Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-125590148-T-C p.Pro1428Pro synonymous ANKRD50 3 82436 3.63919E-5 41218 0 3.39755E-5
4-125590151-T-C p.Thr1427Thr synonymous ANKRD50 1 82454 1.2128E-5 41227 0 8.5076E-6
4-125590176-G-C p.Pro1419Arg missense ANKRD50 1 82586 1.21086E-5 41293 0 3.18776E-5
4-125590178-G-C p.Asp1418Glu missense ANKRD50 1 82600 1.21065E-5 41300 0 NA
4-125590188-T-G p.Glu1415Ala missense ANKRD50 1 82652 1.20989E-5 41326 0 NA
4-125590242-T-A p.Tyr1397Phe missense ANKRD50 3 82852 3.62091E-5 41426 0 3.18492E-5
4-125590254-A-G p.Val1393Ala missense ANKRD50 1 82936 1.20575E-5 41468 0 NA
4-125590284-C-A p.Arg1383Leu missense ANKRD50 2 83010 2.40935E-5 41505 0 4.12215E-5
4-125590289-G-T p.Val1381Val synonymous ANKRD50 2 83032 2.40871E-5 41516 0 9.55779E-5
4-125590290-A-T p.Val1381Asp missense ANKRD50 1 83036 1.2043E-5 41518 0 NA
4-125590311-A-G p.Val1374Ala missense ANKRD50 2 83088 2.40709E-5 41544 0 5.03525E-4
4-125590331-A-G p.Tyr1367Tyr synonymous ANKRD50 1 83056 1.20401E-5 41528 0 6.3743E-5
4-125590339-G-T p.Pro1365Thr missense ANKRD50 1 83074 1.20375E-5 41537 0 NA
4-125590359-CTCT-C p.Lys1357del disruptive_inframe_deletion ANKRD50 3 83048 3.61237E-5 41524 0 3.18756E-5
4-125590367-C-T p.Gln1355Gln synonymous ANKRD50 32 83024 3.85431E-4 41512 1 0.00151057
4-125590382-T-C p.Gln1350Gln synonymous ANKRD50 2 82968 2.41057E-5 41484 0 6.37024E-5
4-125590386-T-C p.His1349Arg missense ANKRD50 2 82960 2.4108E-5 41480 0 NA
4-125590396-A-G p.Phe1346Leu missense ANKRD50 1 82960 1.2054E-5 41480 0 NA
4-125590403-T-C p.Gln1343Gln synonymous ANKRD50 1 82940 1.20569E-5 41470 0 3.9841E-6
4-125590410-C-A p.Arg1341Leu missense ANKRD50 1 82928 1.20587E-5 41464 0 NA
4-125590424-CT-GG p.Gln1336Pro missense ANKRD50 2 82904 2.41243E-5 41452 0 NA
4-125590435-G-T p.Pro1333Thr missense ANKRD50 1 82906 1.20619E-5 41453 0 NA
4-125590442-A-G p.Ile1330Ile synonymous ANKRD50 1 82908 1.20616E-5 41454 0 NA
4-125590478-T-C p.Pro1318Pro synonymous ANKRD50 12584 82724 0.15212 41362 1050 0.188054
4-125590481-T-C p.Ala1317Ala synonymous ANKRD50 1 82888 1.20645E-5 41444 0 NA
4-125590482-G-A p.Ala1317Val missense ANKRD50 1 82892 1.20639E-5 41446 0 3.98603E-6
4-125590482-G-C p.Ala1317Gly missense ANKRD50 1 82892 1.20639E-5 41446 0 0.00100705
4-125590489-T-C p.Thr1315Ala missense ANKRD50 24 82864 2.89631E-4 41432 0 0.00375
4-125590490-C-G p.Gly1314Gly synonymous ANKRD50 1 82868 1.20674E-5 41434 0 NA
4-125590492-C-T p.Gly1314Arg missense ANKRD50 153 82864 0.0018464 41432 0 0.0035043
4-125590493-G-A p.Ser1313Ser synonymous ANKRD50 1 82864 1.2068E-5 41432 0 2.31278E-4
4-125590500-G-C p.Ala1311Gly missense ANKRD50 1 82836 1.2072E-5 41418 0 7.97633E-6
4-125590503-A-T p.Ile1310Lys missense ANKRD50 5 82844 6.03544E-5 41422 0 3.29908E-5
4-125590518-T-C p.Asp1305Gly missense ANKRD50 5 82758 6.04171E-5 41379 0 5.03525E-4
4-125590520-AAACT-A p.Gln1303fs frameshift ANKRD50 1 82766 1.20823E-5 41383 0 NA
4-125590528-T-C p.Thr1302Ala missense ANKRD50 2 82742 2.41715E-5 41371 0 8.25082E-6
4-125590529-C-A p.Met1301Ile missense ANKRD50 1 82736 1.20866E-5 41368 0 7.97932E-6
4-125590531-T-C p.Met1301Val missense ANKRD50 2 82736 2.41733E-5 41368 0 NA
4-125590538-T-C p.Glu1298Glu synonymous ANKRD50 2 82666 2.41937E-5 41333 0 3.18451E-5
4-125590550-T-C p.Pro1294Pro synonymous ANKRD50 1 82542 1.2115E-5 41271 0 1.19902E-5
4-125590565-A-T p.Ser1289Arg missense ANKRD50 1 82324 1.21471E-5 41162 0 NA
4-125590567-T-G p.Ser1289Arg missense ANKRD50 1 82276 1.21542E-5 41138 0 8.26214E-6
4-125590574-C-T p.Ala1286Ala synonymous ANKRD50 11 82146 1.33908E-4 41073 0 5.03525E-4
4-125590575-G-A p.Ala1286Val missense ANKRD50 1 82100 1.21803E-5 41050 0 3.30595E-5
4-125590580-T-C p.Lys1284Lys synonymous ANKRD50 1 82080 1.21832E-5 41040 0 NA
4-125590593-C-A p.Gly1280Val missense ANKRD50 1 81806 1.2224E-5 40903 0 4.13414E-5
4-125590624-C-A p.Gly1270Trp missense ANKRD50 1 81470 1.22745E-5 40735 0 3.30792E-5
4-125590650-C-T p.Ser1261Asn missense ANKRD50 1 81600 1.22549E-5 40800 0 NA
4-125590650-C-G p.Ser1261Thr missense ANKRD50 2 81600 2.45098E-5 40800 0 1.20439E-5
4-125590661-T-C p.Gln1257Gln synonymous ANKRD50 1 81688 1.22417E-5 40844 0 8.25437E-6
4-125590662-T-C p.Gln1257Arg missense ANKRD50 1 81700 1.22399E-5 40850 0 4.81777E-5
4-125590689-G-A p.Ser1248Leu missense ANKRD50 1 82046 1.21883E-5 41023 0 NA
4-125590713-T-C p.Gln1240Arg missense ANKRD50 2 82424 2.42648E-5 41212 0 6.25E-4
4-125590724-A-C p.Ser1236Ser synonymous ANKRD50 3 82492 3.63672E-5 41246 0 3.1841E-5
4-125590725-G-A p.Ser1236Phe missense ANKRD50 1 82506 1.21203E-5 41253 0 NA
4-125590732-A-C p.Ser1234Ala missense ANKRD50 5 82558 6.05635E-5 41279 0 2.55434E-4
4-125590738-T-C p.Ile1232Val missense ANKRD50 14 82616 1.69459E-4 41308 0 0.00251762
4-125590746-C-T p.Arg1229Gln missense ANKRD50 4 82654 4.83945E-5 41327 0 8.23995E-6
