Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-186330877-G-T c.-54G>T 5_prime_UTR_premature_start_codon_gain AHSG 1 81602 1.22546E-5 40801 0 6.25E-4
3-186330903-C-T c.-28C>T 5_prime_UTR_premature_start_codon_gain AHSG 5 82484 6.06178E-5 41242 0 1.16266E-5
3-186330934-A-T p.Lys2* stop_gained AHSG 15 82994 1.80736E-4 41497 0 1.11516E-4
3-186330935-A-G p.Lys2Arg missense AHSG 1 83014 1.20462E-5 41507 0 7.96464E-6
3-186330943-G-A p.Val5Ile missense AHSG 5 83126 6.01497E-5 41563 0 2.01779E-4
3-186330956-G-T p.Cys9Phe missense AHSG 2 83210 2.40356E-5 41605 0 8.31559E-6
3-186330969-C-G p.Leu13Leu synonymous AHSG 15130 82926 0.182452 41463 1532 0.243706
3-186330998-C-T p.Pro23Leu missense AHSG 1 83316 1.20025E-5 41658 0 NA
3-186331011-T-C p.Tyr27Tyr synonymous AHSG 2 83350 2.39952E-5 41675 0 1.19298E-5
3-186331020-G-A p.Pro30Pro synonymous AHSG 2 83354 2.3994E-5 41677 0 2.47296E-5
3-186331023-C-G p.Asn31Lys missense AHSG 1 83362 1.19959E-5 41681 0 3.57916E-5
3-186331026-C-T p.Cys32Cys synonymous AHSG 4 83348 4.79916E-5 41674 0 6.37633E-5
3-186331027-G-A p.Asp33Asn missense AHSG 3 83354 3.59911E-5 41677 0 6.25E-4
3-186331047-A-G p.Glu39Glu synonymous AHSG 3 83366 3.59859E-5 41683 0 3.97697E-6
3-186331070-A-G p.Tyr47Cys missense AHSG 1 83334 1.19999E-5 41667 0 NA
3-186331073-T-C p.Ile48Thr missense AHSG 2 83330 2.4001E-5 41665 0 3.97763E-6
3-186331076-A-G p.Asn49Ser missense AHSG 2 83328 2.40015E-5 41664 0 1.65218E-5
3-186331095-A-G p.Gly55Gly synonymous AHSG 1 83286 1.20068E-5 41643 0 8.3185E-6
3-186331097-A-G p.Tyr56Cys missense AHSG 5 83292 6.00298E-5 41646 0 3.18613E-5
3-186331119-T-A p.Ile63Ile synonymous AHSG 6 83128 7.21778E-5 41564 0 4.01751E-4
3-186331129-A-G p.Lys67Glu missense AHSG 26 83072 3.12982E-4 41536 0 5.09749E-4
3-186331132-G-A p.Val68Met missense AHSG 1 83026 1.20444E-5 41513 0 4.01197E-6
3-186331138-C-T p.Pro70Ser missense AHSG 7 82980 8.43577E-5 41490 0 0.0047792
3-186331138-C-A p.Pro70Thr missense AHSG 2 82980 2.41022E-5 41490 0 NA
3-186331148-G-A c.213+5G>A splice_region AHSG 1 82958 1.20543E-5 41479 0 4.09363E-6
3-186331149-T-C c.213+6T>C splice_region AHSG 2 82934 2.41156E-5 41467 0 NA
3-186333483-G-A p.Gly75Arg missense AHSG 1 83234 1.20143E-5 41617 0 3.57898E-5
3-186333484-G-T p.Gly75Val missense AHSG 1 83254 1.20114E-5 41627 0 3.97662E-6
3-186333519-A-G p.Thr87Ala missense AHSG 2 83296 2.40108E-5 41648 0 NA
3-186333524-C-G p.Thr88Thr synonymous AHSG 1 83314 1.20028E-5 41657 0 8.23832E-6
3-186333533-G-A p.Val91Val synonymous AHSG 1 83312 1.20031E-5 41656 0 NA
3-186333543-AC-A p.Pro96fs frameshift AHSG 1 83308 1.20036E-5 41654 0 NA
3-186333563-C-T p.Ser101Ser synonymous AHSG 4 83288 4.80261E-5 41644 0 5.16973E-5
