Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-96953961-A-G c.-121A>G 5_prime_UTR_premature_start_codon_gain C10orf129 2 13112 1.52532E-4 6556 0 NA
10-96954041-A-G c.-41A>G 5_prime_UTR_premature_start_codon_gain C10orf129 1 42392 2.35894E-5 21196 0 NA
10-96954052-T-C c.-30T>C 5_prime_UTR_premature_start_codon_gain C10orf129 3 46470 6.45578E-5 23235 0 NA
10-96954061-G-T c.-22+1G>T splice_donor C10orf129 1 50108 1.99569E-5 25054 0 NA
10-96954061-G-C c.-22+1G>C splice_donor C10orf129 1 50108 1.99569E-5 25054 0 NA
10-96954066-T-G c.-22+6T>G splice_region C10orf129 2 52772 3.78989E-5 26386 0 9.55353E-5
10-96954222-G-A c.-21G>A 5_prime_UTR_premature_start_codon_gain C10orf129 2 82230 2.4322E-5 41115 0 4.81186E-5
10-96954247-T-G p.Leu2Arg missense C10orf129 5 82676 6.0477E-5 41338 0 5.57362E-4
10-96954252-C-T p.Arg4* stop_gained C10orf129 41 82706 4.95732E-4 41353 0 0.00251256
10-96954260-A-T p.Gln6His missense C10orf129 1 82728 1.20878E-5 41364 0 9.23788E-5
10-96954276-C-T p.Arg12Trp missense C10orf129 6 82762 7.2497E-5 41381 0 4.46104E-5
10-96954277-G-A p.Arg12Gln missense C10orf129 1 82762 1.20828E-5 41381 0 0.00241546
10-96954279-A-G p.Ser13Gly missense C10orf129 2 82756 2.41674E-5 41378 0 4.59812E-5
10-96954291-G-A p.Gly17Arg missense C10orf129 2 82772 2.41628E-5 41386 0 NA
10-96954298-A-G p.Glu19Gly missense C10orf129 44578 82442 0.54072 41221 12494 0.622892
10-96954310-A-C p.Tyr23Ser missense C10orf129 1 82772 1.20814E-5 41386 0 NA
10-96954322-A-T p.Lys27Ile missense C10orf129 1 82788 1.2079E-5 41394 0 NA
10-96954337-C-G p.Thr32Ser missense C10orf129 1 82786 1.20793E-5 41393 0 6.31353E-6
10-96954341-C-T p.Ile33Ile synonymous C10orf129 1 82792 1.20785E-5 41396 0 NA
10-96954345-C-A p.Pro35Thr missense C10orf129 1 82794 1.20782E-5 41397 0 NA
10-96954346-C-T p.Pro35Leu missense C10orf129 3 82796 3.62336E-5 41398 0 NA
10-96954348-C-T p.Pro36Ser missense C10orf129 1 82796 1.20779E-5 41398 0 1.2617E-5
10-96954360-T-A p.Cys40Ser missense C10orf129 25344 82570 0.30694 41285 4394 0.330464
10-96954408-T-C c.-300T>C 5_prime_UTR_premature_start_codon_gain C10orf129 1 82734 1.20869E-5 41367 0 NA
10-96954419-G-T p.Trp59Cys missense C10orf129 1 82708 1.20907E-5 41354 0 NA
10-96954424-A-G p.Gln61Arg missense C10orf129 1 82696 1.20925E-5 41348 0 6.33577E-6
10-96961209-TCAGCTCCATCCATGTTGCTGCAAAAGA-T p.Leu70_Gln78del conservative_inframe_deletion C10orf129 1 8012 1.24813E-4 4006 0 3.50207E-4
10-96961218-T-A p.His71Gln missense C10orf129 1 8026 1.24595E-4 4013 0 NA
10-96961222-T-C p.Cys73Arg missense C10orf129 1 8028 1.24564E-4 4014 0 7.82595E-6
10-96961228-T-C p.Cys75Arg missense C10orf129 4 8030 4.98132E-4 4015 0 8.91606E-4
