Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-159174123-C-T c.-627C>T 5_prime_UTR_premature_start_codon_gain DARC 30 170 0.176471 85 2 0.126953
1-159174498-C-G c.-252C>G 5_prime_UTR_premature_start_codon_gain DARC 1 55106 1.81468E-5 27553 0 NA
1-159174594-T-C c.-156T>C 5_prime_UTR_premature_start_codon_gain DARC 1 77122 1.29665E-5 38561 0 NA
1-159174605-G-A c.-145G>A 5_prime_UTR_premature_start_codon_gain DARC 488 77988 0.00625737 38994 1 0.0028353
1-159174611-G-A c.-139G>A 5_prime_UTR_premature_start_codon_gain DARC 13 78438 1.65736E-4 39219 0 1.59266E-4
1-159174629-A-T c.-121A>T 5_prime_UTR_premature_start_codon_gain DARC 1 80720 1.23885E-5 40360 0 3.1902E-5
1-159174708-C-T c.-42C>T 5_prime_UTR_premature_start_codon_gain DARC 8 83216 9.61354E-5 41608 0 1.07121E-4
1-159174733-C-T c.-17C>T 5_prime_UTR_premature_start_codon_gain DARC 2 83288 2.40131E-5 41644 0 NA
1-159174743-C-T c.-7C>T 5_prime_UTR_premature_start_codon_gain DARC 1 83286 1.20068E-5 41643 0 8.24661E-6
1-159174754-G-C p.Gly2Ala missense DARC 1 83298 1.20051E-5 41649 0 NA
1-159174755-G-A p.Gly2Gly synonymous DARC 1 83302 1.20045E-5 41651 0 8.25164E-6
1-159174774-A-G c.21+4A>G splice_region DARC 1 83284 1.20071E-5 41642 0 NA
1-159175193-A-G c.-23-8A>G splice_region DARC 9696 81584 0.118847 40792 532 0.111584
1-159175210-C-G c.-14C>G 5_prime_UTR_premature_start_codon_gain DARC 1 82730 1.20875E-5 41365 0 9.12692E-6
1-159175211-C-T c.-13C>T 5_prime_UTR_premature_start_codon_gain DARC 3 82738 3.6259E-5 41369 0 9.55292E-5
1-159175234-C-G p.Ser4Cys missense DARC 2 83142 2.40552E-5 41571 0 4.23356E-6
1-159175235-TG-T p.Tyr6fs frameshift DARC 2 83148 2.40535E-5 41574 0 NA
1-159175237-G-A p.Gly5Glu missense DARC 2 83174 2.4046E-5 41587 0 3.18593E-5
1-159175247-C-T c.22-4C>T splice_region DARC 1 83258 1.20109E-5 41629 0 4.11933E-6
1-159175252-C-T p.Ala8Val missense+splice_region DARC 6 83290 7.20375E-5 41645 0 3.18492E-5
1-159175253-G-A p.Ala8Ala splice_region+synonymous DARC 1 83290 1.20062E-5 41645 0 9.55657E-5
1-159175260-T-A p.Ser13Thr missense DARC 1 83310 1.20034E-5 41655 0 NA
1-159175265-C-G p.Pro14Pro synonymous DARC 2 83334 2.39998E-5 41667 0 6.36943E-5
1-159175265-C-A p.Pro14Pro synonymous DARC 1 83334 1.19999E-5 41667 0 NA
1-159175268-A-G p.Ser15Ser synonymous DARC 2 83336 2.39992E-5 41668 0 NA
1-159175273-A-G p.Glu17Gly missense DARC 3 83350 3.59928E-5 41675 0 NA
1-159175295-C-T p.Phe24Phe synonymous DARC 2 83358 2.39929E-5 41679 0 6.25E-4
1-159175303-T-A p.Val27Glu missense DARC 6 83356 7.19804E-5 41678 0 7.95589E-6
1-159175312-C-A p.Ser30Tyr missense DARC 1 83354 1.1997E-5 41677 0 3.18512E-5
1-159175318-A-G p.Tyr32Cys missense DARC 1 83342 1.19988E-5 41671 0 NA
1-159175345-G-A p.Gly41Glu missense DARC 2 83272 2.40177E-5 41636 0 3.29587E-5
1-159175350-T-C p.Tyr43His missense DARC 1 83258 1.20109E-5 41629 0 3.97716E-6