3-186333564-G-A p.Val102Met missense AHSG 1 83292 1.2006E-5 41646 0 3.1835E-5
3-186333568-G-A p.Arg103Lys missense AHSG 1 83288 1.20065E-5 41644 0 7.4266E-5
3-186333572-G-A p.Gln104Gln synonymous AHSG 1 83260 1.20106E-5 41630 0 7.95406E-6
3-186333578-G-A p.Lys106Lys synonymous AHSG 2 83256 2.40223E-5 41628 0 3.97731E-6
3-186333582-C-A p.His108Asn missense+splice_region AHSG 1 83228 1.20152E-5 41614 0 NA
3-186333584-T-G p.His108Gln missense+splice_region AHSG 8 83220 9.61307E-5 41610 0 3.31735E-5
3-186333590-T-C c.324+6T>C splice_region AHSG 1 83172 1.20233E-5 41586 0 8.34516E-6
3-186334238-G-A p.Glu111Lys missense AHSG 2 82778 2.4161E-5 41389 0 4.98097E-5
3-186334270-A-T p.Leu121Leu synonymous AHSG 2 82962 2.41074E-5 41481 0 9.55536E-5
3-186334275-G-T p.Gly123Val missense AHSG 1 82960 1.2054E-5 41480 0 NA
3-186334294-C-T p.Tyr129Tyr synonymous AHSG 1 82876 1.20662E-5 41438 0 1.0841E-4
3-186334303-T-G p.Cys132Trp missense AHSG 1 82860 1.20685E-5 41430 0 NA
3-186334969-C-T c.410-4C>T splice_region AHSG 3 82554 3.63399E-5 41277 0 0.0019744
3-186334974-A-T c.410-2A>T splice_acceptor AHSG 18 82720 2.17602E-4 41360 0 2.54761E-4
3-186334974-A-C c.410-2A>C splice_acceptor AHSG 2 82718 2.41785E-5 41359 0 6.36902E-5
3-186334985-AG-A p.Asp142fs frameshift AHSG 1 82848 1.20703E-5 41424 0 NA
3-186334986-G-C p.Glu141Asp missense AHSG 1 82870 1.20671E-5 41435 0 8.48623E-6
3-186334989-C-G p.Asp142Glu missense AHSG 5 82890 6.03209E-5 41445 0 1.27389E-4
3-186334989-C-A p.Asp142Glu missense AHSG 1 82890 1.20642E-5 41445 0 NA
3-186334990-G-T p.Val143Leu missense AHSG 149 82904 0.00179726 41452 0 0.00426752
3-186334990-GT-TG p.Val143Trp missense AHSG 1 82908 1.20616E-5 41454 0 NA
3-186334996-A-AAGGTGTGCCAAGACTGC p.Pro151fs frameshift AHSG 1 82952 1.20552E-5 41476 0 NA
3-186334999-G-T p.Val146Leu missense AHSG 1 82968 1.20528E-5 41484 0 3.98819E-6
3-186335009-A-T p.Asp149Val missense AHSG 1 83026 1.20444E-5 41513 0 NA
3-186335014-C-T p.Pro151Ser missense AHSG 4 83074 4.81498E-5 41537 0 5.04032E-4
3-186335020-C-T p.Leu153Leu synonymous AHSG 1 83086 1.20357E-5 41543 0 2.47811E-5
3-186335024-C-T p.Ala154Val missense AHSG 1 83082 1.20363E-5 41541 0 1.65109E-5
3-186335025-C-G p.Ala154Ala synonymous AHSG 1 83082 1.20363E-5 41541 0 NA
3-186335034-C-T p.Asn157Asn synonymous AHSG 5 83114 6.01583E-5 41557 0 1.27397E-4
3-186335034-C-A p.Asn157Lys missense AHSG 2 83114 2.40633E-5 41557 0 3.18492E-5
3-186335038-A-C p.Thr159Pro missense AHSG 1 83134 1.20288E-5 41567 0 3.18552E-5
3-186335039-C-T p.Thr159Ile missense AHSG 2 83140 2.40558E-5 41570 0 3.97719E-6
3-186335046-G-A p.Val161Val synonymous AHSG 1 83130 1.20294E-5 41565 0 3.18532E-5
3-186335052-C-A p.His163Gln missense AHSG 1 83160 1.2025E-5 41580 0 3.18492E-5