4-125590750-T-C p.Ser1228Gly missense ANKRD50 1 82696 1.20925E-5 41348 0 1.6478E-5
4-125590756-T-C p.Ser1226Gly missense ANKRD50 2 82712 2.41803E-5 41356 0 NA
4-125590759-G-A p.Arg1225Cys missense ANKRD50 1 82728 1.20878E-5 41364 0 1.59547E-5
4-125590776-T-C p.Gln1219Arg missense ANKRD50 2 82784 2.41593E-5 41392 0 NA
4-125590785-T-C p.Glu1216Gly missense ANKRD50 1 82802 1.2077E-5 41401 0 NA
4-125590787-T-A p.Thr1215Thr synonymous ANKRD50 1 82802 1.2077E-5 41401 0 3.19438E-5
4-125590832-C-T p.Thr1200Thr synonymous ANKRD50 1 82778 1.20805E-5 41389 0 4.40779E-5
4-125590844-T-A p.Ser1196Ser synonymous ANKRD50 26 82796 3.14025E-4 41398 1 0.00108287
4-125590862-T-C p.Ser1190Ser synonymous ANKRD50 2 82808 2.41523E-5 41404 0 8.25042E-6
4-125590907-C-T p.Gln1175Gln synonymous ANKRD50 1 82798 1.20776E-5 41399 0 4.00186E-6
4-125590914-T-C p.Asp1173Gly missense ANKRD50 1 82764 1.20825E-5 41382 0 NA
4-125590917-A-C p.Val1172Gly missense ANKRD50 1 82780 1.20802E-5 41390 0 2.00155E-5
4-125590926-T-C p.Asp1169Gly missense ANKRD50 1 82814 1.20753E-5 41407 0 NA
4-125590931-A-C p.Ser1167Ser synonymous ANKRD50 5 82814 6.03763E-5 41407 0 1.27413E-4
4-125590939-AAGG-A p.Pro1164del conservative_inframe_deletion ANKRD50 2 82832 2.41453E-5 41416 0 NA
4-125590940-A-T p.Pro1164Pro synonymous ANKRD50 3 82832 3.62179E-5 41416 0 NA
4-125590957-G-A p.His1159Tyr missense ANKRD50 1 82896 1.20633E-5 41448 0 NA
4-125590959-G-A p.Thr1158Ile missense ANKRD50 1 82892 1.20639E-5 41446 0 1.6494E-5
4-125590971-G-A p.Pro1154Leu missense ANKRD50 1 82974 1.2052E-5 41487 0 NA
4-125590980-C-T p.Arg1151His missense ANKRD50 8 82996 9.63902E-5 41498 0 5.03525E-4
4-125590985-C-T p.Ser1149Ser synonymous ANKRD50 26 83012 3.13208E-4 41506 0 0.00137012
4-125590992-T-C p.Gln1147Arg missense ANKRD50 8 83042 9.63368E-5 41521 0 8.00339E-6
4-125590996-T-A p.Met1146Leu missense ANKRD50 14 83056 1.68561E-4 41528 0 5.03525E-4
4-125590999-C-A p.Asp1145Tyr missense ANKRD50 1 83066 1.20386E-5 41533 0 NA
4-125591000-C-T p.Gly1144Gly synonymous ANKRD50 1 83060 1.20395E-5 41530 0 4.94552E-5
4-125591014-T-C p.Ser1140Gly missense ANKRD50 1 83088 1.20354E-5 41544 0 3.99792E-6
4-125591034-A-T p.Ile1133Asn missense ANKRD50 1 83114 1.20317E-5 41557 0 NA
4-125591035-T-C p.Ile1133Val missense ANKRD50 1 83116 1.20314E-5 41558 0 3.99377E-6
4-125591040-A-G p.Leu1131Ser missense ANKRD50 1 83116 1.20314E-5 41558 0 2.47353E-5
4-125591048-C-T p.Val1128Val synonymous ANKRD50 6 83106 7.2197E-5 41553 0 5.03525E-4
4-125591065-A-C p.Ser1123Ala missense ANKRD50 2 83110 2.40645E-5 41555 0 NA
4-125591069-T-C p.Leu1121Leu synonymous ANKRD50 75 83112 9.02397E-4 41556 0 0.00207046
4-125591102-T-C p.Pro1110Pro synonymous ANKRD50 2 83116 2.40628E-5 41558 0 7.99718E-6
4-125591122-T-C p.Ser1104Gly missense ANKRD50 2 83086 2.40714E-5 41543 0 NA
4-125591128-C-T p.Ala1102Thr missense ANKRD50 1 83050 1.20409E-5 41525 0 2.47541E-5
4-125591135-T-G p.Lys1099Asn missense ANKRD50 1 83044 1.20418E-5 41522 0 NA
4-125591146-AT-A p.Lys1095fs frameshift ANKRD50 1 83016 1.20459E-5 41508 0 NA
4-125591163-T-A p.His1090Leu missense ANKRD50 1 82968 1.20528E-5 41484 0 NA
4-125591163-T-C p.His1090Arg missense ANKRD50 1 82968 1.20528E-5 41484 0 NA
4-125591184-C-A p.Arg1083Leu missense ANKRD50 2 82898 2.4126E-5 41449 0 NA
4-125591185-G-A p.Arg1083Cys missense ANKRD50 2 82890 2.41284E-5 41445 0 1.64973E-5
4-125591188-T-C p.Met1082Val missense ANKRD50 1 82894 1.20636E-5 41447 0 1.20744E-5
4-125591194-T-C p.Thr1080Ala missense ANKRD50 1 82858 1.20688E-5 41429 0 4.03682E-6
4-125591201-A-G p.Phe1077Phe synonymous ANKRD50 1 82888 1.20645E-5 41444 0 NA
4-125591202-A-G p.Phe1077Ser missense ANKRD50 1 82890 1.20642E-5 41445 0 3.18512E-5
4-125591211-G-A p.Ala1074Val missense ANKRD50 1 82880 1.20656E-5 41440 0 4.00509E-6
4-125591214-T-C p.His1073Arg missense ANKRD50 1 82888 1.20645E-5 41444 0 3.18431E-5
4-125591221-G-C p.Pro1071Ala missense ANKRD50 1 82872 1.20668E-5 41436 0 NA
4-125591240-T-A p.Leu1064Phe missense ANKRD50 1 82900 1.20627E-5 41450 0 8.24633E-6
4-125591274-G-A p.Ala1053Val missense ANKRD50 1 82858 1.20688E-5 41429 0 8.24701E-6
4-125591282-A-C p.Cys1050Trp missense ANKRD50 1 82850 1.207E-5 41425 0 NA
4-125591284-A-G p.Cys1050Arg missense ANKRD50 1 82856 1.20691E-5 41428 0 NA
4-125591285-G-C p.Leu1049Leu synonymous ANKRD50 11 82848 1.32773E-4 41424 0 4.94894E-5
4-125591288-T-C p.Ala1048Ala synonymous ANKRD50 1 82826 1.20735E-5 41413 0 NA
4-125591298-C-A p.Gly1045Val missense ANKRD50 1 82802 1.2077E-5 41401 0 NA
4-125591309-T-C p.Thr1041Thr synonymous ANKRD50 2 82798 2.41552E-5 41399 0 1.64989E-5
4-125591315-G-A p.Asp1039Asp synonymous ANKRD50 1 82754 1.2084E-5 41377 0 NA
4-125591345-C-G p.Gln1029His missense ANKRD50 3 82514 3.63575E-5 41257 0 9.55597E-5
4-125591348-A-C p.Val1028Val synonymous ANKRD50 2 82486 2.42465E-5 41243 0 NA