10-96961282-T-C c.*15+4T>C splice_region C10orf129 3 8046 3.72856E-4 4023 0 3.50252E-4
10-96961744-C-T c.-271C>T 5_prime_UTR_premature_start_codon_gain C10orf129 5 82078 6.09177E-5 41039 0 3.18492E-5
10-96961745-G-A p.Gly66Arg missense C10orf129 3 82078 3.65506E-5 41039 0 6.39681E-6
10-96961746-G-A p.Gly66Glu missense C10orf129 2 82112 2.4357E-5 41056 0 3.18532E-5
10-96961754-G-C p.Gly69Arg missense C10orf129 1 82190 1.21669E-5 41095 0 NA
10-96961761-A-G p.Tyr71Cys missense C10orf129 1 82212 1.21637E-5 41106 0 3.18552E-5
10-96961762-C-A p.Tyr71* stop_gained C10orf129 1 82248 1.21584E-5 41124 0 NA
10-96961763-C-T p.Pro72Ser missense C10orf129 1 82242 1.21592E-5 41121 0 6.39133E-6
10-96961765-C-T c.-250C>T 5_prime_UTR_premature_start_codon_gain C10orf129 2 82240 2.43191E-5 41120 0 4.60236E-5
10-96961766-G-A p.Ala73Thr missense C10orf129 12 82250 1.45897E-4 41125 0 9.55901E-5
10-96961768-C-T p.Ala73Ala synonymous C10orf129 1 82290 1.21521E-5 41145 0 6.38667E-6
10-96961777-G-C p.Lys76Asn missense C10orf129 337 82346 0.00409249 41173 1 0.00891833
10-96961778-G-C p.Val77Leu missense C10orf129 1 82348 1.21436E-5 41174 0 3.18512E-5
10-96961782-G-C p.Ser78Thr missense C10orf129 2 82368 2.42813E-5 41184 0 NA
10-96961791-G-T p.Gly81Val missense C10orf129 1 82416 1.21336E-5 41208 0 0.00120482
10-96961793-GA-G p.Glu83fs frameshift C10orf129 23 82422 2.79052E-4 41211 0 0.00116566
10-96961799-G-C p.Asp84His missense C10orf129 1 82436 1.21306E-5 41218 0 NA
10-96961800-AC-A p.Asp84fs frameshift C10orf129 8 82456 9.70214E-5 41228 0 1.27429E-4
10-96961801-C-T p.Asp84Asp synonymous C10orf129 1 82456 1.21277E-5 41228 0 3.18573E-5
10-96961841-G-T p.Ala98Ser missense C10orf129 24 82406 2.91241E-4 41203 0 2.23015E-4
10-96961844-G-A p.Ala99Thr missense C10orf129 2 82402 2.42713E-5 41201 0 6.25E-4
10-96961887-G-A p.Arg113Gln missense C10orf129 9 81984 1.09778E-4 40992 0 8.7184E-5
10-96961896-T-C p.Ile116Thr missense C10orf129 2 81848 2.44355E-5 40924 0 4.36034E-5
10-96961905-C-T p.Pro119Leu missense C10orf129 4 81638 4.89968E-5 40819 0 4.36796E-5
10-96961909-A-G p.Pro120Pro synonymous C10orf129 9 81552 1.10359E-4 40776 0 0.00119048
10-96961935-T-C p.Leu129Pro missense C10orf129 1 80376 1.24415E-5 40188 0 NA
10-96961946-C-T p.Arg133Cys missense C10orf129 1 79548 1.2571E-5 39774 0 6.37625E-6
10-96961947-G-A p.Arg133His missense C10orf129 2 79442 2.51756E-5 39721 0 9.5584E-5
10-96966977-T-C p.Cys136Arg missense C10orf129 1 83308 1.20036E-5 41654 0 NA
10-96966984-G-C p.Gly138Ala missense C10orf129 1 83322 1.20016E-5 41661 0 NA
10-96966986-GC-G p.Ser141fs frameshift C10orf129 1 83336 1.19996E-5 41668 0 NA
10-96966991-C-G p.Gln144Glu missense C10orf129 2 83350 2.39952E-5 41675 0 NA