3-186335056-G-A p.Ala165Thr missense AHSG 755 83158 0.0090791 41579 4 0.02125
3-186335057-C-T p.Ala165Val missense AHSG 9 83176 1.08204E-4 41588 0 0.0040282
3-186335065-G-T p.Ala168Ser missense AHSG 2 83202 2.40379E-5 41601 0 3.97655E-6
3-186335076-C-T p.Ala171Ala synonymous AHSG 83 83224 9.97309E-4 41612 1 0.00302115
3-186335082-C-G p.Asn173Lys missense AHSG 1 83252 1.20117E-5 41626 0 3.97643E-6
3-186335082-C-A p.Asn173Lys missense AHSG 1 83252 1.20117E-5 41626 0 NA
3-186335082-C-T p.Asn173Asn synonymous AHSG 1 83252 1.20117E-5 41626 0 NA
3-186335088-G-C p.Gln175His missense AHSG 35 83260 4.2037E-4 41630 0 0.00352467
3-186335095-G-A p.Gly178Ser missense AHSG 3 83256 3.60334E-5 41628 0 9.55536E-5
3-186335095-G-C p.Gly178Arg missense AHSG 4 83256 4.80446E-5 41628 0 4.94226E-5
3-186335097-C-G p.Gly178Gly synonymous AHSG 2 83256 2.40223E-5 41628 0 6.25E-4
3-186335102-A-G p.Asn180Ser missense AHSG 3 83240 3.60404E-5 41620 0 6.37227E-5
3-186335107-C-G p.Gln182Glu missense AHSG 13 83248 1.5616E-4 41624 0 1.9882E-5
3-186335125-C-A p.Arg188Arg synonymous AHSG 4 83252 4.80469E-5 41626 0 1.19299E-5
3-186336328-C-T p.Leu194Phe missense AHSG 1 82580 1.21095E-5 41290 0 9.55536E-5
3-186336332-C-A p.Pro195Gln missense AHSG 1 82632 1.21018E-5 41316 0 NA
3-186336344-A-C p.Tyr199Ser missense AHSG 2 82736 2.41733E-5 41368 0 3.29592E-5
3-186336344-A-G p.Tyr199Cys missense AHSG 5 82736 6.04332E-5 41368 0 9.55962E-5
3-186336354-T-C p.Phe202Phe synonymous AHSG 1 82826 1.20735E-5 41413 0 3.97662E-6
3-186336358-G-C p.Val204Leu missense AHSG 2 82826 2.4147E-5 41413 0 NA
3-186336360-G-A p.Val204Val synonymous AHSG 2 82824 2.41476E-5 41412 0 NA
3-186336365-G-T p.Gly206Val missense AHSG 1 82832 1.20726E-5 41416 0 1.64804E-5
3-186336368-C-G p.Thr207Ser missense AHSG 1 82844 1.20709E-5 41422 0 NA
3-186336380-C-T p.Ala211Val missense AHSG 3 82876 3.61987E-5 41438 0 1.98825E-5
3-186336381-T-C p.Ala211Ala synonymous AHSG 1 82866 1.20677E-5 41433 0 3.97652E-6
3-186336392-CA-C p.Glu216fs frameshift AHSG 1 82808 1.20761E-5 41404 0 3.97665E-6
3-186336403-A-T p.Lys219* stop_gained AHSG 1 82690 1.20934E-5 41345 0 3.97671E-5
3-186336405-G-C p.Lys219Asn missense AHSG 2 82682 2.41891E-5 41341 0 NA
3-186337643-C-T c.679-3C>T splice_region AHSG 30 83286 3.60205E-4 41643 1 0.0025
3-186337665-C-G p.Ala233Gly missense AHSG 5 83318 6.0011E-5 41659 0 3.18431E-5
3-186337696-G-A p.Glu243Glu synonymous AHSG 1 83322 1.20016E-5 41661 0 NA
3-186337698-T-C p.Val244Ala missense AHSG 1 83318 1.20022E-5 41659 0 2.79385E-5
3-186337713-T-C p.Met249Thr missense AHSG 57276 82046 0.698096 41023 20158 0.823263
3-186337720-C-T p.Phe251Phe synonymous AHSG 2 83298 2.40102E-5 41649 0 3.18695E-5
3-186337723-AAC-A p.Gln254fs frameshift AHSG 1 83292 1.2006E-5 41646 0 NA