4-125591384-C-T p.Leu1016Leu synonymous ANKRD50 2 82074 2.43683E-5 41037 0 3.99192E-6
4-125591389-C-G p.Ala1015Pro missense ANKRD50 1 82030 1.21907E-5 41015 0 NA
4-125591394-C-T p.Arg1013His missense ANKRD50 1 81966 1.22002E-5 40983 0 3.18431E-5
4-125591395-G-A p.Arg1013Cys missense ANKRD50 1 81904 1.22094E-5 40952 0 4.12637E-5
4-125591399-T-C p.Glu1011Glu synonymous ANKRD50 1 81924 1.22064E-5 40962 0 1.65049E-5
4-125591413-C-G p.Ala1007Pro missense ANKRD50 4 81768 4.89189E-5 40884 0 3.99023E-6
4-125591415-T-C p.Asn1006Ser missense ANKRD50 20 81806 2.44481E-4 40903 0 7.00548E-4
4-125591420-G-A p.Asp1004Asp synonymous ANKRD50 146 81720 0.00178659 40860 1 0.00264298
4-125591421-TC-AA p.Asp1004Phe missense ANKRD50 1 81690 1.22414E-5 40845 0 NA
4-125591423-A-T p.Ala1003Ala synonymous ANKRD50 4973 81626 0.0609242 40813 187 0.061325
4-125591423-A-G p.Ala1003Ala synonymous ANKRD50 2 81698 2.44804E-5 40849 0 3.63114E-4
4-125591447-C-A p.Val995Val synonymous ANKRD50 3 81664 3.67359E-5 40832 0 1.19601E-5
4-125591460-T-A p.His991Leu missense ANKRD50 1 81780 1.22279E-5 40890 0 NA
4-125591471-A-G p.Cys987Cys synonymous ANKRD50 2 81794 2.44517E-5 40897 0 1.99271E-5
4-125591472-C-G p.Cys987Ser missense ANKRD50 1 81796 1.22255E-5 40898 0 NA
4-125591474-A-G p.Ser986Ser synonymous ANKRD50 13 81818 1.58889E-4 40909 0 NA
4-125591500-C-G p.Glu978Gln missense ANKRD50 1 81980 1.21981E-5 40990 0 NA
4-125591504-A-T p.Asp976Glu missense ANKRD50 2 82000 2.43902E-5 41000 0 3.18492E-5
4-125591511-G-T p.Ala974Glu missense ANKRD50 2 82018 2.43849E-5 41009 0 NA
4-125591518-C-T p.Val972Ile missense ANKRD50 2 82036 2.43795E-5 41018 0 6.25E-4
4-125591519-G-A p.Asn971Asn synonymous ANKRD50 1 82054 1.21871E-5 41027 0 3.30164E-5
4-125591522-T-G p.Ala970Ala synonymous ANKRD50 1 82040 1.21892E-5 41020 0 3.98432E-6
4-125591524-C-T p.Ala970Thr missense ANKRD50 2 82036 2.43795E-5 41018 0 3.30175E-5
4-125591544-T-A p.Glu963Val missense ANKRD50 1 82140 1.21743E-5 41070 0 NA
4-125591546-G-A p.Ala962Ala synonymous ANKRD50 3 82142 3.65221E-5 41071 0 3.18552E-5
4-125591548-C-T p.Ala962Thr missense ANKRD50 1 82126 1.21764E-5 41063 0 NA
4-125591552-T-C p.Thr960Thr synonymous ANKRD50 22 82200 2.6764E-4 41100 0 5.09619E-4
4-125591553-G-C p.Thr960Arg missense ANKRD50 1 82222 1.21622E-5 41111 0 3.98492E-6
4-125591562-T-C p.Asn957Ser missense ANKRD50 1 82320 1.21477E-5 41160 0 NA
4-125591576-G-T p.Ile952Ile synonymous ANKRD50 1 82552 1.21136E-5 41276 0 1.65087E-5
4-125591592-C-T p.Arg947Gln missense ANKRD50 4 82734 4.83477E-5 41367 0 3.18634E-5
4-125591593-G-A p.Arg947Trp missense ANKRD50 1 82734 1.20869E-5 41367 0 NA
4-125591602-C-T p.Ala944Thr missense ANKRD50 2 82872 2.41336E-5 41436 0 NA
4-125591644-C-T p.Glu930Lys missense ANKRD50 1 83078 1.20369E-5 41539 0 NA
4-125591656-T-C p.Arg926Gly missense ANKRD50 3 83086 3.61072E-5 41543 0 5.03525E-4
4-125591662-C-G p.Gly924Arg missense ANKRD50 1 83096 1.20343E-5 41548 0 NA
4-125591666-T-C p.Leu922Leu synonymous ANKRD50 1 83116 1.20314E-5 41558 0 3.98953E-6
4-125591679-C-T p.Arg918Gln missense ANKRD50 1 83118 1.20311E-5 41559 0 8.24756E-6
4-125591680-G-A p.Arg918Trp missense ANKRD50 2 83118 2.40622E-5 41559 0 8.24769E-6
4-125591687-A-G p.Asn915Asn synonymous ANKRD50 18936 82964 0.228244 41482 2316 0.264464
4-125591696-A-G p.Asp912Asp synonymous ANKRD50 1 83142 1.20276E-5 41571 0 1.64902E-5
4-125591697-T-G p.Asp912Ala missense ANKRD50 2 83138 2.40564E-5 41569 0 8.24525E-6
4-125591717-G-A p.Asn905Asn synonymous ANKRD50 8 83100 9.62696E-5 41550 0 6.59544E-5
4-125591728-T-C p.Asn902Asp missense ANKRD50 2 83056 2.40801E-5 41528 0 6.37105E-5
4-125591740-T-A p.Ile898Leu missense ANKRD50 1 82996 1.20488E-5 41498 0 NA
4-125591750-A-G p.Asp894Asp synonymous ANKRD50 2 82918 2.41202E-5 41459 0 6.37064E-5
4-125591756-A-G p.His892His synonymous ANKRD50 1 82886 1.20648E-5 41443 0 3.99144E-6
4-125591760-C-T p.Gly891Asp missense ANKRD50 1 82836 1.2072E-5 41418 0 NA
4-125591762-C-T p.Glu890Glu synonymous ANKRD50 1 82826 1.20735E-5 41413 0 3.18593E-5
4-125591788-T-C p.Ile882Val missense ANKRD50 1 82602 1.21062E-5 41301 0 3.18492E-5
4-125591799-T-C p.Asn878Ser missense ANKRD50 2 82536 2.42319E-5 41268 0 1.6487E-5
4-125591821-C-T p.Ala871Thr missense ANKRD50 1 82432 1.21312E-5 41216 0 4.00122E-6
4-125591825-T-C p.Gln869Gln synonymous ANKRD50 1 82442 1.21297E-5 41221 0 3.18471E-5
4-125591832-A-G p.Ile867Thr missense ANKRD50 14 82422 1.69858E-4 41211 0 5.03525E-4
4-125591845-A-G p.Cys863Arg missense ANKRD50 1 82450 1.21286E-5 41225 0 4.00606E-6
4-125591856-T-C p.His859Arg missense ANKRD50 1 82434 1.21309E-5 41217 0 NA
4-125591875-T-C p.Met853Val missense ANKRD50 1 82374 1.21398E-5 41187 0 NA
4-125591882-A-G p.Pro850Pro synonymous ANKRD50 4 82356 4.85696E-5 41178 0 8.24498E-6
4-125591883-G-T p.Pro850His missense ANKRD50 1 82342 1.21445E-5 41171 0 NA
4-125591884-G-A p.Pro850Ser missense ANKRD50 1 82318 1.2148E-5 41159 0 1.99752E-5
