missense_T183R JHU_1.59847342 1 59847343 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77320245 1 59850220 [A/T] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6697879 1 59851731 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs61788355 1 59851994 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7534016 1 59853319 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76391865 1 59856029 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74087424 1 59858817 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs835426 1 59860445 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17481692 1 59860819 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs628177 1 59869604 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17119406 1 59869751 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17481982 1 59870490 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs581975 1 59872949 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59873248 1 59873249 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59875262 1 59875263 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11576871 1 59875451 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59877883 1 59877884 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs139943323 1 59880763 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59882736 1 59882737 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59887150 1 59887151 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59888546 1 59888547 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59890408 1 59890409 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59890453 1 59890454 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59890608 1 59890609 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7520470 1 59891821 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs946574 1 59892655 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1416788 1 59894323 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77592977 1 59898565 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17119450 1 59898672 [T/A] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59900718 1 59900719 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4912396 1 59901944 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11207448 1 59904180 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79459022 1 59904851 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59911807 1 59911808 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:59912750-G-A 1 59912750 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2177072 1 59913542 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59917229 1 59917230 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59918081 1 59918082 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs189859366 1 59918088 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63845 1 59922649 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_V135M,Missense_V79M,Missense_V79M,Missense_V57M,Missense_V191M,Missense_V103M,Missense_V191M,Silent,Missense_V135M,Missense_V103M,Missense_V191M,Missense_V79M,Missense_V191M,Missense_V191M 1:59922670-GT 1 59922670 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_A142S,Missense_A86S,Missense_A86S,Missense_A64S,Missense_A198S,Missense_A110S,Missense_A198S,Silent,Missense_A142S,Missense_A110S,Missense_A198S,Missense_A86S,Missense_A198S,Missense_A198S var_1_59922715 1 59922715 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Nonsense_E157X,Nonsense_E101X,Nonsense_E101X,Nonsense_E79X,Nonsense_E213X,Nonsense_E125X,Nonsense_E213X,Silent,Nonsense_E157X,Nonsense_E125X,Nonsense_E213X,Nonsense_E101X,Nonsense_E213X,Nonsense_E213X rs12039820 1 59922771 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12046441 1 59925666 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7550493 1 59936154 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs61790001 1 59936155 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2407515 1 59936406 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.59939436 1 59939437 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs57543249 1 59940151 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6663897 1 59940664 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs626733 1 59946350 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs612292 1 59946544 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1188236 1 59951705 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12145241 1 59952255 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12041220 1 59963960 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11808336 1 59964314 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs592484 1 59969263 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72666218 1 59973658 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:59978024-CT 1 59978024 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_L182F,Missense_L126F,Missense_L126F,Missense_L104F,Missense_L238F,Missense_L150F,Missense_L238F,Silent,Missense_L182F,Missense_L150F,Missense_L238F,Missense_L126F,Missense_L238F,Missense_L238F exm63851 1 59978048 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_L190V,Missense_L134V,Missense_L134V,Missense_L112V,Missense_L246V,Missense_L158V,Missense_L246V,Silent,Missense_L190V,Missense_L158V,Missense_L246V,Missense_L134V,Missense_L246V,Missense_L246V exm63852 1 59978070 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_A197V,Missense_A141V,Missense_A141V,Missense_A119V,Missense_A253V,Missense_A165V,Missense_A253V,Silent,Missense_A197V,Missense_A165V,Missense_A253V,Missense_A141V,Missense_A253V,Missense_A253V 1:59984368-G-C 1 59984368 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs184180505 1 59986536 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12096521 1 59987336 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115014884 1 59990666 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6692151 1 59992986 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75329078 1 59994056 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs78562890 1 59997968 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60005015 1 60005016 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7527689 1 60006785 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11811141 1 60007658 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs140871167 1 60011853 [A/T] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs145259284 1 60013226 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60013886 1 60013887 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2272052 1 60019782 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63856 1 60019796 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_G211V,Missense_G155V,Missense_G155V,Missense_G133V,Missense_G267V,Missense_G179V,Missense_G267V,Silent,Missense_G211V,Missense_G179V,Missense_G267V,Missense_G155V,Missense_G267V,Missense_G267V,Silent exm63860 1 60019853 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_T230M,Missense_T174M,Missense_T174M,Missense_T152M,Missense_T286M,Missense_T198M,Missense_T286M,Silent,Missense_T230M,Missense_T198M,Missense_T286M,Missense_T174M,Missense_T286M,Missense_T286M,Silent exm63866 1 60019898 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_G245V,Missense_G189V,Missense_G189V,Missense_G167V,Missense_G301V,Missense_G213V,Missense_G301V,Silent,Missense_G245V,Missense_G213V,Missense_G301V,Missense_G189V,Missense_G301V,Missense_G301V,Missense_G2V exm63867 1 60019899 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Synonymous_G245G,Synonymous_G189G,Synonymous_G189G,Synonymous_G167G,Synonymous_G301G,Synonymous_G213G,Synonymous_G301G,Silent,Synonymous_G245G,Synonymous_G213G,Synonymous_G301G,Synonymous_G189G,Synonymous_G301G,Synonymous_G301G,Synonymous_G2G rs7555570 1 60020918 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60021726 1 60021727 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1440575 1 60023941 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60027788 1 60027789 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs148919339 1 60032117 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60036092 1 60036093 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1539597 1 60043924 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60046726 1 60046727 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60058661 1 60058662 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60060075 1 60060076 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79930825 1 60060076 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs117182089 1 60064365 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12740006 1 60065474 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79413219 1 60066289 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60066461 1 60066462 [T/A] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72919615 1 60067090 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12728103 1 60068872 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63871 1 60073550 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_N271H,Missense_N215H,Missense_N215H,Missense_N193H,Missense_N327H,Missense_N239H,Missense_N327H,Silent,Missense_N271H,Missense_N239H,Missense_N327H,Missense_N215H,Missense_N327H,Missense_N327H,Missense_N28H exm63872 1 60073563 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_Q275R,Missense_Q219R,Missense_Q219R,Missense_Q197R,Missense_Q331R,Missense_Q243R,Missense_Q331R,Silent,Missense_Q275R,Missense_Q243R,Missense_Q331R,Missense_Q219R,Missense_Q331R,Missense_Q331R,Missense_Q32R variant.3837 1 60073583 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_60073587 1 60073587 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60073697 1 60073698 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs147204493 1 60075263 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs12727131 1 60084516 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs61788913 1 60091168 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63876 1 60091687 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_A291S,Missense_A235S,Missense_A235S,Missense_A213S,Missense_A347S,Missense_A259S,Missense_A347S,Silent,Missense_A291S,Missense_A259S,Missense_A347S,Missense_A235S,Missense_A347S,Missense_A347S,Missense_A48S JHU_1.60096051 1 60096052 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6690357 1 60099282 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7524379 1 60100662 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm63880 1 60103910 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_I306V,Missense_I250V,Missense_I250V,Missense_I228V,Missense_I362V,Missense_I274V,Missense_I362V,Silent,Missense_I306V,Missense_I274V,Missense_I362V,Missense_I250V,Missense_I362V,Missense_I362V,Missense_I63V exm63882 1 60103931 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_H313N,Missense_H257N,Missense_H257N,Missense_H235N,Missense_H369N,Missense_H281N,Missense_H369N,Silent,Missense_H313N,Missense_H281N,Missense_H369N,Missense_H257N,Missense_H369N,Missense_H369N,Missense_H70N exm1845285 1 60103965 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_G324D,Missense_G268D,Missense_G268D,Missense_G246D,Missense_G380D,Missense_G292D,Missense_G380D,Silent,Missense_G324D,Missense_G292D,Missense_G380D,Missense_G268D,Missense_G380D,Missense_G380D,Missense_G81D exm63887 1 60104049 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1KG_1_60106962 1 60106962 [I/D] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON 1:60106963-GATATCTGT-G 1 60106963 [I/D] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON 1:60106989-CT 1 60106989 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Silent,Missense_A308V,Silent,Silent,Silent,Missense_A332V,Missense_A420V,Silent,Silent,Silent,Silent,Silent,Missense_A420V,Silent,Silent rs77983716 1 60110722 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60121427 1 60121428 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12039032 1 60122173 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs59785327 1 60126451 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7540838 1 60128805 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72666271 1 60132351 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:60132961-AG 1 60132961 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_T379A,Missense_T347A,Missense_T323A,Missense_T301A,Missense_T435A,Missense_T371A,Missense_T459A,Silent,Missense_T379A,Missense_T347A,Missense_T435A,Missense_T323A,Missense_T459A,Missense_T435A,Missense_T136A 1:60133039-AG 1 60133039 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_N405D,Missense_N373D,Missense_N349D,Missense_N327D,Missense_N461D,Missense_N397D,Missense_N485D,Silent,Missense_N405D,Missense_N373D,Missense_N461D,Missense_N349D,Missense_N485D,Missense_N461D,Missense_N162D newrs115318188 1 60133075 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_G417S,Missense_G385R,Missense_G361S,Missense_G339S,Missense_G473S,Missense_G409S,Missense_G497S,Silent,Missense_G417S,Missense_G385S,Missense_G473S,Missense_G361R,Missense_G497S,Missense_G473R,Missense_G174S 1:60139726-TC 1 60139726 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_L422P,Silent,Missense_L366P,Missense_L344P,Missense_L478P,Missense_L414P,Missense_L502P,Silent,Missense_L422P,Missense_L390P,Missense_L478P,Silent,Missense_L502P,Silent,Missense_L179P 1:60139761-GA 1 60139761 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_A434T,Silent,Missense_A378T,Missense_A356T,Missense_A490T,Missense_A426T,Missense_A514T,Silent,Missense_A434T,Missense_A402T,Missense_A490T,Silent,Missense_A514T,Silent,Missense_A191T exm63915 1 60139794 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_A445T,Silent,Missense_A389T,Missense_A367T,Missense_A501T,Missense_A437T,Missense_A525T,Silent,Missense_A445T,Missense_A413T,Missense_A501T,Silent,Missense_A525T,Silent,Missense_A202T rs4578243 1 60140439 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10889149 1 60146596 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4912219 1 60146753 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60146996 1 60146997 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs146282960 1 60147351 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116074277 1 60147828 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2252414 1 60152685 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12732614 1 60157178 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4357555 1 60161256 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76818255 1 60162451 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4244022 1 60164209 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NR_103473,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12130316 1 60165224 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs41287706 1 60165348 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs114706541 1 60167481 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs117364185 1 60167899 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76524780 1 60168872 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60169657 1 60169658 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60169921 1 60169922 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6685309 1 60173734 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:60178324-C-A 1 60178324 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79097706 1 60182642 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10889155 1 60183211 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1933213 1 60183673 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60185959 1 60185960 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs78216906 1 60186608 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72668010 1 60187588 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1933211 1 60188326 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60196148 1 60196149 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74548911 1 60196367 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60197959 1 60197960 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60198237 1 60198238 [A/T] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60199145 1 60199146 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9436185 1 60199591 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76718890 1 60200613 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34409477 1 60200871 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6587869 1 60200965 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2897708 1 60201195 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79342004 1 60203937 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60206752 1 60206753 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60208463 1 60208464 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1004772 1 60210649 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2268895 1 60211466 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60211541 1 60211542 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76808095 1 60212879 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60212920 1 60212921 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.60213427 1 60213428 [C/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2179662 1 60213519 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9726956 1 60215711 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79233693 1 60220060 [T/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74758627 1 60222704 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs148804523 1 60222768 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34420078 1 60225860 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12028595 1 60226068 [G/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs654165 1 60226496 [A/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34168375 1 60227517 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs41478449 1 60227628 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2006964 1 60227980 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.3843 1 60228227 [D/I] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON 1:60228237-CT 1 60228237 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_A490V,Silent,Missense_A434V,Missense_A412V,Missense_A546V,Missense_A482V,Missense_A570V,Missense_A490V,Missense_A458V,Missense_A546V,Silent,Missense_A570V,Silent,Missense_A247V exm63922 1 60228246 [A/G] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_N493S,Silent,Missense_N437S,Missense_N415S,Missense_N549S,Missense_N485S,Missense_N573S,Missense_N493S,Missense_N461S,Missense_N549S,Silent,Missense_N573S,Silent,Missense_N250S exm1845312 1 60228254 [T/C] NM_001350793,NM_001350798,NM_001350796,NM_001350797,NM_018291,NM_001350795,NM_001113411,NM_001350792,NM_001244714,NM_001350791,NM_001350799,NM_001350790,NM_001350794,NM_001278224 FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY,FGGY EXON Missense_X496R,Silent,Missense_X440R,Missense_X418R,Missense_X552R,Missense_X488R,Missense_X576R,Missense_X496R,Missense_X464R,Missense_X552R,Silent,Missense_X576R,Silent,Missense_X253R rs74224483 1 60228854 [A/G] JHU_1.60230073 1 60230074 [T/G] rs659844 1 60230074 [T/G] JHU_1.60231993 1 60231994 [T/G] JHU_1.60232191 1 60232192 [A/C] JHU_1.60232432 1 60232433 [T/C] rs140977929 1 60232666 [T/C] rs74878100 1 60233431 [T/C] rs72921623 1 60234839 [A/G] rs72921624 1 60235101 [T/C] rs679812 1 60236531 [A/G] rs674949 1 60240601 [A/G] NR_110627 LOC101926944 Silent rs80053041 1 60240633 [T/C] NR_110627 LOC101926944 Silent JHU_1.60241311 1 60241312 [T/G] NR_110627 LOC101926944 Silent rs74754244 1 60244994 [T/C] NR_110627 LOC101926944 Silent JHU_1.60245387 1 60245388 [A/T] NR_110627 LOC101926944 Silent JHU_1.60246519 1 60246520 [A/G] NR_110627 LOC101926944 Silent rs9436187 1 60249955 [A/G] NR_110627 LOC101926944 Silent rs78266076 1 60250780 [T/C] NR_110627 LOC101926944 Silent rs35644459 1 60253938 [G/C] NR_110627 LOC101926944 Silent rs6672451 1 60259626 [A/G] rs117883291 1 60273456 [A/C] rs11207520 1 60275095 [T/G] JHU_1.60276913 1 60276914 [T/C] JHU_1.60276958 1 60276959 [T/A] JHU_1.60278203 1 60278204 [T/C] rs1933218 1 60279540 [T/G] JHU_1.60280384 1 60280385 [A/C] 1:60280812-CA 1 60280812 [A/C] NM_015888 HOOK1 EXON Missense_P8Q exm63927 1 60287549 [T/C] NM_015888 HOOK1 EXON Missense_A28V exm63930 1 60287591 [C/G] NM_015888 HOOK1 EXON Missense_A42G JHU_1.60289363 1 60289364 [T/C] NM_015888 HOOK1 Silent JHU_1.60295612 1 60295613 [T/C] NM_015888 HOOK1 Silent rs112764214 1 60297981 [A/G] NM_015888 HOOK1 Silent rs76651308 1 60299004 [A/G] NM_015888 HOOK1 Silent exm63937 1 60299125 [A/G] NM_015888 HOOK1 EXON Missense_I108V rs79115409 1 60300984 [A/C] NM_015888 HOOK1 Silent rs11207523 1 60302414 [T/C] NM_015888 HOOK1 Silent variant.3844 1 60306068 [A/G] NM_015888 HOOK1 Silent JHU_1.60309911 1 60309912 [A/G] NM_015888 HOOK1 Silent rs12092576 1 60310298 [T/C] NM_015888 HOOK1 Silent JHU_1.60312018 1 60312019 [A/G] NM_015888 HOOK1 Silent exm63954 1 60314033 [T/C] NM_015888 HOOK1 EXON Missense_Y326H 1:60314055-TC 1 60314055 [T/C] NM_015888 HOOK1 EXON Missense_L333P exm63960 1 60314159 [T/C] NM_015888 HOOK1 EXON Missense_R368C 1:60314814-CT 1 60314814 [T/C] NM_015888 HOOK1 EXON Missense_R401W exm1845332 1 60314815 [A/G] NM_015888 HOOK1 EXON Missense_R401Q rs117259745 1 60315175 [A/G] NM_015888 HOOK1 Silent rs3754203 1 60323953 [T/G] NM_015888 HOOK1 Silent variant.3847 1 60325873 [T/C] NM_015888 HOOK1 EXON Nonsense_R469X exm63973 1 60325933 [A/G] NM_015888 HOOK1 EXON Missense_I489V rs10493269 1 60327434 [T/C] NM_015888 HOOK1 Silent rs11207527 1 60330511 [A/G] NM_015888 HOOK1 Silent exm63987 1 60330900 [T/C] NM_015888 HOOK1 EXON Missense_P576L exm63992 1 60331553 [T/C] NM_015888 HOOK1 EXON Missense_I585T exm63993 1 60331556 [A/G] NM_015888 HOOK1 EXON Missense_N586S exm63996 1 60331623 [A/G] NM_015888 HOOK1 EXON Missense_M608I rs75851640 1 60332374 [A/G] NM_015888 HOOK1 Silent exm64007 1 60338498 [T/C] NM_015888 HOOK1 EXON Missense_S683F 1:60338534-CA 1 60338534 [A/C] NM_015888 HOOK1 EXON Missense_T695N exm64014 1 60338579 [A/G] NM_015888 HOOK1 EXON Missense_H710R JHU_1.60342178 1 60342179 [T/G] rs35743507 1 60349434 [D/I] rs12734028 1 60349843 [T/G] JHU_1.60350971 1 60350972 [T/C] rs12064386 1 60352377 [A/C] rs2280273 1 60358982 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Silent kgp12171305 1 60359077 [A/T] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Silent kgp5898133 1 60359246 [T/A] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Silent kgp15696966 1 60359335 [T/A] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_V499V exm64021 1 60359349 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R495C indel.3849 1 60359360 [D/I] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON 1:60359406-TC 1 60359406 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_N476D rs201379188 1 60359496 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R446W exm2252415 1 60366746 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_A407A rs200652429 1 60366750 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_T406M rs72547598 1 60366757 [A/T] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_N404Y rs199717190 1 60370613 [T/A] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_N374I 1:60370638-TC 1 60370638 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_I366V exm64040 1 60370667 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R356Q exm64041 1 60370671 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_A355T exm64044 1 60370682 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_P351L rs148429756 1 60370682 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_P351L exm64046 1 60370710 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_D342N variant.3851 1 60373458 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_E335K exm64048 1 60373471 [T/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Nonsense_Y330X newrs150250306 1 60373471 [T/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Nonsense_Y330X rs2229191 1 60373500 [T/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_R321R rs150461093 1 60373527 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_G312R exm1845358 1 60373527 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_G312R 1:60375488-AC 1 60375488 [A/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_F277V exm64055 1 60375500 [A/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Nonsense_E273X Variant12404 1 60375508 [D/I] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON newrs143860781 1 60375613 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Nonsense_W235X rs7545849 1 60376114 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 Silent,Silent,Silent rs115453547 1 60377365 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R200H exm64060 1 60377365 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R200H rs66515830 1 60377389 [A/T] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_I192N 1:60377884-CT 1 60377884 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R158H SNP47 1 60377885 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R158C 1:60377885 1 60377885 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R158C SNP101 1 60377930 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_T143A exm64070 1 60377960 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_A133T ilmnseq_1:60378349 1 60378349 [T/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 Silent,Silent,Silent exm64074 1 60381612 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_N124S exm64075 1 60381633 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R117Q 1:60381639 1 60381639 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_P115L exm2233649 1 60381646 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_V113M kgp15417871 1 60381674 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_H103H 1:60381705-CA 1 60381705 [A/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_G93V rs147101939 1 60381952 [A/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 Silent,Silent,Silent JHU_1.60382059 1 60382060 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 Silent,Silent,Silent ilmnseq_1:60392149 1 60392149 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 Silent,Silent,Silent exm64080 1 60392209 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_L70L kgp15360395 1 60392236 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_F61F exm1845377 1 60392263 [A/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Synonymous_F52F 1:60392303-CT 1 60392303 [T/C] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_R39H exm64090 1 60392390 [T/G] NR_134981,NR_134982,NM_000775 CYP2J2,CYP2J2,CYP2J2 EXON Silent,Silent,Missense_A10D rs12743907 1 60402488 [T/C] rs1593461 1 60404941 [A/G] rs150830007 1 60405333 [A/G] rs12404963 1 60405837 [T/C] JHU_1.60406644 1 60406645 [T/C] JHU_1.60407021 1 60407022 [T/C] rs12731852 1 60408975 [T/C] JHU_1.60419352 1 60419353 [T/C] rs7514964 1 60421530 [T/C] rs138415531 1 60422915 [A/G] rs117238822 1 60424451 [A/G] rs77049971 1 60426120 [T/G] rs12070297 1 60430104 [T/C] rs750351 1 60435989 [C/G] rs111352034 1 60436821 [G/C] rs890291 1 60437812 [T/C] JHU_1.60439776 1 60439777 [T/C] rs11800976 1 60446474 [T/C] rs201249399 1 60447378 [C/G] rs2807616 1 60447656 [T/C] JHU_1.60452651 1 60452652 [T/C] 1:60453468-A-G 1 60453468 [A/G] rs4915842 1 60454069 [A/G] JHU_1.60454525 1 60454526 [A/G] exm64096 1 60456364 [T/C] NM_152377 C1orf87 EXON Missense_R541Q exm64097 1 60456365 [A/G] NM_152377 C1orf87 EXON Missense_R541W exm64106 1 60456478 [T/C] NM_152377 C1orf87 EXON Missense_R503H exm64107 1 60456479 [A/G] NM_152377 C1orf87 EXON Missense_R503C newrs114035967 1 60456491 [A/C] NM_152377 C1orf87 EXON Nonsense_E499X exm64109 1 60456491 [A/C] NM_152377 C1orf87 EXON Nonsense_E499X rs4915844 1 60456887 [T/C] NM_152377 C1orf87 Silent JHU_1.60458451 1 60458452 [C/G] NM_152377 C1orf87 Silent rs72912530 1 60458986 [T/A] NM_152377 C1orf87 Silent rs12410417 1 60461056 [T/C] NM_152377 C1orf87 Silent rs4915847 1 60461958 [T/G] NM_152377 C1orf87 Silent rs12070478 1 60462143 [T/C] NM_152377 C1orf87 Silent rs919055 1 60463036 [A/G] NM_152377 C1orf87 Silent exm64110 1 60463283 [A/G] NM_152377 C1orf87 EXON Missense_T493I exm64113 1 60463343 [A/G] NM_152377 C1orf87 EXON Missense_T473M rs140023124 1 60463813 [A/G] NM_152377 C1orf87 Silent rs649859 1 60464168 [A/G] NM_152377 C1orf87 Silent rs79460972 1 60465556 [T/G] NM_152377 C1orf87 Silent 1:60466748-CA 1 60466748 [A/C] NM_152377 C1orf87 Silent exm1845390 1 60466808 [A/G] NM_152377 C1orf87 EXON Missense_P405S JHU_1.60467159 1 60467160 [T/C] NM_152377 C1orf87 Silent rs35682413 1 60468009 [G/C] NM_152377 C1orf87 Silent rs78343947 1 60471115 [T/C] NM_152377 C1orf87 Silent rs142201763 1 60473141 [A/G] NM_152377 C1orf87 Silent 1:60474407-GA 1 60474407 [A/G] NM_152377 C1orf87 Silent rs681724 1 60474983 [A/G] NM_152377 C1orf87 Silent rs141439957 1 60475323 [T/C] NM_152377 C1orf87 Silent variant.3859 1 60476126 [T/C] NM_152377 C1orf87 EXON Nonsense_W377X rs630572 1 60476423 [T/G] NM_152377 C1orf87 Silent rs6698749 1 60478226 [A/G] NM_152377 C1orf87 Silent JHU_1.60480191 1 60480192 [A/G] NM_152377 C1orf87 Silent rs74085873 1 60480636 [T/C] NM_152377 C1orf87 Silent JHU_1.60483059 1 60483060 [T/C] NM_152377 C1orf87 Silent rs191341433 1 60484135 [T/C] NM_152377 C1orf87 Silent rs657373 1 60484684 [T/G] NM_152377 C1orf87 Silent rs150555077 1 60487161 [T/G] NM_152377 C1orf87 Silent rs188994239 1 60488242 [T/C] NM_152377 C1orf87 Silent indel.3860 1 60491130 [I/D] NM_152377 C1orf87 EXON rs653424 1 60491704 [A/G] NM_152377 C1orf87 Silent rs4915626 1 60494904 [A/C] NM_152377 C1orf87 Silent rs642294 1 60494956 [A/C] NM_152377 C1orf87 Silent rs640630 1 60495294 [T/C] NM_152377 C1orf87 Silent 1:60499218-TC 1 60499218 [T/C] NM_152377 C1orf87 EXON Missense_N320S exm64138 1 60499231 [A/T] NM_152377 C1orf87 EXON Missense_N316Y 1:60499247-CT 1 60499247 [T/C] NM_152377 C1orf87 EXON Missense_M310I exm64141 1 60499276 [T/C] NM_152377 C1orf87 EXON Missense_N301D exm64142 1 60499308 [A/G] NM_152377 C1orf87 EXON Missense_P290L var_1_60499314 1 60499314 [T/C] NM_152377 C1orf87 Silent rs17120030 1 60502624 [A/G] NM_152377 C1orf87 Silent variant.3863 1 60503663 [T/C] NM_152377 C1orf87 Silent indel.3864 1 60503685 [D/I] NM_152377 C1orf87 EXON exm1845404 1 60503756 [T/C] NM_152377 C1orf87 EXON Nonsense_W257X exm64151 1 60505617 [T/C] NM_152377 C1orf87 EXON Missense_R240K exm64153 1 60505677 [T/C] NM_152377 C1orf87 EXON Missense_R220H exm64157 1 60505771 [G/C] NM_152377 C1orf87 EXON Missense_P189A exm64158 1 60505774 [A/G] NM_152377 C1orf87 EXON Missense_R188C exm64161 1 60505800 [A/G] NM_152377 C1orf87 EXON Missense_A179V chr1_60505840 1 60505840 [T/G] NM_152377 C1orf87 EXON Missense_S166R rs117959294 1 60506155 [T/C] NM_152377 C1orf87 Silent exm64165 1 60506673 [T/C] NM_152377 C1orf87 EXON Missense_D158G exm64166 1 60506698 [T/C] NM_152377 C1orf87 EXON Missense_E150K rs10493277 1 60506744 [A/G] NM_152377 C1orf87 EXON Synonymous_S134S exm64169 1 60506761 [T/C] NM_152377 C1orf87 EXON Missense_G129R rs78047539 1 60507125 [A/G] NM_152377 C1orf87 Silent rs75041888 1 60508697 [A/G] NM_152377 C1orf87 Silent rs149444168 1 60508891 [A/G] NM_152377 C1orf87 Silent rs77444875 1 60509597 [T/C] NM_152377 C1orf87 Silent rs138490677 1 60512179 [T/C] NM_152377 C1orf87 Silent rs115241274 1 60513419 [T/G] NM_152377 C1orf87 Silent rs144724019 1 60514330 [T/C] NM_152377 C1orf87 Silent exm64173 1 60520956 [A/G] NM_152377 C1orf87 EXON Missense_H88Y 1:60521016-GT 1 60521016 [T/G] NM_152377 C1orf87 EXON Missense_P68T rs189897044 1 60522038 [T/C] NM_152377 C1orf87 Silent rs115261211 1 60524867 [T/C] NM_152377 C1orf87 Silent JHU_1.60525056 1 60525057 [G/C] NM_152377 C1orf87 Silent rs640639 1 60529363 [T/G] NM_152377 C1orf87 Silent rs17120097 1 60543334 [A/C] rs149284104 1 60544560 [A/G] JHU_1.60545880 1 60545881 [A/C] rs685952 1 60547426 [A/G] rs3958719 1 60549059 [T/G] JHU_1.60552402 1 60552403 [A/G] JHU_1.60555797 1 60555798 [T/A] rs680191 1 60557596 [A/G] rs140886053 1 60557845 [T/C] JHU_1.60563508 1 60563509 [A/G] rs12071650 1 60563524 [A/G] JHU_1.60565285 1 60565286 [A/C] rs628215 1 60569672 [A/G] rs77462250 1 60572773 [A/G] rs677574 1 60575925 [T/C] rs191211476 1 60578301 [T/C] exm2264843 1 60579518 [A/G] rs77129623 1 60579937 [T/C] rs6677345 1 60581154 [T/C] rs75339012 1 60582323 [A/G] rs12122558 1 60584031 [C/G] rs665062 1 60585522 [A/G] JHU_1.60596106 1 60596107 [T/C] JHU_1.60596715 1 60596716 [A/G] rs645024 1 60597914 [A/G] rs680811 1 60599251 [T/G] rs6686672 1 60605603 [A/G] rs17120249 1 60607071 [A/C] rs583614 1 60607633 [T/G] rs74087064 1 60613745 [A/G] JHU_1.60615075 1 60615076 [T/C] rs180843994 1 60618983 [A/C] rs78430529 1 60622666 [A/G] JHU_1.60625844 1 60625845 [T/C] rs182761213 1 60627710 [A/G] rs922356 1 60631000 [A/G] rs75291572 1 60632162 [G/C] rs149900194 1 60637144 [T/C] 1:60638343-G-A 1 60638343 [A/G] rs6689245 1 60639988 [T/A] JHU_1.60644889 1 60644890 [A/C] rs11584678 1 60650062 [A/G] rs149265882 1 60655825 [A/G] rs6587877 1 60659543 [T/C] rs10443220 1 60659719 [T/C] rs6661520 1 60666641 [T/G] rs1381888 1 60667904 [A/G] rs140304272 1 60668750 [T/C] JHU_1.60677027 1 60677028 [T/C] rs74727867 1 60679123 [A/C] JHU_1.60681556 1 60681557 [T/G] rs12027054 1 60689817 [T/G] rs17120400 1 60691588 [A/G] rs17120404 1 60696595 [A/G] rs80110712 1 60696744 [T/G] JHU_1.60698120 1 60698121 [A/T] JHU_1.60699714 1 60699715 [T/C] rs10515373 1 60701724 [T/G] rs3906402 1 60702323 [T/C] rs7535541 1 60704278 [A/C] rs72911850 1 60705239 [A/C] rs3906403 1 60709827 [T/C] 1:60710652-T-C 1 60710652 [T/C] rs75423835 1 60710956 [A/G] JHU_1.60715539 1 60715540 [A/C] rs75505820 1 60716781 [A/G] rs6684642 1 60717715 [A/G] rs183352625 1 60719801 [T/G] rs191218588 1 60723293 [T/C] JHU_1.60730186 1 60730187 [T/G] rs6662682 1 60730938 [A/G] JHU_1.60734534 1 60734535 [T/C] rs66682742 1 60738334 [T/C] JHU_1.60738390 1 60738391 [T/C] JHU_1.60741324 1 60741325 [A/C] rs78034166 1 60742075 [A/G] JHU_1.60750751 1 60750752 [A/G] rs12751178 1 60754055 [A/G] rs6587879 1 60756493 [T/C] JHU_1.60757628 1 60757629 [A/G] rs4259695 1 60758915 [A/G] JHU_1.60760930 1 60760931 [A/G] rs61802249 1 60761119 [T/C] rs4147294 1 60762564 [A/G] rs76673089 1 60772088 [A/G] rs61802254 1 60776673 [A/G] JHU_1.60781980 1 60781981 [T/G] rs117701563 1 60783576 [A/G] rs117297292 1 60786384 [A/G] JHU_1.60788750 1 60788751 [T/C] rs454776 1 60794707 [T/C] rs35612858 1 60795322 [T/C] JHU_1.60798900 1 60798901 [A/G] rs298167 1 60805150 [A/G] rs1392927 1 60809259 [A/T] JHU_1.60813893 1 60813894 [T/C] rs17120548 1 60814742 [A/G] rs138684614 1 60819515 [A/G] rs113448903 1 60820463 [T/C] JHU_1.60822885 1 60822886 [A/G] JHU_1.60822886 1 60822887 [T/C] rs1501246 1 60828648 [A/G] rs2937308 1 60832948 [A/G] rs298142 1 60833726 [A/G] rs298147 1 60838146 [T/C] rs75565762 1 60841810 [T/C] JHU_1.60844090 1 60844091 [A/C] rs298128 1 60848538 [A/G] rs3013544 1 60852092 [A/C] rs113039218 1 60853722 [T/C] JHU_1.60861409 1 60861410 [A/G] JHU_1.60868894 1 60868895 [T/C] JHU_1.60869468 1 60869469 [A/C] JHU_1.60869722 1 60869723 [A/G] rs17373404 1 60869918 [G/C] 1:60870095-C-T 1 60870095 [T/C] rs114390659 1 60870349 [A/G] JHU_1.60873708 1 60873709 [A/C] rs298155 1 60874772 [A/C] rs7529292 1 60876146 [T/C] rs657300 1 60876186 [A/G] JHU_1.60878327 1 60878328 [A/G] JHU_1.60879037 1 60879038 [T/C] rs1392932 1 60879818 [C/G] JHU_1.60881950 1 60881951 [T/C] 1:60883895-T-C 1 60883895 [T/C] rs11207605 1 60887538 [A/G] rs10493287 1 60888482 [T/G] rs2062629 1 60889219 [T/C] rs11207606 1 60891642 [A/C] rs61802072 1 60897910 [T/A] rs79867171 1 60898459 [T/C] 1:60898477-T-C 1 60898477 [T/C] rs1501228 1 60907460 [T/G] JHU_1.60910233 1 60910234 [A/T] JHU_1.60911997 1 60911998 [A/G] rs72673419 1 60913143 [T/C] rs79608841 1 60913980 [A/G] rs10493283 1 60915699 [T/C] rs79179697 1 60915826 [T/C] JHU_1.60917553 1 60917554 [A/G] rs4915693 1 60927512 [A/G] rs112844422 1 60927872 [T/C] rs79920074 1 60933287 [A/G] JHU_1.60938677 1 60938678 [A/G] rs4644526 1 60939827 [A/G] rs113480429 1 60942566 [T/C] rs12404114 1 60944959 [A/C] 1:60946624-T-C 1 60946624 [T/C] rs146776423 1 60948588 [T/A] JHU_1.60948682 1 60948683 [A/G] JHU_1.60951874 1 60951875 [A/T] rs4075690 1 60952106 [T/C] JHU_1.60955297 1 60955298 [A/C] rs77356175 1 60962625 [A/G] JHU_1.60965818 1 60965819 [A/G] rs139175852 1 60966765 [A/G] rs7355119 1 60966964 [T/C] rs11806181 1 60975097 [T/G] rs7522454 1 60983620 [A/G] NR_146508 LINC01748 Silent rs7412958 1 60983782 [A/G] NR_146508 LINC01748 Silent rs148187514 1 60986330 [A/T] NR_146508 LINC01748 Silent rs79366899 1 60986359 [A/G] NR_146508 LINC01748 Silent JHU_1.60990153 1 60990154 [A/G] NR_146508 LINC01748 Silent JHU_1.60998733 1 60998734 [T/G] NR_146508 LINC01748 Silent rs10889183 1 60999977 [T/C] NR_146508 LINC01748 Silent rs147220010 1 61002042 [A/G] NR_146508 LINC01748 Silent rs75852290 1 61002499 [G/C] NR_146508 LINC01748 Silent rs4474288 1 61006335 [T/C] NR_146508 LINC01748 Silent rs6587887 1 61009286 [T/C] NR_146508 LINC01748 Silent rs7522761 1 61014021 [A/G] NR_146508 LINC01748 Silent rs113992192 1 61019962 [T/C] NR_146508 LINC01748 Silent rs147520007 1 61021007 [A/G] NR_146508 LINC01748 Silent rs4075486 1 61034642 [T/C] NR_146508 LINC01748 Silent rs1461356 1 61037015 [A/G] NR_146508 LINC01748 Silent JHU_1.61039964 1 61039965 [A/G] NR_146508 LINC01748 Silent rs12565755 1 61041875 [T/C] NR_146508 LINC01748 Silent rs10493290 1 61042865 [T/C] NR_146508 LINC01748 Silent JHU_1.61043302 1 61043303 [A/G] NR_146508 LINC01748 Silent rs7525390 1 61044581 [A/G] NR_146508 LINC01748 Silent JHU_1.61048438 1 61048439 [T/C] NR_146508 LINC01748 Silent exm-rs2989476 1 61059259 [G/C] NR_146508 LINC01748 Silent rs3896178 1 61061996 [A/G] NR_146508 LINC01748 EXON Silent rs484743 1 61062474 [A/G] NR_146508 LINC01748 Silent JHU_1.61063224 1 61063225 [A/G] NR_146508 LINC01748 Silent JHU_1.61063245 1 61063246 [A/C] NR_146508 LINC01748 Silent rs76593289 1 61066238 [A/G] NR_146508 LINC01748 Silent rs61802845 1 61068243 [T/C] NR_146508 LINC01748 Silent rs115831699 1 61069013 [T/C] NR_146508 LINC01748 Silent rs555216 1 61074385 [T/A] NR_146508 LINC01748 Silent JHU_1.61074816 1 61074817 [T/G] NR_146508 LINC01748 Silent rs115601442 1 61075788 [T/C] NR_146508 LINC01748 Silent rs116989473 1 61083054 [A/G] NR_146508 LINC01748 Silent JHU_1.61083443 1 61083444 [T/C] NR_146508 LINC01748 Silent rs78368423 1 61086034 [C/G] NR_146508 LINC01748 Silent rs76374611 1 61088186 [T/A] NR_146508 LINC01748 EXON Silent rs72675288 1 61089394 [T/C] rs814197 1 61092456 [T/G] exm-rs472913 1 61095558 [C/G] rs138731974 1 61097078 [A/G] rs7551820 1 61098227 [A/G] rs496946 1 61099717 [A/G] rs497005 1 61111774 [T/C] JHU_1.61119314 1 61119315 [A/G] rs473368 1 61121928 [A/C] JHU_1.61123784 1 61123785 [T/C] rs72921981 1 61126524 [T/C] NR_110628 LOC101926964 EXON Silent rs74379315 1 61127173 [A/G] NR_110628 LOC101926964 Silent rs17120865 1 61128440 [G/C] NR_110628 LOC101926964 Silent rs12043321 1 61128595 [G/C] NR_110628 LOC101926964 Silent rs4916077 1 61129046 [A/G] NR_110628 LOC101926964 Silent rs4915699 1 61133462 [A/G] NR_110628 LOC101926964 Silent rs75458283 1 61133936 [T/C] NR_110628 LOC101926964 Silent rs72677097 1 61134076 [A/G] NR_110628 LOC101926964 Silent JHU_1.61135346 1 61135347 [A/G] NR_110628 LOC101926964 Silent JHU_1.61136247 1 61136248 [A/G] NR_110628 LOC101926964 Silent rs568967 1 61137245 [T/C] NR_110628 LOC101926964 Silent rs79928389 1 61138194 [A/C] NR_110628 LOC101926964 Silent rs147505310 1 61139101 [A/G] NR_110628 LOC101926964 Silent rs10493293 1 61139168 [A/G] NR_110628 LOC101926964 Silent rs76011977 1 61140263 [T/C] NR_110628 LOC101926964 Silent rs61804310 1 61140724 [T/C] NR_110628 LOC101926964 Silent rs10493033 1 61141098 [A/G] NR_110628 LOC101926964 Silent rs530889 1 61141919 [T/C] NR_110628 LOC101926964 Silent rs17185178 1 61144316 [A/G] NR_110628 LOC101926964 Silent rs12066908 1 61144696 [A/G] NR_110628 LOC101926964 Silent rs547637 1 61145215 [T/C] NR_110628 LOC101926964 Silent rs115192627 1 61145290 [A/G] NR_110628 LOC101926964 Silent rs12119561 1 61149740 [T/C] NR_110628 LOC101926964 Silent rs7542336 1 61153153 [A/G] NR_110628 LOC101926964 Silent rs76850960 1 61153381 [C/G] NR_110628 LOC101926964 Silent rs1461353 1 61157162 [A/C] NR_110628 LOC101926964 Silent rs1381170 1 61162222 [A/G] NR_110628 LOC101926964 Silent rs10493294 1 61170724 [A/G] NR_110628 LOC101926964 Silent rs150257099 1 61179677 [A/G] NR_110628 LOC101926964 Silent rs111381992 1 61182186 [A/C] NR_110628 LOC101926964 Silent JHU_1.61183235 1 61183236 [A/G] NR_110628 LOC101926964 Silent rs1514185 1 61184756 [T/C] NR_110628 LOC101926964 Silent rs12045994 1 61192181 [T/C] NR_110628 LOC101926964 Silent JHU_1.61193317 1 61193318 [T/C] NR_110628 LOC101926964 Silent JHU_1.61195118 1 61195119 [T/A] NR_110628 LOC101926964 Silent rs1022265 1 61196715 [A/G] NR_110628 LOC101926964 Silent rs145779394 1 61197862 [T/C] NR_110628 LOC101926964 Silent rs34290817 1 61198940 [T/A] NR_110628 LOC101926964 Silent JHU_1.61201194 1 61201195 [T/C] NR_110628 LOC101926964 Silent rs1563954 1 61202901 [A/C] NR_110628 LOC101926964 Silent JHU_1.61205109 1 61205110 [T/G] NR_110628 LOC101926964 Silent rs1514178 1 61205469 [T/C] NR_110628 LOC101926964 Silent JHU_1.61210494 1 61210495 [C/G] NR_110628 LOC101926964 Silent JHU_1.61212462 1 61212463 [T/A] NR_110628 LOC101926964 Silent JHU_1.61220515 1 61220516 [A/C] NR_110628 LOC101926964 Silent JHU_1.61220727 1 61220728 [A/G] NR_110628 LOC101926964 Silent rs61800997 1 61222808 [T/C] NR_110628 LOC101926964 Silent rs4915577 1 61223162 [A/G] NR_110628 LOC101926964 Silent rs11583359 1 61225064 [T/C] NR_110628 LOC101926964 Silent rs17374695 1 61226664 [T/A] NR_110628 LOC101926964 Silent rs72678767 1 61227084 [C/G] NR_110628 LOC101926964 Silent exm2268697 1 61229363 [T/G] NR_110628 LOC101926964 Silent rs10889198 1 61229925 [T/C] NR_110628 LOC101926964 Silent rs78096733 1 61230170 [A/G] NR_110628 LOC101926964 Silent rs72923944 1 61230316 [T/C] NR_110628 LOC101926964 Silent JHU_1.61231007 1 61231008 [A/G] NR_110628 LOC101926964 Silent rs310166 1 61231047 [T/G] NR_110628 LOC101926964 Silent JHU_1.61231953 1 61231954 [A/G] NR_110628 LOC101926964 Silent rs310170 1 61233723 [T/C] NR_110628 LOC101926964 Silent JHU_1.61234241 1 61234242 [T/G] NR_110628 LOC101926964 Silent rs6676070 1 61234270 [A/G] NR_110628 LOC101926964 Silent rs425181 1 61235684 [T/C] NR_110628 LOC101926964 Silent JHU_1.61248762 1 61248763 [T/G] NR_110628 LOC101926964 Silent JHU_1.61248844 1 61248845 [T/C] NR_110628 LOC101926964 Silent rs1399163 1 61249204 [A/G] NR_110628 LOC101926964 Silent JHU_1.61250838 1 61250839 [A/T] NR_110628 LOC101926964 Silent JHU_1.61255462 1 61255463 [T/C] NR_110628 LOC101926964 Silent rs150031287 1 61257888 [A/G] NR_110628 LOC101926964 Silent rs146813400 1 61262453 [A/G] NR_110628 LOC101926964 Silent rs12563773 1 61263297 [T/C] NR_110628 LOC101926964 Silent rs6650097 1 61264342 [A/G] NR_110628 LOC101926964 Silent rs12118955 1 61265344 [A/C] NR_110628 LOC101926964 Silent rs72678785 1 61267020 [T/G] NR_110628 LOC101926964 Silent rs79256142 1 61267478 [T/C] NR_110628 LOC101926964 Silent rs144603212 1 61271763 [A/C] NR_110628 LOC101926964 Silent rs189369268 1 61273813 [A/G] NR_110628 LOC101926964 Silent rs647554 1 61274442 [T/G] NR_110628 LOC101926964 Silent JHU_1.61278790 1 61278791 [G/C] NR_110628 LOC101926964 Silent rs72923995 1 61279101 [T/C] NR_110628 LOC101926964 Silent rs12759959 1 61280352 [A/G] NR_110628 LOC101926964 Silent rs1832087 1 61280998 [A/G] NR_110628 LOC101926964 Silent exm-rs1877734 1 61282089 [A/G] NR_110628 LOC101926964 Silent JHU_1.61282888 1 61282889 [A/G] NR_110628 LOC101926964 Silent rs12059652 1 61287929 [A/G] NR_110628 LOC101926964 Silent rs114220250 1 61288633 [T/G] NR_110628 LOC101926964 Silent rs17375005 1 61290958 [A/C] NR_110628 LOC101926964 Silent rs648787 1 61296240 [A/G] JHU_1.61297046 1 61297047 [T/C] JHU_1.61297308 1 61297309 [T/G] rs11808039 1 61303553 [A/G] rs12032365 1 61306937 [A/G] 1:61307498-T-C 1 61307498 [T/C] rs7513184 1 61311939 [T/G] rs788040 1 61313338 [T/C] rs805499 1 61318179 [A/G] JHU_1.61319877 1 61319878 [T/C] rs6587905 1 61321009 [T/C] JHU_1.61322710 1 61322711 [T/G] JHU_1.61324129 1 61324130 [T/G] rs11581224 1 61325355 [T/C] rs17375248 1 61328485 [T/C] rs72925937 1 61328602 [A/G] rs524991 1 61329703 [A/G] rs6701075 1 61329988 [T/C] rs6657429 1 61332973 [T/C] rs7532404 1 61335153 [A/G] rs17303326 1 61336893 [A/G] rs310172 1 61337290 [T/C] rs435215 1 61339842 [A/T] rs656459 1 61340626 [G/C] JHU_1.61344055 1 61344056 [T/G] JHU_1.61348217 1 61348218 [T/C] rs505566 1 61348755 [A/G] rs1447184 1 61355010 [A/G] JHU_1.61357827 1 61357828 [T/C] JHU_1.61359144 1 61359145 [A/T] JHU_1.61359179 1 61359180 [A/C] rs1002005 1 61360179 [T/C] rs17121221 1 61360455 [T/C] JHU_1.61361251 1 61361252 [T/C] JHU_1.61361980 1 61361981 [A/G] rs1414276 1 61362099 [A/T] rs17303508 1 61362132 [T/C] rs1470532 1 61362221 [T/G] JHU_1.61362220 1 61362221 [T/G] rs72680620 1 61362390 [A/C] JHU_1.61365010 1 61365011 [C/G] JHU_1.61366642 1 61366643 [A/G] rs76772552 1 61366643 [A/G] rs12028543 1 61368719 [A/G] rs58604783 1 61371278 [A/G] rs686843 1 61374136 [A/G] JHU_1.61375372 1 61375373 [A/G] rs670447 1 61375501 [C/G] JHU_1.61375906 1 61375907 [T/C] JHU_1.61375945 1 61375946 [A/C] rs12078907 1 61376298 [A/G] rs662495 1 61377516 [A/G] rs11207682 1 61377927 [A/G] JHU_1.61377943 1 61377944 [A/G] rs17121250 1 61380205 [T/G] rs4915717 1 61383717 [A/G] rs17303711 1 61384097 [T/C] rs12062121 1 61384107 [T/C] rs58240043 1 61385164 [T/G] JHU_1.61385775 1 61385776 [T/C] rs754174 1 61392338 [A/G] rs35787316 1 61395346 [A/G] JHU_1.61396661 1 61396662 [A/G] rs12141322 1 61397168 [T/C] rs58250898 1 61397240 [A/G] JHU_1.61397507 1 61397508 [T/G] rs535381 1 61398264 [T/C] rs12142431 1 61398276 [T/C] rs632853 1 61403867 [A/G] rs145711686 1 61404601 [A/G] rs113734157 1 61405690 [A/G] rs536245 1 61407821 [T/C] NR_110617 NFIA-AS2 Silent rs1414277 1 61409064 [T/C] NR_110617 NFIA-AS2 Silent rs17121331 1 61412131 [T/G] NR_110617 NFIA-AS2 Silent JHU_1.61412667 1 61412668 [C/G] NR_110617 NFIA-AS2 Silent rs502332 1 61412947 [A/G] NR_110617 NFIA-AS2 Silent JHU_1.61413544 1 61413545 [T/C] NR_110617 NFIA-AS2 Silent rs17376021 1 61417372 [T/G] NR_110617 NFIA-AS2 Silent rs1572312 1 61417729 [T/G] NR_110617 NFIA-AS2 Silent JHU_1.61420253 1 61420254 [C/G] NR_110617,NR_110618 NFIA-AS2,NFIA-AS2 EXON Silent,Silent rs117499101 1 61423431 [A/G] NR_110617,NR_110618 NFIA-AS2,NFIA-AS2 Silent,Silent rs2361817 1 61423517 [A/G] NR_110617,NR_110618 NFIA-AS2,NFIA-AS2 Silent,Silent JHU_1.61425454 1 61425455 [T/C] NR_110617,NR_110618 NFIA-AS2,NFIA-AS2 Silent,Silent rs12038942 1 61435075 [T/C] NR_110617,NR_110618 NFIA-AS2,NFIA-AS2 Silent,Silent rs115306582 1 61438050 [A/G] JHU_1.61438333 1 61438334 [A/G] rs148748573 1 61438685 [T/C] rs12081095 1 61441201 [A/G] rs17121386 1 61441767 [A/G] exm2260512 1 61442276 [A/G] 1:61443756-C-A 1 61443756 [A/C] rs12047847 1 61444568 [A/G] rs12088656 1 61446892 [A/G] rs1032622 1 61447172 [A/C] rs17121432 1 61448498 [T/C] rs17121437 1 61448835 [T/C] rs12140465 1 61449494 [T/C] JHU_1.61454019 1 61454020 [T/C] rs10458567 1 61454166 [T/G] rs10889204 1 61454885 [A/G] rs1032623 1 61456066 [A/G] rs74918369 1 61457396 [A/C] rs77635937 1 61457902 [A/G] rs117603404 1 61459600 [G/C] rs12028122 1 61463426 [A/G] rs111970116 1 61464339 [C/G] JHU_1.61464436 1 61464437 [T/C] rs58406226 1 61464505 [A/G] exm2252445 1 61465289 [A/G] rs56168787 1 61465962 [T/C] rs1694216 1 61466131 [A/T] rs11207688 1 61467028 [T/C] JHU_1.61470245 1 61470246 [C/G] JHU_1.61471025 1 61471026 [A/G] JHU_1.61471236 1 61471237 [T/C] rs6704333 1 61476309 [T/C] rs1498109 1 61476762 [T/C] JHU_1.61477168 1 61477169 [A/G] rs1419336 1 61477603 [T/C] rs117617082 1 61478609 [A/C] rs4915725 1 61478904 [T/C] rs17121523 1 61482640 [T/C] JHU_1.61491484 1 61491485 [T/C] rs74086413 1 61492807 [T/C] rs114631411 1 61492948 [T/C] rs1777533 1 61493285 [A/G] JHU_1.61497010 1 61497011 [A/C] rs77298200 1 61497011 [A/C] rs7550247 1 61504490 [A/G] rs76095210 1 61507069 [A/G] rs78117858 1 61507934 [T/C] rs1779851 1 61510619 [T/C] rs74086427 1 61518429 [T/G] rs12565220 1 61522880 [T/C] JHU_1.61523169 1 61523170 [T/C] rs75012169 1 61525738 [T/C] JHU_1.61526369 1 61526370 [A/C] JHU_1.61527768 1 61527769 [A/T] JHU_1.61528542 1 61528543 [A/G] JHU_1.61530621 1 61530622 [A/G] rs58944250 1 61533313 [T/C] JHU_1.61542891 1 61542892 [A/G] rs1984296 1 61545688 [G/C] NM_001145511 NFIA Silent 1:61548452-CA 1 61548452 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Silent,Missense_R42S,Silent,Silent JHU_1.61549579 1 61549580 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61551521 1 61551522 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent exm64190 1 61553987 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Missense_P57L,Missense_P110L,Missense_P65L,Missense_P65L 1:61554032-GA 1 61554032 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Missense_R72Q,Missense_R125Q,Missense_R80Q,Missense_R80Q rs11207695 1 61554927 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61555378 1 61555379 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs138704012 1 61556874 [G/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs4550087 1 61558068 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs192257310 1 61561046 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs964091 1 61567939 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs4915586 1 61574157 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs77016081 1 61574520 [A/T] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17121624 1 61584195 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs370367645 1 61584450 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs116278962 1 61585883 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61587365 1 61587366 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61591580 1 61591581 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61592449 1 61592450 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6678039 1 61597165 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs41289418 1 61598476 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs72664839 1 61606809 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61615920 1 61615921 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61617595 1 61617596 [G/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs334701 1 61619056 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs334699 1 61620496 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs11207699 1 61625048 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs334711 1 61625310 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs168022 1 61629453 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17121764 1 61635471 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs11207705 1 61640688 [A/T] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs151208189 1 61641828 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs370646297 1 61645728 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs914735 1 61646425 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs76817537 1 61646918 [A/T] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12091215 1 61647103 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs10789093 1 61648634 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61650023 1 61650024 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs78588093 1 61650464 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12142891 1 61652197 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs74762505 1 61658686 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61659324 1 61659325 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12126115 1 61659786 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs11207710 1 61659933 [G/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs13376298 1 61660176 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs139365633 1 61662448 [A/T] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61665739 1 61665740 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61668798 1 61668799 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61668911 1 61668912 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61669032 1 61669033 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61669038 1 61669039 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61669070 1 61669071 [C/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61669095 1 61669096 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61669305 1 61669306 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61669534 1 61669535 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12118221 1 61671468 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs332820 1 61678091 [C/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs332819 1 61678557 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61679423 1 61679424 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs333149 1 61680057 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs10889217 1 61680430 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs333146 1 61681500 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61681834 1 61681835 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs117393378 1 61682002 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12734797 1 61684518 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61685789 1 61685790 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs333159 1 61691633 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6669982 1 61704221 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs332833 1 61704363 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61705088 1 61705089 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs74090351 1 61705898 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs7540527 1 61706073 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17121853 1 61708978 [G/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs143229726 1 61713195 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs332835 1 61716702 [C/G] NM_001145511,NM_001145512,NM_005595,NM_001134673,NR_104180 NFIA,NFIA,NFIA,NFIA,NFIA-AS1 Silent,Silent,Silent,Silent,Silent rs114387477 1 61716882 [C/G] NM_001145511,NM_001145512,NM_005595,NM_001134673,NR_104180 NFIA,NFIA,NFIA,NFIA,NFIA-AS1 Silent,Silent,Silent,Silent,Silent JHU_1.61718766 1 61718767 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673,NR_104180 NFIA,NFIA,NFIA,NFIA,NFIA-AS1 Silent,Silent,Silent,Silent,Silent JHU_1.61725537 1 61725538 [C/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs74086708 1 61727049 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17311775 1 61728253 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61729207 1 61729208 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs140636539 1 61729943 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61730353 1 61730354 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6684051 1 61731440 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs7544358 1 61733856 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61737852 1 61737853 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs332830 1 61739394 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12562645 1 61743478 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61744294 1 61744295 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61744904 1 61744905 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61751501 1 61751502 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs76695516 1 61751640 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61752116 1 61752117 [A/T] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61753336 1 61753337 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61756433 1 61756434 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2243874 1 61757024 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs72664901 1 61758528 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61760356 1 61760357 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61760492 1 61760493 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs1414265 1 61762362 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs78860477 1 61767020 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs138713485 1 61769230 [C/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61770340 1 61770341 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs78696043 1 61771306 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61771813 1 61771814 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61773440 1 61773441 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs139038184 1 61774740 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2806436 1 61774969 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs35998452 1 61776107 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2363876 1 61776742 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6658608 1 61778594 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs74086721 1 61779763 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs57722822 1 61780526 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61781105 1 61781106 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61782970 1 61782971 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2067774 1 61784017 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2806440 1 61786398 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61787043-T-C 1 61787043 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs72911980 1 61787652 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6691768 1 61791863 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61792705 1 61792706 [T/A] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6670817 1 61793059 [T/A] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61796109 1 61796110 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent exm64203 1 61798195 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Missense_F205V,Missense_F258V,Missense_F213V,Missense_F213V 1:61800724-T-C 1 61800724 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61800852-C-T 1 61800852 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61802170-T-G 1 61802170 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs11207724 1 61804585 [A/T] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs77586475 1 61804703 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61805454 1 61805455 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61807906-G-A 1 61807906 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61807924-C-T 1 61807924 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12743816 1 61809214 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61810146 1 61810147 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs766488 1 61810515 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs766489 1 61810693 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61812028-G-A 1 61812028 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs9436636 1 61812773 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61814122-A-G 1 61814122 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12739067 1 61815710 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61815798 1 61815799 [T/A] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs4915736 1 61817759 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61818421 1 61818422 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17121983 1 61820072 [G/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61821800-A-G 1 61821800 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs7556462 1 61821819 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs9787075 1 61822092 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs4915737 1 61822283 [G/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs116944440 1 61822426 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs41453448 1 61824389 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2180200 1 61826395 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61827731-G-A 1 61827731 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61829000-G-T 1 61829000 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61831438 1 61831439 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs1125777 1 61831890 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12568010 1 61831938 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61833142-A-G 1 61833142 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61833691-C-T 1 61833691 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61833960 1 61833961 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61834548-A-T 1 61834548 [T/A] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6587922 1 61835106 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17122010 1 61836121 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61836887-C-T 1 61836887 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61837509-A-G 1 61837509 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17265629 1 61837871 [A/T] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs10489911 1 61838509 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs79486150 1 61839461 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61841528-A-G 1 61841528 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61842292-T-C 1 61842292 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17122043 1 61844060 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs7545732 1 61847007 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17122061 1 61847180 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs7517854 1 61848183 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs116247463 1 61849014 [G/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Missense_R343P,Missense_R396P,Missense_R351P,Missense_R351P JHU_1.61849331 1 61849332 [T/A] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61851375 1 61851376 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61851906-G-A 1 61851906 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs11207732 1 61853026 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61853554 1 61853555 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61854282-A-G 1 61854282 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2499507 1 61858621 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17265698 1 61858646 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61859285-G-A 1 61859285 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs74089311 1 61860509 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61860959 1 61860960 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs11581697 1 61861024 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61862685 1 61862686 [T/A] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs77306473 1 61866020 [G/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61867143-A-G 1 61867143 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs56838509 1 61867180 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2474382 1 61869118 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61869813-G-A 1 61869813 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Synonymous_P363P,Synonymous_P416P,Synonymous_P371P,Synonymous_P371P 1:61872259-TG 1 61872259 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Missense_V419G,Missense_V472G,Missense_V427G,Missense_V427G 1:61872824-A-G 1 61872824 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17122178 1 61874054 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61875373-A-G 1 61875373 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61877378-A-G 1 61877378 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61877393-C-T 1 61877393 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2092867 1 61877445 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61878851 1 61878852 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61879639-ATTGTTTTT-A 1 61879639 [I/D] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA rs2474373 1 61880714 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61881512-C-T 1 61881512 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61883027-T-G 1 61883027 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs55914812 1 61883341 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs79934357 1 61885693 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61886599-C-T 1 61886599 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61886744-C-T 1 61886744 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61888568 1 61888569 [G/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61888615-C-T 1 61888615 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2474369 1 61888828 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs11207738 1 61890465 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61891369-C-G 1 61891369 [G/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61892175-GA 1 61892175 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Missense_V479I,Missense_V532I,Silent,Missense_V487I 1:61892718-T-C 1 61892718 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs77736468 1 61894217 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61894653-C-T 1 61894653 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2207792 1 61894709 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61894902-A-G 1 61894902 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6587924 1 61895257 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61895589-C-A 1 61895589 [A/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61895872 1 61895873 [T/A] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61897148-T-A 1 61897148 [T/A] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2207790 1 61897967 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs77123311 1 61898184 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61898628-G-A 1 61898628 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61899519-A-G 1 61899519 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs78547188 1 61901102 [A/T] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs1884367 1 61902907 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61903277 1 61903278 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61903522-TTCTGTTTGGTGTA-T 1 61903522 [I/D] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA rs17122212 1 61903554 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61905226-G-A 1 61905226 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61909126-A-G 1 61909126 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61909587-A-T 1 61909587 [A/T] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61909945-G-A 1 61909945 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61910142-C-T 1 61910142 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6656834 1 61913991 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61914526-A-G 1 61914526 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61914957 1 61914958 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs79574044 1 61915862 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61916597 1 61916598 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 1:61916676-G-A 1 61916676 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61916786 1 61916787 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2499540 1 61918044 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61918043 1 61918044 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent JHU_1.61918619 1 61918620 [A/T] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2474358 1 61920769 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent exm64236 1 61920993 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Silent,Silent,Missense_K480R,Silent exm1849030 1 61921034 [T/C] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Silent,Silent,Missense_P494S,Silent JHU_1.61921198 1 61921199 [A/T] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Silent,Silent,Silent,Silent JHU_1.61922364 1 61922365 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Silent,Silent,Silent,Silent JHU_1.61927735 1 61927736 [T/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Silent,Silent,Silent,Silent rs76817088 1 61927917 [A/G] NM_001145511,NM_001145512,NM_005595,NM_001134673 NFIA,NFIA,NFIA,NFIA EXON Silent,Silent,Silent,Silent JHU_1.61928721 1 61928722 [A/G] rs34026592 1 61929258 [D/I] JHU_1.61930009 1 61930010 [A/G] rs71641736 1 61930010 [A/G] rs2474366 1 61931141 [T/C] rs9436212 1 61931351 [A/G] JHU_1.61934023 1 61934024 [T/C] rs12040431 1 61935306 [T/C] 1:61936966-G-A 1 61936966 [A/G] 1:61937417-A-C 1 61937417 [A/C] rs72917857 1 61939673 [G/C] rs7540743 1 61945181 [T/G] rs75226139 1 61947016 [A/G] rs4915745 1 61947516 [T/G] JHU_1.61947550 1 61947551 [T/C] rs17122249 1 61948961 [T/C] JHU_1.61950354 1 61950355 [A/G] rs4512682 1 61950355 [A/G] exm-rs4915746 1 61952574 [A/G] rs4915746 1 61952574 [A/G] 1:61953781-C-G 1 61953781 [C/G] 1:61954335-T-C 1 61954335 [T/C] JHU_1.61954825 1 61954826 [A/C] JHU_1.61954914 1 61954915 [T/C] JHU_1.61956576 1 61956577 [C/G] 1:61956671-G-A 1 61956671 [A/G] rs4132542 1 61957213 [T/G] rs17122294 1 61959070 [T/C] rs3890764 1 61961953 [A/G] rs6682077 1 61966582 [A/C] 1:61966650-T-C 1 61966650 [T/C] JHU_1.61968842 1 61968843 [A/G] 1:61971111-T-G 1 61971111 [T/G] rs2499508 1 61972012 [A/G] JHU_1.61972301 1 61972302 [T/C] rs2499511 1 61972591 [A/G] 1:61973600-C-T 1 61973600 [T/C] JHU_1.61974141 1 61974142 [A/G] 1:61976890-T-G 1 61976890 [T/G] JHU_1.61977567 1 61977568 [A/G] 1:61978390-C-A 1 61978390 [A/C] 1:61980487-A-C 1 61980487 [A/C] 1:61981860-C-A 1 61981860 [A/C] JHU_1.61981859 1 61981860 [A/C] rs2152981 1 61982235 [T/C] rs145034409 1 61985857 [A/G] 1:61987278-G-C 1 61987278 [G/C] 1:61987967-C-T 1 61987967 [T/C] 1:61988427-C-T 1 61988427 [T/C] 1:61989012-T-A 1 61989012 [A/T] rs11207758 1 61989826 [T/C] rs76260677 1 61992022 [T/C] 1:61992098-G-A 1 61992098 [A/G] JHU_1.61994146 1 61994147 [A/G] 1:61997247-A-G 1 61997247 [A/G] rs1890265 1 61998177 [T/G] JHU_1.61999010 1 61999011 [A/C] rs116484504 1 62000765 [T/C] JHU_1.62001036 1 62001037 [A/G] rs1933301 1 62002888 [A/G] rs7541526 1 62003946 [A/G] rs78907400 1 62004592 [T/C] rs116399186 1 62005782 [A/G] JHU_1.62019879 1 62019880 [A/G] JHU_1.62020085 1 62020086 [T/C] rs12727960 1 62026626 [A/G] rs6661015 1 62027586 [A/C] rs12132826 1 62028669 [T/C] rs59748689 1 62028963 [A/G] rs6681210 1 62031869 [A/G] rs2365259 1 62034999 [A/C] JHU_1.62036974 1 62036975 [T/C] rs115703903 1 62037187 [A/G] JHU_1.62047906 1 62047907 [T/A] JHU_1.62049467 1 62049468 [T/C] JHU_1.62049855 1 62049856 [T/G] rs1933323 1 62050490 [T/G] JHU_1.62050913 1 62050914 [A/G] JHU_1.62052961 1 62052962 [T/C] rs12146046 1 62053168 [A/G] rs147084929 1 62053269 [T/C] rs2365263 1 62053966 [A/G] rs12143476 1 62059647 [T/C] JHU_1.62061807 1 62061808 [T/G] rs1565991 1 62062125 [A/T] rs2029857 1 62068302 [T/C] rs7519218 1 62068999 [A/G] rs17122491 1 62071712 [T/C] JHU_1.62073918 1 62073919 [T/A] JHU_1.62074815 1 62074816 [A/G] rs7543789 1 62074976 [A/G] JHU_1.62075060 1 62075061 [T/C] rs67987992 1 62075254 [T/C] JHU_1.62075812 1 62075813 [T/C] rs7545391 1 62078347 [T/C] rs12068634 1 62080228 [T/C] JHU_1.62080240 1 62080241 [A/G] rs6675169 1 62082312 [A/G] rs7530003 1 62082800 [A/G] JHU_1.62084921 1 62084922 [A/C] rs60613275 1 62087153 [A/G] rs4915595 1 62088632 [T/A] JHU_1.62088723 1 62088724 [C/G] rs79871547 1 62089189 [T/G] rs1933293 1 62089261 [T/C] rs1999881 1 62093288 [G/C] JHU_1.62096733 1 62096734 [T/G] rs12139976 1 62102307 [A/G] rs10889245 1 62103029 [A/G] JHU_1.62103501 1 62103502 [T/C] rs1933295 1 62107021 [A/G] JHU_1.62110297 1 62110298 [A/G] JHU_1.62110864 1 62110865 [A/G] rs1353423 1 62111010 [G/C] rs7551993 1 62112740 [A/G] rs72923653 1 62116391 [T/C] rs7532358 1 62120581 [A/G] NR_073400 MGC34796 EXON Silent JHU_1.62121191 1 62121192 [T/A] NR_073400 MGC34796 EXON Silent rs6700526 1 62121303 [T/C] NR_073400 MGC34796 EXON Silent rs6663424 1 62121416 [A/C] NR_073400 MGC34796 EXON Silent rs4915770 1 62124388 [A/G] rs11590517 1 62124585 [A/G] rs12145819 1 62125639 [A/G] rs11207801 1 62126262 [A/G] JHU_1.62126316 1 62126317 [T/C] rs58943177 1 62127698 [T/C] rs114196043 1 62128595 [A/G] JHU_1.62128896 1 62128897 [T/C] rs6587943 1 62129132 [A/G] rs6694023 1 62130167 [A/G] rs11207803 1 62130688 [A/G] rs2132391 1 62132046 [T/C] rs11207804 1 62134264 [T/C] rs12025892 1 62135768 [T/G] rs74076123 1 62136890 [A/G] rs72925623 1 62138154 [A/G] rs1390450 1 62140388 [A/G] rs79108549 1 62142827 [A/C] rs17122638 1 62144157 [T/C] rs11207808 1 62146438 [A/G] rs12030355 1 62148611 [A/G] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 Silent,Silent,Silent,Silent rs141297370 1 62149606 [A/G] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 Silent,Silent,Silent,Silent rs61770086 1 62151202 [A/C] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 Silent,Silent,Silent,Silent rs116826084 1 62159366 [T/C] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 Silent,Silent,Silent,Silent rs11207811 1 62165212 [A/C] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 Silent,Silent,Silent,Silent variant.3866 1 62166605 [A/C] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 Silent,Silent,Silent,Silent 1:62175002-CT 1 62175002 [T/C] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 EXON Silent,Silent,Missense_V116I,Silent 1:62189423-GA 1 62189423 [A/G] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 EXON Silent,Silent,Missense_T67M,Silent 1:62190408-G-A 1 62190408 [A/G] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 Silent,Silent,Silent,Silent 1:62190672-CT 1 62190672 [T/C] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 EXON Silent,Silent,Missense_G41R,Silent exm64294 1 62190717 [C/G] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 EXON Silent,Silent,Missense_V26L,Silent 1:62190831-CT 1 62190831 [T/C] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 EXON Silent,Silent,Silent,Silent chr1_62190912 1 62190912 [T/C] NR_135162,NR_135161,NM_032027,NR_135160 TM2D1,TM2D1,TM2D1,TM2D1 EXON Silent,Silent,Silent,Silent 1:62191321-T-C 1 62191321 [T/C] JHU_1.62191416 1 62191417 [T/A] rs12141280 1 62191459 [G/C] rs12738921 1 62204308 [A/G] JHU_1.62204948 1 62204949 [A/G] rs7551399 1 62207254 [A/G] rs6685551 1 62210481 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62212406 1 62212407 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs12408292 1 62212822 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62213025 1 62213026 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs7549691 1 62224365 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62224766 1 62224767 [T/A] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1151781 1 62225036 [T/A] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs11807037 1 62225073 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64308 1 62228696 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V12M,Missense_V12M 1:62228733-CAGG-C 1 62228733 [D/I] NM_176877,NM_001350145 PATJ,PATJ EXON 1:62228748-CT 1 62228748 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_T29M,Missense_T29M exm64312 1 62228751 [C/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_S30W,Missense_S30W exm64314 1 62228778 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Y39C,Missense_Y39C 1:62232000-AG 1 62232000 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_K80R,Missense_K80R exm64324 1 62232087 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_P109L,Missense_P109L 1:62232132-AG 1 62232132 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Q124R,Missense_Q124R 1:62234958-CT 1 62234958 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R130W,Missense_R130W exm64333 1 62235027 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R153G,Missense_R153G exm64335 1 62235069 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V167I,Missense_V167I indel.3867 1 62235088 [D/I] NM_176877,NM_001350145 PATJ,PATJ EXON rs72927689 1 62235247 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64341 1 62237224 [T/A] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I216F,Missense_I216F JHU_1.62237693 1 62237694 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs35737545 1 62238059 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs691032 1 62246895 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1954436 1 62248195 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs11207835 1 62248661 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs55870274 1 62249296 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62252384 1 62252385 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent chr1_62253433 1 62253433 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R286K,Missense_R286K exm64355 1 62253483 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G303R,Missense_G303R rs3762321 1 62253483 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G303R,Missense_G303R exm64356 1 62253546 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V324I,Missense_V324I rs142273680 1 62253583 [A/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_P336H,Missense_P336H exm64361 1 62253601 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_L342S,Missense_L342S JHU_1.62253790 1 62253791 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64365 1 62257036 [A/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_E362A,Missense_E362A exm64370 1 62257092 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V381I,Missense_V381I rs7516332 1 62261168 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I400V,Missense_I400V exm64373 1 62261168 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I400V,Missense_I400V exm64376 1 62261214 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_N415S,Missense_N415S indel.3871 1 62261229 [I/D] NM_176877,NM_001350145 PATJ,PATJ EXON 1:62262968-GA 1 62262968 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V424M,Missense_V424M rs4915778 1 62263416 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62265568 1 62265569 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent 1:62267297-AG 1 62267297 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_T469A,Missense_T469A exm64387 1 62267321 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_P477S,Missense_P477S rs138715610 1 62267355 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_E488G,Missense_E488G exm64389 1 62267355 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_E488G,Missense_E488G rs74076181 1 62270820 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1286831 1 62271962 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs144258512 1 62273568 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62280226 1 62280227 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62284278 1 62284279 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62284349 1 62284350 [C/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62284702 1 62284703 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62284991 1 62284992 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62285268 1 62285269 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62285283 1 62285284 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent 1:62288623-CT 1 62288623 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_P564S,Missense_P564S exm64399 1 62288689 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I586V,Missense_I586V rs1286812 1 62288730 [C/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Q599H,Missense_Q599H exm64400 1 62288730 [C/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Q599H,Missense_Q599H variant.3873 1 62288752 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent 1:62288962-A-C 1 62288962 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs75691994 1 62291679 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs201550049 1 62293185 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R637Q,Missense_R637Q rs116482077 1 62293930 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs34978776 1 62294004 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2185136 1 62294430 [C/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62294743 1 62294744 [A/T] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2211063 1 62294922 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs72674654 1 62296447 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64409 1 62299351 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_T669I,Missense_T669I exm64412 1 62299410 [G/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_L689V,Missense_L689V rs112976879 1 62299410 [G/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_L689V,Missense_L689V rs55975800 1 62302601 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs76555429 1 62302772 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs67058774 1 62305488 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1572670 1 62306819 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs72674663 1 62312100 [G/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2365498 1 62312654 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2799630 1 62313850 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs61770159 1 62317344 [C/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs114107892 1 62319921 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs78948710 1 62320395 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64422 1 62321856 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I756T,Missense_I756T exm64428 1 62327304 [G/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_D802H,Missense_D802H exm64436 1 62330062 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_M864I,Missense_M864I exm64438 1 62330080 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I870M,Missense_I870M 1:62330249-GA 1 62330249 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G927R,Missense_G927R exm64448 1 62330289 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Y940C,Missense_Y940C JHU_1.62330641 1 62330642 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs150065793 1 62331525 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs10157116 1 62332173 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62333547 1 62333548 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62334521 1 62334522 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62334613 1 62334614 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs6698337 1 62337807 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs4518937 1 62339160 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62339349 1 62339350 [T/A] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs12096192 1 62340726 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent 1:62340918-AG 1 62340918 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_K947E,Missense_K947E rs6685516 1 62342230 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent 1:62343546-T-C 1 62343546 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs58508468 1 62345228 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs7536985 1 62345486 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62345817 1 62345818 [G/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62347078 1 62347079 [T/A] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs58400512 1 62347819 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62348862 1 62348863 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm1852006 1 62350016 [C/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1023G,Missense_R1023G 1:62350079-TC 1 62350079 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_C1044R,Missense_C1044R JHU_1.62355782 1 62355783 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs9326052 1 62356590 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs12033338 1 62357287 [T/A] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs10889266 1 62357771 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs79442074 1 62358913 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62359945 1 62359946 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2498997 1 62363350 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent 1:62365256-GT 1 62365256 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Nonsense_E1045X,Nonsense_E1045X exm64469 1 62365276 [A/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_E1051D,Missense_E1051D JHU_1.62365434 1 62365435 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62365460 1 62365461 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62365709 1 62365710 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2499002 1 62366878 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64472 1 62366977 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_N1076S,Missense_N1076S rs199687516 1 62366979 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V1077M,Missense_V1077M 1:62367052-GT 1 62367052 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1101V,Missense_G1101V chr1_62367055 1 62367055 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I1102T,Missense_I1102T exm2233670 1 62367097 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_T1116M,Missense_T1116M JHU_1.62369024 1 62369025 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs72676251 1 62369314 [C/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs68030937 1 62370198 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62370759 1 62370760 [C/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs11207862 1 62372900 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs182287760 1 62374108 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1149E,Missense_G1149E 1:62374119-GT 1 62374119 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V1153L,Missense_V1153L rs186943456 1 62374119 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V1153L,Missense_V1153L variant.3876 1 62374152 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Nonsense_R1164X,Nonsense_R1164X exm64480 1 62374153 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1164Q,Missense_R1164Q rs1332636 1 62375977 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62377358 1 62377359 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62380157 1 62380158 [T/A] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64483 1 62380262 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_I1166V,Missense_I1166V JHU_1.62380269 1 62380270 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Synonymous_N1168N,Synonymous_N1168N 1:62380287-AG 1 62380287 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_N1174S,Missense_N1174S exm64488 1 62380298 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1178S,Missense_G1178S var_1_62380337 1 62380337 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62380442 1 62380443 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs11207865 1 62387652 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs60953856 1 62390370 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs114545438 1 62390554 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs12030195 1 62391043 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs4915790 1 62392494 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64493 1 62393420 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_P1197S,Missense_P1197S 1:62393490-CA 1 62393490 [A/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_A1220D,Missense_A1220D variant.3878 1 62393501 [A/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Q1224K,Missense_Q1224K variant.3879 1 62393502 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs373820860 1 62395380 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs10889271 1 62400487 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62400511 1 62400512 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62400777 1 62400778 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs11807297 1 62405873 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2482866 1 62406661 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs11585194 1 62422442 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs79114156 1 62424061 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62427657 1 62427658 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62434096 1 62434097 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2498968 1 62435141 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs76583303 1 62438893 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs80094395 1 62447689 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62448696 1 62448697 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs6668590 1 62449086 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs116686373 1 62452778 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62453110 1 62453111 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs3762447 1 62455744 [T/A] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent var_1_62455839 1 62455839 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent indel.3881 1 62455852 [I/D] NM_176877,NM_001350145 PATJ,PATJ EXON variant.3882 1 62455875 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Nonsense_E1236X,Nonsense_E1236X rs77717948 1 62455935 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_N1256D,Missense_N1256D exm64551 1 62455935 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_N1256D,Missense_N1256D rs182582824 1 62455950 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1261C,Missense_R1261C 1:62455998-GT 1 62455998 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_A1277S,Missense_A1277S exm64555 1 62456014 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1282H,Missense_R1282H rs202201982 1 62456019 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1284R,Missense_G1284R exm2273652 1 62456019 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1284R,Missense_G1284R rs116849354 1 62458265 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs10493316 1 62458463 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62464785 1 62464786 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs7526836 1 62468855 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62470232 1 62470233 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62472629 1 62472630 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1888984 1 62473982 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2183995 1 62479403 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs7547886 1 62482489 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64560 1 62483586 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_T1309I,Missense_T1309I rs75900825 1 62483586 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_T1309I,Missense_T1309I JHU_1.62483622 1 62483623 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs7528797 1 62483657 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62484461 1 62484462 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs6697273 1 62486381 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62491778 1 62491779 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1332630 1 62492215 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs72915880 1 62493837 [T/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1332631 1 62496360 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs7553347 1 62496592 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs72915883 1 62500387 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs7520924 1 62500555 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs147810353 1 62509116 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs17123003 1 62511367 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs13374203 1 62511933 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent 1:62516653-GA 1 62516653 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_E1350K,Missense_E1350K exm64568 1 62516683 [G/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V1360L,Missense_V1360L exm64569 1 62516703 [T/A] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Q1366H,Missense_Q1366H JHU_1.62517550 1 62517551 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs991007 1 62517947 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs138901394 1 62519824 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs115996779 1 62521739 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent 1:62524844-A-G 1 62524844 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2476186 1 62525779 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2476187 1 62528738 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs145544974 1 62530749 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs6674622 1 62534938 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs17123041 1 62535904 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs61777669 1 62539579 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent 1:62542504-C-T 1 62542504 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs3934216 1 62544813 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62548705 1 62548706 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64572 1 62550192 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_F1417V,Missense_F1417V exm64573 1 62550219 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_A1426T,Missense_A1426T rs201822318 1 62550238 [G/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_P1432R,Missense_P1432R rs17123057 1 62555219 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62556896 1 62556897 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62560279 1 62560280 [G/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs10127438 1 62560928 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs115611756 1 62561750 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs148562181 1 62565094 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent variant.3885 1 62566081 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62568572 1 62568573 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs111714231 1 62569951 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62571507 1 62571508 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62572991 1 62572992 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs191538411 1 62574133 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Y1468H,Missense_Y1468H exm1852889 1 62574133 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_Y1468H,Missense_Y1468H 1:62574175-GA 1 62574175 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1482S,Missense_G1482S rs199981703 1 62574193 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm1852890 1 62574193 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2476188 1 62575427 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs6688017 1 62575911 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1475566 1 62579437 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2476191 1 62579463 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs1475565 1 62579523 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64588 1 62579758 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_E1499K,Missense_E1499K 1:62579781-GT 1 62579781 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1506S,Missense_R1506S 1:62579834-GA 1 62579834 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1524Q,Missense_R1524Q 1:62579839-TGAG-T 1 62579839 [D/I] NM_176877,NM_001350145 PATJ,PATJ EXON rs12140153 1 62579891 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1543V,Missense_G1543V exm64596 1 62579891 [T/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1543V,Missense_G1543V exm64600 1 62579908 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V1549I,Missense_V1549I exm64601 1 62579917 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Nonsense_R1552X,Nonsense_R1552X exm64602 1 62579918 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1552Q,Missense_R1552Q rs12044746 1 62580201 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64607 1 62582212 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_S1555N,Missense_S1555N exm64608 1 62582235 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V1563M,Missense_V1563M 1:62582250-GA 1 62582250 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_A1568T,Missense_A1568T var_1_62582274 1 62582274 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Nonsense_Q1576X,Nonsense_Q1576X 1:62582277-GA 1 62582277 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1577R,Missense_G1577R exm64617 1 62582847 [G/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_A1616G,Missense_A1616G 1:62582897-GA 1 62582897 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs10889286 1 62586098 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent indel.3890 1 62586958 [I/D] NM_176877,NM_001350145 PATJ,PATJ EXON variant.3891 1 62588732 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62590935 1 62590936 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs72677960 1 62591428 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2760224 1 62592649 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent 1:62593650-AG 1 62593650 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_S1684G,Missense_S1684G 1:62593710-GA 1 62593710 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_V1704I,Missense_V1704I rs141549230 1 62593737 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1713R,Missense_G1713R exm64634 1 62593737 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_G1713R,Missense_G1713R exm64637 1 62593749 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1717W,Missense_R1717W exm64638 1 62593750 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_R1717Q,Missense_R1717Q rs2481664 1 62593893 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm-rs2481665 1 62594677 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62595058 1 62595059 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2476195 1 62596607 [G/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62597810 1 62597811 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62598296 1 62598297 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs6680526 1 62603544 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62606444 1 62606445 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2476197 1 62606693 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs75717958 1 62606736 [A/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62607839 1 62607840 [A/T] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2774932 1 62608613 [G/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent exm64652 1 62613986 [A/G] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_A1768T,Missense_A1768T exm64654 1 62614029 [T/C] NM_176877,NM_001350145 PATJ,PATJ EXON Missense_S1782L,Missense_S1782L rs72677979 1 62614340 [T/C] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs2666494 1 62614453 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs72677984 1 62617466 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs10889292 1 62618748 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent JHU_1.62625225 1 62625226 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs976574 1 62626371 [A/G] NM_176877,NM_001350145 PATJ,PATJ Silent,Silent rs17123164 1 62629658 [T/C] JHU_1.62630972 1 62630973 [T/C] JHU_1.62631410 1 62631411 [A/G] rs2481677 1 62632571 [A/G] rs72917693 1 62634989 [T/C] rs2666504 1 62635081 [T/C] rs2457832 1 62635116 [T/C] rs146462858 1 62635314 [A/G] JHU_1.62636657 1 62636658 [A/G] rs6587957 1 62636658 [A/G] rs2365987 1 62637994 [A/G] rs2260697 1 62638306 [A/C] rs12040893 1 62641484 [A/G] rs61775685 1 62642053 [A/G] JHU_1.62642064 1 62642065 [A/G] 1:62644118-AG 1 62644118 [A/G] rs12759978 1 62646182 [T/C] rs2366316 1 62648630 [A/C] rs12116810 1 62657530 [T/G] JHU_1.62664232 1 62664233 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 Silent,Silent 1:62672346-GA 1 62672346 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_A16T,Missense_A16T 1:62672365-TC 1 62672365 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_I22T,Missense_I22T exm64661 1 62672381 [A/T] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_R27S,Missense_R27S exm64663 1 62672415 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_P39S,Missense_P39S 1:62672446-CT 1 62672446 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_S49L,Missense_S49L indel.3900 1 62672472 [I/D] NM_001164835,NM_019079 L1TD1,L1TD1 EXON 1:62672498-TG 1 62672498 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_F66L,Missense_F66L rs2457829 1 62672546 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Synonymous_G82G,Synonymous_G82G indel.3901 1 62672566 [D/I] NM_001164835,NM_019079 L1TD1,L1TD1 EXON 1:62672619-AC 1 62672619 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_N107H,Missense_N107H exm64675 1 62672637 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_T113A,Missense_T113A variant.3903 1 62672751 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Nonsense_E151X,Nonsense_E151X variant.3904 1 62672796 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Nonsense_R166X,Nonsense_R166X 1:62672797-GA 1 62672797 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_R166Q,Missense_R166Q exm64681 1 62672812 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_M171T,Missense_M171T exm64685 1 62672889 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_R197G,Missense_R197G rs7542665 1 62673037 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_V246A,Missense_V246A exm64690 1 62673037 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_V246A,Missense_V246A exm64693 1 62673126 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_F276L,Missense_F276L 1:62673193-GA 1 62673193 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_S298N,Missense_S298N exm64695 1 62673225 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_V309M,Missense_V309M 1:62673225-GA 1 62673225 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_V309M,Missense_V309M exm64696 1 62673287 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_K329N,Missense_K329N rs12729017 1 62674507 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 Silent,Silent JHU_1.62674520 1 62674521 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 Silent,Silent rs11207932 1 62674547 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 Silent,Silent 1:62675643-TG 1 62675643 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_D399E,Missense_D399E exm2275456 1 62675667 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_E407D,Missense_E407D 1:62675692-GGAA-G 1 62675692 [I/D] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm64726 1 62675798 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_L451S,Missense_L451S indel.3910 1 62675808 [I/D] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm2252524 1 62675892 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Synonymous_E482E,Synonymous_E482E exm64733 1 62675894 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_E483G,Missense_E483G indel.3911 1 62675967 [D/I] NM_001164835,NM_019079 L1TD1,L1TD1 EXON 1:62676046-GA 1 62676046 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_E534K,Missense_E534K exm64741 1 62676091 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_P549T,Missense_P549T 1:62676104-TTA-T 1 62676104 [I/D] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm64744 1 62676188 [C/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_T581R,Missense_T581R 1:62676193-GA 1 62676193 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_V583I,Missense_V583I exm64746 1 62676205 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_K587Q,Missense_K587Q indel.3912 1 62676225 [D/I] NM_001164835,NM_019079 L1TD1,L1TD1 EXON chr1_62676247 1 62676248 [I/D] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm64748 1 62676284 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_T613I,Missense_T613I exm64749 1 62676329 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_I628R,Missense_I628R 1:62676341-TC 1 62676341 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_I632T,Missense_I632T 1:62676421-CA 1 62676421 [A/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_L659I,Missense_L659I indel.3916 1 62676617 [I/D] NM_001164835,NM_019079 L1TD1,L1TD1 EXON 1:62676659-TC 1 62676659 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_L738P,Missense_L738P exm64761 1 62676688 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_S748G,Missense_S748G exm2252525 1 62676714 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Synonymous_T756T,Synonymous_T756T newrs140559126 1 62676866 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Nonsense_W807X,Nonsense_W807X indel.3918 1 62676946 [D/I] NM_001164835,NM_019079 L1TD1,L1TD1 EXON exm64768 1 62676970 [A/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_S842G,Missense_S842G 1:62676991-TG 1 62676991 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_Y849D,Missense_Y849D exm64769 1 62676991 [T/G] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Missense_Y849D,Missense_Y849D rs12137401 1 62677050 [T/C] NM_001164835,NM_019079 L1TD1,L1TD1 EXON Silent,Silent JHU_1.62678554 1 62678555 [T/A] JHU_1.62680100 1 62680101 [A/G] JHU_1.62680717 1 62680718 [A/C] JHU_1.62685425 1 62685426 [A/G] rs181633620 1 62685838 [A/T] rs4019803 1 62687104 [A/G] JHU_1.62691375 1 62691376 [A/G] rs6683592 1 62692092 [A/G] rs55901108 1 62692191 [T/G] rs11577415 1 62693352 [T/C] rs61775733 1 62693361 [T/C] JHU_1.62695390 1 62695391 [A/C] JHU_1.62697383 1 62697384 [C/G] JHU_1.62701800 1 62701801 [A/G] exm64783 1 62703977 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_A987V,Missense_A359V exm64785 1 62704007 [T/A] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_M977K,Missense_M349K exm64787 1 62704029 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_A970T,Missense_A342T exm64789 1 62704046 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R964H,Missense_R336H rs11207944 1 62707613 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs2067994 1 62708339 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs6664672 1 62711941 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent exm64790 1 62713164 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_D955N,Missense_D327N exm64796 1 62713224 [C/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_V935L,Missense_V307L 1:62713286-GA 1 62713286 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_A914V,Missense_A286V rs12122645 1 62714918 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs4322258 1 62716161 [A/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs2457809 1 62716323 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62716381 1 62716382 [A/T] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62716852 1 62716853 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs61776870 1 62717796 [G/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent exm1853022 1 62718804 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_N873D,Missense_N245D 1:62718813-CT 1 62718813 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_A870T,Missense_A242T exm64809 1 62718880 [T/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Synonymous_G847G,Synonymous_G219G rs113560042 1 62724547 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs12062559 1 62724753 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs143191220 1 62726195 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62726833 1 62726834 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs2765241 1 62727596 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent exm64811 1 62728784 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_V840A,Missense_V212A exm64816 1 62728838 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_H822R,Missense_H194R exm64818 1 62728902 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_Y801H,Missense_Y173H rs2262110 1 62728918 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Synonymous_P795P,Synonymous_P167P JHU_1.62732356 1 62732357 [A/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent exm1853100 1 62732409 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_L772F,Missense_L144F rs11207949 1 62732421 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_T768A,Missense_T140A exm64827 1 62732421 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_T768A,Missense_T140A rs11579934 1 62732945 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent var_1_62733957 1 62733958 [D/I] NM_181712,NM_001320269 KANK4,KANK4 rs199995008 1 62733963 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_E743K,Missense_E115K exm64835 1 62733963 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_E743K,Missense_E115K 1:62734071-CT 1 62734071 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_V707I,Missense_V79I exm64843 1 62734089 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_G701S,Missense_G73S Variant12408 1 62734095 [I/D] NM_181712,NM_001320269 KANK4,KANK4 EXON exm64845 1 62734116 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_D692N,Missense_D64N 1:62734146-CT 1 62734146 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_G682S,Missense_G54S rs202231966 1 62734172 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_E673G,Missense_E45G exm1853113 1 62734172 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_E673G,Missense_E45G rs115596731 1 62734550 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs76337799 1 62734704 [A/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62736840 1 62736841 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent exm64853 1 62737151 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_G671R,Missense_G43R rs115329333 1 62737151 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_G671R,Missense_G43R exm64854 1 62737165 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_V666A,Missense_V38A 1:62737204-CT 1 62737204 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R653H,Missense_R25H exm64855 1 62737204 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R653H,Missense_R25H 1:62737249-GA 1 62737249 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_S638L,Missense_S10L rs11584786 1 62738077 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent exm64862 1 62738932 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_S615L,Silent 1:62739109-GA 1 62739109 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_T556M,Silent Variant37991 1 62739185 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_P531S,Silent exm64880 1 62739226 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R517K,Silent exm64885 1 62739302 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_H492Y,Silent 1:62739326-CT 1 62739326 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_E484K,Silent exm1853157 1 62739400 [A/T] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_D459V,Silent exm64892 1 62739433 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R448Q,Silent exm64899 1 62739542 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_V412M,Silent exm64901 1 62739547 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_T410M,Silent 1:62739622-CT 1 62739622 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R385Q,Silent 1:62739641-CT 1 62739641 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_A379T,Silent exm64908 1 62739719 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_E353K,Silent exm64909 1 62739727 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_S350L,Silent exm64910 1 62739761 [T/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_P339T,Silent exm64911 1 62739769 [A/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R336M,Silent exm64912 1 62739801 [G/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_I325M,Silent Variant12409 1 62739858 [D/I] NM_181712,NM_001320269 KANK4,KANK4 EXON rs72925715 1 62739919 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_P286L,Silent exm64920 1 62739928 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_T283M,Silent 1:62739956-CT 1 62739956 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_E274K,Silent exm64924 1 62739979 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_D266G,Silent exm64925 1 62740027 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_P250L,Silent exm64944 1 62740264 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_H171R,Silent rs143615165 1 62740400 [T/A] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_S126C,Silent exm2233682 1 62740400 [T/A] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_S126C,Silent 1:62740432-GA 1 62740432 [A/G] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_A115V,Silent 1:62740486-CT 1 62740486 [T/C] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_R97K,Silent rs189385854 1 62740606 [T/A] NM_181712,NM_001320269 KANK4,KANK4 EXON Missense_I57N,Silent rs2666508 1 62740930 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs12138544 1 62743398 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs75033759 1 62744363 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62746614 1 62746615 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs2765255 1 62753383 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62753800 1 62753801 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs7521016 1 62755800 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62756203 1 62756204 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs78672243 1 62756204 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs4915811 1 62758183 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs12082238 1 62760625 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs4915606 1 62761852 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs6704270 1 62761907 [A/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs12082623 1 62764478 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs1886834 1 62765049 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs75330868 1 62767209 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs12037499 1 62767953 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs17123425 1 62770334 [A/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62770962 1 62770963 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs10157938 1 62771408 [C/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62773169 1 62773170 [A/T] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs115942954 1 62774403 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62774402 1 62774403 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62774622 1 62774623 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs34196591 1 62774868 [T/C] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs2366208 1 62776978 [T/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs12758910 1 62778382 [T/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62779554 1 62779555 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs12725797 1 62779555 [A/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent rs1107694 1 62781780 [C/G] NM_181712,NM_001320269 KANK4,KANK4 Silent,Silent JHU_1.62786108 1 62786109 [A/C] rs61776902 1 62786870 [G/C] JHU_1.62786932 1 62786933 [T/C] rs4915818 1 62788511 [T/C] JHU_1.62791268 1 62791269 [T/C] rs2366210 1 62791745 [A/G] rs74078545 1 62798968 [T/C] JHU_1.62799812 1 62799813 [C/G] rs6699436 1 62803032 [A/G] rs6690755 1 62803211 [T/C] JHU_1.62804458 1 62804459 [A/G] JHU_1.62804516 1 62804517 [C/G] JHU_1.62804544 1 62804545 [T/G] JHU_1.62805138 1 62805139 [C/G] JHU_1.62805317 1 62805318 [A/T] rs6701864 1 62807045 [T/C] JHU_1.62807535 1 62807536 [T/G] rs12403723 1 62808765 [A/G] rs115479494 1 62809053 [T/C] JHU_1.62812717 1 62812718 [T/C] rs76644213 1 62813055 [A/G] rs4915613 1 62813074 [T/C] rs7541112 1 62819067 [A/G] rs17123515 1 62819099 [G/C] JHU_1.62822697 1 62822698 [A/G] rs3861941 1 62824790 [T/C] JHU_1.62825103 1 62825104 [A/G] JHU_1.62825158 1 62825159 [T/G] rs72667308 1 62825159 [T/G] JHU_1.62828790 1 62828791 [A/C] JHU_1.62829021 1 62829022 [T/C] JHU_1.62829075 1 62829076 [T/G] JHU_1.62830302 1 62830303 [A/C] JHU_1.62835935 1 62835936 [T/C] rs6587971 1 62836976 [T/C] rs149983669 1 62838847 [A/G] 1:62842573-A-G 1 62842573 [A/G] rs3949904 1 62848090 [A/G] rs61614922 1 62853117 [T/C] rs2094122 1 62854591 [T/C] rs2366488 1 62854642 [A/C] rs76391267 1 62863248 [T/C] rs147904884 1 62866328 [T/G] rs1413821 1 62866390 [T/C] rs4439380 1 62866854 [A/G] rs945171 1 62867651 [T/C] rs10889328 1 62867790 [T/G] rs78785902 1 62869460 [A/G] 1:62870766-A-C 1 62870766 [A/C] JHU_1.62871082 1 62871083 [A/G] JHU_1.62871277 1 62871278 [T/G] JHU_1.62878357 1 62878358 [T/C] rs185380006 1 62879749 [T/G] rs145871594 1 62892057 [T/A] rs190133797 1 62892431 [A/C] rs635897 1 62896419 [A/C] rs184720256 1 62896530 [A/G] JHU_1.62896752 1 62896753 [T/C] rs10493324 1 62898142 [T/C] rs17426756 1 62898890 [A/C] rs631106 1 62901807 [A/C] JHU_1.62903395 1 62903396 [T/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 Silent,Silent,Silent 1:62903546-T-C 1 62903546 [T/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 Silent,Silent,Silent exm64965 1 62905542 [T/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_P2S,Missense_P2S,Missense_P2S 1:62907176-CT 1 62907176 [T/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_A63V,Missense_A63V,Missense_A63V exm64979 1 62907214 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_N76D,Missense_N76D,Missense_N76D exm64986 1 62908939 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_K169R,Missense_K169R,Missense_K169R exm2233685 1 62910612 [T/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_M254R,Missense_M254R,Missense_M254R 1:62910710-TC 1 62910710 [T/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_S287P,Missense_S287P,Missense_S287P 1:62910813-AG 1 62910813 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_Y321C,Missense_Y321C,Missense_Y321C exm65006 1 62910943 [C/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_N364K,Missense_N364K,Missense_N364K exm65010 1 62910981 [T/A] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_D377V,Missense_D377V,Missense_D377V 1:62911044-CA 1 62911044 [A/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_S398Y,Missense_S398Y,Missense_S398Y exm65013 1 62911046 [T/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_P399S,Missense_P399S,Missense_P399S JHU_1.62911306 1 62911307 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 Silent,Silent,Silent 1:62911926-T-G 1 62911926 [T/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 Silent,Silent,Silent exm65018 1 62914153 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_T480A,Missense_T480A,Missense_T480A exm65023 1 62915972 [G/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_L560V,Missense_L560V,Missense_L560V indel.3927 1 62916094 [I/D] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON 1:62916230-AG 1 62916230 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_I646V,Missense_I646V,Missense_I646V exm65031 1 62916290 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_I666V,Missense_I666V,Missense_I666V 1:62916413-AG 1 62916413 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_T707A,Missense_T707A,Missense_T707A exm1854373 1 62916503 [A/G] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_V737M,Missense_V737M,Missense_V737M 1:62916606-CT 1 62916606 [T/C] NM_001017415,NM_001017416,NM_003368 USP1,USP1,USP1 EXON Missense_T771I,Missense_T771I,Missense_T771I rs12092541 1 62917913 [A/G] rs77061757 1 62920326 [T/C] rs201452223 1 62921101 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_R2127H,Missense_R2096H,Missense_R2094H,Missense_R2125H,Missense_R2105H 1KG_1_62921149 1 62921149 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 indel.3930 1 62921154 [I/D] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 rs3913007 1 62921586 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65053 1 62923219 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_T2115P,Missense_T2084P,Missense_T2082P,Missense_T2113P,Missense_T2093P JHU_1.62923333 1 62923334 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Synonymous_P2076P,Synonymous_P2045P,Synonymous_P2043P,Synonymous_P2074P,Synonymous_P2054P JHU_1.62925824 1 62925825 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs1167998 1 62931632 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm-rs1167998 1 62931632 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent JHU_1.62945221 1 62945222 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs192716841 1 62949888 [A/T] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62949960-T-C 1 62949960 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65097 1 62953070 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_E1827G,Missense_E1796G,Silent,Silent,Missense_E1805G 1:62953183-C-T 1 62953183 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62953373-G-A 1 62953373 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62957030-G-A 1 62957030 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62957128-T-C 1 62957128 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62957199-C-G 1 62957199 [G/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs191312236 1 62960061 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_R1692Q,Missense_R1661Q,Missense_R1661Q,Missense_R1692Q,Missense_R1670Q 1:62960101-A-G 1 62960101 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Synonymous_L1679L,Synonymous_L1648L,Synonymous_L1648L,Synonymous_L1679L,Synonymous_L1657L 1:62960250-T-C 1 62960250 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent JHU_1.62960288 1 62960289 [C/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62960289-G-C 1 62960289 [C/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62960575-T-C 1 62960575 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent JHU_1.62960767 1 62960768 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65118 1 62962089 [T/A] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_F1606Y,Missense_F1575Y,Missense_F1575Y,Missense_F1606Y,Missense_F1584Y rs1168037 1 62962423 [C/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62962734-A-G 1 62962734 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62963914-G-C 1 62963914 [C/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent JHU_1.62965620 1 62965621 [A/T] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62967747-A-G 1 62967747 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62967987-C-T 1 62967987 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62968491-C-T 1 62968491 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62970184-T-C 1 62970184 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62970348-TC 1 62970348 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_S1564G,Missense_S1533G,Missense_S1533G,Missense_S1564G,Missense_S1542G exm65125 1 62970369 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_G1557S,Missense_G1526S,Missense_G1526S,Missense_G1557S,Missense_G1535S 1:62970389-CT 1 62970389 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_R1550Q,Missense_R1519Q,Missense_R1519Q,Missense_R1550Q,Missense_R1528Q 1:62970413-GA 1 62970413 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_A1542V,Missense_A1511V,Missense_A1511V,Missense_A1542V,Missense_A1520V 1:62970996-T-C 1 62970996 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent chr1_62971450 1 62971450 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_G1496D,Missense_G1465D,Missense_G1465D,Missense_G1496D,Missense_G1474D 1:62971474-GA 1 62971474 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_T1488M,Missense_T1457M,Missense_T1457M,Missense_T1488M,Missense_T1466M 1:62973694-TC 1 62973694 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_D1463G,Missense_D1432G,Missense_D1432G,Missense_D1463G,Missense_D1441G 1:62973795-A-G 1 62973795 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62974150-A-T 1 62974150 [A/T] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62974459-TTTAC-T 1 62974459 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 1:62974656-T-C 1 62974656 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62976751-G-A 1 62976751 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62977558-A-C 1 62977558 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent variant.3931 1 62979137 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Silent,Silent,Silent,Silent,Synonymous_T1389T 1:62980161-A-G 1 62980161 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent JHU_1.62980160 1 62980161 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62980400-CACA-C 1 62980400 [I/D] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 rs10889337 1 62980607 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62983693-A-C 1 62983693 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62983751-C-T 1 62983751 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62984897-C-T 1 62984897 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62986955-C-T 1 62986955 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62987289-T-C 1 62987289 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62988972-T-C 1 62988972 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62989807-C-T 1 62989807 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62990309-C-T 1 62990309 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62991369-T-C 1 62991369 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62991383-C-T 1 62991383 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62991905-T-C 1 62991905 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62992749-T-C 1 62992749 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62993620-T-C 1 62993620 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65153 1 62993823 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_T1312M,Missense_T1281M,Missense_T1281M,Missense_T1312M,Missense_T1281M 1:62996046-C-G 1 62996046 [C/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62996838-C-G 1 62996838 [C/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent JHU_1.62999236 1 62999237 [C/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:62999595-C-G 1 62999595 [G/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent JHU_1.62999674 1 62999675 [G/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63001120-A-C 1 63001120 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63001233-CT 1 63001233 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_R1181H,Missense_R1150H,Missense_R1150H,Missense_R1181H,Missense_R1150H 1:63002551-A-G 1 63002551 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63003587-GT 1 63003587 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_P1149H,Missense_P1118H,Missense_P1118H,Missense_P1149H,Missense_P1118H 1:63004393-T-C 1 63004393 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63004999-C-T 1 63004999 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63006595-A-T 1 63006595 [T/A] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63006842-A-C 1 63006842 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs76755357 1 63008174 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63008190-G-T 1 63008190 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63008331-CT 1 63008331 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_G998D,Missense_G967D,Missense_G967D,Missense_G998D,Missense_G967D exm65188 1 63009368 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_S970G,Missense_S939G,Missense_S939G,Missense_S970G,Missense_S939G 1:63009900-A-G 1 63009900 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63009956-C-T 1 63009956 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63010110-G-C 1 63010110 [C/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63010649-GA 1 63010649 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_S943F,Silent,Silent,Missense_S943F,Silent 1:63010710-CA 1 63010710 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_G923C,Silent,Silent,Missense_G923C,Silent 1:63010871-T-C 1 63010871 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63012056-A-G 1 63012056 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63012071-A-C 1 63012071 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63012107-C-T 1 63012107 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63013134-A-G 1 63013134 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63013396-C-T 1 63013396 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs140775907 1 63013471 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63013786-A-G 1 63013786 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63015199-A-T 1 63015199 [A/T] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63018170-T-C 1 63018170 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65198 1 63018549 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_V874M,Missense_V874M,Missense_V874M,Missense_V874M,Missense_V874M exm65200 1 63018564 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_G869S,Missense_G869S,Missense_G869S,Missense_G869S,Missense_G869S rs10159255 1 63020816 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs56285615 1 63021271 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65202 1 63021514 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_P860T,Missense_P860T,Missense_P860T,Missense_P860T,Missense_P860T exm65208 1 63021621 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_I824T,Missense_I824T,Missense_I824T,Missense_I824T,Missense_I824T rs17381383 1 63022004 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63024812-CT 1 63024812 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_R760Q,Missense_R760Q,Missense_R760Q,Missense_R760Q,Missense_R760Q 1:63024857-TC 1 63024857 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_N745S,Missense_N745S,Missense_N745S,Missense_N745S,Missense_N745S exm-rs2131925 1 63025942 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs2131925 1 63025942 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63026011-C-T 1 63026011 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63026429-T-G 1 63026429 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63027024-C-T 1 63027024 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63034363-A-C 1 63034363 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63037837-C-T 1 63037837 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63038304-TGG-T 1 63038304 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 rs148015742 1 63040124 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63041086-T-C 1 63041086 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63041800-T-G 1 63041800 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63042126-A-G 1 63042126 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent chr1_63043010 1 63043010 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_R679W,Missense_R679W,Missense_R679W,Missense_R679W,Missense_R679W exm65230 1 63043025 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_M674V,Missense_M674V,Missense_M674V,Missense_M674V,Missense_M674V indel.3936 1 63044586 [I/D] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON 1:63045506-A-C 1 63045506 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63046039-T-C 1 63046039 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63048277-A-C 1 63048277 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs11207995 1 63049551 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm-rs1748195 1 63049593 [C/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs1748195 1 63049593 [C/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent 1:63049819-G-A 1 63049819 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Silent,Silent,Silent,Silent,Silent,Silent 1:63050510-GA 1 63050510 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Silent,Silent,Silent,Silent,Silent,Missense_L614F 1:63050598-T-G 1 63050598 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63051688-C-T 1 63051688 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent exm65235 1 63052178 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Synonymous_P600P,Synonymous_P600P,Synonymous_P600P,Synonymous_P600P,Synonymous_P600P,Synonymous_P600P exm65238 1 63052222 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_K586E,Missense_K586E,Missense_K586E,Missense_K586E,Missense_K586E,Missense_K586E rs12048208 1 63055280 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63055470-G-A 1 63055470 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63056112-G-A 1 63056112 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63057136-T-C 1 63057136 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63060311-A-C 1 63060311 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63060758 1 63060759 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs17123721 1 63061242 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63061906-C-T 1 63061906 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63063291-GA-G 1 63063291 [I/D] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON 1:63063313-TC 1 63063313 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_F26L 1:63063361-GA 1 63063361 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_D42N Variant48541 1 63063425 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_K63T newrs139334976 1 63063509 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_E91G 1:63063515-AAAG-A 1 63063515 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON 1KG_1_63063592 1 63063593 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON exm65257 1 63063616 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L127F 1:63063622-G-T 1 63063622 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_E129X Variant15915 1 63063668 [I/D] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON exm65259 1 63063688 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_N151D exm65261 1 63064415 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_V182M exm2273653 1 63064458 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_I196T 1:63067438-AC 1 63067438 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:63067454-TC 1 63067454 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_C246R exm65273 1 63067475 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G253C exm65274 1 63067484 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_T256A exm1855540 1 63067494 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_M259T Variant48545 1 63067983 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R288Q exm65276 1 63067994 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S292P 1:63068003-T-C 1 63068003 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_F295L JHU_1.63068298 1 63068299 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72641123 1 63068478 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs35285100 1 63069157 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm65277 1 63069703 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R332Q exm65281 1 63069736 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_H343R variant.3946 1 63069749 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_Y347X variant.3947 1 63069904 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_S399X 1:63069907-G-T 1 63069907 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.3948 1 63070316 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_W404X 1:63070386-AGAG-A 1 63070386 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON 1:63070538-AGTTAATGTG-A 1 63070538 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON rs10789117 1 63072265 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63073113-C-T 1 63073113 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63073975-C-T 1 63073975 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63074442-C-A 1 63074442 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63074528-CTCAT-C 1 63074528 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 1:63075123-C-T 1 63075123 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63075826-G-A 1 63075826 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63078222-A-T 1 63078222 [T/A] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63078676-A-G 1 63078676 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs375154663 1 63079163 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs76054108 1 63079414 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs2031373 1 63083289 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63084030-G-A 1 63084030 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs142744313 1 63084474 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F exm65306 1 63084474 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F 1:63085266-C-T 1 63085266 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs72913293 1 63085630 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R exm65311 1 63085630 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R variant.3951 1 63085665 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63090858-C-T 1 63090858 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63090976-GA 1 63090976 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_T460M,Missense_T460M,Missense_T460M,Missense_T460M,Missense_T460M,Missense_T460M 1:63091471-G-C 1 63091471 [G/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63092886-G-A 1 63092886 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63093617-C-T 1 63093617 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63093662-GT-G 1 63093662 [I/D] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 1:63094207-A-G 1 63094207 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63094692-A-G 1 63094692 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63095677-C-T 1 63095677 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63095711-C-T 1 63095711 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent exm65326 1 63096928 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_V422A,Missense_V422A,Missense_V422A,Missense_V422A,Missense_V422A,Missense_V422A 1:63097051-TC 1 63097051 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_K381R,Missense_K381R,Missense_K381R,Missense_K381R,Missense_K381R,Missense_K381R 1:63097424-A-AG 1 63097424 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 1:63098235-G-A 1 63098235 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63099023-T-C 1 63099023 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63099577-G-A 1 63099577 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs41290148 1 63102007 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63102540 1 63102541 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63102541-T-G 1 63102541 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63103217-A-G 1 63103217 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63105538-T-C 1 63105538 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63106175-AAAGC-A 1 63106175 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 1:63106767-C-A 1 63106767 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63107526-C-T 1 63107526 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs17123737 1 63108357 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63108374-A-G 1 63108374 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63108681-AAGGCCACAAG-A 1 63108681 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 1:63111069-G-T 1 63111069 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63112320-C-G 1 63112320 [G/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63112389-A-G 1 63112389 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs80242442 1 63112605 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63113511-C-A 1 63113511 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63113719-T-C 1 63113719 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent exm65345 1 63113853 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_I219T,Missense_I219T,Missense_I219T,Missense_I219T,Missense_I219T,Missense_I219T exm65347 1 63113968 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_M181V,Missense_M181V,Missense_M181V,Missense_M181V,Missense_M181V,Missense_M181V 1:63114118-CA 1 63114118 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_A163S,Missense_A163S,Missense_A163S,Missense_A163S,Missense_A163S,Missense_A163S 1:63114121-CA 1 63114121 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Nonsense_E162X,Nonsense_E162X,Nonsense_E162X,Nonsense_E162X,Nonsense_E162X,Nonsense_E162X 1:63114157-GT 1 63114157 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_Q150K,Missense_Q150K,Missense_Q150K,Missense_Q150K,Missense_Q150K,Missense_Q150K 1:63116041-G-T 1 63116041 [T/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63116042-GA-G 1 63116042 [I/D] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 JHU_1.63117183 1 63117184 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs10889353 1 63118196 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent exm-rs10889353 1 63118196 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63119256-T-C 1 63119256 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63119436-TC 1 63119436 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_I117V,Missense_I117V,Missense_I117V,Missense_I117V,Missense_I117V,Missense_I117V 1:63119694-CT 1 63119694 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_R94Q,Missense_R94Q,Missense_R94Q,Missense_R94Q,Missense_R94Q,Missense_R94Q 1:63119719-CT 1 63119719 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_D86N,Missense_D86N,Missense_D86N,Missense_D86N,Missense_D86N,Missense_D86N exm2233691 1 63119791 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_D62N,Missense_D62N,Missense_D62N,Missense_D62N,Missense_D62N,Missense_D62N JHU_1.63120156 1 63120157 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63120371-C-T 1 63120371 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63122859-C-A 1 63122859 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63127705-C-T 1 63127705 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63128080 1 63128081 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63128081-C-T 1 63128081 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent exm65360 1 63128715 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_N42S,Missense_N42S,Missense_N42S,Missense_N42S,Missense_N42S,Missense_N42S 1:63129082-T-C 1 63129082 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63129825-T-C 1 63129825 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63129824 1 63129825 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63130431-C-T 1 63130431 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63130525-G-A 1 63130525 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63130991-G-A 1 63130991 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63132530 1 63132531 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63133411-G-A 1 63133411 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs4587594 1 63133930 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63135127-G-A 1 63135127 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63139730-C-T 1 63139730 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent rs117679062 1 63140374 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63141967-C-T 1 63141967 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63142225 1 63142226 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63144609 1 63144610 [T/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63145439-G-A 1 63145439 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63149353-C-A 1 63149353 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent,Silent 1:63153200-TCAGAA-T 1 63153200 [D/I] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 1:63153914-CA 1 63153914 [A/C] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_A8S,Missense_A8S,Missense_A8S,Missense_A8S,Missense_A8S,Missense_A8S 1:63153926-GA 1 63153926 [A/G] NM_001330614,NM_001272000,NM_001272001,NM_001271999,NM_033407,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_R4C,Missense_R4C,Missense_R4C,Missense_R4C,Missense_R4C,Missense_R4C 1:63154675-A-G 1 63154675 [A/G] 1:63155349-G-A 1 63155349 [A/G] 1:63156043-A-G 1 63156043 [A/G] 1:63156098-T-C 1 63156098 [T/C] JHU_1.63156558 1 63156559 [C/G] rs140396141 1 63157565 [T/C] 1:63159213-TA-T 1 63159213 [I/D] 1:63161173-A-T 1 63161173 [T/A] 1:63163073-T-C 1 63163073 [T/C] 1:63171063-C-T 1 63171063 [T/C] 1:63173220-C-T 1 63173220 [T/C] 1:63173284-C-T 1 63173284 [T/C] 1:63173918-C-T 1 63173918 [T/C] 1:63176083-A-T 1 63176083 [T/A] 1:63177365-C-T 1 63177365 [T/C] 1:63179138-C-T 1 63179138 [T/C] 1:63179212-G-A 1 63179212 [A/G] 1:63179705-A-G 1 63179705 [A/G] 1:63180036-G-C 1 63180036 [C/G] 1:63181548-G-A 1 63181548 [A/G] 1:63182135-C-T 1 63182135 [T/C] JHU_1.63183296 1 63183297 [A/G] 1:63186215-A-C 1 63186215 [A/C] 1:63188086-C-A 1 63188086 [A/C] rs138020000 1 63189739 [A/C] 1:63190794-T-G 1 63190794 [T/G] 1:63191565-G-A 1 63191565 [A/G] rs4915853 1 63191577 [A/C] exm-rs12130333 1 63191777 [T/C] 1:63193270-A-C 1 63193270 [A/C] 1:63193913-T-A 1 63193913 [T/A] 1:63193977-G-A 1 63193977 [A/G] 1:63194009-C-T 1 63194009 [T/C] 1:63195692-C-T 1 63195692 [T/C] rs78505995 1 63197952 [A/G] rs4630152 1 63199272 [T/C] 1:63199348-TG-T 1 63199348 [D/I] rs6679002 1 63199936 [T/G] 1:63199936-G-T 1 63199936 [T/G] rs60070499 1 63199970 [T/A] 1:63201440-G-A 1 63201440 [A/G] exm2260537 1 63201577 [A/G] rs72915165 1 63202171 [T/C] 1:63203221-T-C 1 63203221 [T/C] 1:63203906-G-A 1 63203906 [A/G] rs12129277 1 63211706 [T/C] 1:63213759-A-G 1 63213759 [A/G] rs6698990 1 63221167 [A/G] rs6663281 1 63221191 [T/C] JHU_1.63229974 1 63229975 [T/C] rs11807368 1 63231401 [T/G] JHU_1.63232544 1 63232545 [T/G] 1:63243497-C-T 1 63243497 [T/C] 1:63245204-T-C 1 63245204 [T/C] rs12116825 1 63245712 [A/G] rs17123830 1 63248080 [A/G] 1:63250003-C-T 1 63250003 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent JHU_1.63252214 1 63252215 [A/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent rs6587988 1 63252766 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent JHU_1.63253215 1 63253216 [A/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent JHU_1.63254364 1 63254365 [A/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63254881-C-G 1 63254881 [G/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent JHU_1.63261651 1 63261652 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63261652-A-G 1 63261652 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63262083-A-G 1 63262083 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63262291-C-T 1 63262291 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent rs144204398 1 63263948 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63266810-G-A 1 63266810 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent indel.3952 1 63269478 [D/I] NM_032852,NM_178221 ATG4C,ATG4C EXON rs59853975 1 63270054 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63270858-CA 1 63270858 [A/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_T31K,Missense_T31K exm65374 1 63270864 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_T33M,Missense_T33M rs142597779 1 63272921 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63273529-C-T 1 63273529 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63276972-A-G 1 63276972 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent JHU_1.63281098 1 63281099 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent rs149917534 1 63282121 [T/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63282274-CG-C 1 63282274 [D/I] NM_032852,NM_178221 ATG4C,ATG4C EXON exm65382 1 63282309 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_N75S,Missense_N75S exm65384 1 63282324 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_R80H,Missense_R80H indel.3957 1 63282435 [I/D] NM_032852,NM_178221 ATG4C,ATG4C EXON exm65394 1 63282474 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_G130D,Missense_G130D rs79210854 1 63284454 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent exm65395 1 63284676 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_A132V,Missense_A132V 1:63284744-AC 1 63284744 [A/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_K155Q,Missense_K155Q chr1_63284745 1 63284745 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_K155R,Missense_K155R 1:63284819-GA 1 63284819 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_E180K,Missense_E180K newrs34243881 1 63284886 [I/D] NM_032852,NM_178221 ATG4C,ATG4C EXON 1:63284901-CT 1 63284901 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_S207F,Missense_S207F 1:63284934-TC 1 63284934 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_I218T,Missense_I218T rs11208039 1 63286222 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63286437-T-C 1 63286437 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent rs57885631 1 63289573 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63289623-T-C 1 63289623 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1:63289831-A-G 1 63289831 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent JHU_1.63295549 1 63295550 [T/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent 1KG_1_63299729 1 63299729 [D/I] NM_032852,NM_178221 ATG4C,ATG4C EXON var_1_63299729 1 63299730 [D/I] NM_032852,NM_178221 ATG4C,ATG4C EXON 1:63299751-AC 1 63299751 [A/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_K326Q,Missense_K326Q indel.3964 1 63300483 [I/D] NM_032852,NM_178221 ATG4C,ATG4C EXON rs10493327 1 63303845 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent exm65423 1 63307121 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_K371R,Missense_K371R 1:63307131-CT-C 1 63307131 [I/D] NM_032852,NM_178221 ATG4C,ATG4C EXON 1:63307160-TC 1 63307160 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_I384T,Missense_I384T exm65426 1 63307174 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_R389X,Nonsense_R389X newrs142574206 1 63307174 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_R389X,Nonsense_R389X variant.3966 1 63307195 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_R396X,Nonsense_R396X JHU_1.63310443 1 63310444 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent rs11208047 1 63311836 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent JHU_1.63316516 1 63316517 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent JHU_1.63316575 1 63316576 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent JHU_1.63327298 1 63327299 [G/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent JHU_1.63329050 1 63329051 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent exm65432 1 63329777 [T/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_D442Y,Missense_D442Y exm65434 1 63329784 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_K444R,Missense_K444R exm65435 1 63329789 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_Q446X,Nonsense_Q446X exm65436 1 63329808 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_T452M,Missense_T452M rs11208050 1 63336271 [T/C] exm2264846 1 63346976 [A/G] JHU_1.63351600 1 63351601 [T/C] JHU_1.63353334 1 63353335 [T/C] JHU_1.63354261 1 63354262 [A/G] rs12751505 1 63361221 [T/C] rs12137912 1 63362324 [A/G] JHU_1.63362825 1 63362826 [T/G] rs2803241 1 63368318 [A/C] JHU_1.63368349 1 63368350 [A/G] rs76914860 1 63368571 [A/C] rs7520254 1 63371902 [A/C] rs6657471 1 63376404 [A/C] rs114381771 1 63376707 [T/C] rs140648651 1 63381396 [A/G] JHU_1.63381740 1 63381741 [A/G] JHU_1.63382832 1 63382833 [A/G] rs117003677 1 63385010 [G/C] JHU_1.63385068 1 63385069 [A/G] rs77416037 1 63387698 [G/C] rs74910809 1 63390199 [T/C] JHU_1.63391603 1 63391604 [T/C] rs17124052 1 63396116 [T/C] rs12024707 1 63396290 [A/G] rs12134779 1 63396342 [T/C] rs79144833 1 63401614 [A/G] JHU_1.63401749 1 63401750 [A/G] rs7532163 1 63401945 [T/C] rs1360679 1 63402478 [A/G] JHU_1.63402705 1 63402706 [G/C] JHU_1.63403123 1 63403124 [C/G] rs2254118 1 63403861 [T/C] JHU_1.63403916 1 63403917 [T/C] rs2780881 1 63405189 [A/C] rs1572109 1 63406451 [T/C] JHU_1.63411310 1 63411311 [A/T] JHU_1.63414286 1 63414287 [A/G] rs2065585 1 63414401 [A/G] JHU_1.63416224 1 63416225 [T/G] rs74612369 1 63416810 [A/C] rs1333731 1 63417567 [T/C] rs74079331 1 63421108 [T/C] rs12085672 1 63421660 [A/G] rs78419150 1 63429927 [C/G] rs74077409 1 63433109 [T/G] JHU_1.63435794 1 63435795 [A/G] rs72671741 1 63445097 [G/C] rs6587999 1 63446511 [A/G] rs6662502 1 63446754 [T/G] rs6683386 1 63452363 [T/C] rs6696216 1 63452419 [T/C] JHU_1.63454596 1 63454597 [T/C] JHU_1.63455088 1 63455089 [C/G] rs4915860 1 63455413 [T/C] JHU_1.63455433 1 63455434 [T/C] rs4915629 1 63457362 [T/G] rs17124195 1 63457590 [A/G] rs72919199 1 63457866 [A/C] rs10465807 1 63460652 [A/T] JHU_1.63461145 1 63461146 [T/C] JHU_1.63461940 1 63461941 [A/G] JHU_1.63461950 1 63461951 [T/C] rs141505307 1 63463121 [T/C] rs76505215 1 63463247 [T/C] rs17124210 1 63465487 [T/C] rs12563233 1 63467308 [T/G] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs66675624 1 63467388 [T/C] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent JHU_1.63469110 1 63469111 [A/G] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs72671747 1 63469443 [T/C] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs2150030 1 63470519 [T/C] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs7541113 1 63471285 [A/G] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs7518679 1 63471404 [T/C] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs116214166 1 63472635 [A/G] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent JHU_1.63472973 1 63472974 [T/C] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs4915864 1 63475829 [T/C] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs12021818 1 63476135 [A/C] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent rs79301079 1 63476453 [T/C] NR_146607,NR_146606,NR_146605 LINC01739,LINC01739,LINC01739 Silent,Silent,Silent JHU_1.63477899 1 63477900 [T/C] NR_146606 LINC01739 Silent rs7541201 1 63478358 [A/G] exm-rs17124318 1 63480730 [C/G] JHU_1.63483171 1 63483172 [T/C] rs10158083 1 63483295 [T/C] rs7543094 1 63484149 [T/C] JHU_1.63485292 1 63485293 [A/G] rs182700471 1 63486375 [T/C] rs713311 1 63486692 [T/C] JHU_1.63487690 1 63487691 [T/C] rs11808188 1 63488074 [T/C] rs4915866 1 63488228 [T/G] JHU_1.63488731 1 63488732 [A/G] rs72921168 1 63490314 [T/C] JHU_1.63491738 1 63491739 [A/G] exm2268699 1 63493164 [T/G] rs1330221 1 63495975 [T/C] rs12091913 1 63496207 [A/G] JHU_1.63496826 1 63496827 [T/C] JHU_1.63501279 1 63501280 [T/G] rs6664042 1 63501851 [T/C] JHU_1.63503559 1 63503560 [A/G] rs6694848 1 63503606 [A/G] rs1874930 1 63507395 [A/C] rs1532527 1 63508400 [A/G] JHU_1.63510809 1 63510810 [A/G] rs1027520 1 63513116 [A/G] rs12133419 1 63513232 [T/C] JHU_1.63513456 1 63513457 [A/G] JHU_1.63514750 1 63514751 [A/G] rs884288 1 63516757 [A/G] rs1391813 1 63517581 [A/G] JHU_1.63517826 1 63517827 [A/G] JHU_1.63518332 1 63518333 [A/G] rs79392943 1 63520609 [T/C] rs6695800 1 63521348 [A/C] rs12239228 1 63521985 [G/C] JHU_1.63526062 1 63526063 [A/G] rs72671802 1 63526063 [A/G] rs6684405 1 63528577 [T/C] JHU_1.63529527 1 63529528 [T/G] rs11581198 1 63530944 [A/G] JHU_1.63530960 1 63530961 [A/G] rs17318082 1 63532307 [A/C] JHU_1.63532530 1 63532531 [T/C] rs7537459 1 63533935 [T/C] rs112756360 1 63533946 [A/G] rs17124511 1 63538410 [T/C] rs10889401 1 63540667 [A/C] rs6679559 1 63541253 [T/C] rs7555467 1 63544850 [T/C] JHU_1.63545364 1 63545365 [A/G] JHU_1.63545734 1 63545735 [A/G] rs12116472 1 63546315 [G/C] rs56320544 1 63547902 [A/G] rs1391812 1 63549230 [T/C] rs953654 1 63549282 [T/C] rs12749598 1 63549797 [T/C] rs10889402 1 63550500 [T/G] rs1556200 1 63552264 [T/G] 1:63552990-A-G 1 63552990 [A/G] JHU_1.63553898 1 63553899 [C/G] JHU_1.63555187 1 63555188 [A/G] JHU_1.63555320 1 63555321 [T/A] rs75916614 1 63558501 [T/C] rs12094532 1 63561506 [T/A] rs1498934 1 63561813 [A/G] JHU_1.63563852 1 63563853 [T/C] JHU_1.63564006 1 63564007 [T/A] rs35583643 1 63564631 [T/A] JHU_1.63565152 1 63565153 [T/C] 1:63565327-T-G 1 63565327 [T/G] rs1391819 1 63570551 [A/G] rs74077594 1 63573461 [T/C] JHU_1.63575320 1 63575321 [A/G] JHU_1.63575558 1 63575559 [A/C] rs7535805 1 63577126 [T/A] rs138390957 1 63579349 [A/G] rs1498930 1 63580025 [A/G] JHU_1.63582966 1 63582967 [A/G] rs17390615 1 63582967 [A/G] JHU_1.63583858 1 63583859 [A/G] JHU_1.63584342 1 63584343 [T/C] rs7526034 1 63586973 [T/G] exm-rs7526034 1 63586973 [T/G] rs924337 1 63590222 [T/C] JHU_1.63590632 1 63590633 [T/C] exm-rs10493340 1 63591129 [A/G] rs74777094 1 63591325 [A/C] rs141452566 1 63593672 [A/C] rs1556201 1 63596457 [T/C] rs12405572 1 63597260 [A/G] rs35361737 1 63599249 [T/C] rs78731961 1 63599351 [T/C] rs76657146 1 63601808 [A/C] rs35802970 1 63605223 [T/C] rs11585289 1 63605601 [T/C] JHU_1.63612796 1 63612797 [T/C] rs55955300 1 63612806 [A/C] JHU_1.63613802 1 63613803 [A/G] rs17124707 1 63614428 [A/G] rs17390873 1 63614625 [A/G] rs144870796 1 63614896 [T/G] rs138651440 1 63616030 [T/C] rs79835582 1 63616625 [A/G] rs12748918 1 63616864 [T/A] rs7535047 1 63619559 [T/C] rs79550910 1 63621014 [T/G] rs1353799 1 63621743 [T/C] rs17124721 1 63622166 [T/G] rs56056846 1 63623416 [A/G] rs76178975 1 63623436 [T/C] JHU_1.63625151 1 63625152 [T/A] NR_038252 LINC00466 Silent rs74078866 1 63626147 [C/G] NR_038252 LINC00466 Silent rs3737896 1 63627377 [T/C] NR_038252 LINC00466 Silent rs11208143 1 63632518 [A/G] NR_038252 LINC00466 Silent JHU_1.63635658 1 63635659 [A/T] NR_038252 LINC00466 Silent rs72674269 1 63635659 [A/T] NR_038252 LINC00466 Silent rs4915881 1 63638150 [T/A] NR_038252 LINC00466 Silent rs80143097 1 63638260 [T/C] NR_038252 LINC00466 Silent rs6588015 1 63638714 [A/G] NR_038252 LINC00466 Silent rs72674274 1 63640175 [T/C] NR_038252 LINC00466 Silent rs79984614 1 63643296 [A/T] NR_038252 LINC00466 Silent rs11208148 1 63645215 [A/C] NR_038252 LINC00466 Silent rs7515650 1 63650851 [A/C] NR_038252 LINC00466 Silent rs4253945 1 63655914 [T/C] NR_038252 LINC00466 Silent JHU_1.63657957 1 63657958 [T/C] NR_038252 LINC00466 Silent rs4915639 1 63658137 [A/G] NR_038252 LINC00466 Silent JHU_1.63661254 1 63661255 [T/C] NR_038252 LINC00466 Silent rs10493342 1 63661911 [T/C] NR_038252 LINC00466 Silent JHU_1.63663523 1 63663524 [T/C] NR_038252 LINC00466 Silent rs61766404 1 63664093 [G/C] NR_038252 LINC00466 Silent rs12733446 1 63666050 [T/C] NR_038252 LINC00466 Silent rs6689698 1 63667713 [A/C] NR_038252 LINC00466 Silent rs6693289 1 63668754 [A/G] NR_038252 LINC00466 Silent JHU_1.63673962 1 63673963 [A/G] NR_038252 LINC00466 Silent rs7514965 1 63674545 [T/G] NR_038252 LINC00466 Silent JHU_1.63675992 1 63675993 [A/C] NR_038252 LINC00466 Silent rs60744891 1 63678614 [T/C] NR_038252 LINC00466 Silent rs6675635 1 63684460 [T/G] NR_038252 LINC00466 Silent rs7552970 1 63688381 [A/G] NR_038252 LINC00466 Silent rs11208170 1 63688942 [A/G] NR_038252 LINC00466 Silent JHU_1.63688941 1 63688942 [A/G] NR_038252 LINC00466 Silent rs11208174 1 63694103 [T/G] NR_038252 LINC00466 Silent rs997791 1 63694517 [A/G] NR_038252 LINC00466 Silent rs6661668 1 63696679 [A/G] NR_038252 LINC00466 Silent JHU_1.63703359 1 63703360 [G/C] NR_038252 LINC00466 Silent JHU_1.63715327 1 63715328 [A/C] NR_038252 LINC00466 Silent JHU_1.63722313 1 63722314 [T/A] NR_038252 LINC00466 Silent JHU_1.63727058 1 63727059 [T/C] NR_038252 LINC00466 Silent rs7554136 1 63727240 [T/G] NR_038252 LINC00466 Silent rs17124870 1 63733343 [A/C] NR_038252 LINC00466 Silent rs10493344 1 63734114 [A/C] NR_038252 LINC00466 Silent rs74414239 1 63734421 [T/C] NR_038252 LINC00466 Silent JHU_1.63734831 1 63734832 [A/C] NR_038252 LINC00466 Silent rs12747340 1 63737408 [A/G] NR_038252 LINC00466 Silent JHU_1.63744618 1 63744619 [T/C] NR_038252 LINC00466 Silent JHU_1.63747029 1 63747030 [T/C] NR_038252 LINC00466 Silent JHU_1.63748131 1 63748132 [A/G] NR_038252 LINC00466 Silent rs4915891 1 63753736 [T/C] NR_038252 LINC00466 Silent JHU_1.63768845 1 63768846 [T/C] NR_038252 LINC00466 Silent rs58146487 1 63769473 [T/C] NR_038252 LINC00466 Silent rs76094490 1 63770337 [A/G] NR_038252 LINC00466 Silent JHU_1.63770383 1 63770384 [A/C] NR_038252 LINC00466 EXON Silent rs12024843 1 63773214 [A/G] NR_038252 LINC00466 Silent rs11208184 1 63774201 [A/G] NR_038252 LINC00466 Silent rs2367270 1 63775056 [A/C] NR_038252 LINC00466 Silent JHU_1.63778761 1 63778762 [T/G] NR_038252 LINC00466 Silent JHU_1.63779379 1 63779380 [A/G] NR_038252 LINC00466 Silent rs6666222 1 63780407 [T/C] NR_038252 LINC00466 Silent JHU_1.63783092 1 63783093 [T/C] rs10789135 1 63784260 [T/G] rs2235948 1 63785389 [T/C] rs79323737 1 63786113 [A/G] 1:63788091-G-T 1 63788091 [T/G] NR_121634,NR_121636,NR_121637,NR_121635 FOXD3-AS1,FOXD3-AS1,FOXD3-AS1,FOXD3-AS1 EXON Silent,Silent,Silent,Silent 1:63788753-CA 1 63788753 [A/C] NR_121636,NR_121637,NM_012183 FOXD3-AS1,FOXD3-AS1,FOXD3 EXON Silent,Silent,Missense_S8R exm65444 1 63788776 [T/C] NR_121636,NR_121637,NM_012183 FOXD3-AS1,FOXD3-AS1,FOXD3 EXON Silent,Silent,Missense_T16M 1:63788844-GT 1 63788844 [T/G] NR_121636,NR_121637,NM_012183 FOXD3-AS1,FOXD3-AS1,FOXD3 EXON Silent,Silent,Missense_D39Y 1:63789108-GA 1 63789108 [A/G] NR_121636,NR_121637,NM_012183 FOXD3-AS1,FOXD3-AS1,FOXD3 EXON Silent,Silent,Missense_A127T 1:63789226-GA 1 63789226 [A/G] NR_121636,NR_121637,NM_012183 FOXD3-AS1,FOXD3-AS1,FOXD3 EXON Silent,Silent,Missense_G166D rs186103174 1 63791142 [A/T] JHU_1.63794136 1 63794137 [A/G] JHU_1.63794814 1 63794815 [A/G] JHU_1.63795960 1 63795961 [T/C] rs35332841 1 63796819 [T/C] rs10489493 1 63798336 [G/C] rs2024613 1 63799187 [T/C] rs12123368 1 63799525 [A/G] JHU_1.63800968 1 63800969 [A/G] JHU_1.63801010 1 63801011 [T/G] JHU_1.63802465 1 63802466 [A/G] JHU_1.63804047 1 63804048 [T/C] rs932748 1 63805122 [T/G] rs117641598 1 63807288 [A/C] rs79393472 1 63808745 [T/C] rs6675284 1 63818393 [T/C] rs12407262 1 63820276 [A/G] rs7522426 1 63821329 [A/G] JHU_1.63822639 1 63822640 [A/G] rs72676131 1 63822782 [T/C] rs114086229 1 63827396 [A/G] rs148330287 1 63828485 [A/G] rs146304063 1 63828720 [T/C] JHU_1.63830478 1 63830479 [T/C] rs12119056 1 63832640 [A/C] rs10889417 1 63835901 [A/G] NM_013339 ALG6 Silent JHU_1.63836059 1 63836060 [T/C] NM_013339 ALG6 Silent rs183861757 1 63836430 [T/C] NM_013339 ALG6 Silent variant.3970 1 63836700 [T/C] NM_013339 ALG6 EXON Nonsense_R18X rs4915899 1 63844736 [T/C] NM_013339 ALG6 Silent rs61651569 1 63853690 [T/C] NM_013339 ALG6 Silent rs4515822 1 63855501 [A/G] NM_013339 ALG6 Silent rs79532350 1 63859140 [A/G] NM_013339 ALG6 Silent rs201074540 1 63862256 [T/C] NM_013339 ALG6 EXON Missense_P52L Variant2116 1 63868015 [I/D] NM_013339 ALG6 rs199682486 1 63868019 [A/G] NM_013339 ALG6 Silent 1:63869173-A-G 1 63869173 [A/G] NM_013339 ALG6 Silent rs74816761 1 63870099 [T/C] NM_013339 ALG6 Silent variant.3972 1 63870204 [A/G] NM_013339 ALG6 EXON Missense_R113H rs2273122 1 63871758 [T/C] NM_013339 ALG6 Silent rs1012872 1 63871881 [A/G] NM_013339 ALG6 Silent exm65513 1 63872032 [T/C] NM_013339 ALG6 EXON Missense_Y131H variant.3974 1 63872071 [T/G] NM_013339 ALG6 Silent rs144183323 1 63872288 [A/C] NM_013339 ALG6 Silent 1:63872751-AG 1 63872751 [A/G] NM_013339 ALG6 EXON Missense_I150V variant.3975 1 63872785 [A/G] NM_013339 ALG6 EXON Missense_Y161C rs6588028 1 63872871 [A/G] NM_013339 ALG6 Silent rs72676146 1 63873506 [A/G] NM_013339 ALG6 Silent 1:63876849-GT 1 63876849 [T/G] NM_013339 ALG6 EXON Missense_W176L 1:63876917-TC 1 63876917 [T/C] NM_013339 ALG6 EXON Missense_Y199H 1:63876987-GA 1 63876987 [A/G] NM_013339 ALG6 EXON Missense_G222D exm65522 1 63877000 [T/G] NM_013339 ALG6 EXON Missense_K226N Variant48550 1 63877002 [A/G] NM_013339 ALG6 EXON Missense_G227E newrs146051065 1 63877004 [T/G] NM_013339 ALG6 Silent exm65526 1 63877638 [T/C] NM_013339 ALG6 EXON Missense_S241F exm65528 1 63877667 [A/G] NM_013339 ALG6 EXON Missense_T251A 1:63879792-CT 1 63879792 [T/C] NM_013339 ALG6 EXON Missense_P293S Variant15916 1 63879808 [I/D] NM_013339 ALG6 EXON exm65531 1 63881552 [T/C] NM_013339 ALG6 EXON Missense_S304F rs150709066 1 63882285 [A/G] NM_013339 ALG6 Silent rs141541719 1 63884421 [T/G] NM_013339 ALG6 Silent newrs121908443 1 63885051 [T/C] NM_013339 ALG6 EXON Missense_A333V rs121908443 1 63885051 [T/C] NM_013339 ALG6 EXON Missense_A333V rs139140859 1 63886646 [T/C] NM_013339 ALG6 Silent rs72676149 1 63886832 [T/C] NM_013339 ALG6 Silent 1:63894715-GA-G 1 63894715 [I/D] NM_013339 ALG6 EXON rs116660078 1 63894794 [T/C] NM_013339 ALG6 EXON Synonymous_Y441Y ilmnseq_rs116660078_ilmndup1 1 63894794 [T/C] NM_013339 ALG6 EXON Synonymous_Y441Y rs113805703 1 63899423 [A/G] NM_013339 ALG6 Silent rs12023577 1 63902431 [A/G] NM_013339 ALG6 Silent indel.3980 1 63902554 [D/I] NM_013339 ALG6 EXON 1:63902599-T-C 1 63902599 [T/C] NM_013339 ALG6 EXON Missense_S478P rs199571660 1 63902600 [A/C] NM_013339 ALG6 EXON Missense_S478Y exm65561 1 63902603 [T/G] NM_013339 ALG6 EXON Missense_C479F exm65562 1 63902609 [A/G] NM_013339 ALG6 EXON Missense_N481S exm65564 1 63902632 [T/G] NM_013339 ALG6 EXON Missense_F489V JHU_1.63905154 1 63905155 [T/G] rs150954864 1 63906602 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP EXON Silent,Silent,Silent,Silent,Silent rs6671446 1 63908980 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent JHU_1.63912013 1 63912014 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent JHU_1.63915957 1 63915958 [G/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent rs6588031 1 63918079 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent rs1057815 1 63918388 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent rs75106695 1 63918810 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent Variant12412 1 63919616 [I/D] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP EXON 1:63920057-CA 1 63920057 [A/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP EXON Silent,Nonsense_E141X,Nonsense_E141X,Nonsense_E180X,Nonsense_E101X,Nonsense_E141X 1KG_1_63920634 1 63920634 [I/D] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP EXON exm65582 1 63920635 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP EXON Silent,Missense_M87V,Missense_M87V,Missense_M126V,Missense_M47V,Missense_M87V rs12036710 1 63931193 [A/T] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63931734 1 63931735 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent rs149471115 1 63932241 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63940603 1 63940604 [A/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63941781 1 63941782 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63951369 1 63951370 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent rs6588043 1 63956190 [T/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63961594 1 63961595 [T/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent 1:63974207-CA 1 63974207 [A/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP EXON Silent,Nonsense_E14X,Nonsense_E14X,Nonsense_E53X,Silent,Nonsense_E14X exm65593 1 63974241 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP EXON Silent,Synonymous_P2P,Synonymous_P2P,Synonymous_S41S,Silent,Synonymous_P2P rs7418918 1 63977715 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63977716 1 63977717 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63978077 1 63978078 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63980742 1 63980743 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent JHU_1.63986939 1 63986940 [A/C] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent 1:63988664-GA 1 63988664 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent 1:63988685-GA 1 63988685 [A/G] NR_045147,NM_001347145,NM_014288,NM_001206739,NM_001347148,NM_001347147 ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent,Silent,Silent,Silent rs217478 1 63991267 [T/C] NM_032437 EFCAB7 EXON Synonymous_D8D 1:63991295-CT 1 63991295 [T/C] NM_032437 EFCAB7 EXON Missense_P18S exm65608 1 63991322 [A/T] NM_032437 EFCAB7 EXON Missense_F27I exm65609 1 63991328 [G/C] NM_032437 EFCAB7 EXON Missense_L29V exm65611 1 63991379 [A/G] NM_032437 EFCAB7 EXON Missense_V46I exm65623 1 63998425 [A/G] NM_032437 EFCAB7 EXON Missense_K162E exm65625 1 63999138 [A/G] NM_032437 EFCAB7 EXON Missense_Y167C exm65632 1 63999234 [C/G] NM_032437 EFCAB7 EXON Missense_G199A exm65634 1 63999258 [T/C] NM_032437 EFCAB7 EXON Missense_P207L 1:63999278-AG 1 63999278 [A/G] NM_032437 EFCAB7 EXON Missense_K214E indel.3992 1 63999794 [I/D] NM_032437 EFCAB7 EXON exm65639 1 63999826 [T/C] NM_032437 EFCAB7 EXON Missense_T248I rs6657480 1 63999868 [T/C] NM_032437 EFCAB7 EXON Missense_M262T exm65641 1 63999868 [T/C] NM_032437 EFCAB7 EXON Missense_M262T rs11208237 1 64002775 [T/C] NM_032437 EFCAB7 Silent rs142550313 1 64003116 [T/C] NM_032437 EFCAB7 Silent rs114938758 1 64006922 [A/G] NM_032437 EFCAB7 Silent 1:64011616-GCTT-G 1 64011616 [D/I] NM_032437 EFCAB7 EXON exm65645 1 64011657 [A/G] NM_032437 EFCAB7 EXON Missense_Y292C exm65646 1 64011667 [T/A] NM_032437 EFCAB7 EXON Missense_Q295H 1:64011678-GA 1 64011678 [A/G] NM_032437 EFCAB7 EXON Missense_R299K exm65647 1 64011693 [T/C] NM_032437 EFCAB7 EXON Missense_L304P 1:64015037-TG 1 64015037 [T/G] NM_032437,NR_002771 EFCAB7,DLEU2L EXON Silent,Silent 1:64015202-AG 1 64015202 [A/G] NM_032437,NR_002771 EFCAB7,DLEU2L EXON Silent,Silent exm65651 1 64017419 [A/G] NM_032437 EFCAB7 EXON Missense_V324I variant.3993 1 64017494 [T/C] NM_032437 EFCAB7 EXON Nonsense_R349X rs217483 1 64017830 [A/G] NM_032437 EFCAB7 Silent 1:64021064-TG 1 64021064 [T/G] NM_032437 EFCAB7 EXON Missense_I364M variant.3994 1 64021069 [A/G] NM_032437 EFCAB7 EXON Nonsense_W366X exm65652 1 64021096 [A/G] NM_032437 EFCAB7 EXON Missense_R375K 1:64021153-AG 1 64021153 [A/G] NM_032437 EFCAB7 EXON Missense_E394G variant.3995 1 64022894 [T/G] NM_032437 EFCAB7 EXON Nonsense_E442X 1:64027378-CAG-C 1 64027378 [D/I] NM_032437 EFCAB7 exm65659 1 64027454 [C/G] NM_032437 EFCAB7 EXON Missense_R475G 1:64028095-T-A 1 64028095 [A/T] NM_032437 EFCAB7 Silent rs6696034 1 64030112 [A/G] NM_032437 EFCAB7 Silent JHU_1.64032283 1 64032284 [T/C] NM_032437 EFCAB7 Silent exm65668 1 64034059 [A/G] NM_032437 EFCAB7 EXON Missense_G526R exm65670 1 64034086 [T/C] NM_032437 EFCAB7 EXON Missense_S535P exm65671 1 64034140 [A/G] NM_032437 EFCAB7 EXON Missense_V553M JHU_1.64036071 1 64036072 [T/C] NM_032437 EFCAB7 Silent exm65675 1 64036697 [T/G] NM_032437 EFCAB7 EXON Missense_D571E exm65676 1 64036764 [A/G] NM_032437 EFCAB7 EXON Missense_I594V exm65681 1 64038174 [T/C] NM_032437 EFCAB7 EXON Missense_S626F 1:64045528-G-A 1 64045528 [A/G] rs11800361 1 64046766 [T/G] rs12023805 1 64046858 [T/C] 1:64049073-C-G 1 64049073 [C/G] 1:64053650-T-C 1 64053650 [T/C] rs17125166 1 64053755 [A/G] 1:64055069-C-T 1 64055069 [T/C] rs11208250 1 64056411 [A/C] exm65686 1 64059266 [A/C] NM_002633 PGM1 EXON Missense_A36E 1:64059271-A-T 1 64059271 [T/A] NM_002633 PGM1 EXON Missense_N38Y 1:64059343-G-C 1 64059343 [G/C] NM_002633 PGM1 EXON Missense_D62H exm65690 1 64059403 [T/G] NM_002633 PGM1 EXON Missense_G82W 1:64059717-C-T 1 64059717 [T/C] NM_002633,NM_001172819 PGM1,PGM1 EXON Silent,Silent JHU_1.64059724 1 64059725 [G/C] NM_002633,NM_001172819 PGM1,PGM1 EXON Silent,Silent 1:64060262-C-A 1 64060262 [A/C] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent 1:64062878-C-T 1 64062878 [T/C] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent 1:64066405-G-A 1 64066405 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent JHU_1.64070998 1 64070999 [C/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent 1:64073387-C-A 1 64073387 [A/C] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent 1:64075150-G-A 1 64075150 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent 1:64077115-A-G 1 64077115 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent JHU_1.64078255 1 64078256 [T/C] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent rs1884467 1 64078425 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent rs2269266 1 64079677 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent rs2269265 1 64080118 [T/C] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent 1:64081021-G-C 1 64081021 [G/C] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent JHU_1.64081081 1 64081082 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent JHU_1.64081220 1 64081221 [T/C] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent 1:64084219-T-C 1 64084219 [T/C] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent 1:64084222-T-C 1 64084222 [T/C] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent 1:64086521-T-C 1 64086521 [T/C] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent 1:64086762-A-G 1 64086762 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent rs2301059 1 64086901 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent chr1_64089220 1 64089220 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Silent,Silent,Missense_Y30C indel.4001 1 64089357 [I/D] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON 1:64089405-AG 1 64089405 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Silent,Silent,Missense_I92V exm65701 1 64089432 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs59760342 1 64089770 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs1567051 1 64090377 [G/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs855311 1 64091739 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs35259030 1 64092424 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent JHU_1.64093398 1 64093399 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent JHU_1.64093504 1 64093505 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent JHU_1.64095041 1 64095042 [T/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent JHU_1.64095110 1 64095111 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_I88V,Silent,Missense_I106V exm65704 1 64095111 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_I88V,Silent,Missense_I106V 1:64095192-A-G 1 64095192 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_T115A,Silent,Missense_T133A 1:64095210-G-C 1 64095210 [C/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_G121R,Silent,Missense_G139R 1:64095231-GA 1 64095231 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_G128R,Silent,Missense_G146R JHU_1.64095247 1 64095248 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Synonymous_I133I,Silent,Synonymous_I151I JHU_1.64095492 1 64095493 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs141007881 1 64095623 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Synonymous_P140P,Silent,Synonymous_P158P 1:64095645-TG 1 64095645 [T/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_F148V,Silent,Missense_F166V JHU_1.64095805 1 64095806 [C/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent JHU_1.64095835 1 64095836 [C/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent JHU_1.64095861 1 64095862 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent exm65716 1 64097343 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_S191L,Silent,Missense_S209L exm65719 1 64097390 [C/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_A207P,Missense_A10P,Missense_A225P exm1858140 1 64097421 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R217Q,Missense_R20Q,Missense_R235Q exm65721 1 64097432 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R221C,Missense_R24C,Missense_R239C 1:64097621-A-G 1 64097621 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs2269251 1 64098188 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64098803-A-G 1 64098803 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs12028085 1 64100265 [G/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs200237046 1 64100525 [C/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_I236M,Missense_I39M,Missense_I254M 1:64100604-G-T 1 64100604 [T/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_D263Y,Missense_D66Y,Missense_D281Y Variant48557 1 64100688 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_G291R,Missense_G94R,Missense_G309R 1:64101408-A-G 1 64101408 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent variant.4003 1 64101908 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Nonsense_R293X,Nonsense_R96X,Nonsense_R311X rs145807501 1 64101931 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Synonymous_H300H,Synonymous_H103H,Synonymous_H318H 1:64101960-TC 1 64101960 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_V310A,Missense_V113A,Missense_V328A Variant48558 1 64102019 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_G330S,Missense_G133S,Missense_G348S 1:64102058-CT 1 64102058 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R343W,Missense_R146W,Missense_R361W ilmnseq_rs541069522 1 64102070 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs2269248 1 64102114 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64103049-G-A 1 64103049 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs72920886 1 64103329 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64104375-AG 1 64104375 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_I350V,Missense_I153V,Missense_I368V exm65742 1 64104430 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_A368V,Missense_A171V,Missense_A386V exm65743 1 64104434 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_S369R,Missense_S172R,Missense_S387R exm65746 1 64104470 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Synonymous_T381T,Synonymous_T184T,Synonymous_T399T JHU_1.64104706 1 64104707 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent JHU_1.64105055 1 64105056 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64105555-C-T 1 64105555 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64106080-C-T 1 64106080 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64106817-T-C 1 64106817 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64107284-C-T 1 64107284 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64107491-T-C 1 64107491 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs855327 1 64107629 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64108682-G-A 1 64108682 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs2269241 1 64108771 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent exm-rs2269241 1 64108771 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs2269240 1 64109264 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64109359-C-G 1 64109359 [G/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64109683-C-T 1 64109683 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs72920894 1 64109867 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64111304-T-A 1 64111304 [T/A] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64111548-A-G 1 64111548 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64111866-C-T 1 64111866 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64112169-A-C 1 64112169 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs2024837 1 64112250 [G/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64112266-C-A 1 64112266 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent JHU_1.64113078 1 64113079 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64114187-G-C 1 64114187 [C/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64114202-CT 1 64114202 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R387C,Missense_R190C,Missense_R405C chr1_64114256 1 64114256 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R405S,Missense_R208S,Missense_R423S 1:64114283-AG 1 64114283 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_K414E,Missense_K217E,Missense_K432E exm65756 1 64114301 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_Y420H,Missense_Y223H,Missense_Y438H 1:64114429-G-T 1 64114429 [T/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64114660-T-C 1 64114660 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64117395-GA 1 64117395 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_E446K,Missense_E249K,Missense_E464K exm65762 1 64117459 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_T467N,Missense_T270N,Missense_T485N rs2269238 1 64117537 [T/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs2269237 1 64117913 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs2269236 1 64118212 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64118801-T-C 1 64118801 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64118915-A-G 1 64118915 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64118976-A-G 1 64118976 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64119346-T-C 1 64119346 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent Variant48560 1 64120033 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Nonsense_R499X,Nonsense_R302X,Nonsense_R517X exm65770 1 64120039 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_V501I,Missense_V304I,Missense_V519I 1:64120045-C-T 1 64120045 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Nonsense_R503X,Nonsense_R306X,Nonsense_R521X 1:64120085-T-C 1 64120085 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_L516P,Missense_L319P,Missense_L534P exm65774 1 64120111 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_V525I,Missense_V328I,Missense_V543I var_1_64120142 1 64120142 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64122505-A-G 1 64122505 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64123158-C-T 1 64123158 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64123220-A-G 1 64123220 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64123279-G-A 1 64123279 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs6671606 1 64123868 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64123897-T-G 1 64123897 [T/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64124002-C-A 1 64124002 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64124069-CTT-C 1 64124069 [I/D] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 1:64124824-A-T 1 64124824 [T/A] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64124830-G-A 1 64124830 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64124930-T-A 1 64124930 [A/T] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64124979-G-T 1 64124979 [T/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64125072-T-C 1 64125072 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 1:64125234-G-T 1 64125234 [T/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs183520355 1 64125276 [T/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_I540S,Missense_I343S,Missense_I558S exm65782 1 64125320 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R555C,Missense_R358C,Missense_R573C rs4643 1 64125439 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Silent,Silent,Silent rs10909 1 64125544 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Silent,Silent,Silent rs855350 1 64127004 [T/C] rs2749097 1 64127468 [G/C] exm-rs2749097 1 64127468 [G/C] 1:64127599-C-G 1 64127599 [C/G] 1:64127662-G-C 1 64127662 [C/G] rs705510 1 64127936 [C/G] 1:64128209-C-T 1 64128209 [T/C] 1:64128309-T-A 1 64128309 [T/A] 1:64134481-C-T 1 64134481 [T/C] 1:64134982-C-T 1 64134982 [T/C] JHU_1.64137029 1 64137030 [T/C] 1:64137467-G-A 1 64137467 [A/G] JHU_1.64137675 1 64137676 [A/G] rs1740402 1 64140572 [A/G] rs7518267 1 64140881 [A/G] 1:64142380-G-A 1 64142380 [A/G] 1:64145283-C-G 1 64145283 [G/C] rs80173141 1 64146194 [A/T] rs12129559 1 64146561 [A/G] 1:64146653-C-T 1 64146653 [T/C] 1:64147471-G-C 1 64147471 [C/G] rs12127151 1 64149699 [T/G] 1:64151369-G-C 1 64151369 [C/G] rs2658399 1 64153652 [T/C] 1:64153838-G-A 1 64153838 [A/G] 1:64154108-C-T 1 64154108 [T/C] 1:64155312-G-A 1 64155312 [A/G] JHU_1.64157896 1 64157897 [C/G] 1:64158139-G-A 1 64158139 [A/G] rs4915644 1 64159344 [A/G] JHU_1.64160049 1 64160050 [T/C] rs17125348 1 64161699 [T/C] exm2252590 1 64165243 [A/C] rs12758494 1 64165320 [C/G] rs13375921 1 64165508 [A/G] rs12087869 1 64166968 [T/C] rs6588064 1 64167237 [A/G] JHU_1.64169122 1 64169123 [T/C] rs7533467 1 64171431 [T/C] rs2658408 1 64172416 [T/C] rs1506399 1 64173484 [A/C] rs937805 1 64173753 [A/C] JHU_1.64174070 1 64174071 [A/G] rs2819159 1 64174386 [A/G] rs140761698 1 64174454 [T/C] 1:64175896-G-T 1 64175896 [T/G] 1:64176492-G-C 1 64176492 [C/G] rs4915914 1 64177299 [A/G] rs117268596 1 64179311 [T/C] JHU_1.64179817 1 64179818 [A/G] rs12568516 1 64180225 [A/G] JHU_1.64181367 1 64181368 [T/C] JHU_1.64181377 1 64181378 [T/C] rs34603687 1 64186025 [A/G] 1:64189719-C-T 1 64189719 [T/C] 1:64193150-C-T 1 64193150 [T/C] rs13374611 1 64193197 [T/C] 1:64194207-G-A 1 64194207 [A/G] rs79217695 1 64194819 [A/G] rs116603187 1 64194863 [A/G] 1:64198118-T-A 1 64198118 [A/T] 1:64198232-T-C 1 64198232 [T/C] rs2819174 1 64198313 [A/G] 1:64198880-A-G 1 64198880 [A/G] 1:64208945-G-C 1 64208945 [C/G] JHU_1.64208944 1 64208945 [C/G] rs1463942 1 64209711 [T/C] rs72681184 1 64213857 [C/G] 1:64214794-C-T 1 64214794 [T/C] rs1701530 1 64217123 [T/C] 1:64218726-G-A 1 64218726 [A/G] 1:64220636-C-T 1 64220636 [T/C] rs2772102 1 64221012 [T/G] rs17125501 1 64221188 [T/C] JHU_1.64222917 1 64222918 [A/G] JHU_1.64222932 1 64222933 [A/G] JHU_1.64223018 1 64223019 [T/G] JHU_1.64223519 1 64223520 [A/G] JHU_1.64225186 1 64225187 [T/C] JHU_1.64226568 1 64226569 [T/C] JHU_1.64226668 1 64226669 [T/A] JHU_1.64226679 1 64226680 [T/C] rs2819130 1 64231541 [A/G] rs2643222 1 64233017 [A/G] rs17125521 1 64235055 [A/T] JHU_1.64236070 1 64236071 [A/G] rs114316480 1 64237857 [A/G] JHU_1.64239632 1 64239633 [T/C] JHU_1.64248227 1 64248228 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs632015 1 64249288 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64252941 1 64252942 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64253872 1 64253873 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64257279 1 64257280 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64259016 1 64259017 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1542805 1 64262269 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs629729 1 64266758 [T/A] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs640407 1 64267606 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs58097737 1 64272841 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs11208297 1 64275420 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs596985 1 64277035 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent exm2265015 1 64277035 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs79859391 1 64279360 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs72683038 1 64281397 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs603218 1 64283711 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs78708225 1 64285388 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs35310909 1 64294072 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs685458 1 64295971 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64300413 1 64300414 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs75890476 1 64302020 [A/T] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs72683045 1 64302751 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64311782 1 64311783 [G/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64311886 1 64311887 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs663458 1 64312919 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs2132161 1 64313498 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs649608 1 64313696 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs11208306 1 64320736 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs74077460 1 64326615 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64329708 1 64329709 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs78488117 1 64335230 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs78756289 1 64337011 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs138195656 1 64338189 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64339184 1 64339185 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64339423 1 64339424 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs7513180 1 64339801 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs11208308 1 64340452 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs11802375 1 64341732 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64342922 1 64342923 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64343530 1 64343531 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64343626 1 64343627 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs7521098 1 64347259 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1961207 1 64347648 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs67986387 1 64348467 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs855845 1 64354536 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs78643711 1 64355424 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs855835 1 64357060 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs855823 1 64361960 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs112345289 1 64364798 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64368005 1 64368006 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs855829 1 64370049 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64380250 1 64380251 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs75044171 1 64381288 [G/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs705529 1 64381917 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs3861946 1 64383389 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs113386566 1 64383775 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs17359018 1 64384579 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs17125809 1 64384936 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs116854682 1 64385446 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs149098080 1 64389064 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs138602287 1 64389538 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6671129 1 64394124 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs79854205 1 64395641 [T/A] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs79453974 1 64406235 [G/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64406656 1 64406657 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64408777 1 64408778 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6660751 1 64412138 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs115455468 1 64417902 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64422257 1 64422258 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs78787847 1 64429348 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64436069 1 64436070 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs12074174 1 64436374 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64441376 1 64441377 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285339 1 64442169 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs77133479 1 64444707 [T/A] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64451666 1 64451667 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64458761 1 64458762 [C/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285364 1 64459519 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285370 1 64462582 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs11808578 1 64465947 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285386 1 64470166 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64471379 1 64471380 [A/T] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64473071 1 64473072 [G/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent exm65789 1 64475021 [T/C] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_W46R,Missense_W46R JHU_1.64480444 1 64480445 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs834485 1 64484485 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64484800 1 64484801 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs116334233 1 64485499 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64485952 1 64485953 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64491680 1 64491681 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs77286216 1 64495888 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1951852 1 64497161 [A/T] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1746927 1 64498297 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs117804461 1 64498977 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64499869 1 64499870 [A/T] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64502305 1 64502306 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs705532 1 64508126 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs12125506 1 64509025 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs147845205 1 64515115 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent 1:64515507-GA 1 64515507 [A/G] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_R103Q,Missense_R103Q variant.4006 1 64516388 [T/C] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_S161L,Missense_S161L rs141387287 1 64520319 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs863087 1 64525961 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs74695748 1 64526173 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6676244 1 64531564 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1260773 1 64534922 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs113619373 1 64536417 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1772618 1 64540133 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs112046334 1 64540674 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent 1:64540989-G-A 1 64540989 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs10493354 1 64541533 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs2360720 1 64542800 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs114604816 1 64543878 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs3903873 1 64544529 [G/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs834343 1 64545124 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs834350 1 64549091 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64549276 1 64549277 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6687610 1 64550630 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1619058 1 64551422 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs138138409 1 64554364 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64554748 1 64554749 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs7533927 1 64555255 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs35421478 1 64556678 [T/A] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64556677 1 64556678 [T/A] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs2806541 1 64566396 [A/G] NM_005012,NM_001083592,NR_110666 ROR1,ROR1,ROR1-AS1 Silent,Silent,Silent rs7521771 1 64573067 [T/G] NM_005012,NM_001083592,NR_110666,NR_110665 ROR1,ROR1,ROR1-AS1,ROR1-AS1 Silent,Silent,Silent,Silent JHU_1.64573739 1 64573740 [T/C] NM_005012,NM_001083592,NR_110666,NR_110665 ROR1,ROR1,ROR1-AS1,ROR1-AS1 Silent,Silent,Silent,Silent rs12121161 1 64573740 [T/C] NM_005012,NM_001083592,NR_110666,NR_110665 ROR1,ROR1,ROR1-AS1,ROR1-AS1 Silent,Silent,Silent,Silent rs2806533 1 64576097 [A/G] NM_005012,NM_001083592,NR_110666,NR_110665 ROR1,ROR1,ROR1-AS1,ROR1-AS1 Silent,Silent,Silent,Silent rs12116855 1 64578214 [T/G] NM_005012,NM_001083592,NR_110665 ROR1,ROR1,ROR1-AS1 Silent,Silent,Silent rs2806537 1 64579157 [T/C] NM_005012,NM_001083592,NR_110665 ROR1,ROR1,ROR1-AS1 Silent,Silent,Silent rs6677577 1 64579350 [A/G] NM_005012,NM_001083592,NR_110665 ROR1,ROR1,ROR1-AS1 EXON Silent,Silent,Silent rs76213721 1 64579388 [A/G] NM_005012,NM_001083592,NR_110665 ROR1,ROR1,ROR1-AS1 EXON Silent,Silent,Silent rs17357054 1 64582357 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs72916929 1 64583312 [T/A] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64583778 1 64583779 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1408417 1 64590697 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs10489905 1 64591756 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent JHU_1.64598477 1 64598478 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs10489903 1 64600020 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs7528814 1 64601845 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent 1:64605983-AG 1 64605983 [A/G] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_R268G,Missense_R268G 1:64606005-TC 1 64606005 [T/C] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_M275T,Missense_M275T 1:64608132-GA 1 64608132 [A/G] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_V325I,Missense_V325I exm65825 1 64608204 [A/G] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_A349T,Missense_A349T exm65828 1 64608211 [A/G] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_R351H,Missense_R351H rs12042472 1 64611075 [A/T] NM_005012 ROR1 Silent JHU_1.64611226 1 64611227 [A/G] NM_005012 ROR1 Silent rs2806542 1 64612756 [A/G] NM_005012 ROR1 Silent rs6588083 1 64614011 [T/C] NM_005012 ROR1 Silent rs187535672 1 64614571 [A/C] NM_005012 ROR1 Silent exm2264847 1 64615775 [A/G] NM_005012 ROR1 Silent rs1535872 1 64615775 [A/G] NM_005012 ROR1 Silent rs2762834 1 64616391 [A/G] NM_005012 ROR1 Silent JHU_1.64620748 1 64620749 [T/C] NM_005012 ROR1 Silent rs4619008 1 64622069 [A/G] NM_005012 ROR1 Silent rs77713163 1 64624327 [T/C] NM_005012 ROR1 Silent rs4565754 1 64624403 [A/G] NM_005012 ROR1 Silent exm65842 1 64624796 [T/C] NM_005012 ROR1 EXON Missense_S436L exm65845 1 64624816 [T/C] NM_005012 ROR1 EXON Missense_P443S rs79096690 1 64625049 [A/G] NM_005012 ROR1 Silent JHU_1.64629723 1 64629724 [A/T] NM_005012 ROR1 Silent rs79013677 1 64633042 [T/C] NM_005012 ROR1 Silent rs7515058 1 64634163 [T/C] NM_005012 ROR1 Silent rs4306167 1 64637880 [T/G] NM_005012 ROR1 Silent JHU_1.64641773 1 64641774 [A/G] NM_005012 ROR1 Silent JHU_1.64641956 1 64641957 [A/G] NM_005012 ROR1 Silent exm65849 1 64643145 [A/G] NM_005012 ROR1 EXON Missense_R474H exm65852 1 64643277 [T/C] NM_005012 ROR1 EXON Missense_T518M rs7527017 1 64643277 [T/C] NM_005012 ROR1 EXON Missense_T518M 1:64643348-GA 1 64643348 [A/G] NM_005012 ROR1 EXON Missense_V542I exm65855 1 64643363 [T/C] NM_005012 ROR1 EXON Missense_P547S exm65861 1 64643452 [G/C] NM_005012 ROR1 EXON Missense_S576R 1:64643492-GA 1 64643492 [A/G] NM_005012 ROR1 EXON Missense_G590R 1:64643788-TG 1 64643788 [T/G] NM_005012 ROR1 EXON Missense_F688L exm65874 1 64643793 [T/C] NM_005012 ROR1 EXON Missense_L690P exm65877 1 64643954 [A/G] NM_005012 ROR1 EXON Missense_V744I 1:64644135-GT 1 64644135 [T/G] NM_005012 ROR1 EXON Missense_G804V 1:64644213-CT 1 64644213 [T/C] NM_005012 ROR1 EXON Missense_A830V chr1_64644236 1 64644236 [A/C] NM_005012 ROR1 EXON Missense_P838T rs11208377 1 64647608 [T/C] JHU_1.64648283 1 64648284 [T/A] JHU_1.64648737 1 64648738 [C/G] rs11802110 1 64654704 [A/G] rs4266926 1 64658597 [A/G] JHU_1.64658841 1 64658842 [A/C] rs75478998 1 64658991 [T/C] rs115753685 1 64661087 [T/G] rs34460133 1 64662030 [T/C] rs7518535 1 64663192 [A/G] JHU_1.64663553 1 64663554 [A/G] rs7545208 1 64665046 [A/C] rs2806527 1 64665260 [A/G] rs143256003 1 64669031 [T/C] indel.4008 1 64669761 [I/D] NM_152489 UBE2U EXON indel.4009 1 64669795 [I/D] NM_152489 UBE2U EXON JHU_1.64669850 1 64669851 [A/G] NM_152489 UBE2U Silent 1:64671321-AG-A 1 64671321 [D/I] NM_152489 UBE2U exm65904 1 64676452 [T/C] NM_152489 UBE2U EXON Missense_I90T var_1_64676467 1 64676468 [D/I] NM_152489 UBE2U EXON 1:64676503-GA 1 64676503 [A/G] NM_152489 UBE2U EXON Missense_S107N rs2806532 1 64677055 [A/G] NM_152489 UBE2U Silent rs825175 1 64679749 [T/C] NM_152489 UBE2U Silent exm65907 1 64680581 [A/C] NM_152489 UBE2U EXON Missense_R141S rs7526950 1 64684038 [T/C] NM_152489 UBE2U Silent variant.4012 1 64686540 [A/G] NM_152489 UBE2U Silent exm65911 1 64686577 [T/C] NM_152489 UBE2U EXON Missense_R165C JHU_1.64687895 1 64687896 [A/G] NM_152489 UBE2U Silent JHU_1.64690420 1 64690421 [A/G] NM_152489 UBE2U Silent rs115502921 1 64692646 [T/G] NM_152489 UBE2U Silent rs17126246 1 64693901 [A/G] NM_152489 UBE2U Silent rs825182 1 64695930 [T/C] NM_152489 UBE2U Silent rs17126249 1 64696077 [A/G] NM_152489 UBE2U Silent variant.4013 1 64698277 [A/C] NM_152489 UBE2U EXON Nonsense_Y180X variant.4014 1 64698303 [A/C] NM_152489 UBE2U EXON Nonsense_S189X rs2029868 1 64698411 [T/C] NM_152489 UBE2U Silent 1:64707356-TC 1 64707356 [T/C] NM_152489 UBE2U EXON Missense_I206T 1:64707361-CT 1 64707361 [T/C] NM_152489 UBE2U EXON Nonsense_Q208X exm65916 1 64707395 [T/A] NM_152489 UBE2U EXON Missense_H219L JHU_1.64709060 1 64709061 [T/C] NM_152489 UBE2U Silent rs79588234 1 64709561 [T/C] NM_152489 UBE2U Silent rs10789152 1 64709891 [A/G] NM_152489 UBE2U EXON Silent 1:64711326-G-T 1 64711326 [T/G] NM_152489 UBE2U EXON Silent rs12564350 1 64719660 [T/C] rs150008566 1 64722719 [T/C] rs705540 1 64725787 [A/G] 1:64726293-GA 1 64726293 [A/G] 1:64726326-CT 1 64726326 [T/C] rs11588217 1 64727239 [A/C] 1:64732733-GA 1 64732733 [A/G] JHU_1.64733810 1 64733811 [A/C] rs705551 1 64737015 [T/C] rs825241 1 64747636 [A/G] rs825239 1 64749809 [A/G] rs705559 1 64752871 [A/G] rs17126275 1 64753640 [A/G] rs12727354 1 64756763 [A/G] rs72669309 1 64757595 [T/C] rs12734878 1 64759708 [T/C] rs825213 1 64762226 [A/G] rs6683502 1 64762259 [A/C] rs147309234 1 64768871 [T/C] JHU_1.64772291 1 64772292 [A/G] rs825203 1 64773328 [A/T] rs6703725 1 64773787 [A/G] rs17126315 1 64775997 [T/C] rs957576 1 64784574 [T/C] JHU_1.64785166 1 64785167 [T/C] JHU_1.64786958 1 64786959 [C/G] rs11208420 1 64790514 [A/G] rs4915972 1 64791688 [T/C] JHU_1.64794305 1 64794306 [A/G] JHU_1.64794438 1 64794439 [T/C] rs1390475 1 64800809 [T/C] rs75195995 1 64801332 [T/C] rs12117461 1 64804261 [T/C] rs10889478 1 64804890 [T/C] rs1908635 1 64805503 [A/C] rs17126413 1 64806201 [T/C] rs17394275 1 64806293 [C/G] JHU_1.64808596 1 64808597 [G/C] rs144161803 1 64809988 [T/C] rs112141153 1 64812060 [A/G] rs187226094 1 64812200 [A/T] rs10493358 1 64812821 [A/G] rs79617716 1 64815400 [A/G] JHU_1.64815636 1 64815637 [T/C] rs60906982 1 64826668 [A/G] rs11208433 1 64827193 [A/G] rs79634082 1 64830260 [T/C] rs35030923 1 64831603 [T/C] rs76762168 1 64833346 [A/C] rs149840521 1 64834649 [T/G] rs1514966 1 64834710 [A/G] rs373780304 1 64836068 [A/G] JHU_1.64836645 1 64836646 [T/C] rs11208437 1 64837143 [T/C] rs7523530 1 64837796 [A/G] rs7349133 1 64841469 [A/G] rs55799478 1 64846726 [T/C] JHU_1.64851019 1 64851020 [T/C] JHU_1.64851164 1 64851165 [T/C] rs80092612 1 64851344 [T/C] JHU_1.64851343 1 64851344 [T/C] rs34538358 1 64856384 [T/C] JHU_1.64859121 1 64859122 [T/C] rs6695900 1 64862973 [T/C] rs74412166 1 64865209 [A/G] rs11208446 1 64868352 [A/G] rs76349904 1 64870917 [C/G] rs1155542 1 64871720 [T/C] rs1567933 1 64872227 [T/G] JHU_1.64873072 1 64873073 [A/G] JHU_1.64873167 1 64873168 [A/G] rs79526284 1 64878492 [A/G] JHU_1.64878491 1 64878492 [A/G] JHU_1.64883922 1 64883923 [A/G] JHU_1.64884264 1 64884265 [T/C] rs116202570 1 64886612 [A/C] rs11208448 1 64892397 [A/G] rs9988591 1 64894096 [T/C] rs148851515 1 64896063 [A/G] JHU_1.64896156 1 64896157 [T/C] JHU_1.64897114 1 64897115 [T/A] JHU_1.64902454 1 64902455 [T/C] rs72671375 1 64904633 [T/C] rs71645591 1 64905972 [T/C] rs305527 1 64906674 [A/T] JHU_1.64906837 1 64906838 [T/C] rs199537147 1 64906838 [T/C] rs77967909 1 64909719 [T/C] JHU_1.64909760 1 64909761 [T/A] JHU_1.64913564 1 64913565 [A/G] rs305535 1 64914437 [A/C] rs12139788 1 64922435 [T/C] rs305549 1 64925123 [A/G] JHU_1.64926522 1 64926523 [T/C] JHU_1.64933056 1 64933057 [T/C] JHU_1.64933323 1 64933324 [A/G] rs11584157 1 64934176 [G/C] JHU_1.64934263 1 64934264 [T/C] JHU_1.64935033 1 64935034 [A/G] JHU_1.64935776 1 64935777 [A/G] 1:64936621-TC 1 64936621 [T/C] NM_020925 CACHD1 EXON Missense_M65T rs56869475 1 64937302 [A/G] NM_020925 CACHD1 Silent rs7517824 1 64941609 [T/C] NM_020925 CACHD1 Silent rs116718101 1 64943027 [T/C] NM_020925 CACHD1 Silent JHU_1.64943258 1 64943259 [T/C] NM_020925 CACHD1 Silent rs116500708 1 64945021 [A/G] NM_020925 CACHD1 Silent JHU_1.64949546 1 64949547 [T/C] NM_020925 CACHD1 Silent JHU_1.64949555 1 64949556 [T/C] NM_020925 CACHD1 Silent rs305540 1 64951754 [A/G] NM_020925 CACHD1 Silent rs305558 1 64958500 [T/C] NM_020925 CACHD1 Silent rs305559 1 64958814 [G/C] NM_020925 CACHD1 Silent JHU_1.64967151 1 64967152 [A/G] NM_020925 CACHD1 Silent rs147463201 1 64968720 [A/G] NM_020925 CACHD1 Silent rs61787362 1 64970327 [A/G] NM_020925 CACHD1 Silent rs305583 1 64977510 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.64985574 1 64985575 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent 1:64987301-G-A 1 64987301 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs307343 1 64991426 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs646443 1 64994828 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs596504 1 64997130 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.64997209 1 64997210 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs6702035 1 64998457 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm2260550 1 65000767 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs72929127 1 65003839 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65007546 1 65007547 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs635154 1 65008206 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs76278891 1 65008510 [A/T] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs17126643 1 65010606 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65012621 1 65012622 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs6681578 1 65013586 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs17126653 1 65015252 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65015486 1 65015487 [A/T] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs1436744 1 65015919 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm65930 1 65016278 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R67Q,Silent rs11808959 1 65016399 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs12408795 1 65016681 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs116568056 1 65017047 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs77805650 1 65018578 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65023428 1 65023429 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65028832 1 65028833 [G/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65029075 1 65029076 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs1370090 1 65029345 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs12568152 1 65029829 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs6660732 1 65031000 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs11208467 1 65031202 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65032404 1 65032405 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65035249 1 65035250 [C/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs141770732 1 65036497 [G/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs1436750 1 65043551 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65044943 1 65044944 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs12734817 1 65046837 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs201129649 1 65047869 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R98C,Silent exm65935 1 65047870 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R98H,Silent 1:65047888-AG 1 65047888 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_N104S,Silent rs12068675 1 65049950 [A/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65055169 1 65055170 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs1436748 1 65057146 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65057179 1 65057180 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65063223 1 65063224 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65063737 1 65063738 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm65942 1 65068550 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_T158A,Silent variant.4017 1 65068580 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Nonsense_R168X,Silent rs12754428 1 65069185 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs114157947 1 65069461 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65072255 1 65072256 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs71645596 1 65072324 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs7533098 1 65074489 [A/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs17126766 1 65079551 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs12407953 1 65084275 [C/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65088326 1 65088327 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs77188188 1 65088739 [T/A] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs1436756 1 65089766 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs12022915 1 65093542 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs12023725 1 65093974 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent 1:65095151-GA 1 65095151 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_E211K,Silent rs182323946 1 65095158 [G/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R213P,Silent exm65955 1 65095158 [G/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R213P,Silent rs1075473 1 65098136 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs17126801 1 65098163 [G/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs186922821 1 65098308 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_P224L,Silent exm65959 1 65098362 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_T242I,Silent exm1860409 1 65099758 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R274Q,Silent rs7552434 1 65103510 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65105610 1 65105611 [T/A] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent 1:65107563-AG 1 65107563 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_E356G,Missense_E60G JHU_1.65108764 1 65108765 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65109256 1 65109257 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs144960986 1 65109257 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm65981 1 65113552 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_G409S,Missense_G113S 1:65113568-TC 1 65113568 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_M414T,Missense_M118T chr1_65113655 1 65113655 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_L443R,Missense_L147R exm2252614 1 65113680 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Synonymous_A451A,Synonymous_A155A rs1561168 1 65115319 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65115811 1 65115812 [A/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65119088 1 65119089 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm66003 1 65119549 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R550Q,Missense_R254Q rs78424500 1 65121023 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs145905330 1 65124398 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_T598I,Missense_T302I exm66009 1 65124398 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_T598I,Missense_T302I 1:65124516-GT 1 65124516 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_Q637H,Missense_Q341H rs12565594 1 65125167 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm66025 1 65130249 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_M721I,Missense_M425I exm1860516 1 65130296 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_N737S,Missense_N441S exm66034 1 65131780 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_T773A,Missense_T477A rs11208499 1 65135068 [A/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm66050 1 65139130 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_F904L,Missense_F608L exm66052 1 65139146 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_A909V,Missense_A613V var_1_65139152 1 65139152 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs186636583 1 65142603 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_E1001K,Missense_E705K exm66063 1 65142603 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_E1001K,Missense_E705K 1:65142630-CT 1 65142630 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_P1010S,Missense_P714S rs2499823 1 65143441 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent exm66066 1 65143877 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_M1043T,Missense_M747T chr1_65143985 1 65143985 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_G1079E,Missense_G783E exm66073 1 65145283 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_E1084K,Missense_E788K rs199862686 1 65145377 [A/T] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_Y1115F,Missense_Y819F exm66081 1 65145386 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R1118H,Missense_R822H 1:65145407-GA 1 65145407 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_S1125N,Missense_S829N exm66082 1 65145421 [A/T] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_S1130T,Missense_S834T rs12044266 1 65146290 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs3828064 1 65147002 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Synonymous_H1156H,Synonymous_H860H exm66087 1 65147013 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_G1160D,Missense_G864D JHU_1.65147224 1 65147225 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65147234 1 65147235 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent 1:65147733-AG 1 65147733 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_H1177R,Missense_H881R rs182545219 1 65147753 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_R1184C,Missense_R888C rs12081048 1 65148312 [T/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65151659 1 65151660 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65151698 1 65151699 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65151885 1 65151886 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent JHU_1.65152096 1 65152097 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs75681619 1 65152939 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs12094571 1 65154517 [T/A] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent rs11208506 1 65155381 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 Silent,Silent seq-rs180694325 1 65157122 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_P1235S,Missense_P939S exm66101 1 65157122 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_P1235S,Missense_P939S exm66102 1 65157126 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_Q1236R,Missense_Q940R 1:65157168-CT 1 65157168 [T/C] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_S1250L,Missense_S954L 1:65157198-AG 1 65157198 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_H1260R,Missense_H964R exm66106 1 65157212 [A/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_V1265I,Missense_V969I exm66108 1 65157225 [C/G] NM_020925,NM_001293274 CACHD1,CACHD1 EXON Missense_T1269S,Missense_T973S JHU_1.65159813 1 65159814 [A/G] rs1926304 1 65161230 [T/G] rs17126904 1 65163943 [T/C] rs7539994 1 65164851 [T/C] rs12402072 1 65164880 [A/G] rs17126907 1 65165013 [T/A] JHU_1.65166848 1 65166849 [A/C] rs74080502 1 65169152 [C/G] rs79602076 1 65169786 [A/G] rs11208512 1 65170405 [T/C] JHU_1.65174669 1 65174670 [T/C] rs10493363 1 65176982 [T/C] rs11799558 1 65180463 [T/G] rs17388633 1 65185582 [A/C] exm2252617 1 65186794 [A/G] rs10493365 1 65190713 [T/C] JHU_1.65194235 1 65194236 [A/C] JHU_1.65196946 1 65196947 [T/A] rs191026017 1 65198066 [A/C] JHU_1.65198293 1 65198294 [A/G] rs6679426 1 65199922 [A/G] rs2375475 1 65211843 [T/C] NM_018211 RAVER2 Silent JHU_1.65219043 1 65219044 [T/A] NM_018211 RAVER2 Silent rs72675412 1 65221805 [T/C] NM_018211 RAVER2 Silent rs6676160 1 65221842 [A/G] NM_018211 RAVER2 Silent JHU_1.65225788 1 65225789 [A/G] NM_018211 RAVER2 Silent rs118132098 1 65230661 [A/G] NM_018211 RAVER2 Silent rs79848952 1 65233700 [T/C] NM_018211 RAVER2 Silent 1:65234400-GA 1 65234400 [A/G] NM_018211 RAVER2 EXON Missense_R104Q rs142975127 1 65236921 [A/G] NM_018211 RAVER2 Silent rs117181211 1 65237173 [T/C] NM_018211 RAVER2 Silent rs117523541 1 65237215 [T/C] NM_018211 RAVER2 Silent JHU_1.65237776 1 65237777 [T/G] NM_018211 RAVER2 Silent JHU_1.65238844 1 65238845 [T/G] NM_018211 RAVER2 Silent JHU_1.65241033 1 65241034 [T/C] NM_018211 RAVER2 Silent exm2252619 1 65243316 [T/C] NM_018211 RAVER2 EXON Synonymous_T109T exm66118 1 65243425 [A/G] NM_018211 RAVER2 EXON Missense_I146V Variant37997 1 65243466 [A/G] NM_018211 RAVER2 EXON Synonymous_E159E 1:65243771-GT 1 65243771 [T/G] NM_018211 RAVER2 EXON Missense_C261F 1:65247146-AG-A 1 65247146 [D/I] NM_018211 RAVER2 EXON 1:65247249-CT 1 65247249 [T/C] NM_018211 RAVER2 EXON Missense_R325C rs10493372 1 65250503 [A/G] NM_018211 RAVER2 Silent JHU_1.65251347 1 65251348 [A/G] NM_018211 RAVER2 Silent exm66145 1 65255129 [A/G] NM_018211 RAVER2 EXON Missense_S346N rs139874155 1 65256060 [T/C] NM_018211 RAVER2 Silent rs76068228 1 65257979 [T/C] NM_018211 RAVER2 Silent JHU_1.65259129 1 65259130 [A/C] NM_018211 RAVER2 Silent 1:65270704-GT 1 65270704 [T/G] NM_018211 RAVER2 EXON Missense_V430L rs17126987 1 65271101 [A/G] NM_018211 RAVER2 Silent exm66163 1 65273018 [T/C] NM_018211 RAVER2 EXON Missense_T501M exm66164 1 65273026 [A/G] NM_018211 RAVER2 EXON Missense_M504V exm66166 1 65273077 [A/G] NM_018211 RAVER2 EXON Missense_N521D 1:65273138-GA 1 65273138 [A/G] NM_018211 RAVER2 EXON Missense_G541D rs78913020 1 65274969 [A/T] NM_018211 RAVER2 Silent exm66170 1 65278472 [T/C] NM_018211 RAVER2 EXON Missense_R565W exm66172 1 65280459 [A/G] NM_018211 RAVER2 EXON Missense_S609N rs149901820 1 65280520 [A/G] NM_018211 RAVER2 EXON Synonymous_A629A JHU_1.65280906 1 65280907 [T/C] NM_018211 RAVER2 Silent JHU_1.65282214 1 65282215 [T/C] NM_018211 RAVER2 Silent rs11208527 1 65294331 [A/G] NM_018211 RAVER2 Silent JHU_1.65295856 1 65295857 [A/G] NM_018211 RAVER2 Silent JHU_1.65295915 1 65295916 [A/G] NM_018211 RAVER2 Silent JHU_1.65297152 1 65297153 [T/C] NM_018211 RAVER2 EXON Silent rs1048007 1 65297240 [A/G] NM_018211 RAVER2 EXON Silent rs12353950 1 65299088 [A/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:65300247-AG 1 65300247 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_X1155Q,Missense_X1154Q,Missense_X1155Q,Missense_X1155Q,Missense_X1155Q,Missense_X1155Q,Missense_X1155Q,Missense_X1155Q variant.4023 1 65300334 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Nonsense_Q1126X,Nonsense_Q1125X,Nonsense_Q1126X,Nonsense_Q1126X,Nonsense_Q1126X,Nonsense_Q1126X,Nonsense_Q1126X,Nonsense_Q1126X rs2780815 1 65301611 [T/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:65301804-CA 1 65301804 [A/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_D1079Y,Missense_D1078Y,Missense_D1079Y,Missense_D1079Y,Missense_D1079Y,Missense_D1079Y,Missense_D1079Y,Missense_D1079Y JHU_1.65302438 1 65302439 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65303389 1 65303390 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65304549 1 65304550 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs310242 1 65304550 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65305012 1 65305013 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm66205 1 65305287 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Synonymous_D947D,Synonymous_D946D,Synonymous_D947D,Synonymous_D947D,Synonymous_D947D,Synonymous_D947D,Synonymous_D947D,Synonymous_D947D chr1_65306945 1 65306945 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_I878V,Missense_I877V,Missense_I878V,Missense_I878V,Missense_I878V,Missense_I878V,Missense_I878V,Missense_I878V exm66213 1 65307190 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_N833S,Missense_N832S,Missense_N833S,Missense_N833S,Missense_N833S,Missense_N833S,Missense_N833S,Missense_N833S rs150021823 1 65307212 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_R826C,Missense_R825C,Missense_R826C,Missense_R826C,Missense_R826C,Missense_R826C,Missense_R826C,Missense_R826C rs144281007 1 65308251 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs150123668 1 65309259 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65311116 1 65311117 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2233721 1 65312341 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_D660N,Missense_D659N,Missense_D660N,Missense_D660N,Missense_D660N,Missense_D660N,Missense_D660N,Missense_D660N exm66228 1 65312368 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_V651M,Missense_V650M,Missense_V651M,Missense_V651M,Missense_V651M,Missense_V651M,Missense_V651M,Missense_V651M rs149968614 1 65312368 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_V651M,Missense_V650M,Missense_V651M,Missense_V651M,Missense_V651M,Missense_V651M,Missense_V651M,Missense_V651M ilmnseq_rs869312953 1 65312418 [T/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_A634D,Missense_A633D,Missense_A634D,Missense_A634D,Missense_A634D,Missense_A634D,Missense_A634D,Missense_A634D rs2780897 1 65312994 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:65313321-TC 1 65313321 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_Y598C,Missense_Y597C,Missense_Y598C,Missense_Y598C,Missense_Y598C,Missense_Y598C,Missense_Y598C,Missense_Y598C rs185375209 1 65313949 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs310219 1 65315298 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65318489 1 65318490 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm66238 1 65321324 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_R506C,Missense_R505C,Missense_R506C,Missense_R506C,Missense_R506C,Missense_R506C,Missense_R506C,Missense_R506C 1:65323401-TC 1 65323401 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_R466G,Missense_R466G,Missense_R466G,Missense_R466G,Missense_R466G,Missense_R466G,Missense_R466G,Missense_R466G 1:65323476-C-T 1 65323476 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65326100 1 65326101 [T/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65326925 1 65326926 [G/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm66249 1 65330499 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_S383G,Missense_S383G,Missense_S383G,Missense_S383G,Missense_S383G,Missense_S383G,Missense_S383G,Missense_S383G exm66250 1 65330568 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_R360W,Missense_R360W,Missense_R360W,Missense_R360W,Missense_R360W,Missense_R360W,Missense_R360W,Missense_R360W JHU_1.65330790 1 65330791 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:65332611-CT 1 65332611 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_V310I,Missense_V310I,Missense_V310I,Missense_V310I,Missense_V310I,Missense_V310I,Missense_V310I,Missense_V310I 1:65332824-GA 1 65332824 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_R239W,Missense_R239W,Missense_R239W,Missense_R239W,Missense_R239W,Missense_R239W,Missense_R239W,Missense_R239W 1:65332862-TC 1 65332862 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_N226S,Missense_N226S,Missense_N226S,Missense_N226S,Missense_N226S,Missense_N226S,Missense_N226S,Missense_N226S exm2252624 1 65339122 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y,Synonymous_Y138Y 1:65339124-AG 1 65339124 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_Y138H,Missense_Y138H,Missense_Y138H,Missense_Y138H,Missense_Y138H,Missense_Y138H,Missense_Y138H,Missense_Y138H rs116303405 1 65340851 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3790541 1 65341567 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65344283 1 65344284 [A/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74224772 1 65344386 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65348474 1 65348475 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm66280 1 65348981 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_I62V,Missense_I62V,Missense_I62V,Missense_I62V,Missense_I62V,Missense_I62V,Missense_I62V,Missense_I62V exm66282 1 65349065 [G/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 EXON Missense_P34A,Missense_P34A,Missense_P34A,Missense_P34A,Missense_P34A,Missense_P34A,Missense_P34A,Missense_P34A rs310202 1 65349544 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs310199 1 65350122 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs310248 1 65356763 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7529428 1 65356951 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11585646 1 65358970 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12743599 1 65368042 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65369024 1 65369025 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65375598 1 65375599 [T/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65379282 1 65379283 [T/A] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12563017 1 65381861 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7539178 1 65383002 [A/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65383465 1 65383466 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65384506 1 65384507 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65387836 1 65387837 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10889503 1 65389835 [T/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65390115 1 65390116 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65392497 1 65392498 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65395402 1 65395403 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65400604 1 65400605 [T/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11208549 1 65403109 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7519042 1 65404215 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1353595 1 65405070 [A/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17127168 1 65408513 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs78969683 1 65411289 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65412429 1 65412430 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65418071 1 65418072 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12086824 1 65418072 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65419094 1 65419095 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4916014 1 65421058 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs138211331 1 65424913 [T/C] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4915675 1 65427476 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74889977 1 65429927 [A/G] NM_001321856,NM_001321857,NM_002227,NM_001321854,NM_001321853,NM_001321855,NM_001320923,NM_001321852 JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1,JAK1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7545743 1 65439566 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent JHU_1.65446824 1 65446825 [A/G] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 Silent,Silent,Silent,Silent rs79014323 1 65448991 [A/G] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 Silent,Silent,Silent,Silent rs147780122 1 65454170 [A/G] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 Silent,Silent,Silent,Silent rs11208566 1 65459206 [A/G] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 Silent,Silent,Silent,Silent JHU_1.65460656 1 65460657 [A/C] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 Silent,Silent,Silent,Silent rs3014983 1 65460691 [T/C] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 EXON Silent,Silent,Silent,Silent rs76605343 1 65462686 [T/C] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 Silent,Silent,Silent,Silent rs12117352 1 65464209 [T/C] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 Silent,Silent,Silent,Silent JHU_1.65466197 1 65466198 [A/T] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 Silent,Silent,Silent,Silent rs11590463 1 65467179 [A/C] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 Silent,Silent,Silent,Silent JHU_1.65467362 1 65467363 [T/G] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 Silent,Silent,Silent,Silent JHU_1.65467364 1 65467365 [T/G] NM_001321854,NM_001321853,NM_001321852,NR_119383 JAK1,JAK1,JAK1,LINC01359 Silent,Silent,Silent,Silent JHU_1.65468623 1 65468624 [C/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs555038 1 65472323 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent JHU_1.65477840 1 65477841 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent 1:65479669-G-C 1 65479669 [C/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs513857 1 65487680 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs535857 1 65492194 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent JHU_1.65502526 1 65502527 [T/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs3014974 1 65503789 [T/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs11208572 1 65506089 [T/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs11208574 1 65508424 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs11208576 1 65512968 [A/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs478665 1 65515533 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs17127247 1 65515753 [T/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs6588109 1 65516055 [C/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs72677633 1 65519035 [A/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs526407 1 65519186 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent JHU_1.65520457 1 65520458 [T/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent 1:65521529-A-G 1 65521529 [A/G] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs576563 1 65522102 [T/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs61032917 1 65522818 [G/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs521188 1 65523519 [A/G] NM_001321854,NM_001321853,NM_001321852,NR_037443 JAK1,JAK1,JAK1,MIR3671 EXON Silent,Silent,Silent,Silent JHU_1.65524708 1 65524709 [A/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent JHU_1.65528754 1 65528755 [T/C] NM_001321854,NM_001321853,NM_001321852 JAK1,JAK1,JAK1 Silent,Silent,Silent rs59409703 1 65535046 [A/C] rs6673673 1 65546924 [T/C] rs78589781 1 65548471 [T/G] rs12023280 1 65552976 [A/G] rs2375675 1 65553193 [A/C] rs6699671 1 65557876 [A/C] JHU_1.65565931 1 65565932 [A/G] rs12729349 1 65570028 [A/G] rs17127323 1 65571312 [T/C] JHU_1.65571390 1 65571391 [T/C] JHU_1.65572255 1 65572256 [A/T] JHU_1.65572270 1 65572271 [T/A] rs7524607 1 65573794 [A/G] rs10889520 1 65581487 [A/G] JHU_1.65583438 1 65583439 [A/G] rs11208591 1 65583858 [A/G] rs12566370 1 65584570 [A/G] rs72677657 1 65584846 [T/C] JHU_1.65586679 1 65586680 [A/G] rs76704916 1 65586680 [A/G] rs6696301 1 65586815 [A/G] JHU_1.65592214 1 65592215 [A/T] rs6662542 1 65592505 [T/C] rs17127359 1 65593407 [T/C] rs74080292 1 65598045 [T/C] rs61781801 1 65598137 [A/G] JHU_1.65599603 1 65599604 [A/G] rs7530972 1 65600117 [T/C] rs61781803 1 65601199 [G/C] JHU_1.65604793 1 65604794 [A/G] JHU_1.65607017 1 65607018 [A/G] exm2260561 1 65608909 [A/G] JHU_1.65611085 1 65611086 [A/C] rs2375754 1 65611633 [A/G] JHU_1.65615519 1 65615520 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs10789171 1 65619880 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs6660869 1 65620293 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs12074520 1 65621833 [A/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs143719149 1 65627074 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs1109374 1 65633497 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent 1:65633497-T-C 1 65633497 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65636080 1 65636081 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65636346 1 65636347 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs72677679 1 65636347 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs78513227 1 65638018 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65638110 1 65638111 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs76604385 1 65638306 [A/T] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65639249 1 65639250 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs76790101 1 65639251 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs72677684 1 65641512 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65641894 1 65641895 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65642121 1 65642122 [G/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65643024 1 65643025 [A/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65643348 1 65643349 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs12030227 1 65644186 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65647082 1 65647083 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65648231 1 65648232 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65649332 1 65649333 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs7549901 1 65653425 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65655362 1 65655363 [A/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65656132 1 65656133 [T/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs6677316 1 65658412 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65661033 1 65661034 [A/T] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs10889525 1 65664249 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs77369072 1 65668959 [T/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs58038979 1 65674502 [A/C] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs7526688 1 65674836 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent exm2264849 1 65678454 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent 1:65684762-C-G 1 65684762 [C/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent rs1889925 1 65687556 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65688650 1 65688651 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 Silent,Silent,Silent,Silent JHU_1.65694833 1 65694834 [T/A] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 EXON Silent,Silent,Silent,Silent rs1336472 1 65695930 [A/G] NM_203464,NM_001005353,NM_013410,NM_001330616 AK4,AK4,AK4,AK4 EXON Silent,Silent,Silent,Silent JHU_1.65697841 1 65697842 [A/G] JHU_1.65698178 1 65698179 [A/G] rs72679406 1 65698875 [A/G] rs10465850 1 65699203 [T/C] JHU_1.65699344 1 65699345 [A/G] JHU_1.65700727 1 65700728 [A/G] rs78007650 1 65701309 [A/G] rs115480944 1 65703478 [A/G] rs12032616 1 65703484 [A/G] rs4916033 1 65706458 [T/C] JHU_1.65707510 1 65707511 [A/T] rs7539419 1 65708834 [A/G] rs1889929 1 65710726 [A/G] JHU_1.65711867 1 65711868 [A/T] JHU_1.65717908 1 65717909 [T/A] 1:65720252-GA 1 65720252 [A/G] rs11208616 1 65723851 [A/G] JHU_1.65724847 1 65724848 [C/G] rs149728356 1 65724997 [A/G] rs724685 1 65726516 [A/G] JHU_1.65731970 1 65731971 [A/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs2477786 1 65732242 [T/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs76671816 1 65733928 [G/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs1749972 1 65736258 [A/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent JHU_1.65738373 1 65738374 [T/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs116975575 1 65743224 [A/G] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs141167257 1 65744886 [C/G] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs7511810 1 65753072 [A/G] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs377543128 1 65761960 [A/G] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs2985902 1 65762640 [T/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs77708967 1 65762973 [T/A] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent JHU_1.65771338 1 65771339 [T/A] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent JHU_1.65775320 1 65775321 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Silent,Silent,Silent 1:65775466-AG 1 65775466 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Silent,Silent,Missense_N13S 1:65775532-TG 1 65775532 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Silent,Silent,Missense_V35G rs6677968 1 65776702 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs4147109 1 65782290 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs10493374 1 65783231 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs12096394 1 65798470 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs1359533 1 65803765 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs7528114 1 65805144 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs2375699 1 65808281 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs55664317 1 65811535 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs143736420 1 65813212 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs1413885 1 65815659 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs77443812 1 65815721 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs10789181 1 65816567 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs75813998 1 65822871 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent JHU_1.65830296 1 65830297 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs2296478 1 65830297 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent variant.4026 1 65830473 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs35329755 1 65832014 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs140425847 1 65834224 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent JHU_1.65835562 1 65835563 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent JHU_1.65836614 1 65836615 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65836615-A-G 1 65836615 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs7537733 1 65838229 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs6588140 1 65839065 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65839416-G-T 1 65839416 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65840476-C-G 1 65840476 [C/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs12403430 1 65847766 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65848034-A-C 1 65848034 [A/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs186061249 1 65849909 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_A177T,Missense_A164T,Missense_A234T JHU_1.65851042 1 65851043 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65851393-A-G 1 65851393 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65851439-GA 1 65851439 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_R225H,Missense_R212H,Missense_R282H rs10889546 1 65851759 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66355 1 65852538 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_I290V,Missense_I277V,Missense_I347V rs144323705 1 65852556 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_V296M,Missense_V283M,Missense_V353M exm66357 1 65852556 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_V296M,Missense_V283M,Missense_V353M exm66358 1 65852569 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_M300T,Missense_M287T,Missense_M357T newrs144924736 1 65852612 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Synonymous_K314K,Synonymous_K301K,Synonymous_K371K 1:65854097-CAAGT-C 1 65854097 [I/D] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON seq-rs78141380 1 65855298 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_L429F,Missense_L416F,Missense_L486F exm66373 1 65855298 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_L429F,Missense_L416F,Missense_L486F exm66375 1 65858137 [A/T] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_C441S,Missense_C428S,Missense_C498S exm66379 1 65858222 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_N469S,Missense_N456S,Missense_N526S exm66388 1 65858360 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_A515V,Missense_A502V,Missense_A572V exm66389 1 65858368 [C/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_P518A,Missense_P505A,Missense_P575A 1:65858407-GA 1 65858407 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_G531R,Missense_G518R,Missense_G588R exm66393 1 65858462 [A/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_H549P,Missense_H536P,Missense_H606P JHU_1.65858991 1 65858992 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65859190-C-T 1 65859190 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65859446-G-A 1 65859446 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65861210-T-C 1 65861210 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs11208645 1 65861798 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65861934-A-G 1 65861934 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent JHU_1.65862295 1 65862296 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs10889548 1 65864220 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66411 1 65864561 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_P645S,Missense_P632S,Missense_P702S 1:65867546-CT 1 65867546 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_A680V,Missense_A667V,Missense_A737V 1:65867834-C-T 1 65867834 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs4655762 1 65869274 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent JHU_1.65869488 1 65869489 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent JHU_1.65869575 1 65869576 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65870055-T-C 1 65870055 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66423 1 65871579 [T/A] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_T695S,Missense_T682S,Missense_T752S 1:65871735-C-T 1 65871735 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Nonsense_Q747X,Nonsense_Q734X,Nonsense_Q804X exm66431 1 65871793 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_R766H,Missense_R753H,Missense_R823H exm66432 1 65871805 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_S770L,Missense_S757L,Missense_S827L JHU_1.65872369 1 65872370 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent JHU_1.65872618 1 65872619 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65872812-G-A 1 65872812 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65872981-A-C 1 65872981 [A/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs61781408 1 65873167 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent 1:65873854-C-G 1 65873854 [C/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs3818513 1 65874037 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs79624796 1 65875353 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66442 1 65877013 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_E848D,Missense_E835D,Missense_E905D 1:65877338-T-C 1 65877338 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs12093960 1 65879488 [A/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Silent,Silent,Silent 1:65881115-G-A 1 65881115 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Silent,Silent,Silent JHU_1.65882764 1 65882765 [A/G] 1:65884783-T-C 1 65884783 [T/C] 1:65885569-G-C 1 65885569 [C/G] 1:65886400-C-T 1 65886400 [T/C] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent,Silent rs12145690 1 65887013 [A/C] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent,Silent 1:65887072-C-T 1 65887072 [T/C] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent,Silent 1:65887128-GT 1 65887128 [T/G] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent,Missense_G10V JHU_1.65890235 1 65890236 [T/C] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent,Silent 1:65890676-A-G 1 65890676 [A/G] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent,Silent exm66454 1 65891031 [T/G] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_L21R,Missense_L21R,Silent,Silent,Silent,Missense_L30R 1:65891054-GA 1 65891054 [A/G] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_D29N,Missense_D29N,Silent,Silent,Silent,Missense_D38N 1:65891183-T-A 1 65891183 [T/A] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65891383 1 65891384 [A/G] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65891730 1 65891731 [A/G] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65891853 1 65891854 [T/C] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent,Silent 1:65892321-G-A 1 65892321 [A/G] NM_017526,NM_001198683,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent,Silent rs12077210 1 65894160 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent 1:65894665-C-T 1 65894665 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent rs7534511 1 65895130 [A/G] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent 1:65895582-A-G 1 65895582 [A/G] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_I44V,Silent,Silent,Silent,Missense_I53V exm66458 1 65895599 [T/G] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_H49Q,Silent,Silent,Silent,Missense_H58Q exm66460 1 65895651 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_R67W,Silent,Silent,Silent,Missense_R76W rs9436301 1 65895927 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent 1:65897584-T-C 1 65897584 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Synonymous_F126F,Silent,Silent,Silent,Synonymous_F135F 1:65897603-C-T 1 65897603 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent rs1045895 1 65897981 [A/G] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent 1:65898996-C-T 1 65898996 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent rs75276031 1 65899344 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent 1:65900103-T-A 1 65900103 [A/T] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent 1:65900659-C-T 1 65900659 [T/C] NM_017526,NM_001003680,NM_002303,NM_001003679,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent 1:65904748-C-T 1 65904748 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65906137-A-G 1 65906137 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs970467 1 65906762 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs9436746 1 65908473 [A/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65908684 1 65908685 [A/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65910742-C-T 1 65910742 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65911223-G-A 1 65911223 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs9436748 1 65911672 [T/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs115966259 1 65914515 [T/A] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65923157-C-G 1 65923157 [G/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs72921454 1 65929506 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65937479-A-G 1 65937479 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65938331 1 65938332 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65938669-C-T 1 65938669 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65942120-C-T 1 65942120 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65943396 1 65943397 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs17127656 1 65943471 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs116532789 1 65943923 [T/A] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65945749 1 65945750 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65946121-G-A 1 65946121 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65947044-A-C 1 65947044 [A/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65948791-T-C 1 65948791 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65949817-A-G 1 65949817 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65950228-T-C 1 65950228 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65952710 1 65952711 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65953115 1 65953116 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs17127673 1 65955725 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65957096-A-C 1 65957096 [A/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65957141-C-A 1 65957141 [A/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs1327121 1 65957337 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65957883 1 65957884 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65961186-T-C 1 65961186 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65961203-T-C 1 65961203 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65965566-C-T 1 65965566 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs1327115 1 65966839 [T/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65967009-CT-C 1 65967009 [I/D] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR 1:65969062-C-T 1 65969062 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65969430-C-T 1 65969430 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65969552-G-A 1 65969552 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65970367-G-T 1 65970367 [T/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65970605-T-A 1 65970605 [A/T] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65970925-T-C 1 65970925 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65971461-A-C 1 65971461 [A/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65972055 1 65972056 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65972518-G-A 1 65972518 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65972595-C-G 1 65972595 [G/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65973353-G-A 1 65973353 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65973430-C-T 1 65973430 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65973875-C-T 1 65973875 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65973953-T-C 1 65973953 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65974505 1 65974506 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs6672331 1 65975847 [C/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65976051-A-C 1 65976051 [A/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65976966-A-G 1 65976966 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65977844-C-G 1 65977844 [C/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs2767485 1 65978917 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65978929-T-C 1 65978929 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs11208659 1 65979280 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65979457-C-T 1 65979457 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65979459-T-C 1 65979459 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65980215-G-C 1 65980215 [C/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65980755-G-A 1 65980755 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65980838-C-T 1 65980838 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65982388-G-A 1 65982388 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65982876-A-T 1 65982876 [A/T] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65982875 1 65982876 [A/T] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65983257-C-G 1 65983257 [C/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65983349 1 65983350 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65983626-C-T 1 65983626 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65985506-C-G 1 65985506 [G/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65987164-G-C 1 65987164 [G/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65988093-G-A 1 65988093 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs1171278 1 65988146 [T/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65988379 1 65988380 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65988706-A-G 1 65988706 [A/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent 1:65989878-C-A 1 65989878 [A/C] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent rs76656279 1 65991026 [C/G] NM_001003680,NM_002303,NM_001003679 LEPR,LEPR,LEPR Silent,Silent,Silent JHU_1.65991498 1 65991499 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Silent,Silent,Silent,Silent,Silent,Silent 1:65992140-A-G 1 65992140 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs1751492 1 65992625 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm-rs1751492 1 65992625 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:65993348-G-A 1 65993348 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.65993438 1 65993439 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs6697315 1 65993556 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:65994474-T-A 1 65994474 [T/A] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:65995492-A-G 1 65995492 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:65995701-G-A 1 65995701 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:65996649-TAC-T 1 65996649 [D/I] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR 1:65996802-T-C 1 65996802 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:65997841-G-A 1 65997841 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs10749753 1 65998467 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:65998790-C-T 1 65998790 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs1177681 1 65999119 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:65999811-G-T 1 65999811 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66000034-G-A 1 66000034 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66000437-T-C 1 66000437 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs11208663 1 66000438 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66000533-C-T 1 66000533 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66000659-C-G 1 66000659 [G/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66001402-T-C 1 66001402 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66001746-A-T 1 66001746 [A/T] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66001933-T-C 1 66001933 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66002581-GT-G 1 66002581 [I/D] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR 1:66002660-A-G 1 66002660 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66002996 1 66002997 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs79549563 1 66002997 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66003014-C-G 1 66003014 [C/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66003252-A-G 1 66003252 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66003474-C-A 1 66003474 [A/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66003765-T-A 1 66003765 [A/T] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66003824-T-C 1 66003824 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66003854-T-G 1 66003854 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs74986928 1 66004665 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66006266-A-G 1 66006266 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66007430-C-T 1 66007430 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66007900-C-T 1 66007900 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs12137973 1 66008076 [T/A] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66016301-A-G 1 66016301 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66020840-A-G 1 66020840 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66021351-A-G 1 66021351 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66023716-A-G 1 66023716 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66030581-A-T 1 66030581 [T/A] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66031284-T-C 1 66031284 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_H12H,Synonymous_H12H,Synonymous_H12H,Synonymous_H12H,Synonymous_H12H,Synonymous_H12H 1:66031287-GT 1 66031287 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_W13C,Missense_W13C,Missense_W13C,Missense_W13C,Missense_W13C,Missense_W13C JHU_1.66031527 1 66031528 [T/A] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66032182-T-C 1 66032182 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs10158279 1 66033696 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66033853 1 66033854 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66036295-G-A 1 66036295 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_S60S,Synonymous_S60S,Synonymous_S60S,Synonymous_S60S,Synonymous_S60S,Synonymous_S60S exm66477 1 66036441 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_K109R,Missense_K109R,Missense_K109R,Missense_K109R,Missense_K109R,Missense_K109R 1:66036962-G-A 1 66036962 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66480 1 66038009 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_D124G,Missense_D124G,Missense_D124G,Missense_D124G,Missense_D124G,Missense_D124G exm66482 1 66038068 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L 1:66038666-A-G 1 66038666 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66039317-T-C 1 66039317 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66039424 1 66039425 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66039858-T-G 1 66039858 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66039919-A-G 1 66039919 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs114571106 1 66039955 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs78862345 1 66041013 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66041469-G-T 1 66041469 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66042078-G-T 1 66042078 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66042750-T-C 1 66042750 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66043112-A-G 1 66043112 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66044013-A-G 1 66044013 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs35228056 1 66044553 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66045251-C-T 1 66045251 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs11208675 1 66045424 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66046013-T-C 1 66046013 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66046397-G-A 1 66046397 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66046505-C-T 1 66046505 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs12059300 1 66047072 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66047124 1 66047125 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66047125-T-C 1 66047125 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66047880-G-A 1 66047880 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66047893-A-G 1 66047893 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66048123-A-G 1 66048123 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66048417-A-G 1 66048417 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66049128-C-A 1 66049128 [A/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66049489-A-G 1 66049489 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66049691-A-C 1 66049691 [A/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66049738-G-A 1 66049738 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66051350-G-A 1 66051350 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66052117-G-A 1 66052117 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66052228-A-G 1 66052228 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66052699-C-CT 1 66052699 [I/D] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR rs12042877 1 66053148 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66053192-C-G 1 66053192 [G/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66053489-A-G 1 66053489 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66053556-A-G 1 66053556 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66053620-A-G 1 66053620 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66053790 1 66053791 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs3828037 1 66053797 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66053807 1 66053808 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66053808-T-C 1 66053808 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs61781283 1 66054003 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66054047-T-TA 1 66054047 [I/D] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR rs72683113 1 66055654 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66056052-T-C 1 66056052 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs2154380 1 66057441 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66058368-GA 1 66058368 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V175I,Missense_V175I,Missense_V175I,Missense_V175I,Missense_V175I,Missense_V175I 1:66058420-AC 1 66058420 [A/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_E192A,Missense_E192A,Missense_E192A,Missense_E192A,Missense_E192A,Missense_E192A 1:66058439-G-A 1 66058439 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_V198V,Synonymous_V198V,Synonymous_V198V,Synonymous_V198V,Synonymous_V198V,Synonymous_V198V exm66493 1 66058456 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_K204R,Missense_K204R,Missense_K204R,Missense_K204R,Missense_K204R,Missense_K204R 1:66058463-C-T 1 66058463 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_N206N,Synonymous_N206N,Synonymous_N206N,Synonymous_N206N,Synonymous_N206N,Synonymous_N206N exm66498 1 66058503 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V220I,Missense_V220I,Missense_V220I,Missense_V220I,Missense_V220I,Missense_V220I 1:66058506-A-G 1 66058506 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_I221V,Missense_I221V,Missense_I221V,Missense_I221V,Missense_I221V,Missense_I221V exm66499 1 66058513 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R rs1137101 1 66058513 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R,Missense_Q223R rs200960432 1 66058540 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_I232R,Missense_I232R,Missense_I232R,Missense_I232R,Missense_I232R,Missense_I232R 1:66058540-TG 1 66058540 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_I232R,Missense_I232R,Missense_I232R,Missense_I232R,Missense_I232R,Missense_I232R 1:66059445-T-C 1 66059445 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66059559 1 66059560 [G/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66063117-G-T 1 66063117 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66064368-C-A 1 66064368 [A/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_S292Y,Missense_S292Y,Missense_S292Y,Missense_S292Y,Missense_S292Y,Missense_S292Y 1:66064386-TC 1 66064386 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_I298T,Missense_I298T,Missense_I298T,Missense_I298T,Missense_I298T,Missense_I298T 1:66064470-G-A 1 66064470 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_R326H,Missense_R326H,Missense_R326H,Missense_R326H,Missense_R326H,Missense_R326H rs6700201 1 66064987 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66067109-T-C 1 66067109 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_S343S,Synonymous_S343S,Synonymous_S343S,Synonymous_S343S,Synonymous_S343S,Synonymous_S343S exm66509 1 66067110 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V344I,Missense_V344I,Missense_V344I,Missense_V344I,Missense_V344I,Missense_V344I 1:66067143-A-G 1 66067143 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_K355E,Missense_K355E,Missense_K355E,Missense_K355E,Missense_K355E,Missense_K355E 1:66067188-A-G 1 66067188 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_M370V,Missense_M370V,Missense_M370V,Missense_M370V,Missense_M370V,Missense_M370V 1:66067289-A-G 1 66067289 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_G403G,Synonymous_G403G,Synonymous_G403G,Synonymous_G403G,Synonymous_G403G,Synonymous_G403G exm66515 1 66067326 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y rs17097193 1 66067396 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66067608-A-G 1 66067608 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_S456S,Synonymous_S456S,Synonymous_S456S,Synonymous_S456S,Synonymous_S456S,Synonymous_S456S 1:66067613-C-T 1 66067613 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_A458V,Missense_A458V,Missense_A458V,Missense_A458V,Missense_A458V,Missense_A458V variant.4030 1 66067643 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_R468K,Missense_R468K,Missense_R468K,Missense_R468K,Missense_R468K,Missense_R468K rs72683129 1 66069781 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66070728-C-A 1 66070728 [A/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_L471I,Missense_L471I,Missense_L471I,Missense_L471I,Missense_L471I,Missense_L471I exm66526 1 66070891 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L 1:66072448-A-G 1 66072448 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66072629-G-T 1 66072629 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66072628 1 66072629 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66073357-A-G 1 66073357 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs4606347 1 66073361 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66074467-A-G 1 66074467 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_A545A,Synonymous_A545A,Synonymous_A545A,Synonymous_A545A,Synonymous_A545A,Synonymous_A545A 1:66074533-C-T 1 66074533 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_N567N,Synonymous_N567N,Synonymous_N567N,Synonymous_N567N,Synonymous_N567N,Synonymous_N567N exm66528 1 66074545 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H 1:66074550-G-T 1 66074550 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_R573L,Missense_R573L,Missense_R573L,Missense_R573L,Missense_R573L,Missense_R573L var_1_66074585 1 66074585 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs72641129 1 66075123 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm1863137 1 66075690 [T/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_A605S,Missense_A605S,Missense_A605S,Missense_A605S,Missense_A605S,Missense_A605S exm66534 1 66075712 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H rs144159890 1 66075712 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H rs1805094 1 66075952 [C/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_K656N,Missense_K656N,Missense_K656N,Missense_K656N,Missense_K656N,Missense_K656N 1:66075952-G-C 1 66075952 [C/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_K656N,Missense_K656N,Missense_K656N,Missense_K656N,Missense_K656N,Missense_K656N rs74081930 1 66077617 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs6678033 1 66077624 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66078230-A-G 1 66078230 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66078405-T-C 1 66078405 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66080783 1 66080784 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66080786 1 66080787 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66081729-A-T 1 66081729 [T/A] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_R678S,Missense_R678S,Missense_R678S,Missense_R678S,Missense_R678S,Missense_R678S 1:66081741-C-T 1 66081741 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_N682N,Synonymous_N682N,Synonymous_N682N,Synonymous_N682N,Synonymous_N682N,Synonymous_N682N Variant48561 1 66081746 [A/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_H684P,Missense_H684P,Missense_H684P,Missense_H684P,Missense_H684P,Missense_H684P exm66543 1 66081791 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_T699M,Missense_T699M,Missense_T699M,Missense_T699M,Missense_T699M,Missense_T699M 1:66081792-G-A 1 66081792 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_T699T,Synonymous_T699T,Synonymous_T699T,Synonymous_T699T,Synonymous_T699T,Synonymous_T699T 1:66081866-T-C 1 66081866 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V724A,Missense_V724A,Missense_V724A,Missense_V724A,Missense_V724A,Missense_V724A 1:66082084-A-G 1 66082084 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66082322 1 66082323 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66082471-A-G 1 66082471 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66083197-G-A 1 66083197 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66550 1 66083694 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V754M,Missense_V754M,Missense_V754M,Missense_V754M,Missense_V754M,Missense_V754M exm66552 1 66083782 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T 1:66083804-A-C 1 66083804 [A/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Synonymous_S790S,Synonymous_S790S,Synonymous_S790S,Synonymous_S790S,Synonymous_S790S,Synonymous_S790S 1:66085433-A-G 1 66085433 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66085525-T-A 1 66085525 [A/T] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66085574-T-A 1 66085574 [A/T] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs10889569 1 66086194 [T/A] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs75251769 1 66086525 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66087301-G-C 1 66087301 [C/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66088143-T-C 1 66088143 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66088701-C-A 1 66088701 [A/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs4567312 1 66089582 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66089759-T-C 1 66089759 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs6700896 1 66089782 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm-rs6700896 1 66089782 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66091106-G-A 1 66091106 [A/G] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent 1:66091813-C-G 1 66091813 [G/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Silent,Silent,Silent,Silent,Silent,Missense_P894R 1:66091871-C-T 1 66091871 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Silent,Silent,Silent,Silent,Silent,Silent 1:66091884-T-C 1 66091884 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Silent,Silent,Silent,Silent,Silent,Silent 1:66091887-C-T 1 66091887 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687,NM_001198688 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Silent,Silent,Silent,Silent,Silent,Silent 1:66093030-C-T 1 66093030 [T/C] NM_001003680,NM_002303,NM_001003679,NM_001198689,NM_001198687 LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent 1:66098653-T-C 1 66098653 [T/C] NM_002303,NM_001003679,NM_001198689 LEPR,LEPR,LEPR Silent,Silent,Silent 1:66098900-A-G 1 66098900 [A/G] NM_002303,NM_001003679,NM_001198689 LEPR,LEPR,LEPR EXON Silent,Silent,Silent 1:66099831-C-T 1 66099831 [T/C] NM_002303,NM_001003679,NM_001198689 LEPR,LEPR,LEPR EXON Silent,Silent,Silent 1:66100450-G-A 1 66100450 [A/G] NM_002303,NM_001003679,NM_001198689 LEPR,LEPR,LEPR EXON Silent,Silent,Silent rs150395658 1 66100577 [A/G] NM_002303,NM_001003679,NM_001198689 LEPR,LEPR,LEPR EXON Silent,Silent,Silent 1:66101874-CT 1 66101874 [T/C] NM_002303 LEPR EXON Missense_P892S 1:66101882-G-A 1 66101882 [A/G] NM_002303 LEPR EXON Synonymous_T894T 1:66102018-G-C 1 66102018 [G/C] NM_002303 LEPR EXON Missense_V940L rs193922650 1 66102080 [C/G] NM_002303 LEPR EXON Missense_N960K 1:66102106-G-A 1 66102106 [A/G] NM_002303 LEPR EXON Missense_G969D 1:66102118-CA 1 66102118 [A/C] NM_002303 LEPR EXON Missense_T973N 1:66102128-C-T 1 66102128 [T/C] NM_002303 LEPR EXON Synonymous_D976D 1:66102158-C-T 1 66102158 [T/C] NM_002303 LEPR EXON Synonymous_Y986Y 1:66102224-A-G 1 66102224 [A/G] NM_002303 LEPR EXON Synonymous_S1008S rs1805096 1 66102257 [A/G] NM_002303 LEPR EXON Synonymous_P1019P 1:66102278-T-C 1 66102278 [T/C] NM_002303 LEPR EXON Synonymous_N1026N exm66590 1 66102447 [A/G] NM_002303 LEPR EXON Missense_T1083A 1:66102532-CT 1 66102532 [T/C] NM_002303 LEPR EXON Missense_T1111M 1:66102533-G-A 1 66102533 [A/G] NM_002303 LEPR EXON Synonymous_T1111T rs61781316 1 66102617 [A/G] NM_002303 LEPR EXON Synonymous_A1139A 1:66102617-A-G 1 66102617 [A/G] NM_002303 LEPR EXON Synonymous_A1139A exm66603 1 66102679 [T/C] NM_002303 LEPR EXON Missense_M1160T 1:66102729-A-T 1 66102729 [T/A] NM_002303 LEPR EXON Silent rs191470560 1 66103151 [T/C] NM_002303 LEPR EXON Silent 1:66105512-A-G 1 66105512 [A/G] rs142832105 1 66105691 [A/G] rs1892534 1 66105944 [T/C] exm-rs1892534 1 66105944 [T/C] 1:66107546-G-A 1 66107546 [A/G] 1:66107881-C-A 1 66107881 [A/C] 1:66108063-C-T 1 66108063 [T/C] 1:66108517-C-T 1 66108517 [T/C] 1:66115213-C-G 1 66115213 [C/G] 1:66116691-T-G 1 66116691 [T/G] rs1938492 1 66117829 [A/C] 1:66120916-G-A 1 66120916 [A/G] 1:66123774-A-G 1 66123774 [A/G] rs11812068 1 66125318 [A/C] 1:66125770-G-A 1 66125770 [A/G] 1:66126159-C-T 1 66126159 [T/C] 1:66128211-C-CT 1 66128211 [I/D] rs6664626 1 66128239 [T/G] 1:66128511-A-C 1 66128511 [A/C] 1:66129121-T-C 1 66129121 [T/C] 1:66129530-C-T 1 66129530 [T/C] 1:66131681-C-T 1 66131681 [T/C] 1:66132800-T-A 1 66132800 [T/A] 1:66133950-T-C 1 66133950 [T/C] 1:66134052-T-C 1 66134052 [T/C] JHU_1.66134829 1 66134830 [A/G] 1:66135328-T-A 1 66135328 [T/A] rs12239571 1 66140817 [A/G] rs117502416 1 66142558 [T/C] JHU_1.66142810 1 66142811 [A/T] rs10158937 1 66144876 [A/C] 1:66145753-C-T 1 66145753 [T/C] 1:66147348-A-G 1 66147348 [A/G] 1:66147846-G-T 1 66147846 [T/G] 1:66153349-C-CAGA 1 66153349 [I/D] 1:66153363-C-G 1 66153363 [G/C] 1:66153586-A-C 1 66153586 [A/C] 1:66154414-G-T 1 66154414 [T/G] 1:66155515-T-G 1 66155515 [T/G] 1:66155627-T-C 1 66155627 [T/C] 1:66155972-A-C 1 66155972 [A/C] 1:66156021-G-T 1 66156021 [T/G] 1:66156567-C-T 1 66156567 [T/C] 1:66156730-C-T 1 66156730 [T/C] 1:66158825-C-T 1 66158825 [T/C] JHU_1.66158993 1 66158994 [T/C] 1:66158995-G-A 1 66158995 [A/G] 1:66159877-C-T 1 66159877 [T/C] 1:66160454-C-T 1 66160454 [T/C] 1:66160621-T-C 1 66160621 [T/C] exm-rs4420065 1 66161461 [T/C] rs4420065 1 66161461 [T/C] rs61780862 1 66162360 [A/G] JHU_1.66162612 1 66162613 [T/C] rs6667615 1 66162630 [A/G] 1:66164327-G-C 1 66164327 [C/G] JHU_1.66166252 1 66166253 [A/G] rs7524581 1 66166499 [T/C] 1:66167452-G-A 1 66167452 [A/G] JHU_1.66168212 1 66168213 [T/C] 1:66168499-A-C 1 66168499 [A/C] exm-rs12753193 1 66169679 [A/G] rs17407594 1 66170362 [A/G] rs11208722 1 66171001 [A/C] JHU_1.66171082 1 66171083 [A/G] JHU_1.66171084 1 66171085 [G/C] rs138500260 1 66172428 [T/C] 1:66173384-T-A 1 66173384 [A/T] JHU_1.66173987 1 66173988 [A/G] JHU_1.66174027 1 66174028 [A/G] 1:66174285-C-T 1 66174285 [T/C] rs374356048 1 66174324 [T/G] JHU_1.66174358 1 66174359 [T/C] rs4278348 1 66175395 [T/C] 1:66177862-A-C 1 66177862 [A/C] JHU_1.66180197 1 66180198 [T/G] rs7539471 1 66185403 [A/G] rs12726854 1 66189532 [A/C] rs17127951 1 66190864 [T/A] 1:66191515-C-T 1 66191515 [T/C] rs17127955 1 66193548 [A/G] 1:66194165-C-T 1 66194165 [T/C] JHU_1.66194164 1 66194165 [T/C] 1:66197132-T-G 1 66197132 [T/G] JHU_1.66201444 1 66201445 [T/C] 1:66201632-A-G 1 66201632 [A/G] rs12729385 1 66201971 [G/C] rs10789198 1 66202755 [A/G] rs11208726 1 66205540 [T/C] rs115523492 1 66209126 [A/G] JHU_1.66215435 1 66215436 [T/A] rs78123120 1 66217708 [T/C] JHU_1.66217886 1 66217887 [T/C] rs61780936 1 66217899 [T/C] rs10789200 1 66217988 [T/C] JHU_1.66218194 1 66218195 [T/C] rs4593796 1 66220046 [A/G] JHU_1.66220633 1 66220634 [T/C] rs142183302 1 66227037 [A/G] rs12401401 1 66231308 [A/G] rs147456229 1 66231497 [T/G] rs79314710 1 66231779 [A/G] JHU_1.66233081 1 66233082 [A/C] rs11808116 1 66236207 [T/C] rs12046844 1 66238379 [A/G] JHU_1.66252127 1 66252128 [T/C] JHU_1.66257653 1 66257654 [T/G] JHU_1.66257928 1 66257929 [T/A] JHU_1.66259308 1 66259309 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent JHU_1.66265582 1 66265583 [T/A] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs58244311 1 66266469 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs11208755 1 66269066 [T/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent JHU_1.66276461 1 66276462 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs4384209 1 66279125 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent JHU_1.66279594 1 66279595 [A/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs6685939 1 66280391 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs10889586 1 66281199 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs116245572 1 66290667 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs182232626 1 66303530 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs187075039 1 66303913 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12739892 1 66304567 [T/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent JHU_1.66306703 1 66306704 [T/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs10493388 1 66308651 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent JHU_1.66310121 1 66310122 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent exm-rs10493389 1 66310865 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs79352316 1 66311503 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12125534 1 66311760 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent JHU_1.66314577 1 66314578 [T/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent JHU_1.66314785 1 66314786 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs6684621 1 66315450 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs2801581 1 66326917 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs3924049 1 66336695 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent JHU_1.66336694 1 66336695 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs72685046 1 66337771 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs1316871 1 66339048 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent exm2252660 1 66339048 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12760605 1 66341764 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent JHU_1.66342254 1 66342255 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs11589980 1 66346519 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent JHU_1.66351966 1 66351967 [A/T] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs4655804 1 66352755 [T/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12744291 1 66362971 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent 1:66363409-G-A 1 66363409 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs75028896 1 66366820 [G/C] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent 1:66372879-G-A 1 66372879 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs4329483 1 66374004 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs17128118 1 66374367 [A/G] NM_001297440,NM_001037341,NM_002600 PDE4B,PDE4B,PDE4B Silent,Silent,Silent 1:66379023-CT 1 66379023 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Missense_T9M,Missense_T9M,Missense_T9M newrs141332901 1 66379041 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Missense_V15G rs17417374 1 66379760 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs17451403 1 66387487 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs17451451 1 66388153 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent JHU_1.66388727 1 66388728 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs74920120 1 66390307 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs55824844 1 66392061 [C/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent JHU_1.66393055 1 66393056 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs6664366 1 66395756 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent JHU_1.66397343 1 66397344 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs2997091 1 66399635 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs116591777 1 66405501 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent JHU_1.66406897 1 66406898 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs149522147 1 66407110 [T/A] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs12568672 1 66411430 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent JHU_1.66415493 1 66415494 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs58143568 1 66415575 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs77024117 1 66416908 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs1937455 1 66416939 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent JHU_1.66421124 1 66421125 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs17128154 1 66421304 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent JHU_1.66422443 1 66422444 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs10789205 1 66426100 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent JHU_1.66430764 1 66430765 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent JHU_1.66433803 1 66433804 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs17128166 1 66438365 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs1937457 1 66446787 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent JHU_1.66451633 1 66451634 [T/A] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs2253745 1 66457244 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent JHU_1.66457330 1 66457331 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent exm66612 1 66458614 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Silent,Missense_E9K exm66614 1 66458661 [C/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Silent,Missense_E24D exm66617 1 66458762 [A/T] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Silent,Missense_F58Y rs12566724 1 66460427 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs2503188 1 66461051 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66465543 1 66465544 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs17128207 1 66469002 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs7534143 1 66470379 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs183483085 1 66477499 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs1937451 1 66478644 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs1500957 1 66481799 [C/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66483515 1 66483516 [T/A] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs77781886 1 66492551 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs2455031 1 66492628 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12757542 1 66496108 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs2489920 1 66496827 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs150639116 1 66498121 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs7522003 1 66500298 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent 1:66508288-G-A 1 66508288 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NR_123718 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,LOC101927139 EXON Silent,Silent,Silent,Silent,Silent,Silent rs114165392 1 66508506 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NR_123718 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,LOC101927139 Silent,Silent,Silent,Silent,Silent,Silent rs2270865 1 66508589 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NR_123718 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,LOC101927139 Silent,Silent,Silent,Silent,Silent,Silent rs2228693 1 66509014 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NR_123718 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,LOC101927139 Silent,Silent,Silent,Silent,Silent,Silent exm2252665 1 66509014 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NR_123718 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,LOC101927139 Silent,Silent,Silent,Silent,Silent,Silent rs77061950 1 66510513 [G/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NR_123718 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,LOC101927139 Silent,Silent,Silent,Silent,Silent,Silent rs7530150 1 66513674 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NR_123718 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,LOC101927139 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66513782 1 66513783 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NR_123718 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,LOC101927139 Silent,Silent,Silent,Silent,Silent,Silent rs12040042 1 66517050 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs72667454 1 66520957 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs138931435 1 66522379 [C/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs6588184 1 66524757 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs138599732 1 66528847 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66533780 1 66533781 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66536011 1 66536012 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs7552924 1 66538408 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs884712 1 66541305 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs6588186 1 66547009 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs150232371 1 66547446 [G/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66554144 1 66554145 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66554415 1 66554416 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12406476 1 66555792 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs78475528 1 66557381 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs4655595 1 66558759 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs113098644 1 66564615 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs650440 1 66580943 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs17421832 1 66585962 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12745871 1 66587376 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs539322 1 66589748 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs78681939 1 66595030 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs563573 1 66598763 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs117505473 1 66600575 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs596662 1 66603875 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66605439 1 66605440 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs2503174 1 66609154 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs1604269 1 66615238 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs17128467 1 66620844 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66623513 1 66623514 [T/A] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs2485381 1 66627732 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66643847 1 66643848 [G/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs146155217 1 66645455 [T/A] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs6656638 1 66645924 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12135034 1 66646184 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs526772 1 66649102 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs117392086 1 66649166 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66650465 1 66650466 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66659638 1 66659639 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs11208816 1 66663239 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66664096 1 66664097 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs782417 1 66665247 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12141125 1 66671273 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs17128524 1 66673820 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs486438 1 66674663 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs563080 1 66678209 [A/T] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs1416312 1 66682087 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66686917 1 66686918 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs75447185 1 66691345 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs77510448 1 66692367 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent 1:66693907-T-C 1 66693907 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs6588192 1 66700873 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66703879 1 66703880 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs61335531 1 66704453 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66707496 1 66707497 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs114860594 1 66707497 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66712275 1 66712276 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs7523912 1 66712658 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent exm66621 1 66713196 [G/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_A20G,Missense_A112G,Missense_A112G,Missense_A37G,Missense_A97G rs72641148 1 66714363 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent exm2268897 1 66714584 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12043611 1 66716207 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs148405995 1 66721182 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent variant.4034 1 66723209 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs1321176 1 66723453 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs17459055 1 66724248 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66727152 1 66727153 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs17128694 1 66727585 [G/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs41332246 1 66730479 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs6700403 1 66735601 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs12021574 1 66736001 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs573942 1 66736066 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs72679155 1 66737584 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs144016026 1 66744624 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs594965 1 66747613 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs80002850 1 66753368 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs116834548 1 66755279 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs519044 1 66756717 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs546784 1 66762466 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs524770 1 66766222 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent 1:66767233-T-C 1 66767233 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66770908 1 66770909 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66774218 1 66774219 [A/T] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs7514592 1 66774988 [T/A] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs11803904 1 66781544 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs17128787 1 66781768 [T/A] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66785772 1 66785773 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent JHU_1.66788588 1 66788589 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent rs910693 1 66796248 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent exm2275457 1 66798124 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Silent,Silent,Missense_G18S rs76120951 1 66800224 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs78364122 1 66800604 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs518476 1 66801552 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs1890197 1 66802772 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs1890196 1 66803080 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs11208836 1 66803548 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs17427907 1 66805270 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs145755635 1 66806642 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent JHU_1.66807604 1 66807605 [G/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs74974482 1 66807979 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs55762836 1 66808763 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs10493402 1 66813856 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs55796632 1 66814233 [T/A] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent rs2144719 1 66823134 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent,Silent rs185012908 1 66824374 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17128839 1 66829713 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent,Silent rs28582477 1 66830066 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:66831390-CT 1 66831390 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_A350V,Missense_A442V,Missense_A442V,Missense_A367V,Missense_A427V,Missense_A270V,Missense_A209V 1:66833690-CT 1 66833690 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_T443M,Missense_T535M,Missense_T535M,Missense_T460M,Missense_T520M,Missense_T363M,Missense_T302M rs116312841 1 66834477 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_R465H,Missense_R557H,Missense_R557H,Missense_R482H,Missense_R542H,Missense_R385H,Missense_R324H 1:66834547-CA 1 66834547 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_D488E,Missense_D580E,Missense_D580E,Missense_D505E,Missense_D565E,Missense_D408E,Missense_D347E JHU_1.66835856 1 66835857 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76338325 1 66836310 [T/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.4036 1 66837994 [D/I] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B rs79722858 1 66838076 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Synonymous_L550L,Synonymous_L642L,Synonymous_L642L,Synonymous_L567L,Synonymous_L627L,Synonymous_L470L,Synonymous_L409L exm66704 1 66838203 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_D593N,Missense_D685N,Missense_D685N,Missense_D610N,Missense_D670N,Missense_D513N,Missense_D452N exm66706 1 66838257 [A/T] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_S611C,Missense_S703C,Missense_S703C,Missense_S628C,Missense_S688C,Missense_S531C,Missense_S470C exm66707 1 66838270 [T/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_T615M,Missense_T707M,Missense_T707M,Missense_T632M,Missense_T692M,Missense_T535M,Missense_T474M exm1865410 1 66838314 [A/G] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Missense_T630A,Missense_T722A,Missense_T722A,Missense_T647A,Missense_T707A,Missense_T550A,Missense_T489A rs783067 1 66838733 [A/C] NM_001297440,NM_001037341,NM_002600,NM_001297441,NM_001037340,NM_001037339,NM_001297442 PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77586489 1 66843630 [A/G] rs75302455 1 66846453 [A/G] rs783060 1 66846766 [A/C] JHU_1.66847975 1 66847976 [A/G] rs79835007 1 66848797 [T/C] rs6667969 1 66849760 [T/C] rs79365685 1 66850502 [A/G] rs149173185 1 66851133 [A/G] rs12134195 1 66851542 [A/C] rs72928253 1 66852960 [A/G] rs11589862 1 66852981 [A/C] JHU_1.66854483 1 66854484 [T/A] rs1194486 1 66855387 [A/G] rs12082126 1 66860124 [T/C] rs72674152 1 66861431 [T/C] rs79845321 1 66863371 [T/G] rs11208847 1 66866041 [T/C] rs56904320 1 66868716 [T/C] rs181158225 1 66872925 [A/C] rs12093028 1 66887451 [A/G] JHU_1.66893146 1 66893147 [A/G] JHU_1.66897008 1 66897009 [T/G] rs12140647 1 66905141 [A/C] JHU_1.66907605 1 66907606 [T/G] JHU_1.66908963 1 66908964 [A/C] rs113464184 1 66910956 [T/C] rs783435 1 66915125 [A/G] rs811952 1 66916134 [C/G] JHU_1.66919853 1 66919854 [T/C] rs2312190 1 66919854 [T/C] rs699267 1 66920451 [T/C] rs10889612 1 66920654 [T/C] JHU_1.66923043 1 66923044 [A/G] JHU_1.66923235 1 66923236 [A/C] rs699260 1 66930964 [A/C] rs138143073 1 66932545 [T/C] rs114988469 1 66932644 [A/C] rs699258 1 66934182 [A/C] JHU_1.66934679 1 66934680 [T/C] rs17128938 1 66940704 [A/G] rs783322 1 66941630 [A/C] rs12140300 1 66941782 [T/C] rs699249 1 66942358 [T/C] rs12118088 1 66945188 [A/G] rs814146 1 66945358 [T/C] rs12240061 1 66946277 [T/G] rs4393126 1 66952788 [A/G] rs1025993 1 66957337 [A/C] JHU_1.66958094 1 66958095 [A/G] JHU_1.66958258 1 66958259 [T/C] rs1338211 1 66959434 [T/C] JHU_1.66961842 1 66961843 [A/G] rs188818233 1 66964947 [A/T] rs765685 1 66965475 [A/G] JHU_1.66966333 1 66966334 [T/C] JHU_1.66967964 1 66967965 [A/G] rs7555470 1 66969013 [A/C] rs2121047 1 66969954 [T/C] rs76678503 1 66971936 [T/A] rs6674096 1 66972478 [A/G] JHU_1.66976180 1 66976181 [T/C] JHU_1.66981110 1 66981111 [T/C] rs76975082 1 66982374 [A/G] JHU_1.66983625 1 66983626 [T/C] rs12080693 1 66984425 [T/C] rs7549881 1 66984584 [A/G] rs80126980 1 66985911 [T/C] JHU_1.66986448 1 66986449 [T/C] rs193292411 1 66987041 [A/G] rs12093875 1 66988401 [T/C] rs2121052 1 66988477 [A/G] rs2121053 1 66988499 [A/C] rs56395519 1 66988897 [G/C] rs75873492 1 66990962 [T/C] rs10493407 1 66991699 [T/G] rs1338201 1 66992485 [T/C] JHU_1.66995083 1 66995084 [T/C] rs7532400 1 66998436 [A/C] 1:66998863-T-C 1 66998863 [T/C] rs12081943 1 66999754 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Silent,Silent rs4655616 1 67002765 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs1415974 1 67005503 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs10789208 1 67006399 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67012727 1 67012728 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs17487140 1 67018791 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs77419289 1 67022270 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs55830106 1 67023059 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67023967 1 67023968 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs11208907 1 67023968 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs3795530 1 67028481 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs180732623 1 67029765 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs1338189 1 67030831 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent 1:67037576-T-G 1 67037576 