10-96966993-G-A p.Ser141Asn missense C10orf129 1 83352 1.19973E-5 41676 0 NA
10-96966994-C-G p.Ser141Arg missense C10orf129 1 83354 1.1997E-5 41677 0 NA
10-96967004-AG-A p.Ile150fs frameshift C10orf129 2 83366 2.39906E-5 41683 0 NA
10-96967012-C-T p.Arg151Cys missense C10orf129 2 83356 2.39935E-5 41678 0 4.12072E-5
10-96967013-G-A p.Arg151His missense C10orf129 3 83358 3.59893E-5 41679 0 6.37267E-5
10-96967017-T-C p.Tyr152Tyr synonymous C10orf129 1 83366 1.19953E-5 41683 0 NA
10-96967024-C-T p.Arg155Cys missense C10orf129 51 83372 6.11716E-4 41686 1 0.00133766
10-96967025-G-A p.Arg155His missense C10orf129 86 83374 0.0010315 41687 1 0.00352467
10-96967025-G-T p.Arg155Leu missense C10orf129 1 83380 1.19933E-5 41690 0 8.24008E-6
10-96967030-T-G p.Ser157Ala missense C10orf129 1 83378 1.19936E-5 41689 0 3.97693E-6
10-96967032-T-C p.Ser157Ser synonymous C10orf129 22 83386 2.63833E-4 41693 0 3.50341E-4
10-96967062-T-TA p.Met168fs frameshift C10orf129 23 83390 2.75812E-4 41695 1 5.09554E-4
10-96967073-T-G p.Val171Gly missense C10orf129 1 83386 1.19924E-5 41693 0 3.18471E-5
10-96967073-T-C p.Val171Ala missense C10orf129 1 83386 1.19924E-5 41693 0 6.36943E-5
10-96967073-T-TTGTA p.Asn173fs frameshift C10orf129 1 83386 1.19924E-5 41693 0 NA
10-96967083-T-G p.Ser174Ser synonymous C10orf129 2 83384 2.39854E-5 41692 0 NA
10-96967086-C-T p.Ala175Ala synonymous C10orf129 1 83372 1.19944E-5 41686 0 3.97722E-6
10-96967087-G-A p.Val176Met missense C10orf129 11 83378 1.31929E-4 41689 0 3.50318E-4
10-96967091-C-T p.Ser177Phe missense C10orf129 1 83376 1.19939E-5 41688 0 NA
10-96967092-C-T p.Ser177Ser synonymous C10orf129 3 83378 3.59807E-5 41689 0 3.18552E-5
10-96967093-G-A p.Asp178Asn missense C10orf129 2 83378 2.39871E-5 41689 0 2.47186E-5
10-96967097-G-A p.Cys179Tyr missense C10orf129 2 83378 2.39871E-5 41689 0 NA
10-96967099-C-A p.Pro180Thr missense C10orf129 1 83368 1.1995E-5 41684 0 8.23873E-6
10-96967113-C-A p.Thr184Thr synonymous C10orf129 1 83360 1.19962E-5 41680 0 NA
10-96967123-G-A p.Val188Met missense C10orf129 1 83358 1.19964E-5 41679 0 3.9782E-6
10-96967130-A-G p.Asp190Gly missense C10orf129 1 83360 1.19962E-5 41680 0 3.18552E-5
10-96967141-G-C p.Asp194His missense C10orf129 1 83332 1.20002E-5 41666 0 3.97823E-6
10-96967143-T-C p.Asp194Asp synonymous C10orf129 2 83332 2.40004E-5 41666 0 1.64878E-5
10-96967144-G-A p.Gly195Arg missense C10orf129 2 83338 2.39987E-5 41669 0 NA
10-96967150-T-C p.Leu197Leu synonymous C10orf129 1 83312 1.20031E-5 41656 0 3.46103E-4
10-96967161-G-A p.Lys200Lys synonymous C10orf129 1 83258 1.20109E-5 41629 0 1.65011E-5
10-96967177-G-T c.*175+5G>T splice_region C10orf129 1 83116 1.20314E-5 41558 0 NA