1-159175354-G-A p.Gly44Asp missense DARC 48842 81432 0.599789 40716 15437 0.686304
1-159175358-C-CTTTTCCTTCT p.Asn46fs frameshift DARC 1 83206 1.20184E-5 41603 0 NA
1-159175368-G-A p.Ala49Thr missense DARC 2 83148 2.40535E-5 41574 0 1.59146E-5
1-159175372-C-T p.Ala50Val missense DARC 1 83112 1.2032E-5 41556 0 1.19376E-5
1-159175374-G-T p.Ala51Ser missense DARC 6 83072 7.22265E-5 41536 0 7.95862E-6
1-159175375-C-T p.Ala51Val missense DARC 1 83096 1.20343E-5 41548 0 5.03525E-4
1-159175376-C-A p.Ala51Ala synonymous DARC 4 83096 4.81371E-5 41548 0 4.77426E-5
1-159175381-G-A p.Cys53Tyr missense DARC 1 83056 1.20401E-5 41528 0 NA
1-159175385-C-T p.His54His synonymous DARC 3 83044 3.61254E-5 41522 0 1.64796E-5
1-159175404-G-A p.Asp61Asn missense DARC 2 82904 2.41243E-5 41452 0 1.99046E-5
1-159175405-ACT-A p.Ser62fs frameshift DARC 2 82892 2.41278E-5 41446 0 0.0020141
1-159175410-G-A p.Ala63Thr missense DARC 1 82850 1.207E-5 41425 0 NA
1-159175417-CCTT-C p.Phe67del conservative_inframe_deletion DARC 2 82776 2.41616E-5 41388 0 3.1837E-5
1-159175421-C-A p.Phe66Leu missense DARC 2 82736 2.41733E-5 41368 0 NA
1-159175424-C-T p.Phe67Phe synonymous DARC 1 82714 1.20899E-5 41357 0 3.1839E-5
1-159175427-C-G p.Ile68Met missense DARC 1 82670 1.20963E-5 41335 0 NA
1-159175428-C-T p.Leu69Phe missense DARC 304 82660 0.00367772 41330 12 0.0120148
1-159175431-A-T p.Thr70Ser missense DARC 1 82628 1.21024E-5 41314 0 NA
1-159175433-C-T p.Thr70Thr synonymous DARC 2 82640 2.42014E-5 41320 0 8.24239E-6
1-159175440-C-A p.Leu73Met missense DARC 1 82508 1.212E-5 41254 0 NA
1-159175443-G-A p.Gly74Ser missense DARC 1 82466 1.21262E-5 41233 0 NA
1-159175449-C-T p.Leu76Leu synonymous DARC 1 82388 1.21377E-5 41194 0 5.57764E-5
1-159175458-A-G p.Ser79Gly missense DARC 1 82198 1.21657E-5 41099 0 8.24171E-6
1-159175465-T-C p.Val81Ala missense DARC 1 82038 1.21895E-5 41019 0 1.64832E-5
1-159175481-C-T p.Phe86Phe synonymous DARC 1 81790 1.22264E-5 40895 0 NA
1-159175485-C-A p.Pro88Thr missense DARC 1 81700 1.22399E-5 40850 0 3.98718E-6
1-159175485-C-T p.Pro88Ser missense DARC 3 81700 3.67197E-5 40850 0 2.79102E-5
1-159175487-T-C p.Pro88Pro synonymous DARC 3 81640 3.67467E-5 40820 0 3.18695E-5
1-159175493-C-A p.Phe90Leu missense DARC 4 81572 4.90364E-5 40786 0 6.37064E-5
1-159175494-C-T p.Arg91Cys missense DARC 1138 81504 0.0139625 40752 12 0.023125
1-159175495-G-A p.Arg91His missense DARC 6 81440 7.36739E-5 40720 0 9.89152E-5
1-159175505-C-T p.Leu94Leu synonymous DARC 1 81554 1.22618E-5 40777 0 1.64856E-5
1-159175510-C-T p.Pro96Leu missense DARC 1 81554 1.22618E-5 40777 0 8.24321E-6
1-159175513-G-A p.Gly97Asp missense DARC 1 81498 1.22702E-5 40749 0 NA
1-159175517-G-C p.Trp98Cys missense DARC 1 81502 1.22696E-5 40751 0 8.24402E-6