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs117627897 1 67037966 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs187500238 1 67041199 [T/A] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs920987 1 67043120 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67044943 1 67044944 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67045330 1 67045331 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs72676179 1 67045331 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs117493080 1 67045682 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs1867631 1 67046126 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs1445573 1 67047442 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67049594 1 67049595 [T/A] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs144560693 1 67051886 [T/A] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67052060 1 67052061 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67054906 1 67054907 [G/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs56956053 1 67055658 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67055797 1 67055798 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs28439170 1 67059143 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67061385 1 67061386 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs11208917 1 67063385 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs17488431 1 67063911 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs6588207 1 67066555 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs11208920 1 67075312 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs75949757 1 67079861 [G/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67080418 1 67080419 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs76729231 1 67082878 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs11208924 1 67083647 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs4462119 1 67085295 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67090098 1 67090099 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent variant.4037 1 67091593 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_T25I,Missense_T25I,Missense_T25I,Missense_T25I rs5008753 1 67092248 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67096785 1 67096786 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67100088 1 67100089 [T/A] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67100104 1 67100105 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs6696812 1 67100309 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs7515444 1 67100844 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent 1:67101673-CT 1 67101673 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Missense_A49V,Silent variant.4038 1 67101698 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Synonymous_S57S,Silent JHU_1.67105865 1 67105866 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm66728 1 67108538 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_E68K,Missense_E68K,Missense_E92K,Missense_E96K rs7526812 1 67109335 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_K107R,Missense_K107R,Missense_K131R,Missense_K135R exm66735 1 67109335 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_K107R,Missense_K107R,Missense_K131R,Missense_K135R rs148795361 1 67112032 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs6689755 1 67113050 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67115432 1 67115433 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs72669465 1 67115956 [A/T] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs6656705 1 67122504 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs6681460 1 67123057 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm-rs11208940 1 67127242 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm66750 1 67133217 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Missense_R135H,Missense_R159H,Missense_R163H JHU_1.67136844 1 67136845 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs141670118 1 67139150 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67141565 1 67141566 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent variant.4043 1 67142685 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs17129327 1 67143976 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent var_1_67145440 1 67145440 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm66774 1 67147659 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Missense_A308T,Missense_A312T rs17129329 1 67147691 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Synonymous_T318T,Synonymous_T322T exm66776 1 67147696 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Missense_P320L,Missense_P324L 1:67147747-CT 1 67147747 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Missense_P337L,Missense_P341L 1:67147839-CT 1 67147839 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Missense_R368C,Missense_R372C exm66798 1 67148026 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Missense_S430L,Missense_S434L 1:67149871-GA 1 67149871 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent 1:67150750-A-G 1 67150750 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs10789215 1 67151185 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67152996 1 67152997 [A/T] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs117813217 1 67153527 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs116317269 1 67154094 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent 1:67154906-GA 1 67154906 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_R265Q,Missense_R273Q,Missense_R464Q,Missense_R468Q exm1867076 1 67155874 [C/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_S283C,Missense_S291C,Missense_S482C,Missense_S486C JHU_1.67159240 1 67159241 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs11208949 1 67159658 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm2252709 1 67160602 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs1325267 1 67160814 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent indel.4045 1 67161063 [I/D] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 exm66821 1 67161137 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Missense_V340I,Missense_V531I,Missense_V535I rs12117649 1 67168606 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67171977 1 67171978 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67176581 1 67176582 [C/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67177491 1 67177492 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs7515848 1 67188829 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs17440390 1 67190563 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs536410 1 67191084 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs184567057 1 67191918 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent 1:67195012-CT 1 67195012 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_A406V,Missense_A412V,Missense_A603V,Missense_A607V rs9988481 1 67196277 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent rs17129391 1 67199349 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm66839 1 67199543 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_V474I,Missense_V480I,Missense_V671I,Missense_V675I JHU_1.67200188 1 67200189 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent 1:67204454-T-C 1 67204454 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent JHU_1.67204664 1 67204665 [T/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent exm66848 1 67205174 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_D533N,Missense_D539N,Missense_D730N,Missense_D734N JHU_1.67206255 1 67206256 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 Silent,Silent,Silent,Silent 1:67206973-CA 1 67206973 [A/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_A576E,Missense_A582E,Missense_A773E,Missense_A777E 1:67207078-CT 1 67207078 [T/C] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Missense_A611V,Missense_A617V,Missense_A808V,Missense_A812V rs604737 1 67209088 [A/G] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Silent,Silent JHU_1.67213070 1 67213071 [A/T] NM_001308203,NM_001350218,NM_032291,NM_001350217 SGIP1,SGIP1,SGIP1,SGIP1 EXON Silent,Silent,Silent,Silent rs1280309 1 67217254 [C/G] variant.4046 1 67220432 [T/C] NM_152665 TCTEX1D1 EXON Nonsense_R31X exm66873 1 67220450 [T/C] NM_152665 TCTEX1D1 EXON Missense_R37C rs2274987 1 67221387 [T/C] NM_152665 TCTEX1D1 Silent JHU_1.67222004 1 67222005 [T/C] NM_152665 TCTEX1D1 Silent JHU_1.67222303 1 67222304 [A/C] NM_152665 TCTEX1D1 Silent rs502376 1 67222507 [A/G] NM_152665 TCTEX1D1 Silent rs504169 1 67222697 [T/C] NM_152665 TCTEX1D1 Silent rs75585417 1 67225846 [T/C] NM_152665 TCTEX1D1 Silent rs472181 1 67226031 [A/G] NM_152665 TCTEX1D1 Silent rs1391547 1 67231916 [T/C] NM_152665 TCTEX1D1 Silent rs12727422 1 67235320 [A/C] NM_152665 TCTEX1D1 Silent exm66875 1 67236097 [A/T] NM_152665 TCTEX1D1 EXON Missense_E49D variant.4047 1 67236107 [T/C] NM_152665 TCTEX1D1 EXON Nonsense_Q53X JHU_1.67238487 1 67238488 [A/G] NM_152665 TCTEX1D1 Silent JHU_1.67241642 1 67241643 [C/G] NM_152665 TCTEX1D1 Silent exm66887 1 67242087 [A/G] NM_152665 TCTEX1D1 Silent newrs3816989 1 67242087 [A/G] NM_152665 TCTEX1D1 Silent rs2133173 1 67243024 [A/C] NM_152665 TCTEX1D1 EXON Missense_L143I JHU_1.67244422 1 67244423 [C/G] NM_152665 TCTEX1D1 EXON Silent JHU_1.67245507 1 67245508 [T/C] rs36100970 1 67245508 [T/C] JHU_1.67255545 1 67255546 [A/G] JHU_1.67255663 1 67255664 [A/G] JHU_1.67256353 1 67256354 [T/C] rs520717 1 67256885 [A/G] rs11208957 1 67257871 [T/C] rs142882898 1 67258062 [A/G] JHU_1.67258150 1 67258151 [A/T] rs7533363 1 67261079 [T/C] rs74087614 1 67262230 [T/C] rs559809 1 67262748 [A/G] indel.4049 1 67263745 [I/D] NM_005478 INSL5 EXON variant.4050 1 67263752 [A/G] NM_005478 INSL5 EXON Nonsense_Q118X var_1_67263775 1 67263775 [T/G] NM_005478 INSL5 EXON Nonsense_S110X var_1_67263815 1 67263815 [A/G] NM_005478 INSL5 EXON Nonsense_Q97X exm66896 1 67263817 [C/G] NM_005478 INSL5 EXON Missense_G96A exm66898 1 67263829 [T/C] NM_005478 INSL5 EXON Missense_R92H exm1867627 1 67263856 [A/G] NM_005478 INSL5 EXON Missense_P83L exm66900 1 67263892 [T/C] NM_005478 INSL5 EXON Missense_R71H var_1_67266730 1 67266730 [T/C] NM_005478 INSL5 EXON Missense_A59T rs549148 1 67266756 [T/A] NM_005478 INSL5 EXON Missense_Q50L exm1867633 1 67266798 [A/G] NM_005478 INSL5 EXON Missense_T36I exm66910 1 67266823 [A/G] NM_005478 INSL5 EXON Missense_L28F exm66911 1 67266824 [T/A] NM_005478 INSL5 EXON Missense_R27S exm66913 1 67266844 [A/G] NM_005478 INSL5 EXON Missense_R21W 1:67266858-GA 1 67266858 [A/G] NM_005478 INSL5 EXON Missense_A16V exm66915 1 67266874 [A/G] NM_005478 INSL5 EXON Missense_F11L indel.4055 1 67266880 [D/I] NM_005478 INSL5 EXON JHU_1.67269344 1 67269345 [T/C] rs11809759 1 67269905 [A/G] JHU_1.67270787 1 67270788 [A/C] rs78912503 1 67278493 [A/G] exm66917 1 67279835 [A/G] NM_024763 WDR78 EXON Missense_S842F rs7550905 1 67280515 [A/G] NM_024763 WDR78 Silent rs17495916 1 67283439 [T/C] NM_024763 WDR78 Silent rs6690854 1 67283812 [T/G] NM_024763 WDR78 Silent newrs145354917 1 67288044 [A/C] NM_024763 WDR78 EXON Synonymous_R832R exm66924 1 67288045 [T/C] NM_024763 WDR78 EXON Missense_R832Q indel.4057 1 67288063 [D/I] NM_024763 WDR78 EXON 1:67288123-CA 1 67288123 [A/C] NM_024763 WDR78 EXON Missense_C806F indel.4058 1 67288128 [I/D] NM_024763 WDR78 EXON variant.4059 1 67288201 [T/C] NM_024763 WDR78 Silent exm66930 1 67292502 [T/C] NM_024763 WDR78 Silent exm66931 1 67292503 [A/G] NM_024763 WDR78 EXON Missense_T780I exm66935 1 67292545 [T/G] NM_024763 WDR78 EXON Missense_A766E 1:67292563-GA 1 67292563 [A/G] NM_024763 WDR78 EXON Missense_S760F exm66937 1 67292585 [T/C] NM_024763 WDR78 EXON Missense_V753I exm66947 1 67292666 [A/C] NM_024763 WDR78 EXON Missense_D726Y exm66948 1 67292706 [A/C] NM_024763 WDR78 EXON Missense_W712C exm66950 1 67293494 [A/C] NM_024763 WDR78 Silent exm66952 1 67293528 [T/A] NM_024763 WDR78 EXON Missense_N693K exm66955 1 67293582 [G/C] NM_024763 WDR78 EXON Missense_I675M JHU_1.67295232 1 67295233 [A/C] NM_024763 WDR78 Silent rs7548267 1 67297122 [A/G] NM_024763 WDR78 Silent variant.4063 1 67299267 [A/C] NM_024763 WDR78 Silent 1:67299290-AG 1 67299290 [A/G] NM_024763 WDR78 EXON Missense_M664T exm66958 1 67299305 [T/C] NM_024763 WDR78 EXON Missense_R659Q variant.4064 1 67299306 [A/G] NM_024763 WDR78 EXON Nonsense_R659X indel.4065 1 67299345 [I/D] NM_024763 WDR78 EXON variant.4066 1 67299381 [A/G] NM_024763 WDR78 EXON Nonsense_R634X 1:67299672-AG 1 67299672 [A/G] NM_024763 WDR78 Silent variant.4067 1 67299674 [T/C] NM_024763 WDR78 EXON Missense_D631N rs34407103 1 67300523 [A/G] NM_024763 WDR78 Silent JHU_1.67300879 1 67300880 [T/C] NM_024763 WDR78 Silent rs3738168 1 67301096 [T/C] NM_024763 WDR78 Silent var_1_67301308 1 67301308 [A/C] NM_024763 WDR78 Silent 1:67301360-AG 1 67301360 [A/G] NM_024763 WDR78 EXON Missense_I561T 1:67301405-AG 1 67301405 [A/G] NM_024763 WDR78 EXON Missense_I546T JHU_1.67301517 1 67301518 [T/G] NM_024763 WDR78 Silent rs17496172 1 67302410 [T/C] NM_024763 WDR78 Silent exm66974 1 67303346 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Silent,Missense_K543R exm66977 1 67303430 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_R515K,Missense_R515K exm66979 1 67303460 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_Y505S,Missense_Y505S rs11208966 1 67306054 [A/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent exm66981 1 67306176 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_S490R,Missense_S490R newrs143910870 1 67306226 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Nonsense_R474X,Nonsense_R474X rs12030322 1 67306616 [A/G] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent exm66991 1 67313187 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_R424H,Missense_R424H exm66994 1 67313256 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_H401P,Missense_H401P 1:67313290-GA 1 67313290 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_H390Y,Missense_H390Y exm66998 1 67313349 [G/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_S370T,Missense_S370T 1:67313953-GA 1 67313953 [A/G] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs79916150 1 67314162 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs77315241 1 67326278 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent variant.4072 1 67327825 [A/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent exm2252724 1 67327894 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Synonymous_S344S,Synonymous_S344S rs147376010 1 67335795 [A/G] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent 1:67337070-T-A 1 67337070 [T/A] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_I308N,Missense_I308N exm67010 1 67337145 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_N283S,Missense_N283S rs1280338 1 67337285 [A/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs12136037 1 67342533 [A/G] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent JHU_1.67345557 1 67345558 [A/G] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs1925400 1 67352960 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent exm67013 1 67356893 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_I196T,Missense_I196T 1:67358954-TC 1 67358954 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_Y163C,Missense_Y163C exm67018 1 67359042 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_P134T,Missense_P134T exm67019 1 67359053 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_Y130C,Missense_Y130C JHU_1.67360132 1 67360133 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent JHU_1.67361194 1 67361195 [A/G] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs1925407 1 67361670 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs112696479 1 67363656 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs4655511 1 67367878 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs78588854 1 67368210 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent JHU_1.67369759 1 67369760 [A/G] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent 1:67370863-TG 1 67370863 [T/G] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent 1:67370898-TC 1 67370898 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_I111V,Missense_I111V exm67024 1 67370946 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_V95M,Missense_V95M 1:67371055-GT 1 67371055 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_N58K,Missense_N58K JHU_1.67371601 1 67371602 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs72671691 1 67373126 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs12042824 1 67375206 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent 1:67381161-T-G 1 67381161 [T/G] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs67563312 1 67385100 [A/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent JHU_1.67388015 1 67388016 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent exm67033 1 67390438 [T/C] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_G26D,Missense_G26D exm67036 1 67390468 [C/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_G16A,Missense_G16A rs186737069 1 67390858 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:67391914-GA 1 67391914 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_D53N,Missense_D53N,Missense_D53N,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67392888 1 67392889 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12132229 1 67393828 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs148073429 1 67395603 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67408453 1 67408454 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67410403 1 67410404 [T/A] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67410951 1 67410952 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:67411911-CA 1 67411911 [A/C] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_T128K,Missense_T91K,Missense_T91K,Missense_T55K,Missense_T55K,Missense_T11K,Missense_T55K,Missense_T55K,Missense_T55K,Silent,Missense_T38K,Missense_T38K indel.4074 1 67411991 [D/I] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON rs12090955 1 67412261 [T/G] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:67413387-C-T 1 67413387 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11208975 1 67413618 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001278215,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs145124860 1 67416321 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:67423845-GA 1 67423845 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_G185D,Missense_G148D,Missense_G148D,Missense_G112D,Missense_G68D,Missense_G112D,Missense_G112D,Missense_G112D,Missense_G32D,Missense_G95D,Missense_G95D variant.4075 1 67423905 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67057 1 67424637 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_R239H,Missense_R202H,Missense_R202H,Missense_R166H,Missense_R122H,Missense_R166H,Missense_R166H,Missense_R166H,Missense_R86H,Missense_R149H,Missense_R149H rs61780020 1 67428140 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent chr1_67428790 1 67428790 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_M277T,Missense_M240T,Missense_M240T,Missense_M204T,Missense_M160T,Missense_M204T,Missense_M204T,Missense_M204T,Missense_M124T,Missense_M187T,Missense_M187T rs150047309 1 67433085 [T/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs147742172 1 67433499 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79978229 1 67435772 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4553158 1 67436446 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67437945 1 67437946 [T/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67441672 1 67441673 [T/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11208979 1 67442275 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79504347 1 67444490 [T/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:67447524-CA 1 67447524 [A/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_P468H,Missense_P431H,Missense_P431H,Missense_P395H,Missense_P351H,Missense_P395H,Missense_P395H,Missense_P395H,Missense_P315H,Missense_P378H,Missense_P378H exm67080 1 67450263 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_S497P,Missense_S460P,Missense_S460P,Missense_S424P,Missense_S380P,Missense_S424P,Missense_S424P,Missense_S424P,Missense_S344P,Missense_S407P,Missense_S407P variant.4076 1 67450277 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Synonymous_G501G,Silent,Synonymous_G464G,Silent,Synonymous_G384G,Synonymous_G428G,Synonymous_G428G,Synonymous_G428G,Silent,Silent,Synonymous_G411G indel.4077 1 67450286 [D/I] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON exm67083 1 67450334 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Synonymous_T520T,Silent,Synonymous_T483T,Silent,Synonymous_T403T,Synonymous_T447T,Synonymous_T447T,Synonymous_T447T,Silent,Silent,Synonymous_T430T 1:67450388-CAG-C 1 67450388 [D/I] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON 1:67450419-CT 1 67450419 [T/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_H549Y,Silent,Missense_H512Y,Silent,Missense_H432Y,Silent,Missense_H476Y,Missense_H476Y,Silent,Silent,Missense_H459Y exm67089 1 67450431 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_R553G,Silent,Missense_R516G,Silent,Missense_R436G,Silent,Missense_R480G,Missense_R480G,Silent,Silent,Missense_R463G 1:67450456-AG 1 67450456 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_K561R,Silent,Missense_K524R,Silent,Missense_K444R,Silent,Missense_K488R,Missense_K488R,Silent,Silent,Missense_K471R 1KG_1_67450498 1 67450498 [I/D] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON rs189692686 1 67452633 [A/G] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67452722 1 67452723 [A/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17445002 1 67453630 [A/C] NM_001350530,NM_001077703,NM_001077700,NM_001077702,NM_001146112,NM_001146111,NM_001146110,NM_020948,NM_001146113,NM_001077704,NM_001077701 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17497947 1 67457199 [T/G] rs4486425 1 67460791 [T/C] JHU_1.67463428 1 67463429 [T/G] JHU_1.67466001 1 67466002 [A/G] NM_015139 SLC35D1 EXON Silent 1:67470084-TG 1 67470084 [T/G] NM_015139 SLC35D1 EXON Missense_Q336P 1:67470105-TC 1 67470105 [T/C] NM_015139 SLC35D1 EXON Missense_Y329C rs17129595 1 67473378 [A/G] NM_015139 SLC35D1 Silent exm67102 1 67486092 [T/C] NM_015139 SLC35D1 EXON Missense_Y279C exm67104 1 67486114 [T/C] NM_015139 SLC35D1 EXON Missense_A272T exm67106 1 67486131 [T/C] NM_015139 SLC35D1 Silent JHU_1.67487375 1 67487376 [A/C] NM_015139 SLC35D1 Silent rs2755251 1 67496425 [A/C] NM_015139 SLC35D1 Silent JHU_1.67500827 1 67500828 [T/C] NM_015139 SLC35D1 Silent JHU_1.67504536 1 67504537 [A/C] NM_015139 SLC35D1 Silent JHU_1.67507913 1 67507914 [C/G] NM_015139 SLC35D1 Silent rs199561187 1 67507941 [T/C] NM_015139 SLC35D1 EXON Missense_Y236C exm1868328 1 67507941 [T/C] NM_015139 SLC35D1 EXON Missense_Y236C rs2815378 1 67509698 [T/C] NM_015139 SLC35D1 Silent 1:67510474-A-G 1 67510474 [A/G] NM_015139 SLC35D1 Silent rs1024229 1 67512903 [T/G] NM_015139 SLC35D1 Silent 1:67512997-AG 1 67512997 [A/G] NM_015139 SLC35D1 EXON Missense_V196A exm67117 1 67512998 [T/C] NM_015139 SLC35D1 EXON Missense_V196I rs76885353 1 67513281 [A/G] NM_015139 SLC35D1 Silent rs117437548 1 67515138 [A/C] NM_015139 SLC35D1 Silent 1:67515534-CA 1 67515534 [A/C] NM_015139 SLC35D1 Silent rs2755259 1 67517022 [T/C] NM_015139 SLC35D1 Silent variant.4086 1 67517692 [T/C] NM_015139 SLC35D1 Silent 1:67517694-CA 1 67517694 [A/C] NM_015139 SLC35D1 Silent exm67130 1 67518477 [A/G] NM_015139 SLC35D1 EXON Missense_L101F rs10157422 1 67518534 [T/C] NM_015139 SLC35D1 EXON Missense_A82T exm67132 1 67518534 [T/C] NM_015139 SLC35D1 EXON Missense_A82T exm67133 1 67518665 [A/T] NM_015139 SLC35D1 EXON Missense_S71T JHU_1.67518987 1 67518988 [A/C] NM_015139 SLC35D1 Silent JHU_1.67519421 1 67519422 [A/G] NM_015139 SLC35D1 Silent 1:67519558-CT 1 67519558 [T/C] NM_015139 SLC35D1 EXON Missense_G47S 1:67519656-CT 1 67519656 [T/C] NM_015139 SLC35D1 EXON Missense_G14E JHU_1.67520588 1 67520589 [A/C] rs4655670 1 67522666 [A/G] rs184980088 1 67523551 [A/G] rs11208994 1 67525043 [A/G] rs4655513 1 67526071 [A/C] rs76546024 1 67528522 [A/G] rs72673802 1 67530266 [A/G] rs983111 1 67539356 [T/C] JHU_1.67539697 1 67539698 [T/C] JHU_1.67540910 1 67540911 [T/G] rs10789220 1 67551209 [T/C] JHU_1.67555880 1 67555881 [A/G] rs117744703 1 67557672 [A/G] rs11806560 1 67558275 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Silent exm67150 1 67558756 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_E379K indel.4089 1 67558817 [I/D] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON exm67152 1 67558858 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_G345R 1:67558870-CTCATT-C 1 67558870 [I/D] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON 1:67559196-AG 1 67559196 [A/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_L232S 1:67559233-AC 1 67559233 [A/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_L220V rs74078933 1 67559654 [A/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent indel.4094 1 67561030 [D/I] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON exm67184 1 67561087 [A/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_M145R exm67186 1 67561090 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Missense_Q144R newrs145606616 1 67561988 [I/D] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON exm67190 1 67562003 [A/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Synonymous_A187A,Synonymous_A116A JHU_1.67567169 1 67567170 [T/A] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent rs68123283 1 67567333 [A/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent rs1885276 1 67568824 [T/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent Variant12415 1 67568934 [D/I] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON JHU_1.67570357 1 67570358 [T/A] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent rs10749771 1 67573730 [A/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent rs142717234 1 67573797 [T/A] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent 1:67577276-AC 1 67577276 [A/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Missense_L133R,Silent JHU_1.67579336 1 67579337 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Silent rs7520634 1 67580350 [A/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent exm67196 1 67581127 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Missense_E85G,Missense_E85G rs17129664 1 67583298 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent JHU_1.67588900 1 67588901 [T/A] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent rs11209002 1 67590461 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent 1:67591466-CT 1 67591466 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Missense_D68N,Missense_D68N 1:67591487-CT 1 67591487 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Missense_A61T,Missense_A61T exm67198 1 67591496 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Missense_A58T,Missense_A58T rs6670134 1 67592114 [T/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent 1:67592896-CA 1 67592896 [A/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON Silent,Missense_D10Y,Missense_D10Y indel.4097 1 67592910 [I/D] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 EXON JHU_1.67594051 1 67594052 [A/C] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent rs7515029 1 67596372 [A/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent rs3762318 1 67597119 [A/G] NR_075077,NM_001276352,NM_001276351 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent JHU_1.67601083 1 67601084 [A/G] rs10489631 1 67601115 [A/G] exm-rs11209003 1 67601132 [T/G] rs11209003 1 67601132 [T/G] JHU_1.67603832 1 67603833 [A/G] JHU_1.67604701 1 67604702 [C/G] rs10789224 1 67605134 [T/C] rs149984216 1 67606713 [A/G] rs142476020 1 67612873 [A/G] JHU_1.67613393 1 67613394 [A/T] rs72676056 1 67623531 [A/G] rs117633859 1 67627828 [A/G] rs148307672 1 67628325 [A/G] rs10889663 1 67630341 [A/T] 1:67631262-C-T 1 67631262 [T/C] exm67204 1 67633812 [T/G] NM_144701 IL23R EXON Missense_Q3H rs11465771 1 67634106 [A/G] NM_144701 IL23R Silent exm67218 1 67635211 [A/G] NM_144701 IL23R EXON Missense_R86Q rs116730624 1 67636814 [T/C] NM_144701 IL23R Silent exm67221 1 67648596 [A/G] NM_144701 IL23R EXON Missense_G149R rs76418789 1 67648596 [A/G] NM_144701 IL23R EXON Missense_G149R exm2252741 1 67648625 [T/C] NM_144701 IL23R EXON Synonymous_Y158Y exm67222 1 67648625 [T/C] NM_144701 IL23R EXON Synonymous_Y158Y exm67223 1 67648630 [T/C] NM_144701 IL23R EXON Missense_V160A JHU_1.67648658 1 67648659 [T/C] NM_144701 IL23R Silent rs75363634 1 67648659 [T/C] NM_144701 IL23R Silent rs6588248 1 67652984 [T/G] NM_144701 IL23R Silent rs2064689 1 67653010 [A/G] NM_144701 IL23R Silent exm2252742 1 67654110 [A/G] NM_144701 IL23R Silent rs4655690 1 67659896 [A/G] NM_144701 IL23R Silent rs61780311 1 67661307 [G/C] NM_144701 IL23R Silent rs10489630 1 67662622 [A/C] NM_144701 IL23R Silent rs1569923 1 67665210 [A/G] NM_144701 IL23R Silent exm67229 1 67666507 [T/G] NM_144701 IL23R EXON Missense_L193F exm67230 1 67666524 [T/C] NM_144701 IL23R EXON Missense_A199V JHU_1.67669612 1 67669613 [A/G] NM_144701 IL23R Silent rs11580078 1 67669634 [G/C] NM_144701 IL23R Silent ilmnseq_rs11580078_ilmndup1 1 67669634 [G/C] NM_144701 IL23R Silent rs1004819 1 67670213 [A/G] NM_144701 IL23R Silent rs12564022 1 67670755 [T/C] NM_144701 IL23R Silent rs2902440 1 67670916 [A/G] NM_144701 IL23R Silent JHU_1.67671377 1 67671378 [T/A] NM_144701 IL23R Silent rs56698321 1 67671378 [T/A] NM_144701 IL23R Silent 1:67672591-AT 1 67672591 [A/T] NM_144701 IL23R Silent 1:67672602-CT 1 67672602 [T/C] NM_144701 IL23R EXON Missense_S221F 1:67672646-CA 1 67672646 [A/C] NM_144701 IL23R EXON Missense_P236T indel.4100 1 67672658 [I/D] NM_144701 IL23R EXON rs7539625 1 67672765 [A/G] NM_144701 IL23R Silent rs11805303 1 67675516 [T/C] NM_144701 IL23R Silent exm-rs11805303 1 67675516 [T/C] NM_144701 IL23R Silent rs790631 1 67676922 [T/C] NM_144701 IL23R Silent exm-rs7517847 1 67681669 [T/G] NM_144701 IL23R Silent rs7517847 1 67681669 [T/G] NM_144701 IL23R Silent 1:67685287-GA 1 67685287 [A/G] NM_144701 IL23R EXON Missense_V277M 1:67685374-CT 1 67685374 [T/C] NM_144701 IL23R EXON Missense_P306S rs7530511 1 67685387 [T/C] NM_144701 IL23R EXON Missense_L310P exm67244 1 67685387 [T/C] NM_144701 IL23R EXON Missense_L310P rs7518660 1 67685443 [A/G] NM_144701 IL23R Silent 1:67685443-G-A 1 67685443 [A/G] NM_144701 IL23R Silent rs11465802 1 67685598 [A/C] NM_144701 IL23R Silent rs6683640 1 67687766 [T/C] NM_144701 IL23R Silent rs10489629 1 67688349 [T/C] NM_144701 IL23R Silent rs7528924 1 67689036 [A/G] NM_144701 IL23R Silent rs41396545 1 67689608 [A/G] NM_144701 IL23R Silent rs149840639 1 67690596 [T/C] NM_144701 IL23R Silent rs11586237 1 67691766 [T/C] NM_144701 IL23R Silent rs4655693 1 67692286 [A/T] NM_144701 IL23R Silent rs2201841 1 67694202 [A/G] NM_144701 IL23R Silent exm-rs2201841 1 67694202 [A/G] NM_144701 IL23R Silent rs11465804 1 67702526 [T/G] NM_144701 IL23R Silent rs11465805 1 67702603 [A/G] NM_144701 IL23R Silent rs12751814 1 67704863 [A/G] NM_144701 IL23R Silent exm67253 1 67705900 [A/G] NM_144701 IL23R EXON Missense_V362I rs199542433 1 67705932 [C/G] NM_144701 IL23R EXON Missense_L372F rs201752419 1 67705933 [T/A] NM_144701 IL23R EXON Missense_I373F variant.4103 1 67705957 [T/C] NM_144701 IL23R EXON Nonsense_R381X exm67254 1 67705958 [A/G] NM_144701 IL23R EXON Missense_R381Q rs11209026 1 67705958 [A/G] NM_144701 IL23R EXON Missense_R381Q ilmnseq_rs80174646_ilmndup1 1 67708155 [T/G] NM_144701 IL23R Silent rs80174646 1 67708155 [T/G] NM_144701 IL23R Silent rs6682033 1 67708670 [A/G] NM_144701 IL23R Silent rs1343151 1 67719129 [A/G] NM_144701 IL23R Silent rs6693831 1 67720867 [T/C] NM_144701 IL23R Silent rs10889675 1 67722216 [A/C] NM_144701 IL23R Silent rs10889676 1 67722567 [A/C] NM_144701 IL23R Silent 1:67724312-CT 1 67724312 [T/C] NM_144701 IL23R EXON Missense_P464L exm67263 1 67724382 [A/C] NM_144701 IL23R EXON Missense_Q487H 1:67724476-GA 1 67724476 [A/G] NM_144701 IL23R EXON Missense_G519R 1:67724596-AC 1 67724596 [A/C] NM_144701 IL23R EXON Missense_S559R 1:67724684-CA 1 67724684 [A/C] NM_144701 IL23R EXON Missense_T588N rs10889677 1 67725120 [A/C] NM_144701 IL23R EXON Silent exm-rs10889677 1 67725120 [A/C] NM_144701 IL23R EXON Silent rs373551129 1 67725722 [T/C] rs9988642 1 67726104 [T/C] rs6669582 1 67730055 [A/G] rs10789230 1 67730628 [T/G] rs7547569 1 67731368 [T/C] rs79866453 1 67732512 [T/C] rs11209030 1 67737775 [A/C] JHU_1.67739322 1 67739323 [T/C] rs17303361 1 67739824 [A/G] rs11209032 1 67740092 [A/G] rs12568764 1 67740835 [T/G] rs12119179 1 67747415 [A/C] rs924080 1 67760140 [T/C] exm-rs924080 1 67760140 [T/C] JHU_1.67767098 1 67767099 [T/G] JHU_1.67767395 1 67767396 [T/C] JHU_1.67767525 1 67767526 [T/G] JHU_1.67767819 1 67767820 [A/G] JHU_1.67767987 1 67767988 [T/A] rs12131065 1 67769006 [A/G] ilmnseq_rs12131065_ilmndup1 1 67769006 [A/G] rs13374896 1 67769682 [T/C] rs61779787 1 67769859 [A/G] JHU_1.67770277 1 67770278 [A/G] rs72931025 1 67770361 [T/C] rs7548656 1 67770537 [T/C] rs7548827 1 67770730 [T/C] rs11209045 1 67770799 [A/G] rs3762315 1 67772011 [A/G] 1:67772023-A-G 1 67772023 [A/G] rs56187736 1 67772344 [G/C] 1:67772810-C-T 1 67772810 [T/C] exm67275 1 67786061 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_T4A,Missense_T4A,Missense_T4A,Missense_T4A,Silent,Missense_T4A,Silent exm67276 1 67786066 [A/T] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_F5L,Missense_F5L,Missense_F5L,Missense_F5L,Silent,Missense_F5L,Silent exm67277 1 67786076 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_S9P,Missense_S9P,Missense_S9P,Missense_S9P,Silent,Missense_S9P,Silent exm67278 1 67786088 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_M13V,Missense_M13V,Missense_M13V,Missense_M13V,Silent,Missense_M13V,Silent JHU_1.67786712 1 67786713 [T/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4655538 1 67786902 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67282 1 67787286 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Synonymous_D26D,Synonymous_D26D,Synonymous_D26D,Synonymous_D26D,Silent,Synonymous_D26D,Silent indel.4105 1 67787305 [I/D] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON exm67289 1 67787353 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_I49V,Missense_I49V,Missense_I49V,Missense_I49V,Silent,Missense_I49V,Silent exm67296 1 67787420 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_Y71C,Missense_Y71C,Missense_Y71C,Missense_Y71C,Silent,Missense_Y71C,Silent 1:67787428-GT 1 67787428 [T/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_D74Y,Missense_D74Y,Missense_D74Y,Missense_D74Y,Silent,Missense_D74Y,Silent exm67297 1 67787434 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_R76G,Missense_R76G,Missense_R76G,Missense_R76G,Silent,Missense_R76G,Silent 1:67787449-CT 1 67787449 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_H81Y,Missense_H81Y,Missense_H81Y,Missense_H81Y,Silent,Missense_H81Y,Silent indel.4107 1 67787519 [D/I] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON rs17129778 1 67787691 [T/A] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2201584 1 67787715 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67787974 1 67787975 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6672745 1 67788565 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67788564 1 67788565 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent chr1_67792442 1 67792442 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_L130S,Missense_L130S,Missense_L130S,Missense_L130S,Silent,Missense_L130S,Silent exm67298 1 67792499 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_R149Q,Missense_R149Q,Missense_R149Q,Missense_R149Q,Silent,Missense_R149Q,Silent rs10489626 1 67793171 [C/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_67794072 1 67794072 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_67795371 1 67795371 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Nonsense_R256X,Nonsense_R256X,Nonsense_R256X,Nonsense_R256X,Silent,Nonsense_R256X,Silent 1:67795372-GA 1 67795372 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_R256Q,Missense_R256Q,Missense_R256Q,Missense_R256Q,Silent,Missense_R256Q,Silent rs78198420 1 67796346 [T/A] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_N271Y,Missense_N271Y,Missense_N271Y,Missense_N271Y,Silent,Missense_N271Y,Silent exm67320 1 67796454 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_D307N,Missense_D307N,Missense_D307N,Missense_D307N,Silent,Missense_D307N,Silent exm67321 1 67796490 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_E319K,Missense_E319K,Missense_E319K,Missense_E319K,Silent,Missense_E319K,Silent rs75948976 1 67797542 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs60208495 1 67799701 [A/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6693065 1 67800018 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2268898 1 67800712 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67801230 1 67801231 [T/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:67804320-G-GTTA 1 67804320 [I/D] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON exm67324 1 67804336 [T/A] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_M330L,Missense_M330L,Missense_M330L,Missense_M330L,Silent,Missense_M330L,Silent exm67325 1 67804355 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_Y336C,Missense_Y336C,Missense_Y336C,Missense_Y336C,Silent,Missense_Y336C,Silent rs142559833 1 67805856 [C/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67806353 1 67806354 [C/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67808440 1 67808441 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67809868 1 67809869 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3790565 1 67811356 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs118076963 1 67813917 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3790566 1 67814440 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:67816596-AG 1 67816596 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_Q361R,Missense_Q361R,Missense_Q361R,Missense_Q361R,Silent,Missense_Q361R,Silent exm67327 1 67816631 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_M373V,Missense_M373V,Missense_M373V,Missense_M373V,Silent,Missense_M373V,Silent exm67328 1 67816685 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_G391R,Missense_G391R,Missense_G391R,Missense_G391R,Silent,Missense_G391R,Silent exm67329 1 67816689 [A/T] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_N392I,Missense_N392I,Missense_N392I,Missense_N392I,Silent,Missense_N392I,Silent rs61731150 1 67816701 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_A396V,Missense_A396V,Missense_A396V,Missense_A396V,Silent,Missense_A396V,Silent exm67331 1 67816701 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_A396V,Missense_A396V,Missense_A396V,Missense_A396V,Silent,Missense_A396V,Silent exm67336 1 67816772 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_G420R,Missense_G420R,Missense_G420R,Missense_G420R,Silent,Missense_G420R,Silent rs3790567 1 67822377 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs3790567 1 67822377 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67826179 1 67826180 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:67833514-TC 1 67833514 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_L422P,Missense_L422P,Missense_L422P,Missense_L422P,Silent,Missense_L422P,Silent exm67342 1 67833527 [C/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_Q426H,Missense_Q426H,Missense_Q426H,Missense_Q426H,Silent,Missense_Q426H,Silent exm67345 1 67833643 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_G465D,Missense_G465D,Missense_G465D,Missense_G465D,Silent,Missense_G465D,Silent variant.4112 1 67833668 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Nonsense_W473X,Nonsense_W473X,Nonsense_W473X,Nonsense_W473X,Silent,Nonsense_W473X,Silent variant.4113 1 67833678 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Nonsense_R477X,Nonsense_R477X,Nonsense_R477X,Nonsense_R477X,Silent,Nonsense_R477X,Silent JHU_1.67835337 1 67835338 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17129895 1 67836312 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76065243 1 67836702 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10493423 1 67837158 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:67838133-TC 1 67838133 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_Y492H,Missense_Y492H,Missense_Y492H,Missense_Y492H,Silent,Silent,Silent exm67349 1 67838152 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_R498H,Missense_R498H,Missense_R498H,Missense_R498H,Silent,Silent,Silent exm67350 1 67838216 [A/T] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_K519N,Missense_K519N,Missense_K519N,Missense_K519N,Silent,Silent,Silent exm67351 1 67838217 [T/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_A520S,Missense_A520S,Missense_A520S,Missense_A520S,Silent,Silent,Silent JHU_1.67839758 1 67839759 [T/A] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77202193 1 67840092 [G/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67840660 1 67840661 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.4115 1 67845805 [I/D] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON rs881087 1 67846156 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67848901 1 67848902 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67363 1 67852280 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_A625V,Missense_A625V,Missense_A625V,Silent,Missense_A539V,Silent indel.4116 1 67852351 [D/I] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON JHU_1.67852554 1 67852555 [T/A] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7536192 1 67854602 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11209063 1 67855142 [T/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:67855722-TCTC-T 1 67855722 [D/I] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON rs12133473 1 67859548 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.67860322 1 67860323 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:67861254-AG 1 67861254 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Missense_Q627R,Missense_R691G,Synonymous_T657T,Synonymous_T657T,Silent,Missense_R605G,Silent 1:67861270-GT 1 67861270 [T/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Synonymous_L632L,Missense_W696L,Silent,Silent,Silent,Missense_W610L,Silent exm67375 1 67861276 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Synonymous_H634H,Missense_T698M,Silent,Silent,Silent,Missense_T612M,Silent exm67378 1 67861350 [T/A] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_C723S,Silent,Silent,Silent,Missense_C637S,Silent 1:67861389-CT 1 67861389 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_H736Y,Silent,Silent,Silent,Missense_H650Y,Silent 1:67861494-GA 1 67861494 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_E771K,Silent,Silent,Silent,Missense_E685K,Silent 1:67861521-GA 1 67861521 [A/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_E780K,Silent,Silent,Silent,Missense_E694K,Silent exm67389 1 67861690 [C/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_S836C,Silent,Silent,Silent,Missense_S750C,Silent rs147267211 1 67861690 [C/G] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_S836C,Silent,Silent,Silent,Missense_S750C,Silent JHU_1.67862196 1 67862197 [T/C] NM_001258216,NM_001559,NM_001319233,NM_001258214,NR_047583,NM_001258215,NR_047584 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs140953348 1 67863507 [C/G] JHU_1.67874354 1 67874355 [T/C] NM_015640,NM_001018069,NM_001018067,NM_001018068 SERBP1,SERBP1,SERBP1,SERBP1 EXON Silent,Silent,Silent,Silent JHU_1.67875105 1 67875106 [A/C] NM_015640,NM_001018069,NM_001018067,NM_001018068 SERBP1,SERBP1,SERBP1,SERBP1 EXON Silent,Silent,Silent,Silent rs41458747 1 67880342 [G/C] NM_015640,NM_001018069,NM_001018067,NM_001018068 SERBP1,SERBP1,SERBP1,SERBP1 Silent,Silent,Silent,Silent JHU_1.67880396 1 67880397 [A/G] NM_015640,NM_001018069,NM_001018067,NM_001018068 SERBP1,SERBP1,SERBP1,SERBP1 Silent,Silent,Silent,Silent rs143627565 1 67885017 [C/G] NM_015640,NM_001018069,NM_001018067,NM_001018068 SERBP1,SERBP1,SERBP1,SERBP1 Silent,Silent,Silent,Silent indel.4118 1 67890006 [I/D] NM_015640,NM_001018069,NM_001018067,NM_001018068 SERBP1,SERBP1,SERBP1,SERBP1 1:67890887-TC 1 67890887 [T/C] NM_015640,NM_001018069,NM_001018067,NM_001018068 SERBP1,SERBP1,SERBP1,SERBP1 EXON Missense_I162V,Missense_I162V,Missense_I162V,Missense_I162V JHU_1.67891028 1 67891029 [A/C] NM_015640,NM_001018069,NM_001018067,NM_001018068 SERBP1,SERBP1,SERBP1,SERBP1 Silent,Silent,Silent,Silent newrs139147758 1 67891818 [T/C] NM_015640,NM_001018069,NM_001018067,NM_001018068 SERBP1,SERBP1,SERBP1,SERBP1 EXON Missense_R155K,Missense_R155K,Missense_R155K,Missense_R155K rs11209072 1 67908644 [A/G] rs10889687 1 67909782 [A/G] rs12116575 1 67912259 [T/C] JHU_1.67917235 1 67917236 [T/C] JHU_1.67918646 1 67918647 [T/C] JHU_1.67924015 1 67924016 [T/C] rs1340589 1 67924391 [A/G] rs72934917 1 67925615 [T/C] rs12731638 1 67925958 [T/C] rs76705743 1 67930151 [T/C] rs4256786 1 67934430 [A/G] rs12027122 1 67935771 [A/G] JHU_1.67936397 1 67936398 [A/G] JHU_1.67937038 1 67937039 [T/A] rs6700849 1 67937751 [T/G] rs1890929 1 67938108 [A/C] rs149865249 1 67939176 [A/G] rs4655715 1 67944943 [T/C] rs4655716 1 67945005 [A/G] JHU_1.67945219 1 67945220 [T/C] rs17130034 1 67946090 [A/G] JHU_1.67946613 1 67946614 [T/C] JHU_1.67946901 1 67946902 [T/C] rs7554654 1 67953681 [A/G] JHU_1.67954383 1 67954384 [A/G] JHU_1.67962244 1 67962245 [T/C] rs7514743 1 67967813 [A/G] rs9285766 1 67968725 [A/C] rs7513191 1 67972184 [A/C] rs12037907 1 67972435 [A/C] rs10789235 1 67978985 [T/C] rs7538875 1 67980297 [A/C] rs11209099 1 67982128 [A/G] JHU_1.67983242 1 67983243 [T/C] rs11591038 1 67987555 [T/C] rs12088731 1 67988013 [A/G] rs12084042 1 67988171 [T/C] rs11209101 1 67989691 [A/C] JHU_1.67992112 1 67992113 [T/C] JHU_1.67992867 1 67992868 [T/C] JHU_1.67993076 1 67993077 [A/G] rs7524558 1 67993782 [T/C] rs17130077 1 67996086 [A/G] JHU_1.67996213 1 67996214 [A/G] rs7539855 1 67998133 [A/C] 1:67998622-A-G 1 67998622 [A/G] JHU_1.68000181 1 68000182 [T/C] rs144035453 1 68000703 [C/G] rs12088698 1 68000889 [A/G] JHU_1.68000986 1 68000987 [A/C] rs4233318 1 68001373 [T/G] rs4655561 1 68005643 [T/C] JHU_1.68005817 1 68005818 [T/C] rs78086525 1 68007632 [T/C] rs10493425 1 68010127 [A/C] rs12120145 1 68012254 [T/C] rs1340592 1 68021103 [A/G] rs7530157 1 68021906 [T/C] JHU_1.68022387 1 68022388 [A/G] rs74080927 1 68023226 [A/G] rs77511078 1 68023533 [T/C] rs4655735 1 68027219 [A/G] rs76639240 1 68032190 [T/G] rs1538866 1 68032968 [T/A] rs147959888 1 68034776 [A/G] rs12085093 1 68038313 [T/C] JHU_1.68041161 1 68041162 [T/G] rs968544 1 68041561 [T/C] rs787524 1 68041997 [T/C] JHU_1.68044000 1 68044001 [T/C] rs9919329 1 68046274 [T/C] rs787533 1 68046309 [T/C] rs699233 1 68046354 [T/C] JHU_1.68049515 1 68049516 [T/C] rs787538 1 68050630 [T/C] rs72939174 1 68052446 [A/G] JHU_1.68052607 1 68052608 [T/C] rs185702345 1 68053051 [A/T] rs140663371 1 68054121 [T/C] rs56333341 1 68054209 [T/A] JHU_1.68054509 1 68054510 [T/C] rs112472238 1 68054699 [D/I] rs11585171 1 68055347 [A/G] rs1770652 1 68058299 [T/C] JHU_1.68065165 1 68065166 [A/G] JHU_1.68065172 1 68065173 [A/C] JHU_1.68065261 1 68065262 [A/C] rs787508 1 68065339 [A/G] rs2418455 1 68069073 [T/C] rs72682829 1 68071462 [T/C] rs148489651 1 68079131 [T/C] JHU_1.68082597 1 68082598 [T/A] rs12069919 1 68084290 [A/G] exm2264852 1 68084290 [A/G] JHU_1.68084554 1 68084555 [T/C] JHU_1.68085035 1 68085036 [T/C] rs787494 1 68085586 [T/C] rs787492 1 68085913 [T/C] rs74083304 1 68087246 [T/A] rs111684483 1 68088320 [T/C] rs787481 1 68095207 [T/C] rs79069288 1 68096629 [A/G] rs2255046 1 68097480 [T/A] rs72682846 1 68097773 [A/G] rs629112 1 68100394 [A/G] rs79321953 1 68101055 [T/C] rs12132307 1 68101543 [A/G] rs4655567 1 68101640 [C/G] rs57566662 1 68102321 [T/C] rs344924 1 68105453 [A/G] rs11209133 1 68106505 [T/C] JHU_1.68107555 1 68107556 [T/C] JHU_1.68110643 1 68110644 [T/G] rs678720 1 68110761 [A/G] rs687328 1 68110795 [A/G] JHU_1.68111243 1 68111244 [A/T] rs146213465 1 68111519 [A/G] JHU_1.68113011 1 68113012 [T/C] 1:68114939-G-A 1 68114939 [A/G] rs12134425 1 68117203 [T/G] JHU_1.68118673 1 68118674 [A/G] rs660299 1 68119829 [C/G] 1:68119918-C-T 1 68119918 [T/C] rs6588282 1 68121510 [A/G] JHU_1.68122189 1 68122190 [T/A] rs12748843 1 68128130 [A/C] JHU_1.68130563 1 68130564 [A/G] rs114988872 1 68130629 [A/T] JHU_1.68136465 1 68136466 [T/C] rs12405855 1 68136466 [T/C] rs344934 1 68137613 [T/C] rs76117068 1 68145464 [T/C] rs488778 1 68147143 [T/C] rs624790 1 68147774 [T/G] JHU_1.68150672 1 68150673 [A/C] rs1397946 1 68150898 [T/A] NM_001199742,NM_001199741,NM_001924 GADD45A,GADD45A,GADD45A EXON Silent,Silent,Silent rs3783466 1 68151685 [T/C] NM_001199742,NM_001199741,NM_001924 GADD45A,GADD45A,GADD45A Silent,Silent,Silent 1:68151755-TG 1 68151755 [T/G] NM_001199742,NM_001199741,NM_001924 GADD45A,GADD45A,GADD45A EXON Missense_L31R,Silent,Missense_L31R 1:68152065-CA 1 68152065 [A/C] NM_001199742,NM_001199741,NM_001924 GADD45A,GADD45A,GADD45A EXON Silent,Missense_A26E,Missense_A60E 1:68152132-CA 1 68152132 [A/C] NM_001199742,NM_001199741,NM_001924 GADD45A,GADD45A,GADD45A EXON Silent,Nonsense_C48X,Nonsense_C82X rs685724 1 68154693 [T/C] rs2815265 1 68156822 [A/G] JHU_1.68157793 1 68157794 [A/G] JHU_1.68157804 1 68157805 [T/C] rs11583718 1 68158037 [T/C] rs72922726 1 68163104 [A/G] rs72684505 1 68165282 [C/G] rs7419 1 68167491 [T/C] NM_018841 GNG12 EXON Silent JHU_1.68170009 1 68170010 [T/A] NM_018841 GNG12 EXON Silent rs183347842 1 68170815 [A/G] NM_018841 GNG12 EXON Silent exm67467 1 68171216 [T/C] NM_018841 GNG12 EXON Missense_H46R exm67469 1 68171235 [T/C] NM_018841 GNG12 EXON Missense_M40V rs3766252 1 68176214 [A/G] NM_018841 GNG12 Silent JHU_1.68184727 1 68184728 [C/G] NM_018841 GNG12 Silent rs11809014 1 68196980 [T/G] NM_018841 GNG12 Silent JHU_1.68197409 1 68197410 [A/G] NM_018841 GNG12 Silent JHU_1.68197647 1 68197648 [T/C] NM_018841 GNG12 Silent JHU_1.68198868 1 68198869 [T/C] NM_018841 GNG12 Silent rs78768299 1 68199137 [T/C] NM_018841 GNG12 Silent rs188511334 1 68202924 [A/G] NM_018841 GNG12 Silent rs150183550 1 68207018 [T/A] NM_018841 GNG12 Silent rs557986 1 68208946 [T/C] NM_018841 GNG12 Silent JHU_1.68214531 1 68214532 [A/G] NM_018841 GNG12 Silent rs3766270 1 68215424 [T/C] NM_018841 GNG12 Silent JHU_1.68220180 1 68220181 [T/G] NM_018841 GNG12 Silent JHU_1.68226669 1 68226670 [A/T] NM_018841 GNG12 Silent rs7534808 1 68227359 [T/C] NM_018841 GNG12 Silent JHU_1.68232304 1 68232305 [T/C] NM_018841 GNG12 Silent rs12071581 1 68233634 [A/G] NM_018841 GNG12 Silent JHU_1.68234075 1 68234076 [T/C] NM_018841 GNG12 Silent rs72922795 1 68237418 [A/G] NM_018841 GNG12 Silent JHU_1.68240870 1 68240871 [T/C] NM_018841 GNG12 Silent rs1949133 1 68243397 [T/C] NM_018841 GNG12 Silent rs2802462 1 68247614 [A/G] NM_018841 GNG12 Silent rs2667787 1 68248672 [T/C] NM_018841 GNG12 Silent JHU_1.68252751 1 68252752 [A/G] NM_018841 GNG12 Silent rs80142214 1 68252941 [A/C] NM_018841 GNG12 Silent rs17130282 1 68254375 [T/C] NM_018841 GNG12 Silent rs17474410 1 68267243 [T/G] NM_018841 GNG12 Silent rs181439272 1 68268514 [T/C] NM_018841 GNG12 Silent rs72924725 1 68268638 [A/G] NM_018841 GNG12 Silent rs75895430 1 68268784 [C/G] NM_018841 GNG12 Silent rs17130309 1 68278542 [T/C] NM_018841 GNG12 Silent JHU_1.68280398 1 68280399 [T/G] NM_018841 GNG12 Silent rs139519693 1 68283675 [T/G] NM_018841 GNG12 Silent rs75841004 1 68287408 [A/C] NM_018841 GNG12 Silent rs139174990 1 68289118 [T/C] NM_018841 GNG12 Silent rs78511382 1 68290590 [T/C] NM_018841 GNG12 Silent rs2246675 1 68290946 [A/G] NM_018841 GNG12 Silent rs6588283 1 68299797 [T/C] NR_040077 GNG12-AS1 Silent JHU_1.68301810 1 68301811 [T/A] NR_040077 GNG12-AS1 Silent rs6671298 1 68313038 [A/G] NR_040077 GNG12-AS1 Silent rs74081867 1 68314944 [T/C] NR_040077 GNG12-AS1 Silent JHU_1.68317075 1 68317076 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68321185 1 68321186 [A/G] NR_040077 GNG12-AS1 Silent rs114823637 1 68321186 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68321349 1 68321350 [T/C] NR_040077 GNG12-AS1 Silent JHU_1.68322023 1 68322024 [A/G] NR_040077 GNG12-AS1 Silent rs12083149 1 68322290 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68335709 1 68335710 [T/C] NR_040077 GNG12-AS1 Silent rs17476084 1 68340086 [C/G] NR_040077 GNG12-AS1 Silent rs79534271 1 68341251 [T/C] NR_040077 GNG12-AS1 Silent rs7520899 1 68358177 [T/C] NR_040077 GNG12-AS1 Silent rs66496823 1 68363316 [A/G] NR_040077 GNG12-AS1 Silent rs7552577 1 68366925 [A/C] NR_040077 GNG12-AS1 Silent rs11583096 1 68373757 [T/G] NR_040077 GNG12-AS1 Silent rs139197104 1 68384666 [A/C] NR_040077 GNG12-AS1 Silent rs72928853 1 68389174 [T/G] NR_040077 GNG12-AS1 Silent rs7520193 1 68393522 [A/C] NR_040077 GNG12-AS1 Silent rs117033091 1 68399459 [A/G] NR_040077 GNG12-AS1 Silent rs6665420 1 68401005 [A/C] NR_040077 GNG12-AS1 Silent JHU_1.68404921 1 68404922 [T/C] NR_040077 GNG12-AS1 Silent rs78350116 1 68405173 [A/G] NR_040077 GNG12-AS1 Silent rs76205898 1 68405343 [T/C] NR_040077 GNG12-AS1 Silent rs1938426 1 68407584 [T/C] NR_040077 GNG12-AS1 Silent JHU_1.68413774 1 68413775 [T/C] NR_040077 GNG12-AS1 Silent JHU_1.68414362 1 68414363 [C/G] NR_040077 GNG12-AS1 Silent rs12057857 1 68419909 [A/G] NR_040077 GNG12-AS1 Silent rs12029652 1 68423721 [T/C] NR_040077 GNG12-AS1 Silent rs17130402 1 68424715 [A/C] NR_040077 GNG12-AS1 Silent JHU_1.68425042 1 68425043 [T/C] NR_040077 GNG12-AS1 Silent rs12239890 1 68425092 [T/C] NR_040077 GNG12-AS1 Silent exm2260604 1 68428049 [T/C] NR_040077 GNG12-AS1 Silent JHU_1.68431027 1 68431028 [T/C] NR_040077 GNG12-AS1 Silent rs74931185 1 68441591 [A/G] NR_040077 GNG12-AS1 Silent rs11799780 1 68443976 [C/G] NR_040077 GNG12-AS1 Silent rs12061914 1 68446273 [T/C] NR_040077 GNG12-AS1 Silent rs1926284 1 68446291 [T/C] NR_040077 GNG12-AS1 Silent rs6662448 1 68447267 [A/G] NR_040077 GNG12-AS1 Silent rs72932637 1 68450956 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68456803 1 68456804 [A/G] NR_040077 GNG12-AS1 Silent rs75944659 1 68458276 [A/G] NR_040077 GNG12-AS1 Silent rs12040310 1 68458532 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68459327 1 68459328 [A/C] NR_040077 GNG12-AS1 Silent rs138128464 1 68461144 [A/C] NR_040077 GNG12-AS1 Silent rs7513014 1 68461673 [T/C] NR_040077 GNG12-AS1 Silent rs12141436 1 68463212 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68467052 1 68467053 [A/C] NR_040077 GNG12-AS1 Silent rs10889737 1 68468718 [T/C] NR_040077 GNG12-AS1 Silent rs2209620 1 68475955 [A/C] NR_040077 GNG12-AS1 Silent JHU_1.68476011 1 68476012 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68476698 1 68476699 [A/C] NR_040077 GNG12-AS1 Silent JHU_1.68478104 1 68478105 [T/A] NR_040077 GNG12-AS1 Silent rs72932684 1 68478975 [C/G] NR_040077 GNG12-AS1 Silent rs6665020 1 68479283 [T/C] NR_040077 GNG12-AS1 Silent rs11209195 1 68480671 [T/C] NR_040077 GNG12-AS1 Silent JHU_1.68487019 1 68487020 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68487730 1 68487731 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68488646 1 68488647 [A/G] NR_040077 GNG12-AS1 Silent rs116115338 1 68488824 [T/A] NR_040077 GNG12-AS1 Silent rs72668848 1 68491496 [T/G] NR_040077 GNG12-AS1 Silent rs11209202 1 68491726 [T/C] NR_040077 GNG12-AS1 Silent rs10889741 1 68492521 [A/G] NR_040077 GNG12-AS1 Silent rs11209205 1 68499954 [A/G] NR_040077 GNG12-AS1 Silent rs4433365 1 68500883 [G/C] NR_040077 GNG12-AS1 Silent rs79140339 1 68502462 [T/A] NR_040077 GNG12-AS1 Silent JHU_1.68506815 1 68506816 [G/C] NR_040077 GNG12-AS1 Silent rs7550608 1 68508995 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68510463 1 68510464 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68512076 1 68512077 [A/G] NR_040077,NM_004675 GNG12-AS1,DIRAS3 EXON Silent,Silent rs11801053 1 68512171 [T/C] NR_040077,NM_004675 GNG12-AS1,DIRAS3 EXON Silent,Silent chr1_68512596 1 68512596 [T/C] NR_040077,NM_004675 GNG12-AS1,DIRAS3 EXON Silent,Missense_A129T 1:68512658-CT 1 68512658 [T/C] NR_040077,NM_004675 GNG12-AS1,DIRAS3 EXON Silent,Missense_R108Q exm67502 1 68512899 [A/C] NR_040077,NM_004675 GNG12-AS1,DIRAS3 EXON Silent,Missense_A28S JHU_1.68517420 1 68517421 [A/G] NR_040077 GNG12-AS1 Silent JHU_1.68523432 1 68523433 [A/G] NR_040077 GNG12-AS1 Silent rs1430752 1 68524622 [T/C] NR_040077 GNG12-AS1 Silent rs146056998 1 68524778 [C/G] NR_040077 GNG12-AS1 Silent rs269354 1 68531336 [A/G] NR_040077 GNG12-AS1 Silent rs140313866 1 68534192 [A/C] NR_040077 GNG12-AS1 Silent rs72934663 1 68536967 [G/C] NR_040077 GNG12-AS1 Silent rs669923 1 68538268 [T/C] NR_040077 GNG12-AS1 Silent rs115371173 1 68544690 [G/C] NR_040077 GNG12-AS1 Silent JHU_1.68546732 1 68546733 [A/G] NR_040077 GNG12-AS1 Silent rs116938328 1 68547919 [T/C] NR_040077 GNG12-AS1 Silent rs12029236 1 68549605 [A/G] NR_040077 GNG12-AS1 Silent rs17130456 1 68551379 [C/G] NR_040077 GNG12-AS1 Silent rs198866 1 68551909 [T/G] NR_040077 GNG12-AS1 Silent JHU_1.68562866 1 68562867 [T/A] NR_040077 GNG12-AS1 Silent indel.4122 1 68564374 [D/I] NR_040077,NM_001002292 GNG12-AS1,WLS EXON exm67512 1 68564392 [G/C] NR_040077,NM_001002292 GNG12-AS1,WLS EXON Silent,Missense_V519L indel.4123 1 68564393 [I/D] NR_040077,NM_001002292 GNG12-AS1,WLS EXON JHU_1.68565857 1 68565858 [A/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs78821757 1 68566263 [T/A] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent JHU_1.68567076 1 68567077 [A/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent JHU_1.68567447 1 68567448 [A/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent JHU_1.68567621 1 68567622 [G/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs269346 1 68568073 [G/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs140342304 1 68569436 [T/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent JHU_1.68569677 1 68569678 [G/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs9436798 1 68569678 [G/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs6671127 1 68571220 [A/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent JHU_1.68572377 1 68572378 [T/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent JHU_1.68572434 1 68572435 [A/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs269353 1 68574443 [A/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs75178809 1 68575561 [A/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs115270081 1 68576061 [A/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent JHU_1.68576135 1 68576136 [T/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs56218601 1 68578815 [A/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs12726865 1 68579833 [A/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs12134024 1 68581085 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs2566761 1 68581861 [T/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs7530949 1 68581974 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs2566762 1 68582457 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs61737289 1 68583286 [A/C] NR_040077,NM_001002292 GNG12-AS1,WLS EXON Silent,Silent rs117691963 1 68583310 [A/G] NR_040077,NM_001002292 GNG12-AS1,WLS EXON Silent,Silent rs76999445 1 68584231 [T/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent JHU_1.68585782 1 68585783 [A/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs12046920 1 68586620 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs80137893 1 68587794 [T/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent JHU_1.68588052 1 68588053 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent JHU_1.68588819 1 68588820 [A/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs10889748 1 68589935 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs7062 1 68591253 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Silent,Silent,Silent JHU_1.68593234 1 68593235 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68593242 1 68593243 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2566778 1 68596345 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs7552304 1 68597121 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs113970514 1 68599023 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2566781 1 68599056 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs79843167 1 68599677 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2772283 1 68599901 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2566784 1 68602735 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm2264853 1 68603129 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68603130 1 68603131 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm67526 1 68603512 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_M487I,Missense_M489I,Missense_M398I exm67529 1 68603586 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_V463I,Missense_V465I,Missense_V374I exm67530 1 68603612 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_T454M,Missense_T456M,Missense_T365M rs2052959 1 68609491 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent 1:68611559-TC 1 68611559 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_H422R,Missense_H424R,Missense_H333R exm1871452 1 68611566 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R420W,Missense_R422W,Missense_R331W exm67537 1 68611617 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R403W,Missense_R405W,Missense_R314W exm67540 1 68613819 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Synonymous_A376A,Synonymous_A378A,Synonymous_A287A 1:68613868-GA 1 68613868 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_T360M,Missense_T362M,Missense_T271M exm2252792 1 68614320 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Synonymous_I330I,Synonymous_I332I,Synonymous_I241I exm67546 1 68614330 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R327Q,Missense_R329Q,Missense_R238Q chr1_68616010 1 68616010 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_T276N,Missense_T278N,Missense_T187N variant.4125 1 68619222 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Nonsense_R259X,Nonsense_R261X,Nonsense_R170X JHU_1.68622412 1 68622413 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs12733835 1 68622994 [A/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs12070956 1 68623492 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm67567 1 68624879 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_A142V,Missense_A144V,Missense_A53V 1:68624889-GA 1 68624889 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R139C,Missense_R141C,Missense_R50C exm2233768 1 68624921 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_A128V,Missense_A130V,Missense_A39V JHU_1.68626722 1 68626723 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68626868 1 68626869 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68627288 1 68627289 [G/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68627425 1 68627426 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68627531 1 68627532 [C/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68627891 1 68627892 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68628126 1 68628127 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2820489 1 68628540 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2419343 1 68630667 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68632753 1 68632754 [C/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs11587907 1 68634196 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs12132335 1 68634642 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs1430742 1 68635075 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm-rs1430742 1 68635075 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm-rs2566755 1 68635390 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2566755 1 68635390 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2772304 1 68636580 [A/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs4233320 1 68638451 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs17482952 1 68639385 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs35377233 1 68641258 [D/I] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS rs12034358 1 68642569 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs17130546 1 68643147 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs142632075 1 68644017 [T/A] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2419659 1 68645908 [A/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs12407028 1 68647716 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs12133637 1 68647854 [A/T] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68647853 1 68647854 [A/T] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2772300 1 68648026 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs116251444 1 68650633 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs891526 1 68651948 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2026749 1 68653489 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68654775 1 68654776 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs12044635 1 68654776 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2566753 1 68654867 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs114283254 1 68655214 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs1430740 1 68657510 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2820500 1 68658961 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68659046 1 68659047 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm67576 1 68659719 [C/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_H98D,Missense_H100D,Silent 1:68659752-CT 1 68659752 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_D87N,Missense_D89N,Silent 1:68659790-TC 1 68659790 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_D74G,Missense_D76G,Silent rs1036067 1 68660092 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68661818 1 68661819 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs12723245 1 68661819 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs72938563 1 68662494 [G/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs149046697 1 68663375 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68664912 1 68664913 [A/T] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs118180965 1 68664924 [T/C] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68665337 1 68665338 [A/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs34168249 1 68666138 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent JHU_1.68666289 1 68666290 [T/G] NR_040077,NM_001002292,NM_024911,NM_001193334 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2566796 1 68672943 [T/A] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs145674606 1 68673464 [T/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent JHU_1.68677323 1 68677324 [A/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs142188743 1 68677721 [T/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs2566776 1 68678424 [A/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent JHU_1.68679294 1 68679295 [T/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs17130584 1 68679295 [T/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs76039723 1 68680366 [T/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs989842 1 68680929 [T/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent JHU_1.68681840 1 68681841 [T/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs17130585 1 68682111 [T/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs2772286 1 68685389 [T/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs10493436 1 68686391 [A/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs10493438 1 68687697 [T/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs10493439 1 68688069 [A/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent JHU_1.68689822 1 68689823 [A/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent JHU_1.68690340 1 68690341 [A/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent JHU_1.68692233 1 68692234 [T/C] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent rs1430753 1 68692642 [A/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent JHU_1.68694587 1 68694588 [T/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent JHU_1.68695155 1 68695156 [A/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent JHU_1.68695407 1 68695408 [A/T] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent JHU_1.68697653 1 68697654 [A/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS Silent,Silent,Silent exm67586 1 68697881 [C/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS EXON Missense_L34F,Missense_L34F,Missense_L34F indel.4126 1 68697903 [I/D] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS EXON 1:68697908-TG 1 68697908 [T/G] NM_001002292,NM_024911,NM_001193334 WLS,WLS,WLS EXON Missense_Q25H,Missense_Q25H,Missense_Q25H rs2820475 1 68700368 [A/G] rs2772294 1 68703843 [A/G] JHU_1.68703921 1 68703922 [C/G] JHU_1.68704394 1 68704395 [A/T] JHU_1.68706021 1 68706022 [T/C] JHU_1.68712805 1 68712806 [T/C] rs17130627 1 68713347 [T/C] JHU_1.68716541 1 68716542 [A/C] rs6686875 1 68719016 [T/C] JHU_1.68719911 1 68719912 [T/C] rs142742089 1 68720576 [A/G] JHU_1.68721704 1 68721705 [A/G] rs2820481 1 68722924 [T/C] JHU_1.68727845 1 68727846 [A/G] rs7554674 1 68728518 [T/C] rs116361873 1 68728886 [A/G] rs12045284 1 68729652 [A/G] rs142683543 1 68730611 [T/C] rs72940540 1 68730619 [T/C] JHU_1.68731785 1 68731786 [A/G] rs12065581 1 68732819 [A/G] rs885098 1 68733478 [A/G] rs2039153 1 68735899 [A/G] JHU_1.68739029 1 68739030 [T/A] rs10889756 1 68739203 [T/C] rs34908550 1 68740499 [A/G] rs11209245 1 68741305 [T/G] rs58652282 1 68746345 [A/G] rs7536982 1 68748015 [T/C] rs79336045 1 68748103 [T/C] rs72670498 1 68748759 [A/G] JHU_1.68748758 1 68748759 [A/G] JHU_1.68750708 1 68750709 [A/C] rs7546334 1 68750782 [A/G] rs111370000 1 68751174 [T/C] rs3923451 1 68757334 [T/C] rs7541094 1 68764274 [T/G] rs12039098 1 68765106 [A/G] JHU_1.68766217 1 68766218 [A/G] JHU_1.68766958 1 68766959 [A/T] rs74790585 1 68772380 [T/C] rs9436372 1 68773120 [A/G] JHU_1.68774083 1 68774084 [T/G] JHU_1.68778313 1 68778314 [T/C] rs11209261 1 68785213 [A/T] rs75629303 1 68785349 [T/C] rs4244620 1 68787891 [A/C] rs4504926 1 68793891 [A/G] rs76192101 1 68796002 [T/A] rs4926354 1 68803646 [T/C] JHU_1.68816350 1 68816351 [A/G] JHU_1.68818892 1 68818893 [T/C] JHU_1.68820229 1 68820230 [A/G] rs9436812 1 68821539 [T/C] JHU_1.68823080 1 68823081 [T/A] rs76157751 1 68823186 [A/C] JHU_1.68826140 1 68826141 [A/G] JHU_1.68826262 1 68826263 [A/C] JHU_1.68826477 1 68826478 [A/G] rs77930032 1 68828394 [T/C] rs77796113 1 68835103 [A/G] JHU_1.68835627 1 68835628 [T/C] JHU_1.68836551 1 68836552 [A/T] JHU_1.68837168 1 68837169 [A/C] rs146295856 1 68837461 [A/G] JHU_1.68838115 1 68838116 [A/G] rs149815745 1 68838545 [T/C] rs3118386 1 68839242 [T/C] rs74084329 1 68840701 [T/C] JHU_1.68840811 1 68840812 [A/G] rs1952124 1 68842068 [A/G] rs9436816 1 68847248 [T/C] JHU_1.68847714 1 68847715 [A/G] rs3118378 1 68849687 [A/G] rs113963444 1 68850679 [A/G] rs7515572 1 68851568 [T/C] rs3125923 1 68858479 [A/G] rs3125929 1 68865445 [A/G] rs142482526 1 68866411 [A/G] rs7527187 1 68867655 [A/T] rs3118394 1 68872949 [C/G] rs11209295 1 68873255 [T/G] JHU_1.68873427 1 68873428 [A/G] rs12021538 1 68874543 [T/G] rs1925952 1 68875372 [A/G] JHU_1.68876875 1 68876876 [T/C] JHU_1.68878454 1 68878455 [T/C] rs10493443 1 68884722 [T/C] rs12403707 1 68886499 [A/G] rs190006377 1 68888105 [A/C] rs4264030 1 68893754 [A/G] rs2419988 1 68893832 [T/C] rs121917745 1 68895518 [A/G] NM_000329 RPE65 EXON Missense_R515W ilmnseq_rs62653015 1 68895610 [T/C] NM_000329 RPE65 EXON Missense_G484D Variant48567 1 68896828 [T/G] NM_000329 RPE65 EXON Missense_T457N seq-rs786205444 1 68896832 [D/I] NM_000329 RPE65 EXON exm67606 1 68897002 [A/G] NM_000329 RPE65 EXON Missense_A434V var_1_68897011 1 68897011 [T/C] NM_000329 RPE65 EXON Missense_Y431C rs62636300 1 68897011 [T/C] NM_000329 RPE65 EXON Missense_Y431C Variant48569 1 68897177 [A/G] NM_000329 RPE65 EXON Missense_V407A variant.4131 1 68897192 [T/C] NM_000329 RPE65 EXON Nonsense_W402X exm67614 1 68897202 [T/C] NM_000329 RPE65 EXON Missense_E399K exm1872588 1 68897243 [A/G] NM_000329 RPE65 EXON Missense_T385M rs77585943 1 68897945 [G/C] NM_000329 RPE65 Silent rs11581095 1 68899660 [A/G] NM_000329 RPE65 Silent variant.4132 1 68903896 [A/G] NM_000329 RPE65 EXON Missense_Y368H rs62653011 1 68903896 [A/G] NM_000329 RPE65 EXON Missense_Y368H exm67620 1 68903928 [T/G] NM_000329 RPE65 EXON Missense_A357D rs187198628 1 68903928 [T/G] NM_000329 RPE65 EXON Missense_A357D rs3125902 1 68904266 [T/C] NM_000329 RPE65 Silent JHU_1.68904570 1 68904571 [T/C] NM_000329 RPE65 Silent Variant48575 1 68904634 [T/C] NM_000329 RPE65 EXON Missense_C330Y indel.4133 1 68904643 [D/I] NM_000329 RPE65 EXON 1:68904660-AC 1 68904660 [A/C] NM_000329 RPE65 EXON Missense_N321K rs61752904 1 68904716 [T/A] NM_000329 RPE65 EXON Nonsense_K303X 1:68904716-A-T 1 68904716 [T/A] NM_000329 RPE65 EXON Nonsense_K303X rs61752901 1 68904742 [T/G] NM_000329 RPE65 EXON Missense_K294T exm2233773 1 68904742 [T/G] NM_000329 RPE65 EXON Missense_K294T rs74081924 1 68904787 [T/C] NM_000329 RPE65 Silent exm67628 1 68904887 [T/C] NM_000329 RPE65 EXON Missense_N282S variant.4136 1 68904986 [T/C] NM_000329 RPE65 EXON Missense_Y249C exm67632 1 68905294 [G/C] NM_000329 RPE65 EXON Missense_I225M 1:68905298-TG 1 68905298 [T/G] NM_000329 RPE65 EXON Missense_E224A variant.4137 1 68905299 [A/C] NM_000329 RPE65 EXON Nonsense_E224X Variant48582 1 68906565 [T/C] NM_000329 RPE65 EXON Missense_N205S Variant48583 1 68906635 [A/G] NM_000329 RPE65 EXON Missense_H182Y Variant48584 1 68906680 [A/C] NM_000329 RPE65 EXON Missense_D167Y rs61752883 1 68906680 [A/C] NM_000329 RPE65 EXON Missense_D167Y JHU_1.68907526 1 68907527 [A/C] NM_000329 RPE65 Silent rs17130694 1 68909113 [T/C] NM_000329 RPE65 Silent Variant48585 1 68910225 [T/G] NM_000329 RPE65 EXON Missense_T162P Variant48586 1 68910252 [T/C] NM_000329 RPE65 EXON Missense_T153A chr1_68910276 1 68910276 [T/C] NM_000329 RPE65 EXON Missense_A145T JHU_1.68910309 1 68910310 [A/G] NM_000329 RPE65 EXON Synonymous_L133L exm67645 1 68910315 [T/C] NM_000329 RPE65 EXON Missense_A132T variant.4139 1 68910454 [T/G] NM_000329 RPE65 Silent Variant48590 1 68910508 [A/C] NM_000329 RPE65 EXON Nonsense_E102X ilmnseq_rs62642584 1 68910508 [A/C] NM_000329 RPE65 EXON Nonsense_E102X exm67647 1 68910514 [T/G] NM_000329 RPE65 EXON Missense_I100L 1:68910517-CT 1 68910517 [T/C] NM_000329 RPE65 EXON Missense_V99I newrs61752873 1 68910540 [T/C] NM_000329 RPE65 EXON Missense_R91Q 1:68912414-CT 1 68912414 [T/C] NM_000329 RPE65 EXON Missense_G75E rs201062742 1 68912414 [T/C] NM_000329 RPE65 EXON Missense_G75E Variant48593 1 68912436 [A/G] NM_000329 RPE65 EXON Missense_H68Y Variant48594 1 68912507 [T/C] NM_000329 RPE65 EXON Missense_R44Q variant.4142 1 68912508 [A/G] NM_000329 RPE65 EXON Nonsense_R44X rs61751281 1 68912520 [T/C] NM_000329 RPE65 EXON Missense_G40S exm2252809 1 68912755 [T/C] NM_000329 RPE65 Silent rs3118423 1 68912937 [T/G] NM_000329 RPE65 Silent Variant48596 1 68914327 [A/G] NM_000329 RPE65 EXON Missense_P25L Variant48597 1 68914336 [A/G] NM_000329 RPE65 EXON Missense_L22P rs192622985 1 68914717 [C/G] NM_000329 RPE65 Silent rs61751276 1 68915573 [T/C] NM_000329 RPE65 Silent newrs61751276 1 68915573 [T/C] NM_000329 RPE65 Silent rs382422 1 68916123 [G/C] rs138761471 1 68916770 [A/G] rs2477974 1 68917282 [A/G] JHU_1.68919564 1 68919565 [A/G] rs11579543 1 68921635 [T/C] rs113924410 1 68923240 [T/C] rs116181180 1 68923610 [A/G] rs435066 1 68927513 [T/C] JHU_1.68928616 1 68928617 [A/G] rs1925961 1 68930300 [T/G] rs10889769 1 68931366 [A/G] rs12744671 1 68931922 [A/C] rs1924544 1 68933744 [A/G] rs451524 1 68933774 [A/G] rs2477082 1 68934661 [A/G] JHU_1.68934901 1 68934902 [T/C] rs7527841 1 68936124 [T/G] JHU_1.68938025 1 68938026 [T/G] JHU_1.68938208 1 68938209 [A/G] rs118038399 1 68940361 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Silent JHU_1.68941846 1 68941847 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Silent JHU_1.68942432 1 68942433 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Silent variant.4148 1 68942738 [A/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Nonsense_Y487X,Nonsense_Y771X exm67682 1 68944843 [T/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_Y415C,Missense_Y699C JHU_1.68945934 1 68945935 [A/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 Silent,Silent JHU_1.68946786 1 68946787 [A/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 Silent,Silent exm67689 1 68947133 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_T358M,Missense_T642M 1:68947837-CT 1 68947837 [T/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Missense_E552K 1:68947846-TG 1 68947846 [T/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Missense_M549L indel.4150 1 68947877 [I/D] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON 1:68947936-TC 1 68947936 [T/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Missense_T519A exm67712 1 68948280 [A/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Missense_I404R 1:68948395-GA 1 68948395 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Silent,Nonsense_Q366X exm67720 1 68949665 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_F293S,Missense_F293S JHU_1.68950179 1 68950180 [A/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 Silent,Silent JHU_1.68950636 1 68950637 [A/T] NM_017779,NM_001114120 DEPDC1,DEPDC1 Silent,Silent 1:68952663-GT 1 68952663 [T/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_D242E,Missense_D242E exm1872980 1 68954662 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_I176T,Missense_I176T variant.4153 1 68955130 [T/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 Silent,Silent 1:68955256-CT 1 68955256 [T/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_R117Q,Missense_R117Q JHU_1.68958623 1 68958624 [A/G] NM_017779,NM_001114120 DEPDC1,DEPDC1 Silent,Silent 1:68960353-CT 1 68960353 [T/C] NM_017779,NM_001114120 DEPDC1,DEPDC1 EXON Missense_R25Q,Missense_R25Q rs6694935 1 68963397 [T/C] NR_110671 DEPDC1-AS1 Silent rs7554119 1 68965439 [T/G] NR_110671 DEPDC1-AS1 Silent exm-rs7554119 1 68965439 [T/G] NR_110671 DEPDC1-AS1 Silent rs115929144 1 68970624 [A/G] NR_110671 DEPDC1-AS1 Silent rs6588326 1 68984066 [T/C] NR_110671 DEPDC1-AS1 Silent JHU_1.68986966 1 68986967 [T/C] NR_110671 DEPDC1-AS1 Silent rs2147317 1 68990012 [T/C] NR_110671 DEPDC1-AS1 Silent rs17473413 1 68993460 [A/G] NR_110671 DEPDC1-AS1 Silent rs1159579 1 68994335 [A/C] NR_110671 DEPDC1-AS1 Silent rs147801757 1 68994938 [A/G] NR_110671 DEPDC1-AS1 Silent rs78161874 1 68995628 [A/G] NR_110671 DEPDC1-AS1 Silent JHU_1.68995820 1 68995821 [T/G] NR_110671 DEPDC1-AS1 Silent rs75302418 1 68995894 [A/G] NR_110671 DEPDC1-AS1 Silent rs12073375 1 68996393 [C/G] NR_110671 DEPDC1-AS1 Silent rs10889777 1 68999239 [A/G] NR_110671 DEPDC1-AS1 Silent rs912499 1 69003582 [T/C] NR_110671 DEPDC1-AS1 EXON Silent JHU_1.69004663 1 69004664 [T/A] rs12756859 1 69009194 [T/C] rs75627659 1 69009950 [T/C] rs116901367 1 69013456 [A/G] rs1924526 1 69025090 [A/G] JHU_1.69025949 1 69025950 [T/G] rs72674394 1 69026804 [A/G] rs72674396 1 69027595 [A/C] rs138075116 1 69030060 [A/G] rs12758584 1 69034218 [A/G] rs3892217 1 69034457 [T/C] 1:69041634-A-G 1 69041634 [A/G] rs12406361 1 69045273 [A/G] JHU_1.69046881 1 69046882 [T/C] 1:69047753-T-G 1 69047753 [T/G] rs147538663 1 69048231 [A/G] JHU_1.69053668 1 69053669 [T/C] rs2064375 1 69053937 [T/C] JHU_1.69054503 1 69054504 [A/C] rs72676321 1 69057506 [A/G] rs78931548 1 69058017 [T/C] rs116240466 1 69058132 [A/C] JHU_1.69067442 1 69067443 [A/G] rs2473770 1 69070452 [A/G] rs2507209 1 69070945 [T/C] rs72676338 1 69076453 [A/C] rs376863095 1 69082531 [T/C] rs742685 1 69085204 [T/C] rs11209332 1 69088662 [A/G] rs146847333 1 69092591 [C/G] rs11209333 1 69099017 [T/C] rs17130778 1 69099361 [A/G] rs2206774 1 69099612 [T/C] rs2206775 1 69099760 [A/C] JHU_1.69101496 1 69101497 [A/G] rs147222220 1 69103448 [T/C] rs116951900 1 69107450 [A/G] JHU_1.69108245 1 69108246 [A/G] JHU_1.69112705 1 69112706 [T/G] JHU_1.69113243 1 69113244 [A/C] JHU_1.69120176 1 69120177 [A/G] rs77967137 1 69128700 [A/G] rs1738013 1 69133160 [T/C] rs699225 1 69136713 [A/G] rs145363361 1 69137752 [A/G] rs72676384 1 69140200 [T/C] 1:69141486-A-G 1 69141486 [A/G] rs147006730 1 69145659 [T/C] rs78018082 1 69147143 [T/C] JHU_1.69154408 1 69154409 [T/A] JHU_1.69154554 1 69154555 [A/G] 1:69156718-C-T 1 69156718 [T/C] JHU_1.69156819 1 69156820 [A/G] rs182263017 1 69157688 [A/G] rs854285 1 69158190 [T/G] JHU_1.69159195 1 69159196 [T/A] JHU_1.69161814 1 69161815 [A/G] rs860534 1 69162800 [A/G] rs12405430 1 69168941 [T/G] rs144659889 1 69169709 [T/C] rs75307593 1 69172782 [T/C] rs1018418 1 69174297 [A/C] rs147025071 1 69176172 [T/C] JHU_1.69177015 1 69177016 [T/C] rs116585526 1 69178559 [T/C] JHU_1.69180958 1 69180959 [T/C] JHU_1.69183067 1 69183068 [T/A] rs7541833 1 69184038 [A/G] rs854286 1 69184214 [A/G] rs76770985 1 69186134 [A/G] rs150985159 1 69186599 [A/G] rs11802210 1 69192730 [T/C] JHU_1.69194481 1 69194482 [A/G] rs139561734 1 69194911 [T/C] JHU_1.69198838 1 69198839 [A/C] JHU_1.69211343 1 69211344 [T/C] rs61783003 1 69213362 [C/G] rs4140577 1 69217209 [A/C] rs76825167 1 69219662 [A/G] JHU_1.69232504 1 69232505 [T/C] rs59355678 1 69236229 [T/C] rs6692084 1 69239442 [A/C] rs854273 1 69243474 [A/C] JHU_1.69248841 1 69248842 [A/G] rs12082973 1 69254610 [A/G] JHU_1.69259250 1 69259251 [A/C] rs75293230 1 69261275 [T/C] rs12760956 1 69263276 [T/C] JHU_1.69263392 1 69263393 [T/C] kgp3280388 1 69265453 [T/C] rs139522248 1 69279253 [A/G] JHU_1.69288351 1 69288352 [A/G] JHU_1.69288750 1 69288751 [A/G] JHU_1.69290224 1 69290225 [A/G] JHU_1.69290232 1 69290233 [A/G] rs138736119 1 69293157 [T/A] rs4406675 1 69297116 [T/C] rs113434009 1 69297649 [T/C] rs1492072 1 69300639 [T/A] JHU_1.69301218 1 69301219 [T/C] rs72934544 1 69309911 [C/G] JHU_1.69311577 1 69311578 [T/G] rs75454878 1 69329166 [A/G] rs6674177 1 69334834 [A/G] rs142079522 1 69337219 [T/C] JHU_1.69337284 1 69337285 [T/C] rs11209362 1 69347850 [A/C] JHU_1.69348426 1 69348427 [T/A] rs12058557 1 69348788 [T/A] JHU_1.69349743 1 69349744 [A/G] rs9436417 1 69354742 [T/C] JHU_1.69362992 1 69362993 [A/C] JHU_1.69367950 1 69367951 [A/T] rs143143399 1 69370449 [T/C] rs35245151 1 69373165 [A/G] JHU_1.69377505 1 69377506 [A/G] rs4558025 1 69385766 [T/C] rs141434517 1 69388722 [A/G] JHU_1.69396430 1 69396431 [C/G] 1:69396596-G-T 1 69396596 [T/G] JHU_1.69399415 1 69399416 [T/C] rs79026421 1 69400121 [A/G] JHU_1.69401414 1 69401415 [A/G] JHU_1.69402855 1 69402856 [A/G] rs11799791 1 69403628 [T/C] rs146295792 1 69408031 [A/G] rs191263664 1 69411374 [T/C] JHU_1.69412707 1 69412708 [T/C] JHU_1.69415478 1 69415479 [T/C] rs13375505 1 69419136 [T/C] JHU_1.69419671 1 69419672 [C/G] rs6685027 1 69425845 [A/G] rs4650013 1 69438790 [T/C] JHU_1.69439502 1 69439503 [T/C] JHU_1.69440893 1 69440894 [A/G] exm2260614 1 69441920 [A/C] rs11577703 1 69442881 [A/C] JHU_1.69444094 1 69444095 [T/C] JHU_1.69444422 1 69444423 [A/T] rs1507854 1 69445213 [A/C] rs74405633 1 69445857 [A/G] rs79349340 1 69446056 [A/G] rs72682249 1 69448570 [A/G] JHU_1.69448673 1 69448674 [G/C] JHU_1.69448810 1 69448811 [T/C] rs58990201 1 69449163 [A/G] JHU_1.69449162 1 69449163 [A/G] rs7535601 1 69449173 [A/G] rs12562973 1 69449431 [T/C] JHU_1.69458861 1 69458862 [A/G] rs12030960 1 69459883 [T/C] rs115547796 1 69464990 [A/C] rs116190077 1 69475075 [A/G] JHU_1.69476015 1 69476016 [A/C] rs77012708 1 69477029 [A/G] JHU_1.69478240 1 69478241 [T/G] JHU_1.69480910 1 69480911 [T/A] rs7524839 1 69482704 [T/G] JHU_1.69483559 1 69483560 [T/C] rs12033944 1 69483896 [T/C] JHU_1.69491135 1 69491136 [A/G] rs1876466 1 69492279 [A/G] rs35531178 1 69492976 [A/G] rs11799334 1 69494239 [T/C] JHU_1.69499583 1 69499584 [A/G] rs6701090 1 69500815 [A/G] JHU_1.69503181 1 69503182 [A/G] rs140565220 1 69504801 [A/G] JHU_1.69509427 1 69509428 [T/G] JHU_1.69509874 1 69509875 [T/C] rs35513841 1 69509875 [T/C] rs35261935 1 69515509 [A/G] rs6691636 1 69515706 [A/G] rs2842042 1 69518544 [A/G] rs57468268 1 69518658 [T/C] JHU_1.69519038 1 69519039 [A/G] rs1507860 1 69520596 [A/G] 1:69521701-T-C 1 69521701 [T/C] NR_146608 LINC01707 EXON Silent rs115048192 1 69522673 [T/G] NR_146608 LINC01707 Silent rs148570939 1 69524816 [A/G] NR_146608 LINC01707 Silent rs72936365 1 69525605 [T/G] NR_146608 LINC01707 Silent rs147549702 1 69526291 [T/C] NR_146608 LINC01707 Silent rs2661469 1 69528236 [T/C] NR_146608 LINC01707 Silent rs74801470 1 69538081 [T/A] NR_146608 LINC01707 Silent rs76764629 1 69544433 [T/G] NR_146608 LINC01707 Silent rs9730004 1 69545214 [A/T] NR_146608 LINC01707 Silent JHU_1.69547205 1 69547206 [T/C] NR_146608 LINC01707 Silent rs17130848 1 69547367 [T/C] NR_146608 LINC01707 Silent JHU_1.69549351 1 69549352 [A/G] NR_146608 LINC01707 Silent rs11209384 1 69550939 [A/G] NR_146608 LINC01707 EXON Silent rs2842053 1 69551411 [A/C] NR_146608 LINC01707 Silent rs871399 1 69554072 [T/C] NR_146608 LINC01707 Silent rs9783039 1 69554754 [T/C] NR_146608 LINC01707 Silent JHU_1.69556634 1 69556635 [T/C] NR_146608 LINC01707 Silent rs117623282 1 69557643 [A/G] NR_146608 LINC01707 Silent rs1953604 1 69558837 [T/C] NR_146608 LINC01707 Silent rs6671705 1 69569143 [T/C] NR_146608 LINC01707 Silent rs145174965 1 69569543 [T/C] NR_146608 LINC01707 Silent JHU_1.69575423 1 69575424 [T/C] NR_146608 LINC01707 Silent JHU_1.69576030 1 69576031 [A/G] NR_146608 LINC01707 Silent JHU_1.69579250 1 69579251 [T/C] NR_146608 LINC01707 Silent rs2089502 1 69579838 [T/C] NR_146608 LINC01707 Silent JHU_1.69580128 1 69580129 [T/A] NR_146608 LINC01707 Silent rs955093 1 69588193 [T/C] NR_146608 LINC01707 Silent rs72682296 1 69588931 [T/C] NR_146608 LINC01707 Silent rs79692902 1 69595850 [A/G] NR_146608 LINC01707 Silent JHU_1.69595933 1 69595934 [A/C] NR_146608 LINC01707 Silent rs4650112 1 69597419 [T/G] NR_146608 LINC01707 Silent JHU_1.69598972 1 69598973 [T/C] NR_146608 LINC01707 Silent JHU_1.69600880 1 69600881 [A/G] NR_146608 LINC01707 Silent rs76227574 1 69606665 [T/C] NR_146608 LINC01707 Silent rs72938337 1 69610695 [T/C] NR_146608 LINC01707 Silent rs1577611 1 69619701 [T/G] NR_146608 LINC01707 Silent rs2784828 1 69627731 [A/G] NR_146608 LINC01707 Silent rs11810068 1 69632907 [A/C] NR_146608 LINC01707 Silent JHU_1.69634496 1 69634497 [A/G] NR_146608 LINC01707 Silent rs2784830 1 69644108 [T/C] NR_146608 LINC01707 Silent JHU_1.69645601 1 69645602 [A/G] NR_146608 LINC01707 Silent rs148931469 1 69656656 [A/G] rs10493454 1 69659840 [A/G] rs144462605 1 69660208 [T/A] rs1796938 1 69662082 [T/C] rs142184282 1 69662328 [G/C] rs79038928 1 69666497 [A/G] rs149228556 1 69679412 [A/G] rs11209403 1 69680062 [T/C] JHU_1.69680118 1 69680119 [A/G] rs12086324 1 69681190 [T/C] rs11209405 1 69684599 [A/G] exm-rs4650135 1 69684997 [T/C] rs4650137 1 69685100 [T/C] JHU_1.69686664 1 69686665 [T/G] JHU_1.69688072 1 69688073 [A/G] JHU_1.69688081 1 69688082 [T/C] rs2245205 1 69689512 [A/G] rs12044113 1 69689617 [T/C] rs2245421 1 69691339 [A/G] rs74810816 1 69699160 [A/G] rs138269283 1 69700515 [T/A] JHU_1.69707687 1 69707688 [T/G] JHU_1.69710433 1 69710434 [A/G] rs7546233 1 69710434 [A/G] rs2246312 1 69711165 [T/C] rs2420826 1 69713109 [A/G] rs12093443 1 69721901 [A/G] rs114641462 1 69722839 [A/G] JHU_1.69728287 1 69728288 [T/G] JHU_1.69729533 1 69729534 [T/A] rs35345355 1 69735155 [A/G] JHU_1.69735564 1 69735565 [C/G] rs72685909 1 69738686 [T/G] rs80182524 1 69739924 [A/G] JHU_1.69741297 1 69741298 [A/C] rs61783724 1 69741298 [A/C] rs12123555 1 69743750 [T/C] rs1824448 1 69746933 [T/C] JHU_1.69749556 1 69749557 [A/G] rs2815473 1 69752770 [T/C] rs12129407 1 69754083 [T/G] JHU_1.69757520 1 69757521 [A/G] rs142659408 1 69758085 [A/G] JHU_1.69761018 1 69761019 [A/G] JHU_1.69762309 1 69762310 [T/C] JHU_1.69768927 1 69768928 [T/C] rs720233 1 69779437 [T/G] JHU_1.69780167 1 69780168 [T/C] JHU_1.69785842 1 69785843 [T/A] rs10789285 1 69788482 [T/G] rs2815466 1 69789580 [T/C] JHU_1.69791869 1 69791870 [A/G] exm2260615 1 69796389 [T/G] rs117272760 1 69801452 [T/C] JHU_1.69811875 1 69811876 [T/C] rs80202299 1 69813362 [T/A] rs12404688 1 69815440 [A/G] rs79566090 1 69820875 [A/T] rs188516642 1 69826235 [A/C] rs2765864 1 69830063 [A/G] JHU_1.69830821 1 69830822 [G/C] JHU_1.69839671 1 69839672 [A/G] JHU_1.69839763 1 69839764 [A/G] rs137889763 1 69840713 [A/G] JHU_1.69840784 1 69840785 [T/C] JHU_1.69846195 1 69846196 [A/G] JHU_1.69850834 1 69850835 [T/G] rs548825 1 69851618 [T/C] rs71651412 1 69854522 [T/C] rs7513164 1 69865203 [A/G] rs145372291 1 69865831 [A/G] rs10399660 1 69873699 [A/G] exm2252829 1 69874609 [T/C] rs149314870 1 69877406 [A/G] rs1578356 1 69877882 [A/G] rs1926256 1 69879074 [T/C] rs10518315 1 69879802 [T/G] JHU_1.69879890 1 69879891 [A/G] rs868402 1 69885329 [T/G] JHU_1.69886891 1 69886892 [T/C] rs142055258 1 69888201 [A/C] rs181565705 1 69888251 [A/G] rs11209454 1 69889691 [A/G] rs11209455 1 69891657 [A/G] JHU_1.69893406 1 69893407 [T/C] rs11209459 1 69896748 [G/C] rs10736412 1 69899166 [A/T] NR_147164 LINC01758 Silent rs1926264 1 69900116 [T/G] NR_147164 LINC01758 Silent rs56252451 1 69901810 [A/G] rs115980859 1 69902691 [T/C] rs79585229 1 69904171 [A/C] rs9326089 1 69909410 [A/C] rs12042471 1 69909474 [T/C] rs79135715 1 69910124 [A/G] rs17130970 1 69911026 [T/C] JHU_1.69914301 1 69914302 [A/G] JHU_1.69915188 1 69915189 [T/C] JHU_1.69915687 1 69915688 [T/C] rs72668961 1 69918150 [A/G] JHU_1.69918852 1 69918853 [T/C] rs77407594 1 69919097 [A/G] rs1926268 1 69920333 [A/G] rs11209464 1 69920839 [T/C] JHU_1.69925611 1 69925612 [T/A] JHU_1.69927437 1 69927438 [A/C] rs17130976 1 69928349 [A/G] rs114165101 1 69933412 [A/G] rs12119255 1 69933788 [T/G] JHU_1.69934389 1 69934390 [T/G] rs11209468 1 69935119 [T/C] rs1120087 1 69943001 [T/C] rs141433071 1 69943375 [T/C] rs12028493 1 69944198 [T/C] rs34260350 1 69945093 [T/C] rs148186702 1 69949077 [A/G] rs61783863 1 69950389 [T/C] rs954302 1 69951009 [A/G] rs1341771 1 69951220 [A/G] JHU_1.69951220 1 69951221 [A/G] rs72932392 1 69959030 [A/G] rs17395412 1 69959061 [A/G] JHU_1.69963938 1 69963939 [T/G] rs11209479 1 69965403 [T/G] rs76256139 1 69965999 [T/G] rs76254507 1 69966188 [T/C] rs17323540 1 69966850 [A/C] rs1539185 1 69970421 [A/C] JHU_1.69970657 1 69970658 [C/G] rs77765381 1 69972353 [T/C] rs4259589 1 69972693 [A/G] JHU_1.69974310 1 69974311 [A/T] rs78079595 1 69977573 [T/C] JHU_1.69977700 1 69977701 [A/G] rs79129798 1 69978665 [A/G] JHU_1.69985462 1 69985463 [A/G] rs10889835 1 69989262 [C/G] rs116310837 1 69990937 [A/G] JHU_1.69991887 1 69991888 [A/G] rs4589058 1 69993512 [A/G] rs117348495 1 69993944 [T/C] rs76609767 1 69994590 [G/C] JHU_1.69994892 1 69994893 [A/G] rs77996557 1 69996518 [A/G] rs80001952 1 69999073 [A/C] rs12562772 1 70000991 [A/T] rs56373841 1 70001089 [T/C] rs115258240 1 70005824 [A/G] rs1341784 1 70007663 [T/C] rs148329811 1 70008432 [A/G] JHU_1.70009633 1 70009634 [A/T] rs10889836 1 70010325 [T/C] JHU_1.70012722 1 70012723 [T/C] JHU_1.70013115 1 70013116 [A/G] JHU_1.70013953 1 70013954 [T/C] rs117105957 1 70018859 [A/G] JHU_1.70021149 1 70021150 [T/G] rs12407148 1 70021236 [A/C] rs76052508 1 70025525 [T/G] 1:69561628del357 1 70027312 [D/I] rs61782203 1 70028330 [A/G] rs4650295 1 70029922 [T/C] JHU_1.70035243 1 70035244 [A/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70035266 1 70035267 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs147450449 1 70035892 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs34138629 1 70041079 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs56845243 1 70042031 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs12084695 1 70042477 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1245060 1 70047731 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent 1:70052338-C-T 1 70052338 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs139513389 1 70053177 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs75313676 1 70055298 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs61782212 1 70056482 [T/A] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70059036 1 70059037 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs148323534 1 70060667 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs79244502 1 70062727 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs4650296 1 70063259 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs12385700 1 70065151 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70067139 1 70067140 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70067156 1 70067157 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs78742165 1 70070402 [G/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70070401 1 70070402 [G/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs72936535 1 70074025 [T/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1749504 1 70074131 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70074498 1 70074499 [G/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70080806 1 70080807 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs140122972 1 70084145 [A/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs11809230 1 70084797 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70089781 1 70089782 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs61782220 1 70090502 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70097046 1 70097047 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs6662257 1 70097256 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs2066296 1 70097708 [T/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70102126 1 70102127 [G/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70102762 1 70102763 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70103329 1 70103330 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70107523 1 70107524 [A/T] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70108134 1 70108135 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs61782248 1 70114611 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs10889844 1 70115309 [A/T] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs7515624 1 70116541 [T/A] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs7515290 1 70116825 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1024268 1 70117404 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70119801 1 70119802 [A/T] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs227114 1 70124742 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs227115 1 70124891 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs79268447 1 70136869 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70137988 1 70137989 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70141410 1 70141411 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs12118129 1 70143124 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs75491051 1 70145738 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1417437 1 70154441 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs17325299 1 70154480 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs17131017 1 70155099 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70156507 1 70156508 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70157016 1 70157017 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs2050858 1 70158638 [A/T] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs141748210 1 70162462 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1740900 1 70164686 [A/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70174031 1 70174032 [A/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs6695309 1 70174624 [A/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs188208703 1 70175523 [T/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1740909 1 70176245 [T/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs10489556 1 70177006 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs115063185 1 70183979 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs11799793 1 70185045 [A/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs1340773 1 70186036 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70186303 1 70186304 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs12047691 1 70187836 [A/T] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70187835 1 70187836 [A/T] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs77948191 1 70191493 [T/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70198117 1 70198118 [T/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs10889849 1 70204719 [A/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs79475524 1 70205077 [G/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs10889850 1 70207079 [T/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70214763 1 70214764 [A/C] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs115677056 1 70217143 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent JHU_1.70217142 1 70217143 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs72675044 1 70219118 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs11209536 1 70221562 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent rs7523521 1 70225340 [A/G] NM_001330635,NM_001350216 LRRC7,LRRC7 Silent,Silent 1:70225892-CA 1 70225892 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_D32E,Missense_T41N,Missense_T2N rs1340770 1 70225923 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_A43T,Synonymous_V51V,Synonymous_V12V rs17325887 1 70226173 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs72941458 1 70235968 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70236419-G-T 1 70236419 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70237884-A-G 1 70237884 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70240550-T-C 1 70240550 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs12739458 1 70241470 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70243265-G-A 1 70243265 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70243376-C-T 1 70243376 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70243539 1 70243540 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70243606-G-A 1 70243606 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70243629 1 70243630 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70244227-A-G 1 70244227 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70244353 1 70244354 [C/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70244527 1 70244528 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70244863 