10-96970400-C-T c.*176-7C>T splice_region C10orf129 3 82808 3.62284E-5 41404 0 6.37267E-5
10-96970402-TAC-T c.*176-4_*176-3delAC splice_region C10orf129 28 82824 3.38066E-4 41412 0 8.00705E-6
10-96970439-C-A p.Thr215Asn missense C10orf129 1 82852 1.20697E-5 41426 0 1.64967E-5
10-96970451-A-G p.Asp219Gly missense C10orf129 1 82868 1.20674E-5 41434 0 NA
10-96970459-GC-G p.Ile223fs frameshift C10orf129 1 82868 1.20674E-5 41434 0 NA
10-96970463-T-C p.Ile223Thr missense C10orf129 37 82878 4.46439E-4 41439 0 0.00151057
10-96970475-A-G p.Lys227Arg missense C10orf129 1666 82870 0.0201038 41435 92 0.0419217
10-96970481-C-T p.Thr229Ile missense C10orf129 1 82910 1.20613E-5 41455 0 NA
10-96970490-C-T p.Ala232Val missense C10orf129 1 82904 1.20621E-5 41452 0 1.19473E-5
10-96970500-G-T p.Met235Ile missense C10orf129 30 82936 3.61725E-4 41468 0 0.003125
10-96970504-G-A p.Glu237Lys missense C10orf129 1 82932 1.20581E-5 41466 0 8.2447E-6
10-96970507-T-G p.Tyr238Asp missense C10orf129 1 82930 1.20584E-5 41465 0 8.24525E-6
10-96970539-C-G p.Ser248Arg missense C10orf129 1 82892 1.20639E-5 41446 0 NA
10-96970541-A-C p.Gln249Pro missense C10orf129 1 82898 1.2063E-5 41449 0 NA
10-96970542-G-A p.Gln249Gln synonymous C10orf129 66 82902 7.96121E-4 41451 0 0.00127397
10-96970543-G-A p.Ala250Thr missense C10orf129 2 82896 2.41266E-5 41448 0 1.65717E-5
10-96970555-G-A c.*319+5G>A splice_region C10orf129 54 82812 6.52079E-4 41406 0 4.39958E-4
10-96971628-T-C c.*320-7T>C splice_region C10orf129 1 83100 1.20337E-5 41550 0 NA
10-96971636-C-T p.Arg253Trp missense+splice_region C10orf129 6 83146 7.21622E-5 41573 0 5.03525E-4
10-96971637-G-A p.Arg253Gln missense+splice_region C10orf129 4 83160 4.81E-5 41580 0 3.1839E-5
10-96971638-G-A p.Arg253Arg synonymous C10orf129 6998 82850 0.0844659 41425 301 0.0787311
10-96971645-GA-TT p.Asp256Phe missense C10orf129 1 83188 1.2021E-5 41594 0 NA
10-96971660-G-A p.Asp261Asn missense C10orf129 1 83230 1.20149E-5 41615 0 8.09147E-6
10-96971690-G-A p.Gly271Ser missense C10orf129 1 83274 1.20085E-5 41637 0 7.97715E-6
10-96971700-T-C p.Leu274Ser missense C10orf129 1 83260 1.20106E-5 41630 0 3.98413E-6
10-96971701-A-C p.Leu274Phe missense C10orf129 4 83266 4.80388E-5 41633 0 3.18471E-5
10-96971702-T-C p.Ser275Pro missense C10orf129 2 83266 2.40194E-5 41633 0 7.9673E-6
10-96971710-C-T p.Ser277Ser synonymous C10orf129 3 83262 3.60308E-5 41631 0 6.36862E-5
10-96971711-G-A p.Ala278Thr missense C10orf129 2 83252 2.40234E-5 41626 0 3.18492E-5
10-96971736-G-A p.Gly286Glu missense C10orf129 1 83230 1.20149E-5 41615 0 6.60033E-5
10-96971741-T-G p.Cys288Gly missense C10orf129 21 83220 2.52343E-4 41610 0 3.50318E-4