3-186337735-A-T c.762+6A>T splice_region AHSG 1 83228 1.20152E-5 41614 0 NA
3-186337736-G-T c.762+7G>T splice_region AHSG 1 83208 1.20181E-5 41604 0 NA
3-186338377-C-T p.Pro255Pro splice_region+synonymous AHSG 1 83066 1.20386E-5 41533 0 5.03525E-4
3-186338378-G-A p.Val256Met missense AHSG 2 83040 2.40848E-5 41520 0 3.45507E-5
3-186338382-G-C p.Ser257Thr missense AHSG 45505 71110 0.639924 35555 14116 0.820242
3-186338390-C-G p.Pro260Ala missense AHSG 2 83124 2.40604E-5 41562 0 NA
3-186338397-C-G p.Pro262Arg missense AHSG 86 83150 0.00103428 41575 0 0.00213498
3-186338397-C-A p.Pro262Gln missense AHSG 1 83156 1.20256E-5 41578 0 6.37308E-5
3-186338401-A-G p.Glu263Glu synonymous AHSG 1 83164 1.20244E-5 41582 0 NA
3-186338407-C-A p.Ala265Ala synonymous AHSG 1 83176 1.20227E-5 41588 0 NA
3-186338419-C-T p.Val269Val synonymous AHSG 156 83212 0.00187473 41606 0 0.00229606
3-186338420-C-A p.Pro270Thr missense AHSG 1 83204 1.20187E-5 41602 0 NA
3-186338425-A-C p.Thr271Thr synonymous AHSG 59832 77330 0.773723 38665 23221 0.904834
3-186338428-C-A p.Pro272Pro synonymous AHSG 2 83196 2.40396E-5 41598 0 1.19481E-5
3-186338428-C-T p.Pro272Pro synonymous AHSG 4 83196 4.80792E-5 41598 0 4.12181E-5
3-186338429-G-A p.Val273Met missense AHSG 2 83206 2.40367E-5 41603 0 1.27535E-4
3-186338441-G-C p.Asp277His missense AHSG 1 83208 1.20181E-5 41604 0 3.97864E-6
3-186338441-G-A p.Asp277Asn missense AHSG 1 83208 1.20181E-5 41604 0 1.64867E-5
3-186338442-ATG-A p.Ala278fs frameshift AHSG 1 83206 1.20184E-5 41603 0 NA
3-186338452-G-A p.Pro280Pro synonymous AHSG 2 83198 2.4039E-5 41599 0 3.57947E-5
3-186338453-T-C p.Ser281Pro missense AHSG 3 83180 3.60664E-5 41590 0 8.24198E-6
3-186338458-T-C p.Pro282Pro synonymous AHSG 10 83190 1.20207E-4 41595 0 3.19326E-5
3-186338467-C-T p.Gly285Gly synonymous AHSG 4 83180 4.80885E-5 41590 0 6.25E-4
3-186338468-G-A p.Ala286Thr missense AHSG 1 83184 1.20215E-5 41592 0 3.29658E-5
3-186338471-C-T p.Pro287Ser missense AHSG 2 83200 2.40385E-5 41600 0 1.19313E-5
3-186338477-C-A p.Leu289Ile missense AHSG 1 83192 1.20204E-5 41596 0 NA
3-186338501-G-T p.Asp297Tyr missense AHSG 2 83194 2.40402E-5 41597 0 4.94486E-5
3-186338508-A-G p.His299Arg missense AHSG 3 83202 3.60568E-5 41601 0 1.5908E-5
3-186338525-C-T p.Pro305Ser missense AHSG 3 83122 3.60915E-5 41561 0 3.97814E-6
3-186338526-C-T p.Pro305Leu missense AHSG 1 83116 1.20314E-5 41558 0 NA
3-186338532-G-A p.Gly307Glu missense AHSG 1 83080 1.20366E-5 41540 0 1.64889E-5
3-186338534-C-T p.His308Tyr missense AHSG 2 83076 2.40743E-5 41538 0 3.29788E-5
3-186338540-T-C p.Leu310Leu synonymous AHSG 1523 83054 0.0183375 41527 12 0.0151057
3-186338542-G-A p.Leu310Leu synonymous AHSG 1 83068 1.20383E-5 41534 0 NA