1 70244864 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70246118 1 70246119 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70246801-G-C 1 70246801 [C/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70246800 1 70246801 [C/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs7520521 1 70248115 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs112340298 1 70248508 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70250650-A-G 1 70250650 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs67155930 1 70251174 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs145026790 1 70251293 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs11209544 1 70257552 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs141470493 1 70257972 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs11577504 1 70262506 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs6681847 1 70263007 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70263380 1 70263381 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70267577-C-T 1 70267577 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70269097-A-G 1 70269097 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70270840-C-A 1 70270840 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70271325-T-G 1 70271325 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70271324 1 70271325 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs12028771 1 70272063 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70275330-C-T 1 70275330 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70278657-A-T 1 70278657 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70278656 1 70278657 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70278763 1 70278764 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs114074887 1 70278924 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70278986 1 70278987 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs1913268 1 70279860 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs61784015 1 70280698 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70281046-T-C 1 70281046 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs76026066 1 70281572 [T/A] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70282183-G-T 1 70282183 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs12026556 1 70282490 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70282875-G-A 1 70282875 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs185657171 1 70283376 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70283618-G-A 1 70283618 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs150321626 1 70284751 [C/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70285732-G-A 1 70285732 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70285816-A-G 1 70285816 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70288452-T-A 1 70288452 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs74784023 1 70288480 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs12075955 1 70288669 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70290095-A-G 1 70290095 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70290119-T-C 1 70290119 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70292109-T-G 1 70292109 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs149869371 1 70292621 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70293356-A-G 1 70293356 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70296648-A-G 1 70296648 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs80284296 1 70297781 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs11209552 1 70297993 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm2264854 1 70297993 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm2252830 1 70300517 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_R178C,Synonymous_D186D,Synonymous_D147D exm67768 1 70300517 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_R178C,Synonymous_D186D,Synonymous_D147D 1:70302201-A-G 1 70302201 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70303097-A-G 1 70303097 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm67771 1 70303924 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_A194A,Missense_R203Q,Missense_R164Q 1:70304758-A-G 1 70304758 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70305182 1 70305183 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70305258 1 70305259 [T/A] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs74759039 1 70305670 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs12063369 1 70306245 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70307421-G-A 1 70307421 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70309488-A-T 1 70309488 [T/A] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70309878-T-C 1 70309878 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs143100131 1 70312726 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs113846452 1 70316901 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70318248-A-G 1 70318248 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70319299-G-A 1 70319299 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70320269-G-A 1 70320269 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70325387-A-G 1 70325387 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70332410-T-TTTG 1 70332410 [D/I] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 1:70333405-T-C 1 70333405 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70333580-G-A 1 70333580 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70333626-A-G 1 70333626 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs147309318 1 70333800 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70333919-T-C 1 70333919 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70334359-T-G 1 70334359 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs12564295 1 70334823 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs10493457 1 70335657 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs2226284 1 70335682 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70335986-G-T 1 70335986 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70336321-T-G 1 70336321 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70336696-T-A 1 70336696 [T/A] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70337845-G-T 1 70337845 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70339191-G-A 1 70339191 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70339714 1 70339715 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs146446104 1 70340502 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70341421-A-G 1 70341421 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70341924-T-C 1 70341924 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70342724-A-G 1 70342724 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs4623650 1 70343674 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70343965 1 70343966 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70343974 1 70343975 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70344920-G-A 1 70344920 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs78359763 1 70345765 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70345794-G-A 1 70345794 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70345861-C-T 1 70345861 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70345868-C-G 1 70345868 [C/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70346162-C-T 1 70346162 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70346958-A-G 1 70346958 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70347242-T-C 1 70347242 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70355581-C-G 1 70355581 [G/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs6702124 1 70355974 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm-rs12037173 1 70355981 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70356975-T-C 1 70356975 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs181421564 1 70357827 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70357865-C-T 1 70357865 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs77638410 1 70357866 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70359163-T-C 1 70359163 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70361267-C-T 1 70361267 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70361434-T-C 1 70361434 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70361589-G-T 1 70361589 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70362492-T-C 1 70362492 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70362684-T-A 1 70362684 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs76167356 1 70363025 [C/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs6663915 1 70363601 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs6424609 1 70363647 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70364260-C-T 1 70364260 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70366838-C-T 1 70366838 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70367723-T-G 1 70367723 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70368315-T-C 1 70368315 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70370351-A-G 1 70370351 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70379200 1 70379201 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70380052-A-C 1 70380052 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70380794-A-G 1 70380794 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70380965-T-A 1 70380965 [T/A] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70381343-G-A 1 70381343 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent kgp5735427 1 70382196 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70382784 1 70382785 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70383080-C-A 1 70383080 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70383294 1 70383295 [C/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70383608-T-C 1 70383608 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70383930-A-G 1 70383930 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70384792-A-T 1 70384792 [T/A] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs184959653 1 70385868 [A/T] NM_001330635,NM_001350216,NM_020794,NR_023916 LRRC7,LRRC7,LRRC7,PIN1P1 EXON Silent,Silent,Silent,Silent kgp8961276 1 70385871 [T/G] NM_001330635,NM_001350216,NM_020794,NR_023916 LRRC7,LRRC7,LRRC7,PIN1P1 EXON Silent,Silent,Silent,Silent 1:70386022-G-A 1 70386022 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70388012-A-ACTCTCTAACCTCATCAG 1 70388012 [I/D] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 1:70388380-C-G 1 70388380 [C/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70395577-C-T 1 70395577 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70395753-TTCTC-T 1 70395753 [D/I] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 1:70396007-C-T 1 70396007 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs189667429 1 70404081 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70404163-G-T 1 70404163 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70404365 1 70404366 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs1023008 1 70404540 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70404729 1 70404730 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70405236-G-A 1 70405236 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70405551-G-A 1 70405551 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70406038 1 70406039 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs118144145 1 70409957 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70410818-C-T 1 70410818 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70414376-C-T 1 70414376 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs1327880 1 70418288 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs149092894 1 70421155 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs78560863 1 70431007 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70444632 1 70444633 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70449132 1 70449133 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs12048343 1 70450024 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70450501 1 70450502 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70453636 1 70453637 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs116979651 1 70454473 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70460304-AG 1 70460304 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_Q323Q,Missense_N332S,Missense_N293S rs35781710 1 70460885 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70466671 1 70466672 [C/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs187711212 1 70468512 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70470058 1 70470059 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70472568-A-T 1 70472568 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70476738 1 70476739 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70479205-G-A 1 70479205 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70486791-CT 1 70486791 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Nonsense_R501X,Synonymous_D509D,Synonymous_D470D exm67792 1 70488932 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_R549H,Missense_V558I,Missense_V519I JHU_1.70491176 1 70491177 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70493890-CA 1 70493890 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_P603H,Missense_P612T,Missense_P573T JHU_1.70494824 1 70494825 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs111722349 1 70496017 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs75828007 1 70496632 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs17507386 1 70500143 [T/A] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70500306 1 70500307 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs17097511 1 70501140 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm67802 1 70501827 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_X666G,Missense_N674K,Missense_N635K 1:70503884-CT 1 70503884 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_S785F,Missense_P794S,Missense_P755S 1:70503980-GA 1 70503980 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_R817Q,Missense_E826K,Missense_E787K exm67817 1 70503989 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_Q820R,Missense_N829D,Missense_N790D exm67850 1 70504688 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_Y1053C,Missense_M1062V,Missense_M1023V exm67852 1 70504781 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_T1084I,Missense_H1093Y,Missense_H1054Y 1:70504797-TC 1 70504797 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_R1089R,Missense_V1098A,Missense_V1059A exm67866 1 70504985 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_R1152H,Missense_A1161T,Missense_A1122T exm67870 1 70505051 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_R1174Q,Missense_G1183S,Missense_G1144S exm67871 1 70505057 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_T1176I,Missense_P1185S,Missense_P1146S exm1874165 1 70505082 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_S1184S,Missense_R1193H,Missense_R1154H JHU_1.70505142 1 70505143 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Missense_X1205R,Synonymous_D1213D,Synonymous_D1174D exm67875 1 70505151 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_P1207P,Missense_P1216L,Missense_P1177L exm67876 1 70505178 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_G1216G,Missense_A1225V,Missense_A1186V rs148273985 1 70506114 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs12041857 1 70507834 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70513945 1 70513946 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70515785 1 70515786 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs148960100 1 70518180 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent chr1_70518746 1 70518746 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_T1328T,Missense_Q1337R,Missense_Q1345R rs79139092 1 70519149 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70523288 1 70523289 [A/T] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70526016 1 70526017 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs17462162 1 70530621 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs191159664 1 70536298 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70540553 1 70540554 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70540691 1 70540692 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs616511 1 70541127 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70541911-GA 1 70541911 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_P1406P,Missense_R1415Q,Missense_R1423Q 1:70541974-CT 1 70541974 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Synonymous_S1427S,Missense_P1436L,Missense_P1444L JHU_1.70543285 1 70543286 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs10493471 1 70543349 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70544476 1 70544477 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70548465 1 70548466 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent JHU_1.70561652 1 70561653 [T/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs826900 1 70565386 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent 1:70574094-T-C 1 70574094 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs17131215 1 70580058 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs74616461 1 70582632 [A/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs77313370 1 70586810 [A/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent rs641909 1 70587360 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 Silent,Silent,Silent exm2273327 1 70587581 [T/C] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Silent,Silent,Silent rs17510099 1 70588452 [C/G] NM_001330635,NM_001350216,NM_020794 LRRC7,LRRC7,LRRC7 EXON Silent,Silent,Silent rs61784317 1 70590987 [A/G] rs78413043 1 70595016 [G/C] rs11209590 1 70595651 [T/G] rs6424382 1 70596535 [T/C] rs6690916 1 70599294 [A/G] JHU_1.70600708 1 70600709 [A/C] rs75583653 1 70601726 [A/C] rs11209591 1 70604967 [G/C] rs676753 1 70611208 [A/T] NM_017768 LRRC40 EXON Silent rs595662 1 70611347 [A/G] NM_017768 LRRC40 EXON Silent exm67909 1 70611496 [A/C] NM_017768 LRRC40 EXON Missense_R599L exm67911 1 70611540 [T/C] NM_017768 LRRC40 EXON Missense_I584M 1:70614206-TG 1 70614206 [T/G] NM_017768 LRRC40 EXON Missense_Q556P variant.4160 1 70616809 [A/C] NM_017768 LRRC40 Silent 1:70616816-TA-T 1 70616816 [I/D] NM_017768 LRRC40 EXON exm67922 1 70616817 [A/G] NM_017768 LRRC40 EXON Missense_F504S exm67923 1 70616830 [T/C] NM_017768 LRRC40 EXON Missense_I500V variant.4162 1 70618227 [T/C] NM_017768 LRRC40 Silent rs587567 1 70620329 [T/G] NM_017768 LRRC40 Silent exm67930 1 70621412 [T/C] NM_017768 LRRC40 EXON Missense_I430V exm67936 1 70625071 [A/G] NM_017768 LRRC40 EXON Missense_P388S rs148674964 1 70629338 [T/C] NM_017768 LRRC40 Silent rs12139863 1 70634585 [C/G] NM_017768 LRRC40 Silent rs79714326 1 70635939 [A/G] NM_017768 LRRC40 Silent exm67940 1 70639162 [T/C] NM_017768 LRRC40 EXON Missense_R366Q exm1874191 1 70639324 [A/G] NM_017768 LRRC40 EXON Missense_I349T exm67946 1 70639372 [T/C] NM_017768 LRRC40 EXON Missense_N333S exm67949 1 70641535 [T/C] NM_017768 LRRC40 EXON Missense_R312Q 1:70641553-TG 1 70641553 [T/G] NM_017768 LRRC40 EXON Missense_D306A indel.4163 1 70641611 [I/D] NM_017768 LRRC40 EXON exm67963 1 70644637 [A/G] NM_017768 LRRC40 EXON Missense_T234I JHU_1.70645911 1 70645912 [T/C] NM_017768 LRRC40 Silent rs6664480 1 70646431 [A/C] NM_017768 LRRC40 Silent exm67967 1 70646822 [T/C] NM_017768 LRRC40 EXON Missense_N203S exm67969 1 70650481 [T/C] NM_017768 LRRC40 EXON Missense_N175S 1:70650509-TC 1 70650509 [T/C] NM_017768 LRRC40 EXON Missense_I166V rs41287896 1 70653068 [A/T] NM_017768 LRRC40 Silent JHU_1.70653890 1 70653891 [T/C] NM_017768 LRRC40 Silent JHU_1.70653939 1 70653940 [G/C] NM_017768 LRRC40 Silent 1:70653941-A-G 1 70653941 [A/G] NM_017768 LRRC40 Silent JHU_1.70654077 1 70654078 [T/C] NM_017768 LRRC40 Silent variant.4164 1 70654775 [A/G] NM_017768 LRRC40 EXON Synonymous_D111D exm67980 1 70654870 [T/C] NM_017768 LRRC40 EXON Missense_E80K exm67982 1 70654895 [T/C] NM_017768 LRRC40 EXON Synonymous_S71S exm67985 1 70654950 [T/G] NM_017768 LRRC40 EXON Missense_Q53P exm67986 1 70654953 [A/G] NM_017768 LRRC40 EXON Missense_P52L JHU_1.70655229 1 70655230 [T/A] NM_017768 LRRC40 Silent JHU_1.70656949 1 70656950 [T/C] NM_017768 LRRC40 Silent rs72678613 1 70660914 [A/G] NM_017768 LRRC40 Silent rs138865144 1 70664987 [T/C] NM_017768 LRRC40 Silent exm67989 1 70671121 [A/C] NM_017768 LRRC40 EXON Missense_A35S exm67993 1 70671201 [A/G] NM_017768 LRRC40 EXON Missense_A8V rs7523474 1 70679353 [A/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent rs60349204 1 70679990 [C/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent rs78506581 1 70684001 [T/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent rs61785276 1 70686668 [T/C] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent variant.4168 1 70687294 [A/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:70687325-CA 1 70687325 [A/C] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 EXON Missense_S2R,Missense_S2R,Missense_S2R,Missense_S2R,Missense_S2R,Missense_S2R,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S2R rs139937251 1 70688136 [T/A] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2274913 1 70689215 [T/C] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.70691991 1 70691992 [A/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.4169 1 70697933 [I/D] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 1:70697939-GA 1 70697939 [A/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:70705120-AG 1 70705120 [A/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72678619 1 70707366 [T/C] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:70712514-GA 1 70712514 [A/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 EXON Missense_E316K,Missense_E316K,Missense_E316K,Missense_E316K,Missense_E316K,Missense_E316K,Missense_E126K,Missense_E126K,Missense_E126K,Missense_E126K,Silent,Missense_E126K,Missense_E126K,Missense_E126K,Missense_E316K exm68039 1 70715711 [T/C] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 EXON Missense_R374C,Missense_R374C,Missense_R367C,Missense_R367C,Missense_R367C,Missense_R367C,Missense_R177C,Missense_R177C,Missense_R177C,Missense_R177C,Silent,Missense_R177C,Missense_R184C,Missense_R184C,Missense_R367C rs10489928 1 70715884 [T/C] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:70716122-AG 1 70716122 [A/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 EXON Missense_K405R,Missense_K405R,Missense_K398R,Missense_K398R,Missense_K398R,Missense_K398R,Missense_K208R,Missense_K208R,Missense_K208R,Missense_K208R,Silent,Missense_K208R,Missense_K215R,Missense_K215R,Missense_K398R exm68050 1 70716373 [C/G] NM_001350609,NM_001350608,NM_001350607,NM_004768,NM_001350606,NM_001190987,NM_001350616,NM_001350612,NM_001350614,NM_001350613,NR_146810,NM_001350615,NM_001350611,NM_001350610,NM_001350605 SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11,SRSF11 EXON Missense_T453R,Missense_T454R,Missense_T446R,Missense_T447R,Missense_T447R,Missense_T446R,Missense_T256R,Missense_T257R,Missense_T256R,Missense_T257R,Silent,Missense_T256R,Missense_T263R,Missense_T264R,Missense_T447R JHU_1.70719808 1 70719809 [G/C] rs269277 1 70725144 [A/C] NM_030816 ANKRD13C EXON Silent 1:70728486-CA 1 70728486 [A/C] NM_030816 ANKRD13C EXON Nonsense_E514X JHU_1.70728556 1 70728557 [T/C] NM_030816 ANKRD13C Silent rs269276 1 70731885 [T/G] NM_030816 ANKRD13C Silent rs72929237 1 70734728 [A/C] NM_030816 ANKRD13C Silent rs269271 1 70737858 [T/C] NM_030816 ANKRD13C Silent JHU_1.70740179 1 70740180 [A/G] NM_030816 ANKRD13C Silent exm68061 1 70742505 [A/G] NM_030816 ANKRD13C EXON Missense_T413I rs12565719 1 70744507 [A/C] NM_030816 ANKRD13C Silent JHU_1.70748649 1 70748650 [A/G] NM_030816 ANKRD13C Silent exm2265017 1 70750558 [A/G] NM_030816 ANKRD13C Silent JHU_1.70750677 1 70750678 [T/C] NM_030816 ANKRD13C Silent rs78435355 1 70753865 [A/G] NM_030816 ANKRD13C Silent rs79171683 1 70754717 [T/C] NM_030816 ANKRD13C Silent rs56260624 1 70755818 [D/I] NM_030816 ANKRD13C rs1551389 1 70756561 [T/A] NM_030816 ANKRD13C Silent 1:70758232-CA 1 70758232 [A/C] NM_030816 ANKRD13C EXON Nonsense_E352X JHU_1.70759340 1 70759341 [A/C] NM_030816 ANKRD13C Silent newrs150473953 1 70761813 [T/C] NM_030816 ANKRD13C EXON Synonymous_T351T rs6686181 1 70762970 [A/G] NM_030816 ANKRD13C Silent rs12135469 1 70765659 [A/G] NM_030816 ANKRD13C Silent rs189952797 1 70766335 [A/G] NM_030816 ANKRD13C Silent rs11584640 1 70768455 [A/G] NM_030816 ANKRD13C Silent rs76765633 1 70768781 [T/C] NM_030816 ANKRD13C Silent rs146276253 1 70770669 [T/C] NM_030816 ANKRD13C Silent 1:70771940-GT 1 70771940 [T/G] NM_030816 ANKRD13C EXON Missense_A248E rs188309182 1 70777996 [T/C] NM_030816 ANKRD13C Silent JHU_1.70787995 1 70787996 [T/G] NM_030816 ANKRD13C Silent rs114187052 1 70789943 [A/T] NM_030816 ANKRD13C Silent JHU_1.70789942 1 70789943 [A/T] NM_030816 ANKRD13C Silent JHU_1.70793212 1 70793213 [G/C] NM_030816 ANKRD13C Silent JHU_1.70794546 1 70794547 [A/T] NM_030816 ANKRD13C Silent JHU_1.70797527 1 70797528 [G/C] NM_030816 ANKRD13C Silent rs142294845 1 70799331 [A/C] NM_030816 ANKRD13C Silent rs144518967 1 70802603 [T/C] NM_030816 ANKRD13C Silent rs149252357 1 70806271 [T/G] NM_030816 ANKRD13C Silent JHU_1.70807045 1 70807046 [T/G] NM_030816 ANKRD13C Silent rs6424385 1 70808932 [T/C] NM_030816 ANKRD13C Silent rs146029983 1 70813492 [A/G] NM_030816 ANKRD13C Silent rs10889868 1 70816563 [A/G] NM_030816 ANKRD13C Silent exm68088 1 70819679 [A/C] NM_030816 ANKRD13C EXON Missense_G138V 1:70819734-CT 1 70819734 [T/C] NM_030816 ANKRD13C EXON Missense_V120I 1:70819788-CT 1 70819788 [T/C] NM_030816 ANKRD13C EXON Missense_A102T exm68096 1 70819802 [T/C] NM_030816 ANKRD13C EXON Missense_G97D 1:70820060-CT 1 70820060 [T/C] NM_030816 ANKRD13C EXON Missense_R11K indel.4171 1 70820700 [D/I] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON variant.4172 1 70820790 [T/C] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Synonymous_A52A,Silent,Synonymous_A52A,Synonymous_A52A variant.4173 1 70820791 [A/G] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_V53I,Silent,Missense_V53I,Silent exm68116 1 70820794 [T/C] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_C54R,Silent,Missense_C54R,Silent variant.4174 1 70820799 [T/G] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Synonymous_T55T,Silent,Silent,Silent Variant12417 1 70832008 [I/D] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 rs6661178 1 70832053 [A/G] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 Silent,Silent,Silent,Silent exm68121 1 70832137 [T/C] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_R90W,Silent,Synonymous_N57N,Missense_T56M exm68122 1 70832144 [C/G] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_G92A,Silent,Missense_G60R,Missense_R58S 1:70833326-GT 1 70833326 [T/G] NM_001036645,NR_027404,NM_001031693,NM_001036646 HHLA3,HHLA3,HHLA3,HHLA3 EXON Silent,Silent,Missense_S94I,Silent JHU_1.70847309 1 70847310 [A/G] JHU_1.70851732 1 70851733 [A/G] rs7523188 1 70858435 [A/G] JHU_1.70861368 1 70861369 [T/C] rs58125419 1 70867557 [T/G] rs664051 1 70869116 [A/G] rs648743 1 70875779 [T/C] rs77287623 1 70876330 [A/G] exm68129 1 70877113 [A/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_D5E,Missense_D5E,Missense_D5E rs12030275 1 70877743 [T/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent rs114616815 1 70879243 [T/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent rs681475 1 70880717 [T/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent rs35864483 1 70881230 [A/T] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent rs28941785 1 70881670 [T/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_T67I,Missense_T67I,Missense_T67I exm68136 1 70881670 [T/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_T67I,Missense_T67I,Missense_T67I chr1_70881699 1 70881699 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_A77T,Missense_A77T,Missense_A77T rs1145920 1 70883840 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent rs672203 1 70887099 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent rs6413471 1 70887183 [A/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent 1:70887312-GT 1 70887312 [T/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_C137F,Missense_C105F,Missense_C137F JHU_1.70888100 1 70888101 [T/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent rs77475422 1 70888132 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent 1:70889980-GA 1 70889980 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_E157K,Missense_E125K,Silent exm68141 1 70890007 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_V166M,Missense_V134M,Silent rs149505686 1 70890007 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_V166M,Missense_V134M,Silent exm68142 1 70890023 [C/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_G171A,Missense_G139A,Silent 1:70890067-GA 1 70890067 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_V186M,Missense_V154M,Silent rs142475948 1 70895478 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_R197H,Missense_R165H,Missense_R153H exm68147 1 70895478 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_R197H,Missense_R165H,Missense_R153H exm68152 1 70896038 [T/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_C229R,Missense_C197R,Missense_C185R 1:70896071-C-G 1 70896071 [G/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_Q240E,Missense_Q208E,Missense_Q196E rs17131305 1 70896165 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent rs663649 1 70897183 [T/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent Variant15918 1 70897823 [D/I] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON exm1874282 1 70899534 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_E301K,Missense_E269K,Missense_E257K variant.4180 1 70899637 [A/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH Silent,Silent,Silent indel.4182 1 70904382 [D/I] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON exm1874287 1 70904474 [A/C] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_L386I,Missense_L354I,Missense_L342I exm68172 1 70904800 [T/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_S403I,Missense_S371I,Missense_S359I rs1021737 1 70904800 [T/G] NM_001902,NM_001190463,NM_153742 CTH,CTH,CTH EXON Missense_S403I,Missense_S371I,Missense_S359I rs79981670 1 70905664 [T/C] rs6693082 1 70905674 [T/G] rs115078424 1 70908356 [T/C] rs146475416 1 70911992 [A/G] rs60866999 1 70912434 [A/G] rs11590089 1 70914923 [G/C] 1:70917233-G-A 1 70917233 [A/G] rs12562375 1 70920737 [T/C] rs2182829 1 70920889 [A/G] exm-rs10458561 1 70921173 [A/G] JHU_1.70921619 1 70921620 [T/A] rs17131313 1 70921852 [A/G] JHU_1.70925349 1 70925350 [G/C] exm2252833 1 70930788 [A/G] rs6424388 1 70930788 [A/G] rs6424389 1 70931286 [T/C] rs12125863 1 70932505 [T/C] rs8179319 1 70934259 [A/G] rs11209626 1 70942269 [T/C] rs188534083 1 70943460 [A/G] rs527148 1 70948010 [A/G] rs10493474 1 70948788 [A/G] rs74085270 1 70950225 [A/G] rs2807912 1 70952314 [A/G] JHU_1.70952753 1 70952754 [T/C] rs2807911 1 70954299 [A/G] JHU_1.70961971 1 70961972 [A/G] rs1333680 1 70963368 [T/C] rs183325073 1 70969638 [A/C] JHU_1.70972593 1 70972594 [A/C] rs682717 1 70974117 [A/G] JHU_1.70978690 1 70978691 [A/G] JHU_1.70982546 1 70982547 [T/A] rs625578 1 70983975 [A/G] rs10889879 1 70986547 [A/G] rs17131326 1 70987292 [T/C] JHU_1.70988190 1 70988191 [T/A] JHU_1.70988734 1 70988735 [T/G] JHU_1.70988800 1 70988801 [T/C] JHU_1.70988827 1 70988828 [T/C] JHU_1.70989156 1 70989157 [A/G] rs532013 1 70989921 [T/C] rs146050467 1 70990014 [T/C] JHU_1.70990434 1 70990435 [A/C] JHU_1.70992307 1 70992308 [T/A] rs2651241 1 70992951 [T/C] JHU_1.70993227 1 70993228 [T/C] rs2202044 1 70993695 [T/C] rs141953280 1 70994519 [T/C] rs2651244 1 70995562 [A/G] rs505292 1 70997152 [T/C] JHU_1.70997638 1 70997639 [A/G] rs147311064 1 70998882 [T/C] rs75298833 1 70999634 [T/A] rs140759214 1 71000690 [T/C] rs2651236 1 71001920 [T/G] JHU_1.71007643 1 71007644 [T/C] rs9424945 1 71007926 [A/G] rs582435 1 71010207 [T/C] rs4515743 1 71014024 [T/G] rs137967040 1 71016093 [A/G] JHU_1.71018265 1 71018266 [T/A] rs4233083 1 71018986 [T/C] rs12410281 1 71019658 [T/C] JHU_1.71020371 1 71020372 [T/C] rs7523040 1 71022347 [C/G] rs4146541 1 71022862 [T/C] rs10889881 1 71023684 [T/C] rs3121983 1 71028815 [A/G] JHU_1.71034163 1 71034164 [G/C] JHU_1.71040391 1 71040392 [A/C] JHU_1.71040573 1 71040574 [T/G] rs11209642 1 71044478 [A/G] rs11209643 1 71044680 [T/C] rs7522196 1 71045066 [A/G] JHU_1.71046083 1 71046084 [T/G] rs144008560 1 71046405 [T/C] rs74086598 1 71046535 [T/C] rs11209645 1 71046778 [T/C] rs12135820 1 71047239 [A/G] rs17131353 1 71050800 [A/G] rs2992052 1 71051053 [A/G] JHU_1.71051656 1 71051657 [T/C] JHU_1.71052037 1 71052038 [A/C] rs17131358 1 71060083 [A/G] rs6689757 1 71067296 [A/G] rs78508097 1 71072727 [T/C] rs1932064 1 71073921 [A/G] JHU_1.71081473 1 71081474 [T/G] rs1007630 1 71085728 [T/C] 1:71087768-G-A 1 71087768 [A/G] JHU_1.71087873 1 71087874 [A/C] rs34966194 1 71093577 [T/C] rs8179355 1 71093805 [A/C] JHU_1.71094695 1 71094696 [A/G] JHU_1.71095736 1 71095737 [T/C] rs114253993 1 71095981 [T/G] rs4650076 1 71096890 [T/C] JHU_1.71097035 1 71097036 [A/G] JHU_1.71097892 1 71097893 [T/G] rs76272918 1 71097912 [T/C] rs2421794 1 71098437 [T/C] rs2152119 1 71100213 [A/G] rs1932048 1 71100726 [A/G] JHU_1.71101131 1 71101132 [T/C] rs6686879 1 71103392 [T/C] rs113440723 1 71106144 [T/C] JHU_1.71107296 1 71107297 [T/C] JHU_1.71111770 1 71111771 [A/G] JHU_1.71115129 1 71115130 [A/G] rs116249519 1 71117923 [A/T] rs10889884 1 71120020 [T/C] rs17131380 1 71120039 [T/C] rs72684722 1 71125630 [A/C] rs13375164 1 71127022 [C/G] rs55806210 1 71127369 [T/G] rs72926249 1 71128393 [T/C] 1:71128811-G-T 1 71128811 [T/G] rs11209672 1 71129192 [T/C] rs74948667 1 71141273 [T/C] rs2782763 1 71142202 [T/C] rs11209673 1 71144279 [A/G] rs144153364 1 71149790 [A/G] rs2820526 1 71153714 [A/C] rs2152134 1 71154417 [A/G] rs12731606 1 71157661 [A/G] rs11806945 1 71158673 [A/C] JHU_1.71159480 1 71159481 [T/C] rs184413921 1 71161306 [T/G] rs2820511 1 71166376 [A/G] rs2820514 1 71168497 [T/C] JHU_1.71171780 1 71171781 [T/C] rs17131422 1 71173498 [T/G] NR_125938 LINC01788 EXON Silent rs2782792 1 71180389 [T/G] NR_125938 LINC01788 Silent rs145430763 1 71180457 [A/G] NR_125938 LINC01788 Silent 1:71181400-T-A 1 71181400 [A/T] NR_125938 LINC01788 Silent rs181083961 1 71184827 [A/G] NR_125938 LINC01788 Silent JHU_1.71186206 1 71186207 [T/C] NR_125938 LINC01788 Silent rs76987291 1 71187395 [T/C] NR_125938 LINC01788 Silent JHU_1.71187863 1 71187864 [T/A] NR_125938 LINC01788 Silent rs12080162 1 71194759 [A/C] NR_125938 LINC01788 Silent rs2421787 1 71195538 [A/G] NR_125938 LINC01788 Silent rs1932063 1 71197126 [A/G] NR_125938 LINC01788 Silent rs7523542 1 71198580 [A/C] NR_125938 LINC01788 Silent JHU_1.71200388 1 71200389 [T/C] NR_125938 LINC01788 Silent rs12563671 1 71210705 [T/G] NR_125938 LINC01788 Silent rs1591385 1 71215084 [A/G] NR_125938 LINC01788 Silent rs12127573 1 71219037 [A/G] NR_125938 LINC01788 Silent rs148270627 1 71219703 [T/C] NR_125938 LINC01788 Silent rs60469012 1 71219777 [T/C] NR_125938 LINC01788 Silent rs12033260 1 71220683 [T/G] NR_125938 LINC01788 Silent JHU_1.71223041 1 71223042 [A/C] NR_125938 LINC01788 Silent rs117371953 1 71223528 [T/C] NR_125938 LINC01788 Silent 1:71225382-T-C 1 71225382 [T/C] NR_125938 LINC01788 Silent rs11209689 1 71229637 [T/G] NR_125938 LINC01788 Silent rs998550 1 71230547 [A/G] NR_125938 LINC01788 Silent JHU_1.71235365 1 71235366 [A/G] NR_125938 LINC01788 Silent rs75634098 1 71240015 [T/C] NR_125938 LINC01788 Silent JHU_1.71240326 1 71240327 [A/C] NR_125938 LINC01788 Silent JHU_1.71248703 1 71248704 [T/C] NR_125938 LINC01788 Silent rs59316229 1 71249506 [T/G] NR_125938 LINC01788 Silent rs10889889 1 71250352 [A/C] NR_125938 LINC01788 Silent rs10493480 1 71255728 [T/C] rs1536534 1 71256068 [T/C] JHU_1.71257054 1 71257055 [T/G] rs115230774 1 71274996 [T/C] rs2257772 1 71275174 [A/G] JHU_1.71277121 1 71277122 [T/G] rs77797946 1 71277773 [A/G] JHU_1.71283960 1 71283961 [T/A] rs74086786 1 71286392 [T/C] rs11209700 1 71288661 [T/C] rs74089538 1 71290776 [C/G] rs7534636 1 71301892 [T/C] rs11810467 1 71305078 [T/C] rs117790613 1 71311653 [T/C] rs142267970 1 71316271 [A/G] 1:71318261-T-C 1 71318261 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent rs959 1 71318261 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent indel.4183 1 71318528 [D/I] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON 1:71318543-CG 1 71318543 [G/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs4650092 1 71324006 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs1327460 1 71325044 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs139192541 1 71325071 [T/A] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71327033 1 71327034 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs7530738 1 71327463 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs12119442 1 71331220 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs34124670 1 71331812 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs1536537 1 71334870 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs1327449 1 71337925 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs34247575 1 71338429 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent 1:71339973-C-A 1 71339973 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs7543182 1 71339973 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs149854078 1 71346869 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs17131476 1 71347417 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs4649932 1 71348176 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71350049 1 71350050 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs11209707 1 71351785 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent Variant38008 1 71351978 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs112660084 1 71355769 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs4147114 1 71356665 [C/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs17131479 1 71357687 [C/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs4998697 1 71358190 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs72932180 1 71358721 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs112308166 1 71362821 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs36021131 1 71362829 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent exm2252854 1 71365018 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71366498 1 71366499 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs10889896 1 71368281 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71368585 1 71368586 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71371696 1 71371697 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs114262907 1 71372061 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs875727 1 71373738 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs17541722 1 71373921 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71374353 1 71374354 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs61777101 1 71374697 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs17482751 1 71375772 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs11209716 1 71377650 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent 1:71377650-T-C 1 71377650 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs76048468 1 71380674 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs6424411 1 71384940 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71387285 1 71387286 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs139127599 1 71390203 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs602383 1 71391646 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs190638096 1 71393873 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs645618 1 71394458 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71401354 1 71401355 [T/A] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71411134 1 71411135 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71412125 1 71412126 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs622721 1 71413324 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs1409984 1 71413440 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs147739650 1 71415428 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent indel.4185 1 71418632 [D/I] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON 1:71418643-GA 1 71418643 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_L402F,Silent 1:71418662-TG-T 1 71418662 [D/I] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON exm68191 1 71418672 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R392H,Silent exm68197 1 71418711 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_Q379R,Silent exm68200 1 71418742 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L369L,Silent 1:71419343-A-C 1 71419343 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs661000 1 71421564 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs977214 1 71426260 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs143777497 1 71429226 [G/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs189894137 1 71438436 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17090700 1 71439528 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm68214 1 71440052 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Missense_N366S,Silent,Silent,Missense_N366S,Missense_N366S rs2072947 1 71440217 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs909848 1 71443150 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs726764 1 71443399 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs138877437 1 71443514 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs879424 1 71443992 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71446625 1 71446626 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71447571 1 71447572 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2206343 1 71449130 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs141235688 1 71449670 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2300164 1 71454352 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72671020 1 71454869 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71459050 1 71459051 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75281826 1 71464464 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:71464494-A-G 1 71464494 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116878474 1 71465172 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74715496 1 71468875 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71472910 1 71472911 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12127314 1 71472911 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs187360810 1 71473664 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71473993 1 71473994 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs5682 1 71476872 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs5675 1 71477539 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:71477987-CA 1 71477987 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V360L 1:71478079-TAAG-T 1 71478079 [D/I] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON exm2233789 1 71478109 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Missense_T319M,Missense_T319M,Silent,Missense_T319M,Silent,Missense_T319M,Missense_T319M,Missense_T319M,Missense_T319M rs2206344 1 71480649 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71486381 1 71486382 [T/A] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs66944390 1 71486809 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75404986 1 71490141 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs5024204 1 71491890 [T/A] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs8179390 1 71494365 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34512995 1 71494699 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:71498625-T-C 1 71498625 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2300179 1 71499286 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71500739 1 71500740 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77840794 1 71500740 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs141908497 1 71501856 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71502681 1 71502682 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2817864 1 71503105 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12726996 1 71503830 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75625742 1 71507448 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71509052 1 71509053 [A/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2982411 1 71510671 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.71511989 1 71511990 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2817867 1 71512160 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs192385435 1 71512178 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:71512639-AC 1 71512639 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_C208G,Missense_C208G,Silent,Missense_C208G,Silent,Missense_C208G,Missense_C208G,Missense_C208G,Missense_C208G,Silent 1:71512822-TG 1 71512822 [T/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_I147L,Missense_I147L,Silent,Missense_I147L,Silent,Missense_I147L,Missense_I147L,Missense_I147L,Missense_I147L,Silent 1:71512927-CA 1 71512927 [A/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_V112F,Missense_V112F,Silent,Missense_V112F,Silent,Missense_V112F,Missense_V112F,Missense_V112F,Missense_V112F,Silent exm68246 1 71513137 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_G42R,Missense_G42R,Silent,Missense_G42R,Silent,Missense_G42R,Missense_G42R,Missense_G42R,Missense_G42R,Silent exm68248 1 71513160 [C/G] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_R34P,Missense_R34P,Silent,Missense_R34P,Silent,Missense_R34P,Missense_R34P,Missense_R34P,Missense_R34P,Silent 1:71513214-CT 1 71513214 [T/C] NR_028293,NM_198716,NM_198717,NR_028292,NM_198714,NR_028294,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_R16H,Missense_R16H,Silent,Missense_R16H,Silent,Missense_R16H,Missense_R16H,Missense_R16H,Missense_R16H,Silent rs7551789 1 71514969 [T/A] NR_038420 ZRANB2-AS1 Silent 1:71514969-A-T 1 71514969 [T/A] NR_038420 ZRANB2-AS1 Silent rs7529930 1 71519070 [A/G] NR_038420 ZRANB2-AS1 Silent rs4650099 1 71524310 [A/G] NR_038420 ZRANB2-AS1 Silent JHU_1.71528216 1 71528217 [T/A] NR_038420 ZRANB2-AS1 Silent JHU_1.71528264 1 71528265 [A/T] NR_038420 ZRANB2-AS1 Silent exm68256 1 71530780 [A/G] NR_038420,NM_005455,NM_203350 ZRANB2-AS1,ZRANB2,ZRANB2 EXON Silent,Silent,Missense_R324C exm68273 1 71534974 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 EXON Missense_R252H,Missense_R252H exm68276 1 71534986 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 EXON Missense_R248H,Missense_R248H exm1875922 1 71536564 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 EXON Missense_H210R,Missense_H210R JHU_1.71536573 1 71536574 [G/C] NM_005455,NM_203350 ZRANB2,ZRANB2 EXON Missense_R207G,Missense_R207G JHU_1.71540348 1 71540349 [A/T] NM_005455,NM_203350 ZRANB2,ZRANB2 Silent,Silent rs9425055 1 71541003 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 Silent,Silent var_1_71544139 1 71544139 [A/C] NM_005455,NM_203350 ZRANB2,ZRANB2 Silent,Silent rs74949201 1 71544987 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 Silent,Silent rs12035210 1 71545970 [A/G] NM_005455,NM_203350 ZRANB2,ZRANB2 Silent,Silent rs72671091 1 71548592 [A/G] NR_046217 ZRANB2-AS2 Silent JHU_1.71548703 1 71548704 [A/G] NR_046217 ZRANB2-AS2 Silent rs75579452 1 71549491 [A/T] NR_046217 ZRANB2-AS2 Silent rs12040916 1 71550203 [A/G] NR_046217 ZRANB2-AS2 Silent rs7531139 1 71556167 [A/G] NR_046217 ZRANB2-AS2 Silent rs12409826 1 71560350 [A/G] NR_046217 ZRANB2-AS2 Silent rs4272572 1 71561084 [A/G] NR_046217 ZRANB2-AS2 Silent rs138518682 1 71563189 [A/G] NR_046217 ZRANB2-AS2 Silent rs4347158 1 71564064 [A/G] NR_046217 ZRANB2-AS2 Silent rs17556501 1 71570876 [A/G] NR_046217 ZRANB2-AS2 Silent JHU_1.71574122 1 71574123 [A/G] NR_046217 ZRANB2-AS2 Silent rs114923345 1 71584318 [A/G] NR_046217 ZRANB2-AS2 Silent rs78508927 1 71590235 [C/G] NR_046217 ZRANB2-AS2 Silent JHU_1.71621894 1 71621895 [T/A] NR_046217 ZRANB2-AS2 Silent rs79340524 1 71627232 [A/G] NR_046217 ZRANB2-AS2 Silent rs1418449 1 71632687 [T/G] NR_046217 ZRANB2-AS2 Silent rs10493482 1 71633795 [T/C] NR_046217 ZRANB2-AS2 Silent rs3934401 1 71640908 [A/G] NR_046217 ZRANB2-AS2 Silent rs17557128 1 71643690 [A/G] NR_046217 ZRANB2-AS2 Silent JHU_1.71643972 1 71643973 [A/G] NR_046217 ZRANB2-AS2 Silent rs76538656 1 71649637 [A/T] NR_046217 ZRANB2-AS2 Silent rs74315748 1 71661514 [C/G] NR_046217 ZRANB2-AS2 Silent JHU_1.71664040 1 71664041 [T/C] NR_046217 ZRANB2-AS2 Silent rs72927575 1 71675071 [A/G] NR_046217 ZRANB2-AS2 Silent JHU_1.71691860 1 71691861 [T/C] NR_046217 ZRANB2-AS2 Silent 1:71692554-G-A 1 71692554 [A/G] NR_046217 ZRANB2-AS2 Silent rs2796188 1 71694861 [A/G] NR_046217 ZRANB2-AS2 Silent rs1891417 1 71695806 [A/G] NR_046217 ZRANB2-AS2 Silent JHU_1.71696862 1 71696863 [G/C] NR_046217 ZRANB2-AS2 Silent rs10493483 1 71696940 [A/G] NR_046217 ZRANB2-AS2 Silent JHU_1.71700121 1 71700122 [T/C] NR_046217 ZRANB2-AS2 Silent JHU_1.71704032 1 71704033 [A/G] rs182754137 1 71708771 [A/G] JHU_1.71709387 1 71709388 [A/G] rs116589207 1 71709411 [A/C] rs77250068 1 71712445 [A/G] JHU_1.71717910 1 71717911 [T/C] JHU_1.71722493 1 71722494 [A/G] JHU_1.71727907 1 71727908 [A/T] rs11209757 1 71728900 [T/G] rs2790679 1 71729599 [A/G] JHU_1.71731890 1 71731891 [T/C] JHU_1.71732883 1 71732884 [A/C] rs17091046 1 71732972 [A/G] rs189492722 1 71733242 [T/C] rs6673749 1 71734612 [T/C] rs962231 1 71740028 [A/G] rs191235958 1 71741316 [A/G] rs2421878 1 71744038 [A/T] rs12126880 1 71748222 [A/G] rs75136284 1 71749540 [A/G] rs12749022 1 71750361 [A/G] JHU_1.71751306 1 71751307 [T/C] rs76823109 1 71752131 [T/C] rs72674919 1 71752263 [A/G] rs6695355 1 71762203 [A/G] exm-rs6695355 1 71762203 [A/G] JHU_1.71765578 1 71765579 [T/A] rs17091088 1 71770366 [T/C] rs190534116 1 71771267 [C/G] rs17091107 1 71777548 [T/G] JHU_1.71780688 1 71780689 [A/G] rs1506452 1 71781585 [A/G] rs2174602 1 71799403 [A/G] JHU_1.71806740 1 71806741 [T/C] 1:71808487-T-C 1 71808487 [T/C] JHU_1.71811510 1 71811511 [T/G] JHU_1.71815743 1 71815744 [T/C] rs11209773 1 71823940 [A/G] 1:71824071-G-T 1 71824071 [T/G] rs12411099 1 71824836 [A/G] JHU_1.71828976 1 71828977 [A/G] JHU_1.71831881 1 71831882 [A/G] JHU_1.71834805 1 71834806 [A/G] rs356394 1 71835428 [T/G] rs17091148 1 71840078 [A/G] rs1517754 1 71840498 [T/C] rs728296 1 71843560 [T/C] rs147118102 1 71848953 [T/C] exm2263860 1 71849037 [A/C] rs12127469 1 71849037 [A/C] rs61777352 1 71849119 [G/C] rs140679743 1 71854294 [A/G] rs4650108 1 71868058 [A/G] 1:71873128-T-C 1 71873128 [T/C] NM_173808 NEGR1 EXON Silent exm68307 1 71873154 [T/G] NM_173808 NEGR1 EXON Missense_Y347S 1:71873199-CA 1 71873199 [A/C] NM_173808 NEGR1 EXON Missense_C332F 1:71873218-C-T 1 71873218 [T/C] NM_173808 NEGR1 EXON Missense_A326T 1:71873219-G-A 1 71873219 [A/G] NM_173808 NEGR1 EXON Synonymous_S325S 1:71873220-CT 1 71873220 [T/C] NM_173808 NEGR1 EXON Missense_S325N 1:71873225-G-A 1 71873225 [A/G] NM_173808 NEGR1 EXON Synonymous_T323T rs17091169 1 71874857 [A/G] NM_173808 NEGR1 Silent rs57076107 1 71876112 [A/T] NM_173808 NEGR1 Silent rs74089308 1 71882314 [A/T] NM_173808 NEGR1 Silent JHU_1.71884276 1 71884277 [T/C] NM_173808 NEGR1 Silent JHU_1.71884278 1 71884279 [T/C] NM_173808 NEGR1 Silent JHU_1.71885317 1 71885318 [T/C] NM_173808 NEGR1 Silent rs11209782 1 71891364 [A/G] NM_173808 NEGR1 Silent JHU_1.71894597 1 71894598 [G/C] NM_173808 NEGR1 Silent rs139774654 1 71899057 [T/C] NM_173808 NEGR1 Silent rs146729687 1 71900820 [T/C] NM_173808 NEGR1 Silent rs7519228 1 71902018 [T/C] NM_173808 NEGR1 Silent rs7516999 1 71902270 [A/G] NM_173808 NEGR1 Silent rs78668372 1 71903238 [A/C] NM_173808 NEGR1 Silent JHU_1.71909920 1 71909921 [A/T] NM_173808 NEGR1 Silent rs141441673 1 71915374 [A/C] NM_173808 NEGR1 Silent JHU_1.71916617 1 71916618 [A/T] NM_173808 NEGR1 Silent JHU_1.71917831 1 71917832 [T/C] NM_173808 NEGR1 Silent rs7550923 1 71920314 [A/G] NM_173808 NEGR1 Silent JHU_1.71921938 1 71921939 [A/T] NM_173808 NEGR1 Silent rs143692943 1 71922691 [T/C] NM_173808 NEGR1 Silent rs150088536 1 71924852 [C/G] NM_173808 NEGR1 Silent rs77292808 1 71925567 [T/C] NM_173808 NEGR1 Silent rs1155175 1 71925926 [T/C] NM_173808 NEGR1 Silent JHU_1.71927192 1 71927193 [T/C] NM_173808 NEGR1 Silent rs977145 1 71929289 [T/C] NM_173808 NEGR1 Silent rs12725811 1 71930981 [C/G] NM_173808 NEGR1 Silent 1:71931770-G-A 1 71931770 [A/G] NM_173808 NEGR1 Silent rs12125823 1 71932544 [A/G] NM_173808 NEGR1 Silent rs116594065 1 71936130 [A/G] NM_173808 NEGR1 Silent JHU_1.71938919 1 71938920 [T/C] NM_173808 NEGR1 Silent JHU_1.71940421 1 71940422 [A/C] NM_173808 NEGR1 Silent rs975842 1 71947986 [G/C] NM_173808 NEGR1 Silent rs150314186 1 71948011 [T/A] NM_173808 NEGR1 Silent rs870460 1 71948851 [A/G] NM_173808 NEGR1 Silent JHU_1.71952855 1 71952856 [A/G] NM_173808 NEGR1 Silent JHU_1.71958180 1 71958181 [T/C] NM_173808 NEGR1 Silent JHU_1.71958891 1 71958892 [G/C] NM_173808 NEGR1 Silent rs357221 1 71960291 [A/G] NM_173808 NEGR1 Silent rs12087464 1 71961608 [T/G] NM_173808 NEGR1 Silent JHU_1.71962285 1 71962286 [A/T] NM_173808 NEGR1 Silent rs75737487 1 71962365 [A/G] NM_173808 NEGR1 Silent JHU_1.71962371 1 71962372 [T/C] NM_173808 NEGR1 Silent JHU_1.71965720 1 71965721 [T/A] NM_173808 NEGR1 Silent 1:71968583-G-C 1 71968583 [C/G] NM_173808 NEGR1 Silent rs75807569 1 71970487 [C/G] NM_173808 NEGR1 Silent 1:71972509-C-A 1 71972509 [A/C] NM_173808 NEGR1 Silent JHU_1.71973465 1 71973466 [T/C] NM_173808 NEGR1 Silent rs77576144 1 71974032 [T/C] NM_173808 NEGR1 Silent rs74088141 1 71975760 [T/C] NM_173808 NEGR1 Silent JHU_1.71977783 1 71977784 [T/C] NM_173808 NEGR1 Silent JHU_1.71985438 1 71985439 [A/C] NM_173808 NEGR1 Silent rs116339129 1 71990227 [A/G] NM_173808 NEGR1 Silent rs17503430 1 71993292 [T/C] NM_173808 NEGR1 Silent rs357237 1 71996090 [A/C] NM_173808 NEGR1 Silent rs17569091 1 71999478 [G/C] NM_173808 NEGR1 Silent JHU_1.72000645 1 72000646 [A/G] NM_173808 NEGR1 Silent rs17569138 1 72001646 [A/G] NM_173808 NEGR1 Silent JHU_1.72002777 1 72002778 [T/C] NM_173808 NEGR1 Silent rs61764984 1 72009280 [A/G] NM_173808 NEGR1 Silent rs357233 1 72012933 [A/G] NM_173808 NEGR1 Silent rs12727814 1 72014193 [A/G] NM_173808 NEGR1 Silent rs78685082 1 72016244 [A/G] NM_173808 NEGR1 Silent JHU_1.72018432 1 72018433 [C/G] NM_173808 NEGR1 Silent JHU_1.72022336 1 72022337 [T/C] NM_173808 NEGR1 Silent rs115229547 1 72025075 [T/C] NM_173808 NEGR1 Silent rs357210 1 72025716 [T/C] NM_173808 NEGR1 Silent JHU_1.72029176 1 72029177 [A/G] NM_173808 NEGR1 Silent JHU_1.72031403 1 72031404 [T/C] NM_173808 NEGR1 Silent JHU_1.72031510 1 72031511 [T/C] NM_173808 NEGR1 Silent rs138861223 1 72031511 [T/C] NM_173808 NEGR1 Silent rs142799520 1 72031691 [T/C] NM_173808 NEGR1 Silent JHU_1.72031690 1 72031691 [T/C] NM_173808 NEGR1 Silent JHU_1.72033443 1 72033444 [A/G] NM_173808 NEGR1 Silent rs141180853 1 72035254 [T/G] NM_173808 NEGR1 Silent rs78869009 1 72035928 [T/G] NM_173808 NEGR1 Silent 1:72037870-G-C 1 72037870 [G/C] NM_173808 NEGR1 Silent rs1335223 1 72038497 [T/C] NM_173808 NEGR1 Silent rs147496884 1 72041202 [A/C] NM_173808 NEGR1 Silent rs117578431 1 72047307 [A/G] NM_173808 NEGR1 Silent rs630918 1 72048072 [T/C] NM_173808 NEGR1 Silent JHU_1.72050296 1 72050297 [A/G] NM_173808 NEGR1 Silent JHU_1.72051388 1 72051389 [T/G] NM_173808 NEGR1 Silent JHU_1.72051964 1 72051965 [A/G] NM_173808 NEGR1 Silent rs1334005 1 72058405 [T/C] NM_173808 NEGR1 Silent 1:72058543-A-T 1 72058543 [A/T] NM_173808 NEGR1 EXON Synonymous_A299A exm68319 1 72058610 [T/C] NM_173808 NEGR1 EXON Missense_S277N rs3795698 1 72058756 [T/G] NM_173808 NEGR1 Silent rs1413370 1 72058801 [T/C] NM_173808 NEGR1 Silent JHU_1.72060253 1 72060254 [A/G] NM_173808 NEGR1 Silent JHU_1.72063096 1 72063097 [T/A] NM_173808 NEGR1 Silent JHU_1.72064864 1 72064865 [A/C] NM_173808 NEGR1 Silent rs619147 1 72066619 [T/C] NM_173808 NEGR1 Silent rs143942330 1 72067509 [T/C] NM_173808 NEGR1 Silent rs116426296 1 72068519 [A/G] NM_173808 NEGR1 Silent rs71651483 1 72069585 [A/G] NM_173808 NEGR1 Silent exm-rs10493485 1 72071129 [A/T] NM_173808 NEGR1 Silent 1:72076744-C-T 1 72076744 [T/C] NM_173808 NEGR1 EXON Synonymous_P251P 1:72076746-GA 1 72076746 [A/G] NM_173808 NEGR1 EXON Missense_P251S 1:72076794-C-T 1 72076794 [T/C] NM_173808 NEGR1 EXON Missense_V235M 1:72076795-G-T 1 72076795 [T/G] NM_173808 NEGR1 EXON Synonymous_T234T JHU_1.72076952 1 72076953 [A/G] NM_173808 NEGR1 Silent JHU_1.72079353 1 72079354 [T/G] NM_173808 NEGR1 Silent rs1762732 1 72080604 [T/C] NM_173808 NEGR1 Silent rs484724 1 72083243 [T/C] NM_173808 NEGR1 Silent JHU_1.72087473 1 72087474 [T/A] NM_173808 NEGR1 Silent rs147076515 1 72088997 [A/G] NM_173808 NEGR1 Silent rs6696052 1 72090075 [A/G] NM_173808 NEGR1 Silent rs113569318 1 72090171 [A/T] NM_173808 NEGR1 Silent JHU_1.72090272 1 72090273 [T/C] NM_173808 NEGR1 Silent rs72677172 1 72094080 [T/G] NM_173808 NEGR1 Silent rs369852557 1 72095532 [T/C] NM_173808 NEGR1 Silent rs147867942 1 72098521 [T/C] NM_173808 NEGR1 Silent JHU_1.72102011 1 72102012 [A/G] NM_173808 NEGR1 Silent rs1041676 1 72104447 [T/C] NM_173808 NEGR1 Silent rs77328472 1 72106339 [A/C] NM_173808 NEGR1 Silent JHU_1.72106511 1 72106512 [T/C] NM_173808 NEGR1 Silent rs145831342 1 72107552 [T/C] NM_173808 NEGR1 Silent JHU_1.72108833 1 72108834 [A/T] NM_173808 NEGR1 Silent rs141491252 1 72111911 [A/G] NM_173808 NEGR1 Silent rs34852651 1 72112976 [T/C] NM_173808 NEGR1 Silent JHU_1.72115905 1 72115906 [A/G] NM_173808 NEGR1 Silent rs116074801 1 72116083 [T/A] NM_173808 NEGR1 Silent rs145649993 1 72118114 [A/G] NM_173808 NEGR1 Silent JHU_1.72119229 1 72119230 [A/C] NM_173808 NEGR1 Silent rs72677177 1 72120034 [A/G] NM_173808 NEGR1 Silent rs954299 1 72121585 [A/C] NM_173808 NEGR1 Silent rs76722378 1 72122693 [T/C] NM_173808 NEGR1 Silent rs78216194 1 72123919 [A/G] NM_173808 NEGR1 Silent JHU_1.72129146 1 72129147 [T/A] NM_173808 NEGR1 Silent JHU_1.72134340 1 72134341 [T/C] NM_173808 NEGR1 Silent 1:72136335-T-C 1 72136335 [T/C] NM_173808 NEGR1 Silent rs10889924 1 72136346 [A/C] NM_173808 NEGR1 Silent rs143459234 1 72137320 [G/C] NM_173808 NEGR1 Silent JHU_1.72139105 1 72139106 [A/G] NM_173808 NEGR1 Silent rs76952486 1 72158308 [C/G] NM_173808 NEGR1 Silent 1:72163709-CA 1 72163709 [A/C] NM_173808 NEGR1 EXON Missense_V217L chr1_72163735 1 72163735 [T/C] NM_173808 NEGR1 EXON Missense_D208G variant.4188 1 72163755 [A/C] NM_173808 NEGR1 EXON Nonsense_Y201X 1:72163761-C-T 1 72163761 [T/C] NM_173808 NEGR1 EXON Synonymous_G199G 1:72163806-A-G 1 72163806 [A/G] NM_173808 NEGR1 EXON Synonymous_N184N rs184288087 1 72168746 [A/T] NM_173808 NEGR1 Silent rs114476197 1 72169250 [A/G] NM_173808 NEGR1 Silent rs74585863 1 72174957 [A/G] NM_173808 NEGR1 Silent rs78745281 1 72184478 [T/C] NM_173808 NEGR1 Silent JHU_1.72185505 1 72185506 [A/G] NM_173808 NEGR1 Silent JHU_1.72188435 1 72188436 [A/G] NM_173808 NEGR1 Silent JHU_1.72190528 1 72190529 [T/G] NM_173808 NEGR1 Silent JHU_1.72191573 1 72191574 [C/G] NM_173808 NEGR1 Silent rs76099857 1 72192616 [A/G] NM_173808 NEGR1 Silent rs72678925 1 72193402 [T/G] NM_173808 NEGR1 Silent rs111427019 1 72199899 [A/G] NM_173808 NEGR1 Silent rs4147264 1 72206799 [T/C] NM_173808 NEGR1 Silent rs17091704 1 72208917 [T/C] NM_173808 NEGR1 Silent rs10789324 1 72217553 [T/G] NM_173808 NEGR1 Silent rs116356994 1 72218495 [A/G] NM_173808 NEGR1 Silent 1:72221730-A-T 1 72221730 [T/A] NM_173808 NEGR1 Silent JHU_1.72222083 1 72222084 [A/C] NM_173808 NEGR1 Silent JHU_1.72222106 1 72222107 [A/C] NM_173808 NEGR1 Silent rs57328405 1 72224670 [T/C] NM_173808 NEGR1 Silent JHU_1.72227967 1 72227968 [A/G] NM_173808 NEGR1 Silent rs1599179 1 72234070 [A/G] NM_173808 NEGR1 Silent JHU_1.72235739 1 72235740 [A/G] NM_173808 NEGR1 Silent 1:72241904-G-A 1 72241904 [A/G] NM_173808 NEGR1 EXON Synonymous_A162A 1:72241925-G-A 1 72241925 [A/G] NM_173808 NEGR1 EXON Synonymous_N155N JHU_1.72245754 1 72245755 [A/G] NM_173808 NEGR1 Silent rs114686172 1 72246808 [T/C] NM_173808 NEGR1 Silent JHU_1.72248139 1 72248140 [T/C] NM_173808 NEGR1 Silent rs111450106 1 72251586 [A/G] NM_173808 NEGR1 Silent rs12024388 1 72253577 [T/C] NM_173808 NEGR1 Silent rs181879880 1 72254355 [T/C] NM_173808 NEGR1 Silent 1:71793264_71793265ins 1 72258947 [D/I] NM_173808 NEGR1 JHU_1.72260213 1 72260214 [T/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 EXON Silent,Silent rs531071 1 72271264 [A/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent JHU_1.72271461 1 72271462 [T/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs148025761 1 72274145 [A/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs72678965 1 72274176 [A/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent exm-rs12141391 1 72274473 [A/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent JHU_1.72281958 1 72281959 [A/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs12144209 1 72282482 [T/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs77060935 1 72283504 [T/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs77556311 1 72283772 [T/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent JHU_1.72284521 1 72284522 [T/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent JHU_1.72284910 1 72284911 [T/A] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs60795260 1 72285132 [A/T] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs12748724 1 72285182 [T/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs140524673 1 72285187 [T/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs567114 1 72289070 [T/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs546741 1 72289671 [A/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs76876174 1 72296671 [T/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent JHU_1.72297765 1 72297766 [T/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs6683448 1 72299344 [T/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent JHU_1.72302174 1 72302175 [A/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs1426178 1 72302290 [A/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs116233684 1 72308786 [T/C] NM_173808 NEGR1 Silent JHU_1.72310371 1 72310372 [A/G] NM_173808 NEGR1 Silent rs12119732 1 72310372 [A/G] NM_173808 NEGR1 Silent JHU_1.72312069 1 72312070 [A/C] NM_173808 NEGR1 Silent rs112555659 1 72312105 [T/C] NM_173808 NEGR1 Silent rs652213 1 72312643 [T/C] NM_173808 NEGR1 Silent rs113231048 1 72313990 [T/C] NM_173808 NEGR1 Silent rs17575184 1 72322935 [A/G] NM_173808 NEGR1 Silent rs142287583 1 72324842 [A/C] NM_173808 NEGR1 Silent rs80220277 1 72324940 [G/C] NM_173808 NEGR1 Silent rs591540 1 72331815 [T/G] NM_173808 NEGR1 Silent JHU_1.72333346 1 72333347 [T/C] NM_173808 NEGR1 Silent rs142469975 1 72334296 [T/G] NM_173808 NEGR1 Silent rs142887424 1 72336322 [T/G] NM_173808 NEGR1 Silent JHU_1.72339044 1 72339045 [A/T] NM_173808 NEGR1 Silent rs75316636 1 72342452 [T/C] NM_173808 NEGR1 Silent rs150152460 1 72343621 [T/C] NM_173808 NEGR1 Silent JHU_1.72350608 1 72350609 [T/C] NM_173808 NEGR1 Silent JHU_1.72352068 1 72352069 [A/G] NM_173808 NEGR1 Silent JHU_1.72352139 1 72352140 [A/G] NM_173808 NEGR1 Silent rs648556 1 72352237 [A/G] NM_173808 NEGR1 Silent JHU_1.72360618 1 72360619 [A/T] NM_173808 NEGR1 Silent JHU_1.72361187 1 72361188 [T/G] NM_173808 NEGR1 Silent rs11209865 1 72362338 [T/G] NM_173808 NEGR1 Silent rs75695587 1 72367961 [T/C] NM_173808 NEGR1 Silent JHU_1.72367960 1 72367961 [T/C] NM_173808 NEGR1 Silent rs1765607 1 72370307 [T/C] NM_173808 NEGR1 Silent JHU_1.72373410 1 72373411 [T/C] NM_173808 NEGR1 Silent JHU_1.72375076 1 72375077 [A/G] NM_173808 NEGR1 Silent rs34490182 1 72377152 [A/G] NM_173808 NEGR1 Silent JHU_1.72381886 1 72381887 [T/C] NM_173808 NEGR1 Silent rs7527501 1 72391457 [T/C] NM_173808 NEGR1 Silent rs147238710 1 72391830 [A/G] NM_173808 NEGR1 Silent JHU_1.72391917 1 72391918 [T/G] NM_173808 NEGR1 Silent rs78371350 1 72395462 [A/G] NM_173808 NEGR1 Silent rs115651171 1 72395823 [A/G] NM_173808 NEGR1 Silent JHU_1.72397815 1 72397816 [A/G] NM_173808 NEGR1 Silent JHU_1.72400234 1 72400235 [T/C] NM_173808 NEGR1 Silent variant.4189 1 72400757 [A/C] NM_173808 NEGR1 Silent 1:72400778-C-T 1 72400778 [T/C] NM_173808 NEGR1 EXON Synonymous_V131V 1:72400797-GT 1 72400797 [T/G] NM_173808 NEGR1 EXON Missense_T125K 1:72400820-C-T 1 72400820 [T/C] NM_173808 NEGR1 EXON Synonymous_T117T 1:72400878-T-C 1 72400878 [T/C] NM_173808 NEGR1 EXON Missense_K98R 1:72400931-C-T 1 72400931 [T/C] NM_173808 NEGR1 EXON Synonymous_A80A rs2768395 1 72402030 [T/C] NM_173808 NEGR1 Silent rs2256913 1 72402880 [A/G] NM_173808 NEGR1 Silent JHU_1.72402918 1 72402919 [A/G] NM_173808 NEGR1 Silent rs17517330 1 72403762 [T/G] NM_173808 NEGR1 Silent rs72680810 1 72403876 [A/G] NM_173808 NEGR1 Silent rs76169463 1 72404456 [T/C] NM_173808 NEGR1 Silent exm2268706 1 72410812 [T/C] NM_173808 NEGR1 Silent JHU_1.72411288 1 72411289 [T/C] NM_173808 NEGR1 Silent rs150502352 1 72414375 [T/C] NM_173808 NEGR1 Silent rs7528016 1 72416763 [T/C] NM_173808 NEGR1 Silent rs2554411 1 72421502 [T/C] NM_173808 NEGR1 Silent rs146555989 1 72422875 [T/C] NM_173808 NEGR1 Silent rs7513441 1 72424117 [A/G] NM_173808 NEGR1 Silent rs12024769 1 72428834 [T/C] NM_173808 NEGR1 Silent rs185635883 1 72441492 [A/C] NM_173808 NEGR1 Silent rs10518394 1 72442018 [T/C] NM_173808 NEGR1 Silent rs116382147 1 72442510 [T/G] NM_173808 NEGR1 Silent rs17092014 1 72442583 [A/C] NM_173808 NEGR1 Silent rs111711363 1 72447494 [A/G] NM_173808 NEGR1 Silent JHU_1.72456703 1 72456704 [T/C] NM_173808 NEGR1 Silent rs6661979 1 72458685 [T/C] NM_173808 NEGR1 Silent rs2029155 1 72458866 [T/C] NM_173808 NEGR1 Silent JHU_1.72460679 1 72460680 [A/G] NM_173808 NEGR1 Silent JHU_1.72461381 1 72461382 [T/C] NM_173808 NEGR1 Silent rs12139692 1 72461382 [T/C] NM_173808 NEGR1 Silent rs11209884 1 72464603 [A/G] NM_173808 NEGR1 Silent rs2801325 1 72464738 [A/G] NM_173808 NEGR1 Silent rs1954600 1 72469148 [T/C] NM_173808 NEGR1 Silent JHU_1.72476619 1 72476620 [T/C] NM_173808 NEGR1 Silent rs12567329 1 72477924 [A/G] NM_173808 NEGR1 Silent JHU_1.72479672 1 72479673 [A/G] NM_173808 NEGR1 Silent rs3102906 1 72488815 [A/G] NM_173808 NEGR1 Silent rs76397177 1 72490496 [A/G] NM_173808 NEGR1 Silent rs12023418 1 72492583 [A/G] NM_173808 NEGR1 Silent rs61767486 1 72493454 [T/C] NM_173808 NEGR1 Silent rs75039164 1 72498403 [T/C] NM_173808 NEGR1 Silent JHU_1.72498577 1 72498578 [A/G] NM_173808 NEGR1 Silent rs3128557 1 72499912 [A/C] NM_173808 NEGR1 Silent rs1486090 1 72508296 [A/G] NM_173808 NEGR1 Silent JHU_1.72509682 1 72509683 [T/C] NM_173808 NEGR1 Silent JHU_1.72509728 1 72509729 [A/G] NM_173808 NEGR1 Silent JHU_1.72509741 1 72509742 [C/G] NM_173808 NEGR1 Silent rs113731793 1 72511673 [A/G] NM_173808 NEGR1 Silent rs12039861 1 72512391 [A/C] NM_173808 NEGR1 Silent JHU_1.72513808 1 72513809 [A/T] NM_173808 NEGR1 Silent JHU_1.72515523 1 72515524 [C/G] NM_173808 NEGR1 Silent JHU_1.72515716 1 72515717 [T/C] NM_173808 NEGR1 Silent rs1026997 1 72516287 [T/C] NM_173808 NEGR1 Silent rs1486084 1 72520941 [T/C] NM_173808 NEGR1 Silent JHU_1.72524978 1 72524979 [T/G] NM_173808 NEGR1 Silent 1:72525436-C-A 1 72525436 [A/C] NM_173808 NEGR1 Silent rs80299043 1 72526247 [G/C] NM_173808 NEGR1 Silent JHU_1.72528135 1 72528136 [T/C] NM_173808 NEGR1 Silent rs118043299 1 72530374 [T/C] NM_173808 NEGR1 Silent rs11805037 1 72531155 [T/G] NM_173808 NEGR1 Silent rs2821267 1 72531925 [A/G] NM_173808 NEGR1 Silent JHU_1.72542197 1 72542198 [T/C] NM_173808 NEGR1 Silent rs115016600 1 72544044 [T/C] NM_173808 NEGR1 Silent JHU_1.72548411 1 72548412 [T/G] NM_173808 NEGR1 Silent rs988421 1 72549836 [T/C] NM_173808 NEGR1 Silent JHU_1.72556756 1 72556757 [T/C] NM_173808 NEGR1 Silent rs13373907 1 72562671 [A/G] NM_173808 NEGR1 Silent JHU_1.72563300 1 72563301 [T/C] NM_173808 NEGR1 Silent JHU_1.72565292 1 72565293 [C/G] NM_173808 NEGR1 Silent rs1486091 1 72571364 [T/C] NM_173808 NEGR1 Silent JHU_1.72574438 1 72574439 [A/C] NM_173808 NEGR1 Silent rs2821248 1 72575560 [A/G] NM_173808 NEGR1 Silent JHU_1.72577949 1 72577950 [T/A] NM_173808 NEGR1 Silent rs77944304 1 72582779 [T/C] NM_173808 NEGR1 Silent rs12128707 1 72588119 [A/G] NM_173808 NEGR1 Silent 1:72588670-T-G 1 72588670 [T/G] NM_173808 NEGR1 Silent rs72682716 1 72590964 [T/C] NM_173808 NEGR1 Silent JHU_1.72591773 1 72591774 [A/G] NM_173808 NEGR1 Silent rs17092384 1 72593459 [A/G] NM_173808 NEGR1 Silent rs115554598 1 72594798 [A/C] NM_173808 NEGR1 Silent rs2821236 1 72595125 [T/C] NM_173808 NEGR1 Silent JHU_1.72599372 1 72599373 [A/C] NM_173808 NEGR1 Silent rs114846087 1 72604495 [A/T] NM_173808 NEGR1 Silent JHU_1.72608827 1 72608828 [T/C] NM_173808 NEGR1 Silent rs79103491 1 72615624 [C/G] NM_173808 NEGR1 Silent JHU_1.72615623 1 72615624 [C/G] NM_173808 NEGR1 Silent rs72939393 1 72615742 [T/C] NM_173808 NEGR1 Silent rs180735315 1 72619723 [C/G] NM_173808 NEGR1 Silent rs2821299 1 72621151 [C/G] NM_173808 NEGR1 Silent rs148364864 1 72625074 [T/C] NM_173808 NEGR1 Silent rs143325968 1 72625168 [A/C] NM_173808 NEGR1 Silent rs12755450 1 72628347 [T/C] NM_173808 NEGR1 Silent rs2821296 1 72629795 [T/C] NM_173808 NEGR1 Silent JHU_1.72635995 1 72635996 [A/C] NM_173808 NEGR1 Silent JHU_1.72637747 1 72637748 [T/C] NM_173808 NEGR1 Silent rs7511985 1 72642505 [A/G] NM_173808 NEGR1 Silent JHU_1.72648456 1 72648457 [A/G] NM_173808 NEGR1 Silent JHU_1.72650672 1 72650673 [A/C] NM_173808 NEGR1 Silent 1:72651615-C-T 1 72651615 [T/C] NM_173808 NEGR1 Silent 1:72652464-T-C 1 72652464 [T/C] NM_173808 NEGR1 Silent 1:72654177-A-G 1 72654177 [A/G] NM_173808 NEGR1 Silent rs2298152 1 72654730 [A/G] NM_173808 NEGR1 Silent 1:72657058-C-T 1 72657058 [T/C] NM_173808 NEGR1 Silent 1:72661307-C-T 1 72661307 [T/C] NM_173808 NEGR1 Silent 1:72662441-T-C 1 72662441 [T/C] NM_173808 NEGR1 Silent JHU_1.72663392 1 72663393 [T/C] NM_173808 NEGR1 Silent 1:72664121-G-T 1 72664121 [T/G] NM_173808 NEGR1 Silent JHU_1.72664147 1 72664148 [T/A] NM_173808 NEGR1 Silent JHU_1.72664951 1 72664952 [T/G] NM_173808 NEGR1 Silent 1:72666000-C-T 1 72666000 [T/C] NM_173808 NEGR1 Silent 1:72666213-T-C 1 72666213 [T/C] NM_173808 NEGR1 Silent rs117446753 1 72670156 [T/C] NM_173808 NEGR1 Silent JHU_1.72673477 1 72673478 [T/C] NM_173808 NEGR1 Silent 1:72678581-A-G 1 72678581 [A/G] NM_173808 NEGR1 Silent JHU_1.72682068 1 72682069 [T/C] NM_173808 NEGR1 Silent 1:72682853-T-C 1 72682853 [T/C] NM_173808 NEGR1 Silent 1:72686098-C-T 1 72686098 [T/C] NM_173808 NEGR1 Silent 1:72686292-A-G 1 72686292 [A/G] NM_173808 NEGR1 Silent JHU_1.72687646 1 72687647 [A/T] NM_173808 NEGR1 Silent rs117331475 1 72689006 [A/T] NM_173808 NEGR1 Silent 1:72691853-C-T 1 72691853 [T/C] NM_173808 NEGR1 Silent JHU_1.72694904 1 72694905 [T/C] NM_173808 NEGR1 Silent rs1194269 1 72703860 [A/G] NM_173808 NEGR1 Silent rs1194268 1 72704368 [T/C] NM_173808 NEGR1 Silent rs115353241 1 72704576 [A/G] NM_173808 NEGR1 Silent 1:72704688-A-T 1 72704688 [T/A] NM_173808 NEGR1 Silent 1:72705673-C-T 1 72705673 [T/C] NM_173808 NEGR1 Silent rs144791313 1 72706869 [T/C] NM_173808 NEGR1 Silent rs75591957 1 72706888 [T/G] NM_173808 NEGR1 Silent 1:72707572-T-C 1 72707572 [T/C] NM_173808 NEGR1 Silent 1:72708956-T-C 1 72708956 [T/C] NM_173808 NEGR1 Silent JHU_1.72715979 1 72715980 [T/C] NM_173808 NEGR1 Silent rs72941298 1 72716335 [A/G] NM_173808 NEGR1 Silent rs142630435 1 72716517 [A/G] NM_173808 NEGR1 Silent JHU_1.72720039 1 72720040 [A/G] NM_173808 NEGR1 Silent rs10493495 1 72722584 [A/G] NM_173808 NEGR1 Silent rs147944885 1 72723295 [A/C] NM_173808 NEGR1 Silent rs9988578 1 72723479 [T/C] NM_173808 NEGR1 Silent rs2000228 1 72723863 [T/C] NM_173808 NEGR1 Silent rs11209939 1 72724012 [T/G] NM_173808 NEGR1 Silent 1:72725227-T-C 1 72725227 [T/C] NM_173808 NEGR1 Silent rs144746435 1 72733649 [A/G] NM_173808 NEGR1 Silent rs185087809 1 72735591 [G/C] NM_173808 NEGR1 Silent rs146846336 1 72735791 [T/C] NM_173808 NEGR1 Silent JHU_1.72738395 1 72738396 [A/G] NM_173808 NEGR1 Silent rs114832991 1 72743790 [T/C] NM_173808 NEGR1 Silent 1:72746391-G-A 1 72746391 [A/G] NM_173808 NEGR1 Silent 1:72748011-G-A 1 72748011 [A/G] NM_173808 NEGR1 EXON Missense_A56V exm68339 1 72748084 [C/G] NM_173808 NEGR1 EXON Missense_L32V exm68344 1 72748125 [G/C] NM_173808 NEGR1 EXON Missense_A18G 1:72748149-G-A 1 72748149 [A/G] NM_173808 NEGR1 EXON Missense_A10V rs3101338 1 72750353 [A/C] 1:72750500-A-G 1 72750500 [A/G] 1:72751134-C-T 1 72751134 [T/C] rs3101336 1 72751185 [T/C] JHU_1.72752189 1 72752190 [C/G] 1:72752230-T-C 1 72752230 [T/C] 1:72755105-C-G 1 72755105 [C/G] JHU_1.72758198 1 72758199 [A/G] 1:72758311-A-G 1 72758311 [A/G] JHU_1.72760716 1 72760717 [T/C] JHU_1.72762912 1 72762913 [A/G] 1:72764376-T-C 1 72764376 [T/C] rs2568958 1 72765116 [A/G] exm-rs2568958 1 72765116 [A/G] 1:72765741-G-A 1 72765741 [A/G] 1:72767449-T-G 1 72767449 [T/G] rs145553345 1 72806589 [C/G] 1:72811904-G-T 1 72811904 [T/G] 1:72812249-A-G 1 72812249 [A/G] 1:72812324-G-A 1 72812324 [A/G] exm-rs2815752 1 72812440 [A/G] rs2815752 1 72812440 [A/G] 1:72812657-A-G 1 72812657 [A/G] 1:72812747-C-T 1 72812747 [T/C] 1:72813129-C-T 1 72813129 [T/C] JHU_1.72813217 1 72813218 [A/C] 1:72813218-C-A 1 72813218 [A/C] 1:72813256-A-T 1 72813256 [A/T] rs150243537 1 72815069 [T/C] rs79749494 1 72818834 [A/G] rs2012697 1 72819612 [T/C] rs990871 1 72823713 [T/C] 1:72824855-G-A 1 72824855 [A/G] 1:72824860-C-T 1 72824860 [T/C] JHU_1.72825190 1 72825191 [T/A] 1:72829015-T-G 1 72829015 [T/G] 1:72829680-A-T 1 72829680 [A/T] rs2613507 1 72834503 [A/G] 1:72836456-A-T 1 72836456 [T/A] rs7531118 1 72837239 [T/C] 1:72837490-C-T 1 72837490 [T/C] 1:72837500-C-T 1 72837500 [T/C] 1:72838406-G-A 1 72838406 [A/G] rs1993709 1 72838529 [A/G] 1:72842546-C-T 1 72842546 [T/C] 1:72842892-C-T 1 72842892 [T/C] rs147626897 1 72847459 [T/G] rs114950370 1 72860308 [A/C] rs12123766 1 72861847 [A/G] JHU_1.72863537 1 72863538 [A/G] JHU_1.72865851 1 72865852 [C/G] JHU_1.72873163 1 72873164 [T/C] JHU_1.72877488 1 72877489 [A/G] rs12075127 1 72877489 [A/G] JHU_1.72877898 1 72877899 [A/C] JHU_1.72881108 1 72881109 [A/G] JHU_1.72885573 1 72885574 [T/G] JHU_1.72886696 1 72886697 [A/G] JHU_1.72896316 1 72896317 [T/G] rs79499349 1 72896317 [T/G] 1:72898495-T-C 1 72898495 [T/C] JHU_1.72899189 1 72899190 [A/C] JHU_1.72910631 1 72910632 [A/G] JHU_1.72910739 1 72910740 [A/G] rs116354540 1 72911391 [T/C] rs7535539 1 72913499 [A/C] JHU_1.72913621 1 72913622 [A/C] rs74747844 1 72914792 [T/C] rs183500063 1 72939804 [T/C] rs143551908 1 72941473 [A/G] rs74089203 1 72941970 [T/C] rs782207 1 72953251 [A/G] JHU_1.72954882 1 72954883 [T/G] JHU_1.72957165 1 72957166 [A/C] rs72684685 1 72958905 [A/G] rs77970177 1 72962190 [A/G] JHU_1.72963344 1 72963345 [T/C] rs75638902 1 72963345 [T/C] JHU_1.72966825 1 72966826 [T/C] rs115526101 1 72972382 [T/C] JHU_1.72972736 1 72972737 [T/C] JHU_1.72974013 1 72974014 [A/G] JHU_1.72974807 1 72974808 [T/C] rs782228 1 72975877 [T/C] JHU_1.72982394 1 72982395 [T/G] rs61771831 1 72984162 [A/G] rs79732943 1 72987698 [A/G] rs150063625 1 72987892 [T/G] rs782230 1 72987960 [A/G] rs77902219 1 72988887 [T/C] JHU_1.72990041 1 72990042 [T/C] rs1775367 1 72991433 [T/C] JHU_1.72992392 1 72992393 [A/G] rs1775370 1 72992856 [T/C] JHU_1.72999690 1 72999691 [T/A] JHU_1.73001525 1 73001526 [A/G] rs11585938 1 73001526 [A/G] rs74090008 1 73003332 [A/C] rs1578714 1 73006378 [A/G] JHU_1.73006604 1 73006605 [A/G] JHU_1.73009779 1 73009780 [A/G] JHU_1.73011891 1 73011892 [A/C] rs1445583 1 73012228 [A/C] JHU_1.73014144 1 73014145 [T/C] rs80340552 1 73014145 [T/C] rs75335411 1 73015715 [A/G] JHU_1.73017678 1 73017679 [A/G] JHU_1.73017819 1 73017820 [A/G] JHU_1.73020366 1 73020367 [A/T] JHU_1.73025078 1 73025079 [C/G] rs80199239 1 73027281 [A/G] rs17544161 1 73031928 [A/T] rs2255606 1 73034036 [T/C] rs2244695 1 73035775 [A/G] JHU_1.73048521 1 73048522 [T/C] rs7536009 1 73048787 [T/C] JHU_1.73052722 1 73052723 [A/G] JHU_1.73058549 1 73058550 [A/G] JHU_1.73059445 1 73059446 [A/G] JHU_1.73065931 1 73065932 [T/C] JHU_1.73067760 1 73067761 [T/C] rs17093056 1 73068994 [T/C] rs11209981 1 73069600 [A/C] rs12407207 1 73070104 [A/C] rs17093063 1 73070418 [A/C] rs4498754 1 73075423 [A/C] rs149726503 1 73082101 [A/G] rs182137796 1 73086227 [T/C] 1:73087709-G-A 1 73087709 [A/G] exm2263861 1 73090344 [A/C] rs143002200 1 73093357 [T/C] rs17093152 1 73096321 [A/G] rs11209988 1 73100055 [A/G] JHU_1.73101802 1 73101803 [A/G] rs61771874 1 73106674 [T/C] rs78484965 1 73108148 [T/C] rs12030081 1 73111887 [A/C] kgp15754827 1 73114150 [A/C] JHU_1.73120338 1 73120339 [A/G] rs140935472 1 73120509 [T/G] rs116766913 1 73129312 [T/C] rs74814939 1 73139206 [T/C] JHU_1.73142551 1 73142552 [A/G] JHU_1.73146518 1 73146519 [T/C] JHU_1.73149124 1 73149125 [A/G] rs61771891 1 73149125 [A/G] JHU_1.73166997 1 73166998 [T/C] JHU_1.73167931 1 73167932 [T/A] rs12117476 1 73171935 [T/G] JHU_1.73171934 1 73171935 [T/G] rs4509530 1 73173871 [T/C] JHU_1.73178306 1 73178307 [A/C] JHU_1.73178319 1 73178320 [A/C] rs140624319 1 73193101 [A/C] rs12072171 1 73197081 [T/C] rs2422280 1 73203025 [T/C] 1:73204396-G-A 1 73204396 [A/G] JHU_1.73207001 1 73207002 [A/T] JHU_1.73208408 1 73208409 [A/G] JHU_1.73209908 1 73209909 [A/G] JHU_1.73211875 1 73211876 [A/G] rs189173773 1 73212211 [A/C] 1:73213122-C-T 1 73213122 [T/C] rs57451720 1 73215523 [A/G] JHU_1.73218730 1 73218731 [T/G] rs11210049 1 73221921 [T/C] JHU_1.73222135 1 73222136 [A/G] rs7542932 1 73227032 [A/C] rs11210055 1 73230347 [T/C] rs2841188 1 73231948 [A/G] JHU_1.73235601 1 73235602 [T/C] JHU_1.73236975 1 73236976 [T/C] JHU_1.73237935 1 73237936 [T/C] rs614863 1 73242012 [A/C] rs117324084 1 73247915 [G/C] JHU_1.73247974 1 73247975 [A/C] rs12068319 1 73254230 [T/G] JHU_1.73255513 1 73255514 [A/G] rs41289168 1 73256657 [G/C] JHU_1.73257915 1 73257916 [T/C] JHU_1.73264912 1 73264913 [A/G] JHU_1.73266579 1 73266580 [A/C] rs185833016 1 73267306 [T/C] rs80106018 1 73273699 [T/C] rs74624629 1 73274370 [T/G] JHU_1.73277190 1 73277191 [A/C] exm2264856 1 73281986 [A/G] rs12142655 1 73284305 [A/G] JHU_1.73285192 1 73285193 [T/C] rs140843779 1 73299194 [T/C] 1:73308153-A-G 1 73308153 [A/G] JHU_1.73309004 1 73309005 [A/G] rs12144768 1 73309005 [A/G] rs116967417 1 73309560 [T/C] JHU_1.73311513 1 73311514 [A/C] rs2841193 1 73311597 [T/C] rs148114561 1 73313808 [T/C] JHU_1.73315171 1 73315172 [A/T] 1:73316342-A-G 1 73316342 [A/G] rs188743487 1 73325946 [T/C] rs2692869 1 73327954 [T/C] JHU_1.73328132 1 73328133 [T/C] rs2692866 1 73338545 [A/G] rs182397938 1 73347100 [G/C] rs116366810 1 73347143 [T/C] 1:73356887-C-T 1 73356887 [T/C] rs2692843 1 73361805 [T/G] rs76339553 1 73378846 [A/G] rs6668452 1 73386470 [A/C] JHU_1.73390448 1 73390449 [T/C] rs6660036 1 73390986 [A/G] rs117781265 1 73393837 [A/C] JHU_1.73397366 1 73397367 [T/C] JHU_1.73397729 1 73397730 [T/C] JHU_1.73399168 1 73399169 [A/G] rs4434807 1 73401801 [T/C] JHU_1.73404249 1 73404250 [T/C] rs7536364 1 73408437 [A/G] rs6424507 1 73408983 [T/C] JHU_1.73411888 1 73411889 [T/C] JHU_1.73412143 1 73412144 [A/G] kgp11812239 1 73412289 [T/G] rs112241170 1 73418133 [T/C] JHU_1.73418607 1 73418608 [T/C] rs141227810 1 73424202 [G/C] rs138633040 1 73424764 [T/C] 1:73424877-C-G 1 73424877 [C/G] kgp2501539 1 73426137 [T/G] JHU_1.73435976 1 73435977 [G/C] rs4634853 1 73438848 [T/C] rs116108743 1 73443365 [A/G] rs117428607 1 73444042 [T/C] JHU_1.73451594 1 73451595 [T/C] 1:73452248-T-C 1 73452248 [T/C] rs192815403 1 73459782 [T/C] JHU_1.73465720 1 73465721 [T/C] rs4511060 1 73467934 [T/C] rs112416616 1 73474727 [A/G] rs76291108 1 73476827 [T/C] rs4274011 1 73482160 [A/G] rs10889998 1 73484880 [A/G] rs12119161 1 73489496 [A/G] JHU_1.73491782 1 73491783 [A/G] rs12734738 1 73492303 [T/G] 1:73496819-C-T 1 73496819 [T/C] rs11210105 1 73497953 [T/C] rs74092381 1 73501343 [A/G] JHU_1.73502425 1 73502426 [A/G] 1:73503270-A-G 1 73503270 [A/G] JHU_1.73506288 1 73506289 [C/G] rs149876192 1 73506910 [A/G] 1:73507456-G-C 1 73507456 [G/C] rs140220780 1 73513110 [A/C] rs183294987 1 73516271 [A/G] rs149152112 1 73517993 [A/G] rs116426304 1 73524644 [A/G] rs77945452 1 73525938 [T/G] JHU_1.73527623 1 73527624 [T/C] rs150199749 1 73529128 [A/G] JHU_1.73537025 1 73537026 [T/C] JHU_1.73540629 1 73540630 [T/C] JHU_1.73544679 1 73544680 [T/C] JHU_1.73544714 1 73544715 [A/C] rs7512691 1 73552927 [T/C] rs141712583 1 73556366 [T/C] rs10749813 1 73557945 [A/G] rs11210123 1 73559787 [T/C] rs193261106 1 73561157 [T/C] JHU_1.73562794 1 73562795 [T/A] 1:73567131-T-C 1 73567131 [T/C] JHU_1.73573902 1 73573903 [T/C] rs147869052 1 73576954 [T/C] rs116409373 1 73580353 [T/G] rs117411270 1 73586522 [A/G] rs4452995 1 73613560 [T/C] rs6424522 1 73614563 [T/C] JHU_1.73615891 1 73615892 [A/G] JHU_1.73625377 1 73625378 [T/C] rs7523688 1 73625777 [A/G] JHU_1.73635890 1 73635891 [A/G] rs79834275 1 73636188 [T/A] rs11210169 1 73637421 [T/C] JHU_1.73639062 1 73639063 [T/G] exm2268901 1 73639751 [T/C] JHU_1.73647653 1 73647654 [A/G] rs115895107 1 73647654 [A/G] JHU_1.73651231 1 73651232 [T/C] rs114866288 1 73656334 [A/G] rs13376434 1 73656595 [T/C] rs115263422 1 73657805 [T/C] rs11210178 1 73658061 [T/C] JHU_1.73659125 1 73659126 [T/C] rs149540454 1 73660725 [T/C] rs10890018 1 73662169 [A/G] rs61765605 1 73664277 [T/C] JHU_1.73666131 1 73666132 [T/C] rs6692884 1 73669845 [A/G] rs4384176 1 73670808 [A/G] kgp8152830 1 73676969 [T/C] JHU_1.73677952 1 73677953 [T/G] JHU_1.73678470 1 73678471 [A/C] JHU_1.73679514 1 73679515 [A/C] JHU_1.73679527 1 73679528 [A/T] JHU_1.73679955 1 73679956 [T/C] rs6661183 1 73717809 [T/A] JHU_1.73719421 1 73719422 [T/G] rs72954257 1 73719634 [C/G] JHU_1.73721578 1 73721579 [A/C] rs10890024 1 73728970 [T/C] rs114871805 1 73734302 [A/G] rs149439698 1 73734724 [A/G] rs4498757 1 73742019 [T/C] rs6684341 1 73744843 [T/C] rs72676680 1 73745527 [T/C] rs191126064 1 73746789 [A/C] JHU_1.73753098 1 73753099 [T/C] JHU_1.73760107 1 73760108 [T/A] rs12145366 1 73760108 [A/T] rs11210201 1 73766431 [T/G] rs151172606 1 73767940 [A/G] rs12129573 1 73768366 [A/C] JHU_1.73770423 1 73770424 [A/G] rs75605767 1 73771019 [A/C] JHU_1.73772143 1 73772144 [A/G] NR_110677,NR_110676 LINC01360,LINC01360 Silent,Silent rs139338834 1 73773315 [A/G] NR_110676 LINC01360 Silent JHU_1.73774226 1 73774227 [A/C] NR_110676 LINC01360 Silent JHU_1.73781050 1 73781051 [G/C] NR_110676 LINC01360 Silent rs142691299 1 73785402 [A/G] NR_110676 LINC01360 Silent rs139187352 1 73785512 [A/T] NR_110676 LINC01360 Silent rs150260341 1 73787436 [A/G] NR_110676 LINC01360 Silent rs1885246 1 73793499 [T/C] NR_110676 LINC01360 Silent rs138452748 1 73793740 [T/A] NR_110676 LINC01360 Silent kgp8604590 1 73799968 [T/G] NR_110676 LINC01360 Silent rs150645200 1 73810199 [T/C] rs185545554 1 73812539 [C/G] JHU_1.73815284 1 73815285 [T/G] 1:73815955-A-G 1 73815955 [A/G] rs117158489 1 73816137 [T/C] rs10789369 1 73824909 [A/G] rs79182822 1 73830109 [T/C] rs117835522 1 73830424 [T/G] rs75559112 1 73830674 [A/G] rs189113470 1 73831297 [A/T] JHU_1.73839780 1 73839781 [T/C] rs57219830 1 73840932 [A/G] JHU_1.73852273 1 73852274 [T/A] rs58391878 1 73854549 [T/C] rs146203837 1 73856001 [T/C] rs74580913 1 73858220 [T/C] JHU_1.73868341 1 73868342 [T/G] rs11210234 1 73876716 [T/G] JHU_1.73876715 1 73876716 [T/G] rs1475064 1 73882478 [A/G] exm2264857 1 73882478 [A/G] rs1475065 1 73882880 [A/G] rs75734155 1 73887531 [A/G] JHU_1.73887997 1 73887998 [A/G] rs78638988 1 73896759 [T/C] rs4113050 1 73910055 [T/C] rs501899 1 73920352 [T/C] rs12131367 1 73921658 [T/G] rs561076 1 73927488 [A/G] JHU_1.73927541 1 73927542 [A/G] rs150653262 1 73931300 [A/G] rs12140865 1 73932886 [A/C] 1:73934145-A-G 1 73934145 [A/G] rs11210259 1 73935251 [A/G] rs1416267 1 73939302 [A/C] rs1501483 1 73945480 [T/C] rs9425120 1 73951515 [T/C] rs12139950 1 73959879 [A/G] JHU_1.73965868 1 73965869 [C/G] rs74941358 1 73966803 [A/G] rs118077881 1 73968430 [A/G] rs116924119 1 73969789 [T/C] rs139249264 1 73969974 [T/C] rs4384177 1 73982084 [T/G] rs12757636 1 73982713 [T/C] rs10890042 1 73993804 [T/G] rs115511613 1 73995695 [A/C] rs1501488 1 73996208 [T/C] rs12142513 1 73996997 [A/C] rs149044060 1 74006482 [T/C] rs185089890 1 74013502 [T/C] rs2062664 1 74017178 [T/C] JHU_1.74018224 1 74018225 [A/G] rs6669337 1 74022034 [A/C] JHU_1.74022111 1 74022112 [A/G] JHU_1.74030557 1 74030558 [A/G] rs79925682 1 74033265 [A/G] rs12133927 1 74043705 [T/C] rs4649988 1 74048649 [T/C] JHU_1.74051421 1 74051422 [T/C] rs7546041 1 74055240 [A/G] rs117050927 1 74059512 [T/C] rs11210306 1 74076528 [A/G] JHU_1.74082873 1 74082874 [A/C] rs2341263 1 74083035 [T/C] JHU_1.74086639 1 74086640 [A/G] JHU_1.74088810 1 74088811 [T/C] JHU_1.74090401 1 74090402 [T/G] rs1576429 1 74092495 [A/G] JHU_1.74093522 1 74093523 [T/C] rs6680131 1 74106106 [A/G] rs1329986 1 74107985 [T/C] rs7367782 1 74109744 [T/C] JHU_1.74122298 1 74122299 [T/C] rs369272390 1 74125796 [A/G] rs9425123 1 74129905 [A/G] rs4617355 1 74138765 [A/G] rs11210325 1 74139105 [T/C] JHU_1.74139582 1 74139583 [C/G] JHU_1.74141770 1 74141771 [G/C] NR_146300 LINC02238 Silent JHU_1.74142191 1 74142192 [A/G] NR_146300 LINC02238 Silent rs9425014 1 74145078 [A/G] NR_146300 LINC02238 Silent rs2221052 1 74147300 [T/C] NR_146300 LINC02238 Silent JHU_1.74147431 1 74147432 [A/G] NR_146300 LINC02238 Silent rs2880289 1 74151316 [A/G] NR_146300 LINC02238 Silent rs148849358 1 74159961 [T/G] NR_146300 LINC02238 Silent JHU_1.74161794 1 74161795 [T/C] NR_146300 LINC02238 Silent rs4364823 1 74164100 [T/C] NR_146300 LINC02238 Silent rs4291455 1 74166048 [T/C] NR_146300 LINC02238 Silent rs4650224 1 74166959 [A/G] NR_146300 LINC02238 Silent rs12145301 1 74170796 [A/G] NR_146300 LINC02238 Silent JHU_1.74170975 1 74170976 [T/C] NR_146300 LINC02238 Silent JHU_1.74173772 1 74173773 [T/C] NR_146300 LINC02238 Silent rs1497840 1 74174778 [A/G] NR_146300 LINC02238 Silent rs114722222 1 74177984 [A/G] NR_146300 LINC02238 Silent rs148620276 1 74179254 [T/C] NR_146300 LINC02238 Silent rs7515492 1 74183738 [T/C] NR_146300 LINC02238 Silent rs2341264 1 74184409 [T/C] NR_146300 LINC02238 Silent rs78585798 1 74191796 [A/G] NR_146300 LINC02238 Silent JHU_1.74194888 1 74194889 [A/G] NR_146300 LINC02238 Silent JHU_1.74196383 1 74196384 [T/C] NR_146300 LINC02238 Silent rs10789377 1 74200925 [A/G] NR_146300 LINC02238 Silent rs12058491 1 74202064 [T/C] NR_146300 LINC02238 EXON Silent rs79537839 1 74203500 [T/C] NR_146300 LINC02238 EXON Silent rs11210335 1 74204559 [A/C] rs111694471 1 74204948 [A/G] JHU_1.74204952 1 74204953 [A/T] JHU_1.74207548 1 74207549 [T/C] rs17094286 1 74208960 [T/C] JHU_1.74217744 1 74217745 [T/A] rs72682120 1 74220455 [A/G] rs11210343 1 74220796 [A/G] rs6680989 1 74228366 [A/G] JHU_1.74235395 1 74235396 [T/C] JHU_1.74235620 1 74235621 [T/C] rs12747828 1 74238978 [A/C] rs17576512 1 74239936 [A/C] JHU_1.74244750 1 74244751 [A/G] rs17094377 1 74247739 [A/G] rs149754289 1 74249022 [C/G] rs1874731 1 74249035 [T/C] JHU_1.74250061 1 74250062 [A/G] rs4147207 1 74251125 [T/C] rs113036613 1 74253487 [T/C] JHU_1.74253486 1 74253487 [T/C] rs114162909 1 74254185 [A/G] rs138466838 1 74256059 [T/C] rs72682195 1 74256293 [T/C] JHU_1.74259765 1 74259766 [T/A] rs1353671 1 74260853 [T/C] JHU_1.74261028 1 74261029 [A/C] rs116494325 1 74264107 [A/G] rs1340429 1 74264228 [A/G] rs12405455 1 74269161 [A/G] JHU_1.74274113 1 74274114 [A/G] rs10493524 1 74274122 [A/C] rs116781935 1 74284521 [A/G] rs1353674 1 74285921 [T/C] rs10890079 1 74286408 [T/C] JHU_1.74287896 1 74287897 [A/C] JHU_1.74290714 1 74290715 [A/C] JHU_1.74291299 1 74291300 [T/C] rs75102042 1 74297489 [T/C] rs1948614 1 74298156 [T/C] rs1948615 1 74298228 [T/C] rs2016423 1 74298254 [T/G] JHU_1.74298406 1 74298407 [T/C] JHU_1.74299063 1 74299064 [A/G] rs12401808 1 74299658 [T/C] rs1671060 1 74301699 [A/G] JHU_1.74305209 1 74305210 [A/G] JHU_1.74305540 1 74305541 [A/T] rs12068272 1 74314526 [T/G] JHU_1.74319770 1 74319771 [T/G] rs1454610 1 74321238 [A/G] JHU_1.74326249 1 74326250 [G/C] JHU_1.74326377 1 74326378 [A/G] JHU_1.74326483 1 74326484 [A/G] rs1671053 1 74327626 [A/C] JHU_1.74328232 1 74328233 [A/G] JHU_1.74328269 1 74328270 [T/C] rs1340440 1 74329368 [A/G] rs140245952 1 74329537 [A/T] rs1869580 1 74331281 [G/C] rs192339513 1 74331320 [A/G] rs115132233 1 74334605 [T/C] rs10789381 1 74336445 [T/C] rs6672527 1 74338530 [T/C] exm-rs11210359 1 74339167 [A/G] rs17094526 1 74339731 [T/C] rs141812828 1 74339932 [T/C] rs76454372 1 74340315 [C/G] rs2014651 1 74345867 [A/G] rs11210364 1 74350248 [A/G] JHU_1.74354147 1 74354148 [A/T] rs6700775 1 74355110 [A/G] rs180991179 1 74357311 [T/C] rs74359663 1 74359565 [T/C] rs9662577 1 74361342 [T/C] rs17094575 1 74364041 [T/G] rs78140191 1 74365252 [C/G] rs75040060 1 74368484 [A/C] rs143794352 1 74374659 [T/C] rs1619291 1 74381089 [T/C] rs1340425 1 74385848 [T/C] JHU_1.74387835 1 74387836 [A/G] rs138042059 1 74389691 [T/C] rs17094622 1 74396180 [T/C] rs2733262 1 74396896 [T/C] JHU_1.74399480 1 74399481 [T/C] rs79007764 1 74403712 [T/G] JHU_1.74407710 1 74407711 [T/G] JHU_1.74410087 1 74410088 [A/G] rs78907954 1 74416731 [T/G] JHU_1.74424805 1 74424806 [T/A] rs17094662 1 74425223 [T/C] JHU_1.74430341 1 74430342 [A/G] JHU_1.74443840 1 74443841 [T/G] JHU_1.74444169 1 74444170 [T/C] rs78968377 1 74444716 [A/G] rs10890101 1 74445584 [T/C] rs2880560 1 74445650 [A/G] rs9662322 1 74452323 [T/G] rs11210389 1 74454701 [A/C] JHU_1.74455100 1 74455101 [T/A] JHU_1.74455110 1 74455111 [A/T] rs145540249 1 74456569 [T/C] JHU_1.74456808 1 74456809 [A/G] rs2343192 1 74456961 [T/C] JHU_1.74460925 1 74460926 [T/C] rs59295640 1 74463145 [T/C] JHU_1.74463643 1 74463644 [G/C] rs72958200 1 74464055 [A/G] JHU_1.74465159 1 74465160 [A/G] rs17588031 1 74465302 [A/G] JHU_1.74466213 1 74466214 [T/C] JHU_1.74466311 1 74466312 [A/G] rs12045527 1 74466665 [T/C] rs10493535 1 74468533 [T/C] JHU_1.74468802 1 74468803 [A/G] rs71655424 1 74473623 [T/C] rs117979679 1 74475469 [A/C] rs143210288 1 74476546 [T/C] rs12406113 1 74484773 [A/C] rs11210399 1 74484823 [A/C] rs373830307 1 74486335 [T/C] rs34174464 1 74486995 [C/G] rs146211582 1 74489524 [G/C] rs35325059 1 74490343 [A/G] exm68367 1 74492543 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_V610A 1:74492630-TC 1 74492630 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_I422V,Missense_H581R JHU_1.74494397 1 74494398 [A/T] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs116876199 1 74498376 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs181523645 1 74499425 [A/T] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs115687201 1 74500441 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent JHU_1.74500440 1 74500441 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs115784519 1 74504156 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs151080901 1 74504999 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent exm68374 1 74506926 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_K563N exm68376 1 74506942 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_A558V variant.4191 1 74506991 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Nonsense_E542X exm68384 1 74507042 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_R525C 1:74507071-CT 1 74507071 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_R515H 1:74507096-CT 1 74507096 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_E507K 1:74507154-CT 1 74507154 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Nonsense_W487X exm68385 1 74507159 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_V486I 1:74507166-TG 1 74507166 [T/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_L483F indel.4192 1 74507218 [D/I] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON exm68388 1 74507249 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Missense_A456S variant.4193 1 74507267 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Nonsense_R450X exm68393 1 74507410 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_R402Q,Missense_R402Q exm68394 1 74507423 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_I398V,Missense_I398V exm68395 1 74507450 [C/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_H389D,Missense_H389D chr1_74507473 1 74507473 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_Y381C,Missense_Y381C 1:74507489-GA 1 74507489 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_H376Y,Missense_H376Y rs141950825 1 74508032 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs6424572 1 74513945 [T/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent JHU_1.74520894 1 74520895 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent JHU_1.74521410 1 74521411 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs1072935 1 74522280 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs12039467 1 74529349 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs143393689 1 74534979 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent 1:74540363-TC 1 74540363 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_R327G,Missense_R327G exm68401 1 74540389 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_D318G,Missense_D318G exm68403 1 74540465 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_Y293H,Missense_Y293H rs17094802 1 74540820 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs11210405 1 74547515 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs146549387 1 74548539 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent JHU_1.74556167 1 74556168 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs10789387 1 74560411 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs11210407 1 74560603 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs4650246 1 74561386 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs144735778 1 74572914 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent exm68405 1 74575139 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_L269R,Missense_L269R exm68408 1 74575157 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_G263E,Missense_G263E 1:74575182-CT 1 74575182 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_A255T,Missense_A255T Variant78 1 74575212 [I/D] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Variant12420 1 74575213 [I/D] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON JHU_1.74576071 1 74576072 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs79365264 1 74577589 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent JHU_1.74586484 1 74586485 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent JHU_1.74586554 1 74586555 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs1601153 1 74592761 [T/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent JHU_1.74604336 1 74604337 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent Variant12421 1 74610164 [I/D] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 rs77668274 1 74616348 [A/T] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent JHU_1.74619962 1 74619963 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent exm68413 1 74621445 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_R227C,Missense_R227C exm68416 1 74621499 [A/T] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_I209F,Missense_I209F rs141233393 1 74626558 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent JHU_1.74628141 1 74628142 [C/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent JHU_1.74642824 1 74642825 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs374053724 1 74643857 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent rs1333032 1 74644454 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent exm68422 1 74648257 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Nonsense_R180X,Nonsense_R180X indel.4200 1 74648324 [I/D] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON exm68425 1 74648325 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_H157R,Missense_H157R variant.4201 1 74648348 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Nonsense_W149X,Nonsense_W149X 1:74648362-CT 1 74648362 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_V145I,Missense_V145I exm68430 1 74648403 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_D131G,Missense_D131G 1:74648449-CAT-C 1 74648449 [I/D] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON exm68433 1 74648460 [A/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Nonsense_L112X,Nonsense_L112X exm68439 1 74649119 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 Silent,Silent exm68443 1 74649209 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_V54I,Missense_V54I 1:74649230-GA 1 74649230 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Nonsense_Q47X,Nonsense_Q47X 1:74649262-TC 1 74649262 [T/C] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_N36S,Missense_N36S 1:74649293-CCTTCT-C 1 74649293 [I/D] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON exm68448 1 74649321 [C/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Missense_W16C,Missense_W16C rs11806946 1 74663709 [A/G] NM_001322315,NM_001105659 LRRIQ3,LRRIQ3 EXON Silent,Silent exm68453 1 74663985 [A/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Missense_P21Q,Missense_P21Q,Missense_P21Q,Missense_P21Q,Missense_P21Q exm68454 1 74664011 [G/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Missense_Q30E,Missense_Q30E,Missense_Q30E,Missense_Q30E,Missense_Q30E 1:74664050-AG 1 74664050 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT Silent,Silent,Silent,Silent,Silent exm68458 1 74665396 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Missense_A57V,Missense_A57V,Missense_A57V,Missense_A57V,Missense_A57V exm68464 1 74665516 [G/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT Silent,Silent,Silent,Silent,Silent variant.4210 1 74665520 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT Silent,Silent,Silent,Silent,Silent exm68471 1 74670081 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_Y130C,Silent,Silent,Missense_Y130C exm68472 1 74670089 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Nonsense_R133X,Silent,Silent,Nonsense_R133X exm68476 1 74670251 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_S187G Variant38010 1 74670268 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Synonymous_E192E exm68486 1 74670369 [T/A] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_D226V 1:74670555-AG 1 74670555 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_Y288C exm68492 1 74670617 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_C309R 1:74670693-CT 1 74670693 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_S334L 