10-96971760-T-G p.Met294Arg missense C10orf129 1 83176 1.20227E-5 41588 0 8.24701E-6
10-96971766-C-T p.Thr296Ile missense C10orf129 1 83156 1.20256E-5 41578 0 6.3678E-5
10-96971776-T-C p.Pro299Pro synonymous C10orf129 1 83126 1.20299E-5 41563 0 NA
10-96971783-G-C p.Val302Leu missense C10orf129 4 83076 4.81487E-5 41538 0 2.47472E-5
10-96971787-T-G p.Leu303Arg missense C10orf129 1 83068 1.20383E-5 41534 0 NA
10-96971787-T-C p.Leu303Pro missense C10orf129 1 83068 1.20383E-5 41534 0 NA
10-96972616-T-C p.Val305Ala missense+splice_region C10orf129 3 83062 3.61176E-5 41531 0 1.19379E-5
10-96972652-A-G p.Asn317Ser missense C10orf129 2 83120 2.40616E-5 41560 0 NA
10-96972667-A-G p.Gln322Arg missense C10orf129 1 83108 1.20325E-5 41554 0 NA
10-96972704-G-A c.*559+7G>A splice_region C10orf129 19 82804 2.29458E-4 41402 0 6.05414E-4
10-96974616-T-C p.Phe335Leu missense C10orf129 5 82170 6.08495E-5 41085 1 4.6117E-5
10-96974617-T-G p.Phe335Cys missense C10orf129 1 82164 1.21708E-5 41082 0 NA
10-96974619-A-T p.Lys336* stop_gained C10orf129 1 82174 1.21693E-5 41087 0 NA
10-96974627-G-C p.Leu338Leu synonymous C10orf129 1 82208 1.21643E-5 41104 0 NA
10-96974633-G-C p.Gln340His missense C10orf129 1 82222 1.21622E-5 41111 0 6.38521E-6
10-96974634-T-G p.Cys341Gly missense C10orf129 1 82218 1.21628E-5 41109 0 NA
10-96974647-G-A p.Gly345Glu missense C10orf129 1 82238 1.21598E-5 41119 0 3.18552E-5
10-96974657-C-A p.Ile348Ile synonymous C10orf129 2 82214 2.43268E-5 41107 0 NA
10-96974665-G-A p.Gly351Glu missense C10orf129 4 82206 4.86583E-5 41103 0 1.38033E-4
10-96974672-T-C p.Ile353Ile synonymous C10orf129 2 82188 2.43345E-5 41094 0 2.3637E-4
10-96974675-G-C p.Glu354Asp missense C10orf129 1 82164 1.21708E-5 41082 0 1.278E-5
10-96974686-G-A p.Arg358His missense C10orf129 1 82126 1.21764E-5 41063 0 NA
10-96974690-C-G p.Ile359Met missense C10orf129 2 82116 2.43558E-5 41058 0 5.75418E-5
10-96974704-T-C p.Ile364Thr missense C10orf129 1 82028 1.2191E-5 41014 0 1.27953E-5
10-96974709-G-T p.Glu366* stop_gained C10orf129 1 81966 1.22002E-5 40983 0 NA
10-96974711-A-AGG p.Tyr368fs frameshift C10orf129 1 81952 1.22023E-5 40976 0 3.18552E-5
10-96974715-T-C p.Tyr368His missense C10orf129 1 81902 1.22097E-5 40951 0 NA
10-96974716-A-G p.Tyr368Cys missense C10orf129 1 81882 1.22127E-5 40941 0 NA
10-96974725-C-T p.Thr371Met missense C10orf129 1 81738 1.22342E-5 40869 0 9.35454E-5
10-96974726-G-A p.Thr371Thr synonymous C10orf129 1 81716 1.22375E-5 40858 0 4.68999E-5
10-96979645-C-T c.*560-3C>T splice_region C10orf129 457 82840 0.00551666 41420 7 0.00598205
10-96979646-A-C c.*560-2A>C splice_acceptor C10orf129 1 82868 1.20674E-5 41434 0 NA