3-186338546-C-T p.Arg312Trp missense AHSG 18 83056 2.16721E-4 41528 0 7.55948E-5
3-186338547-G-A p.Arg312Gln missense AHSG 1 83046 1.20415E-5 41523 0 8.2462E-6
3-186338550-C-T p.Ala313Val missense AHSG 2 83012 2.40929E-5 41506 0 4.12317E-5
3-186338551-G-A p.Ala313Ala synonymous AHSG 32 83014 3.85477E-4 41507 0 3.06375E-4
3-186338557-C-T p.Tyr315Tyr synonymous AHSG 11 82998 1.32533E-4 41499 0 6.37714E-5
3-186338564-C-T p.Arg318Cys missense AHSG 563 82888 0.0067923 41444 2 0.0107455
3-186338565-G-T p.Arg318Leu missense AHSG 1 82884 1.20651E-5 41442 0 3.98004E-6
3-186338565-G-A p.Arg318His missense AHSG 9 82884 1.08585E-4 41442 0 9.15408E-5
3-186338574-T-C p.Phe321Ser missense AHSG 1 82866 1.20677E-5 41433 0 3.97997E-6
3-186338575-C-T p.Phe321Phe synonymous AHSG 8 82852 9.65577E-5 41426 0 5.57214E-5
3-186338590-A-T p.Ser326Ser synonymous AHSG 2 82692 2.41861E-5 41346 0 NA
3-186338601-C-T p.Pro330Leu missense AHSG 1 82444 1.21294E-5 41222 0 3.98365E-6
3-186338616-C-T p.Ser335Leu missense AHSG 13 81702 1.59115E-4 40851 0 1.91131E-4
3-186338617-G-A p.Ser335Ser synonymous AHSG 3 81506 3.68071E-5 40753 0 3.18573E-5
3-186338624-C-T p.Arg338Trp missense AHSG 1 81070 1.2335E-5 40535 0 6.37105E-5
3-186338625-G-A p.Arg338Gln missense AHSG 5 80996 6.17314E-5 40498 0 6.25E-4
3-186338627-A-G p.Lys339Glu missense AHSG 2 80776 2.47598E-5 40388 0 NA
3-186338631-C-T p.Thr340Ile missense AHSG 1 80494 1.24233E-5 40247 0 NA
3-186338631-CA-C p.Arg341fs frameshift AHSG 1 80494 1.24233E-5 40247 0 NA
3-186338632-A-G p.Thr340Thr synonymous AHSG 1 80378 1.24412E-5 40189 0 NA
3-186338633-C-T p.Arg341Cys missense AHSG 4 80100 4.99376E-5 40050 0 2.24174E-4
3-186338634-G-A p.Arg341His missense AHSG 158 79938 0.00197653 39969 1 0.00453172
3-186338639-G-A p.Val343Met missense AHSG 4 79338 5.04172E-5 39669 0 1.60101E-5
3-186338652-G-A p.Ser347Asn missense AHSG 1 76948 1.29958E-5 38474 0 8.31656E-6
3-186338654-G-T p.Val348Phe missense AHSG 6 76476 7.8456E-5 38238 0 9.55353E-5
3-186338666-G-C p.Ala352Pro missense AHSG 5 73704 6.78389E-5 36852 0 9.55475E-5
3-186338668-T-A p.Ala352Ala synonymous AHSG 1 73306 1.36414E-5 36653 0 NA
3-186338669-G-A p.Gly353Arg missense AHSG 2 72962 2.74115E-5 36481 0 4.02755E-6
3-186338673-C-T p.Pro354Leu missense AHSG 1 72008 1.38873E-5 36004 0 NA
3-186338680-T-C p.Val356Val synonymous AHSG 3 70134 4.27753E-5 35067 0 9.55657E-5
3-186338681-C-A p.Pro357Thr missense AHSG 1 69872 1.43119E-5 34936 0 NA
3-186338691-C-T p.Pro360Leu missense AHSG 2 66616 3.00228E-5 33308 0 3.23926E-5
3-186338692-G-C p.Pro360Pro synonymous AHSG 3 66478 4.51277E-5 33239 0 6.37064E-5
3-186338692-G-A p.Pro360Pro synonymous AHSG 3 66478 4.51277E-5 33239 0 6.25E-4
3-186338703-G-C p.Arg364Thr missense AHSG 3 63020 4.76039E-5 31510 0 9.55475E-5