1:74670750-TG 1 74670750 [T/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_L353R exm68504 1 74670891 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Missense_S400N 1:74671008-CT 1 74671008 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_P185L,Silent,Synonymous_L167L,Missense_P439L 1:74671028-AG 1 74671028 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_N192D,Silent,Synonymous_K173K,Missense_N446D exm68505 1 74671034 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_I194V,Silent,Synonymous_A175A,Missense_I448V exm68509 1 74671074 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_P207L,Silent,Silent,Missense_P461L exm68511 1 74671077 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_A208V,Silent,Silent,Missense_A462V var_1_74671167 1 74671167 [I/D] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON exm68515 1 74671275 [T/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_G274V,Silent,Silent,Missense_G528V exm68517 1 74671283 [A/G] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_T277A,Silent,Silent,Missense_T531A 1:74671377-AC 1 74671377 [A/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Missense_K308T,Silent,Silent,Missense_K562T exm-rs520806 1 74673341 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Silent rs520806 1 74673341 [T/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Silent rs150563550 1 74674026 [G/C] NM_001112808,NM_001199328,NM_001199327,NM_001199329,NM_003838 FPGT-TNNI3K,FPGT,FPGT-TNNI3K,FPGT,FPGT EXON Silent,Silent,Silent,Silent,Silent rs485929 1 74678285 [A/G] NM_001112808,NM_001199327 FPGT-TNNI3K,FPGT-TNNI3K Silent,Silent JHU_1.74679218 1 74679219 [T/A] NM_001112808,NM_001199327 FPGT-TNNI3K,FPGT-TNNI3K Silent,Silent JHU_1.74687866 1 74687867 [T/G] NM_001112808,NM_001199327 FPGT-TNNI3K,FPGT-TNNI3K Silent,Silent JHU_1.74692689 1 74692690 [T/C] NM_001112808,NM_001199327 FPGT-TNNI3K,FPGT-TNNI3K Silent,Silent rs368649426 1 74693873 [A/G] NM_001112808,NM_001199327 FPGT-TNNI3K,FPGT-TNNI3K Silent,Silent rs3753183 1 74699099 [T/G] NM_001112808,NM_001199327 FPGT-TNNI3K,FPGT-TNNI3K Silent,Silent rs143843098 1 74700569 [A/G] NM_001112808,NM_001199327 FPGT-TNNI3K,FPGT-TNNI3K Silent,Silent exm68529 1 74701787 [A/T] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_D128E,Missense_D128E,Missense_D14E rs140923844 1 74702765 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74708558 1 74708559 [A/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs481387 1 74710450 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs2034453 1 74712181 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent variant.4217 1 74715186 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_E179X,Nonsense_E179X,Nonsense_E65X rs45487595 1 74716310 [A/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent variant.4218 1 74716406 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R210X,Nonsense_R210X,Nonsense_R96X 1:74716407-GA 1 74716407 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_R210Q,Missense_R210Q,Missense_R96Q exm1891095 1 74716413 [A/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_T212K,Missense_T212K,Missense_T98K exm68540 1 74716443 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_A222V,Missense_A222V,Missense_A108V rs17095019 1 74717318 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74719854 1 74719855 [A/T] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs148781294 1 74721585 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74723345 1 74723346 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs117694621 1 74724102 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74726762-G-C 1 74726762 [G/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs12043716 1 74727458 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs518574 1 74731038 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs74584747 1 74734582 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74734798 1 74734799 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74734818 1 74734819 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs514012 1 74737081 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent indel.4219 1 74737318 [D/I] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON variant.4220 1 74737330 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_Q242X,Nonsense_Q242X,Nonsense_Q128X exm68544 1 74737345 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_G247S,Missense_G247S,Missense_G133S exm68545 1 74737346 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_G247V,Missense_G247V,Missense_G133V 1:74737372-AG 1 74737372 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_T256A,Missense_T256A,Missense_T142A variant.4221 1 74737397 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74737869 1 74737870 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74738152-A-G 1 74738152 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs45539631 1 74739483 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74747030 1 74747031 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs114749314 1 74751959 [G/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs11210445 1 74756402 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs6684409 1 74762198 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs151309910 1 74762561 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74763206 1 74763207 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74780194 1 74780195 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs74093686 1 74781762 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74785265 1 74785266 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs486784 1 74787647 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs1333031 1 74793878 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs17095146 1 74794119 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm2233801 1 74797140 [G/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_D265H,Missense_D265H,Missense_D151H 1:74797147-TC 1 74797147 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_L267P,Missense_L267P,Missense_L153P exm68552 1 74797201 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_L285S,Missense_L285S,Missense_L171S 1:74801807-TC 1 74801807 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_L333S,Missense_L333S,Missense_L219S JHU_1.74803796 1 74803797 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs17095161 1 74806552 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs191855013 1 74807872 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent Variant80 1 74808556 [D/I] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON newrs56257331 1 74808573 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R358X,Nonsense_R358X,Nonsense_R244X variant.4224 1 74808579 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_G360X,Nonsense_G360X,Nonsense_G246X exm68565 1 74808620 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_L373F,Missense_L373F,Missense_L259F exm68566 1 74808631 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_P377L,Missense_P377L,Missense_P263L indel.4226 1 74808813 [I/D] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON 1:74818951-GA 1 74818951 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_A426T,Missense_A426T,Missense_A312T exm68572 1 74818977 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_D434E,Missense_D434E,Missense_D320E 1:74819674-CTGCT-C 1 74819674 [I/D] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON exm68581 1 74819712 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_L473X,Nonsense_L473X,Nonsense_L359X exm68583 1 74819748 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_C485F,Missense_C485F,Missense_C371F exm68588 1 74819807 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_E505X,Nonsense_E505X,Nonsense_E391X JHU_1.74821312 1 74821313 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74823913 1 74823914 [G/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs116270478 1 74828537 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs200432313 1 74832979 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_R520I,Missense_R520I,Missense_R406I variant.4230 1 74833027 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent variant.4232 1 74833650 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74834741-CA 1 74834741 [A/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_P567T,Missense_P567T,Missense_P453T newrs41289190 1 74835124 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R622X,Nonsense_R622X,Nonsense_R508X exm68604 1 74835130 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_V624L,Missense_V624L,Missense_V510L exm68607 1 74835152 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_N631S,Missense_N631S,Missense_N517S indel.4234 1 74835231 [I/D] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON variant.4235 1 74835270 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm68618 1 74836076 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_S705T,Missense_S705T,Missense_S591T variant.4237 1 74836078 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs17095238 1 74851140 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs45596531 1 74852382 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74852628 1 74852629 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs191600282 1 74855623 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74857640 1 74857641 [T/A] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs9988473 1 74858230 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74858807 1 74858808 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm2265018 1 74861767 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs74421181 1 74863444 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74867547-GA 1 74867547 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs45460893 1 74868072 [A/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs45496298 1 74868660 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74869963 1 74869964 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74871035 1 74871036 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs72675304 1 74874695 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs792695 1 74876438 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74878728 1 74878729 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs699846 1 74880175 [A/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs79497558 1 74880487 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74884720 1 74884721 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs76096304 1 74884747 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs147272826 1 74885607 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs2203369 1 74885754 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74889992 1 74889993 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs9663048 1 74891233 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74892337-A-G 1 74892337 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74892841-G-A 1 74892841 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs274578 1 74893793 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74895355-G-A 1 74895355 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74895816-C-T 1 74895816 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74895815 1 74895816 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74897769 1 74897770 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs17544747 1 74898246 [T/A] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74898989 1 74898990 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs671149 1 74899258 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74900897-A-C 1 74900897 [A/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent indel.4238 1 74902164 [I/D] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON newrs145440221 1 74902210 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Synonymous_G740G,Synonymous_G740G,Synonymous_G626G variant.4240 1 74902215 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm2233802 1 74905205 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_T751M,Missense_T751M,Missense_T637M exm68632 1 74905291 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_A780T,Missense_A780T,Missense_A666T newrs140657235 1 74905306 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_A785T,Missense_A785T,Missense_A671T variant.4242 1 74905308 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent variant.4243 1 74905311 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74906411-G-A 1 74906411 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74906841-T-C 1 74906841 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs1022915 1 74907002 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs117176750 1 74908058 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs78213635 1 74926492 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs17095365 1 74926617 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74926794-G-A 1 74926794 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs138421668 1 74928003 [A/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs45495399 1 74928269 [A/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent JHU_1.74928562 1 74928563 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm68637 1 74929166 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_P799S,Missense_P799S,Missense_P685S exm68638 1 74929170 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_I800T,Missense_I800T,Missense_I686T variant.4245 1 74929211 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R814X,Nonsense_R814X,Nonsense_R700X JHU_1.74929610 1 74929611 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 1:74930371-TC 1 74930371 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Silent,Missense_L839P,Silent rs612695 1 74934996 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Silent,Silent 1:74935614-AG 1 74935614 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_L1231P,Missense_L1199P 1:74935665-AG 1 74935665 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_L1214S,Missense_L1182S 1:74935958-CT 1 74935958 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Nonsense_W1116X,Nonsense_W1084X 1:74936112-AG 1 74936112 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_L1065S,Missense_L1033S 1:74936140-CT 1 74936140 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_E1056K,Missense_E1024K 1:74936211-AG 1 74936211 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_I1032T,Missense_I1000T 1:74936374-AG 1 74936374 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_S978P,Missense_S946P 1:74936413-CA 1 74936413 [A/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Nonsense_E965X,Nonsense_E933X 1:74936584-TC 1 74936584 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_M908V,Missense_M876V 1:74936640-GA 1 74936640 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_P889L,Missense_P857L 1:74936863-GA 1 74936863 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_R815C,Missense_R783C 1:74936916-GA 1 74936916 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_P797L,Missense_P765L 1:74937082-AG 1 74937082 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_C742R,Missense_C710R 1:74937453-TC 1 74937453 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_D618G,Missense_D586G 1:74937535-GT 1 74937535 [T/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_P591T,Missense_P559T 1:74937676-CT 1 74937676 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_V544I,Missense_V512I rs3765674 1 74937749 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Synonymous_H519H,Synonymous_H487H 1:74937781-TC 1 74937781 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_I509V,Missense_I477V chr1_74937798 1 74937798 [T/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_E503A,Missense_E471A 1:74937828-CT 1 74937828 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_G493E,Missense_G461E 1:74937870-AG 1 74937870 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_I479T,Missense_I447T JHU_1.74938629 1 74938630 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 Silent,Silent,Silent,Silent 1:74939177-G-A 1 74939177 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 Silent,Silent,Silent,Silent exm2263826 1 74939570 [A/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 Silent,Silent,Silent,Silent Variant81 1 74941173 [D/I] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON 1:74941237-AG 1 74941237 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_S388P,Missense_S356P 1:74941242-G-A 1 74941242 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_A386V,Missense_A354V 1:74941282-TC 1 74941282 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_R373G,Missense_R341G rs649058 1 74941293 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_T369I,Missense_T337I 1:74941688-T-C 1 74941688 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 Silent,Silent,Silent,Silent rs274589 1 74942557 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 Silent,Silent,Silent,Silent rs9660478 1 74942606 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 Silent,Silent,Silent,Silent JHU_1.74946110 1 74946111 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Synonymous_S210S,Synonymous_S178S 1:74946173-GA 1 74946173 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Nonsense_R190X,Nonsense_R158X 1:74946373-CT 1 74946373 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_R123Q,Missense_R91Q 1:74946404-CT 1 74946404 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_V113M,Missense_V81M 1:74946595-TG 1 74946595 [T/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_E49A,Missense_E17A 1:74946619-GT 1 74946619 [T/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_T41N,Missense_T9N 1:74946640-GT 1 74946640 [T/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_T34N,Missense_T2N rs9326113 1 74948186 [A/G] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 Silent,Silent,Silent,Silent 1:74949026-CT 1 74949026 [T/C] NM_001112808,NM_015978,NM_001364665,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53,LRRC53 EXON Silent,Silent,Missense_R3Q,Silent 1:74953987-G-A 1 74953987 [A/G] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 Silent,Silent,Silent exm68661 1 74954900 [A/G] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 EXON Missense_M831V,Missense_M717V,Silent rs45608733 1 74955719 [T/C] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 Silent,Silent,Silent rs1998770 1 74956729 [A/G] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 Silent,Silent,Silent exm68670 1 74957907 [G/C] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 EXON Missense_E884Q,Missense_E770Q,Silent exm68672 1 74957950 [A/G] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 EXON Missense_S898N,Missense_S784N,Silent JHU_1.74966343 1 74966344 [T/C] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 Silent,Silent,Silent 1:74968029-T-C 1 74968029 [T/C] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 Silent,Silent,Silent 1:74968941-T-A 1 74968941 [A/T] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 Silent,Silent,Silent rs78132824 1 74969386 [T/G] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 Silent,Silent,Silent 1:74970369-G-A 1 74970369 [A/G] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 Silent,Silent,Silent JHU_1.74971654 1 74971655 [A/C] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 Silent,Silent,Silent 1:74977277-A-G 1 74977277 [A/G] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 Silent,Silent,Silent 1:74977425-A-G 1 74977425 [A/G] NM_001112808,NM_015978,NM_001364666 FPGT-TNNI3K,TNNI3K,LRRC53 Silent,Silent,Silent rs58647790 1 74979527 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs139492849 1 74979770 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs12036473 1 74979975 [T/A] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent JHU_1.74982783 1 74982784 [T/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74982886-A-T 1 74982886 [A/T] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74983055-A-G 1 74983055 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74983651-A-G 1 74983651 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs17095501 1 74983721 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74983835-T-C 1 74983835 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74983912-A-T 1 74983912 [T/A] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74985685-A-G 1 74985685 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74986019-C-T 1 74986019 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs45591039 1 74986668 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs45523735 1 74987358 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent JHU_1.74989008 1 74989009 [A/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74989009-A-C 1 74989009 [A/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74990803-T-C 1 74990803 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs1514177 1 74991402 [G/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74991596-G-A 1 74991596 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent exm-rs1514175 1 74991644 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs1514175 1 74991644 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74992278-T-C 1 74992278 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74992546-G-C 1 74992546 [C/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs1514174 1 74993063 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs7526762 1 74993318 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74993721-A-G 1 74993721 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent JHU_1.74993750 1 74993751 [T/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs74521402 1 74993978 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs1399160 1 74994632 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74994879-T-C 1 74994879 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74995110-C-T 1 74995110 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74995225-C-T 1 74995225 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74995450-A-G 1 74995450 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74995826-G-A 1 74995826 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs183715032 1 74995930 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74997762-A-G 1 74997762 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74997795-T-A 1 74997795 [A/T] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74997803-G-A 1 74997803 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent JHU_1.74997872 1 74997873 [A/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74997956-G-A 1 74997956 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74999713-G-A 1 74999713 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:74999907-CTT-C 1 74999907 [I/D] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K JHU_1.75000010 1 75000011 [A/T] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75000418-CT-C 1 75000418 [I/D] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K 1:75001474-A-T 1 75001474 [T/A] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75001480-C-T 1 75001480 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75001683-T-G 1 75001683 [T/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs12566985 1 75002193 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75002193-G-A 1 75002193 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75002667-G-T 1 75002667 [T/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75003500-G-A 1 75003500 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75003710-G-A 1 75003710 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75003812-T-C 1 75003812 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75004048-G-A 1 75004048 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75004611-T-C 1 75004611 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75004875-G-T 1 75004875 [T/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75004943-T-C 1 75004943 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75005067-G-A 1 75005067 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75005238-G-A 1 75005238 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75005363-G-A 1 75005363 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75005776-A-G 1 75005776 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent var_1_75005916 1 75005916 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75005980-CT 1 75005980 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K EXON Missense_T919I,Missense_T805I 1:75006027-A-G 1 75006027 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs3845348 1 75006076 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs7514705 1 75006720 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75006720-T-C 1 75006720 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75007008-A-G 1 75007008 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs6604871 1 75008008 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent 1:75008411-A-G 1 75008411 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent exm68689 1 75009655 [T/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K EXON Missense_D947Y,Missense_D833Y 1:75011358-C-T 1 75011358 [T/C] JHU_1.75011357 1 75011358 [T/C] 1:75013054-T-A 1 75013054 [A/T] rs7541513 1 75014195 [A/G] rs182498420 1 75014296 [T/C] 1:75014362-T-C 1 75014362 [T/C] 1:75014538-G-A 1 75014538 [A/G] 1:75015939-C-T 1 75015939 [T/C] JHU_1.75016514 1 75016515 [A/G] 1:75016515-G-A 1 75016515 [A/G] 1:75018960-G-T 1 75018960 [T/G] JHU_1.75019043 1 75019044 [A/G] rs1443372 1 75019436 [A/G] 1:75025133-A-C 1 75025133 [A/C] rs58599157 1 75026719 [A/G] JHU_1.75026718 1 75026719 [A/G] 1:75027661-T-C 1 75027661 [T/C] 1:75029379-C-T 1 75029379 [T/C] JHU_1.75031684 1 75031685 [A/G] JHU_1.75035747 1 75035748 [T/C] NM_001002912 ERICH3 EXON Silent exm68692 1 75036783 [T/C] NM_001002912 ERICH3 EXON Silent exm68694 1 75036812 [T/C] NM_001002912 ERICH3 EXON Missense_V1528M variant.4251 1 75036863 [A/G] NM_001002912 ERICH3 EXON Nonsense_Q1511X indel.4252 1 75036873 [I/D] NM_001002912 ERICH3 EXON exm68703 1 75037000 [T/C] NM_001002912 ERICH3 EXON Missense_R1465K exm1893109 1 75037091 [T/C] NM_001002912 ERICH3 EXON Missense_G1435R exm68709 1 75037108 [A/G] NM_001002912 ERICH3 EXON Missense_A1429V 1:75037130-TC 1 75037130 [T/C] NM_001002912 ERICH3 EXON Missense_T1422A indel.4254 1 75037272 [I/D] NM_001002912 ERICH3 EXON exm68716 1 75037334 [C/G] NM_001002912 ERICH3 EXON Missense_A1354P exm68721 1 75037385 [T/C] NM_001002912 ERICH3 EXON Missense_V1337I 1:75037520-CT 1 75037520 [T/C] NM_001002912 ERICH3 EXON Missense_E1292K exm68728 1 75037566 [G/C] NM_001002912 ERICH3 EXON Missense_E1276D 1:75037640-CA 1 75037640 [A/C] NM_001002912 ERICH3 EXON Missense_A1252S exm68736 1 75037708 [A/G] NM_001002912 ERICH3 EXON Missense_A1229V exm68739 1 75037756 [T/C] NM_001002912 ERICH3 EXON Missense_E1213G exm68740 1 75037757 [T/C] NM_001002912 ERICH3 EXON Missense_E1213K 1:75037858-CCCT-C 1 75037858 [I/D] NM_001002912 ERICH3 EXON 1:75037863-T-C 1 75037863 [T/C] NM_001002912 ERICH3 EXON Synonymous_G1177G exm68750 1 75037867 [T/C] NM_001002912 ERICH3 EXON Missense_E1176G 1:75037994-CT 1 75037994 [T/C] NM_001002912 ERICH3 EXON Missense_A1134T exm68757 1 75038050 [A/G] NM_001002912 ERICH3 EXON Missense_T1115I 1:75038068-AC 1 75038068 [A/C] NM_001002912 ERICH3 EXON Missense_V1109G 1:75038098-TG 1 75038098 [T/G] NM_001002912 ERICH3 EXON Missense_K1099T exm68764 1 75038148 [A/C] NM_001002912 ERICH3 EXON Missense_R1082S exm68766 1 75038228 [A/C] NM_001002912 ERICH3 EXON Missense_L1056V exm1893126 1 75038318 [T/G] NM_001002912 ERICH3 EXON Missense_K1026Q 1:75038333-CA 1 75038333 [A/C] NM_001002912 ERICH3 EXON Nonsense_E1021X 1:75038363-CT 1 75038363 [T/C] NM_001002912 ERICH3 EXON Missense_G1011S exm1893128 1 75038474 [T/C] NM_001002912 ERICH3 EXON Missense_I974V exm68776 1 75038477 [A/C] NM_001002912 ERICH3 EXON Missense_A973S exm68781 1 75038558 [T/C] NM_001002912 ERICH3 EXON Missense_E946K var_1_75038572 1 75038573 [D/I] NM_001002912 ERICH3 EXON exm68784 1 75038603 [T/C] NM_001002912 ERICH3 EXON Missense_G931R exm68785 1 75038608 [T/C] NM_001002912 ERICH3 EXON Missense_E929G exm68786 1 75038624 [T/C] NM_001002912 ERICH3 EXON Missense_E924K 1:75038648-GA 1 75038648 [A/G] NM_001002912 ERICH3 EXON Missense_L916F 1:75038678-TC 1 75038678 [T/C] NM_001002912 ERICH3 EXON Missense_N906D 1:75038714-CT 1 75038714 [T/C] NM_001002912 ERICH3 EXON Missense_E894K exm68796 1 75038747 [A/G] NM_001002912 ERICH3 EXON Missense_L883F exm68804 1 75038833 [G/C] NM_001002912 ERICH3 EXON Missense_G854A variant.4263 1 75038924 [A/C] NM_001002912 ERICH3 EXON Nonsense_E824X exm68815 1 75038927 [T/C] NM_001002912 ERICH3 EXON Missense_E823K exm68819 1 75038963 [A/C] NM_001002912 ERICH3 EXON Missense_A811S 1:75038984-CT 1 75038984 [T/C] NM_001002912 ERICH3 EXON Missense_V804I exm68826 1 75039091 [A/G] NM_001002912 ERICH3 EXON Missense_T768I exm68828 1 75039125 [T/C] NM_001002912 ERICH3 EXON Missense_K757E 1:75039175-GA 1 75039175 [A/G] NM_001002912 ERICH3 EXON Missense_A740V JHU_1.75039678 1 75039679 [T/C] NM_001002912 ERICH3 Silent rs12403385 1 75039679 [T/C] NM_001002912 ERICH3 Silent 1:75039962-C-A 1 75039962 [A/C] NM_001002912 ERICH3 Silent JHU_1.75040058 1 75040059 [A/T] NM_001002912 ERICH3 Silent JHU_1.75043365 1 75043366 [A/C] NM_001002912,NR_121671 ERICH3,ERICH3-AS1 Silent,Silent 1:75046292-T-C 1 75046292 [T/C] NM_001002912,NR_121671 ERICH3,ERICH3-AS1 Silent,Silent 1:75049378-G-A 1 75049378 [A/G] NM_001002912,NR_121671 ERICH3,ERICH3-AS1 Silent,Silent JHU_1.75053442 1 75053443 [A/G] NM_001002912,NR_121671 ERICH3,ERICH3-AS1 Silent,Silent JHU_1.75054216 1 75054217 [A/G] NM_001002912,NR_121671 ERICH3,ERICH3-AS1 Silent,Silent 1:75055303-GA 1 75055303 [A/G] NM_001002912,NR_121671 ERICH3,ERICH3-AS1 Silent,Silent exm68841 1 75055313 [A/G] NM_001002912,NR_121671 ERICH3,ERICH3-AS1 Silent,Silent Variant12422 1 75055399 [D/I] NM_001002912,NR_121671 ERICH3,ERICH3-AS1 EXON rs2305549 1 75055419 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_H691R,Silent,Silent exm68848 1 75055419 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_H691R,Silent,Silent 1:75055543-TC 1 75055543 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_T650A,Silent,Silent exm68857 1 75055585 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_I636V,Silent,Silent exm68859 1 75055741 [A/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_S584A,Silent,Silent exm68861 1 75055749 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_S581L,Silent,Silent variant.4266 1 75055766 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent rs696692 1 75057586 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent variant.4267 1 75065374 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent exm68864 1 75065391 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_E572K,Silent,Silent exm68870 1 75065441 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_R555H,Silent,Silent exm68873 1 75065459 [A/T] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_Q549L,Silent,Silent variant.4269 1 75065460 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Nonsense_Q549X,Silent,Silent exm68879 1 75065525 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_P527L,Silent,Silent chr1_75065576 1 75065576 [A/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_G510V,Silent,Silent rs11210485 1 75069731 [A/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent 1:75070287-G-A 1 75070287 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent rs10890137 1 75071003 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent rs3113981 1 75071939 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent rs696702 1 75072038 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent 1:75072333-GA 1 75072333 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_P481S,Silent,Silent exm68887 1 75072425 [T/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_T450N,Silent,Silent 1:75072507-CT 1 75072507 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_E423K,Silent,Silent exm68892 1 75072513 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_G421R,Silent,Silent exm68897 1 75072554 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_P407L,Silent,Silent 1:75072554-GA 1 75072554 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_P407L,Silent,Silent JHU_1.75074242 1 75074243 [T/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent 1:75076257-G-A 1 75076257 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent 1:75078224-G-C 1 75078224 [C/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent exm68899 1 75078356 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Nonsense_R380X,Silent,Silent variant.4270 1 75078422 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Nonsense_Q358X,Silent,Silent exm68901 1 75078423 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_M357I,Silent,Silent exm1893219 1 75078484 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_Q337R,Silent,Silent JHU_1.75082840 1 75082841 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent rs17095677 1 75084828 [A/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent 1:75086245-A-G 1 75086245 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 Silent,Silent,Silent 1:75086456-TC 1 75086456 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_E321G,Silent,Silent exm68906 1 75086463 [G/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_G319R,Silent,Silent 1:75086495-CT 1 75086495 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_R308Q,Silent,Silent exm68908 1 75086496 [A/G] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_R308W,Silent,Silent exm68909 1 75086510 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_D303G,Silent,Silent exm68913 1 75086570 [A/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Nonsense_L283X,Silent,Silent exm68915 1 75086586 [T/C] NM_001002912,NR_121671,NR_121670 ERICH3,ERICH3-AS1,ERICH3-AS1 EXON Missense_I278V,Silent,Silent JHU_1.75095997 1 75095998 [A/G] NM_001002912 ERICH3 Silent 1:75097401-GT 1 75097401 [T/G] NM_001002912 ERICH3 EXON Missense_T272K exm68921 1 75097426 [G/C] NM_001002912 ERICH3 EXON Missense_P264A exm68923 1 75097483 [T/G] NM_001002912 ERICH3 EXON Missense_T245P exm1893247 1 75097596 [A/G] NM_001002912 ERICH3 EXON Missense_M207T JHU_1.75098467 1 75098468 [A/C] NM_001002912 ERICH3 Silent newrs138459477 1 75101964 [T/C] NM_001002912 ERICH3 EXON Synonymous_G201G 1:75101965-CA 1 75101965 [A/C] NM_001002912 ERICH3 EXON Missense_G201V exm2253076 1 75101997 [T/C] NM_001002912 ERICH3 EXON Synonymous_S190S exm68929 1 75102044 [T/C] NM_001002912 ERICH3 EXON Missense_V175I 1:75102323-G-A 1 75102323 [A/G] NM_001002912 ERICH3 Silent exm68935 1 75107043 [T/C] NM_001002912 ERICH3 EXON Missense_D139G JHU_1.75107994 1 75107995 [A/G] NM_001002912 ERICH3 Silent rs17095697 1 75108311 [T/C] NM_001002912 ERICH3 Silent exm68944 1 75108727 [T/C] NM_001002912 ERICH3 EXON Missense_R100Q exm68950 1 75108781 [T/C] NM_001002912 ERICH3 EXON Missense_R82H rs76425747 1 75109240 [A/T] NM_001002912 ERICH3 Silent exm68952 1 75112419 [A/G] NM_001002912 ERICH3 EXON Missense_R59W variant.4275 1 75114901 [T/C] NM_001002912 ERICH3 Silent JHU_1.75115566 1 75115567 [A/G] NM_001002912 ERICH3 Silent rs730645 1 75118172 [T/C] NM_001002912 ERICH3 Silent rs564725 1 75121016 [T/C] NM_001002912 ERICH3 Silent JHU_1.75129782 1 75129783 [A/G] NM_001002912 ERICH3 Silent rs12239912 1 75130289 [T/C] NM_001002912 ERICH3 Silent JHU_1.75131308 1 75131309 [G/C] NM_001002912 ERICH3 Silent rs72675368 1 75132103 [A/T] NM_001002912 ERICH3 Silent rs11801957 1 75133493 [T/C] NM_001002912 ERICH3 Silent JHU_1.75135867 1 75135868 [T/C] NM_001002912 ERICH3 Silent 1:75139181-CT 1 75139181 [T/C] NM_001002912 ERICH3 EXON Missense_G8E rs17095729 1 75143808 [A/C] rs696666 1 75146093 [T/C] rs17095739 1 75147840 [T/C] JHU_1.75150468 1 75150469 [T/C] rs10493547 1 75151932 [A/G] rs516819 1 75153876 [A/G] rs696672 1 75155271 [A/G] rs699801 1 75157273 [T/C] JHU_1.75158601 1 75158602 [A/T] JHU_1.75159845 1 75159846 [T/C] JHU_1.75163480 1 75163481 [A/G] 1:75165182-A-T 1 75165182 [T/A] exm2268707 1 75166623 [T/C] rs6662846 1 75170143 [A/C] JHU_1.75170852 1 75170853 [A/G] kgp6377218 1 75171182 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp507955 1 75171211 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent JHU_1.75171210 1 75171211 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent rs17459 1 75171751 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15658119 1 75171784 [A/T] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15427472 1 75171844 [G/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15169674 1 75171938 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp7261306 1 75172001 [A/T] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_G289G,Synonymous_G186G,Synonymous_G323G,Synonymous_G323G exm68962 1 75172042 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_E276K,Missense_E173K,Missense_E310K,Missense_E310K exm68966 1 75172131 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_Q246R,Missense_Q143R,Missense_Q280R,Missense_Q280R kgp15427617 1 75172139 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_E243E,Synonymous_E140E,Synonymous_E277E,Synonymous_E277E variant.4276 1 75172143 [T/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent newrs145799649 1 75172583 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_K242K,Synonymous_K139K,Synonymous_K276K,Synonymous_K276K indel.4279 1 75172594 [I/D] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON 1:75172615-TC 1 75172615 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_I232V,Missense_I129V,Missense_I266V,Missense_I266V exm68970 1 75172620 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_S230L,Missense_S127L,Missense_S264L,Missense_S264L newrs142760907 1 75172642 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Nonsense_R223X,Nonsense_R120X,Nonsense_R257X,Nonsense_R257X Variant12423 1 75172646 [D/I] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON rs17552114 1 75172652 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_E219E,Synonymous_E116E,Synonymous_E253E,Synonymous_E253E 1:75172786-CT 1 75172786 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent Variant12424 1 75172845 [I/D] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON rs4650281 1 75173051 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent kgp15915289 1 75175797 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_Y205Y,Synonymous_Y68Y,Synonymous_Y205Y,Synonymous_Y205Y variant.4282 1 75175835 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Nonsense_G193X,Nonsense_G56X,Nonsense_G193X,Nonsense_G193X indel.4283 1 75175842 [I/D] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON exm68989 1 75175865 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_E183K,Missense_E46K,Missense_E183K,Missense_E183K exm68990 1 75175886 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_I176V,Missense_I39V,Missense_I176V,Missense_I176V JHU_1.75177604 1 75177605 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent rs7522428 1 75178360 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent rs13375787 1 75178713 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent rs10890142 1 75179129 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent rs35020802 1 75180398 [D/I] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ JHU_1.75181724 1 75181725 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent JHU_1.75181878 1 75181879 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent rs76654996 1 75183325 [C/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent exm68998 1 75184954 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_F123L,Silent,Missense_F123L,Missense_F123L exm69000 1 75184990 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_D111N,Silent,Missense_D111N,Missense_D111N 1:75185053-CT 1 75185053 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_G90S,Silent,Missense_G90S,Missense_G90S exm69004 1 75185057 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent variant.4287 1 75188801 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent 1:75188805-GA 1 75188805 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_F87F,Missense_S5L,Synonymous_F87F,Synonymous_F87F exm69010 1 75188902 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_R55H,Silent,Missense_R55H,Missense_R55H exm69013 1 75188918 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_V50M,Silent,Missense_V50M,Missense_V50M rs61790703 1 75189620 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent rs150775456 1 75190155 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent variant.4288 1 75190390 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent variant.4289 1 75190433 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Nonsense_R25X,Silent,Nonsense_R25X,Nonsense_R25X kgp2662069 1 75190452 [T/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_G18G,Silent,Synonymous_G18G,Synonymous_G18G rs182868625 1 75190704 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent JHU_1.75198119 1 75198120 [A/T] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent kgp9120456 1 75198740 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15455600 1 75198788 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15121168 1 75198967 [A/G] NM_001130043,NM_001134759,NM_001889,NM_001130042,NM_001162916,NM_138467,NR_027962 CRYZ,CRYZ,CRYZ,CRYZ,TYW3,TYW3,TYW3 EXON Silent,Silent,Silent,Silent,Synonymous_Q13Q,Synonymous_Q13Q,Silent exm69026 1 75199023 [A/C] NM_001130043,NM_001134759,NM_001889,NM_001130042,NM_001162916,NM_138467,NR_027962 CRYZ,CRYZ,CRYZ,CRYZ,TYW3,TYW3,TYW3 EXON Silent,Silent,Silent,Silent,Missense_E32A,Missense_E32A,Silent JHU_1.75200218 1 75200219 [C/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 Silent,Silent,Silent 1:75202274-GA 1 75202274 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_V75I,Missense_V75I,Silent rs11538281 1 75204447 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Silent,Missense_R110Q,Silent exm69035 1 75204447 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Silent,Missense_R110Q,Silent JHU_1.75205513 1 75205514 [T/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 Silent,Silent,Silent rs180719418 1 75209236 [T/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 Silent,Silent,Silent rs1133891 1 75214441 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_M88V,Missense_M121V,Silent exm69040 1 75214441 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_M88V,Missense_M121V,Silent rs28378934 1 75215689 [T/C] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 Silent,Silent,Silent exm69047 1 75218014 [A/C] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_S122R,Missense_S155R,Silent rs3845356 1 75219066 [G/C] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 Silent,Silent,Silent JHU_1.75220821 1 75220822 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 Silent,Silent,Silent rs76708762 1 75226225 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 Silent,Silent,Silent rs79599340 1 75227722 [T/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 Silent,Silent,Silent variant.4291 1 75229576 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 Silent,Silent,Silent exm69050 1 75229588 [T/C] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_C158R,Missense_C191R,Silent exm69051 1 75229609 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_R165G,Missense_R198G,Silent exm2273656 1 75229621 [T/A] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Missense_T169S,Missense_T202S,Silent indel.4292 1 75229679 [D/I] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON 1:75229742-AATG-A 1 75229742 [D/I] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON rs3931020 1 75235317 [T/C] rs10874122 1 75235866 [A/G] 1:75237265-T-G 1 75237265 [T/G] JHU_1.75239965 1 75239966 [T/C] rs12125889 1 75241971 [T/C] rs148121868 1 75245193 [C/G] JHU_1.75252253 1 75252254 [A/T] JHU_1.75252273 1 75252274 [T/C] rs7547190 1 75252764 [T/C] rs1575983 1 75262196 [A/C] rs188718644 1 75267511 [T/C] JHU_1.75268494 1 75268495 [T/G] rs2345439 1 75272321 [T/C] JHU_1.75272320 1 75272321 [T/C] JHU_1.75273459 1 75273460 [A/G] rs12738201 1 75275749 [A/C] rs12759641 1 75276832 [T/A] JHU_1.75276969 1 75276970 [T/C] JHU_1.75277894 1 75277895 [A/C] JHU_1.75278858 1 75278859 [A/C] rs77453460 1 75279249 [T/C] rs78753963 1 75281380 [A/C] rs191439441 1 75283866 [T/C] rs77212474 1 75287584 [A/G] rs12409914 1 75289607 [A/C] rs277357 1 75290369 [T/C] rs277353 1 75296301 [T/C] rs11161851 1 75298782 [T/C] rs146584832 1 75299576 [A/G] rs277367 1 75300318 [A/C] rs17096072 1 75301386 [T/C] JHU_1.75304226 1 75304227 [T/A] rs77969431 1 75304706 [T/C] JHU_1.75308636 1 75308637 [T/C] rs1327080 1 75311357 [A/G] rs151025701 1 75311641 [A/G] rs7517746 1 75316587 [A/G] rs150336544 1 75317814 [T/C] rs80347758 1 75318045 [T/A] rs118077097 1 75322907 [G/C] rs142788855 1 75323991 [T/C] JHU_1.75325136 1 75325137 [G/C] rs79816001 1 75325180 [C/G] rs1409787 1 75332745 [T/C] 1:75334049-C-T 1 75334049 [T/C] rs17620301 1 75340281 [A/G] JHU_1.75340522 1 75340523 [A/G] 1:75341766-C-T 1 75341766 [T/C] JHU_1.75354695 1 75354696 [T/C] rs7367789 1 75357094 [A/G] rs6593547 1 75362429 [T/G] JHU_1.75363425 1 75363426 [T/G] rs79696701 1 75363713 [C/G] JHU_1.75363712 1 75363713 [C/G] JHU_1.75371734 1 75371735 [A/G] JHU_1.75377187 1 75377188 [T/C] JHU_1.75380726 1 75380727 [A/G] rs12569094 1 75380989 [T/G] rs139203270 1 75395031 [A/T] rs74771646 1 75401451 [T/C] JHU_1.75402840 1 75402841 [T/G] rs10782637 1 75403587 [A/C] JHU_1.75403986 1 75403987 [T/C] JHU_1.75406454 1 75406455 [T/C] rs1932089 1 75406876 [T/C] JHU_1.75423054 1 75423055 [T/G] JHU_1.75424692 1 75424693 [T/A] 1:75433650-G-A 1 75433650 [A/G] JHU_1.75437768 1 75437769 [A/T] rs144417311 1 75439888 [A/C] rs3845358 1 75449592 [A/C] rs147434738 1 75450888 [A/G] rs3856036 1 75464592 [A/C] rs142127687 1 75471832 [A/G] rs12081831 1 75471898 [T/C] rs795576 1 75473978 [T/C] rs76811015 1 75475494 [T/G] rs115482236 1 75477179 [A/G] rs12089365 1 75486214 [A/G] JHU_1.75486419 1 75486420 [A/G] rs77587110 1 75487168 [T/C] rs7531164 1 75488437 [A/C] JHU_1.75492006 1 75492007 [T/C] JHU_1.75492346 1 75492347 [A/G] rs150327458 1 75499051 [A/G] rs1581586 1 75502014 [A/C] rs74388553 1 75510483 [T/A] rs368581038 1 75521902 [T/G] JHU_1.75538460 1 75538461 [A/T] rs76887194 1 75546626 [T/C] rs7541725 1 75549806 [T/C] rs432933 1 75551252 [A/C] rs183459958 1 75565832 [A/C] rs17564357 1 75580825 [A/G] JHU_1.75581218 1 75581219 [A/C] JHU_1.75587974 1 75587975 [C/G] rs17622436 1 75589581 [A/C] rs74677977 1 75593346 [A/G] rs11162567 1 75593875 [A/G] exm1893991 1 75596410 [T/C] NM_001001933 LHX8 EXON Missense_L4P rs12565272 1 75598070 [A/C] NM_001001933 LHX8 Silent JHU_1.75598473 1 75598474 [T/A] NM_001001933 LHX8 Silent JHU_1.75601144 1 75601145 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 Silent,Silent JHU_1.75601192 1 75601193 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 Silent,Silent exm69065 1 75602300 [A/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_M11L,Missense_M1L exm69072 1 75602801 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_A41V,Missense_A31V rs151204122 1 75613332 [T/A] NM_001001933,NM_001256114 LHX8,LHX8 Silent,Silent JHU_1.75617272 1 75617273 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 Silent,Silent JHU_1.75621230 1 75621231 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 Silent,Silent JHU_1.75621761 1 75621762 [A/G] NM_001001933,NM_001256114 LHX8,LHX8 Silent,Silent rs187030741 1 75622052 [A/G] NM_001001933,NM_001256114 LHX8,LHX8 Silent,Silent exm69095 1 75622662 [A/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_P299T,Missense_P289T exm69103 1 75622741 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_A325V,Missense_A315V rs34889650 1 75622741 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 EXON Missense_A325V,Missense_A315V JHU_1.75624047 1 75624048 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 Silent,Silent rs1405308 1 75624465 [T/C] NM_001001933,NM_001256114 LHX8,LHX8 Silent,Silent rs140511711 1 75626413 [A/G] NM_001001933,NM_001256114 LHX8,LHX8 Silent,Silent rs78161506 1 75629102 [A/G] JHU_1.75629985 1 75629986 [A/C] rs78512877 1 75632544 [A/G] rs12117429 1 75633642 [T/G] rs77039756 1 75634912 [T/C] rs149497423 1 75636845 [C/G] JHU_1.75637648 1 75637649 [T/C] rs6593568 1 75637919 [A/G] rs78751138 1 75640114 [T/C] rs35366335 1 75646402 [T/G] JHU_1.75654560 1 75654561 [A/T] rs140805709 1 75660153 [T/G] rs78800113 1 75660163 [T/G] rs11162738 1 75665476 [T/C] variant.4294 1 75669417 [A/G] NM_001130058,NM_001320287,NM_001320285 SLC44A5,SLC44A5,SLC44A5 EXON Nonsense_Q717X,Nonsense_Q675X,Nonsense_Q675X rs61796521 1 75669893 [A/G] NM_001130058,NM_001320287,NM_001320285 SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent 1:75672357-CT 1 75672357 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Silent,Silent,Silent,Missense_V693I,Missense_V699I newrs143081523 1 75672405 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent variant.4296 1 75679385 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs78929216 1 75679496 [T/A] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent variant.4297 1 75683551 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_R542C,Missense_R500C,Missense_R500C,Missense_R536C,Missense_R542C exm69127 1 75684184 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_R507Q,Missense_R465Q,Missense_R465Q,Missense_R501Q,Missense_R507Q chr1_75684254 1 75684254 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_A484T,Missense_A442T,Missense_A442T,Missense_A478T,Missense_A484T 1:75684979-CT 1 75684979 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_G410E,Missense_G368E,Missense_G368E,Missense_G404E,Missense_G410E exm69142 1 75685576 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_A363T,Missense_A321T,Missense_A321T,Missense_A357T,Missense_A363T rs627494 1 75686746 [T/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75687644 1 75687645 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent 1:75688101-TG 1 75688101 [T/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_I344L,Missense_I302L,Missense_I302L,Missense_I338L,Missense_I344L exm69153 1 75693501 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_R299C,Missense_R257C,Missense_R257C,Missense_R293C,Missense_R299C JHU_1.75697819 1 75697820 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75698156 1 75698157 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75698162 1 75698163 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent 1:75699686-CA 1 75699686 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Nonsense_G280X,Nonsense_G238X,Nonsense_G238X,Nonsense_G274X,Nonsense_G280X rs10493565 1 75699771 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Synonymous_I251I,Synonymous_I209I,Synonymous_I209I,Synonymous_I245I,Synonymous_I251I 1:75699784-CA 1 75699784 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75700631 1 75700632 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent variant.4298 1 75702672 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_I247T,Missense_I205T,Missense_I205T,Missense_I241T,Missense_I247T 1:75702736-CA 1 75702736 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_D226Y,Missense_D184Y,Missense_D184Y,Missense_D220Y,Missense_D226Y JHU_1.75708528 1 75708529 [A/T] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm69173 1 75708628 [C/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_D138E,Missense_D96E,Missense_D96E,Missense_D132E,Missense_D138E rs649352 1 75714554 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm2253106 1 75716925 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Synonymous_V105V,Synonymous_V63V,Synonymous_V63V,Synonymous_V99V,Synonymous_V105V 1:75716927-CT 1 75716927 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_V105M,Missense_V63M,Missense_V63M,Missense_V99M,Missense_V105M rs142569403 1 75721164 [A/T] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs147767682 1 75722395 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs604745 1 75722527 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs78646051 1 75735152 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs601788 1 75742038 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs588830 1 75742561 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75757709 1 75757710 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75759998 1 75759999 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs671919 1 75763491 [T/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs623850 1 75766186 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent 1:75766323-AG 1 75766323 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_I50T,Missense_I8T,Missense_I8T,Missense_I44T,Missense_I50T JHU_1.75769998 1 75769999 [T/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1249675 1 75770625 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75773161 1 75773162 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs56212906 1 75776173 [T/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1249670 1 75778858 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs12127347 1 75779404 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1249667 1 75779988 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75780046 1 75780047 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs140778568 1 75783252 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent 1:75783703-G-T 1 75783703 [T/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs114939251 1 75784921 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm2268902 1 75785718 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75787142 1 75787143 [G/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent 1:75791151-C-G 1 75791151 [C/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs114525953 1 75793897 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs2657206 1 75794538 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs114063058 1 75795425 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75796663 1 75796664 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs140169453 1 75799945 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm1894957 1 75805301 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_Y23H,Silent,Silent,Missense_Y17H,Missense_Y23H rs1700909 1 75806045 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs145032310 1 75812423 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm2264859 1 75818341 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1249837 1 75819102 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs7522308 1 75820793 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75828403 1 75828404 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75828562 1 75828563 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1249849 1 75830438 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs116551868 1 75832267 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75834337 1 75834338 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1249810 1 75834454 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75837235 1 75837236 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs78795557 1 75837373 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs143204843 1 75837389 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs2137407 1 75838923 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75838922 1 75838923 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs114169947 1 75841039 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs2175617 1 75841147 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs2347215 1 75841403 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs142584172 1 75859147 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent newrs79353172 1 75862263 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm69196 1 75862292 [T/A] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 EXON Missense_T10S,Silent,Silent,Silent,Missense_T10S rs1249813 1 75862526 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs79151517 1 75864408 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1036950 1 75866662 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75867354 1 75867355 [T/A] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs144593806 1 75870147 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75875108 1 75875109 [A/T] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1249794 1 75876192 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75876233 1 75876234 [T/A] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75880042 1 75880043 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75880597 1 75880598 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75884699 1 75884700 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75888920 1 75888921 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs184731939 1 75900083 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs139267744 1 75901410 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs116747324 1 75910530 [G/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75911247 1 75911248 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs80293972 1 75911604 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs2587031 1 75911769 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent exm-rs1857353 1 75913826 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75915701 1 75915702 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs6676696 1 75917304 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs72986751 1 75918140 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75935142 1 75935143 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs10874305 1 75937429 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs80023201 1 75938114 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75938228 1 75938229 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75938234 1 75938235 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1889037 1 75938694 [C/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs11163461 1 75941966 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75949030 1 75949031 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs78804676 1 75955707 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs72684147 1 75962262 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs12738260 1 75966345 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs13373826 1 75970795 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs6658825 1 75974819 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1571983 1 75982426 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs74326682 1 75984215 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75993107 1 75993108 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs77983810 1 75993228 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.75994530 1 75994531 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent 1:75996626-A-G 1 75996626 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs184159 1 75998695 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs118157088 1 76018696 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs79557041 1 76019331 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs6670304 1 76023350 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs211699 1 76025003 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs115029880 1 76025899 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.76032669 1 76032670 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs211762 1 76032904 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.76033728 1 76033729 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs2748446 1 76034363 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs11578532 1 76038320 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1303877 1 76042738 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs4596832 1 76048510 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs211678 1 76049126 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs10874383 1 76049540 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.76051940 1 76051941 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.76054435 1 76054436 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs56220850 1 76054436 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.76054767 1 76054768 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs396106 1 76055098 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.76061885 1 76061886 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs6662665 1 76068279 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.76070451 1 76070452 [A/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.76074479 1 76074480 [A/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs1998547 1 76075556 [C/G] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent JHU_1.76075860 1 76075861 [T/C] NM_001130058,NM_001320287,NM_001320285,NM_001320283,NM_152697 SLC44A5,SLC44A5,SLC44A5,SLC44A5,SLC44A5 Silent,Silent,Silent,Silent,Silent rs145352747 1 76077098 [T/C] NM_001320283 SLC44A5 Silent rs6593584 1 76080162 [A/G] NM_001320283 SLC44A5 Silent rs7355133 1 76080298 [A/G] NM_001320283 SLC44A5 Silent rs112356533 1 76081089 [A/C] NM_001320283 SLC44A5 Silent rs76596883 1 76085526 [T/C] rs6675067 1 76088392 [A/C] JHU_1.76088964 1 76088965 [T/A] rs17097106 1 76092180 [T/C] rs145142194 1 76093301 [A/G] JHU_1.76094670 1 76094671 [T/C] rs116053422 1 76094938 [A/T] rs74816010 1 76095388 [T/C] JHU_1.76095837 1 76095838 [T/C] rs144797050 1 76096685 [G/C] rs814860 1 76098480 [T/C] JHU_1.76098630 1 76098631 [T/G] JHU_1.76101493 1 76101494 [A/G] rs12145550 1 76103757 [T/C] JHU_1.76106533 1 76106534 [T/C] rs211718 1 76106675 [T/C] exm-rs211718 1 76106675 [T/C] JHU_1.76106968 1 76106969 [A/G] 1:76112133-T-C 1 76112133 [T/C] rs11163894 1 76114357 [G/C] JHU_1.76115217 1 76115218 [T/C] rs1739897 1 76116062 [T/A] JHU_1.76119840 1 76119841 [A/G] rs440826 1 76120300 [T/C] rs74088967 1 76122121 [T/C] JHU_1.76123781 1 76123782 [T/C] JHU_1.76127095 1 76127096 [A/C] JHU_1.76130622 1 76130623 [A/G] rs118041896 1 76133779 [T/C] rs814854 1 76133823 [A/G] rs115557540 1 76135849 [T/C] rs7552404 1 76135946 [A/G] rs11163938 1 76137419 [G/C] 1:76143427-CA 1 76143427 [A/C] 1:76152916-C-T 1 76152916 [T/C] rs4949874 1 76161889 [T/C] rs11164042 1 76178440 [A/G] rs150580463 1 76180375 [T/G] rs115042041 1 76184898 [G/C] rs6677156 1 76187781 [A/C] JHU_1.76189097 1 76189098 [A/G] rs11809592 1 76189357 [T/A] rs1251079 1 76189445 [T/C] 1:76190504-TG 1 76190504 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent Variant48601 1 76190506 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent JHU_1.76190926 1 76190927 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent rs149380211 1 76193160 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent rs142795930 1 76194013 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent Variant48602 1 76194140 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Silent,Silent,Nonsense_R33X,Nonsense_R29X,Nonsense_R29X ilmnseq_rs875989875 1 76194161 [D/I] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON rs1250878 1 76196313 [C/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent JHU_1.76196312 1 76196313 [C/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent rs1250880 1 76196602 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent JHU_1.76196990 1 76196991 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent 1:76197583-G-T 1 76197583 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent exm69215 1 76198337 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_E7K,Silent,Missense_E47K,Missense_E43K,Missense_E43K rs147559466 1 76198337 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_E7K,Silent,Missense_E47K,Missense_E43K,Missense_E43K Variant48604 1 76198344 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_Q9R,Silent,Missense_Q49R,Missense_Q45R,Missense_Q45R seq-rs398123072 1 76198367 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_R17C,Silent,Missense_R57C,Missense_R53C,Missense_R53C Variant48605 1 76198367 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_R17C,Silent,Missense_R57C,Missense_R53C,Missense_R53C 1:76198377-CT 1 76198377 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_A20V,Silent,Missense_A60V,Missense_A56V,Missense_A56V rs121434280 1 76198409 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_Y31H,Silent,Missense_Y71H,Missense_Y67H,Missense_Y67H exm69219 1 76198409 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_Y31H,Silent,Missense_Y71H,Missense_Y67H,Missense_Y67H seq-rs398123073 1 76198428 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent Variant48606 1 76198431 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent seq-rs398123074 1 76198554 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_I42T,Silent,Missense_I82T,Missense_I78T,Missense_I78T Variant48607 1 76198554 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_I42T,Silent,Missense_I82T,Missense_I78T,Missense_I78T Variant2117 1 76198564 [I/D] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON ilmnseq_rs786204566 1 76198565 [I/D] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Variant48608 1 76198571 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_L48F,Silent,Missense_L88F,Missense_L84F,Missense_L84F IlmnSeq_rs762114560 1 76198571 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_L48F,Silent,Missense_L88F,Missense_L84F,Missense_L84F variant.4303 1 76198596 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_P56L,Silent,Missense_P96L,Missense_P92L,Missense_P92L variant.4304 1 76198734 [A/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent 1:76198765-TC 1 76198765 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Silent,Silent,Silent,Missense_C106R,Silent rs41291508 1 76198990 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent seq-rs794727694 1 76199212 [C/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent seq-rs796051898 1 76199215 [C/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G61R,Silent,Missense_G101R,Missense_G130R,Missense_G97R seq-rs796051899 1 76199243 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_C70Y,Silent,Missense_C110Y,Missense_C139Y,Missense_C106Y Variant48610 1 76199246 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_L71S,Silent,Missense_L111S,Missense_L140S,Missense_L107S seq-rs796051900 1 76199255 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_E74G,Silent,Missense_E114G,Missense_E143G,Missense_E110G exm2253134 1 76199277 [A/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Synonymous_T81T,Silent,Synonymous_T121T,Synonymous_T150T,Synonymous_T117T rs121434283 1 76199288 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_T85I,Silent,Missense_T125I,Missense_T154I,Missense_T121I ilmnseq_rs121434283 1 76199288 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_T85I,Silent,Missense_T125I,Missense_T154I,Missense_T121I Variant15920 1 76199310 [D/I] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON seq-rs778906552 1 76200531 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_R112K,Silent,Missense_R152K,Missense_R181K,Missense_R148K rs121434277 1 76200535 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_M113I,Silent,Missense_M153I,Missense_M182I,Missense_M149I 1:76200535-G-A 1 76200535 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_M113I,Silent,Missense_M153I,Missense_M182I,Missense_M149I ilmnseq_rs786204642 1 76200537 [D/I] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON JHU_1.76202137 1 76202138 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent rs141926770 1 76205133 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent ilmnseq_rs745844469 1 76205699 [A/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_D132A,Silent,Missense_D172A,Missense_D201A,Missense_D168A rs200754053 1 76205722 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_A140S,Silent,Missense_A180S,Missense_A209S,Missense_A176S exm69239 1 76205722 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_A140S,Silent,Missense_A180S,Missense_A209S,Missense_A176S ilmnseq_rs754359356 1 76205754 [A/T] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_N150K,Silent,Missense_N190K,Missense_N219K,Missense_N186K 1:76205773-A-G 1 76205773 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_T157A,Missense_T4A,Missense_T197A,Missense_T226A,Missense_T193A Variant48612 1 76205776 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_N158D,Missense_N5D,Missense_N198D,Missense_N227D,Missense_N194D 1:76205779-G-A 1 76205779 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G159R,Missense_G6R,Missense_G199R,Missense_G228R,Missense_G195R rs121434278 1 76205779 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G159R,Missense_G6R,Missense_G199R,Missense_G228R,Missense_G195R ilmnseq_rs866388216 1 76205796 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent var_1_76205796 1 76205796 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent newrs148260275 1 76205797 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent rs191886432 1 76208907 [A/T] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016,NR_130749 ACADM,ACADM,ACADM,ACADM,ACADM,DLSTP1 EXON Silent,Silent,Silent,Silent,Silent,Silent rs370523609 1 76211473 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent rs373715782 1 76211507 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_R170C,Missense_R17C,Missense_R210C,Missense_R239C,Missense_R206C variant.4311 1 76211507 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_R170C,Missense_R17C,Missense_R210C,Missense_R239C,Missense_R206C rs200724875 1 76211508 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_R170H,Missense_R17H,Missense_R210H,Missense_R239H,Missense_R206H exm69249 1 76211557 [A/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_F186L,Missense_F33L,Missense_F226L,Missense_F255L,Missense_F222L rs2229249 1 76211569 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Synonymous_A190A,Synonymous_A37A,Synonymous_A230A,Synonymous_A259A,Synonymous_A226A newrs149678400 1 76211574 [A/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_T192N,Missense_T39N,Missense_T232N,Missense_T261N,Missense_T228N rs149678400 1 76211574 [A/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_T192N,Missense_T39N,Missense_T232N,Missense_T261N,Missense_T228N Variant48617 1 76211589 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_I197T,Missense_I44T,Missense_I237T,Missense_I266T,Missense_I233T rs1146581 1 76213024 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent exm69252 1 76215192 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_D230G,Missense_D77G,Missense_D270G,Missense_D299G,Missense_D266G rs201375579 1 76215192 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_D230G,Missense_D77G,Missense_D270G,Missense_D299G,Missense_D266G ilmnseq_rs121434274 1 76215194 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G231R,Missense_G78R,Missense_G271R,Missense_G300R,Missense_G267R rs121434274 1 76215194 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G231R,Missense_G78R,Missense_G271R,Missense_G300R,Missense_G267R exm69254 1 76215194 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G231R,Missense_G78R,Missense_G271R,Missense_G300R,Missense_G267R ilmnseq_rs875989872 1 76215212 [D/I] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Variant48621 1 76215215 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_M238V,Missense_M85V,Missense_M278V,Missense_M307V,Missense_M274V 1:76215237-G-C 1 76215237 [C/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_R245T,Missense_R92T,Missense_R285T,Missense_R314T,Missense_R281T var_1_76215242 1 76215242 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_V247I,Missense_V94I,Missense_V287I,Missense_V316I,Missense_V283I Variant48623 1 76216134 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent seq-rs796051901 1 76216166 [I/D] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON ilmnseq_rs779759347 1 76216167 [C/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_R258T,Missense_R105T,Missense_R298T,Missense_R327T,Missense_R294T 1:76216194-CT 1 76216194 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_A267V,Missense_A114V,Missense_A307V,Missense_A336V,Missense_A303V seq-rs747593459 1 76216212 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_F273C,Missense_F120C,Missense_F313C,Missense_F342C,Missense_F309C ilmnseq_rs747268471 1 76216214 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G274R,Missense_G121R,Missense_G314R,Missense_G343R,Missense_G310R Variant48624 1 76216214 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G274R,Missense_G121R,Missense_G314R,Missense_G343R,Missense_G310R rs11161521 1 76216330 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent rs80343164 1 76217546 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent JHU_1.76225344 1 76225345 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent Variant48625 1 76226805 [A/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent indel.4318 1 76226845 [D/I] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON ilmnseq_rs77931234_ilmndup2 1 76226846 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_K293E,Missense_K140E,Missense_K333E,Missense_K362E,Missense_K329E ilmnseq_rs77931234 1 76226846 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_K293E,Missense_K140E,Missense_K333E,Missense_K362E,Missense_K329E ilmnseq_rs77931234_ilmndup1 1 76226846 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_K293E,Missense_K140E,Missense_K333E,Missense_K362E,Missense_K329E rs77931234 1 76226846 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_K293E,Missense_K140E,Missense_K333E,Missense_K362E,Missense_K329E ilmnseq_rs77931234_ilmndup3 1 76226846 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_K293E,Missense_K140E,Missense_K333E,Missense_K362E,Missense_K329E exm69261 1 76226846 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_K293E,Missense_K140E,Missense_K333E,Missense_K362E,Missense_K329E rs138098371 1 76226855 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Synonymous_L296L,Synonymous_L143L,Synonymous_L336L,Synonymous_L365L,Synonymous_L332L ilmnseq_rs786204522 1 76226859 [I/D] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON rs148207467 1 76226906 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Nonsense_R313X,Nonsense_R160X,Nonsense_R353X,Nonsense_R382X,Nonsense_R349X newrs148207467 1 76226906 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Nonsense_R313X,Nonsense_R160X,Nonsense_R353X,Nonsense_R382X,Nonsense_R349X newrs150310121 1 76226946 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G326E,Missense_G173E,Missense_G366E,Missense_G395E,Missense_G362E rs150310121 1 76226946 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_G326E,Missense_G173E,Missense_G366E,Missense_G395E,Missense_G362E exm69265 1 76226952 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_I328T,Missense_I175T,Missense_I368T,Missense_I397T,Missense_I364T seq-rs387906297 1 76226963 [I/D] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON ilmnseq_rs387906297 1 76226963 [I/D] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON 1:76226985-T-C 1 76226985 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Missense_I339T,Missense_I186T,Missense_I379T,Missense_I408T,Missense_I375T Variant48629 1 76227011 [T/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Nonsense_E348X,Nonsense_E195X,Nonsense_E388X,Nonsense_E417X,Nonsense_E384X rs1061337 1 76227022 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Synonymous_V351V,Synonymous_V198V,Synonymous_V391V,Synonymous_V420V,Synonymous_V387V Variant2118 1 76227049 [I/D] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Variant48631 1 76227056 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent 1:76227066-AG 1 76227066 [A/G] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM Silent,Silent,Silent,Silent,Silent rs143911981 1 76228525 [T/C] NM_001286042,NM_001286044,NM_001127328,NM_001286043,NM_000016 ACADM,ACADM,ACADM,ACADM,ACADM EXON Silent,Silent,Silent,Silent,Silent rs28602663 1 76235355 [T/C] rs11161602 1 76244382 [T/C] rs140600540 1 76250108 [T/C] variant.4324 1 76251964 [T/G] NM_004582,NR_073562 RABGGTB,RABGGTB Silent,Silent rs1146634 1 76252011 [A/G] NM_004582,NR_073562 RABGGTB,RABGGTB Silent,Silent JHU_1.76252681 1 76252682 [T/G] NM_004582,NR_073562 RABGGTB,RABGGTB Silent,Silent exm2253141 1 76253229 [T/A] NM_004582,NR_073562 RABGGTB,RABGGTB EXON Synonymous_T17T,Silent rs148054996 1 76255565 [A/G] NM_004582,NR_073562 RABGGTB,RABGGTB Silent,Silent 1:76255700-GT 1 76255700 [T/G] NM_004582,NR_073562 RABGGTB,RABGGTB EXON Missense_G125C,Silent indel.4325 1 76255707 [I/D] NM_004582,NR_073562 RABGGTB,RABGGTB EXON rs7534288 1 76257488 [T/C] NM_004582,NR_073562 RABGGTB,RABGGTB Silent,Silent exm69311 1 76257984 [T/C] NM_004582,NR_073562 RABGGTB,RABGGTB EXON Missense_P233L,Silent exm69323 1 76260335 [G/C] NM_004582,NR_073562 RABGGTB,RABGGTB EXON Missense_X332Y,Silent JHU_1.76260894 1 76260895 [A/T] exm69332 1 76262773 [A/C] NM_002440 MSH4 EXON Missense_L35I exm69338 1 76262885 [A/G] NM_002440 MSH4 EXON Missense_C72Y rs76280907 1 76266166 [T/A] NM_002440 MSH4 Silent exm69344 1 76269439 [A/G] NM_002440 MSH4 EXON Missense_A90T exm69345 1 76269451 [A/G] NM_002440 MSH4 EXON Missense_N94D exm69346 1 76269460 [A/G] NM_002440 MSH4 EXON Missense_A97T rs5745325 1 76269460 [A/G] NM_002440 MSH4 EXON Missense_A97T 1:76269574-TC 1 76269574 [T/C] NM_002440 MSH4 EXON Missense_W135R exm69350 1 76272666 [T/C] NM_002440 MSH4 EXON Missense_A143V exm69351 1 76272681 [T/C] NM_002440 MSH4 EXON Missense_A148V exm69354 1 76272778 [A/C] NM_002440 MSH4 EXON Missense_N180K variant.4330 1 76272831 [A/G] NM_002440 MSH4 Silent rs5745332 1 76273342 [T/C] NM_002440 MSH4 Silent rs5745343 1 76273805 [T/C] NM_002440 MSH4 Silent JHU_1.76275041 1 76275042 [T/C] NM_002440 MSH4 Silent rs1144333 1 76275100 [A/G] NM_002440 MSH4 Silent 1:76278048-T-C 1 76278048 [T/C] NM_002440 MSH4 Silent JHU_1.76278593 1 76278594 [T/C] NM_002440 MSH4 Silent JHU_1.76278915 1 76278916 [A/G] NM_002440 MSH4 Silent 1:76280770-AC 1 76280770 [A/C] NM_002440 MSH4 EXON Missense_E255A rs12024645 1 76284395 [A/G] NM_002440 MSH4 Silent exm69371 1 76288152 [T/C] NM_002440 MSH4 EXON Nonsense_R350X rs116141807 1 76288167 [A/G] NM_002440 MSH4 EXON Missense_I355V 1:76288167-AG 1 76288167 [A/G] NM_002440 MSH4 EXON Missense_I355V exm69372 1 76288193 [A/T] NM_002440 MSH4 EXON Missense_E363D rs1251272 1 76289004 [T/C] NM_002440 MSH4 Silent rs17648749 1 76301628 [A/G] NM_002440 MSH4 Silent rs79908297 1 76303878 [C/G] NM_002440 MSH4 Silent JHU_1.76306696 1 76306697 [A/C] NM_002440 MSH4 Silent JHU_1.76312947 1 76312948 [T/C] NM_002440 MSH4 Silent JHU_1.76313124 1 76313125 [A/T] NM_002440 MSH4 Silent 1:76313960-CT 1 76313960 [T/C] NM_002440 MSH4 EXON Missense_T410M rs41291514 1 76314000 [A/G] NM_002440 MSH4 Silent JHU_1.76316904 1 76316905 [T/G] NM_002440 MSH4 Silent rs2172507 1 76331320 [T/C] NM_002440 MSH4 Silent exm69391 1 76343943 [A/G] NM_002440 MSH4 EXON Missense_I494V exm69392 1 76343945 [A/G] NM_002440 MSH4 EXON Missense_I494M JHU_1.76344113 1 76344114 [T/C] NM_002440 MSH4 Silent 1:76345739-CT 1 76345739 [T/C] NM_002440 MSH4 EXON Missense_S561F 1:76345741-TA-T 1 76345741 [I/D] NM_002440 MSH4 EXON exm69401 1 76345823 [A/G] NM_002440 MSH4 EXON Missense_Y589C exm2233822 1 76345825 [C/G] NM_002440 MSH4 EXON Missense_H590D 1:76346995-AG 1 76346995 [A/G] NM_002440 MSH4 EXON Missense_T616A indel.4337 1 76349332 [D/I] NM_002440 MSH4 EXON var_1_76349452 1 76349452 [T/G] NM_002440 MSH4 EXON Nonsense_G685X indel.4339 1 76349472 [D/I] NM_002440 MSH4 EXON rs5745486 1 76349716 [T/C] NM_002440 MSH4 Silent JHU_1.76349759 1 76349760 [A/G] NM_002440 MSH4 Silent rs5745490 1 76350020 [A/G] NM_002440 MSH4 Silent rs5745493 1 76350276 [A/C] NM_002440 MSH4 Silent JHU_1.76350768 1 76350769 [T/G] NM_002440 MSH4 Silent 1:76355016-GA 1 76355016 [A/G] NM_002440 MSH4 EXON Missense_E730K exm69419 1 76355026 [A/C] NM_002440 MSH4 EXON Nonsense_S733X rs1001160 1 76358591 [A/C] NM_002440 MSH4 Silent exm69428 1 76363707 [A/C] NM_002440 MSH4 EXON Missense_K824T rs138119949 1 76363728 [A/G] NM_002440 MSH4 EXON Missense_Y831C exm1897173 1 76363728 [A/G] NM_002440 MSH4 EXON Missense_Y831C exm69430 1 76363756 [G/C] NM_002440 MSH4 EXON Missense_E840D rs6687882 1 76364825 [A/C] NM_002440 MSH4 Silent 1:76365365-AG 1 76365365 [A/G] NM_002440 MSH4 EXON Missense_T865A JHU_1.76373486 1 76373487 [T/C] NM_002440 MSH4 Silent rs192618610 1 76375716 [A/G] NM_002440 MSH4 Silent 1:76378399-CT 1 76378399 [T/C] NM_002440 MSH4 EXON Missense_P880S exm69443 1 76378459 [T/C] NM_002440 MSH4 EXON Nonsense_R900X exm69444 1 76378502 [A/G] NM_002440 MSH4 EXON Missense_S914N rs75195195 1 76381704 [A/G] rs10782582 1 76383297 [A/G] exm1897247 1 76384659 [T/A] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_N289I exm69450 1 76384668 [T/C] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_R286H exm69453 1 76384785 [A/G] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_S247L exm2264860 1 76386305 [A/G] NR_026546,NM_080868 ASB17,ASB17 Silent,Silent rs191830921 1 76387142 [T/C] NR_026546,NM_080868 ASB17,ASB17 Silent,Silent exm69465 1 76388015 [A/G] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_P144L 1:76388026-GT 1 76388026 [T/G] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Nonsense_Y140X 1:76388036-GA 1 76388036 [A/G] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_T137I rs189940688 1 76390004 [T/C] NR_026546,NM_080868 ASB17,ASB17 Silent,Silent variant.4347 1 76397575 [A/C] NR_026546,NM_080868 ASB17,ASB17 Silent,Silent exm69468 1 76397581 [T/C] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_I132M 1:76397669-GA 1 76397669 [A/G] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_A103V indel.4348 1 76397780 [I/D] NR_026546,NM_080868 ASB17,ASB17 EXON 1:76397802-CT 1 76397802 [T/C] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_D59N exm69478 1 76397972 [T/C] NR_026546,NM_080868 ASB17,ASB17 EXON Silent,Missense_S2N rs6593520 1 76398305 [A/G] JHU_1.76399635 1 76399636 [T/C] JHU_1.76401348 1 76401349 [T/C] rs931506 1 76401349 [T/C] rs1770886 1 76402145 [A/G] JHU_1.76402683 1 76402684 [T/C] rs138818010 1 76414028 [A/G] rs374849656 1 76421832 [A/G] rs61770556 1 76421902 [T/C] JHU_1.76423302 1 76423303 [G/C] JHU_1.76429971 1 76429972 [T/C] rs143538808 1 76431670 [T/A] rs1251534 1 76432883 [A/C] JHU_1.76437670 1 76437671 [A/G] rs1251543 1 76441220 [T/C] rs17097780 1 76441522 [A/T] rs141737069 1 76441894 [T/G] JHU_1.76443195 1 76443196 [T/C] rs149581674 1 76445871 [T/C] JHU_1.76445922 1 76445923 [A/G] JHU_1.76446273 1 76446274 [T/A] rs12084383 1 76451288 [A/G] rs1770878 1 76456329 [T/C] rs139153073 1 76457920 [A/C] JHU_1.76458294 1 76458295 [T/C] JHU_1.76460644 1 76460645 [T/C] rs12091251 1 76461554 [A/G] rs4949685 1 76463270 [T/A] rs10782602 1 76464261 [T/C] rs79370269 1 76466849 [T/C] rs1251531 1 76469334 [A/G] rs117340195 1 76474098 [A/G] rs11162065 1 76474354 [T/C] rs12064158 1 76476034 [A/G] JHU_1.76476430 1 76476431 [T/C] JHU_1.76477182 1 76477183 [A/T] NR_125939 LOC101927342 Silent JHU_1.76477206 1 76477207 [A/C] NR_125939 LOC101927342 Silent JHU_1.76477259 1 76477260 [T/C] NR_125939 LOC101927342 Silent rs11162068 1 76478305 [T/C] NR_125939 LOC101927342 Silent rs946162 1 76478754 [A/G] NR_125939 LOC101927342 Silent JHU_1.76479277 1 76479278 [T/C] NR_125939 LOC101927342 Silent JHU_1.76482840 1 76482841 [A/G] NR_125939 LOC101927342 Silent exm-rs12753569 1 76484014 [T/G] NR_125939 LOC101927342 Silent rs6703034 1 76485783 [T/C] rs6672844 1 76486884 [A/G] rs10493578 1 76490234 [T/C] JHU_1.76491922 1 76491923 [T/C] rs58963591 1 76493178 [C/G] rs115862481 1 76496816 [T/C] rs1370714 1 76497033 [T/C] rs77862637 1 76497493 [T/C] rs11162070 1 76499313 [T/C] rs17097968 1 76501151 [A/G] rs1251484 1 76504146 [T/C] JHU_1.76506245 1 76506246 [T/G] rs17097991 1 76506666 [A/G] JHU_1.76510230 1 76510231 [T/C] rs1251477 1 76512316 [A/G] rs12039427 1 76512557 [A/G] rs1013629 1 76513759 [T/C] rs17098101 1 76514353 [A/G] rs1251496 1 76517127 [C/G] rs1251490 1 76518693 [T/C] JHU_1.76518838 1 76518839 [A/G] JHU_1.76518854 1 76518855 [T/C] 1:76518855-T-C 1 76518855 [T/C] rs77175064 1 76520935 [T/G] rs79894644 1 76527534 [T/C] rs10493581 1 76529240 [A/C] rs1417407 1 76530309 [G/C] JHU_1.76531942 1 76531943 [A/G] JHU_1.76532776 1 76532777 [T/G] rs1251472 1 76532848 [A/C] rs11800149 1 76534883 [A/G] rs1146657 1 76535407 [C/G] JHU_1.76536314 1 76536315 [T/C] rs1251467 1 76536649 [T/C] rs77379054 1 76539092 [A/G] rs137928466 1 76540306 [A/G] 1:76540569-GT 1 76540569 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_K6N,Silent,Missense_K6N,Missense_K6N,Silent,Missense_K6N,Missense_K6N,Missense_K6N,Missense_K6N rs72988548 1 76541329 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11585383 1 76548672 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12127822 1 76549556 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1251578 1 76550721 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76551439 1 76551440 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76551440 1 76551441 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1144346 1 76552475 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs289692 1 76556292 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10493582 1 76557050 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1251575 1 76557784 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72990771 1 76560834 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76565261 1 76565262 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76568792 1 76568793 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76568793 1 76568794 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs289679 1 76569151 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10493583 1 76570926 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76573897 1 76573898 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76574577 1 76574578 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17098119 1 76585643 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162084 1 76589102 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17098132 1 76592631 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs289697 1 76598209 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77308298 1 76599103 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12140157 1 76600495 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75230544 1 76601080 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162086 1 76601214 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75764571 1 76602142 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs915403 1 76602605 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17610851 1 76605744 [G/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76608350 1 76608351 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs289686 1 76608491 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76608690 1 76608691 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76609110 1 76609111 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76609505 1 76609506 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4245647 1 76610257 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs418644 1 76610397 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76611431 1 76611432 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12736289 1 76611569 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2992502 1 76611703 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2706195 1 76612658 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs518915 1 76615729 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76618161 1 76618162 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76622229 1 76622230 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76622285 1 76622286 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79441845 1 76624277 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17098221 1 76624396 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76625315 1 76625316 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1414406 1 76628659 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76629651 1 76629652 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:76637501-C-A 1 76637501 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74785783 1 76640741 [G/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162094 1 76645080 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76646750 1 76646751 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76647305 1 76647306 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76649558 1 76649559 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949697 1 76652957 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72674481 1 76653470 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79504245 1 76656045 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76656465 1 76656466 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs923246 1 76658460 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76659544 1 76659545 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76664693 1 76664694 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs59542062 1 76670880 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12064344 1 76676058 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76678902 1 76678903 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs517036 1 76680525 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs565352 1 76681265 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1486931 1 76686415 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76687150 1 76687151 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs67757470 1 76687403 [G/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs531773 1 76692057 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115249105 1 76692617 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17098418 1 76695328 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76696869 1 76696870 [A/T] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs573657 1 76697767 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs490570 1 76700571 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12074693 1 76703874 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12088871 1 76704111 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17098469 1 76704946 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs472536 1 76714019 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs112797029 1 76714427 [C/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76716903 1 76716904 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77057416 1 76717575 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75920775 1 76718705 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs536811 1 76719571 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs522935 1 76719794 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72675952 1 76720411 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs56003674 1 76723590 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72675955 1 76723933 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74092738 1 76728002 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76728119 1 76728120 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116409134 1 76728135 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76729817 1 76729818 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6696780 1 76731907 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17098502 1 76732364 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949624 1 76732617 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76738275 1 76738276 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76738453 1 76738454 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162107 1 76738725 [A/T] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76739044 1 76739045 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6695042 1 76739856 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76743214 1 76743215 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76743886 1 76743887 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162112 1 76745026 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12131613 1 76746406 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17098538 1 76746909 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76747973 1 76747974 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162113 1 76749527 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76749778 1 76749779 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1537783 1 76752116 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6672694 1 76752500 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76753089 1 76753090 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949626 1 76755492 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76756470 1 76756471 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6700436 1 76763178 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76769940 1 76769941 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6701166 1 76771114 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs61771468 1 76771169 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs10873876 1 76772328 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76772370 1 76772371 [C/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76772375 1 76772376 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4511169 1 76772996 [G/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76773439 1 76773440 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76773887 1 76773888 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3884182 1 76774201 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs78175381 1 76774432 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76774463 1 76774464 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76774464 1 76774465 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs61076126 1 76774616 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76774705 1 76774706 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76775245 1 76775246 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Silent,Silent,Silent,Silent,Missense_M1I,Silent,Silent,Silent,Silent rs6681765 1 76777065 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.4350 1 76779506 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_A12V,Silent,Missense_A12V,Missense_A12V,Missense_A24V,Silent,Missense_A12V,Missense_A12V,Silent rs10873878 1 76779877 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76782874 1 76782875 [C/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76783591 1 76783592 [G/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12406797 1 76783757 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs73002492 1 76783913 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9437421 1 76786084 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76786256 1 76786257 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72675975 1 76787333 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:76792027-G-C 1 76792027 [G/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76196295 1 76794903 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72675982 1 76795234 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10493591 1 76796785 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4408196 1 76798359 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79664725 1 76802060 [A/T] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs190461573 1 76807029 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12145584 1 76811693 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs942699 1 76820435 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76823478 1 76823479 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75573942 1 76823680 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4638174 1 76824240 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1002784 1 76824595 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs148241009 1 76825612 [A/T] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7524886 1 76826279 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12737993 1 76826830 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34386885 1 76831475 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12071740 1 76832860 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12032409 1 76833594 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12128122 1 76834705 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs143058325 1 76834777 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12239582 1 76837237 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76837542 1 76837543 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs140570358 1 76840246 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7339997 1 76840373 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76841607 1 76841608 [C/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6688662 1 76842133 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76846501 1 76846502 [A/T] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76846872 1 76846873 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76852096 1 76852097 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1925359 1 76852740 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs192866336 1 76854228 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76854696 1 76854697 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76855192 1 76855193 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76856094 1 76856095 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76856105 1 76856106 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2392034 1 76863886 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76865177 1 76865178 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12069514 1 76865242 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79944340 1 76866742 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2209460 1 76867234 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76867966 1 76867967 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74679582 1 76868254 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs73006128 1 76868614 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162148 