4-125591896-C-T p.Ala846Thr missense ANKRD50 7 82256 8.51002E-5 41128 0 1.64902E-5
4-125591933-T-G p.Leu833Leu synonymous ANKRD50 15 82140 1.82615E-4 41070 0 4.78011E-4
4-125591937-G-A p.Thr832Ile missense ANKRD50 3 82140 3.6523E-5 41070 0 NA
4-125591940-C-T p.Arg831His missense ANKRD50 4 82122 4.8708E-5 41061 2 3.2981E-5
4-125591941-G-A p.Arg831Cys missense ANKRD50 4 82108 4.87163E-5 41054 0 5.03525E-4
4-125591948-C-T p.Glu828Glu synonymous ANKRD50 11 82142 1.33914E-4 41071 0 8.38196E-5
4-125591966-T-C p.Ser822Ser synonymous ANKRD50 1 82262 1.21563E-5 41131 0 NA
4-125591969-A-G p.Ala821Ala synonymous ANKRD50 2 82290 2.43043E-5 41145 0 NA
4-125591983-C-G p.Val817Leu missense ANKRD50 2 82474 2.42501E-5 41237 0 NA
4-125591985-G-A p.Thr816Ile missense ANKRD50 8 82486 9.69862E-5 41243 0 1.6484E-5
4-125591997-C-T p.Ser812Asn missense ANKRD50 1 82634 1.21016E-5 41317 0 1.59451E-5
4-125592016-C-G p.Ala806Pro missense ANKRD50 1 82842 1.20712E-5 41421 0 3.18634E-5
4-125592016-C-A p.Ala806Ser missense ANKRD50 1 82842 1.20712E-5 41421 0 3.98397E-6
4-125592021-C-T p.Gly804Asp missense ANKRD50 1 82868 1.20674E-5 41434 0 NA
4-125592046-C-T p.Val796Ile missense ANKRD50 1 83002 1.20479E-5 41501 0 NA
4-125592060-A-G p.Met791Thr missense ANKRD50 1 83040 1.20424E-5 41520 0 3.98184E-6
4-125592064-AC-TA p.AlaSer789AlaThr missense ANKRD50 2 83030 2.40877E-5 41515 0 NA
4-125592065-C-A p.Ala789Ala synonymous ANKRD50 18881 82872 0.227833 41436 2296 0.263188
4-125592065-C-T p.Ala789Ala synonymous ANKRD50 3 83036 3.61289E-5 41518 0 5.5756E-5
4-125592080-G-A p.Pro784Pro synonymous ANKRD50 1 83044 1.20418E-5 41522 0 NA
4-125592087-C-T p.Arg782His missense ANKRD50 1 83032 1.20435E-5 41516 0 1.59294E-5
4-125592092-A-G p.Asn780Asn synonymous ANKRD50 1 83020 1.20453E-5 41510 0 8.24389E-6
4-125592101-T-G p.Thr777Thr synonymous ANKRD50 2 83016 2.40917E-5 41508 0 NA
4-125592102-G-A p.Thr777Ile missense ANKRD50 2 83010 2.40935E-5 41505 0 3.98248E-6
4-125592104-G-A p.His776His synonymous ANKRD50 1 83006 1.20473E-5 41503 0 NA
4-125592107-A-C p.Asp775Glu missense ANKRD50 1 82990 1.20496E-5 41495 0 NA
4-125592117-G-A p.Ala772Val missense ANKRD50 1 82952 1.20552E-5 41476 0 NA
4-125592119-T-TC p.Ala772fs frameshift ANKRD50 1 82938 1.20572E-5 41469 0 NA
4-125592121-C-T p.Gly771Arg missense ANKRD50 4 82950 4.82218E-5 41475 0 2.47349E-5
4-125592124-C-G p.Gly770Arg missense ANKRD50 3 82972 3.61568E-5 41486 0 NA
4-125592141-A-G p.Val764Ala missense ANKRD50 6 82884 7.23903E-5 41442 0 2.22944E-4
4-125592143-C-G p.Val763Val synonymous ANKRD50 1 82888 1.20645E-5 41444 0 9.55657E-5
4-125592146-A-T p.Asp762Glu missense ANKRD50 1 82870 1.20671E-5 41435 0 NA
4-125592152-A-G p.His760His synonymous ANKRD50 1 82866 1.20677E-5 41433 0 NA
4-125592172-C-A p.Val754Leu missense ANKRD50 1 82698 1.20922E-5 41349 0 NA
4-125592181-G-A p.Pro751Ser missense ANKRD50 1 82626 1.21027E-5 41313 0 8.24892E-6
4-125592183-G-C p.Thr750Ser missense ANKRD50 1 82610 1.21051E-5 41305 0 NA
4-125592190-C-G p.Gly748Arg missense ANKRD50 1 82538 1.21156E-5 41269 0 NA
4-125592191-A-G p.Asp747Asp synonymous ANKRD50 1 82536 1.21159E-5 41268 0 3.98648E-6
4-125592208-C-A p.Asp742Tyr missense ANKRD50 1 82352 1.2143E-5 41176 0 NA
4-125592215-A-T p.Ala739Ala synonymous ANKRD50 9 82292 1.09367E-4 41146 0 1.59286E-4
4-125592222-C-T p.Arg737Gln missense ANKRD50 2 82214 2.43268E-5 41107 0 8.25042E-6
4-125592225-T-C p.Asp736Gly missense ANKRD50 3 82156 3.65159E-5 41078 0 8.77529E-5
4-125592229-T-C p.Ile735Val missense ANKRD50 1 82144 1.21737E-5 41072 0 NA
4-125592250-C-T p.Ala728Thr missense ANKRD50 2 81974 2.4398E-5 40987 0 6.37105E-5
4-125592250-C-A p.Ala728Ser missense ANKRD50 1 81974 1.2199E-5 40987 0 3.99138E-6
4-125592267-G-A p.Pro722Leu missense ANKRD50 1 81968 1.21999E-5 40984 0 3.99243E-6
4-125592282-G-C p.Ala717Gly missense ANKRD50 1 81876 1.22136E-5 40938 0 3.18512E-5
4-125592290-G-A p.Leu714Leu synonymous ANKRD50 2 81874 2.44278E-5 40937 0 6.25E-4
4-125592311-A-G p.Asp707Asp synonymous ANKRD50 1 81800 1.22249E-5 40900 0 3.99457E-6
4-125592328-C-G p.Glu702Gln missense ANKRD50 2 81742 2.44672E-5 40871 0 1.64997E-5
4-125592336-T-C p.His699Arg missense ANKRD50 1 81728 1.22357E-5 40864 0 NA
4-125592339-T-C p.Asp698Gly missense ANKRD50 1 81662 1.22456E-5 40831 0 3.99648E-6
4-125592346-G-C p.Leu696Val missense ANKRD50 10 81690 1.22414E-4 40845 0 1.19906E-5
4-125592352-C-T p.Glu694Lys missense ANKRD50 2 81712 2.44762E-5 40856 0 NA
4-125592355-C-A p.Val693Leu missense ANKRD50 1 81694 1.22408E-5 40847 0 NA
4-125592368-T-C p.Gly688Gly synonymous ANKRD50 62 81844 7.57539E-4 40922 0 0.00111472
4-125592377-T-G p.Ala685Ala synonymous ANKRD50 1 81976 1.21987E-5 40988 0 3.18431E-5
4-125592392-A-G p.Ala680Ala synonymous ANKRD50 1 82124 1.21767E-5 41062 0 NA
4-125592401-A-G p.Gly677Gly synonymous ANKRD50 1 82302 1.21504E-5 41151 0 NA