1-159175527-G-A p.Ala102Thr missense DARC 9793 81320 0.120425 40660 761 0.126688
1-159175528-C-T p.Ala102Val missense DARC 3 81682 3.67278E-5 40841 0 2.47329E-5
1-159175528-C-A p.Ala102Glu missense DARC 2 81682 2.44852E-5 40841 0 3.98464E-6
1-159175538-T-A p.Ala105Ala synonymous DARC 8 81864 9.77231E-5 40932 0 6.3674E-5
1-159175540-T-C p.Val106Ala missense DARC 29 81850 3.54307E-4 40925 0 3.1835E-5
1-159175543-G-A p.Gly107Asp missense DARC 11 81822 1.34438E-4 40911 0 5.03525E-4
1-159175548-G-A p.Ala109Thr missense DARC 2 81942 2.44075E-5 40971 0 1.59363E-5
1-159175553-C-T p.Leu110Leu synonymous DARC 1 82096 1.21809E-5 41048 0 8.24756E-6
1-159175569-C-T p.Pro116Ser missense DARC 1 82200 1.21655E-5 41100 0 NA
1-159175572-G-A p.Val117Ile missense DARC 1 82264 1.2156E-5 41132 0 1.99235E-5
1-159175572-G-T p.Val117Phe missense DARC 1 82266 1.21557E-5 41133 0 1.59388E-5
1-159175580-C-T p.Ala119Ala synonymous DARC 2 82352 2.4286E-5 41176 0 NA
1-159175586-G-A p.Gly121Gly synonymous DARC 7 82376 8.49762E-5 41188 0 3.18431E-5
1-159175597-C-T p.Thr125Ile missense DARC 2 82454 2.42559E-5 41227 0 6.3674E-5
1-159175599-C-T p.Arg126Cys missense DARC 1 82456 1.21277E-5 41228 0 3.18451E-5
1-159175600-G-T p.Arg126Leu missense DARC 6 82420 7.27979E-5 41210 0 5.78512E-5
1-159175600-G-A p.Arg126His missense DARC 1 82420 1.2133E-5 41210 0 3.1837E-5
1-159175606-C-T p.Ser128Phe missense DARC 1 82482 1.21239E-5 41241 0 8.26446E-5
1-159175608-G-T p.Ala129Ser missense DARC 3 82460 3.63813E-5 41230 0 2.48024E-5
1-159175613-G-T p.Leu130Leu synonymous DARC 5 82504 6.06031E-5 41252 0 5.78799E-5
1-159175620-C-T p.Leu133Leu synonymous DARC 1 82548 1.21142E-5 41274 0 NA
1-159175624-G-A p.Gly134Asp missense DARC 4 82476 4.8499E-5 41238 0 9.10219E-5
1-159175636-G-A p.Trp138* stop_gained DARC 1 82466 1.21262E-5 41233 0 6.25E-4
1-159175657-A-G p.Gln145Arg missense DARC 3 82420 3.63989E-5 41210 0 NA
1-159175684-C-T p.Ser154Phe missense DARC 91 82228 0.00110668 41114 2 0.009375
1-159175684-C-A p.Ser154Tyr missense DARC 5 82232 6.08036E-5 41116 0 2.49256E-4
1-159175711-A-G p.Gln163Arg missense DARC 7 82146 8.52141E-5 41073 0 0.00100806
1-159175727-C-T p.Thr168Thr synonymous DARC 6 82204 7.29891E-5 41102 0 4.15186E-5
1-159175731-G-A p.Gly170Arg missense DARC 1 82228 1.21613E-5 41114 0 NA
1-159175737-A-G p.Thr172Ala missense DARC 1 82294 1.21516E-5 41147 0 3.98584E-6
1-159175750-G-T p.Trp176Leu missense DARC 3 82470 3.63769E-5 41235 0 1.0785E-4
1-159175754-A-G p.Gly177Gly synonymous DARC 1 82446 1.21292E-5 41223 0 NA
1-159175758-G-T p.Ala179Ser missense DARC 1 82474 1.2125E-5 41237 0 3.99074E-6
1-159175764-C-G p.Leu181Val missense DARC 1 82540 1.21153E-5 41270 0 3.98944E-6
1-159175767-C-T p.Leu182Leu synonymous DARC 1 82554 1.21133E-5 41277 0 NA
1-159175772-A-C p.Thr183Thr synonymous DARC 1 82618 1.21039E-5 41309 0 NA