1 76870699 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2268708 1 76870939 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116567176 1 76871194 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17098937 1 76873682 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76874957 1 76874958 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76875615 1 76875616 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:76877721-CT 1 76877721 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_A81V,Silent,Missense_A81V,Missense_A81V,Missense_A93V,Missense_A16V,Missense_A81V,Missense_A81V,Missense_A16V exm69499 1 76877767 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_N96K,Missense_N8K,Missense_N96K,Missense_N96K,Missense_N108K,Missense_N31K,Missense_N96K,Missense_N96K,Missense_N31K variant.4352 1 76877777 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Nonsense_R100X,Nonsense_R12X,Nonsense_R100X,Nonsense_R100X,Nonsense_R112X,Nonsense_R35X,Nonsense_R100X,Nonsense_R100X,Nonsense_R35X exm69507 1 76877896 [C/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_N139K,Missense_N51K,Missense_N139K,Missense_N139K,Missense_N151K,Missense_N74K,Missense_N139K,Missense_N139K,Missense_N74K exm69509 1 76877954 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_R159C,Missense_R71C,Missense_R159C,Missense_R159C,Missense_R171C,Missense_R94C,Missense_R159C,Missense_R159C,Missense_R94C rs143753940 1 76877954 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_R159C,Missense_R71C,Missense_R159C,Missense_R159C,Missense_R171C,Missense_R94C,Missense_R159C,Missense_R159C,Missense_R94C exm69512 1 76878014 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_I179V,Missense_I91V,Missense_I179V,Missense_I179V,Missense_I191V,Missense_I114V,Missense_I179V,Missense_I179V,Missense_I114V rs17098942 1 76878156 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs56302631 1 76878266 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2392038 1 76879210 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs145186401 1 76879585 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76882311 1 76882312 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs73006134 1 76884576 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76886375 1 76886376 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7529530 1 76890999 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs113032389 1 76892015 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs61771525 1 76892302 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76895625 1 76895626 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4565767 1 76895773 [G/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76897487 1 76897488 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34130960 1 76898568 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6688867 1 76898576 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949631 1 76898955 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949718 1 76899464 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76899555 1 76899556 [A/T] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11581788 1 76903258 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77251022 1 76906133 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12742405 1 76907906 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76908761 1 76908762 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76909497 1 76909498 [G/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7546379 1 76910399 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76911612 1 76911613 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116492170 1 76911998 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76920935 1 76920936 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7413797 1 76927674 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7544496 1 76931051 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs35592911 1 76932193 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7550651 1 76933000 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6691403 1 76934790 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75632436 1 76937349 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2265019 1 76939676 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76944729 1 76944730 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs140384596 1 76944832 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12075814 1 76945339 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79853887 1 76946451 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7520183 1 76954964 [G/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75904310 1 76959491 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76960244 1 76960245 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs55671395 1 76961717 [C/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10873889 1 76961960 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4620587 1 76964693 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74089977 1 76968894 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76969040 1 76969041 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315093 1 76974109 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs387831 1 76975019 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76975082 1 76975083 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76975477 1 76975478 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76975508 1 76975509 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76975818 1 76975819 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76976141 1 76976142 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4949632 1 76976522 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17099107 1 76976888 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76977049 1 76977050 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76977192 1 76977193 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1002448 1 76977837 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76979034 1 76979035 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs114284926 1 76979035 [T/A] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12138578 1 76979347 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs188789 1 76979428 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12749279 1 76980646 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1932259 1 76982048 [G/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76982445 1 76982446 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75513895 1 76983536 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs423480 1 76985313 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116398947 1 76986023 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs367865465 1 76991397 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76992176 1 76992177 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.76992551 1 76992552 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79347663 1 76998796 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315079 1 77000914 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs410076 1 77001631 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315067 1 77008579 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77010501 1 77010502 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs172714 1 77015113 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12062929 1 77017187 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77017461 1 77017462 [G/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17099155 1 77019986 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs170261 1 77020803 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74373558 1 77022242 [C/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77022853 1 77022854 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77022858 1 77022859 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315049 1 77023273 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34418089 1 77025142 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11803608 1 77027431 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77028370 1 77028371 [T/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315011 1 77032015 [A/T] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315014 1 77033959 [A/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315015 1 77034771 [T/C] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs436806 1 77040188 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162180 1 77041553 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7513970 1 77041694 [A/G] NR_146056,NM_001160011,NM_001349106,NM_152996,NM_001349110,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs141496016 1 77046288 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs34514956 1 77047972 [T/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77048053 1 77048054 [T/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12117865 1 77048617 [T/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116242739 1 77048940 [A/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs315034 1 77051174 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs72680007 1 77056556 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77065402 1 77065403 [T/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77068431 1 77068432 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs116332132 1 77074693 [T/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77075469 1 77075470 [T/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77075819 1 77075820 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77077260 1 77077261 [T/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs341025 1 77080065 [T/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs600746 1 77083334 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11162183 1 77085067 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs114086493 1 77086332 [A/T] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79493487 1 77086343 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77086342 1 77086343 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs77296677 1 77088550 [G/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs187888973 1 77092402 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.77093009 1 77093010 [T/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:77093142-AG 1 77093142 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_Q122R,Missense_Q210R,Missense_Q222R,Missense_Q145R,Silent,Silent,Silent exm69523 1 77093180 [A/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_L135I,Missense_L223I,Missense_L235I,Missense_L158I,Silent,Silent,Silent rs1184626 1 77093180 [A/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_L135I,Missense_L223I,Missense_L235I,Missense_L158I,Silent,Silent,Silent exm1898998 1 77093195 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_A140T,Missense_A228T,Missense_A240T,Missense_A163T,Silent,Silent,Silent exm69524 1 77093243 [A/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_K156Q,Missense_K244Q,Missense_K256Q,Missense_K179Q,Silent,Silent,Silent rs627873 1 77093530 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1173686 1 77093829 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2253177 1 77094338 [T/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Synonymous_Y167Y,Synonymous_Y255Y,Synonymous_Y267Y,Synonymous_Y190Y,Synonymous_Y219Y,Silent,Synonymous_Y154Y exm69528 1 77094374 [A/T] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_F179L,Missense_F267L,Missense_F279L,Missense_F202L,Missense_F231L,Silent,Missense_F166L exm69529 1 77094375 [A/C] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_L180I,Missense_L268I,Missense_L280I,Missense_L203I,Missense_L232I,Silent,Missense_L167I rs199754738 1 77094396 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Missense_G187R,Missense_G275R,Missense_G287R,Missense_G210R,Missense_G239R,Silent,Missense_G174R rs41291526 1 77095084 [A/G] NR_146056,NM_001349106,NM_152996,NM_001349111,NM_001349108,NM_001349107,NM_001349109,NM_001349105 ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3,ST6GALNAC3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs661628 1 77098562 [A/G] NM_001349109 ST6GALNAC3 Silent rs150124486 1 77100692 [A/G] NM_001349109 ST6GALNAC3 EXON Silent rs114241267 1 77102479 [A/C] NM_001349109 ST6GALNAC3 EXON Silent rs341016 1 77102862 [A/G] NM_001349109 ST6GALNAC3 EXON Silent rs12041808 1 77103923 [T/C] rs2349044 1 77104773 [A/G] JHU_1.77106938 1 77106939 [A/G] JHU_1.77107217 1 77107218 [A/G] JHU_1.77108169 1 77108170 [A/G] JHU_1.77109223 1 77109224 [A/G] rs1925415 1 77109465 [T/C] JHU_1.77111283 1 77111284 [T/C] JHU_1.77112180 1 77112181 [T/C] rs80052694 1 77112921 [T/C] rs617252 1 77113454 [A/G] JHU_1.77113784 1 77113785 [T/C] rs11806044 1 77114602 [A/G] JHU_1.77115548 1 77115549 [A/C] rs149560949 1 77115765 [A/C] JHU_1.77115893 1 77115894 [G/C] rs116708523 1 77117771 [A/G] rs11809274 1 77118287 [A/G] rs12724872 1 77126746 [T/A] rs11162187 1 77132763 [T/C] rs689423 1 77138904 [A/G] rs114344930 1 77141435 [A/T] JHU_1.77141837 1 77141838 [T/G] rs72995621 1 77145817 [A/T] rs117242705 1 77146123 [T/C] rs10873899 1 77146173 [A/G] rs116336492 1 77148971 [T/G] rs507630 1 77149207 [T/G] JHU_1.77149460 1 77149461 [T/G] rs11577257 1 77150695 [A/T] rs638072 1 77154319 [A/G] rs202230589 1 77155834 [T/A] JHU_1.77165521 1 77165522 [C/G] rs117916729 1 77165596 [T/C] JHU_1.77167728 1 77167729 [A/G] JHU_1.77168258 1 77168259 [T/C] rs9324157 1 77168568 [T/G] rs489723 1 77170017 [A/G] rs74089739 1 77171020 [T/G] rs116569467 1 77171144 [T/C] rs11162193 1 77173587 [A/G] JHU_1.77179860 1 77179861 [T/C] JHU_1.77180524 1 77180525 [T/C] JHU_1.77180622 1 77180623 [T/A] rs1874806 1 77187595 [A/C] rs79769750 1 77187820 [A/G] JHU_1.77189753 1 77189754 [T/C] JHU_1.77189881 1 77189882 [C/G] rs647890 1 77190350 [T/C] rs12120882 1 77190465 [T/C] rs11801607 1 77190938 [C/G] rs1319001 1 77191953 [A/C] JHU_1.77196855 1 77196856 [A/G] rs151082650 1 77197981 [T/G] JHU_1.77199040 1 77199041 [T/A] rs1566250 1 77214364 [T/C] JHU_1.77214548 1 77214549 [T/C] rs962668 1 77217180 [T/C] JHU_1.77219201 1 77219202 [T/C] JHU_1.77219885 1 77219886 [T/A] rs115078720 1 77220516 [T/G] rs10493595 1 77222017 [G/C] rs924297 1 77223778 [A/G] rs77580625 1 77224972 [T/C] NR_149059 LINC02567 Silent rs75584780 1 77225990 [T/G] NR_149059 LINC02567 Silent rs4255423 1 77226258 [T/G] NR_149059 LINC02567 Silent rs191363093 1 77238012 [G/C] NR_149059 LINC02567 Silent rs115576955 1 77238129 [T/C] NR_149059 LINC02567 Silent rs7530899 1 77238731 [A/G] NR_149059 LINC02567 Silent JHU_1.77238962 1 77238963 [A/G] NR_149059 LINC02567 Silent rs10873910 1 77240543 [T/G] NR_149059 LINC02567 Silent rs12039677 1 77241276 [A/G] NR_149059 LINC02567 Silent rs11162205 1 77242042 [T/C] NR_149059 LINC02567 Silent JHU_1.77247543 1 77247544 [A/G] rs74648873 1 77249580 [T/C] rs10735747 1 77249803 [A/T] JHU_1.77250450 1 77250451 [A/C] rs78628465 1 77250565 [A/G] rs150019788 1 77251091 [A/C] JHU_1.77252455 1 77252456 [T/C] rs4506508 1 77256336 [A/C] rs78475995 1 77256628 [A/G] rs11577464 1 77259107 [A/G] rs4949641 1 77259153 [C/G] JHU_1.77264502 1 77264503 [A/C] rs7534641 1 77266676 [A/G] JHU_1.77272342 1 77272343 [A/G] rs185058845 1 77277070 [A/G] rs4077186 1 77280831 [T/C] rs4526656 1 77282567 [A/G] 1:77284133-G-T 1 77284133 [T/G] rs11162217 1 77284346 [A/G] JHU_1.77285232 1 77285233 [T/C] JHU_1.77285512 1 77285513 [A/G] rs12126169 1 77291022 [T/C] rs78713459 1 77291341 [A/G] rs72680076 1 77291849 [T/C] rs115886259 1 77294048 [A/G] exm2265020 1 77295109 [A/G] rs1316659 1 77299392 [T/C] rs192148376 1 77304174 [T/G] JHU_1.77305432 1 77305433 [A/T] JHU_1.77306140 1 77306141 [A/G] JHU_1.77307236 1 77307237 [A/G] JHU_1.77308301 1 77308302 [A/T] rs11811641 1 77317560 [A/G] JHU_1.77320970 1 77320971 [A/G] rs9660892 1 77323384 [T/C] rs1004878 1 77324640 [T/G] JHU_1.77328363 1 77328364 [C/G] JHU_1.77328461 1 77328462 [G/C] JHU_1.77328721 1 77328722 [T/G] rs191498891 1 77329931 [A/G] rs74089795 1 77331646 [T/G] rs1522618 1 77332627 [T/C] rs76305167 1 77333355 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Silent JHU_1.77337804 1 77337805 [A/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77348354 1 77348355 [A/T] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs61785563 1 77351118 [A/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs115607932 1 77351409 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77357326 1 77357327 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs138487517 1 77357578 [G/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs75809912 1 77358322 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs9729082 1 77369269 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs17099686 1 77371679 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs17099690 1 77371741 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs79603070 1 77372343 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs2350526 1 77376434 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77381608 1 77381609 [A/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1766285 1 77387631 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77391258 1 77391259 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs12409502 1 77392191 [A/T] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77392238 1 77392239 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs17368584 1 77396166 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs3113982 1 77397124 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77402639 1 77402640 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77404273 1 77404274 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1252593 1 77405284 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs12124645 1 77412583 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs78878137 1 77420527 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs143314859 1 77420999 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77421887 1 77421888 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1883776 1 77421888 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs9661805 1 77422194 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs858598 1 77422357 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs858600 1 77425159 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77428968 1 77428969 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs147208793 1 77430051 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs117355078 1 77435634 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs114670118 1 77436500 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs2143582 1 77453593 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1933393 1 77456303 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1933394 1 77457002 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77457930 1 77457931 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs10873925 1 77461735 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1933397 1 77464574 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1933398 1 77464672 [C/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs1933399 1 77464831 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs74090579 1 77476850 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs10782639 1 77477215 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs199667 1 77480445 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs35800181 1 77480681 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77480772 1 77480773 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs60780169 1 77482343 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs12064923 1 77483394 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs10489463 1 77484600 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77486602 1 77486603 [G/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77486616 1 77486617 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs199679 1 77487417 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs382631 1 77489403 [T/A] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs35804226 1 77490273 [A/T] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs145392017 1 77490601 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77491465 1 77491466 [C/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77492220 1 77492221 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent JHU_1.77493076 1 77493077 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs61782863 1 77493077 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs77830290 1 77499313 [C/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs199696 1 77505413 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs199698 1 77506217 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent 1:77507524-C-T 1 77507524 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs61782866 1 77508903 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent 1:77510013-GA 1 77510013 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Missense_R129H exm69571 1 77510163 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Missense_R179Q rs181695447 1 77510175 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Missense_G183D 1:77510244-GA 1 77510244 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Missense_R206H rs148581074 1 77510267 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Missense_E214K exm69578 1 77515977 [T/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Missense_V99G,Silent,Missense_F236V 1:77515982-AG 1 77515982 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Missense_N101D,Silent,Synonymous_T237T JHU_1.77517864 1 77517865 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs6682562 1 77519455 [T/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs74660848 1 77520584 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent rs73005331 1 77522267 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 Silent,Silent,Silent exm1903051 1 77528749 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Missense_R290H rs41292250 1 77530463 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Silent rs11162262 1 77531223 [A/C] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Silent rs199724 1 77531780 [A/G] NM_001320273,NM_001320274,NM_030965 ST6GALNAC5,ST6GALNAC5,ST6GALNAC5 EXON Silent,Silent,Silent JHU_1.77543952 1 77543953 [A/G] JHU_1.77544610 1 77544611 [A/T] rs169215 1 77546091 [A/C] exm2253243 1 77547831 [T/C] JHU_1.77547908 1 77547909 [A/G] JHU_1.77548141 1 77548142 [T/C] JHU_1.77548381 1 77548382 [T/C] rs199710 1 77550431 [T/C] rs6688757 1 77550946 [T/G] JHU_1.77551051 1 77551052 [T/C] rs117610400 1 77553271 [T/C] rs146731179 1 77556083 [A/G] NM_005482 PIGK EXON Silent rs12035349 1 77557339 [A/G] NM_005482 PIGK EXON Silent rs115725690 1 77557891 [T/C] NM_005482 PIGK EXON Silent JHU_1.77563819 1 77563820 [A/G] NM_005482 PIGK Silent JHU_1.77566110 1 77566111 [A/G] NM_005482 PIGK Silent rs4949766 1 77569489 [T/C] NM_005482 PIGK Silent rs7550325 1 77569545 [T/C] NM_005482 PIGK Silent JHU_1.77586683 1 77586684 [A/T] NM_005482 PIGK Silent rs6683950 1 77592351 [T/C] NM_005482 PIGK Silent JHU_1.77593055 1 77593056 [A/G] NM_005482 PIGK Silent rs146208679 1 77597795 [T/C] NM_005482 PIGK Silent JHU_1.77601059 1 77601060 [T/C] NM_005482 PIGK Silent rs858447 1 77607160 [A/G] NM_005482 PIGK Silent rs149962965 1 77607496 [T/C] NM_005482 PIGK Silent rs1098131 1 77616412 [A/G] NM_005482 PIGK Silent exm69602 1 77627018 [T/C] NM_005482 PIGK EXON Missense_E259K newrs142473240 1 77627279 [T/C] NM_005482 PIGK EXON Synonymous_S234S variant.4360 1 77629530 [T/C] NM_005482 PIGK Silent exm69613 1 77629532 [A/G] NM_005482 PIGK EXON Missense_R195C exm69617 1 77629565 [T/C] NM_005482 PIGK EXON Missense_A184T rs17637028 1 77630065 [G/C] NM_005482 PIGK Silent exm69619 1 77632448 [T/C] NM_005482 PIGK EXON Missense_R148H exm69621 1 77632493 [T/C] NM_005482 PIGK EXON Missense_R133Q rs1098125 1 77640166 [T/C] NM_005482 PIGK Silent rs1829913 1 77644806 [T/C] NM_005482 PIGK Silent rs115440059 1 77660074 [G/C] NM_005482 PIGK Silent rs74673385 1 77661734 [T/C] NM_005482 PIGK Silent JHU_1.77667751 1 77667752 [A/T] NM_005482 PIGK Silent JHU_1.77668568 1 77668569 [A/G] NM_005482 PIGK Silent JHU_1.77669141 1 77669142 [C/G] NM_005482 PIGK Silent 1:77672376-GA 1 77672376 [A/G] NM_005482 PIGK EXON Missense_A63V exm1903901 1 77672404 [A/G] NM_005482 PIGK EXON Nonsense_R54X rs41312658 1 77672558 [A/T] NM_005482 PIGK Silent 1:77676146-CA 1 77676146 [A/C] NM_005482 PIGK EXON Missense_G41V exm69632 1 77685042 [T/C] NM_005482 PIGK EXON Missense_T16A exm69634 1 77685050 [A/G] NM_005482 PIGK EXON Missense_V13A JHU_1.77690138 1 77690139 [T/C] rs77529488 1 77695059 [T/C] JHU_1.77695658 1 77695659 [C/G] rs11162294 1 77696756 [T/C] rs10518440 1 77696822 [A/G] rs12131286 1 77697582 [T/C] JHU_1.77700900 1 77700901 [A/G] rs11162297 1 77700928 [A/G] JHU_1.77703150 1 77703151 [A/C] rs34651353 1 77705420 [T/C] rs80207506 1 77706322 [A/G] rs2689672 1 77707391 [T/G] JHU_1.77707423 1 77707424 [A/G] rs112005871 1 77710109 [T/A] JHU_1.77710350 1 77710351 [A/G] rs17100075 1 77726109 [T/C] JHU_1.77728968 1 77728969 [T/C] rs75021178 1 77731637 [A/G] rs113737640 1 77731802 [A/G] rs12119637 1 77733420 [A/G] rs6692536 1 77734562 [A/G] rs940283 1 77737217 [T/C] JHU_1.77738198 1 77738199 [C/G] JHU_1.77738847 1 77738848 [A/T] JHU_1.77743001 1 77743002 [A/G] rs1851736 1 77747248 [T/G] 1:77748030-CA 1 77748030 [A/C] NM_174858 AK5 EXON Missense_A11D rs7534033 1 77749322 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs139207856 1 77750877 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:77752656-CA 1 77752656 [A/C] NM_174858,NM_012093 AK5,AK5 EXON Missense_P31T,Missense_P5T rs61784594 1 77755057 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs182151329 1 77756025 [G/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11806344 1 77756532 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs1167211 1 77759285 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs59668564 1 77761799 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm69660 1 77763309 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_I161V,Missense_I135V rs10782646 1 77766847 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs35328311 1 77773901 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77774143 1 77774144 [A/T] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17100274 1 77774413 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77774412 1 77774413 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7547493 1 77775233 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs9439799 1 77775853 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:77779483-AG 1 77779483 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:77779495-TCAGA-T 1 77779495 [D/I] NM_174858,NM_012093 AK5,AK5 1:77779561-CT 1 77779561 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs1167198 1 77779836 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77780097 1 77780098 [T/A] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7514177 1 77782761 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs12095801 1 77788129 [G/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs72679521 1 77791572 [T/A] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2815324 1 77791689 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:77806174-CT 1 77806174 [T/C] NM_174858,NM_012093 AK5,AK5 EXON Missense_T271I,Missense_T245I rs11162319 1 77808677 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs6696968 1 77809846 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2602933 1 77812575 [A/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17379082 1 77812803 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77815319 1 77815320 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2815334 1 77816367 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949653 1 77822519 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77822933 1 77822934 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs190238469 1 77825315 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77826181 1 77826182 [C/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs72944757 1 77826332 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs34997978 1 77828942 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:77367845_77367846ins 1 77833530 [D/I] NM_174858,NM_012093 AK5,AK5 1:77834538-C-T 1 77834538 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162326 1 77836489 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77838454 1 77838455 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17100475 1 77839480 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs10873933 1 77840100 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77842129 1 77842130 [A/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs79518479 1 77842733 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162331 1 77850800 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17100509 1 77852997 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs3844165 1 77854238 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs115868278 1 77856978 [A/T] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949800 1 77857683 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17379910 1 77863068 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77864097 1 77864098 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs12073309 1 77864326 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs6663047 1 77865140 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm2264861 1 77865140 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162334 1 77865771 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2882289 1 77872142 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs138057445 1 77874952 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949802 1 77876353 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs10873937 1 77879827 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7512897 1 77880188 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs12022440 1 77880369 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs1498404 1 77881769 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77884469 1 77884470 [A/T] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs1498407 1 77884712 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs10493606 1 77886499 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77887093 1 77887094 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2256735 1 77889069 [T/A] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs6673604 1 77894033 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77895957 1 77895958 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77896208 1 77896209 [A/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs12033923 1 77896355 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949655 1 77897688 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162341 1 77897713 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77898550 1 77898551 [T/A] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs139551623 1 77899297 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs76876117 1 77899667 [G/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs10873941 1 77902981 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77904009 1 77904010 [A/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs12407481 1 77904451 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:77905548-A-G 1 77905548 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77906723 1 77906724 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs113363157 1 77908161 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs6658302 1 77908985 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77909362 1 77909363 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77909586 1 77909587 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77909615 1 77909616 [A/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77909848 1 77909849 [T/A] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2647506 1 77914159 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs72681669 1 77917447 [C/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs72934314 1 77918936 [T/A] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77922613 1 77922614 [T/A] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs12568376 1 77924890 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs142802983 1 77927012 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs79489397 1 77930840 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs74092662 1 77935405 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs150019561 1 77937722 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2647503 1 77939418 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs139128265 1 77942446 [A/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77942591 1 77942592 [T/A] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162351 1 77944732 [G/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs79603292 1 77945414 [A/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77945840 1 77945841 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs12738273 1 77945841 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:77949003-GT 1 77949003 [T/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_G354V,Missense_G328V rs7522356 1 77951460 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs77015705 1 77952110 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs9324162 1 77954804 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2647497 1 77955556 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77956482 1 77956483 [A/T] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17380592 1 77961919 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7514041 1 77964269 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs59556669 1 77964282 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77965554 1 77965555 [T/A] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77965586 1 77965587 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77966565 1 77966566 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs71658797 1 77967507 [A/T] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs3104467 1 77971047 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17380796 1 77976117 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs138539470 1 77978847 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs116252806 1 77978972 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:77984336-GA 1 77984336 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_R412H,Missense_R386H rs10873947 1 77986516 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm69694 1 77987557 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_G453R,Missense_G427R 1:77987584-GA 1 77987584 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_G462S,Missense_G436S JHU_1.77987593 1 77987594 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_R465Q,Missense_R439Q exm69697 1 77987594 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_R465Q,Missense_R439Q JHU_1.77988118 1 77988119 [A/T] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17100672 1 77988371 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77990515 1 77990516 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949805 1 77991029 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2803136 1 77992695 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77994062 1 77994063 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.77994887 1 77994888 [C/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17100677 1 77994888 [C/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:77998680-C-T 1 77998680 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:77998870-G-A 1 77998870 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs115050899 1 78000434 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:78001646-GA 1 78001646 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_A515T,Missense_A489T exm69704 1 78001652 [T/C] NM_174858,NM_012093 AK5,AK5 EXON Missense_R517C,Missense_R491C 1:78001712-CA 1 78001712 [A/C] NM_174858,NM_012093 AK5,AK5 EXON Missense_Q537K,Missense_Q511K JHU_1.78016232 1 78016233 [C/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949659 1 78017571 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent JHU_1.78019671 1 78019672 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs1565851 1 78022217 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7536433 1 78023173 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent 1:78024345-C-CTAT 1 78024345 [I/D] NM_174858,NM_012093 AK5,AK5 EXON 1:78031362-TG 1 78031362 [T/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_N892T,Missense_N398T exm69712 1 78031434 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_Q868R,Missense_Q374R exm69713 1 78031441 [A/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_D866Y,Missense_D372Y rs143489170 1 78032896 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent exm1907349 1 78034049 [C/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_E812Q,Missense_E318Q exm69720 1 78034075 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_K803R,Missense_K309R rs17100774 1 78039216 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs139005861 1 78041039 [T/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent exm1907440 1 78041762 [T/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_E774D,Missense_E280D exm69725 1 78041799 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_R762Q,Missense_R268Q 1:78046721-GT 1 78046721 [T/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_P648T,Missense_P154T exm69751 1 78047705 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_R584H,Missense_R90H 1:78047718-CA 1 78047718 [A/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Nonsense_E580X,Nonsense_E86X exm-rs17381664 1 78048331 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs17381664 1 78048331 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent var_1_78050300 1 78050300 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Nonsense_Q516X,Nonsense_Q22X rs117304398 1 78054275 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs144566276 1 78054921 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs1994924 1 78060505 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent JHU_1.78064138 1 78064139 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent JHU_1.78076935 1 78076936 [A/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs7546605 1 78079790 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent 1:78097592-TC 1 78097592 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_D483G,Silent exm69777 1 78097803 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_N413D,Silent exm69778 1 78097823 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_E406G,Silent 1:78097850-GA 1 78097850 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_S397F,Silent 1:78097914-AG 1 78097914 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_Y376H,Silent exm69782 1 78097947 [T/A] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_M365L,Silent exm69786 1 78098003 [T/A] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_M346K,Silent 1:78098019-TG 1 78098019 [T/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_T341P,Silent exm69793 1 78098151 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_T297A,Silent exm2233836 1 78098190 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_T284A,Silent 1:78098289-TC 1 78098289 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_M251V,Silent exm69803 1 78098402 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_I213T,Silent exm69804 1 78098403 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_I213V,Silent exm69805 1 78098409 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_A211T,Silent exm69806 1 78098432 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_N203S,Silent indel.4370 1 78098810 [D/I] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON 1:78098939-GA 1 78098939 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_A34V,Silent exm69823 1 78099032 [C/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 EXON Missense_A3G,Silent rs148075125 1 78104841 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs139127516 1 78105352 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs143142922 1 78105383 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs278835 1 78119013 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs61777120 1 78122320 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent JHU_1.78123885 1 78123886 [A/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent JHU_1.78127108 1 78127109 [A/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs278853 1 78130243 [T/C] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs17100891 1 78132979 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs17100916 1 78141164 [A/G] NM_015534,NM_001308237 ZZZ3,ZZZ3 Silent,Silent rs74857388 1 78149902 [A/G] variant.4371 1 78163079 [A/G] NM_015017,NM_201624 USP33,USP33 EXON Nonsense_R918X,Nonsense_R887X 1:78167120-TC 1 78167120 [T/C] NM_015017,NM_201624 USP33,USP33 EXON Missense_T846A,Missense_T815A 1:78167137-TC 1 78167137 [T/C] NM_015017,NM_201624 USP33,USP33 EXON Missense_K840R,Missense_K809R JHU_1.78167862 1 78167863 [A/C] NM_015017,NM_201624 USP33,USP33 Silent,Silent rs12021502 1 78168758 [A/C] NM_015017,NM_201624 USP33,USP33 Silent,Silent rs79302605 1 78172854 [A/G] NM_015017,NM_201624 USP33,USP33 Silent,Silent rs12744863 1 78173980 [A/G] NM_015017,NM_201624 USP33,USP33 Silent,Silent exm1908148 1 78178961 [T/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_P772T,Missense_P741T,Missense_P764T 1:78180346-GA 1 78180346 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_A754V,Missense_A723V,Missense_A746V chr1_78180425 1 78180425 [T/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_N728H,Missense_N697H,Missense_N720H exm69858 1 78180445 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_K721R,Missense_K690R,Missense_K713R exm69865 1 78183666 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_V633I,Missense_V602I,Missense_V625I rs11162378 1 78183861 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 Silent,Silent,Silent rs12142671 1 78184325 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Synonymous_L596L,Synonymous_L565L,Synonymous_L588L exm69871 1 78184325 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Synonymous_L596L,Synonymous_L565L,Synonymous_L588L variant.4372 1 78187746 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Nonsense_Q540X,Nonsense_Q509X,Nonsense_Q540X exm69880 1 78187783 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_I527M,Missense_I496M,Missense_I527M exm69885 1 78189051 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_I483V,Missense_I452V,Missense_I483V 1:78191364-CT 1 78191364 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_A438T,Missense_A407T,Missense_A438T chr1_78194133 1 78194133 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_M359V,Missense_M328V,Missense_M359V exm2233838 1 78194235 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_S325G,Missense_S294G,Missense_S325G exm69910 1 78194300 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_T303I,Missense_T272I,Missense_T303I chr1_78194329 1 78194329 [T/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_E293D,Missense_E262D,Missense_E293D rs72683688 1 78195366 [T/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 Silent,Silent,Silent exm69922 1 78201770 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_A173V,Missense_A142V,Missense_A173V exm69926 1 78204961 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_N145D,Missense_N114D,Missense_N145D 1:78206570-GT 1 78206570 [T/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_H95N,Missense_H64N,Missense_H95N exm69937 1 78207409 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_G23R,Silent,Missense_G23R 1:78209401-C-T 1 78209401 [T/C] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 Silent,Silent,Silent rs143772122 1 78211122 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Missense_T9M,Silent,Missense_T9M rs151041967 1 78232232 [A/C] rs116234311 1 78233915 [A/G] 1:78248953-GA 1 78248953 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_V38I,Missense_V38I,Missense_V6I,Missense_V6I,Missense_V6I rs1166588 1 78254258 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent rs12027183 1 78255822 [T/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent JHU_1.78262622 1 78262623 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent variant.4374 1 78267014 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent 1:78267137-CT 1 78267137 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_P106L,Missense_P106L,Missense_P74L,Missense_P74L,Missense_P74L exm1908264 1 78267157 [A/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_I113L,Missense_I113L,Missense_I81L,Missense_I81L,Missense_I81L exm69960 1 78267163 [G/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_E115Q,Missense_E115Q,Missense_E83Q,Missense_E83Q,Missense_E83Q 1:78269015-AG 1 78269015 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_K145R,Missense_K145R,Missense_K113R,Missense_K113R,Missense_K113R chr1_78269039 1 78269039 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_A153V,Missense_A153V,Missense_A121V,Missense_A121V,Missense_A121V exm69965 1 78269053 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_F158L,Missense_F158L,Missense_F126L,Missense_F126L,Missense_F126L rs141132857 1 78277249 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent exm69970 1 78279446 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_R222H,Missense_R222H,Missense_R190H,Missense_R190H,Missense_R190H variant.4376 1 78279557 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent exm69974 1 78280886 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_S289P,Missense_S289P,Missense_S257P,Missense_S257P,Missense_S257P rs10873955 1 78284211 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent JHU_1.78295505 1 78295506 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent JHU_1.78295936 1 78295937 [A/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent 1:78300057-T-C 1 78300057 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent rs60290283 1 78300352 [A/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent rs6604878 1 78305783 [T/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent exm2268903 1 78305859 [T/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent exm69980 1 78324641 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_V339I,Missense_V339I,Missense_V307I,Missense_V307I,Missense_V307I 1:78324738-TC 1 78324738 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_L371P,Missense_L371P,Missense_L339P,Missense_L339P,Missense_L339P exm69987 1 78325752 [A/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_I406V,Missense_I406V,Missense_I374V,Missense_I374V,Missense_I374V variant.4377 1 78325770 [T/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Nonsense_G412X,Nonsense_G412X,Nonsense_G380X,Nonsense_G380X,Nonsense_G380X rs12027558 1 78329350 [A/T] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent exm70004 1 78338763 [C/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_L546F,Missense_L547F,Missense_L514F,Missense_L514F,Missense_L514F exm70006 1 78338798 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_F558S,Missense_F559S,Missense_F526S,Missense_F526S,Missense_F526S rs9663066 1 78339654 [T/G] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 Silent,Silent,Silent,Silent,Silent exm70008 1 78340540 [A/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_L564I,Missense_L565I,Missense_L532I,Missense_L532I,Missense_L532I 1:78340579-CT 1 78340579 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_R577C,Missense_R578C,Missense_R545C,Missense_R545C,Missense_R545C 1:78340630-CT 1 78340630 [T/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Missense_R594C,Missense_R595C,Missense_R562C,Missense_R562C,Missense_R562C JHU_1.78344984 1 78344985 [A/C] NM_198549,NM_001270384,NM_001363583,NM_001363584,NM_001363586 MIGA1,MIGA1,MIGA1,MIGA1,MIGA1 EXON Silent,Silent,Silent,Silent,Silent rs77803049 1 78351173 [T/C] NR_103535 NEXN-AS1 Silent rs189957833 1 78355178 [T/G] NR_103535,NM_144573,NM_001172309 NEXN-AS1,NEXN,NEXN EXON Silent,Silent,Silent rs59087988 1 78369212 [T/G] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent rs78151298 1 78370239 [T/A] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent rs74092328 1 78370243 [A/G] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent JHU_1.78371036 1 78371037 [A/C] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent variant.4379 1 78383249 [A/G] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent 1:78383294-CA 1 78383294 [A/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_P24Q,Silent rs200345240 1 78383329 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E36K,Silent rs199720912 1 78383669 [C/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_D82H,Missense_D18H rs372532824 1 78383674 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Synonymous_E83E,Synonymous_E19E seq-rs387907079 1 78383902 [G/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_Q131E,Missense_Q67E 1:78383902-C-G 1 78383902 [G/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_Q131E,Missense_Q67E ilmnseq_rs397517858 1 78383903 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_Q131R,Missense_Q67R rs372065024 1 78392121 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_I171T,Missense_I107T 1:78392121-TC 1 78392121 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_I171T,Missense_I107T rs201447781 1 78392222 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E205K,Missense_E141K exm70040 1 78392222 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E205K,Missense_E141K indel.4380 1 78392431 [D/I] NM_144573,NM_001172309 NEXN,NEXN EXON rs201171783 1 78392445 [A/C] NM_144573,NM_001172309 NEXN,NEXN EXON Synonymous_P244P,Synonymous_P180P rs1166698 1 78392446 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_G245R,Missense_G181R exm1908376 1 78392548 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_R279C,Missense_R215C rs146245480 1 78392548 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_R279C,Missense_R215C variant.4382 1 78392577 [T/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_M288I,Missense_M224I rs188416492 1 78392589 [T/A] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent ilmnseq_rs727505353 1 78394996 [A/G] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent exm70056 1 78395029 [C/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_T298R,Missense_T234R ilmnseq_rs559464457 1 78395085 [A/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_M317L,Missense_M253L 1:78395085-AC 1 78395085 [A/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_M317L,Missense_M253L rs201763096 1 78395131 [A/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E332A,Missense_E268A exm70060 1 78395131 [A/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E332A,Missense_E268A 1:78395164-CT 1 78395164 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_A343V,Missense_A279V rs374260457 1 78395165 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Synonymous_A343A,Synonymous_A279A rs369897647 1 78398978 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Synonymous_D355D,Synonymous_D291D exm70066 1 78399084 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Nonsense_R391X,Nonsense_R327X rs201806320 1 78399103 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_R397Q,Missense_R333Q JHU_1.78399991 1 78399992 [A/G] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent JHU_1.78400152 1 78400153 [A/C] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent rs1780050 1 78400540 [A/C] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent rs61778875 1 78401267 [T/C] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent 1:78401640-GA 1 78401640 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E462K,Missense_E398K rs35366555 1 78401664 [C/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_E470Q,Missense_E406Q exm70076 1 78401691 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_L479F,Missense_L415F rs181520023 1 78401691 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_L479F,Missense_L415F JHU_1.78406930 1 78406931 [T/G] NM_144573,NM_001172309 NEXN,NEXN Silent,Silent 1:78407806-GAGA-G 1 78407806 [I/D] NM_144573,NM_001172309 NEXN,NEXN EXON exm70086 1 78407852 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_M540V,Missense_M476V exm70093 1 78408274 [T/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_S596R,Missense_S532R seq-rs756709134 1 78408291 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_T602M,Missense_T538M 1:78408317-C-A 1 78408317 [A/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_P611T,Missense_P547T seq-rs794729086 1 78408421 [C/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_F645L,Missense_F581L exm70096 1 78408441 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_Y652C,Missense_Y588C rs137853197 1 78408441 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_Y652C,Missense_Y588C 1:78408444-TC 1 78408444 [T/C] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_M653T,Missense_M589T seq-rs794729087 1 78408486 [A/G] NM_144573,NM_001172309 NEXN,NEXN EXON Missense_C667Y,Missense_C603Y JHU_1.78411483 1 78411484 [T/C] NR_146540,NR_146539 FUBP1,FUBP1 Silent,Silent rs74092337 1 78411484 [T/C] NR_146540,NR_146539 FUBP1,FUBP1 Silent,Silent rs112751121 1 78415422 [G/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 Silent,Silent,Silent,Silent,Silent JHU_1.78421502 1 78421503 [T/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 Silent,Silent,Silent,Silent,Silent exm70107 1 78422374 [T/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_T551A,Missense_T530A rs149415817 1 78428595 [T/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_I423V,Missense_I402V 1:78429811-GA 1 78429811 [A/G] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_T347I,Missense_T326I rs200871038 1 78430022 [A/G] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_A307V,Missense_A286V rs140398386 1 78430353 [A/G] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_I293T,Missense_I272T 1:78430353-AG 1 78430353 [A/G] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_I293T,Missense_I272T 1:78430617-CT 1 78430617 [T/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_G246R,Missense_G225R 1:78430904-CT 1 78430904 [T/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_R183Q,Missense_R162Q 1:78432612-GA 1 78432612 [A/G] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_S145L,Missense_S124L exm70156 1 78433856 [T/G] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_Q102H,Missense_Q81H rs138606412 1 78433856 [T/G] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Missense_Q102H,Missense_Q81H variant.4387 1 78435604 [T/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 Silent,Silent,Silent,Silent,Silent 1:78435612-CA 1 78435612 [A/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Nonsense_G70X,Nonsense_G70X 1:78435636-CA 1 78435636 [A/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 EXON Silent,Silent,Silent,Nonsense_G62X,Nonsense_G62X rs144607214 1 78436910 [T/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 Silent,Silent,Silent,Silent,Silent rs139129895 1 78442127 [T/C] NR_146540,NR_146539,NR_130152,NM_001303433,NM_003902 FUBP1,FUBP1,FUBP1,FUBP1,FUBP1 Silent,Silent,Silent,Silent,Silent rs12401738 1 78446761 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099 DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent rs34517439 1 78450517 [A/C] NM_001317102,NM_001317101,NM_001317100,NM_001317099 DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent JHU_1.78450516 1 78450517 [A/C] NM_001317102,NM_001317101,NM_001317100,NM_001317099 DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent JHU_1.78456354 1 78456355 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099 DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent rs138825806 1 78467777 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099 DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent variant.4388 1 78471010 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.78474707 1 78474708 [A/T] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent,Silent,Silent JHU_1.78475075 1 78475076 [T/C] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent,Silent,Silent rs6424648 1 78475199 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent,Silent,Silent exm1908526 1 78478821 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Silent,Silent,Missense_A60T,Missense_A100T,Missense_A100T,Silent exm70178 1 78478903 [A/T] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Missense_I12K,Missense_I12K,Missense_I87K,Missense_I127K,Missense_I127K,Silent 1:78479085-GT 1 78479085 [T/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Missense_A73S,Missense_A73S,Missense_A148S,Missense_A188S,Missense_A188S,Silent exm70192 1 78479287 [T/A] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Missense_K140I,Missense_K140I,Missense_K215I,Missense_K255I,Missense_K255I,Silent variant.4389 1 78479298 [T/C] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Nonsense_R144X,Nonsense_R144X,Nonsense_R219X,Nonsense_R259X,Nonsense_R259X,Silent rs1039863 1 78481640 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 Silent,Silent,Silent,Silent,Silent,Silent exm70193 1 78481716 [A/G] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Missense_I152V,Missense_I152V,Missense_I227V,Missense_I267V,Missense_I267V,Missense_N77S exm70194 1 78481725 [T/C] NM_001317102,NM_001317101,NM_001317100,NM_001317099,NM_007034,NM_001317103 DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4,DNAJB4 EXON Missense_P155S,Missense_P155S,Missense_P230S,Missense_P270S,Missense_P270S,Silent JHU_1.78483811 1 78483812 [T/C] JHU_1.78488816 1 78488817 [T/C] rs6424659 1 78501215 [T/C] rs12411130 1 78502520 [A/C] JHU_1.78506967 1 78506968 [A/C] rs74690531 1 78507206 [T/C] JHU_1.78508365 1 78508366 [T/A] 1:78511799-GGAA-G 1 78511799 [I/D] NM_001304725,NM_017655 GIPC2,GIPC2 EXON chr1_78511809 1 78511809 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Silent,Missense_A11T 1:78511852-CT 1 78511852 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Silent,Missense_T25M chr1_78511941 1 78511941 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Silent,Missense_G55S exm70207 1 78511980 [T/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Silent,Missense_A68S 1:78512011-CA 1 78512011 [A/C] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Silent,Missense_P78Q rs17387740 1 78512726 [G/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs74342526 1 78514418 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs12123953 1 78515147 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent JHU_1.78516966 1 78516967 [T/A] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent JHU_1.78517476 1 78517477 [A/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs12067638 1 78520822 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs4245660 1 78540733 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs693127 1 78542414 [T/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent JHU_1.78545210 1 78545211 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent 1:78546365-TC 1 78546365 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_Y9H,Missense_Y83H variant.4390 1 78546375 [T/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Nonsense_L12X,Nonsense_L86X Variant38019 1 78546379 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Synonymous_N13N,Synonymous_N87N indel.4391 1 78546380 [I/D] NM_001304725,NM_017655 GIPC2,GIPC2 EXON exm70211 1 78546462 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_E41G,Missense_E115G exm70214 1 78546500 [C/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_G54R,Missense_G128R 1:78546507-CT 1 78546507 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_T56I,Missense_T130I rs78938072 1 78546645 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs662330 1 78555106 [A/T] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs56140793 1 78557170 [T/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent JHU_1.78557513 1 78557514 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs630640 1 78557608 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent JHU_1.78559825 1 78559826 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent 1:78560727-TG-T 1 78560727 [D/I] NM_001304725,NM_017655 GIPC2,GIPC2 EXON 1:78560730-GA 1 78560730 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_R100H,Missense_R174H indel.4393 1 78560780 [I/D] NM_001304725,NM_017655 GIPC2,GIPC2 EXON rs12409081 1 78567245 [T/A] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent JHU_1.78569867 1 78569868 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent exm2264862 1 78574129 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs6666954 1 78578177 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs1848837 1 78578550 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent JHU_1.78579586 1 78579587 [A/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs1889674 1 78581104 [C/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent exm70227 1 78585086 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_L132P,Missense_L206P rs540742 1 78585086 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_L132P,Missense_L206P newrs140087680 1 78585115 [T/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Nonsense_E142X,Nonsense_E216X variant.4397 1 78585188 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent JHU_1.78588962 1 78588963 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs144747954 1 78589938 [T/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs573952 1 78590204 [A/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs12758374 1 78590255 [A/C] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent JHU_1.78597622 1 78597623 [T/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs74434223 1 78600896 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent JHU_1.78600994 1 78600995 [C/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent rs78296518 1 78601048 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 Silent,Silent 1:78601281-AG 1 78601281 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_T194A,Missense_T268A 1:78601371-GA 1 78601371 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Missense_E224K,Missense_E298K exm70240 1 78601390 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Nonsense_W230X,Nonsense_W304X var_1_78601390 1 78601390 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Nonsense_W230X,Nonsense_W304X rs661136 1 78603383 [A/G] NM_001304725,NM_017655 GIPC2,GIPC2 EXON Silent,Silent rs554298 1 78604614 [A/G] rs147122843 1 78606842 [A/G] rs586300 1 78607268 [T/G] rs12031002 1 78608039 [T/G] JHU_1.78608038 1 78608039 [T/G] JHU_1.78608145 1 78608146 [T/A] JHU_1.78608155 1 78608156 [C/G] JHU_1.78608203 1 78608204 [A/G] JHU_1.78608544 1 78608545 [A/G] JHU_1.78617029 1 78617030 [A/G] JHU_1.78617846 1 78617847 [A/T] rs139468473 1 78621473 [T/C] exm-rs17391694 1 78623626 [T/C] JHU_1.78623625 1 78623626 [T/C] rs17391694 1 78623626 [T/C] rs6682319 1 78624066 [A/G] rs7555504 1 78629908 [T/G] rs12184300 1 78632090 [T/C] JHU_1.78633408 1 78633409 [A/G] rs11799753 1 78634053 [T/C] JHU_1.78634463 1 78634464 [A/G] 1:78638092-A-T 1 78638092 [A/T] rs689374 1 78639244 [T/C] 1:78640603-A-C 1 78640603 [A/C] JHU_1.78642350 1 78642351 [T/C] rs17101475 1 78643674 [T/C] JHU_1.78663574 1 78663575 [A/T] rs683097 1 78666990 [T/G] rs12085106 1 78668056 [C/G] JHU_1.78668235 1 78668236 [A/G] rs12406019 1 78678130 [A/G] rs72688731 1 78679178 [A/G] JHU_1.78687286 1 78687287 [T/G] rs7534847 1 78690029 [C/G] rs669764 1 78691660 [T/C] rs76592019 1 78694010 [T/C] rs61779483 1 78694352 [A/G] rs2181453 1 78696522 [T/C] NR_027310 MGC27382 Silent rs34040409 1 78698386 [A/G] NR_027310 MGC27382 Silent rs942100 1 78699394 [A/G] NR_027310 MGC27382 Silent rs12409525 1 78708393 [T/C] NR_027310 MGC27382 Silent JHU_1.78709071 1 78709072 [T/C] NR_027310 MGC27382 Silent rs143011697 1 78713916 [T/A] NR_027310 MGC27382 Silent rs644224 1 78714497 [T/C] NR_027310 MGC27382 Silent JHU_1.78719524 1 78719525 [T/C] NR_027310 MGC27382 Silent JHU_1.78720457 1 78720458 [A/G] NR_027310 MGC27382 Silent JHU_1.78720556 1 78720557 [T/G] NR_027310 MGC27382 Silent rs146448514 1 78721228 [A/G] NR_027310 MGC27382 Silent rs6656584 1 78721238 [A/G] NR_027310 MGC27382 Silent rs192607667 1 78722274 [A/G] NR_027310 MGC27382 Silent rs72688756 1 78732609 [A/G] NR_027310 MGC27382 Silent rs138757329 1 78732953 [A/G] NR_027310 MGC27382 Silent JHU_1.78741344 1 78741345 [A/C] NR_027310 MGC27382 Silent rs11579906 1 78741775 [T/C] NR_027310 MGC27382 Silent JHU_1.78742019 1 78742020 [A/G] NR_027310 MGC27382 Silent JHU_1.78742023 1 78742024 [T/C] NR_027310 MGC27382 Silent rs6685021 1 78742185 [T/C] NR_027310 MGC27382 Silent JHU_1.78742792 1 78742793 [A/G] NR_027310 MGC27382 Silent rs1952363 1 78743308 [A/G] NR_027310 MGC27382 Silent 1:78745323-T-C 1 78745323 [T/C] NR_027310 MGC27382 Silent rs1953956 1 78749406 [A/G] NR_027310 MGC27382 Silent rs6424762 1 78749908 [A/C] NR_027310 MGC27382 Silent JHU_1.78753515 1 78753516 [T/G] NR_027310 MGC27382 Silent rs12144203 1 78756602 [A/C] NR_027310 MGC27382 Silent rs11162451 1 78760605 [A/C] NR_027310 MGC27382 Silent rs112736433 1 78762404 [A/G] NR_027310 MGC27382 Silent rs77012317 1 78764212 [A/G] NR_027310 MGC27382 Silent JHU_1.78765353 1 78765354 [T/C] NR_027310 MGC27382 Silent rs720887 1 78766380 [A/C] NR_027310 MGC27382 Silent rs12728306 1 78767177 [T/C] NR_027310 MGC27382 Silent JHU_1.78768644 1 78768645 [A/G] NR_027310 MGC27382 Silent JHU_1.78771828 1 78771829 [T/C] NR_027310 MGC27382 Silent rs11162456 1 78772046 [A/G] NR_027310 MGC27382 Silent rs74800923 1 78772809 [T/C] NR_027310 MGC27382 Silent JHU_1.78772987 1 78772988 [A/T] NR_027310 MGC27382 Silent rs78568029 1 78774980 [A/G] NR_027310 MGC27382 Silent rs6702847 1 78775041 [T/C] NR_027310 MGC27382 Silent rs11162463 1 78781923 [A/G] NR_027310 MGC27382 Silent rs80355711 1 78781945 [A/G] NR_027310 MGC27382 Silent rs2352037 1 78790740 [A/C] NR_027310 MGC27382 Silent rs1417103 1 78799291 [A/G] NR_027310 MGC27382 Silent rs12063386 1 78800843 [T/G] NR_027310 MGC27382 Silent JHU_1.78805668 1 78805669 [T/C] NR_027310 MGC27382 Silent JHU_1.78808690 1 78808691 [A/T] NR_027310 MGC27382 Silent JHU_1.78811687 1 78811688 [T/C] NR_027310 MGC27382 Silent rs118120985 1 78813851 [A/G] NR_027310 MGC27382 Silent JHU_1.78815471 1 78815472 [A/T] NR_027310 MGC27382 Silent rs17388283 1 78815854 [T/C] NR_027310 MGC27382 Silent JHU_1.78816199 1 78816200 [T/C] NR_027310 MGC27382 Silent rs146942462 1 78817109 [T/C] NR_027310 MGC27382 Silent rs78008462 1 78819708 [A/G] NR_027310 MGC27382 Silent rs2352039 1 78819945 [T/G] NR_027310 MGC27382 Silent rs10873978 1 78821497 [T/C] NR_027310 MGC27382 Silent rs59584643 1 78821982 [A/G] NR_027310 MGC27382 Silent JHU_1.78825714 1 78825715 [T/C] NR_027310 MGC27382 Silent rs7533564 1 78825912 [T/C] NR_027310 MGC27382 Silent rs9628620 1 78826857 [A/G] NR_027310 MGC27382 Silent JHU_1.78829834 1 78829835 [T/A] NR_027310 MGC27382 Silent JHU_1.78832708 1 78832709 [A/G] NR_027310 MGC27382 Silent rs11809460 1 78834864 [A/G] NR_027310 MGC27382 Silent rs72672180 1 78836100 [A/G] rs1034186 1 78836468 [T/A] JHU_1.78836739 1 78836740 [T/G] rs75927182 1 78841127 [T/C] JHU_1.78842264 1 78842265 [T/C] JHU_1.78846184 1 78846185 [A/C] JHU_1.78849181 1 78849182 [T/C] rs4650347 1 78850290 [T/C] rs112869470 1 78850373 [T/C] rs138775196 1 78855149 [A/G] rs60571060 1 78865249 [T/C] rs139135406 1 78867297 [C/G] JHU_1.78869637 1 78869638 [A/C] JHU_1.78875105 1 78875106 [T/C] JHU_1.78877021 1 78877022 [A/C] JHU_1.78883454 1 78883455 [T/A] rs68190628 1 78884666 [A/G] rs648425 1 78887208 [T/C] rs114186441 1 78888751 [G/C] JHU_1.78889321 1 78889322 [T/G] rs674345 1 78894934 [T/C] JHU_1.78895825 1 78895826 [A/T] JHU_1.78899495 1 78899496 [T/G] rs149995069 1 78903731 [T/C] rs56345482 1 78905136 [A/G] JHU_1.78906868 1 78906869 [T/G] JHU_1.78912606 1 78912607 [T/C] rs12049259 1 78916317 [A/G] rs75860682 1 78920317 [A/C] JHU_1.78933671 1 78933672 [T/C] rs6678699 1 78934451 [A/C] rs1888894 1 78936064 [A/G] JHU_1.78937193 1 78937194 [T/C] rs6692239 1 78937828 [T/C] rs1412414 1 78938777 [A/G] rs12085484 1 78939670 [T/C] rs77572227 1 78941439 [A/G] rs4650547 1 78942270 [T/C] rs78790806 1 78942318 [A/G] rs4650548 1 78942490 [T/G] JHU_1.78943793 1 78943794 [T/G] rs77243851 1 78949161 [G/C] JHU_1.78955604 1 78955605 [A/G] JHU_1.78955968 1 78955969 [A/C] 1:78956432-T-C 1 78956432 [T/C] rs3753380 1 78956432 [T/C] rs114041098 1 78957242 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs3766355 1 78957441 [A/C] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs143880975 1 78957469 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs3766353 1 78957859 [T/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent exm70251 1 78958457 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_V10A,Missense_V10A JHU_1.78958490 1 78958491 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Synonymous_T21T,Synonymous_T21T indel.4400 1 78958518 [I/D] NM_000959,NM_001039585 PTGFR,PTGFR EXON exm2233850 1 78958628 [T/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_L67R,Missense_L67R exm70261 1 78958691 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_A88V,Missense_A88V exm70265 1 78958862 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_T145M,Missense_T145M exm70270 1 78958893 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_M155I,Missense_M155I indel.4401 1 78958911 [D/I] NM_000959,NM_001039585 PTGFR,PTGFR EXON 1:78958963-AG 1 78958963 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_I179V,Missense_I179V exm70280 1 78959081 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_L218S,Missense_L218S exm70281 1 78959117 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_V230A,Missense_V230A JHU_1.78959933 1 78959934 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs1322935 1 78963305 [A/C] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs1322934 1 78963437 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent exm70293 1 78963581 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Silent,Missense_G274E exm70294 1 78963587 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Silent,Missense_E276G rs11808292 1 78965778 [A/T] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent JHU_1.78966801 1 78966802 [T/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent JHU_1.78970501 1 78970502 [A/C] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs75987637 1 78971427 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs12096017 1 78974909 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs76295023 1 78976076 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs6701594 1 78976570 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent JHU_1.78979284 1 78979285 [T/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent JHU_1.78986711 1 78986712 [T/A] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs35135762 1 78987119 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs672561 1 78987302 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent JHU_1.78987342 1 78987343 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs554173 1 78991255 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent JHU_1.78996640 1 78996641 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs13374108 1 78998587 [T/A] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs33966768 1 78998759 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent rs686262 1 78999367 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR Silent,Silent exm70300 1 79002115 [A/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_N275H,Missense_X298Y var_1_79002214 1 79002214 [T/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Nonsense_R308X,Silent exm1908770 1 79002230 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_K313R,Silent exm70307 1 79002304 [A/G] NM_000959,NM_001039585 PTGFR,PTGFR EXON Missense_I338V,Silent rs898 1 79003258 [A/C] NM_000959,NM_001039585 PTGFR,PTGFR EXON Silent,Silent rs516906 1 79013106 [T/C] rs139318830 1 79018918 [A/G] JHU_1.79019870 1 79019871 [A/G] JHU_1.79020529 1 79020530 [G/C] JHU_1.79021585 1 79021586 [A/G] rs2057425 1 79026487 [T/C] rs4650583 1 79031415 [C/G] JHU_1.79037712 1 79037713 [T/C] rs72673940 1 79038317 [T/C] rs72673945 1 79046605 [T/C] rs144866096 1 79047179 [T/G] rs1023253 1 79051869 [T/C] rs75478789 1 79055663 [T/G] exm2265021 1 79056297 [A/G] rs76395835 1 79058133 [T/C] rs6673753 1 79059671 [T/C] JHU_1.79062402 1 79062403 [A/G] JHU_1.79062615 1 79062616 [T/C] JHU_1.79062783 1 79062784 [A/T] JHU_1.79063423 1 79063424 [A/C] JHU_1.79063488 1 79063489 [A/T] JHU_1.79063771 1 79063772 [T/C] JHU_1.79063857 1 79063858 [T/C] rs1475736 1 79063858 [T/C] rs141263929 1 79063902 [A/C] rs12068468 1 79065052 [A/G] rs273236 1 79080036 [T/C] rs273238 1 79082772 [A/G] JHU_1.79083211 1 79083212 [G/C] rs12405276 1 79084734 [A/G] rs1333969 1 79090654 [T/C] NM_006820 IFI44L Silent JHU_1.79091454 1 79091455 [A/G] NM_006820 IFI44L Silent 1:79093698-AC 1 79093698 [A/C] NM_006820 IFI44L EXON Missense_H33P variant.4406 1 79093705 [T/C] NM_006820 IFI44L EXON Synonymous_G35G exm70317 1 79093737 [A/G] NM_006820 IFI44L EXON Missense_R46H exm70318 1 79093776 [A/G] NM_006820 IFI44L EXON Missense_N59S 1:79093793-AG 1 79093793 [A/G] NM_006820 IFI44L EXON Missense_M65V exm70323 1 79093818 [A/G] NM_006820 IFI44L EXON Missense_H73R rs273259 1 79093818 [A/G] NM_006820 IFI44L EXON Missense_H73R exm70324 1 79093821 [A/G] NM_006820 IFI44L EXON Missense_E74G exm2233852 1 79093842 [T/A] NM_006820 IFI44L EXON Missense_D81V exm70327 1 79093910 [A/G] NM_006820 IFI44L EXON Missense_A104T exm70332 1 79093956 [T/C] NM_006820 IFI44L EXON Missense_T119M exm70336 1 79094042 [T/C] NM_006820 IFI44L EXON Missense_R148C rs147126504 1 79094069 [T/C] NM_006820 IFI44L EXON Nonsense_R157X newrs147126504 1 79094069 [T/C] NM_006820 IFI44L EXON Nonsense_R157X exm70338 1 79094079 [T/G] NM_006820 IFI44L Silent variant.4409 1 79095404 [A/G] NM_006820 IFI44L Silent exm70348 1 79095439 [T/C] NM_006820 IFI44L EXON Missense_Y188H exm70355 1 79095526 [A/G] NM_006820 IFI44L EXON Missense_V217I 1:79095557-GA 1 79095557 [A/G] NM_006820 IFI44L EXON Missense_G227D exm70358 1 79095565 [A/G] NM_006820 IFI44L EXON Missense_V230I exm70359 1 79095572 [A/G] NM_006820 IFI44L EXON Missense_G232E exm70360 1 79095581 [T/C] NM_006820 IFI44L EXON Missense_I235T 1:79095601-GA 1 79095601 [A/G] NM_006820 IFI44L Silent 1:79095682-AG 1 79095682 [A/G] NM_006820 IFI44L Silent 1:79095717-AG 1 79095717 [A/G] NM_006820 IFI44L Silent JHU_1.79096108 1 79096109 [T/G] NM_006820 IFI44L Silent rs78277846 1 79096379 [A/G] NM_006820 IFI44L Silent JHU_1.79099647 1 79099648 [A/G] NM_006820 IFI44L Silent 1:79101112-GA 1 79101112 [A/G] NM_006820 IFI44L EXON Missense_A272T exm70368 1 79101115 [A/G] NM_006820 IFI44L EXON Missense_G273R exm70369 1 79101116 [T/G] NM_006820 IFI44L EXON Missense_G273V exm70370 1 79101124 [A/G] NM_006820 IFI44L EXON Missense_M276V rs115901054 1 79101171 [A/T] NM_006820 IFI44L EXON Nonsense_Y291X exm70372 1 79101171 [A/T] NM_006820 IFI44L EXON Nonsense_Y291X exm70376 1 79102726 [T/C] NM_006820 IFI44L EXON Missense_R296C exm70377 1 79102727 [A/G] NM_006820 IFI44L EXON Missense_R296H JHU_1.79105305 1 79105306 [T/C] NM_006820 IFI44L Silent exm70380 1 79106745 [A/G] NM_006820 IFI44L EXON Missense_C363Y 1:79106777-CATGAGTAGATCT-C 1 79106777 [I/D] NM_006820 IFI44L EXON exm70381 1 79106805 [A/G] NM_006820 IFI44L EXON Missense_R383Q variant.4412 1 79106811 [A/G] NM_006820 IFI44L Silent exm70383 1 79107140 [T/G] NM_006820 IFI44L EXON Missense_M390I chr1_79107149 1 79107149 [T/G] NM_006820 IFI44L EXON Missense_I393M rs41305870 1 79107422 [A/G] NM_006820 IFI44L Silent indel.4415 1 79107461 [I/D] NM_006820 IFI44L EXON rs117498420 1 79107680 [A/G] NM_006820 IFI44L EXON Silent JHU_1.79110232 1 79110233 [T/C] NM_006820 IFI44L EXON Silent rs34589494 1 79110296 [A/G] NM_006820 IFI44L EXON Silent JHU_1.79111690 1 79111691 [A/G] NM_006820 IFI44L EXON Silent rs74592656 1 79114312 [T/C] rs10493610 1 79114494 [T/C] rs273250 1 79115306 [T/C] exm70399 1 79115897 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_R6H exm70400 1 79115905 [T/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_W9R 1:79115905-TC 1 79115905 [T/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_W9R indel.4416 1 79115915 [I/D] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON newrs142697926 1 79115926 [T/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Nonsense_Q16X exm70408 1 79115987 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_R36H 1:79116014-GA 1 79116014 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_C45Y exm70415 1 79116158 [T/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_G93V exm70416 1 79116169 [T/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_P97S Variant84 1 79116170 [I/D] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON exm70422 1 79116304 [T/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_S142A variant.4418 1 79116338 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 Silent,Silent,Silent JHU_1.79118701 1 79118702 [T/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 Silent,Silent,Silent JHU_1.79119232 1 79119233 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 Silent,Silent,Silent exm70434 1 79120788 [T/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_I195T indel.4419 1 79120807 [D/I] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON 1:79120841-CT 1 79120841 [T/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_H213Y indel.4420 1 79120856 [I/D] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON newrs141575882 1 79121045 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 Silent,Silent,Silent exm70445 1 79121048 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_Y231C exm70447 1 79121071 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_G239R variant.4422 1 79121131 [T/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Nonsense_E259X rs7514391 1 79123094 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 Silent,Silent,Silent rs145101494 1 79124827 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 Silent,Silent,Silent exm70459 1 79125064 [T/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_R303I chr1_79125114 1 79125114 [T/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_S320P exm70462 1 79125148 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_R331Q exm70463 1 79125154 [A/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_E333A indel.4424 1 79126291 [I/D] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON newrs141520096 1 79126339 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Synonymous_K371K exm70472 1 79128419 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_A382T variant.4426 1 79128458 [T/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Nonsense_E395X exm70475 1 79128488 [G/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_L405V exm70478 1 79128528 [A/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_D418A exm70481 1 79128557 [A/C] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 EXON Silent,Silent,Missense_Q428K rs77466068 1 79129198 [A/G] NR_135640,NR_135641,NM_006417 IFI44,IFI44,IFI44 Silent,Silent,Silent rs17102014 1 79130723 [A/G] rs6669498 1 79131805 [T/C] JHU_1.79134248 1 79134249 [T/C] rs6691836 1 79143192 [T/C] rs11162526 1 79144319 [T/C] rs80052899 1 79150700 [A/G] rs11804167 1 79152696 [A/G] rs117722322 1 79152864 [A/G] rs7524036 1 79158657 [A/C] rs74797867 1 79158884 [A/G] rs79687006 1 79168165 [T/C] rs78248827 1 79170073 [T/A] rs1926902 1 79171286 [T/G] rs4650376 1 79176868 [T/C] rs78428951 1 79180532 [A/G] rs1780748 1 79181290 [T/C] rs1780746 1 79182561 [A/G] 1:79184377-G-A 1 79184377 [A/G] rs17102104 1 79186150 [C/G] rs1751520 1 79188388 [A/G] rs17102156 1 79189154 [A/C] JHU_1.79190794 1 79190795 [A/C] JHU_1.79191384 1 79191385 [A/G] rs116206070 1 79191452 [T/C] JHU_1.79191717 1 79191718 [T/A] JHU_1.79191722 1 79191723 [T/A] rs4551552 1 79195469 [A/G] 1:79199116-A-C 1 79199116 [A/C] JHU_1.79202089 1 79202090 [A/T] rs113309560 1 79202090 [A/T] rs1751527 1 79202300 [T/C] JHU_1.79207659 1 79207660 [T/C] JHU_1.79208182 1 79208183 [A/G] JHU_1.79211494 1 79211495 [A/G] rs1751529 1 79214489 [A/G] rs1625911 1 79215225 [A/G] rs1926896 1 79217345 [T/C] JHU_1.79219112 1 79219113 [A/G] JHU_1.79223671 1 79223672 [T/A] rs1937020 1 79227956 [T/C] rs7521977 1 79233493 [T/C] rs4650608 1 79238015 [T/C] rs78598987 1 79243792 [A/T] rs76852576 1 79244908 [T/C] rs74794189 1 79245371 [T/G] rs114440458 1 79249325 [T/C] rs12730292 1 79254762 [G/C] rs1937009 1 79255347 [A/G] rs2352521 1 79256105 [T/C] rs146961574 1 79258159 [A/G] JHU_1.79260838 1 79260839 [T/G] rs72943478 1 79262085 [G/C] rs74878302 1 79262830 [T/C] JHU_1.79262829 1 79262830 [T/C] rs10873998 1 79263805 [T/C] JHU_1.79264225 1 79264226 [T/C] rs6681456 1 79265182 [T/G] rs12129565 1 79266405 [T/C] rs76501287 1 79268199 [A/G] rs75528562 1 79270993 [A/G] rs147668960 1 79272440 [C/G] rs145963390 1 79273762 [T/C] rs59022932 1 79273996 [A/G] rs6676466 1 79274028 [A/G] rs12406640 1 79274644 [T/G] rs145582019 1 79278019 [T/A] rs76253836 1 79280088 [A/G] rs4650610 1 79281968 [A/G] rs1937019 1 79282661 [T/C] 1:79285929-T-C 1 79285929 [T/C] JHU_1.79287521 1 79287522 [T/C] JHU_1.79293873 1 79293874 [T/C] JHU_1.79296068 1 79296069 [T/C] rs115078043 1 79298585 [T/C] 1:79298594-T-C 1 79298594 [T/C] rs41322946 1 79299087 [A/T] rs114715125 1 79299287 [A/C] exm2268710 1 79299411 [T/C] rs6695185 1 79299411 [T/C] rs4650380 1 79299679 [A/G] rs75142876 1 79301114 [A/G] rs74091636 1 79301708 [A/G] rs182785243 1 79302077 [A/G] rs72675821 1 79303906 [A/G] rs17102312 1 79307988 [A/G] JHU_1.79308983 1 79308984 [A/C] rs3012084 1 79309923 [A/G] JHU_1.79319632 1 79319633 [A/T] JHU_1.79319868 1 79319869 [T/G] JHU_1.79321254 1 79321255 [T/G] rs17102324 1 79322305 [T/C] rs141390628 1 79323172 [A/C] rs11162569 1 79324295 [T/C] rs111404835 1 79324986 [A/C] rs77642325 1 79325632 [T/G] rs72675830 1 79328086 [A/G] rs1586599 1 79328270 [T/C] rs2171714 1 79330525 [A/G] rs77946654 1 79331918 [T/C] rs3012079 1 79336164 [T/C] rs76195817 1 79337320 [T/C] rs931413 1 79348506 [A/C] rs182508675 1 79348720 [A/T] rs12037077 1 79350364 [T/G] rs147437574 1 79352805 [A/G] rs2882958 1 79353290 [A/G] rs1261980 1 79353655 [A/G] exm70490 1 79357360 [G/C] NM_022159 ADGRL4 EXON Missense_A620G JHU_1.79357783 1 79357784 [A/G] NM_022159 ADGRL4 Silent exm70492 1 79358811 [A/G] NM_022159 ADGRL4 EXON Missense_P605S exm70494 1 79358827 [T/G] NM_022159 ADGRL4 EXON Missense_H599Q rs1248480 1 79359239 [T/C] NM_022159 ADGRL4 Silent rs58618461 1 79360784 [A/G] NM_022159 ADGRL4 Silent rs12097241 1 79368685 [A/C] NM_022159 ADGRL4 Silent rs375682340 1 79368724 [A/G] NM_022159 ADGRL4 Silent JHU_1.79369083 1 79369084 [A/G] NM_022159 ADGRL4 Silent rs7552978 1 79380466 [A/G] NM_022159 ADGRL4 Silent rs1489400 1 79382009 [A/C] NM_022159 ADGRL4 Silent rs977915 1 79382535 [T/C] NM_022159 ADGRL4 Silent exm70503 1 79383554 [A/G] NM_022159 ADGRL4 EXON Missense_S548L 1:79383711-GT 1 79383711 [T/G] NM_022159 ADGRL4 EXON Missense_L496M JHU_1.79383765 1 79383766 [T/G] NM_022159 ADGRL4 Silent exm70515 1 79385958 [T/G] NM_022159 ADGRL4 EXON Missense_S457R exm70516 1 79385972 [T/G] NM_022159 ADGRL4 EXON Missense_S453R exm70519 1 79386047 [T/C] NM_022159 ADGRL4 EXON Missense_T428A exm70520 1 79387320 [A/C] NM_022159 ADGRL4 EXON Missense_L412W exm70521 1 79387350 [T/C] NM_022159 ADGRL4 EXON Missense_R402H exm70525 1 79387410 [T/C] NM_022159 ADGRL4 EXON Missense_G382D 1:79387455-CT 1 79387455 [T/C] NM_022159 ADGRL4 EXON Missense_R367K 1:79387473-TC 1 79387473 [T/C] NM_022159 ADGRL4 Silent var_1_79392576 1 79392576 [A/G] NM_022159 ADGRL4 EXON Nonsense_R360X 1:79392611-TG 1 79392611 [T/G] NM_022159 ADGRL4 EXON Missense_Y348S 1:79392632-CA 1 79392632 [A/C] NM_022159 ADGRL4 EXON Missense_S341I exm70530 1 79392731 [A/G] NM_022159 ADGRL4 EXON Missense_L308S exm70533 1 79392756 [A/C] NM_022159 ADGRL4 EXON Missense_V300L rs12754818 1 79392756 [A/C] NM_022159 ADGRL4 EXON Missense_V300L 1:79401998-CA 1 79401998 [A/C] NM_022159 ADGRL4 EXON Missense_A287S Variant38024 1 79402017 [A/G] NM_022159 ADGRL4 EXON Synonymous_N280N exm70541 1 79402069 [T/C] NM_022159 ADGRL4 EXON Missense_Y263C exm70547 1 79403660 [T/C] NM_022159 ADGRL4 EXON Missense_V198M variant.4433 1 79403780 [T/C] NM_022159 ADGRL4 Silent exm70550 1 79403796 [A/G] NM_022159 ADGRL4 EXON Missense_S189P 1:79403948-TC 1 79403948 [T/C] NM_022159 ADGRL4 EXON Missense_E138G exm70559 1 79404913 [T/G] NM_022159 ADGRL4 EXON Missense_N119T rs1906832 1 79408719 [T/C] NM_022159 ADGRL4 Silent rs723898 1 79411888 [T/C] NM_022159 ADGRL4 Silent exm70562 1 79411968 [A/C] NM_022159 ADGRL4 EXON Missense_V106F 1:79412073-CT 1 79412073 [T/C] NM_022159 ADGRL4 EXON Missense_E71K rs114393043 1 79414115 [T/G] NM_022159 ADGRL4 Silent rs1489391 1 79419229 [T/C] NM_022159 ADGRL4 Silent rs17413911 1 79419439 [T/C] NM_022159 ADGRL4 Silent JHU_1.79429472 1 79429473 [C/G] NM_022159 ADGRL4 Silent rs113506147 1 79429730 [T/G] NM_022159 ADGRL4 Silent rs12120090 1 79432703 [T/C] NM_022159 ADGRL4 Silent JHU_1.79434187 1 79434188 [T/G] NM_022159 ADGRL4 Silent rs7534310 1 79439662 [T/G] NM_022159 ADGRL4 Silent JHU_1.79440740 1 79440741 [A/G] NM_022159 ADGRL4 Silent rs76917603 1 79441774 [T/G] NM_022159 ADGRL4 Silent JHU_1.79442489 1 79442490 [A/T] NM_022159 ADGRL4 Silent JHU_1.79446931 1 79446932 [A/C] NM_022159 ADGRL4 Silent rs7527803 1 79451015 [A/G] NM_022159 ADGRL4 Silent JHU_1.79453060 1 79453061 [T/G] NM_022159 ADGRL4 Silent rs7540635 1 79454861 [T/G] NM_022159 ADGRL4 Silent JHU_1.79455162 1 79455163 [A/T] NM_022159 ADGRL4 Silent rs6685355 1 79458347 [A/C] NM_022159 ADGRL4 Silent rs6424622 1 79458786 [T/G] NM_022159 ADGRL4 Silent rs12073624 1 79463156 [A/G] NM_022159 ADGRL4 Silent rs116756256 1 79463496 [A/G] NM_022159 ADGRL4 Silent rs1360578 1 79464595 [G/C] NM_022159 ADGRL4 Silent JHU_1.79465527 1 79465528 [T/C] NM_022159 ADGRL4 Silent rs6691602 1 79465823 [G/C] NM_022159 ADGRL4 Silent JHU_1.79466927 1 79466928 [A/G] NM_022159 ADGRL4 Silent 1:79470755-CT 1 79470755 [T/C] NM_022159 ADGRL4 EXON Missense_D58N exm70566 1 79470788 [T/C] NM_022159 ADGRL4 EXON Missense_G47R 1:79470820-CT 1 79470820 [T/C] NM_022159 ADGRL4 EXON Missense_R36H 1:79470895-GA 1 79470895 [A/G] NM_022159 ADGRL4 EXON Missense_S11F rs1571991 1 79471959 [T/G] NM_022159 ADGRL4 Silent rs115193786 1 79472176 [T/C] NM_022159 ADGRL4 Silent rs1412730 1 79473087 [T/C] rs4650631 1 79476307 [A/C] JHU_1.79476816 1 79476817 [A/G] rs74397387 1 79478993 [A/C] JHU_1.79481956 1 79481957 [A/G] rs2065486 1 79482417 [A/G] rs12406049 1 79484287 [A/G] rs114749687 1 79484841 [T/C] JHU_1.79485941 1 79485942 [A/C] rs6424626 1 79487080 [T/C] rs17838080 1 79488181 [A/G] rs6691975 1 79490302 [A/C] JHU_1.79494972 1 79494973 [A/G] JHU_1.79495127 1 79495128 [C/G] rs7544022 1 79495184 [T/C] JHU_1.79495183 1 79495184 [T/C] rs113826821 1 79496557 [A/G] rs1831704 1 79501129 [A/G] rs75478196 1 79502418 [T/C] rs148438722 1 79502423 [A/G] rs139773976 1 79506674 [T/G] rs74726984 1 79507599 [T/G] rs1332819 1 79507828 [T/C] JHU_1.79508726 1 79508727 [A/G] rs6687262 1 79509109 [T/C] rs61768993 1 79510090 [T/C] rs11810852 1 79512065 [A/C] JHU_1.79512224 1 79512225 [A/G] JHU_1.79514368 1 79514369 [A/T] JHU_1.79516099 1 79516100 [A/T] rs143893807 1 79517722 [A/T] rs17102673 1 79518810 [A/G] rs11162607 1 79523223 [T/C] JHU_1.79523339 1 79523340 [A/C] rs4650387 1 79523635 [T/C] rs72678119 1 79524970 [A/C] rs370948687 1 79528863 [T/G] rs61769007 1 79537722 [A/C] rs1906281 1 79539394 [A/G] rs56844872 1 79539907 [A/T] JHU_1.79540485 1 79540486 [A/G] JHU_1.79546498 1 79546499 [A/C] rs74633759 1 79547506 [A/T] rs1571993 1 79549699 [T/C] rs12760876 1 79550278 [A/C] rs1157230 1 79550458 [A/G] rs10874010 1 79552777 [A/G] JHU_1.79553220 1 79553221 [T/C] JHU_1.79554262 1 79554263 [T/C] rs61769012 1 79555223 [A/G] rs11808377 1 79555869 [A/G] rs7531214 1 79556037 [T/C] JHU_1.79556968 1 79556969 [C/G] rs55993474 1 79557392 [A/T] rs1154959 1 79561265 [T/G] rs6424633 1 79566969 [A/G] rs75870575 1 79567187 [T/C] JHU_1.79569850 1 79569851 [T/C] rs12097617 1 79571617 [A/G] JHU_1.79575641 1 79575642 [A/C] JHU_1.79577998 1 79577999 [A/G] rs10874016 1 79580281 [T/C] JHU_1.79582089 1 79582090 [A/G] JHU_1.79582110 1 79582111 [A/G] JHU_1.79582606 1 79582607 [T/C] JHU_1.79582948 1 79582949 [T/C] JHU_1.79583029 1 79583030 [T/G] rs58975184 1 79583102 [T/C] rs12117879 1 79583771 [T/G] JHU_1.79584038 1 79584039 [T/C] rs17408603 1 79587385 [A/C] rs1332815 1 79587630 [T/C] exm2264863 1 79591801 [A/G] JHU_1.79591931 1 79591932 [A/C] rs17102812 1 79593296 [T/C] JHU_1.79594344 1 79594345 [T/A] rs17102815 1 79594565 [A/G] rs6690294 1 79595722 [T/C] rs17102821 1 79595821 [T/C] JHU_1.79603002 1 79603003 [C/G] rs72678161 1 79604888 [T/C] rs2046622 1 79610143 [A/G] rs2046623 1 79610214 [T/C] JHU_1.79611650 1 79611651 [A/C] rs17102848 1 79612077 [A/G] 1:79614710-A-T 1 79614710 [A/T] rs1555385 1 79614989 [T/G] JHU_1.79619037 1 79619038 [A/G] JHU_1.79619892 1 79619893 [T/C] rs1906282 1 79633067 [T/G] rs11162651 1 79633768 [A/G] rs1466613 1 79637326 [T/C] rs72678193 1 79639278 [T/C] JHU_1.79639833 1 79639834 [G/C] rs76071559 1 79641290 [A/G] JHU_1.79646076 1 79646077 [T/G] rs228563 1 79646219 [A/C] JHU_1.79649858 1 79649859 [G/C] JHU_1.79650658 1 79650659 [T/C] rs10489655 1 79653433 [A/C] rs78160513 1 79655152 [T/C] rs5008836 1 79658861 [A/G] kgp10712530 1 79659418 [T/C] rs76083244 1 79661532 [T/A] rs150012483 1 79664387 [A/G] rs77726022 1 79664976 [A/C] rs228535 1 79666153 [A/C] JHU_1.79667489 1 79667490 [A/G] JHU_1.79668615 1 79668616 [A/C] rs12091759 1 79669122 [T/C] rs150949149 1 79669324 [A/G] rs139209666 1 79673451 [A/G] 1:79676281-G-A 1 79676281 [A/G] rs35189396 1 79676806 [A/G] JHU_1.79678449 1 79678450 [T/C] rs75965990 1 79681153 [A/C] JHU_1.79689555 1 79689556 [T/A] rs182308328 1 79690940 [A/G] rs79235224 1 79694444 [T/G] JHU_1.79697027 1 79697028 [A/G] rs116515587 1 79698099 [A/C] rs149318513 1 79709498 [T/C] exm2265022 1 79709724 [A/G] rs417181 1 79710545 [A/G] rs12027746 1 79711511 [T/C] JHU_1.79712037 1 79712038 [A/G] JHU_1.79715647 1 79715648 [A/G] rs4650401 1 79717399 [T/C] rs6698128 1 79720946 [A/G] rs6674681 1 79721123 [T/C] rs143183634 1 79728533 [T/C] rs10158555 1 79729175 [A/G] rs12027436 1 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JHU_1.80597857 1 80597858 [T/C] JHU_1.80609116 1 80609117 [T/A] rs192203813 1 80613033 [A/G] rs74097189 1 80613336 [A/C] rs79457278 1 80623477 [A/C] rs75245515 1 80629255 [A/T] rs4330881 1 80631231 [A/G] JHU_1.80634466 1 80634467 [A/G] rs10874118 1 80638947 [A/G] rs74097005 1 80641010 [A/G] rs7521092 1 80644813 [A/C] rs79839704 1 80647491 [A/G] rs139238882 1 80651339 [A/C] rs17104471 1 80653552 [A/G] rs141839884 1 80653746 [A/G] rs79033828 1 80654236 [T/A] rs4310401 1 80656114 [A/G] rs75123914 1 80656940 [A/G] rs4375210 1 80659876 [T/C] JHU_1.80660012 1 80660013 [A/G] JHU_1.80661857 1 80661858 [A/C] rs10782721 1 80662635 [A/C] rs10782722 1 80662898 [A/G] rs76812354 1 80669710 [T/C] JHU_1.80671085 1 80671086 [T/C] rs2841636 1 80673570 [A/G] JHU_1.80674502 1 80674503 [A/G] rs77274860 1 80674552 [A/G] rs6668801 1 80675086 [T/C] JHU_1.80678485 1 80678486 [A/T] rs60846596 1 80679950 [A/G] JHU_1.80680591 1 80680592 [T/A] rs58643406 1 80682809 [C/G] rs952603 1 80683606 [A/G] JHU_1.80684099 1 80684100 [T/G] JHU_1.80684659 1 80684660 [A/G] rs1687846 1 80685710 [T/C] rs150366119 1 80686694 [T/C] rs1776308 1 80687680 [A/C] rs76263574 1 80688137 [T/C] rs72673621 1 80688450 [T/C] JHU_1.80689436 1 80689437 [A/G] JHU_1.80693778 1 80693779 [A/G] JHU_1.80694230 1 80694231 [A/G] rs2211432 1 80694377 [T/C] rs61773558 1 80700582 [A/G] rs1776325 1 80703306 [A/G] JHU_1.80704686 1 80704687 [A/G] JHU_1.80704703 1 80704704 [T/C] rs117902867 1 80705828 [T/G] rs3014988 1 80706577 [A/G] JHU_1.80707594 1 80707595 [T/A] rs79986447 1 80709703 [A/G] rs77675574 1 80714046 [T/C] rs61772864 1 80715362 [T/C] rs78006506 1 80715965 [A/C] rs11162962 1 80717516 [T/C] rs12563768 1 80719769 [A/G] rs1539486 1 80722041 [A/G] rs114209658 1 80723455 [A/G] JHU_1.80729517 1 80729518 [A/T] rs12125715 1 80731568 [A/G] rs12138716 1 80733488 [A/C] rs11162963 1 80734581 [T/C] rs7529438 1 80735096 [A/G] JHU_1.80737856 1 80737857 [A/G] rs1776286 1 80741898 [A/C] rs72673648 1 80741969 [T/C] rs12144659 1 80744080 [T/C] JHU_1.80746669 1 80746670 [T/C] rs1776290 1 80749361 [A/G] rs115534192 1 80755998 [T/C] rs1776326 1 80757450 [A/G] rs17104602 1 80758961 [A/G] JHU_1.80759354 1 80759355 [G/C] JHU_1.80763754 1 80763755 [T/C] rs79536900 1 80763793 [A/C] rs4559450 1 80767655 [T/C] rs1937791 1 80770605 [T/C] rs67296414 1 80774393 [A/G] rs74097530 1 80783928 [T/C] rs72673668 1 80784020 [A/G] rs140499287 1 80785100 [T/A] rs112346145 1 80786652 [T/C] rs75025147 1 80790310 [A/G] rs2154298 1 80791787 [A/G] rs115097170 1 80791904 [G/C] rs74808119 1 80792265 [T/C] rs12065553 1 80793118 [A/G] JHU_1.80798666 1 80798667 [T/C] JHU_1.80799297 1 80799298 [A/G] rs2389024 1 80805845 [T/C] JHU_1.80806356 1 80806357 [T/C] rs116057866 1 80808157 [A/C] rs75209682 1 80808346 [A/G] JHU_1.80811779 1 80811780 [A/C] JHU_1.80818252 1 80818253 [A/G] rs12118987 1 80818530 [T/C] JHU_1.80821352 1 80821353 [A/G] rs3014987 1 80823037 [T/C] rs12240077 1 80824657 [A/G] rs10158964 1 80825083 [T/G] rs58679207 1 80831077 [T/C] rs74516668 1 80835072 [A/G] rs1687812 1 80835085 [A/G] JHU_1.80836955 1 80836956 [A/G] rs2997195 1 80838880 [T/C] rs1937787 1 80839278 [T/C] JHU_1.80844200 1 80844201 [A/T] rs17104735 1 80846304 [T/C] JHU_1.80848357 1 80848358 [A/G] JHU_1.80848364 1 80848365 [T/C] rs78112263 1 80852037 [T/G] rs12563780 1 80854470 [T/C] JHU_1.80856322 1 80856323 [T/C] rs1549555 1 80858466 [A/G] rs75489945 1 80866556 [A/G] rs139384119 1 80866805 [A/G] JHU_1.80867322 1 80867323 [T/C] rs10518645 1 80867324 [A/G] rs76449879 1 80868057 [T/G] rs6680065 1 80869734 [T/C] JHU_1.80870447 1 80870448 [T/C] JHU_1.80870448 1 80870449 [A/G] rs115806464 1 80870647 [C/G] rs17390593 1 80876340 [A/C] rs116758999 1 80877543 [T/G] rs78488101 1 80881667 [T/C] rs4650458 1 80881727 [A/G] rs141180317 1 80882990 [A/G] JHU_1.80884001 1 80884002 [T/C] rs1896251 1 80888808 [T/C] rs1427239 1 80892408 [T/C] rs75754856 1 80893671 [A/C] rs12045166 1 80894499 [T/G] rs12094160 1 80898743 [T/G] rs61772940 1 80908080 [T/C] JHU_1.80908147 1 80908148 [A/G] exm2265023 1 80908796 [A/G] rs12118390 1 80911114 [A/G] JHU_1.80911481 1 80911482 [A/G] 1:80915779-T-A 1 80915779 [T/A] rs79937414 1 80916892 [A/T] rs76830842 1 80918973 [A/G] rs1365751 1 80919437 [T/C] JHU_1.80920754 1 80920755 [T/G] rs56125823 1 80922158 [A/G] rs141395209 1 80923732 [A/G] rs137954906 1 80924118 [T/G] rs7534877 1 80927348 [C/G] JHU_1.80928554 1 80928555 [A/G] JHU_1.80928598 1 80928599 [A/G] rs1365750 1 80929598 [A/G] rs78216039 1 80930445 [A/G] rs12076465 1 80932981 [A/G] JHU_1.80934472 1 80934473 [A/G] rs72935339 1 80936719 [T/G] JHU_1.80937583 1 80937584 [T/C] rs1155549 1 80944604 [A/G] rs11576147 1 80946764 [T/C] rs4650467 1 80953659 [T/C] JHU_1.80953814 1 80953815 [A/G] rs116662679 1 80955408 [T/C] JHU_1.80955492 1 80955493 [A/C] rs718003 1 80956319 [T/C] JHU_1.80956818 1 80956819 [T/C] JHU_1.80957326 1 80957327 [A/G] JHU_1.80959697 1 80959698 [T/G] JHU_1.80960101 1 80960102 [A/G] rs118133174 1 80960249 [A/G] rs112579768 1 80961584 [A/G] rs2303531 1 80961685 [A/G] rs10493666 1 80964490 [A/G] rs17104891 1 80965281 [A/G] rs184812 1 80970978 [A/G] rs1593679 1 80977160 [T/G] rs356287 1 80977963 [A/G] JHU_1.80985863 1 80985864 [A/C] rs17104916 1 80985935 [A/C] JHU_1.80988968 1 80988969 [T/C] rs12031162 1 80989370 [T/G] JHU_1.80989529 1 80989530 [T/A] JHU_1.80991779 1 80991780 [A/G] JHU_1.80992384 1 80992385 [T/C] rs356295 1 80993368 [A/C] rs12070796 1 80997745 [A/G] rs12082310 1 81000059 [A/C] JHU_1.81001092 1 81001093 [A/C] rs12566681 1 81001272 [T/C] rs72937344 1 81002167 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs76181754 1 81004134 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs11163045 1 81004543 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs143143186 1 81004799 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81007241 1 81007242 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81009218 1 81009219 [T/A] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs74476360 1 81018552 [T/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs192926281 1 81019510 [A/T] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs145697936 1 81021461 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81024268 1 81024269 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs11589194 1 81025403 [C/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81025560 1 81025561 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs144074417 1 81025561 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs74098359 1 81025642 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs2389057 1 81027980 [A/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs10874140 1 81028590 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs17105038 1 81028941 [A/T] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81029229 1 81029230 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81030114 1 81030115 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs17398889 1 81031454 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81031621 1 81031622 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs10218461 1 81035676 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81038058 1 81038059 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81038909 1 81038910 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs11163055 1 81038969 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs11163056 1 81039056 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81039154 1 81039155 [T/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs74098384 1 81047134 [A/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs191898419 1 81050316 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs138022169 1 81050582 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs17105114 1 81056073 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81057656 