10-96979649-G-A p.Gly374Asp missense+splice_region C10orf129 6 82896 7.23799E-5 41448 0 6.383E-5
10-96979658-G-A p.Cys377Tyr missense C10orf129 2 82930 2.41167E-5 41465 0 NA
10-96979690-A-G p.Ser388Gly missense C10orf129 18 83010 2.16841E-4 41505 0 1.31861E-4
10-96979700-GG-AA p.Gly391Glu missense C10orf129 1 82994 1.20491E-5 41497 0 NA
10-96979701-G-A p.Gly391Gly synonymous C10orf129 3 82998 3.61454E-5 41499 0 7.96635E-4
10-96979708-T-C p.Leu394Leu synonymous C10orf129 1 82970 1.20525E-5 41485 0 NA
10-96979728-G-A p.Gln400Gln splice_region+synonymous C10orf129 1 82720 1.2089E-5 41360 0 NA
10-96979735-G-T c.*640+7G>T splice_region C10orf129 1 82620 1.21036E-5 41310 0 3.18451E-5
10-96985057-A-C p.Glu404Ala missense C10orf129 184 82670 0.00222572 41335 1 0.00410697
10-96985070-C-T p.Leu408Leu synonymous C10orf129 1 82692 1.20931E-5 41346 0 6.36862E-5
10-96985096-T-C p.Ile417Thr missense C10orf129 1 82648 1.20995E-5 41324 0 6.3631E-6
10-96985100-A-G p.Ala418Ala synonymous C10orf129 1 82636 1.21013E-5 41318 0 NA
10-96985104-C-T p.Arg420Cys missense C10orf129 9 82610 1.08946E-4 41305 0 3.25085E-4
10-96985105-G-A p.Arg420His missense C10orf129 25 82604 3.02649E-4 41302 0 3.50274E-4
10-96985127-T-C p.Ala427Ala synonymous C10orf129 1 82510 1.21197E-5 41255 0 NA
10-96985140-C-T p.Pro432Ser missense C10orf129 1 82400 1.21359E-5 41200 0 NA
10-96985142-A-C p.Pro432Pro synonymous C10orf129 3 82372 3.64201E-5 41186 0 NA
10-96988401-G-A p.Val435Met missense+splice_region C10orf129 2 82650 2.41984E-5 41325 0 NA
10-96988408-G-A p.Trp437* stop_gained C10orf129 2 82656 2.41967E-5 41328 0 NA
10-96988419-G-A p.Ala441Thr missense C10orf129 2 82676 2.41908E-5 41338 0 1.26933E-5
10-96988426-C-T p.Ala443Val missense C10orf129 1 82682 1.20945E-5 41341 0 NA
10-96988431-G-A p.Gly445Ser missense C10orf129 1 82694 1.20928E-5 41347 0 NA
10-96988436-C-A p.His446Gln missense C10orf129 2 82694 2.41856E-5 41347 0 NA
10-96988441-T-C p.Leu448Pro missense C10orf129 1 82700 1.20919E-5 41350 0 NA
10-96988467-A-G p.Met457Val missense C10orf129 1 82704 1.20913E-5 41352 0 NA
10-96988479-G-A p.Gly461Ser missense C10orf129 1 82708 1.20907E-5 41354 0 3.18431E-5
10-96988492-G-A p.Trp465* stop_gained C10orf129 2 82708 2.41815E-5 41354 0 6.35655E-6
10-96988504-T-G p.Val469Gly missense C10orf129 1 82714 1.20899E-5 41357 0 6.36837E-6
10-96988509-G-A p.Asp471Asn missense C10orf129 7 82700 8.46433E-5 41350 0 6.36902E-5
10-96988512-G-A p.Val472Ile missense C10orf129 25 82708 3.02268E-4 41354 0 0.00123457
10-96988521-G-A p.Ala475Thr missense C10orf129 3 82692 3.62792E-5 41346 0 4.63349E-5
10-96988536-T-C p.Leu480Leu synonymous C10orf129 1 82672 1.2096E-5 41336 0 6.42831E-6