1-159175773-C-T p.Leu184Leu synonymous DARC 2 82636 2.42025E-5 41318 0 NA
1-159175783-C-T p.Thr187Ile missense DARC 1 82768 1.2082E-5 41384 0 NA
1-159175784-C-T p.Thr187Thr synonymous DARC 1 82774 1.20811E-5 41387 0 NA
1-159175792-G-A p.Ser190Asn missense DARC 1 82810 1.20758E-5 41405 0 1.1944E-5
1-159175802-T-C p.Ser193Ser synonymous DARC 1 82908 1.20616E-5 41454 0 NA
1-159175803-G-T p.Gly194Cys missense DARC 2 82902 2.41249E-5 41451 0 NA
1-159175809-C-A p.Leu196Ile missense DARC 1 82952 1.20552E-5 41476 0 NA
1-159175811-C-G p.Leu196Leu synonymous DARC 5 82940 6.02845E-5 41470 0 1.65473E-5
1-159175817-C-T p.Thr198Thr synonymous DARC 1 82988 1.20499E-5 41494 0 NA
1-159175823-A-G p.Ile200Met missense DARC 1 83022 1.2045E-5 41511 0 8.26269E-6
1-159175831-C-T p.Thr203Met missense DARC 3 83072 3.61133E-5 41536 0 1.59307E-4
1-159175832-G-A p.Thr203Thr synonymous DARC 8 83080 9.62927E-5 41540 0 6.25E-4
1-159175854-A-G p.Thr211Ala missense DARC 1 83184 1.20215E-5 41592 0 6.37146E-5
1-159175859-C-T p.His212His synonymous DARC 4 83198 4.80781E-5 41599 0 3.18471E-5
1-159175880-C-A p.Ile219Ile synonymous DARC 1 83256 1.20111E-5 41628 0 NA
1-159175884-G-A p.Val221Ile missense DARC 13 83260 1.56137E-4 41630 0 3.5043E-4
1-159175888-T-G p.Leu222Trp missense DARC 1 83270 1.20091E-5 41635 0 6.37064E-5
1-159175889-G-T p.Leu222Phe missense DARC 1 83260 1.20106E-5 41630 0 1.64769E-5
1-159175893-C-T p.Pro224Ser missense DARC 1 83248 1.20123E-5 41624 0 NA
1-159175895-A-G p.Pro224Pro synonymous DARC 1 83262 1.20103E-5 41631 0 8.23818E-6
1-159175896-T-C p.Leu225Leu synonymous DARC 2 83254 2.40229E-5 41627 0 1.19295E-5
1-159175898-G-C p.Leu225Phe missense DARC 1 83256 1.20111E-5 41628 0 3.18471E-5
1-159175900-G-T p.Gly226Val missense DARC 6 83250 7.20721E-5 41625 0 3.97652E-6
1-159175904-G-A p.Leu227Leu synonymous DARC 1 83256 1.20111E-5 41628 0 1.64753E-5
1-159175907-T-C p.Phe228Phe synonymous DARC 1 83262 1.20103E-5 41631 0 NA
1-159175909-G-A p.Gly229Glu missense DARC 1 83248 1.20123E-5 41624 0 0.00125
1-159175916-G-A p.Lys231Lys synonymous DARC 1 83240 1.20135E-5 41620 0 NA
1-159175931-A-G p.Ala236Ala synonymous DARC 1 83256 1.20111E-5 41628 0 NA
1-159175934-G-C p.Leu237Phe missense DARC 2 83278 2.40159E-5 41639 0 7.95311E-6
1-159175937-T-C p.Gly238Gly synonymous DARC 8 83280 9.60615E-5 41640 0 8.2371E-5
1-159175943-G-A p.Gly240Gly synonymous DARC 739 83258 0.00887602 41629 7 0.00534851
1-159175946-AG-A p.Gly242fs frameshift DARC 1 83284 1.20071E-5 41642 0 NA
1-159175950-C-A p.Pro243Thr missense DARC 3 83298 3.60153E-5 41649 0 3.97659E-6
1-159175958-G-A p.Met245Ile missense DARC 3 83318 3.60066E-5 41659 0 6.37349E-5
1-159175964-C-T p.Ile247Ile synonymous DARC 3 83334 3.59997E-5 41667 0 6.37471E-5
1-159175965-C-T p.Leu248Leu synonymous DARC 1 83336 1.19996E-5 41668 0 3.97674E-6