4-125592409-T-C p.Asn675Asp missense ANKRD50 1 82414 1.21339E-5 41207 0 NA
4-125592414-G-A p.Ala673Val missense ANKRD50 2 82492 2.42448E-5 41246 0 3.98676E-6
4-125592418-T-C p.Lys672Glu missense ANKRD50 1 82568 1.21112E-5 41284 0 NA
4-125592430-C-T p.Ala668Thr missense ANKRD50 1 82740 1.20861E-5 41370 0 3.18492E-5
4-125592431-G-A p.Gly667Gly synonymous ANKRD50 2 82736 2.41733E-5 41368 0 2.47325E-5
4-125592435-T-A p.His666Leu missense ANKRD50 1 82826 1.20735E-5 41413 0 NA
4-125592436-G-A p.His666Tyr missense ANKRD50 1 82836 1.2072E-5 41418 0 3.98375E-6
4-125592437-T-C p.Gln665Gln synonymous ANKRD50 4 82840 4.82859E-5 41420 0 0.00100705
4-125592440-T-C p.Leu664Leu synonymous ANKRD50 5029 82768 0.0607602 41384 203 0.095625
4-125592464-G-A p.His656His synonymous ANKRD50 6 83042 7.22526E-5 41521 0 5.03525E-4
4-125592467-T-C p.Gly655Gly synonymous ANKRD50 1 83050 1.20409E-5 41525 0 NA
4-125592494-T-C p.Thr646Thr synonymous ANKRD50 3 83114 3.6095E-5 41557 0 3.29674E-5
4-125592498-C-T p.Arg645Gln missense ANKRD50 1 83122 1.20305E-5 41561 0 1.64834E-5
4-125592508-C-A p.Ala642Ser missense ANKRD50 1 83134 1.20288E-5 41567 0 NA
4-125592512-T-C p.Ala640Ala synonymous ANKRD50 1 83148 1.20267E-5 41574 0 3.18492E-5
4-125592529-C-T p.Val635Ile missense ANKRD50 2 83132 2.40581E-5 41566 0 3.29674E-5
4-125592544-G-A p.Leu630Leu synonymous ANKRD50 2 83154 2.40518E-5 41577 0 8.24185E-6
4-125592558-T-C p.Glu625Gly missense ANKRD50 1 83152 1.20262E-5 41576 0 NA
4-125592600-C-T p.Gly611Asp missense ANKRD50 4 83098 4.81359E-5 41549 0 2.78598E-5
4-125592602-A-G p.Asp610Asp synonymous ANKRD50 2 83096 2.40685E-5 41548 0 8.24117E-6
4-125592608-A-T p.Asp608Glu missense ANKRD50 2 83050 2.40819E-5 41525 0 7.95995E-6
4-125592615-T-C p.His606Arg missense ANKRD50 2 83032 2.40871E-5 41516 0 1.59209E-5
4-125592632-A-G p.Cys600Cys synonymous ANKRD50 1 82914 1.20607E-5 41457 0 NA
4-125592643-A-C p.Leu597Val missense ANKRD50 2 82896 2.41266E-5 41448 0 3.18796E-5
4-125592653-C-T p.Val593Val synonymous ANKRD50 1 82890 1.20642E-5 41445 0 3.98245E-6
4-125592664-G-A p.His590Tyr missense ANKRD50 1 82908 1.20616E-5 41454 0 NA
4-125592667-C-A p.Gly589* stop_gained ANKRD50 1 82898 1.2063E-5 41449 0 NA
4-125592674-A-G p.Ala586Ala synonymous ANKRD50 15 82942 1.80849E-4 41471 0 5.03525E-4
4-125592677-C-T p.Ala585Ala synonymous ANKRD50 4 82928 4.82346E-5 41464 0 9.55779E-5
4-125592677-C-A p.Ala585Ala synonymous ANKRD50 1 82928 1.20587E-5 41464 0 NA
4-125592678-G-A p.Ala585Val missense ANKRD50 1 82908 1.20616E-5 41454 0 NA
4-125592682-G-A p.Leu584Leu synonymous ANKRD50 2 82966 2.41063E-5 41483 0 2.47357E-5
4-125592683-A-C p.Thr583Thr synonymous ANKRD50 1 82966 1.20531E-5 41483 0 NA
4-125592685-T-C p.Thr583Ala missense ANKRD50 1 82960 1.2054E-5 41480 0 NA
4-125592701-A-G p.His577His synonymous ANKRD50 1 83020 1.20453E-5 41510 0 3.98156E-6
4-125592702-T-C p.His577Arg missense ANKRD50 3 83028 3.61324E-5 41514 0 2.46864E-4
4-125592731-C-T p.Arg567Arg synonymous ANKRD50 30 83004 3.61428E-4 41502 0 0.00503525
4-125592732-C-T p.Arg567Lys missense ANKRD50 1 83006 1.20473E-5 41503 0 NA
4-125592737-G-A p.Val565Val synonymous ANKRD50 2 82994 2.40981E-5 41497 0 4.1229E-5
4-125592754-C-T p.Val560Ile missense ANKRD50 1 82956 1.20546E-5 41478 0 3.98352E-6
4-125592773-T-C p.Ala553Ala synonymous ANKRD50 35 82916 4.22114E-4 41458 0 8.27973E-4
4-125592773-T-A p.Ala553Ala synonymous ANKRD50 3 82918 3.61803E-5 41459 0 0.00100705
4-125592778-C-T p.Ala552Thr missense ANKRD50 3 82916 3.61812E-5 41458 0 3.18639E-5
4-125592781-T-C p.Asn551Asp missense ANKRD50 2 82896 2.41266E-5 41448 0 1.19498E-5
4-125592798-C-T p.Gly545Glu missense ANKRD50 29 82910 3.49777E-4 41455 2 0.004375
4-125592801-T-A p.Asn544Ile missense ANKRD50 1 82922 1.20595E-5 41461 0 NA
4-125592812-C-G p.Gln540His missense ANKRD50 1 82916 1.20604E-5 41458 0 8.24266E-6
4-125592829-C-T p.Gly535Arg missense ANKRD50 7 82948 8.43902E-5 41474 0 9.16072E-5
4-125592843-G-A p.Thr530Ile missense ANKRD50 1 82978 1.20514E-5 41489 0 NA
4-125592846-C-T p.Arg529Gln missense ANKRD50 18 82984 2.16909E-4 41492 0 2.638E-4
4-125592847-G-A p.Arg529Trp missense ANKRD50 1 82994 1.20491E-5 41497 0 8.36327E-5
4-125592856-C-T p.Asp526Asn missense ANKRD50 1 83016 1.20459E-5 41508 0 NA
4-125592864-T-C p.Glu523Gly missense ANKRD50 1 83044 1.20418E-5 41522 0 NA
4-125592869-G-A p.Ala521Ala synonymous ANKRD50 532 83020 0.00640809 41510 2 0.006875
4-125592874-G-C p.Gln520Glu missense ANKRD50 6 83050 7.22456E-5 41525 0 3.1839E-5
4-125592876-C-T p.Arg519Gln missense ANKRD50 2 83042 2.40842E-5 41521 0 8.24443E-6
4-125592890-T-C p.Thr514Thr synonymous ANKRD50 1 83036 1.2043E-5 41518 0 NA
4-125592891-G-A p.Thr514Ile missense ANKRD50 1 83030 1.20438E-5 41515 0 NA
4-125592894-C-T p.Arg513His missense ANKRD50 1 83022 1.2045E-5 41511 0 3.29826E-5
4-125592895-G-A p.Arg513Cys missense ANKRD50 1 83024 1.20447E-5 41512 0 4.77867E-5