1 81057657 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs72678215 1 81059213 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs10874145 1 81059253 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81069682 1 81069683 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs1279686 1 81070850 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs72933049 1 81071300 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs1279688 1 81071433 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs61771187 1 81075036 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs7556395 1 81085263 [T/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs6658764 1 81085999 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs7552365 1 81087175 [A/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81087825 1 81087826 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent JHU_1.81090126 1 81090127 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs2800878 1 81090382 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs143166435 1 81095177 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs17105153 1 81096254 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs145837712 1 81098268 [T/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs7534397 1 81100061 [A/T] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs7522218 1 81102914 [A/C] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs116303961 1 81103143 [T/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs1279692 1 81103206 [T/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs60001047 1 81106442 [A/G] NR_125941,NR_125940 LINC01781,LINC01781 Silent,Silent rs17105178 1 81114202 [T/C] rs57342821 1 81116821 [G/C] rs74449659 1 81117860 [A/G] rs17105223 1 81120474 [T/G] rs1279690 1 81130054 [T/C] rs12033175 1 81132343 [A/G] rs17400619 1 81133813 [A/G] rs17105288 1 81137243 [A/G] rs12035797 1 81137567 [T/G] rs6688321 1 81140382 [A/G] rs6677251 1 81140384 [A/G] rs10493675 1 81143121 [A/G] rs6675411 1 81144507 [T/C] rs1415281 1 81145829 [A/G] JHU_1.81146297 1 81146298 [T/C] rs17105362 1 81146974 [A/G] rs80337537 1 81147170 [A/G] JHU_1.81148837 1 81148838 [T/C] JHU_1.81150621 1 81150622 [A/G] JHU_1.81155520 1 81155521 [T/G] rs6698422 1 81156483 [T/C] rs17105408 1 81157390 [A/C] rs115374787 1 81158697 [T/C] JHU_1.81159035 1 81159036 [T/C] rs78135754 1 81159046 [T/C] rs841668 1 81159163 [T/C] rs80350898 1 81159295 [T/C] JHU_1.81160411 1 81160412 [A/T] rs60563493 1 81160529 [A/T] rs1832331 1 81161337 [T/C] JHU_1.81162486 1 81162487 [T/C] rs1337642 1 81164242 [T/C] rs12047545 1 81164999 [T/C] rs17401938 1 81170156 [T/C] JHU_1.81173320 1 81173321 [A/G] rs1591678 1 81176850 [A/G] rs841666 1 81177525 [T/C] rs74385458 1 81179873 [T/A] rs11163090 1 81181741 [T/C] rs79697113 1 81183755 [A/C] rs114956866 1 81187260 [T/C] rs2152856 1 81188002 [T/C] rs115105111 1 81190077 [T/A] JHU_1.81190090 1 81190091 [A/C] rs17105462 1 81192795 [A/C] JHU_1.81193636 1 81193637 [A/G] rs1337638 1 81195339 [T/C] rs77623896 1 81196930 [T/C] rs12566647 1 81202219 [A/G] rs4414082 1 81202427 [T/C] rs1765453 1 81208191 [A/G] JHU_1.81209923 1 81209924 [A/G] JHU_1.81211408 1 81211409 [A/G] rs6692988 1 81212467 [T/G] rs10874168 1 81214749 [A/G] rs28827557 1 81217834 [T/C] rs6660382 1 81222277 [A/G] rs116820257 1 81223972 [T/C] rs2389064 1 81224207 [A/G] rs182191036 1 81224650 [T/C] JHU_1.81227028 1 81227029 [A/G] rs11163106 1 81227145 [T/C] rs6661452 1 81229863 [T/C] JHU_1.81231453 1 81231454 [T/G] JHU_1.81231877 1 81231878 [A/T] rs12120655 1 81232434 [T/G] rs2147082 1 81234465 [A/G] rs114885407 1 81234587 [T/C] rs945867 1 81235436 [A/G] rs75317879 1 81240395 [A/G] rs114618747 1 81240468 [T/C] rs145009263 1 81241221 [T/C] JHU_1.81242842 1 81242843 [A/C] rs79735148 1 81243549 [T/C] rs6678418 1 81246130 [A/G] rs114001230 1 81249683 [A/C] rs2147085 1 81259137 [A/G] JHU_1.81261170 1 81261171 [A/G] JHU_1.81264058 1 81264059 [T/C] rs2892673 1 81266003 [A/C] 1:81266389-C-G 1 81266389 [C/G] JHU_1.81266627 1 81266628 [A/G] JHU_1.81268810 1 81268811 [A/C] JHU_1.81269326 1 81269327 [T/C] rs114429386 1 81271372 [T/C] rs61770053 1 81279198 [T/C] rs4650487 1 81280310 [T/C] rs56286544 1 81282174 [A/G] rs10874175 1 81282234 [T/C] JHU_1.81285325 1 81285326 [T/C] rs76538246 1 81286965 [T/G] rs138944895 1 81286966 [T/C] JHU_1.81290364 1 81290365 [T/C] JHU_1.81290369 1 81290370 [T/G] JHU_1.81291274 1 81291275 [T/G] JHU_1.81291275 1 81291276 [T/G] rs112169138 1 81300548 [T/G] JHU_1.81300553 1 81300554 [A/G] JHU_1.81300583 1 81300584 [T/G] JHU_1.81300847 1 81300848 [T/G] JHU_1.81302686 1 81302687 [T/A] rs7525576 1 81303674 [T/G] JHU_1.81307873 1 81307874 [T/C] rs61768679 1 81311581 [T/C] rs17105538 1 81315043 [A/G] rs10874177 1 81316894 [T/C] rs115047705 1 81317661 [T/C] rs1338145 1 81317902 [T/C] rs117950304 1 81320078 [A/G] rs188157825 1 81321996 [T/C] JHU_1.81322521 1 81322522 [A/G] rs139783682 1 81325477 [A/C] rs4650353 1 81329765 [A/G] rs78831788 1 81330594 [T/C] JHU_1.81331619 1 81331620 [T/C] rs142131957 1 81332735 [T/C] JHU_1.81333318 1 81333319 [A/G] rs17105542 1 81336283 [T/G] rs187116597 1 81337459 [A/C] rs12091192 1 81342872 [A/G] rs1338139 1 81343787 [T/C] rs6659760 1 81345264 [A/G] rs148147943 1 81346259 [T/C] rs116435869 1 81349637 [G/C] rs4650491 1 81352249 [T/G] JHU_1.81352478 1 81352479 [A/G] rs74092021 1 81354191 [A/G] rs79528163 1 81354444 [A/T] JHU_1.81354779 1 81354780 [T/G] JHU_1.81354791 1 81354792 [C/G] JHU_1.81354843 1 81354844 [A/G] JHU_1.81354859 1 81354860 [A/G] JHU_1.81354927 1 81354928 [A/C] JHU_1.81355077 1 81355078 [C/G] JHU_1.81355241 1 81355242 [C/G] JHU_1.81355411 1 81355412 [A/G] JHU_1.81355500 1 81355501 [T/C] rs114372755 1 81355714 [T/C] JHU_1.81355841 1 81355842 [T/C] JHU_1.81356161 1 81356162 [T/C] JHU_1.81356654 1 81356655 [T/C] rs2152984 1 81359115 [A/G] rs12130341 1 81359119 [T/C] rs17412127 1 81362063 [A/G] JHU_1.81362307 1 81362308 [T/G] rs17105652 1 81363645 [T/G] rs17403661 1 81364676 [T/G] JHU_1.81366256 1 81366257 [A/G] rs142692299 1 81373118 [T/C] rs137963771 1 81373640 [T/G] rs4650355 1 81376282 [T/C] rs1338128 1 81378292 [A/G] rs1544147 1 81382867 [A/G] rs12065935 1 81383300 [A/G] rs1933329 1 81386389 [A/G] rs141378293 1 81390576 [T/C] JHU_1.81390575 1 81390576 [T/C] rs17404860 1 81392896 [T/A] rs1338137 1 81392951 [T/G] JHU_1.81397120 1 81397121 [A/T] JHU_1.81398342 1 81398343 [A/G] rs114725387 1 81399292 [T/C] rs72680580 1 81399481 [T/C] rs10874182 1 81401098 [T/C] rs79067050 1 81401295 [A/C] rs12141654 1 81401784 [T/C] rs12566435 1 81401925 [A/G] rs11584782 1 81403002 [T/G] rs4307601 1 81411025 [A/G] rs12409530 1 81420940 [T/C] JHU_1.81422452 1 81422453 [T/C] rs113474033 1 81425268 [A/C] JHU_1.81425348 1 81425349 [T/G] rs11163165 1 81427862 [T/C] JHU_1.81430691 1 81430692 [T/G] rs6694777 1 81436522 [T/G] rs72940701 1 81438392 [A/G] rs75230843 1 81442516 [A/G] JHU_1.81446038 1 81446039 [A/G] rs4077887 1 81447213 [A/G] rs1863618 1 81450244 [A/G] JHU_1.81451220 1 81451221 [T/C] rs79975725 1 81451221 [T/C] rs12125632 1 81451748 [A/G] rs79314084 1 81452590 [T/C] rs10874192 1 81452990 [A/G] rs77324687 1 81453569 [T/C] JHU_1.81454183 1 81454184 [A/G] JHU_1.81454222 1 81454223 [T/C] rs115321305 1 81455129 [T/G] rs10782744 1 81455877 [A/G] rs12035704 1 81455918 [T/C] rs77085713 1 81457470 [A/G] rs11163180 1 81458203 [A/G] JHU_1.81458606 1 81458607 [A/G] rs74712659 1 81459217 [A/G] rs4087865 1 81460017 [G/C] rs77950392 1 81460440 [A/G] rs11163181 1 81462249 [T/C] JHU_1.81462330 1 81462331 [T/C] JHU_1.81462550 1 81462551 [T/G] JHU_1.81464502 1 81464503 [T/G] rs12725269 1 81466227 [T/C] JHU_1.81467283 1 81467284 [T/C] JHU_1.81467784 1 81467785 [A/C] rs11163182 1 81469162 [T/C] rs188788861 1 81469738 [A/C] rs34026797 1 81471396 [A/C] rs12723074 1 81471586 [T/G] rs1426780 1 81473999 [A/C] rs12043929 1 81474889 [T/C] JHU_1.81478368 1 81478369 [A/G] rs76300255 1 81482568 [A/G] rs12041774 1 81482945 [T/C] JHU_1.81482958 1 81482959 [T/C] JHU_1.81483188 1 81483189 [A/C] JHU_1.81483545 1 81483546 [T/A] rs76532145 1 81485262 [T/C] JHU_1.81487747 1 81487748 [T/C] JHU_1.81487892 1 81487893 [A/G] rs2042750 1 81488624 [A/G] rs12045987 1 81490037 [A/G] JHU_1.81490036 1 81490037 [A/G] JHU_1.81490364 1 81490365 [T/C] JHU_1.81490608 1 81490609 [T/G] JHU_1.81490707 1 81490708 [T/C] JHU_1.81490873 1 81490874 [T/A] rs2162393 1 81491983 [A/G] rs144695556 1 81492907 [T/A] JHU_1.81494443 1 81494444 [A/G] rs76025475 1 81496373 [T/A] rs80156744 1 81497001 [T/C] JHU_1.81499780 1 81499781 [T/C] rs75975378 1 81500050 [T/G] rs149288286 1 81502114 [T/G] JHU_1.81504812 1 81504813 [T/A] rs2389081 1 81506556 [A/G] JHU_1.81510851 1 81510852 [A/C] JHU_1.81512918 1 81512919 [T/C] rs72944355 1 81513574 [A/C] JHU_1.81513584 1 81513585 [A/G] rs80051007 1 81514672 [T/C] rs3897940 1 81514935 [A/G] rs949825 1 81514966 [T/C] rs1426782 1 81516862 [A/G] rs78611267 1 81517654 [C/G] rs1426783 1 81518782 [A/C] JHU_1.81521416 1 81521417 [A/T] rs79883935 1 81522252 [T/C] JHU_1.81524135 1 81524136 [T/A] JHU_1.81527435 1 81527436 [A/C] JHU_1.81528099 1 81528100 [T/C] rs17105841 1 81528413 [A/G] rs74093838 1 81529843 [C/G] rs11583080 1 81530739 [T/C] rs111539599 1 81530841 [T/C] rs12035114 1 81530976 [A/T] JHU_1.81534011 1 81534012 [G/C] rs10782747 1 81536949 [T/C] rs11163192 1 81540435 [A/T] rs143400287 1 81541916 [T/C] rs78913394 1 81546897 [A/C] rs76547981 1 81547822 [T/G] rs77146683 1 81548926 [T/C] rs140424070 1 81555710 [T/C] rs145848001 1 81558230 [A/G] rs147663288 1 81558696 [A/G] rs74091683 1 81560471 [A/G] rs72946457 1 81560995 [T/G] rs575528 1 81563249 [A/G] rs1146423 1 81566623 [T/C] JHU_1.81574594 1 81574595 [A/G] rs80052237 1 81574988 [T/C] rs3904061 1 81576079 [T/C] JHU_1.81578031 1 81578032 [A/G] rs72946502 1 81578925 [A/G] rs116626293 1 81580942 [T/G] JHU_1.81581150 1 81581151 [T/C] JHU_1.81581707 1 81581708 [T/C] JHU_1.81582325 1 81582326 [G/C] JHU_1.81584524 1 81584525 [T/G] rs199995469 1 81584860 [T/G] rs80147659 1 81589754 [A/G] rs151162611 1 81590722 [T/C] rs1768400 1 81591135 [A/G] rs1752212 1 81592966 [A/G] rs17406922 1 81593406 [A/G] rs17470421 1 81598076 [T/C] rs1146413 1 81599140 [A/G] rs149324168 1 81600175 [T/C] rs116475826 1 81601180 [T/C] rs74092855 1 81603516 [T/C] rs17106034 1 81609864 [T/C] rs17106044 1 81610300 [T/C] JHU_1.81613110 1 81613111 [T/G] rs1327712 1 81614826 [A/C] JHU_1.81615115 1 81615116 [A/G] rs112818524 1 81615510 [A/G] rs80110678 1 81616393 [A/G] rs1195685 1 81617971 [A/G] JHU_1.81618206 1 81618207 [T/C] rs74092875 1 81622511 [T/C] JHU_1.81625228 1 81625229 [A/G] rs200999485 1 81625229 [A/G] rs3908548 1 81633378 [A/G] JHU_1.81633898 1 81633899 [A/T] rs28719930 1 81634625 [C/G] rs1831109 1 81639173 [T/C] JHU_1.81639506 1 81639507 [A/G] JHU_1.81641030 1 81641031 [G/C] rs77967216 1 81648558 [T/C] rs7552088 1 81652040 [A/G] rs41436852 1 81653391 [T/A] JHU_1.81657404 1 81657405 [A/G] 1:81657464-C-G 1 81657464 [C/G] rs7525974 1 81657547 [T/C] rs66482844 1 81659652 [T/C] JHU_1.81660178 1 81660179 [A/G] rs56803906 1 81660773 [T/G] rs77102828 1 81661320 [T/C] rs78653314 1 81661430 [A/G] rs12565210 1 81661538 [A/G] JHU_1.81663646 1 81663647 [T/C] rs149168100 1 81664514 [T/G] rs2225966 1 81668315 [T/G] rs11163209 1 81668569 [T/C] rs17106149 1 81671841 [T/C] rs1195858 1 81675651 [T/A] rs12089590 1 81676233 [A/C] rs72711657 1 81676997 [T/C] JHU_1.81677080 1 81677081 [T/C] JHU_1.81677089 1 81677090 [A/T] rs7553222 1 81677398 [A/G] rs1195866 1 81678254 [T/C] rs77413899 1 81678907 [A/G] rs76026507 1 81680723 [T/C] rs17106210 1 81685352 [A/G] JHU_1.81685379 1 81685380 [A/G] rs77571725 1 81685380 [A/G] rs117132104 1 81687175 [A/C] rs10874202 1 81688359 [A/G] rs12061813 1 81690592 [T/C] rs149360590 1 81692049 [A/G] rs12142340 1 81693468 [T/C] JHU_1.81698244 1 81698245 [A/G] JHU_1.81698906 1 81698907 [A/G] rs12749881 1 81700150 [T/G] rs75243916 1 81702010 [T/C] rs11163216 1 81702178 [A/G] rs57259363 1 81702301 [A/T] rs35595002 1 81703694 [T/C] rs76985829 1 81703749 [T/A] rs17106261 1 81704476 [T/C] rs17106264 1 81706429 [T/C] JHU_1.81717049 1 81717050 [T/C] rs59097796 1 81717274 [A/C] JHU_1.81717716 1 81717717 [A/C] JHU_1.81720549 1 81720550 [A/C] rs140849833 1 81724816 [T/A] rs6685944 1 81724900 [A/G] rs72933310 1 81727427 [T/C] rs1557020 1 81739593 [A/G] rs2031773 1 81741715 [T/G] rs143171877 1 81744505 [T/C] rs7551904 1 81746732 [T/C] rs17106313 1 81747823 [A/G] rs17417493 1 81749474 [T/C] rs1327609 1 81755444 [T/C] rs58325139 1 81756738 [A/G] rs10735763 1 81756972 [A/C] rs6667473 1 81757275 [A/C] rs6424747 1 81757825 [T/A] rs12026119 1 81759170 [A/G] rs77933121 1 81761238 [T/C] rs1327614 1 81764612 [A/G] rs60169623 1 81765134 [A/G] rs12743449 1 81765953 [A/T] rs6683338 1 81766935 [A/C] JHU_1.81767781 1 81767782 [A/G] JHU_1.81767799 1 81767800 [T/C] rs118028659 1 81767821 [C/G] JHU_1.81768380 1 81768381 [A/C] JHU_1.81768428 1 81768429 [T/G] JHU_1.81768596 1 81768597 [A/G] JHU_1.81768618 1 81768619 [A/C] JHU_1.81768828 1 81768829 [A/G] JHU_1.81769082 1 81769083 [T/C] rs140221942 1 81769278 [A/G] rs12059809 1 81769950 [A/T] rs80005636 1 81770083 [A/G] rs1998981 1 81770597 [T/C] rs12132596 1 81773201 [T/C] JHU_1.81773530 1 81773531 [T/A] rs17106386 1 81777712 [A/G] rs12075093 1 81777730 [A/G] rs12137941 1 81778651 [A/C] rs117179755 1 81779345 [T/C] rs17452799 1 81780540 [A/G] JHU_1.81781454 1 81781455 [T/C] JHU_1.81781818 1 81781819 [A/G] JHU_1.81781827 1 81781828 [A/G] 1:81783456-C-T 1 81783456 [T/C] rs183599095 1 81784385 [A/G] rs115572790 1 81788525 [A/G] rs4650366 1 81791213 [A/G] rs4362025 1 81796081 [T/G] rs2182767 1 81796560 [A/C] rs72713426 1 81798345 [G/C] JHU_1.81799465 1 81799466 [A/T] rs11163254 1 81803379 [T/C] rs1327600 1 81804154 [A/G] rs147264284 1 81805906 [T/C] exm2268712 1 81807097 [T/C] rs182842375 1 81810981 [T/G] JHU_1.81813837 1 81813838 [A/G] JHU_1.81814203 1 81814204 [A/G] JHU_1.81815827 1 81815828 [A/G] rs77986900 1 81816309 [T/C] rs74435492 1 81816433 [T/C] rs11810643 1 81816485 [A/G] rs4483451 1 81817246 [T/C] JHU_1.81817294 1 81817295 [A/G] rs7534535 1 81820712 [T/C] JHU_1.81822202 1 81822203 [T/G] rs12093730 1 81824004 [T/C] rs4477328 1 81827957 [T/C] rs4512695 1 81828029 [T/C] rs4526653 1 81831533 [A/C] JHU_1.81834949 1 81834950 [A/G] rs66896425 1 81837879 [T/G] JHU_1.81840346 1 81840347 [A/G] rs77433480 1 81841601 [T/C] rs76615660 1 81843226 [G/C] rs11163267 1 81843506 [T/C] rs12042327 1 81849042 [T/C] rs147503538 1 81850828 [T/G] rs12404189 1 81851687 [T/C] rs4266930 1 81852129 [A/G] rs4456134 1 81853327 [T/C] rs72713455 1 81853887 [T/C] rs12072484 1 81854603 [A/G] JHU_1.81855806 1 81855807 [C/G] JHU_1.81856858 1 81856859 [A/C] JHU_1.81857033 1 81857034 [T/C] JHU_1.81857039 1 81857040 [T/C] JHU_1.81857138 1 81857139 [A/G] rs74682794 1 81857724 [T/C] rs56340550 1 81865974 [T/C] rs4561073 1 81866112 [T/G] JHU_1.81867441 1 81867442 [T/G] exm2260736 1 81867479 [T/C] rs11163276 1 81868023 [T/C] rs6688942 1 81868639 [T/A] rs3890825 1 81870185 [T/C] rs4573556 1 81870615 [T/G] rs7546121 1 81870721 [A/G] rs7546194 1 81870764 [A/G] rs142418136 1 81873232 [A/G] rs11808193 1 81873869 [A/G] rs78696654 1 81875924 [T/C] rs11163281 1 81876723 [A/C] JHU_1.81877134 1 81877135 [C/G] JHU_1.81877610 1 81877611 [T/C] rs74094108 1 81879432 [A/G] JHU_1.81880310 1 81880311 [A/C] rs6681688 1 81881212 [T/C] JHU_1.81882984 1 81882985 [T/C] rs57384594 1 81886736 [A/G] rs4303112 1 81890941 [A/G] rs10874242 1 81891851 [T/C] JHU_1.81894922 1 81894923 [A/G] JHU_1.81896325 1 81896326 [T/C] rs75304576 1 81896488 [T/C] JHU_1.81896777 1 81896778 [T/G] rs34506456 1 81898164 [A/T] rs72940904 1 81899026 [T/C] rs75546935 1 81899584 [A/T] rs72940906 1 81899662 [A/G] rs4233112 1 81900158 [T/C] rs4520454 1 81901137 [T/C] rs12021749 1 81902874 [T/C] rs77620733 1 81908050 [A/C] rs76830381 1 81908219 [A/G] rs4390217 1 81911370 [A/G] rs11163296 1 81911989 [T/C] rs6698011 1 81921567 [T/C] rs116461332 1 81921827 [A/G] rs4420124 1 81924106 [T/C] rs72715558 1 81929249 [T/A] JHU_1.81929391 1 81929392 [A/G] rs76024087 1 81929392 [A/G] rs79121452 1 81931200 [A/C] rs61623602 1 81931342 [A/G] rs75978605 1 81932740 [A/G] rs11163300 1 81936773 [T/G] rs57870280 1 81940712 [T/C] rs11586668 1 81941270 [A/G] rs59659456 1 81942576 [A/G] rs11163302 1 81943906 [A/G] rs10874249 1 81946553 [A/G] JHU_1.81946631 1 81946632 [A/G] rs11163306 1 81947398 [T/G] rs75868632 1 81948746 [A/G] rs12142040 1 81949079 [A/G] rs4650559 1 81951500 [T/C] JHU_1.81956764 1 81956765 [C/G] JHU_1.81962760 1 81962761 [A/G] JHU_1.81965958 1 81965959 [A/G] rs17453965 1 81966926 [T/G] rs17106582 1 81967072 [A/G] rs114842936 1 81967605 [G/C] rs74095564 1 81968243 [A/G] rs113344436 1 81969478 [A/T] JHU_1.81970791 1 81970792 [T/C] JHU_1.81971931 1 81971932 [T/C] JHU_1.81972441 1 81972442 [A/C] JHU_1.81973282 1 81973283 [A/G] rs76843343 1 81973459 [G/C] rs78957722 1 81974133 [G/C] rs144380991 1 81976346 [T/C] rs117659159 1 81976765 [T/C] JHU_1.81982516 1 81982517 [T/C] NR_125943 LOC101927434 Silent rs1535881 1 81983650 [A/G] NR_125943 LOC101927434 Silent rs61773204 1 81987438 [T/A] NR_125943 LOC101927434 Silent JHU_1.81987651 1 81987652 [T/G] NR_125943 LOC101927434 Silent JHU_1.81989419 1 81989420 [A/C] NR_125943 LOC101927434 Silent JHU_1.81991456 1 81991457 [A/G] NR_125943 LOC101927434 Silent JHU_1.81992019 1 81992020 [A/G] NR_125943 LOC101927434 Silent JHU_1.81994597 1 81994598 [A/G] NR_125943 LOC101927434 Silent rs11806028 1 81995870 [A/G] NR_125943 LOC101927434 Silent rs74635775 1 81997071 [T/G] NR_125943 LOC101927434 Silent rs17106647 1 81998027 [T/C] NR_125943 LOC101927434 Silent JHU_1.81998661 1 81998662 [A/C] NR_125943 LOC101927434 Silent rs76446623 1 82001106 [T/G] NR_125943 LOC101927434 Silent rs17420903 1 82001526 [A/C] NR_125943 LOC101927434 Silent JHU_1.82004712 1 82004713 [A/G] NR_125943 LOC101927434 Silent rs72933288 1 82004858 [A/G] NR_125943 LOC101927434 Silent JHU_1.82006345 1 82006346 [A/G] NR_125943 LOC101927434 Silent rs77579408 1 82008173 [T/C] NR_125943 LOC101927434 Silent rs7527341 1 82009424 [T/C] NR_125943 LOC101927434 Silent JHU_1.82009778 1 82009779 [A/C] NR_125943 LOC101927434 Silent JHU_1.82009936 1 82009937 [T/C] NR_125943 LOC101927434 Silent rs190852733 1 82012099 [A/G] NR_125943 LOC101927434 Silent rs7544613 1 82015752 [A/G] NR_125943 LOC101927434 Silent JHU_1.82018309 1 82018310 [A/C] NR_125943 LOC101927434 Silent rs4313439 1 82019285 [A/G] NR_125943 LOC101927434 Silent JHU_1.82022720 1 82022721 [A/G] NR_125943 LOC101927434 Silent JHU_1.82023429 1 82023430 [T/G] JHU_1.82023829 1 82023830 [G/C] rs145249589 1 82024293 [T/C] rs12022306 1 82026353 [A/G] rs12145665 1 82028246 [A/G] JHU_1.82029310 1 82029311 [T/C] JHU_1.82029447 1 82029448 [A/G] rs17106705 1 82033137 [G/C] rs111942313 1 82034394 [T/A] rs6682433 1 82037984 [A/G] JHU_1.82039596 1 82039597 [T/C] JHU_1.82040884 1 82040885 [T/G] JHU_1.82041147 1 82041148 [A/G] rs17106722 1 82041465 [T/C] rs116167853 1 82041767 [A/G] JHU_1.82044763 1 82044764 [T/C] rs6696786 1 82045240 [A/G] JHU_1.82048027 1 82048028 [T/C] JHU_1.82049148 1 82049149 [T/C] rs76920924 1 82050542 [G/C] rs1324378 1 82051831 [T/A] rs6689725 1 82051894 [T/C] rs10493695 1 82053387 [T/C] rs3762402 1 82053806 [A/G] rs10874255 1 82054524 [A/C] rs1359309 1 82055936 [A/G] rs526674 1 82059198 [T/C] rs12717771 1 82064696 [A/G] rs10782765 1 82065356 [A/T] JHU_1.82069655 1 82069656 [T/A] JHU_1.82070316 1 82070317 [T/C] JHU_1.82072180 1 82072181 [T/C] JHU_1.82072467 1 82072468 [T/C] rs1924651 1 82078790 [A/G] rs7518107 1 82083740 [T/C] JHU_1.82084108 1 82084109 [A/T] rs4650570 1 82087348 [A/G] rs7523717 1 82087412 [T/C] JHU_1.82091241 1 82091242 [T/C] rs17106847 1 82096075 [T/C] JHU_1.82098584 1 82098585 [G/C] rs77664412 1 82098614 [A/G] JHU_1.82102295 1 82102296 [T/C] rs10493696 1 82102924 [A/G] rs12064738 1 82106042 [A/G] rs12742099 1 82106860 [A/T] rs4459150 1 82108308 [T/C] JHU_1.82116282 1 82116283 [A/C] JHU_1.82116444 1 82116445 [A/G] JHU_1.82116616 1 82116617 [A/T] rs2389166 1 82117395 [A/G] rs10399830 1 82118344 [T/C] rs10747386 1 82119600 [A/G] rs17106872 1 82120122 [T/C] rs74525265 1 82120584 [T/C] rs58116956 1 82121095 [A/G] rs188619395 1 82123574 [T/G] rs2030044 1 82125303 [A/G] rs571361 1 82126526 [A/G] JHU_1.82126878 1 82126879 [A/T] rs9324178 1 82127429 [T/C] rs12565266 1 82132918 [A/C] JHU_1.82134221 1 82134222 [T/A] rs627084 1 82138740 [A/G] JHU_1.82142366 1 82142367 [T/A] rs489438 1 82143805 [T/C] rs493850 1 82144245 [A/G] rs9661521 1 82145572 [A/G] rs10493701 1 82147200 [A/G] rs11163349 1 82148070 [A/G] rs645997 1 82156682 [A/G] rs660851 1 82162001 [A/G] rs9725133 1 82162129 [A/G] rs12130668 1 82167526 [T/C] NM_001297704 ADGRL2 Silent rs72718841 1 82167742 [T/C] NM_001297704 ADGRL2 Silent JHU_1.82168031 1 82168032 [A/G] NM_001297704 ADGRL2 Silent rs9726213 1 82173272 [A/C] NM_001297704 ADGRL2 Silent rs540287 1 82173308 [T/C] NM_001297704 ADGRL2 Silent rs17106985 1 82175711 [A/C] NM_001297704 ADGRL2 Silent rs9662349 1 82178052 [A/G] NM_001297704 ADGRL2 Silent rs72715711 1 82178145 [A/C] NM_001297704 ADGRL2 Silent rs77386776 1 82179228 [A/C] NM_001297704 ADGRL2 Silent rs114757748 1 82179353 [T/C] NM_001297704 ADGRL2 Silent JHU_1.82180863 1 82180864 [T/A] NM_001297704 ADGRL2 Silent rs9728534 1 82181580 [T/C] NM_001297704 ADGRL2 Silent rs9660481 1 82181963 [A/C] NM_001297704 ADGRL2 Silent rs17098786 1 82182299 [A/T] NM_001297704 ADGRL2 Silent JHU_1.82185868 1 82185869 [T/C] NM_001297704 ADGRL2 Silent rs149376438 1 82186601 [T/G] NM_001297704 ADGRL2 Silent rs72715733 1 82188756 [A/G] NM_001297704 ADGRL2 Silent rs2133108 1 82190111 [A/C] NM_001297704 ADGRL2 Silent rs9324182 1 82191476 [G/C] NM_001297704 ADGRL2 Silent JHU_1.82192365 1 82192366 [A/G] NM_001297704 ADGRL2 Silent rs12731373 1 82193885 [A/G] NM_001297704 ADGRL2 Silent JHU_1.82194106 1 82194107 [A/G] NM_001297704 ADGRL2 Silent rs9324183 1 82195760 [T/G] NM_001297704 ADGRL2 Silent rs2039829 1 82198945 [A/G] NM_001297704 ADGRL2 Silent rs9659808 1 82199372 [T/C] NM_001297704 ADGRL2 Silent JHU_1.82213385 1 82213386 [T/G] NM_001297704 ADGRL2 Silent rs149711250 1 82214829 [A/G] NM_001297704 ADGRL2 Silent rs9729825 1 82215080 [A/G] NM_001297704 ADGRL2 Silent rs112470453 1 82218062 [G/C] NM_001297704 ADGRL2 Silent JHU_1.82219263 1 82219264 [A/G] NM_001297704 ADGRL2 Silent 1:82220761-T-C 1 82220761 [T/C] NM_001297704 ADGRL2 Silent JHU_1.82220909 1 82220910 [T/C] NM_001297704 ADGRL2 Silent rs1498205 1 82221335 [A/T] NM_001297704 ADGRL2 Silent rs9324186 1 82222849 [T/G] NM_001297704 ADGRL2 Silent JHU_1.82223867 1 82223868 [T/G] NM_001297704 ADGRL2 Silent rs61775260 1 82225303 [A/G] NM_001297704 ADGRL2 Silent rs9324187 1 82225803 [T/G] NM_001297704 ADGRL2 Silent rs10874266 1 82228427 [T/C] NM_001297704 ADGRL2 Silent JHU_1.82230848 1 82230849 [T/C] NM_001297704 ADGRL2 Silent JHU_1.82231782 1 82231783 [A/G] NM_001297704 ADGRL2 Silent JHU_1.82232545 1 82232546 [A/G] NM_001297704 ADGRL2 Silent rs12726534 1 82232757 [T/G] NM_001297704 ADGRL2 Silent rs72715801 1 82240168 [A/G] NM_001297704 ADGRL2 Silent rs116505488 1 82240596 [C/G] NM_001297704 ADGRL2 Silent rs9728563 1 82242203 [A/G] NM_001297704 ADGRL2 Silent rs12072054 1 82243083 [A/G] NM_001297704 ADGRL2 Silent JHU_1.82244136 1 82244137 [T/G] NM_001297704 ADGRL2 Silent rs11163371 1 82244575 [T/G] NM_001297704 ADGRL2 Silent rs112396635 1 82246145 [A/G] NM_001297704 ADGRL2 Silent rs1498212 1 82246392 [A/G] NM_001297704 ADGRL2 Silent rs11163372 1 82247248 [T/C] NM_001297704 ADGRL2 Silent rs112179031 1 82255906 [T/C] NM_001297704 ADGRL2 Silent rs76106834 1 82259038 [T/C] NM_001297704 ADGRL2 Silent rs76878379 1 82260157 [T/A] NM_001297704 ADGRL2 Silent rs3748770 1 82265905 [A/G] NM_001297704 ADGRL2 Silent rs12065513 1 82266830 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82267941 1 82267942 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12758725 1 82268594 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1341259 1 82271766 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs138151899 1 82272792 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:82274192-T-C 1 82274192 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12059795 1 82278453 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75903906 1 82278977 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs697988 1 82280220 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76575471 1 82281335 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs117935163 1 82285885 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82290651 1 82290652 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs76114800 1 82291357 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12022861 1 82294142 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11577758 1 82295074 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6677062 1 82295530 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13374217 1 82297224 [A/T] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs754054 1 82299571 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12064537 1 82302600 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70571 1 82302677 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_S3F,Missense_S3F,Missense_S3F,Missense_S3F,Missense_S3F,Missense_S3F,Missense_S3F exm70573 1 82302695 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_R9Q,Missense_R9Q,Missense_R9Q,Missense_R9Q,Missense_R9Q,Missense_R9Q,Missense_R9Q JHU_1.82303977 1 82303978 [A/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74095943 1 82303978 [A/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17467863 1 82309534 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11163391 1 82317489 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82324418 1 82324419 [C/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82324626 1 82324627 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82327742 1 82327743 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs55937645 1 82328432 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82328704 1 82328705 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1546086 1 82330750 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs79624392 1 82333838 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3790927 1 82339237 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82354452 1 82354453 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82359775 1 82359776 [A/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82361499 1 82361500 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs638113 1 82362195 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82362502 1 82362503 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2026596 1 82364673 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82364848 1 82364849 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115870727 1 82365463 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82367270 1 82367271 [A/T] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82367788 1 82367789 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs654654 1 82368812 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82369530 1 82369531 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs183474583 1 82370124 [G/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82370309 1 82370310 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82371633 1 82371634 [T/A] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70579 1 82372803 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I59V,Missense_I59V,Missense_I59V,Missense_I59V,Missense_I59V,Missense_I59V,Missense_I59V 1:82372835-CA 1 82372835 [A/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_D69E,Missense_D69E,Missense_D69E,Missense_D69E,Missense_D69E,Missense_D69E,Missense_D69E JHU_1.82376573 1 82376574 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs75806019 1 82379792 [A/T] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2050911 1 82384407 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82385051 1 82385052 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12758555 1 82387711 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs993099 1 82388902 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12133546 1 82389071 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82389070 1 82389071 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2201163 1 82389289 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:82392592-T-C 1 82392592 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82394595 1 82394596 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1342127 1 82400728 [C/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82401480 1 82401481 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs139190382 1 82402521 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I133V,Missense_I133V,Missense_I133V,Missense_I133V,Missense_I133V,Missense_I133V,Missense_M133V rs386783 1 82402790 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs148614943 1 82403681 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82405714 1 82405715 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1352923 1 82406799 [T/A] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs74885567 1 82408124 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70592 1 82409174 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_D307N,Missense_D307N,Missense_D307N,Missense_D307N,Missense_D307N,Missense_D307N,Missense_D311N exm2253369 1 82409269 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Synonymous_N338N,Synonymous_N338N,Synonymous_N338N,Synonymous_N338N,Synonymous_N338N,Synonymous_N338N,Synonymous_N342N exm70597 1 82409337 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_Q361R,Missense_Q361R,Missense_Q361R,Missense_Q361R,Missense_Q361R,Missense_Q361R,Missense_Q365R exm70598 1 82409352 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A366V,Missense_A370V variant.4437 1 82409458 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs142318275 1 82411935 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1475394 1 82412099 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11163396 1 82413263 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82415813 1 82415814 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:82415930-CT 1 82415930 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_S419L,Missense_S419L,Missense_S419L,Missense_S419L,Missense_S419L,Missense_S419L,Missense_S423L exm70607 1 82416040 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_P456S,Missense_P456S,Missense_P456S,Missense_P456S,Missense_P456S,Missense_P456S,Missense_P460S exm70608 1 82416046 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I458V,Missense_I458V,Missense_I458V,Missense_I458V,Missense_I458V,Missense_I458V,Missense_I462V 1:82416758-GA 1 82416758 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_D517N,Missense_D517N,Missense_D517N,Missense_D517N,Missense_D517N,Missense_D517N,Missense_D521N 1:82416797-GT 1 82416797 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_A530S,Missense_A530S,Missense_A530S,Missense_A530S,Missense_A530S,Missense_A530S,Missense_A534S exm70618 1 82417696 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_K551R,Missense_K551R,Missense_K551R,Missense_K551R,Missense_K551R,Missense_K551R,Missense_K555R rs77301236 1 82418933 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70632 1 82421742 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I655T,Missense_I655T,Missense_I655T,Missense_I655T,Missense_I668T,Missense_I655T,Missense_I672T rs114879138 1 82422995 [A/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs185837451 1 82426055 [A/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:82431754-CT 1 82431754 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_A660V,Missense_A660V,Missense_A660V,Missense_A660V,Missense_A673V,Missense_A660V,Missense_A677V exm70633 1 82431756 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_V661L,Missense_V661L,Missense_V661L,Missense_V661L,Missense_V674L,Missense_V661L,Missense_V678L 1:82431796-CT 1 82431796 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_P674L,Missense_P674L,Missense_P674L,Missense_P674L,Missense_P687L,Missense_P674L,Missense_P691L 1:82431838-CT 1 82431838 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_A688V,Missense_A688V,Missense_A688V,Missense_A688V,Missense_A701V,Missense_A688V,Missense_A705V variant.4439 1 82431872 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:82432247-GA 1 82432247 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_R751Q,Missense_R751Q,Missense_R751Q,Missense_R751Q,Missense_R764Q,Missense_R751Q,Missense_R768Q chr1_82433801 1 82433801 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_V797A,Missense_V797A,Missense_V797A,Missense_V797A,Missense_V810A,Missense_V797A,Missense_V814A exm70648 1 82433819 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_R803Q,Missense_R803Q,Missense_R803Q,Missense_R803Q,Missense_R816Q,Missense_R803Q,Missense_R820Q exm70653 1 82434874 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_V829I,Missense_V829I,Missense_V829I,Missense_V829I,Missense_V842I,Missense_V829I,Missense_V846I exm2253371 1 82434945 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Synonymous_C852C,Synonymous_C852C,Synonymous_C852C,Synonymous_C852C,Synonymous_C865C,Synonymous_C852C,Synonymous_C869C exm70660 1 82435036 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I883V,Missense_I883V,Missense_I883V,Missense_I883V,Missense_I896V,Missense_I883V,Missense_I900V rs1327022 1 82436281 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs115388180 1 82440151 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82444777 1 82444778 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.4441 1 82446523 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_82446525 1 82446525 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17107618 1 82447133 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12130650 1 82447191 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3790879 1 82448368 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.82449888 1 82449889 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1154816 1 82450194 [A/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70685 1 82450382 [A/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_S1116Y,Missense_S1116Y,Missense_S1116Y,Missense_S1116Y,Missense_S1129Y,Missense_S1116Y,Missense_S1133Y 1:82452650-AG 1 82452650 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_N1192D 1:82452681-AG 1 82452681 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_N1202S 1:82453556-CA 1 82453556 [A/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70699 1 82456107 [C/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_A1164P,Silent,Missense_A1164P,Silent,Missense_A1177P,Silent,Missense_A1224P exm70705 1 82456165 [T/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_G1183V,Silent,Missense_G1183V,Silent,Missense_G1196V,Silent,Missense_G1243V exm70706 1 82456182 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_V1189M,Silent,Missense_V1189M,Silent,Missense_V1202M,Silent,Missense_V1249M 1:82456197-TC 1 82456197 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_C1194R,Silent,Missense_C1194R,Silent,Missense_C1207R,Silent,Missense_C1254R 1:82456276-GA 1 82456276 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_S1220N,Silent,Missense_S1220N,Silent,Missense_S1233N,Silent,Missense_S1280N exm70710 1 82456308 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_V1231I,Silent,Missense_V1231I,Silent,Missense_V1244I,Silent,Missense_V1291I exm70712 1 82456332 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_S1239G,Silent,Missense_S1239G,Silent,Missense_S1252G,Silent,Missense_S1299G exm70713 1 82456341 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_D1242N,Silent,Missense_D1242N,Silent,Missense_D1255N,Silent,Missense_D1302N exm70715 1 82456381 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_S1255N,Silent,Missense_S1255N,Silent,Missense_S1268N,Silent,Missense_S1315N exm70719 1 82456419 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_E1268K,Silent,Missense_E1268K,Silent,Missense_E1281K,Silent,Missense_E1328K exm70721 1 82456432 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_I1272T,Silent,Missense_I1272T,Silent,Missense_I1285T,Silent,Missense_I1332T exm70726 1 82456485 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_E1290K,Silent,Missense_E1290K,Silent,Missense_E1303K,Silent,Missense_E1350K exm70727 1 82456501 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_Y1295C,Silent,Missense_Y1295C,Silent,Missense_Y1308C,Silent,Missense_Y1355C exm70730 1 82456585 [A/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_R1323K,Silent,Missense_R1323K,Silent,Missense_R1336K,Silent,Missense_R1383K exm70731 1 82456599 [C/G] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_P1328A,Silent,Missense_P1328A,Silent,Missense_P1341A,Silent,Missense_P1388A exm1910906 1 82456716 [T/C] NM_001297704,NM_001350699,NM_012302,NM_001297706,NM_001330645,NM_001297705,NM_001350698 ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2,ADGRL2 EXON Missense_Y1367H,Silent,Missense_Y1367H,Silent,Missense_Y1380H,Silent,Missense_Y1427H JHU_1.82460540 1 82460541 [T/G] rs7412827 1 82462304 [A/G] rs115370014 1 82464956 [T/G] JHU_1.82465274 1 82465275 [C/G] rs4970642 1 82465731 [A/G] rs1022974 1 82469609 [A/G] 1:82469836-A-G 1 82469836 [A/G] rs116238780 1 82470912 [A/G] rs17107671 1 82475503 [T/C] JHU_1.82476002 1 82476003 [T/C] 1:82478409-A-G 1 82478409 [A/G] JHU_1.82478923 1 82478924 [A/C] rs61773983 1 82481095 [A/G] JHU_1.82481094 1 82481095 [A/G] rs146613068 1 82481255 [T/A] rs77233295 1 82485576 [A/C] rs61773985 1 82489074 [A/G] rs12145656 1 82492195 [T/C] rs3953689 1 82493712 [C/G] rs76661355 1 82503651 [A/G] JHU_1.82503943 1 82503944 [A/G] rs12135377 1 82506257 [A/C] rs10782773 1 82508628 [T/C] rs58465084 1 82514927 [A/G] rs7515935 1 82517491 [T/C] rs11163417 1 82517645 [T/C] JHU_1.82519310 1 82519311 [T/G] rs12739725 1 82523822 [A/G] JHU_1.82526724 1 82526725 [T/G] JHU_1.82529077 1 82529078 [T/C] rs111494440 1 82529558 [T/C] JHU_1.82531469 1 82531470 [A/G] rs6685365 1 82540717 [T/C] JHU_1.82540716 1 82540717 [T/C] rs80238482 1 82541179 [A/G] rs4609472 1 82541810 [A/G] JHU_1.82544625 1 82544626 [A/G] rs7523584 1 82547929 [T/C] rs4970666 1 82552067 [T/C] rs12129408 1 82555368 [T/C] JHU_1.82558189 1 82558190 [A/C] rs118110436 1 82560714 [A/G] rs962249 1 82561559 [T/G] JHU_1.82563509 1 82563510 [A/C] JHU_1.82563796 1 82563797 [A/C] JHU_1.82564251 1 82564252 [G/C] JHU_1.82564440 1 82564441 [A/T] rs76178649 1 82565997 [A/G] rs116194964 1 82566476 [A/G] rs12083586 1 82566764 [A/C] JHU_1.82572287 1 82572288 [C/G] rs7520026 1 82572288 [C/G] rs114980305 1 82573033 [A/G] rs6687277 1 82575142 [A/G] 1:82576569-A-G 1 82576569 [A/G] rs148077453 1 82577399 [T/G] rs74783815 1 82577752 [A/G] rs144461422 1 82578734 [A/G] JHU_1.82580311 1 82580312 [T/C] JHU_1.82580904 1 82580905 [T/C] rs141377665 1 82581046 [T/C] JHU_1.82581204 1 82581205 [T/C] rs17473217 1 82583200 [T/C] rs75525922 1 82585356 [T/C] rs146391502 1 82590576 [A/G] rs149168361 1 82591696 [T/C] rs17473336 1 82594863 [A/G] rs4970675 1 82595241 [T/C] rs76353564 1 82595440 [A/G] rs146674369 1 82604384 [T/C] rs78801310 1 82609930 [T/C] rs6681181 1 82612212 [A/G] rs139600519 1 82613192 [A/C] rs1027195 1 82613556 [T/A] JHU_1.82613555 1 82613556 [T/A] 1:82615036-C-T 1 82615036 [T/C] 1:82616864-T-G 1 82616864 [T/G] rs11581695 1 82618403 [A/C] rs75288790 1 82630989 [A/C] rs148136734 1 82633802 [A/C] rs116908072 1 82633835 [A/G] rs55693369 1 82634662 [T/G] rs75256065 1 82639815 [T/C] 1:82639977-C-A 1 82639977 [A/C] rs7514492 1 82653168 [A/C] rs115164305 1 82656834 [T/C] rs1577592 1 82657391 [T/C] rs183353248 1 82666894 [A/G] JHU_1.82667396 1 82667397 [T/C] rs116664909 1 82673157 [A/G] rs72721598 1 82677553 [T/C] rs148277140 1 82681148 [A/G] rs79556971 1 82685641 [A/G] rs695978 1 82686415 [T/C] rs61773236 1 82687435 [T/C] rs10493712 1 82690006 [T/C] rs116432378 1 82692360 [T/A] rs187908948 1 82694843 [A/G] rs10747391 1 82696502 [A/G] rs115946584 1 82697114 [A/G] JHU_1.82697956 1 82697957 [A/C] rs185047523 1 82699675 [A/C] rs4106233 1 82708274 [T/C] JHU_1.82709263 1 82709264 [A/T] rs12031509 1 82711778 [A/G] rs796800 1 82712113 [T/C] rs17488022 1 82714288 [T/G] JHU_1.82722668 1 82722669 [A/C] rs785605 1 82723394 [A/G] rs74093512 1 82727872 [T/C] rs2657551 1 82729907 [A/G] JHU_1.82732638 1 82732639 [A/G] JHU_1.82732648 1 82732649 [C/G] rs35639613 1 82735479 [A/G] JHU_1.82738174 1 82738175 [T/C] rs189809791 1 82739709 [A/G] JHU_1.82740472 1 82740473 [A/G] rs79893870 1 82741900 [A/G] JHU_1.82746534 1 82746535 [A/T] rs785627 1 82748577 [T/C] rs138977330 1 82749828 [A/G] rs785631 1 82751201 [A/G] JHU_1.82751505 1 82751506 [T/C] rs785581 1 82757711 [T/C] 1:82758125-T-C 1 82758125 [T/C] rs1770679 1 82764942 [T/C] rs1770678 1 82765052 [T/C] rs77030864 1 82766779 [T/G] rs17108135 1 82767965 [A/G] JHU_1.82768743 1 82768744 [A/G] JHU_1.82769916 1 82769917 [A/C] rs75420973 1 82771908 [T/C] JHU_1.82774936 1 82774937 [T/C] JHU_1.82776189 1 82776190 [A/G] rs709741 1 82777956 [A/G] JHU_1.82778117 1 82778118 [A/G] JHU_1.82785160 1 82785161 [A/C] rs1857814 1 82787818 [A/G] JHU_1.82788791 1 82788792 [T/C] JHU_1.82795528 1 82795529 [T/C] rs786077 1 82797633 [T/G] JHU_1.82797665 1 82797666 [T/C] rs785643 1 82800233 [A/G] JHU_1.82800324 1 82800325 [G/C] JHU_1.82800339 1 82800340 [T/C] rs785639 1 82801007 [T/C] JHU_1.82801635 1 82801636 [A/G] rs12408229 1 82805566 [A/G] rs74322858 1 82806558 [G/C] rs17108219 1 82807606 [T/G] JHU_1.82808317 1 82808318 [T/A] rs905912 1 82808607 [G/C] rs7549598 1 82809836 [T/C] JHU_1.82810189 1 82810190 [A/G] rs1948885 1 82818466 [A/C] rs1144283 1 82826465 [A/C] rs17437521 1 82829953 [T/C] JHU_1.82837456 1 82837457 [T/C] JHU_1.82839226 1 82839227 [T/C] rs55896809 1 82839561 [T/C] rs1281614 1 82843604 [T/G] rs144937461 1 82844559 [A/G] JHU_1.82847418 1 82847419 [T/A] rs11163467 1 82848122 [T/C] JHU_1.82848686 1 82848687 [T/C] rs1281603 1 82848779 [T/C] JHU_1.82850008 1 82850009 [T/G] rs946831 1 82850151 [T/C] rs76073877 1 82855247 [T/C] rs1281622 1 82859204 [T/G] JHU_1.82860441 1 82860442 [A/G] rs4970693 1 82860892 [T/G] rs10493715 1 82865771 [T/C] rs114446164 1 82866559 [A/G] JHU_1.82868884 1 82868885 [A/C] JHU_1.82869674 1 82869675 [A/T] rs7546970 1 82877993 [T/A] rs17438560 1 82879298 [T/C] JHU_1.82882342 1 82882343 [A/G] JHU_1.82882699 1 82882700 [A/C] JHU_1.82884720 1 82884721 [T/G] rs12027755 1 82885020 [A/C] rs3906120 1 82887129 [C/G] rs17108345 1 82887317 [T/C] rs76521286 1 82888496 [A/C] rs79861500 1 82888578 [T/G] rs141898057 1 82889675 [G/C] rs12736656 1 82890240 [A/G] rs79646420 1 82890473 [A/G] JHU_1.82891739 1 82891740 [A/C] rs55657822 1 82892051 [A/G] rs9633442 1 82894008 [A/G] JHU_1.82894577 1 82894578 [T/C] JHU_1.82899303 1 82899304 [T/G] 1:82899579-T-G 1 82899579 [T/G] rs1986902 1 82899747 [A/G] JHU_1.82902810 1 82902811 [A/C] rs61227487 1 82903001 [T/C] JHU_1.82904040 1 82904041 [T/C] rs11163476 1 82913726 [T/C] rs74743448 1 82915115 [T/C] JHU_1.82917636 1 82917637 [T/C] rs35568859 1 82921626 [A/G] rs77675643 1 82923130 [T/C] JHU_1.82923141 1 82923142 [A/G] rs17108354 1 82923690 [T/G] rs140468474 1 82925399 [T/A] JHU_1.82928576 1 82928577 [T/G] JHU_1.82932592 1 82932593 [T/C] JHU_1.82933063 1 82933064 [T/A] rs34820145 1 82934096 [A/C] rs12729208 1 82934924 [A/G] rs146514835 1 82939143 [C/G] rs11163482 1 82939537 [T/C] rs191349046 1 82943298 [A/G] JHU_1.82943780 1 82943781 [A/G] rs10874312 1 82944571 [A/G] rs75023709 1 82944719 [T/G] JHU_1.82947336 1 82947337 [T/C] rs2026598 1 82949643 [A/G] rs74096352 1 82952031 [T/C] JHU_1.82952812 1 82952813 [T/C] JHU_1.82955535 1 82955536 [A/G] JHU_1.82957202 1 82957203 [T/C] JHU_1.82958547 1 82958548 [T/C] rs2225083 1 82960385 [A/G] JHU_1.82964438 1 82964439 [A/C] rs7523716 1 82964864 [T/G] rs116348453 1 82965227 [A/C] JHU_1.82965830 1 82965831 [A/G] exm2260750 1 82965883 [T/C] JHU_1.82966038 1 82966039 [A/G] JHU_1.82966119 1 82966120 [T/C] JHU_1.82966212 1 82966213 [T/C] rs75448847 1 82968511 [T/A] rs10489862 1 82969372 [A/G] rs141144421 1 82970881 [A/G] rs7548012 1 82977240 [T/C] rs116271320 1 82977982 [A/G] JHU_1.82982521 1 82982522 [T/C] JHU_1.82982947 1 82982948 [G/C] rs7534453 1 82983468 [T/G] JHU_1.82985292 1 82985293 [A/G] JHU_1.82985636 1 82985637 [A/C] rs77665761 1 82986224 [T/G] rs2209696 1 82987838 [T/C] JHU_1.82988811 1 82988812 [T/C] JHU_1.82991038 1 82991039 [A/G] rs12036116 1 82992323 [G/C] 1:82995923-C-T 1 82995923 [T/C] rs78649069 1 83004708 [T/G] rs142142620 1 83006808 [A/C] JHU_1.83012482 1 83012483 [A/G] rs318405 1 83014374 [A/G] rs371387 1 83015153 [T/C] rs12096130 1 83018330 [A/G] rs318422 1 83019476 [A/G] rs77203605 1 83020918 [T/C] rs72711838 1 83021138 [T/G] JHU_1.83022913 1 83022914 [A/G] rs150266376 1 83023486 [A/G] JHU_1.83029672 1 83029673 [A/C] rs7415063 1 83032432 [T/G] rs190063683 1 83034658 [T/G] rs9661164 1 83037900 [A/G] rs72714343 1 83038525 [G/C] rs140396421 1 83038977 [T/G] JHU_1.83040692 1 83040693 [A/G] rs35843173 1 83041620 [A/T] JHU_1.83041619 1 83041620 [A/T] rs114766883 1 83042522 [A/G] JHU_1.83043781 1 83043782 [T/G] JHU_1.83044165 1 83044166 [A/C] JHU_1.83044238 1 83044239 [T/C] rs1690541 1 83046856 [T/C] rs1768740 1 83046913 [T/C] rs4363415 1 83052634 [T/C] rs76420735 1 83053208 [T/C] rs10874322 1 83054799 [T/C] rs1281404 1 83054951 [A/G] rs954572 1 83057803 [A/G] JHU_1.83058456 1 83058457 [T/C] JHU_1.83061294 1 83061295 [T/C] rs80062783 1 83061472 [A/G] rs11163513 1 83063455 [T/G] rs145501717 1 83063535 [T/C] rs79862877 1 83063613 [T/C] rs6604915 1 83066525 [T/C] rs12142048 1 83067795 [C/G] rs75271258 1 83068435 [T/C] rs12141373 1 83069155 [T/A] rs12086858 1 83070865 [T/C] rs72946114 1 83075467 [A/G] rs2389318 1 83076962 [T/C] rs950269 1 83077523 [A/G] rs10493720 1 83078971 [T/C] rs57003522 1 83082208 [T/A] rs1493977 1 83083251 [A/G] rs191571597 1 83089971 [G/C] rs6604920 1 83094381 [A/G] rs6660986 1 83097971 [A/G] rs6604921 1 83098959 [T/C] rs146782875 1 83101222 [T/C] rs903216 1 83101281 [T/C] rs75076037 1 83101981 [A/G] JHU_1.83103323 1 83103324 [A/G] rs11163533 1 83106539 [A/G] rs4662154 1 83107700 [A/G] JHU_1.83109873 1 83109874 [A/G] rs115531077 1 83109874 [A/G] JHU_1.83110442 1 83110443 [A/G] rs1577991 1 83111268 [A/G] rs409599 1 83112606 [T/C] rs2787985 1 83118044 [T/G] rs319650 1 83118582 [A/C] JHU_1.83119335 1 83119336 [T/G] rs1766629 1 83120757 [A/G] rs365222 1 83120822 [A/G] JHU_1.83125607 1 83125608 [A/G] JHU_1.83127610 1 83127611 [A/T] JHU_1.83127675 1 83127676 [A/G] rs319656 1 83127763 [A/G] JHU_1.83129280 1 83129281 [A/T] JHU_1.83130841 1 83130842 [A/G] JHU_1.83130910 1 83130911 [T/G] rs9658973 1 83131084 [T/A] rs76636864 1 83131488 [A/G] JHU_1.83131922 1 83131923 [T/C] rs1433761 1 83132400 [A/C] rs115464905 1 83133258 [C/G] rs17108829 1 83136135 [A/G] JHU_1.83136919 1 83136920 [A/G] JHU_1.83136983 1 83136984 [T/C] rs140883633 1 83137516 [A/G] rs17108844 1 83138769 [T/C] rs115546903 1 83140889 [T/C] rs74094174 1 83142362 [A/T] rs113308900 1 83142960 [T/C] JHU_1.83143272 1 83143273 [A/C] JHU_1.83143285 1 83143286 [T/C] rs138578049 1 83143845 [A/C] JHU_1.83143938 1 83143939 [A/G] rs984697 1 83144687 [A/G] rs413673 1 83144899 [T/G] rs384598 1 83145533 [A/G] JHU_1.83146913 1 83146914 [A/T] rs4359030 1 83146914 [A/T] rs12057639 1 83147308 [A/G] 1:82684167del58 1 83149851 [D/I] JHU_1.83149914 1 83149915 [T/C] JHU_1.83150266 1 83150267 [T/A] rs117628703 1 83160038 [T/C] rs2641944 1 83166637 [T/C] JHU_1.83167654 1 83167655 [T/C] JHU_1.83167669 1 83167670 [A/C] rs75036545 1 83167760 [T/C] rs11585110 1 83171984 [T/C] rs10493723 1 83172112 [T/C] exm2268714 1 83172671 [T/C] rs389112 1 83172684 [A/G] rs17108959 1 83173374 [A/G] JHU_1.83174097 1 83174098 [A/C] rs75344993 1 83174098 [A/C] rs11163557 1 83176169 [T/C] JHU_1.83181790 1 83181791 [A/G] JHU_1.83183939 1 83183940 [T/G] rs150385345 1 83184792 [A/G] JHU_1.83189796 1 83189797 [A/T] JHU_1.83199946 1 83199947 [T/C] rs77612048 1 83201815 [A/G] JHU_1.83202332 1 83202333 [T/C] rs320922 1 83205734 [A/C] rs116597512 1 83207448 [T/C] rs34793837 1 83208728 [G/C] rs79086705 1 83209771 [T/C] JHU_1.83210610 1 83210611 [A/C] JHU_1.83214152 1 83214153 [A/G] rs12024206 1 83216638 [A/G] JHU_1.83230305 1 83230306 [T/C] JHU_1.83232286 1 83232287 [A/G] rs4662145 1 83237110 [T/C] rs320901 1 83237484 [A/G] rs140598062 1 83240210 [A/G] rs11163571 1 83241608 [A/G] rs7531603 1 83245723 [A/G] rs76412049 1 83252700 [T/G] rs438697 1 83253132 [A/C] rs17506077 1 83253611 [T/C] JHU_1.83256783 1 83256784 [T/C] rs7536946 1 83257275 [A/G] rs7536953 1 83257287 [A/G] rs6429838 1 83262934 [A/G] rs6685504 1 83263047 [T/G] rs115922495 1 83263136 [A/G] rs6700337 1 83263603 [A/G] JHU_1.83264109 1 83264110 [A/G] rs6657281 1 83266670 [T/C] rs6660078 1 83266993 [T/C] JHU_1.83268186 1 83268187 [A/C] JHU_1.83268341 1 83268342 [A/G] rs480745 1 83269970 [A/G] JHU_1.83272578 1 83272579 [A/G] rs12061327 1 83273209 [G/C] rs148441175 1 83276240 [A/G] rs2209013 1 83279337 [A/G] rs60374433 1 83283089 [A/C] rs563093 1 83284562 [A/G] rs17109243 1 83285413 [A/C] rs1409794 1 83286903 [T/C] rs12120783 1 83289913 [T/G] rs59794412 1 83291955 [T/C] rs72724301 1 83292596 [T/C] rs61767687 1 83293110 [A/C] JHU_1.83295040 1 83295041 [A/G] JHU_1.83295785 1 83295786 [A/G] JHU_1.83296108 1 83296109 [T/C] rs76501946 1 83297690 [A/G] rs11163582 1 83297866 [T/C] rs10782797 1 83298665 [A/G] rs115066107 1 83299949 [A/G] JHU_1.83300092 1 83300093 [A/G] JHU_1.83307636 1 83307637 [T/C] rs533864 1 83307936 [T/C] rs12139396 1 83311014 [T/C] rs142051878 1 83311145 [T/C] rs11163585 1 83311835 [T/C] exm-rs11163585 1 83311835 [T/C] rs146594686 1 83312219 [T/C] rs75159169 1 83312751 [A/G] rs144458640 1 83314995 [T/G] rs75466781 1 83325646 [A/G] rs1899104 1 83328462 [A/G] rs7532665 1 83331118 [A/G] JHU_1.83333887 1 83333888 [G/C] rs115279863 1 83334101 [T/C] rs77993548 1 83335158 [T/C] JHU_1.83336546 1 83336547 [A/G] rs988424 1 83339078 [A/G] rs35417965 1 83340494 [T/C] JHU_1.83341145 1 83341146 [T/C] rs74974529 1 83347094 [C/G] JHU_1.83347428 1 83347429 [A/G] JHU_1.83347775 1 83347776 [A/G] rs111336618 1 83350010 [T/C] rs403322 1 83356281 [T/C] JHU_1.83359479 1 83359480 [G/C] rs80327898 1 83359635 [C/G] rs11163602 1 83364553 [A/G] JHU_1.83365460 1 83365461 [T/C] rs1144250 1 83371416 [T/C] NR_147074 LINC01362 Silent rs189932524 1 83374174 [T/G] NR_147074 LINC01362 Silent JHU_1.83386798 1 83386799 [A/G] NR_147074 LINC01362 Silent rs75123611 1 83387012 [A/G] NR_147074 LINC01362 Silent JHU_1.83398363 1 83398364 [T/A] NR_147074 LINC01362 Silent rs35356603 1 83403767 [A/C] NR_147074 LINC01362 Silent rs7411897 1 83405844 [A/G] NR_147074 LINC01362 Silent rs114089454 1 83410972 [G/C] NR_147074 LINC01362 Silent rs141270173 1 83412379 [T/C] NR_147074 LINC01362 Silent JHU_1.83415724 1 83415725 [A/G] NR_147074 LINC01362 Silent rs17109458 1 83416943 [A/G] NR_147074 LINC01362 Silent JHU_1.83432984 1 83432985 [A/C] NR_147074 LINC01362 Silent rs77044600 1 83435412 [T/C] NR_147074 LINC01362 Silent JHU_1.83435949 1 83435950 [A/C] NR_147074 LINC01362 Silent rs142757404 1 83446137 [T/C] NR_147074,NR_110632,NR_110633 LINC01362,LINC01361,LINC01361 Silent,Silent,Silent rs10782802 1 83447063 [T/G] NR_147074,NR_110632,NR_110633 LINC01362,LINC01361,LINC01361 Silent,Silent,Silent rs10493734 1 83448642 [T/C] NR_147074,NR_110632,NR_110633 LINC01362,LINC01361,LINC01361 Silent,Silent,Silent rs1561597 1 83454227 [T/C] NR_147074 LINC01362 Silent rs76650481 1 83454327 [A/T] NR_147074 LINC01362 Silent JHU_1.83459760 1 83459761 [T/C] NR_147074 LINC01362 Silent JHU_1.83460296 1 83460297 [A/G] NR_147074 LINC01362 Silent rs10874349 1 83464028 [T/C] NR_147074 LINC01362 Silent 1:83465213-T-C 1 83465213 [T/C] NR_147074 LINC01362 Silent rs6659184 1 83465396 [T/C] NR_147074 LINC01362 Silent JHU_1.83468984 1 83468985 [A/G] NR_147074 LINC01362 Silent JHU_1.83469165 1 83469166 [A/G] NR_147074 LINC01362 Silent JHU_1.83469223 1 83469224 [T/G] NR_147074 LINC01362 Silent JHU_1.83469239 1 83469240 [T/C] NR_147074 LINC01362 Silent JHU_1.83469263 1 83469264 [A/G] NR_147074 LINC01362 Silent JHU_1.83469366 1 83469367 [T/C] NR_147074 LINC01362 Silent rs146791983 1 83472673 [T/C] NR_147074 LINC01362 Silent JHU_1.83473364 1 83473365 [A/G] NR_147074 LINC01362 Silent JHU_1.83473596 1 83473597 [A/C] NR_147074 LINC01362 Silent rs2184006 1 83474843 [T/C] NR_147074 LINC01362 Silent rs148977041 1 83477810 [A/C] NR_147074 LINC01362 Silent rs12125172 1 83479656 [T/G] NR_147074 LINC01362 Silent JHU_1.83480830 1 83480831 [T/C] NR_147074 LINC01362 Silent rs12743781 1 83481566 [A/G] NR_147074 LINC01362 Silent rs3738678 1 83482711 [T/C] NR_147074 LINC01362 Silent rs12732417 1 83482870 [A/G] NR_147074 LINC01362 Silent JHU_1.83484684 1 83484685 [A/G] NR_147074 LINC01362 Silent rs944726 1 83489466 [T/C] NR_147074 LINC01362 Silent rs12742923 1 83489844 [T/C] NR_147074 LINC01362 Silent rs944727 1 83490060 [A/T] NR_147074 LINC01362 Silent rs11163639 1 83490266 [A/G] NR_147074 LINC01362 Silent JHU_1.83492026 1 83492027 [A/C] NR_147074 LINC01362 Silent rs11163640 1 83493060 [T/C] NR_147074 LINC01362 Silent rs180781850 1 83493073 [T/C] NR_147074 LINC01362 Silent JHU_1.83500111 1 83500112 [C/G] NR_147074 LINC01362 Silent 1:83500368-G-A 1 83500368 [A/G] NR_147074 LINC01362 Silent rs143802427 1 83504618 [T/C] NR_147074 LINC01362 Silent rs144195547 1 83504984 [A/G] NR_147074 LINC01362 Silent JHU_1.83505558 1 83505559 [A/C] NR_147074 LINC01362 Silent rs12409252 1 83507314 [T/C] NR_147074 LINC01362 Silent rs34627032 1 83519409 [A/G] NR_147074 LINC01362 Silent JHU_1.83519408 1 83519409 [A/G] NR_147074 LINC01362 Silent rs12132477 1 83520031 [T/C] NR_147074 LINC01362 Silent rs145818884 1 83520124 [G/C] NR_147074 LINC01362 Silent JHU_1.83521152 1 83521153 [A/C] NR_147074 LINC01362 Silent JHU_1.83521166 1 83521167 [A/C] NR_147074 LINC01362 Silent rs140886352 1 83522204 [A/G] NR_147074 LINC01362 Silent JHU_1.83523640 1 83523641 [T/C] NR_147074 LINC01362 Silent rs76411215 1 83524032 [G/C] NR_147074 LINC01362 Silent rs72713135 1 83526797 [A/G] NR_147074 LINC01362 Silent rs2022015 1 83528240 [A/G] NR_147074 LINC01362 Silent JHU_1.83533023 1 83533024 [T/G] NR_147074 LINC01362 Silent rs115008859 1 83543275 [A/G] NR_147074 LINC01362 Silent JHU_1.83547959 1 83547960 [A/G] NR_147074 LINC01362 Silent rs17518182 1 83548151 [T/C] NR_147074 LINC01362 Silent rs6676907 1 83548341 [T/C] NR_147074 LINC01362 Silent rs114807911 1 83551435 [T/C] NR_147074 LINC01362 Silent rs2389394 1 83552647 [T/C] NR_147074 LINC01362 Silent rs75832611 1 83553297 [T/A] NR_147074 LINC01362 Silent rs323932 1 83553972 [A/C] NR_147074 LINC01362 Silent rs72940266 1 83559549 [A/T] NR_147074 LINC01362 EXON Silent rs12072235 1 83561954 [A/G] NR_147074 LINC01362 Silent rs12127333 1 83562338 [A/G] NR_147074 LINC01362 Silent rs323943 1 83564809 [T/G] NR_147074 LINC01362 Silent JHU_1.83568636 1 83568637 [T/G] NR_147074 LINC01362 Silent exm2268715 1 83570271 [T/C] NR_147074 LINC01362 Silent rs387289 1 83571706 [T/C] NR_147074 LINC01362 Silent rs537877 1 83572881 [T/G] NR_147074 LINC01362 Silent JHU_1.83576559 1 83576560 [T/C] NR_147074 LINC01362 Silent rs147355402 1 83576927 [T/C] NR_147074 LINC01362 Silent rs116789034 1 83585583 [A/G] NR_147074 LINC01362 Silent rs6682943 1 83585592 [A/C] NR_147074 LINC01362 Silent rs6693586 1 83586063 [T/C] NR_147074 LINC01362 Silent rs323940 1 83587246 [T/C] NR_147074 LINC01362 Silent rs12239762 1 83590789 [A/G] NR_147074 LINC01362 Silent JHU_1.83595569 1 83595570 [T/G] NR_147074 LINC01362 Silent rs10487982 1 83596112 [T/G] NR_147074 LINC01362 Silent rs146476073 1 83603292 [T/C] NR_147074 LINC01362 Silent JHU_1.83612846 1 83612847 [A/T] NR_147074 LINC01362 Silent rs141425748 1 83613475 [A/G] NR_147074 LINC01362 Silent rs145909045 1 83614370 [A/G] NR_147074 LINC01362 Silent JHU_1.83616278 1 83616279 [A/G] NR_147074 LINC01362 Silent JHU_1.83618496 1 83618497 [A/C] NR_147074 LINC01362 Silent JHU_1.83626639 1 83626640 [A/G] NR_147074 LINC01362 Silent JHU_1.83630608 1 83630609 [A/G] NR_147074 LINC01362 Silent rs12039790 1 83633428 [T/C] JHU_1.83641376 1 83641377 [A/G] JHU_1.83646608 1 83646609 [A/C] JHU_1.83654804 1 83654805 [A/G] JHU_1.83655376 1 83655377 [A/G] JHU_1.83656209 1 83656210 [A/G] rs3844265 1 83656966 [A/G] JHU_1.83658586 1 83658587 [C/G] JHU_1.83659675 1 83659676 [A/C] JHU_1.83660287 1 83660288 [T/C] rs201905322 1 83660393 [A/G] rs184670980 1 83663782 [T/C] rs191023672 1 83673153 [T/A] rs4907184 1 83678942 [A/G] rs61790408 1 83679443 [T/C] rs4571984 1 83684019 [T/A] rs142894533 1 83684403 [A/C] JHU_1.83684587 1 83684588 [A/G] JHU_1.83695745 1 83695746 [T/C] JHU_1.83697593 1 83697594 [A/C] JHU_1.83697641 1 83697642 [A/G] JHU_1.83701312 1 83701313 [T/C] rs12403322 1 83701728 [A/G] rs3901605 1 83703212 [A/G] JHU_1.83709757 1 83709758 [A/C] rs367722057 1 83710597 [A/G] JHU_1.83711100 1 83711101 [A/G] rs12033542 1 83712453 [T/G] rs113358445 1 83716801 [A/T] rs184122986 1 83720222 [A/C] JHU_1.83722159 1 83722160 [A/G] JHU_1.83724241 1 83724242 [A/G] rs3904791 1 83724335 [T/C] rs189976994 1 83725946 [A/G] JHU_1.83740949 1 83740950 [T/C] JHU_1.83741016 1 83741017 [A/C] rs144791298 1 83749220 [T/A] JHU_1.83752457 1 83752458 [T/C] JHU_1.83753642 1 83753643 [A/C] JHU_1.83755622 1 83755623 [A/G] rs11163705 1 83755978 [A/G] JHU_1.83755977 1 83755978 [A/G] JHU_1.83758588 1 83758589 [A/C] JHU_1.83775378 1 83775379 [T/C] JHU_1.83780415 1 83780416 [T/A] rs3861689 1 83785316 [A/G] JHU_1.83786392 1 83786393 [A/T] JHU_1.83786642 1 83786643 [T/C] rs75289970 1 83786643 [T/C] JHU_1.83788250 1 83788251 [T/A] JHU_1.83788565 1 83788566 [A/T] rs11163718 1 83789268 [A/G] rs3864596 1 83795950 [A/C] rs10127548 1 83796651 [T/C] JHU_1.83798241 1 83798242 [T/C] JHU_1.83798859 1 83798860 [A/G] rs10782805 1 83800141 [T/C] JHU_1.83807661 1 83807662 [T/C] rs1856150 1 83808282 [A/G] JHU_1.83808957 1 83808958 [T/G] rs147983985 1 83810798 [A/C] rs149590453 1 83811322 [G/C] rs140154274 1 83814216 [G/C] rs3956418 1 83829357 [A/G] JHU_1.83830203 1 83830204 [T/C] rs142144925 1 83831967 [T/C] rs12408136 1 83834902 [T/C] rs148388381 1 83839669 [A/G] JHU_1.83840173 1 83840174 [T/C] rs9970682 1 83840725 [T/C] 1:83840830-A-T 1 83840830 [A/T] rs147565043 1 83846410 [T/C] JHU_1.83846539 1 83846540 [G/C] 1:83847305-G-A 1 83847305 [A/G] rs147198398 1 83848854 [T/G] JHU_1.83849113 1 83849114 [A/G] JHU_1.83855792 1 83855793 [T/C] rs4907021 1 83857369 [A/G] rs12139544 1 83863396 [T/C] JHU_1.83864097 1 83864098 [T/A] JHU_1.83867653 1 83867654 [T/A] JHU_1.83868231 1 83868232 [T/C] JHU_1.83868843 1 83868844 [C/G] JHU_1.83869679 1 83869680 [A/T] rs116467732 1 83871551 [A/G] JHU_1.83872887 1 83872888 [A/G] JHU_1.83878958 1 83878959 [T/C] JHU_1.83879270 1 83879271 [T/C] JHU_1.83879757 1 83879758 [T/C] JHU_1.83880922 1 83880923 [A/G] rs139236675 1 83881915 [A/G] rs188702632 1 83882019 [T/C] rs61790812 1 83882913 [T/C] JHU_1.83886301 1 83886302 [T/C] rs4907027 1 83886390 [T/C] 1:83891957-C-T 1 83891957 [T/C] JHU_1.83894142 1 83894143 [T/G] JHU_1.83897336 1 83897337 [A/G] rs12038205 1 83897416 [T/C] JHU_1.83898063 1 83898064 [G/C] JHU_1.83901255 1 83901256 [A/G] JHU_1.83903782 1 83903783 [A/C] rs141144697 1 83904292 [T/C] rs4907141 1 83905111 [T/G] rs35835790 1 83905323 [T/C] rs367596912 1 83910626 [T/C] JHU_1.83911720 1 83911721 [A/G] JHU_1.83911786 1 83911787 [T/C] NR_146478 LINC01712 EXON Silent JHU_1.83912465 1 83912466 [A/C] NR_146478 LINC01712 Silent JHU_1.83920920 1 83920921 [T/C] JHU_1.83927776 1 83927777 [A/G] JHU_1.83928000 1 83928001 [T/C] JHU_1.83928030 1 83928031 [A/G] JHU_1.83930520 1 83930521 [T/C] rs11163752 1 83934440 [T/C] JHU_1.83936089 1 83936090 [T/G] rs4079125 1 83936537 [T/C] JHU_1.83937931 1 83937932 [T/C] JHU_1.83938228 1 83938229 [C/G] JHU_1.83940457 1 83940458 [A/G] JHU_1.83943420 1 83943421 [T/C] rs144383576 1 83943444 [A/G] JHU_1.83943832 1 83943833 [T/C] JHU_1.83945964 1 83945965 [A/G] JHU_1.83951144 1 83951145 [A/G] JHU_1.83953021 1 83953022 [A/G] JHU_1.83953067 1 83953068 [T/G] JHU_1.83953119 1 83953120 [T/C] rs12082801 1 83958040 [T/C] rs12723007 1 83958331 [A/G] rs17503362 1 83959631 [A/G] rs7535867 1 83961744 [T/C] rs113721265 1 83963692 [A/G] rs11163755 1 83967528 [A/G] rs6660757 1 83971065 [T/G] rs116554022 1 83973047 [T/C] rs17130581 1 83976047 [T/C] rs12133691 1 83977839 [A/G] rs12040151 1 83980082 [T/C] rs61792576 1 83984478 [A/G] rs12133815 1 83985286 [A/G] rs12568728 1 83987643 [T/C] JHU_1.83991934 1 83991935 [A/G] rs76951760 1 83994465 [A/C] rs4543816 1 83996927 [T/C] rs11808354 1 83997126 [A/G] rs6657166 1 84000107 [A/G] rs4907144 1 84002236 [A/G] rs148053327 1 84008870 [A/G] rs10499825 1 84009549 [A/G] rs977889 1 84012000 [A/G] rs138760559 1 84012696 [G/C] JHU_1.84013630 1 84013631 [T/G] rs61792584 1 84017285 [T/C] rs76616580 1 84021628 [A/G] rs112156134 1 84022099 [T/C] rs11163765 1 84024059 [T/C] rs12025304 1 84025460 [A/G] rs12037871 1 84027396 [T/C] JHU_1.84027533 1 84027534 [T/C] 1:84028006-A-G 1 84028006 [A/G] rs11585440 1 84028076 [T/C] JHU_1.84028254 1 84028255 [T/C] rs4465227 1 84032486 [T/C] rs4243779 1 84032625 [T/C] rs116675320 1 84033013 [A/G] rs12124087 1 84033162 [T/C] rs61279287 1 84033580 [T/C] rs4907029 1 84033809 [T/C] JHU_1.84034386 1 84034387 [A/G] rs72709106 1 84034387 [A/G] rs6704084 1 84034548 [A/G] rs12731158 1 84035739 [A/G] JHU_1.84037585 1 84037586 [A/C] rs113672511 1 84041953 [A/G] NR_119375 LINC01725 EXON Silent rs12082018 1 84054569 [A/G] NR_119375 LINC01725 Silent rs72709117 1 84056045 [A/G] NR_119375 LINC01725 Silent rs6661191 1 84057173 [A/G] NR_119375 LINC01725 Silent rs12738873 1 84058458 [A/G] NR_119375 LINC01725 Silent JHU_1.84062126 1 84062127 [T/C] NR_119375 LINC01725 Silent rs4128486 1 84062434 [A/G] NR_119375 LINC01725 Silent rs11800548 1 84062849 [T/C] NR_119375 LINC01725 Silent rs4907154 1 84062884 [A/G] NR_119375 LINC01725 Silent rs74094480 1 84063977 [T/C] NR_119375 LINC01725 Silent rs140252455 1 84065842 [A/T] NR_119375 LINC01725 Silent rs6660879 1 84073640 [T/C] NR_119375 LINC01725 Silent JHU_1.84074358 1 84074359 [A/C] NR_119375 LINC01725 Silent rs141655189 1 84077561 [T/G] NR_119375 LINC01725 Silent rs7520504 1 84078157 [A/G] NR_119375 LINC01725 Silent JHU_1.84080528 1 84080529 [A/G] NR_119375 LINC01725 Silent rs12727880 1 84080529 [A/G] NR_119375 LINC01725 Silent rs184285454 1 84084030 [T/C] NR_119375 LINC01725 Silent rs145242300 1 84084405 [C/G] NR_119375 LINC01725 Silent rs12061515 1 84085840 [A/G] NR_119375 LINC01725 Silent JHU_1.84089998 1 84089999 [T/C] NR_119375 LINC01725 Silent JHU_1.84090414 1 84090415 [A/G] NR_119375 LINC01725 Silent rs12563303 1 84094411 [A/G] NR_119375 LINC01725 Silent JHU_1.84102124 1 84102125 [A/C] NR_119375 LINC01725 Silent rs8179363 1 84107543 [A/C] NR_119375 LINC01725 Silent rs74864726 1 84108318 [T/C] NR_119375 LINC01725 Silent rs11163794 1 84111016 [T/C] NR_119375 LINC01725 Silent JHU_1.84112324 1 84112325 [T/C] NR_119375 LINC01725 Silent exm2268906 1 84112571 [T/C] NR_119375 LINC01725 Silent rs4539154 1 84113159 [A/G] NR_119375 LINC01725 Silent rs10782813 1 84116142 [A/G] NR_119375 LINC01725 Silent rs11163797 1 84116309 [A/G] NR_119375 LINC01725 Silent rs11163798 1 84117891 [T/C] NR_119375 LINC01725 Silent rs115925465 1 84120669 [A/G] NR_119375 LINC01725 Silent rs10157369 1 84120728 [A/G] NR_119375 LINC01725 Silent rs12083227 1 84122147 [G/C] NR_119375 LINC01725 Silent rs12135251 1 84122334 [T/G] NR_119375 LINC01725 Silent 1:84122852-G-C 1 84122852 [G/C] NR_119375 LINC01725 Silent rs10218473 1 84122965 [T/A] NR_119375 LINC01725 Silent rs74096420 1 84123821 [A/G] NR_119375 LINC01725 Silent JHU_1.84124000 1 84124001 [A/G] NR_119375 LINC01725 Silent JHU_1.84125240 1 84125241 [T/C] NR_119375 LINC01725 Silent rs77258906 1 84126004 [T/C] NR_119375 LINC01725 Silent rs74096427 1 84128986 [A/G] NR_119375 LINC01725 Silent 1:84129564-C-T 1 84129564 [T/C] NR_119375 LINC01725 Silent rs115364950 1 84130020 [A/T] NR_119375 LINC01725 Silent rs12087138 1 84130211 [T/G] NR_119375 LINC01725 Silent rs12087224 1 84130384 [A/G] NR_119375 LINC01725 Silent rs11485345 1 84134042 [A/G] NR_119375 LINC01725 Silent rs10747406 1 84142157 [G/C] NR_119375 LINC01725 Silent rs12098061 1 84146671 [A/G] NR_119375 LINC01725 Silent rs74096460 1 84148404 [T/C] NR_119375 LINC01725 Silent rs11163801 1 84149799 [T/C] NR_119375 LINC01725 Silent JHU_1.84159768 1 84159769 [A/G] NR_119375 LINC01725 Silent rs11801061 1 84159928 [A/T] NR_119375 LINC01725 Silent rs77949531 1 84160532 [T/C] NR_119375 LINC01725 Silent JHU_1.84161731 1 84161732 [A/G] NR_119375 LINC01725 Silent rs79819069 1 84162509 [A/G] NR_119375 LINC01725 Silent rs147537798 1 84162899 [T/C] NR_119375 LINC01725 Silent rs113587659 1 84163153 [A/G] NR_119375 LINC01725 Silent rs190883082 1 84167124 [A/G] NR_119375 LINC01725 Silent rs12078132 1 84168129 [A/G] NR_119375 LINC01725 Silent rs116580760 1 84168412 [T/C] NR_119375 LINC01725 Silent rs10082163 1 84168557 [A/C] NR_119375 LINC01725 Silent rs11163805 1 84168682 [T/C] NR_119375 LINC01725 Silent rs12031465 1 84172336 [A/G] NR_119375 LINC01725 Silent rs7414950 1 84172930 [A/G] NR_119375 LINC01725 Silent rs6667561 1 84173558 [T/C] NR_119375 LINC01725 Silent rs34803415 1 84173927 [A/G] NR_119375 LINC01725 Silent JHU_1.84173926 1 84173927 [A/G] NR_119375 LINC01725 Silent rs6702907 1 84175290 [T/G] NR_119375 LINC01725 Silent rs6576929 1 84178304 [T/C] NR_119375 LINC01725 Silent JHU_1.84179987 1 84179988 [A/G] NR_119375 LINC01725 Silent rs6689132 1 84181060 [A/G] NR_119375 LINC01725 Silent JHU_1.84183391 1 84183392 [A/G] NR_119375 LINC01725 Silent JHU_1.84184974 1 84184975 [A/C] NR_119375 LINC01725 Silent rs4636482 1 84190263 [A/G] NR_119375 LINC01725 Silent JHU_1.84190674 1 84190675 [A/G] NR_119375 LINC01725 Silent rs114395023 1 84191426 [A/G] NR_119375 LINC01725 Silent JHU_1.84194513 1 84194514 [T/C] NR_119375 LINC01725 Silent rs77099712 1 84195247 [T/C] NR_119375 LINC01725 Silent rs12066863 1 84195706 [T/C] NR_119375 LINC01725 Silent rs9787364 1 84196920 [T/C] NR_119375 LINC01725 Silent rs9787335 1 84197066 [A/G] NR_119375 LINC01725 Silent JHU_1.84197405 1 84197406 [A/G] NR_119375 LINC01725 Silent JHU_1.84197722 1 84197723 [A/C] NR_119375 LINC01725 Silent JHU_1.84199105 1 84199106 [A/G] NR_119375 LINC01725 Silent JHU_1.84199799 1 84199800 [A/G] NR_119375 LINC01725 Silent rs141019334 1 84201649 [T/G] NR_119375 LINC01725 Silent rs10782817 1 84201658 [T/C] NR_119375 LINC01725 Silent rs17577039 1 84204198 [A/G] NR_119375 LINC01725 Silent JHU_1.84208413 1 84208414 [A/G] NR_119375 LINC01725 Silent rs375373435 1 84212496 [T/C] NR_119375 LINC01725 Silent rs41292993 1 84215859 [T/C] NR_119375 LINC01725 Silent rs6691243 1 84216308 [T/C] NR_119375 LINC01725 Silent rs761401 1 84217159 [T/C] NR_119375 LINC01725 Silent JHU_1.84221385 1 84221386 [T/C] NR_119375 LINC01725 Silent rs113067050 1 84221854 [A/T] NR_119375 LINC01725 Silent rs7547085 1 84222134 [A/G] NR_119375 LINC01725 Silent rs78163567 1 84222671 [T/G] NR_119375 LINC01725 Silent rs6682282 1 84223416 [A/G] NR_119375 LINC01725 Silent JHU_1.84226423 1 84226424 [A/G] NR_119375 LINC01725 Silent JHU_1.84227168 1 84227169 [A/G] NR_119375 LINC01725 Silent JHU_1.84227706 1 84227707 [C/G] NR_119375 LINC01725 Silent rs143605574 1 84228082 [T/G] NR_119375 LINC01725 Silent rs17129251 1 84228589 [A/G] NR_119375 LINC01725 Silent JHU_1.84230804 1 84230805 [A/G] NR_119375 LINC01725 Silent rs6661582 1 84231893 [A/G] NR_119375 LINC01725 Silent rs17129289 1 84232748 [T/C] NR_119375 LINC01725 Silent rs17129321 1 84234973 [T/C] NR_119375 LINC01725 Silent rs184563729 1 84236130 [T/C] NR_119375 LINC01725 Silent rs7524397 1 84236405 [T/C] NR_119375 LINC01725 Silent rs10489502 1 84236661 [T/C] NR_119375 LINC01725 Silent JHU_1.84236704 1 84236705 [T/G] NR_119375 LINC01725 Silent JHU_1.84237074 1 84237075 [A/G] NR_119375 LINC01725 Silent rs10874421 1 84239184 [T/C] NR_119375 LINC01725 Silent JHU_1.84244064 1 84244065 [A/G] NR_119375 LINC01725 Silent rs17129415 1 84246066 [A/G] NR_119375 LINC01725 Silent rs78417642 1 84247696 [C/G] NR_119375 LINC01725 Silent JHU_1.84251439 1 84251440 [A/T] NR_119375 LINC01725 Silent JHU_1.84252334 1 84252335 [T/C] NR_119375 LINC01725 Silent JHU_1.84252881 1 84252882 [A/G] NR_119375 LINC01725 Silent exm-rs7552393 1 84254551 [A/G] NR_119375 LINC01725 Silent exm-rs7539409 1 84254735 [A/G] NR_119375 LINC01725 Silent rs6699405 1 84258609 [A/G] NR_119375 LINC01725 Silent rs61766252 1 84259264 [A/G] NR_119375 LINC01725 Silent rs59254604 1 84263108 [A/G] NR_119375 LINC01725 Silent rs12144651 1 84263338 [A/C] NR_119375 LINC01725 Silent rs2143757 1 84266791 [A/G] NR_119375 LINC01725 Silent rs761406 1 84267183 [G/C] NR_119375 LINC01725 Silent rs4140462 1 84269299 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs7515975 1 84271895 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs190303829 1 84272644 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs1040576 1 84274266 [T/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs7515312 1 84277207 [T/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs11163849 1 84281197 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs77023397 1 84283454 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs12083999 1 84287873 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs79685356 1 84288483 [G/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs139970278 1 84292142 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent JHU_1.84294114 1 84294115 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs79531299 1 84294847 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs141814954 1 84294862 [T/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent exm2264866 1 84295861 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs144083133 1 84296017 [C/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs970457 1 84296540 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs3738575 1 84296983 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent JHU_1.84297212 1 84297213 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs78540189 1 84298964 [A/T] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs11163856 1 84303560 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs79356932 1 84303916 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs1408477 1 84304441 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent JHU_1.84309417 1 84309418 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent JHU_1.84320480 1 84320481 [C/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs12137971 1 84321093 [T/A] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs11163858 1 84321948 [A/G] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs188258209 1 84322255 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs12027679 1 84325684 [T/C] NR_119375,NR_119374 LINC01725,LOC101927560 Silent,Silent rs72722877 1 84326233 [G/C] NR_119375 LINC01725 Silent rs200280640 1 84327804 [A/C] rs12144066 1 84332373 [T/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Silent,Silent,Silent rs151213831 1 84335165 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Silent,Silent,Silent 1:84339098-G-T 1 84339098 [T/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent JHU_1.84341060 1 84341061 [T/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs75407977 1 84345303 [C/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent JHU_1.84345744 1 84345745 [A/T] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent exm1913028 1 84348787 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_P801L,Missense_P774L,Missense_P801L exm70749 1 84348801 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_I796M,Missense_I769M,Missense_I796M JHU_1.84349825 1 84349826 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs116330952 1 84354356 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent 1:84356040-CT 1 84356040 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_R778H,Missense_R751H,Missense_R778H exm70755 1 84356065 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_V770I,Missense_V743I,Missense_V770I JHU_1.84359080 1 84359081 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs181580555 1 84364582 [A/T] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent JHU_1.84365787 1 84365788 [A/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs1570691 1 84370393 [A/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent exm70765 1 84372134 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_R669W,Missense_R642W,Missense_R669W 1:84373222-GA 1 84373222 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_R637W,Missense_R610W,Missense_R637W 1:84373239-CA 1 84373239 [A/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_R631L,Missense_R604L,Missense_R631L exm70770 1 84373276 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_R619C,Missense_R592C,Missense_R619C exm70773 1 84373309 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_I608V,Missense_I581V,Missense_I608V exm70775 1 84376849 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Synonymous_P595P,Synonymous_P568P,Synonymous_P595P 1:84376920-TC 1 84376920 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_N572D,Missense_N545D,Missense_N572D rs41313345 1 84378734 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent exm70782 1 84383302 [A/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_K524N,Missense_K497N,Missense_K524N rs1324485 1 84384549 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs1324486 1 84384825 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent 1:84385492-CT 1 84385492 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_A464T,Missense_A437T,Missense_A464T rs77003746 1 84386157 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs10465746 1 84387632 [T/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent JHU_1.84389061 1 84389062 [G/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs6699639 1 84390154 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs12094835 1 84394792 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs140535332 1 84405897 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent 1:84414327-CA 1 84414327 [A/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_A111S,Missense_A84S,Missense_A111S JHU_1.84414993 1 84414994 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent exm70816 1 84415626 [T/A] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_D67E,Missense_D40E,Missense_D67E exm70817 1 84415640 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_M63V,Missense_M36V,Missense_M63V 1:84416153-T-C 1 84416153 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs12757632 1 84416408 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent JHU_1.84417500 1 84417501 [A/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent exm70821 1 84417585 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_K34E,Missense_K7E,Missense_K34E exm70822 1 84417642 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_P15S,Silent,Missense_P15S exm70824 1 84417879 [C/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 EXON Missense_Q6E,Silent,Missense_Q6E rs137991827 1 84423977 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent JHU_1.84425767 1 84425768 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs17535312 1 84426646 [A/T] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs114718239 1 84431292 [T/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs12759527 1 84434425 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs512737 1 84435181 [A/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs663136 1 84437311 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs147474564 1 84440163 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent JHU_1.84441207 1 84441208 [G/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent JHU_1.84441715 1 84441716 [C/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent 1:84443552-T-C 1 84443552 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs12042443 1 84444766 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent rs10874426 1 84451820 [A/G] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent JHU_1.84459874 1 84459875 [T/C] NM_001350214,NM_001350215,NM_024686 TTLL7,TTLL7,TTLL7 Silent,Silent,Silent JHU_1.84465056 1 84465057 [G/C] rs117823159 1 84467439 [A/G] rs78179018 1 84475548 [T/C] rs145145564 1 84476868 [A/C] rs140684951 1 84479027 [A/G] rs12401314 1 84480212 [T/G] rs113557249 1 84486821 [G/C] rs115533712 1 84487357 [A/G] rs111934986 1 84487501 [A/T] rs139856239 1 84489606 [C/G] JHU_1.84495463 1 84495464 [A/G] rs116036616 1 84496711 [T/C] rs78147290 1 84498463 [T/G] rs615352 1 84499003 [T/C] JHU_1.84501019 1 84501020 [A/G] JHU_1.84506657 1 84506658 [T/C] rs148374424 1 84507773 [A/G] JHU_1.84509489 1 84509490 [T/A] rs670564 1 84514988 [A/G] rs11163895 1 84526329 [T/C] rs75075080 1 84527285 [A/G] rs3903924 1 84528434 [T/G] rs11163896 1 84530613 [T/C] rs75493233 1 84532770 [T/C] rs11811024 1 84533382 [A/C] rs34972329 1 84538013 [T/G] rs11163897 1 84539714 [T/C] JHU_1.84540209 1 84540210 [T/G] rs10430066 1 84541666 [T/C] rs12563929 1 84548284 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs78330882 1 84549219 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs6701486 1 84550849 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs7546625 1 84552606 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs79079497 1 84554005 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent exm2253446 1 84555908 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent JHU_1.84558801 1 84558802 [T/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs61766953 1 84561795 [C/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs2812452 1 84576203 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs12057561 1 84584894 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs34495740 1 84587163 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs12723299 1 84590315 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs1021492 1 84591158 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs138382566 1 84604259 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent JHU_1.84608437 1 84608438 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent variant.4448 1 84610102 [T/C] NM_002731,NM_207578,NM_182948,NM_001300916 PRKACB,PRKACB,PRKACB,PRKACB EXON Silent,Silent,Nonsense_Q20X,Nonsense_Q20X 1:84610154-CT 1 84610154 [T/C] NM_002731,NM_207578,NM_182948,NM_001300916 PRKACB,PRKACB,PRKACB,PRKACB EXON Silent,Silent,Missense_T37I,Missense_T37I rs76554901 1 84618726 [A/G] NM_002731,NM_207578,NM_182948,NM_001300916 PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent rs75752711 1 84622293 [T/C] NM_002731,NM_207578,NM_182948,NM_001300916 PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent rs903263 1 84622513 [T/G] NM_002731,NM_207578,NM_182948,NM_001300916 PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent JHU_1.84627435 1 84627436 [A/G] NM_002731,NM_207578,NM_182948,NM_001300916 PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent 1:84630100-GT 1 84630100 [T/G] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Silent,Silent,Silent,Silent,Missense_G2V,Missense_G2V,Missense_G2V,Missense_G2V rs12077806 1 84635101 [T/C] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs141083223 1 84636344 [A/G] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:84639015-GA 1 84639015 [A/G] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Silent,Silent,Silent,Silent,Silent,Missense_R5H,Silent,Missense_R5H,Missense_R4H,Missense_R4H,Missense_R4H 1:84640719-GT 1 84640719 [T/G] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Silent,Silent,Silent,Silent,Silent,Missense_C13F,Silent,Missense_C13F,Missense_C12F,Missense_C12F,Missense_C12F 1:84647362-CA 1 84647362 [A/C] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S7Y rs7547892 1 84658591 [A/G] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs603939 1 84667452 [T/C] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs374415559 1 84668906 [A/G] NM_002731,NM_207578,NM_182948,NM_001300916,NM_001300917,NM_001242857,NM_001242858,NM_001242859,NM_001300915,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs78959098 1 84675275 [T/C] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.84676801 1 84676802 [G/C] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.84677267 1 84677268 [G/C] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.84677580 1 84677581 [T/C] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.84678143 1 84678144 [T/C] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs970318 1 84682179 [A/G] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs636247 1 84688973 [A/T] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.84691847 1 84691848 [A/C] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent JHU_1.84691963 1 84691964 [A/T] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12070215 1 84692710 [A/G] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs147599425 1 84694043 [T/C] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11163923 1 84700766 [T/C] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent 1:84700941-CT 1 84700941 [T/C] NM_002731,NM_182948,NM_001242857,NM_001242858,NM_001242859,NM_001242861,NM_001242860,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Missense_R337C,Missense_R384C,Missense_R344C,Missense_R325C,Missense_R341C,Missense_R307C,Missense_R343C,Missense_R324C rs787858 1 84705481 [A/C] JHU_1.84705585 1 84705586 [T/C] JHU_1.84708890 1 84708891 [T/C] JHU_1.84710541 1 84710542 [A/G] rs72940043 1 84710663 [T/C] rs605969 1 84720173 [A/G] rs4907047 1 84720776 [A/G] rs634904 1 84722102 [A/G] rs583720 1 84722166 [A/G] JHU_1.84726944 1 84726945 [C/G] JHU_1.84731250 1 84731251 [A/G] JHU_1.84731455 1 84731456 [C/G] JHU_1.84731603 1 84731604 [T/C] JHU_1.84731666 1 84731667 [T/C] rs74095517 1 84732188 [T/G] JHU_1.84732528 1 84732529 [A/G] JHU_1.84732778 1 84732779 [A/G] rs178425 1 84735308 [T/C] rs316686 1 84735710 [A/G] JHU_1.84736373 1 84736374 [T/C] JHU_1.84736816 1 84736817 [T/C] rs616472 1 84737302 [T/C] rs12060050 1 84738166 [A/G] rs316680 1 84740532 [T/G] JHU_1.84745602 1 84745603 [T/C] JHU_1.84746532 1 84746533 [T/C] JHU_1.84746564 1 84746565 [T/C] JHU_1.84746734 1 84746735 [G/C] JHU_1.84746756 1 84746757 [T/G] JHU_1.84746827 1 84746828 [T/C] JHU_1.84747145 1 84747146 [A/G] JHU_1.84747780 1 84747781 [T/C] rs316635 1 84751614 [A/G] rs58205457 1 84752251 [T/C] rs316641 1 84754264 [T/C] rs1503638 1 84757541 [A/G] rs11163939 1 84759423 [T/C] rs6663916 1 84760026 [T/C] rs74747289 1 84760096 [A/C] rs813056 1 84760218 [A/C] rs784833 1 84761174 [A/G] exm70869 1 84764249 [A/G] NM_001010971 SAMD13 EXON Synonymous_G3G rs72714713 1 84764993 [T/C] NM_001010971 SAMD13 Silent JHU_1.84765341 1 84765342 [A/G] NM_001010971 SAMD13 Silent rs77377090 1 84765716 [C/G] NM_001010971 SAMD13 Silent rs72942035 1 84766320 [T/C] NM_001010971 SAMD13 Silent rs316625 1 84768861 [T/C] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent exm70876 1 84768912 [T/C] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 EXON Missense_L13F,Silent,Silent JHU_1.84769966 1 84769967 [A/G] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent JHU_1.84771498 1 84771499 [T/C] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent rs1246546 1 84778870 [T/C] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent rs315553 1 84792973 [T/G] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent rs74095544 1 84793931 [T/C] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent rs315552 1 84795283 [T/G] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent rs80306569 1 84805883 [T/C] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent 1:84810570-GT 1 84810570 [T/G] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent 1:84810815-AG 1 84810815 [A/G] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent rs17131611 1 84811217 [A/G] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent rs146900140 1 84812638 [A/G] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent indel.4450 1 84815430 [I/D] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 EXON rs814152 1 84816123 [T/C] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 EXON Silent,Silent,Silent rs17131624 1 84822342 [A/G] JHU_1.84823760 1 84823761 [A/C] JHU_1.84824513 1 84824514 [T/G] JHU_1.84826623 1 84826624 [G/C] JHU_1.84827440 1 84827441 [T/G] rs79387081 1 84830367 [G/C] JHU_1.84831108 1 84831109 [G/C] NR_003927 UOX EXON Silent rs7521357 1 84831134 [T/A] NR_003927 UOX EXON Silent JHU_1.84839249 1 84839250 [A/G] NR_003927 UOX Silent rs642774 1 84843465 [T/C] NR_003927 UOX Silent JHU_1.84843819 1 84843820 [T/G] NR_003927 UOX Silent rs989364 1 84844723 [A/G] NR_003927 UOX Silent rs315515 1 84845368 [T/C] NR_003927 UOX Silent rs34798531 1 84846593 [A/G] NR_003927 UOX Silent JHU_1.84847673 1 84847674 [T/C] NR_003927 UOX Silent rs7542684 1 84849237 [A/G] NR_003927 UOX Silent rs589152 1 84852805 [T/G] JHU_1.84853277 1 84853278 [A/C] rs576888 1 84853611 [A/C] rs151141568 1 84853819 [T/C] JHU_1.84855384 1 84855385 [A/G] rs648484 1 84855385 [A/G] JHU_1.84856109 1 84856110 [A/G] rs500565 1 84861403 [T/C] JHU_1.84861731 1 84861732 [A/G] rs3738573 1 84864256 [G/C] NM_021233 DNASE2B EXON Missense_Q3H exm70895 1 84864256 [G/C] NM_021233 DNASE2B EXON Missense_Q3H 1:84864371-TC 1 84864371 [T/C] NM_021233 DNASE2B EXON Missense_W42R var_1_84864377 1 84864377 [A/G] NM_021233 DNASE2B Silent rs12144715 1 84865230 [A/T] NM_021233 DNASE2B Silent rs1246386 1 84867148 [T/G] NM_021233 DNASE2B Silent 1:84867610-GA 1 84867610 [A/G] NM_021233 DNASE2B EXON Missense_R51K indel.4452 1 84867621 [I/D] NM_021233 DNASE2B EXON 1:84867706-CA 1 84867706 [A/C] NM_021233 DNASE2B EXON Missense_T83N exm70908 1 84867741 [T/C] NM_021233 DNASE2B EXON Missense_Y95H exm70909 1 84867754 [C/G] NM_021233 DNASE2B EXON Missense_A99G rs12074778 1 84867932 [T/C] NM_021233 DNASE2B Silent rs617178 1 84868450 [A/G] NM_021233 DNASE2B Silent rs78639733 1 84868661 [A/G] NM_021233 DNASE2B Silent rs111902908 1 84868780 [T/C] NM_021233 DNASE2B Silent rs604708 1 84868961 [T/C] NM_021233 DNASE2B Silent JHU_1.84869984 1 84869985 [T/C] NM_021233 DNASE2B Silent rs507772 1 84871923 [A/G] NM_021233 DNASE2B Silent 1:84874127-AC 1 84874127 [A/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_N104T,Silent indel.4454 1 84874130 [D/I] NM_021233,NM_058248 DNASE2B,DNASE2B EXON exm70911 1 84874162 [T/A] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_K116X,Silent variant.4456 1 84876533 [A/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_W133X,Silent exm70918 1 84876560 [T/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_I142S,Silent variant.4457 1 84876625 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_R164X,Silent exm70925 1 84876680 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_I182T,Silent JHU_1.84877109 1 84877110 [T/G] NM_021233,NM_058248 DNASE2B,DNASE2B Silent,Silent chr1_84878115 1 84878115 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_Q211X,Nonsense_Q3X rs7511984 1 84878228 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Synonymous_D248D,Synonymous_D40D 1:84880227-GT 1 84880227 [T/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_W254C,Missense_W46C exm70930 1 84880273 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_R270X,Nonsense_R62X 1:84880274-GA 1 84880274 [A/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_R270Q,Missense_R62Q chr1_84880325 1 84880325 [A/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_N287S,Missense_N79S 1:84880418-GA 1 84880418 [A/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_R318H,Missense_R110H exm70936 1 84880427 [A/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_C321Y,Missense_C113Y JHU_1.84880905 1 84880906 [T/C] JHU_1.84881199 1 84881200 [A/G] rs139722800 1 84883013 [A/G] 1:84885427-C-T 1 84885427 [T/C] rs6576703 1 84888887 [A/G] rs76304108 1 84888896 [T/G] rs12123829 1 84891250 [A/G] rs7512262 1 84896062 [A/G] rs12086666 1 84896939 [T/C] rs959363 1 84898321 [A/C] JHU_1.84899450 1 84899451 [A/G] rs117040383 1 84915249 [T/A] rs6677436 1 84915300 [T/C] JHU_1.84917693 1 84917694 [A/C] rs2066197 1 84917707 [A/G] JHU_1.84919808 1 84919809 [A/T] rs4907072 1 84919809 [A/T] rs1395415 1 84920939 [T/C] JHU_1.84921448 1 84921449 [A/G] rs12729133 1 84922553 [T/C] JHU_1.84925020 1 84925021 [T/C] rs75618116 1 84925938 [A/G] JHU_1.84928081 1 84928082 [T/A] rs115101854 1 84928679 [A/G] rs7551329 1 84931248 [T/C] rs11163968 1 84931986 [A/G] rs78509602 1 84932021 [T/C] rs140615484 1 84932343 [T/G] rs80253159 1 84932682 [T/C] rs17109966 1 84933928 [T/C] rs1506704 1 84936371 [T/C] 1:84937125-C-G 1 84937125 [C/G] rs79230669 1 84943656 [T/C] exm70941 1 84944975 [T/C] NM_025065 RPF1 EXON Missense_A4V exm70942 1 84944978 [A/G] NM_025065 RPF1 EXON Missense_G5E rs2292191 1 84944989 [A/G] NM_025065 RPF1 EXON Missense_S9G 1:84945023-CT 1 84945023 [T/C] NM_025065 RPF1 EXON Missense_A20V exm70950 1 84945034 [A/G] NM_025065 RPF1 EXON Missense_E24K 1:84945068-CA 1 84945068 [A/C] NM_025065 RPF1 EXON Missense_A35E exm70953 1 84945097 [C/G] NM_025065 RPF1 EXON Missense_A45P exm70958 1 84945179 [A/G] NM_025065 RPF1 EXON Missense_Q72R rs17374048 1 84945339 [T/C] NM_025065 RPF1 Silent rs12743529 1 84945434 [T/C] NM_025065 RPF1 Silent 1:84946669-AAAAG-A 1 84946669 [D/I] NM_025065 RPF1 EXON rs4907076 1 84947055 [A/G] NM_025065 RPF1 Silent JHU_1.84948416 1 84948417 [T/A] NM_025065 RPF1 Silent exm70961 1 84948653 [A/C] NM_025065 RPF1 EXON Missense_T114N 1:84948670-GA 1 84948670 [A/G] NM_025065 RPF1 EXON Missense_D120N newrs143563141 1 84948676 [T/G] NM_025065 RPF1 EXON Nonsense_E122X indel.4462 1 84948694 [I/D] NM_025065 RPF1 rs77576145 1 84949992 [A/G] NM_025065 RPF1 Silent JHU_1.84951471 1 84951472 [A/C] NM_025065 RPF1 Silent rs11163981 1 84953415 [A/G] NM_025065 RPF1 Silent rs11163983 1 84955233 [T/C] NM_025065 RPF1 Silent 1:84956074-GA 1 84956074 [A/G] NM_025065 RPF1 EXON Missense_A179T exm70969 1 84956143 [T/C] NM_025065 RPF1 EXON Missense_R202C exm70970 1 84956144 [A/G] NM_025065 RPF1 EXON Missense_R202H rs7524576 1 84959734 [A/G] NM_025065 RPF1 Silent rs75210853 1 84959995 [A/G] NM_025065 RPF1 Silent 1:84960680-T-C 1 84960680 [T/C] NM_025065 RPF1 Silent rs7528067 1 84961108 [A/G] NM_025065 RPF1 EXON Missense_M223I exm70975 1 84961108 [A/G] NM_025065 RPF1 EXON Missense_M223I exm70976 1 84961119 [A/G] NM_025065 RPF1 EXON Missense_R227H exm70977 1 84961140 [T/C] NM_025065 RPF1 Silent exm70981 1 84961668 [T/C] NM_025065 RPF1 EXON Missense_P268L 1:84962021-TG 1 84962021 [T/G] NM_025065 RPF1 EXON Missense_S326A exm70988 1 84962049 [A/G] NM_025065 RPF1 EXON Missense_H335R exm70991 1 84963142 [T/C] NM_025065 RPF1 EXON Missense_F347L rs113684322 1 84964616 [T/C] NM_005274 GNG5 Silent rs17110474 1 84966766 [A/C] NM_005274 GNG5 Silent exm1914057 1 84967545 [T/C] NM_005274 GNG5 EXON Missense_V64I JHU_1.84969568 1 84969569 [T/C] NM_005274 GNG5 Silent JHU_1.84969595 1 84969596 [A/G] NM_005274 GNG5 Silent 1:84970947-C-T 1 84970947 [T/C] NM_005274 GNG5 Silent JHU_1.84972816 1 84972817 [T/C] NM_001310156 SPATA1 Silent rs66494245 1 84974210 [A/G] NM_001310156 SPATA1 Silent JHU_1.84974209 1 84974210 [A/G] NM_001310156 SPATA1 Silent rs150297155 1 84979460 [T/G] NM_001310156 SPATA1 Silent 1:84982029-AG 1 84982029 [A/G] NM_001310156 SPATA1 EXON Missense_Q18R 1:84982065-CT 1 84982065 [T/C] NM_001310156 SPATA1 EXON Missense_P30L 1:84982071-CA 1 84982071 [A/C] NM_001310156 SPATA1 EXON Nonsense_S32X variant.4466 1 84982079 [A/G] NM_001310156 SPATA1 Silent 1:84986270-GT 1 84986270 [T/G] NM_001310156 SPATA1 EXON Missense_L35F 1:84986284-GT-G 1 84986284 [I/D] NM_001310156 SPATA1 EXON 1:84986361-GT 1 84986361 [T/G] NM_001310156 SPATA1 EXON Missense_A66S 1:84991618-AG 1 84991618 [A/G] NM_001310156 SPATA1 EXON Missense_T158A 1:84991808-AG 1 84991808 [A/G] NM_001310156 SPATA1 Silent JHU_1.84994526 1 84994527 [T/C] NM_001310156 SPATA1 Silent 1:84998550-GA-G 1 84998550 [I/D] NM_001310156 SPATA1 EXON 1:84999391-GT 1 84999391 [T/G] NM_001310156 SPATA1 Silent 1:84999393-CA 1 84999393 [A/C] NM_001310156 SPATA1 EXON Missense_Q243K 1:84999411-GT 1 84999411 [T/G] NM_001310156 SPATA1 EXON Nonsense_E249X JHU_1.85002415 1 85002416 [T/C] NM_001310156 SPATA1 Silent rs6576713 1 85003568 [T/C] NM_001310156 SPATA1 Silent JHU_1.85005075 1 85005076 [A/C] NM_001310156 SPATA1 Silent rs79122722 1 85009665 [T/A] NM_001310156 SPATA1 Silent 1:85009894-AG 1 85009894 [A/G] NM_001310156 SPATA1 EXON Missense_K265E 1:85009934-GA 1 85009934 [A/G] NM_001310156 SPATA1 EXON Missense_C278Y rs146555915 1 85012316 [T/C] NM_001310156 SPATA1 Silent 1:85014517-CA 1 85014517 [A/C] NM_001310156 SPATA1 EXON Missense_A354E 1:85014547-GA 1 85014547 [A/G] NM_001310156 SPATA1 EXON Missense_R364Q rs17111283 1 85014989 [A/G] NM_001310156 SPATA1 Silent JHU_1.85015449 1 85015450 [A/G] NM_001310156 SPATA1 Silent rs4906998 1 85015450 [A/G] NM_001310156 SPATA1 Silent rs1043493 1 85020649 [T/C] NM_001310156,NM_004388 SPATA1,CTBS EXON Silent,Silent exm71046 1 85020683 [C/G] NM_001310156,NM_004388 SPATA1,CTBS EXON Silent,Missense_X386S exm71047 1 85020695 [A/G] NM_001310156,NM_004388 SPATA1,CTBS EXON Silent,Missense_L382P indel.4469 1 85020714 [D/I] NM_001310156,NM_004388 SPATA1,CTBS EXON variant.4470 1 85020735 [A/G] NM_001310156,NM_004388 SPATA1,CTBS EXON Silent,Nonsense_Q369X 1:85020795-GA 1 85020795 [A/G] NM_001310156,NM_004388 SPATA1,CTBS EXON Silent,Missense_R349W exm71051 1 85020803 [T/C] NM_001310156,NM_004388 SPATA1,CTBS EXON Silent,Missense_Y346C JHU_1.85022451 1 85022452 [T/C] NM_004388 CTBS Silent JHU_1.85023554 1 85023555 [A/G] NM_004388 CTBS Silent exm71053 1 85028969 [A/C] NM_004388 CTBS EXON Missense_D310Y exm71054 1 85029010 [T/G] NM_004388 CTBS EXON Missense_K296T exm71059 1 85029067 [T/C] NM_004388 CTBS EXON Missense_R277Q exm71060 1 85029068 [A/G] NM_004388 CTBS EXON Missense_R277W exm71061 1 85029077 [T/C] NM_004388 CTBS EXON Missense_V274I exm71062 1 85029085 [A/G] NM_004388 CTBS EXON Missense_I271T exm71063 1 85029100 [T/C] NM_004388 CTBS EXON Missense_D266G exm71066 1 85029489 [A/T] NM_004388 CTBS EXON Missense_I242F 1:85031577-AG 1 85031577 [A/G] NM_004388 CTBS EXON Missense_I215T rs2994953 1 85031630 [A/G] NM_004388 CTBS EXON Synonymous_I197I exm71079 1 85035634 [T/G] NM_004388 CTBS EXON Missense_R169S exm71083 1 85035754 [A/C] NM_004388 CTBS EXON Missense_L129V exm71085 1 85035772 [T/G] NM_004388 CTBS EXON Missense_I123L exm2233874 1 85035778 [A/C] NM_004388 CTBS EXON Missense_S121A indel.4471 1 85036314 [I/D] NM_004388 CTBS EXON exm2233875 1 85036315 [A/G] NM_004388 CTBS EXON Missense_S89L 1:85036403-AC-A 1 85036403 [D/I] NM_004388 CTBS EXON variant.4472 1 85036404 [T/C] NM_004388 CTBS Silent rs57295979 1 85036602 [A/G] NM_004388 CTBS Silent rs6681870 1 85038958 [A/G] NM_004388 CTBS Silent rs75736189 1 85039400 [A/T] NM_004388 CTBS Silent rs3895004 1 85041144 [A/G] rs79451981 1 85042198 [T/C] rs7515928 1 85044958 [T/C] rs12084716 1 85047379 [A/C] rs7546947 1 85047535 [T/G] rs72950382 1 85048347 [T/G] rs2945152 1 85048641 [T/C] rs17366686 1 85054474 [A/C] rs115347727 1 85061005 [A/G] rs2945145 1 85062615 [A/C] rs115548534 1 85063336 [T/G] rs2007454 1 85079410 [A/C] NR_125761 LINC01461 Silent JHU_1.85082162 1 85082163 [A/G] NR_125761 LINC01461 Silent rs2994435 1 85082985 [T/C] NR_125761 LINC01461 Silent JHU_1.85088627 1 85088628 [A/G] JHU_1.85089259 1 85089260 [A/C] rs11164023 1 85089402 [T/C] rs79829539 1 85090349 [T/C] rs2945133 1 85091557 [T/C] JHU_1.85092743 1 85092744 [A/C] JHU_1.85094307 1 85094308 [T/A] NR_027379 LINC01555 EXON Silent rs114147041 1 85095197 [G/C] NR_027379 LINC01555 EXON Silent rs74095489 1 85095925 [A/G] NR_027379 LINC01555 EXON Silent rs148919363 1 85096195 [A/G] NR_027379 LINC01555 EXON Silent 1:85096298-CA 1 85096298 [A/C] NR_027379 LINC01555 EXON Silent 1:85096383-AC 1 85096383 [A/C] NR_027379 LINC01555 EXON Silent 1:85096412-GA 1 85096412 [A/G] NR_027379 LINC01555 EXON Silent 1:85097311-GA 1 85097311 [A/G] NR_027379 LINC01555 EXON Silent 1:85097339-CT 1 85097339 [T/C] NR_027379 LINC01555 EXON Silent rs76173498 1 85100147 [T/C] NR_027379 LINC01555 Silent rs11808525 1 85102981 [A/C] rs11164030 1 85103726 [A/G] rs117114639 1 85104290 [A/G] rs1927 1 85112180 [A/G] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Silent,Silent,Silent,Silent,Silent 1:85113204-GA 1 85113204 [A/G] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_A586V,Missense_A559V,Missense_A559V,Missense_A586V,Missense_A586V exm71114 1 85113229 [A/G] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_C578R,Missense_C551R,Missense_C551R,Missense_C578R,Missense_C578R rs2994939 1 85114537 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent exm71121 1 85116142 [G/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_G525R,Missense_G498R,Missense_G498R,Missense_G525R,Missense_G525R exm2233876 1 85116153 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_S521N,Missense_S494N,Missense_S494N,Missense_S521N,Missense_S521N rs10493751 1 85121097 [A/G] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent 1:85121255-AG 1 85121255 [A/G] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent 1:85121528-CA 1 85121528 [A/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_R459L,Missense_R432L,Missense_R432L,Missense_R459L,Missense_R459L 1:85121613-GA 1 85121613 [A/G] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_R431C,Missense_R404C,Missense_R404C,Missense_R431C,Missense_R431C 1:85121682-AGCT-A 1 85121682 [D/I] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON var_1_85121690 1 85121690 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent rs12562661 1 85125085 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent rs2911562 1 85126143 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent chr1_85130112 1 85130112 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_D221N,Missense_D194N,Missense_D194N,Missense_D221N,Missense_D221N rs117423260 1 85131331 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent 1:85131906-TC-T 1 85131906 [D/I] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON 1:85135384-TC 1 85135384 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_S136G,Missense_S109G,Missense_S109G,Missense_S136G,Missense_S136G 1:85135407-CT 1 85135407 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_G128E,Missense_G101E,Missense_G101E,Missense_G128E,Missense_G128E 1:85135567-TC 1 85135567 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_T75A,Missense_T48A,Missense_T48A,Missense_T75A,Missense_T75A 1:85136332-AC 1 85136332 [A/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_D70E,Missense_D43E,Missense_D43E,Missense_D70E,Missense_D70E indel.4477 1 85136391 [I/D] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON 1:85136396-AG 1 85136396 [A/G] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_V49A,Missense_V22A,Missense_V22A,Missense_V49A,Missense_V49A 1:85136859-CT 1 85136859 [T/C] NM_001166293,NM_001166294,NM_001166295,NM_001166417,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent 1:85136860-CA 1 85136860 [A/C] NM_001166293,NM_00