1-159175971-G-T p.Ala250Ser missense DARC 1 83338 1.19993E-5 41669 0 NA
1-159175988-G-A p.Trp255* stop_gained DARC 1 83366 1.19953E-5 41683 0 8.23832E-6
1-159175991-G-C p.Trp256Cys missense DARC 4 83378 4.79743E-5 41689 0 9.56023E-5
1-159175991-G-A p.Trp256* stop_gained DARC 1 83378 1.19936E-5 41689 0 NA
1-159175996-A-G p.His258Arg missense DARC 1 83382 1.1993E-5 41691 0 NA
1-159176023-T-G p.Leu267Arg missense DARC 1 83374 1.19941E-5 41687 0 NA
1-159176024-G-A p.Leu267Leu synonymous DARC 1 83378 1.19936E-5 41689 0 2.38582E-5
1-159176030-G-A p.Arg269Arg synonymous DARC 1 83364 1.19956E-5 41682 0 1.64747E-5
1-159176039-G-A p.Leu272Leu synonymous DARC 2 83364 2.39912E-5 41682 0 3.97627E-6
1-159176056-G-C p.Cys278Ser missense DARC 1 83336 1.19996E-5 41668 0 NA
1-159176061-G-A p.Ala280Thr missense DARC 1 83328 1.20008E-5 41664 0 6.37186E-5
1-159176090-C-G p.Asn289Lys missense DARC 2 83284 2.40142E-5 41642 0 6.37308E-5
1-159176094-G-A p.Ala291Thr missense DARC 1 83272 1.20088E-5 41636 0 NA
1-159176105-G-A p.Leu294Leu synonymous DARC 1 83276 1.20083E-5 41638 0 NA
1-159176106-G-A p.Ala295Thr missense DARC 2 83272 2.40177E-5 41636 0 6.37186E-5
1-159176110-T-C p.Ile296Thr missense DARC 2 83276 2.40165E-5 41638 0 NA
1-159176124-G-A p.Ala301Thr missense DARC 3 83262 3.60308E-5 41631 0 2.47121E-5
1-159176128-C-T p.Thr302Met missense DARC 4 83252 4.80469E-5 41626 0 3.5791E-5
1-159176129-G-A p.Thr302Thr synonymous DARC 5 83250 6.00601E-5 41625 0 1.07089E-4
1-159176138-C-T p.Leu305Leu synonymous DARC 1 83314 1.20028E-5 41657 0 3.97697E-6
1-159176147-A-G p.Leu308Leu synonymous DARC 1 83330 1.20005E-5 41665 0 NA
1-159176165-C-A p.Thr314Thr synonymous DARC 1 83352 1.19973E-5 41676 0 1.67173E-4
1-159176166-C-T p.Arg315Cys missense DARC 4 83350 4.79904E-5 41675 0 5.03525E-4
1-159176167-G-T p.Arg315Leu missense DARC 1 83348 1.19979E-5 41674 0 1.65027E-5
1-159176171-C-T p.Thr316Thr synonymous DARC 1 83360 1.19962E-5 41680 0 0.00100705
1-159176174-C-T p.Leu317Leu synonymous DARC 1 83360 1.19962E-5 41680 0 NA
1-159176182-C-G p.Ser320Cys missense DARC 1 83370 1.19947E-5 41685 0 8.26487E-6
1-159176184-C-G p.Leu321Val missense DARC 1 83368 1.1995E-5 41684 0 6.3674E-5
1-159176187-C-T p.Pro322Ser missense DARC 1 83370 1.19947E-5 41685 0 1.99518E-5
1-159176203-G-A p.Trp327* stop_gained DARC 2 83370 2.39894E-5 41685 0 1.19991E-5
1-159176203-G-T p.Trp327Leu missense DARC 1 83370 1.19947E-5 41685 0 NA
1-159176205-T-G p.Ser328Ala missense DARC 5 83374 5.99707E-5 41687 0 6.80098E-5
1-159176206-C-T p.Ser328Phe missense DARC 209 83372 0.00250684 41686 0 0.00311983
1-159176220-A-T p.Thr333Ser missense DARC 1 83342 1.19988E-5 41671 0 NA
1-159176221-C-G p.Thr333Ser missense DARC 1 83330 1.20005E-5 41665 0 4.019E-6
1-159176239-A-G p.Ter339Trpext*? stop_lost DARC 1 83288 1.20065E-5 41644 0 1.21714E-5