4-125592895-G-T p.Arg513Ser missense ANKRD50 1 83024 1.20447E-5 41512 0 3.98222E-6
4-125592898-C-T p.Asp512Asn missense ANKRD50 1 83038 1.20427E-5 41519 0 3.982E-6
4-125592899-G-A p.Asp511Asp synonymous ANKRD50 4 83024 4.81788E-5 41512 0 6.76946E-5
4-125592909-T-C p.Asn508Ser missense ANKRD50 4 82984 4.82021E-5 41492 0 1.64905E-5
4-125592913-C-T p.Val507Ile missense ANKRD50 1 82984 1.20505E-5 41492 0 NA
4-125592914-A-G p.His506His synonymous ANKRD50 4 82974 4.82079E-5 41487 0 0.0025
4-125592915-T-G p.His506Pro missense ANKRD50 3 82970 3.61576E-5 41485 0 3.2981E-5
4-125592941-T-C p.Leu497Leu synonymous ANKRD50 1 82776 1.20808E-5 41388 0 NA
4-125592959-G-A p.Pro491Pro synonymous ANKRD50 1 82594 1.21074E-5 41297 0 NA
4-125592965-C-T p.Leu489Leu synonymous ANKRD50 3 82500 3.63636E-5 41250 0 9.55171E-5
4-125592967-A-T p.Leu489Met missense ANKRD50 2 82506 2.42407E-5 41253 0 5.03525E-4
4-125592990-G-A p.Pro481Leu missense ANKRD50 1 82314 1.21486E-5 41157 0 NA
4-125592998-A-G p.Asn478Asn synonymous ANKRD50 27 82260 3.28228E-4 41130 0 3.46272E-4
4-125592999-T-C p.Asn478Ser missense ANKRD50 2 82256 2.43143E-5 41128 0 NA
4-125593007-C-A p.Met475Ile missense ANKRD50 1 82220 1.21625E-5 41110 0 NA
4-125593026-G-A p.Ala469Val missense ANKRD50 6 82054 7.31226E-5 41027 0 3.29777E-5
4-125593033-C-G p.Glu467Gln missense ANKRD50 2 82084 2.43653E-5 41042 0 1.27405E-4
4-125593039-G-T p.Gln465Lys missense ANKRD50 3 82022 3.65756E-5 41011 0 0.001875
4-125593039-G-C p.Gln465Glu missense ANKRD50 2 82022 2.43837E-5 41011 0 1.5971E-5
4-125593045-T-C p.Asn463Asp missense ANKRD50 4 81982 4.87912E-5 40991 0 8.24416E-6
4-125593054-T-G p.Ile460Leu missense ANKRD50 2 82034 2.43801E-5 41017 0 NA
4-125593061-C-T p.Leu457Leu synonymous ANKRD50 4 82046 4.87531E-5 41023 0 1.73133E-4
4-125593064-T-C p.Ala456Ala synonymous ANKRD50 1 82072 1.21844E-5 41036 0 3.18512E-5
4-125593085-T-C p.Pro449Pro synonymous ANKRD50 6 82242 7.29554E-5 41121 0 3.18492E-5
4-125593100-G-C p.Ala444Ala synonymous ANKRD50 2 82326 2.42937E-5 41163 0 2.79247E-5
4-125593103-T-C p.Gln443Gln synonymous ANKRD50 2 82364 2.42825E-5 41182 0 3.18471E-5
4-125593112-A-G p.Tyr440Tyr synonymous ANKRD50 1 82394 1.21368E-5 41197 0 6.36862E-5
4-125593152-C-T p.Cys427Tyr missense ANKRD50 1 82340 1.21448E-5 41170 0 NA
4-125593160-C-A p.Lys424Asn missense ANKRD50 1 82326 1.21468E-5 41163 0 3.18471E-5
4-125593196-G-A p.Ala412Ala synonymous ANKRD50 2 82174 2.43386E-5 41087 0 4.94788E-5
4-125593240-C-G p.Asp398His missense ANKRD50 1 82550 1.21139E-5 41275 0 3.18512E-5
4-125593253-G-A p.Ser393Ser synonymous ANKRD50 3 82684 3.62827E-5 41342 0 NA
4-125593261-T-C p.Ile391Val missense ANKRD50 154 82748 0.00186107 41374 2 0.00286661
4-125593267-A-C p.Leu389Val missense ANKRD50 5 82764 6.04127E-5 41382 0 4.12398E-5
4-125593272-C-T p.Arg387His missense ANKRD50 2 82786 2.41587E-5 41393 0 6.37105E-5
4-125593273-G-A p.Arg387Cys missense ANKRD50 5 82792 6.03923E-5 41396 0 6.25E-4
4-125593279-A-T p.Phe385Ile missense ANKRD50 1 82832 1.20726E-5 41416 0 NA
4-125593288-A-T p.Leu382Met missense ANKRD50 2 82882 2.41307E-5 41441 0 NA
4-125593293-AACG-A p.Ser379del disruptive_inframe_deletion ANKRD50 1 82908 1.20616E-5 41454 0 NA
4-125593295-C-T p.Ser379Ser synonymous ANKRD50 2 82902 2.41249E-5 41451 0 NA
4-125593296-G-A p.Ser379Leu missense ANKRD50 2 82912 2.4122E-5 41456 0 3.18512E-5
4-125593303-T-G p.Asn377His missense ANKRD50 1 82916 1.20604E-5 41458 0 NA
4-125593313-T-C p.Val373Val synonymous ANKRD50 1 82912 1.2061E-5 41456 0 NA
4-125593316-T-C p.Ala372Ala synonymous ANKRD50 1 82902 1.20624E-5 41451 0 8.24565E-6
4-125593318-C-A p.Ala372Ser missense ANKRD50 1 82880 1.20656E-5 41440 0 8.24565E-6
4-125593319-G-A p.His371His synonymous ANKRD50 3 82900 3.61882E-5 41450 0 3.50318E-4
4-125593332-G-A p.Thr367Met missense ANKRD50 617 82846 0.00744755 41423 2 0.0100705
4-125593336-T-C p.Ile366Val missense ANKRD50 2 82834 2.41447E-5 41417 0 8.24783E-6
4-125593347-C-T p.Arg362Gln missense ANKRD50 1 82796 1.20779E-5 41398 0 8.25123E-6
4-125593356-G-A p.Ala359Val missense ANKRD50 1 82740 1.20861E-5 41370 0 NA
4-125593360-G-A p.Leu358Phe missense ANKRD50 1 82732 1.20872E-5 41366 0 NA
4-125593377-G-C p.Pro352Arg missense ANKRD50 1 82608 1.21054E-5 41304 0 3.98791E-6
4-125593379-C-A p.Gln351His missense ANKRD50 2 82582 2.42184E-5 41291 0 2.47971E-5
4-125593384-C-T p.Val350Ile missense ANKRD50 1 82560 1.21124E-5 41280 0 NA
4-125593385-C-A p.Lys349Asn missense ANKRD50 1 82568 1.21112E-5 41284 0 NA
4-125593394-T-C p.Gln346Gln synonymous ANKRD50 2 82566 2.4223E-5 41283 0 3.18593E-5
4-125593407-A-C p.Phe342Cys missense ANKRD50 1 82524 1.21177E-5 41262 0 8.27458E-6
4-125593438-C-A p.Gly332Cys missense ANKRD50 1 82524 1.21177E-5 41262 0 NA
4-125593439-A-G p.Asn331Asn synonymous ANKRD50 3 82518 3.63557E-5 41259 0 NA
4-125593454-G-A p.Ile326Ile synonymous ANKRD50 1 82538 1.21156E-5 41269 0 NA
4-125593466-T-C p.Glu322Glu synonymous ANKRD50 1 82558 1.21127E-5 41279 0 1.59276E-4
4-125593472-T-C p.Leu320Leu synonymous ANKRD50 1 82546 1.21145E-5 41273 0 3.18593E-5
4-125593475-C-A p.Met319Ile missense ANKRD50 2 82560 2.42248E-5 41280 0 NA
4-125593476-A-T p.Met319Lys missense ANKRD50 4 82562 4.84484E-5 41281 0 NA
4-125593478-A-T p.Ile318Ile synonymous ANKRD50 1 82576 1.21101E-5 41288 0 NA
4-125593492-C-T p.Val314Ile missense ANKRD50 3 82608 3.63161E-5 41304 0 8.33417E-6
4-125593496-T-C p.Gly312Gly synonymous ANKRD50 1 82642 1.21004E-5 41321 0 NA
4-125593527-C-T p.Cys302Tyr missense ANKRD50 1 82758 1.20834E-5 41379 0 4.00106E-6
4-125593547-C-G p.Leu295Leu synonymous ANKRD50 1 82878 1.20659E-5 41439 0 8.45108E-6
4-125593549-G-A p.Leu295Leu synonymous ANKRD50 1 82880 1.20656E-5 41440 0 3.18492E-5
4-125593552-G-T p.Gln294Lys missense ANKRD50 1 82870 1.20671E-5 41435 0 1.19921E-5
4-125593554-T-C p.Asn293Ser missense ANKRD50 2 82882 2.41307E-5 41441 0 3.99575E-6
4-125593562-C-G p.Glu290Asp missense ANKRD50 1 82890 1.20642E-5 41445 0 NA
4-125593562-C-A p.Glu290Asp missense ANKRD50 1 82890 1.20642E-5 41445 0 3.99715E-6
4-125593565-T-C p.Ala289Ala synonymous ANKRD50 2 82906 2.41237E-5 41453 0 NA
4-125593566-G-T p.Ala289Glu missense ANKRD50 1 82908 1.20616E-5 41454 0 NA
4-125593568-A-T p.Thr288Thr synonymous ANKRD50 2 82906 2.41237E-5 41453 0 NA
4-125593570-T-C p.Thr288Ala missense ANKRD50 2 82914 2.41214E-5 41457 0 NA
4-125593572-T-G p.Glu287Ala missense ANKRD50 2 82918 2.41202E-5 41459 0 NA
4-125593577-T-C p.Thr285Thr synonymous ANKRD50 550 82910 0.0066337 41455 10 0.0140863
4-125593584-T-C p.His283Arg missense ANKRD50 1 82940 1.20569E-5 41470 0 8.85175E-6
4-125593587-T-C p.Gln282Arg missense ANKRD50 1 82934 1.20578E-5 41467 0 4.00763E-6
4-125593590-C-T p.Arg281Gln missense ANKRD50 2 82938 2.41144E-5 41469 0 8.93591E-6
4-125593617-T-A p.His272Leu missense ANKRD50 1 82892 1.20639E-5 41446 0 NA
4-125593617-T-C p.His272Arg missense ANKRD50 1 82892 1.20639E-5 41446 0 9.37875E-6
4-125593628-C-T p.Gln268Gln synonymous ANKRD50 1 82834 1.20723E-5 41417 0 NA
4-125593631-C-T p.Gln267Gln synonymous ANKRD50 1 82806 1.20764E-5 41403 0 NA
4-125593633-G-C p.Gln267Glu missense ANKRD50 1 82792 1.20785E-5 41396 0 3.18654E-4
4-125593642-T-G p.Lys264Gln missense ANKRD50 1 82748 1.20849E-5 41374 0 NA
4-125593645-C-T p.Val263Ile missense ANKRD50 4 82708 4.83629E-5 41354 0 2.07723E-5
4-125593650-T-C p.Tyr261Cys missense ANKRD50 8 82674 9.67656E-5 41337 0 2.09417E-5
4-125593658-C-G p.Arg258Arg synonymous ANKRD50 1 82536 1.21159E-5 41268 0 8.63304E-6
4-125593659-C-T p.Arg258Gln missense ANKRD50 2 82522 2.4236E-5 41261 0 3.18979E-5
4-125593660-G-A p.Arg258Trp missense ANKRD50 2 82494 2.42442E-5 41247 0 NA
4-125593664-G-C p.Asp256Glu missense ANKRD50 1 82440 1.213E-5 41220 0 NA
4-125593678-T-C p.Ile252Val missense ANKRD50 2 82176 2.4338E-5 41088 0 1.62405E-4
4-125593683-C-T p.Arg250Gln missense ANKRD50 1 82042 1.21889E-5 41021 0 3.19428E-5
4-125593684-GA-TG p.PheArg249PheArg synonymous ANKRD50 2 82046 2.43766E-5 41023 0 NA
4-125593692-AAAG-A c.743-6_743-4delCTT splice_region ANKRD50 7 81892 8.54784E-5 40946 0 1.48209E-4
4-125599823-A-G c.742+8T>C splice_region ANKRD50 1 82872 1.20668E-5 41436 0 NA
4-125599824-T-C c.742+7A>G splice_region ANKRD50 1 82888 1.20645E-5 41444 0 NA
4-125599867-G-C p.Arg236Gly missense ANKRD50 4 83078 4.81475E-5 41539 0 1.19418E-5
4-125599872-G-C p.Ser234Cys missense ANKRD50 2 83106 2.40657E-5 41553 0 8.24008E-6
4-125599877-G-C p.Leu232Leu synonymous ANKRD50 1 83126 1.20299E-5 41563 0 NA
4-125599885-A-G p.Leu230Leu synonymous ANKRD50 2 83148 2.40535E-5 41574 0 3.97896E-6
4-125599886-T-G p.Leu229Leu synonymous ANKRD50 1 83144 1.20273E-5 41572 0 3.97886E-6
4-125599898-A-T p.Phe225Leu missense ANKRD50 1 83176 1.20227E-5 41588 0 3.18471E-5
4-125599908-T-C p.His222Arg missense ANKRD50 3 83186 3.60638E-5 41593 0 1.27304E-4
4-125599945-A-C p.Leu210Val missense ANKRD50 1 83198 1.20195E-5 41599 0 NA
4-125599948-T-C p.Ser209Gly missense ANKRD50 1 83174 1.2023E-5 41587 0 NA
4-125599949-G-A p.Thr208Thr synonymous ANKRD50 2 83172 2.40466E-5 41586 0 NA
4-125599950-G-A p.Thr208Ile missense ANKRD50 4 83174 4.8092E-5 41587 0 1.64747E-5
4-125599955-C-T p.Thr206Thr synonymous ANKRD50 45 83162 5.41113E-4 41581 0 9.56084E-4
4-125599956-G-A p.Thr206Met missense ANKRD50 1 83168 1.20239E-5 41584 0 7.95608E-6
4-125599958-T-C p.Gln205Gln synonymous ANKRD50 2 83164 2.40489E-5 41582 0 4.77369E-5
4-125599975-T-A p.Ile200Phe missense ANKRD50 4 83116 4.81255E-5 41558 0 6.25E-4
4-125599975-T-C p.Ile200Val missense ANKRD50 1 83116 1.20314E-5 41558 0 NA
4-125600013-A-G p.Leu187Pro missense ANKRD50 1 82838 1.20718E-5 41419 0 NA
4-125600021-C-T p.Gln184Gln synonymous ANKRD50 1 82710 1.20904E-5 41355 0 3.18512E-5
4-125600051-T-G p.Leu174Leu synonymous ANKRD50 3 82064 3.65568E-5 41032 0 1.66384E-5
4-125600053-G-A p.Leu174Leu synonymous ANKRD50 1 81966 1.22002E-5 40983 0 3.18492E-5
4-125600057-A-G p.Cys172Cys synonymous ANKRD50 2 81806 2.44481E-5 40903 0 NA
4-125600060-C-T c.-25G>A 5_prime_UTR_premature_start_codon_gain ANKRD50 6 81704 7.34358E-5 40852 0 3.18512E-5
4-125600067-A-C c.513-7T>G splice_region ANKRD50 3 81396 3.68568E-5 40698 0 2.22887E-4
4-125631166-T-C p.Glu167Glu synonymous ANKRD50 1 83192 1.20204E-5 41596 0 1.20559E-5
4-125631168-C-T p.Glu167Lys missense ANKRD50 3 83194 3.60603E-5 41597 0 7.45292E-5
4-125631174-G-A p.Pro165Ser missense ANKRD50 1 83254 1.20114E-5 41627 0 NA
4-125631176-T-G p.Asn164Thr missense ANKRD50 1 83252 1.20117E-5 41626 0 8.00878E-6
4-125631184-G-A p.Cys161Cys synonymous ANKRD50 3 83286 3.60205E-5 41643 0 1.91083E-4
4-125631187-C-T p.Glu160Glu synonymous ANKRD50 3 83318 3.60066E-5 41659 0 6.25E-4
4-125631191-C-G p.Gly159Ala missense ANKRD50 1 83332 1.20002E-5 41666 0 NA
4-125631191-C-T p.Gly159Glu missense ANKRD50 1 83332 1.20002E-5 41666 0 1.07216E-4
4-125631199-T-C p.Leu156Leu synonymous ANKRD50 1614 83322 0.0193706 41661 20 0.0153784
4-125631226-T-C p.Leu147Leu synonymous ANKRD50 166 83366 0.00199122 41683 2 0.00100705
4-125631230-T-C p.Lys146Arg missense ANKRD50 1 83376 1.19939E-5 41688 0 3.97738E-6
4-125631250-T-C p.Leu139Leu synonymous ANKRD50 627 83354 0.00752213 41677 15 0.0140199
4-125631261-G-A p.Arg136Cys missense ANKRD50 276 83372 0.00331046 41686 1 0.00553877
4-125631262-G-A p.Cys135Cys synonymous ANKRD50 289 83376 0.00346623 41688 3 0.003125
4-125631265-G-T p.Ile134Ile synonymous ANKRD50 2 83382 2.3986E-5 41691 0 NA
4-125631277-T-C p.Leu130Leu synonymous ANKRD50 1 83384 1.19927E-5 41692 0 3.18471E-5
4-125631282-C-A p.Gly129Cys missense ANKRD50 1 83384 1.19927E-5 41692 0 3.97659E-6
4-125631295-T-C p.Gly124Gly synonymous ANKRD50 1 83394 1.19913E-5 41697 0 NA
4-125631310-A-G p.Asp119Asp synonymous ANKRD50 2 83396 2.3982E-5 41698 0 1.91071E-4
4-125631320-T-C p.Gln116Arg missense ANKRD50 1 83390 1.19918E-5 41695 0 3.97624E-6
4-125631331-G-A p.Phe112Phe synonymous ANKRD50 1 83398 1.19907E-5 41699 0 3.18573E-5
4-125631373-A-T p.Ser98Arg missense ANKRD50 1 83392 1.19916E-5 41696 0 2.47101E-5
4-125631379-A-G p.Pro96Pro synonymous ANKRD50 2 83386 2.39848E-5 41693 0 2.47101E-5
4-125631380-G-A p.Pro96Leu missense ANKRD50 2 83386 2.39848E-5 41693 0 8.23669E-6
4-125631394-T-C p.Leu91Leu synonymous ANKRD50 51 83388 6.11599E-4 41694 0 3.50318E-4
4-125631409-T-C p.Leu86Leu synonymous ANKRD50 2 83396 2.3982E-5 41698 0 8.23669E-6
4-125631411-G-C p.Leu86Val missense ANKRD50 2 83396 2.3982E-5 41698 0 2.47101E-5
4-125631411-G-A p.Leu86Leu synonymous ANKRD50 4 83396 4.79639E-5 41698 0 6.37146E-5
4-125631427-G-T p.Gly80Gly synonymous ANKRD50 1 83396 1.1991E-5 41698 0 NA
4-125631434-C-T p.Gly78Glu missense ANKRD50 2 83388 2.39843E-5 41694 0 7.95342E-6
4-125631441-C-T p.Val76Ile missense ANKRD50 4 83382 4.7972E-5 41691 1 5.03525E-4
4-125631442-C-T p.Leu75Leu synonymous ANKRD50 1 83382 1.1993E-5 41691 0 NA
4-125631458-G-A p.Ala70Val missense ANKRD50 1 83376 1.19939E-5 41688 0 3.18573E-5
4-125631478-A-C p.Gly63Gly synonymous ANKRD50 2 83380 2.39866E-5 41690 0 1.19292E-5
4-125631505-T-G p.Val54Val synonymous ANKRD50 1 83388 1.19921E-5 41694 0 3.97627E-6
4-125631506-A-G p.Val54Ala missense ANKRD50 1 83386 1.19924E-5 41693 0 8.23655E-6
4-125631516-G-T p.Pro51Thr missense ANKRD50 1 83378 1.19936E-5 41689 0 NA
4-125631530-C-G p.Ser46Thr missense ANKRD50 1 83366 1.19953E-5 41683 0 NA
4-125631546-T-G p.Ser41Arg missense ANKRD50 3 83366 3.59859E-5 41683 0 4.11834E-5
4-125631552-C-T p.Glu39Lys missense ANKRD50 2 83362 2.39917E-5 41681 0 NA
4-125631554-T-C p.Gln38Arg missense ANKRD50 2 83364 2.39912E-5 41682 0 NA
4-125631564-G-A p.His35Tyr missense ANKRD50 1 83362 1.19959E-5 41681 0 7.55491E-5
4-125631641-A-G p.Val9Ala missense ANKRD50 1 83330 1.20005E-5 41665 0 NA
4-125631654-A-G p.Trp5Arg missense ANKRD50 1 83312 1.20031E-5 41656 0 NA
4-125631656-G-A p.Pro4Leu missense ANKRD50 3 83306 3.60118E-5 41653 0 1.91071E-4
4-125631670-G-A c.-4C>T 5_prime_UTR_premature_start_codon_gain ANKRD50 1 83252 1.20117E-5 41626 0 NA
4-125631748-T-C c.-82A>G 5_prime_UTR_premature_start_codon_gain ANKRD50 2 80702 2.47825E-5 40351 0 NA
4-125631774-T-C c.-108A>G 5_prime_UTR_premature_start_codon_gain ANKRD50 1 77900 1.2837E-5 38950 0 NA
4-125631867-T-C c.-201A>G 5_prime_UTR_premature_start_codon_gain ANKRD50 1 49014 2.04023E-5 24507 0 NA
4-125631918-C-T c.-252G>A 5_prime_UTR_premature_start_codon_gain ANKRD50 1 28550 3.50263E-5 14275 0 3.18309E-5
4-125631942-C-A c.-276G>T 5_prime_UTR_premature_start_codon_gain ANKRD50 6 19894 3.01598E-4 9947 0 2.86515E-4
4-125631958-T-C c.-292A>G 5_prime_UTR_premature_start_codon_gain ANKRD50 29 13944 0.00207975 6972 0 2.22887E-4