Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
3-53902752-C-T p.Val328Val synonymous ACTR8 1 83370 1.19947E-5 41685 0 1.59331E-5
3-53902754-C-G p.Val328Leu missense ACTR8 2 83374 2.39883E-5 41687 0 8.26119E-6
3-53902759-G-A p.Ala326Val missense ACTR8 2 83370 2.39894E-5 41685 0 5.03525E-4
3-53902760-C-A p.Ala326Ser missense ACTR8 3 83372 3.59833E-5 41686 0 9.55231E-5
3-53902765-C-T p.Arg324Gln missense ACTR8 1 83368 1.1995E-5 41684 0 8.24878E-6
3-53902766-G-A p.Arg324Trp missense ACTR8 2 83366 2.39906E-5 41683 0 3.58178E-5
3-53902772-G-A p.Arg322* stop_gained ACTR8 1 83370 1.19947E-5 41685 0 8.24525E-6
3-53902780-C-T p.Arg319His missense ACTR8 1 83366 1.19953E-5 41683 0 8.24307E-6
3-53902781-G-T p.Arg319Ser missense ACTR8 1 83362 1.19959E-5 41681 0 9.55597E-5
3-53902801-T-C p.Glu312Gly missense ACTR8 1 83360 1.19962E-5 41680 0 NA
3-53902802-C-G p.Glu312Gln missense ACTR8 3 83364 3.59868E-5 41682 0 NA
3-53902804-C-T p.Arg311Gln missense ACTR8 4 83358 4.79858E-5 41679 0 1.6481E-5
3-53902805-G-A p.Arg311* stop_gained ACTR8 1 83362 1.19959E-5 41681 0 2.47231E-5
3-53902823-C-A p.Glu305* stop_gained ACTR8 1 83348 1.19979E-5 41674 0 NA
3-53902836-C-T p.Leu300Leu synonymous ACTR8 1 83340 1.1999E-5 41670 0 NA
3-53902855-C-T p.Gly294Glu missense ACTR8 1 83312 1.20031E-5 41656 0 NA
3-53902860-T-C p.Lys292Lys synonymous ACTR8 1 83324 1.20013E-5 41662 0 NA
3-53902866-T-C p.Ala290Ala synonymous ACTR8 2 83322 2.40033E-5 41661 0 8.26569E-6
3-53902868-C-G p.Ala290Pro missense ACTR8 2 83310 2.40067E-5 41655 0 2.48127E-5
3-53902869-A-C p.Ile289Met missense ACTR8 3 83310 3.60101E-5 41655 0 1.65423E-5
3-53902876-C-T p.Arg287Gln missense ACTR8 1 83282 1.20074E-5 41641 0 1.19536E-5
3-53902877-G-A p.Arg287Trp missense ACTR8 2 83284 2.40142E-5 41642 0 1.59453E-5
3-53904004-C-T c.846+5G>A splice_region ACTR8 2 83246 2.40252E-5 41623 0 6.36983E-5
3-53904021-G-A p.Ile278Ile synonymous ACTR8 2 83318 2.40044E-5 41659 0 3.97769E-6
3-53904022-A-ATCG p.Val277_Ile278insThr conservative_inframe_insertion ACTR8 4 83310 4.80134E-5 41655 0 6.36902E-5
3-53904054-G-A p.Ser267Ser synonymous ACTR8 1 83350 1.19976E-5 41675 0 4.7719E-5
3-53904071-T-G p.Asn262His missense ACTR8 1 83364 1.19956E-5 41682 0 2.47117E-5
3-53904098-G-A p.Gln253* stop_gained ACTR8 2 83368 2.399E-5 41684 0 NA
3-53904107-G-C p.His250Asp missense ACTR8 1 83370 1.19947E-5 41685 0 NA
3-53904116-A-G p.Leu247Leu synonymous ACTR8 1 83366 1.19953E-5 41683 0 1.19297E-5
3-53904122-C-T p.Gly245Ser missense ACTR8 1 83366 1.19953E-5 41683 0 NA
3-53904165-G-A p.Asp230Asp synonymous ACTR8 3 83306 3.60118E-5 41653 0 5.78187E-5
3-53904169-G-A p.Ser229Phe missense ACTR8 1 83308 1.20036E-5 41654 0 NA
3-53905252-T-C c.682+7A>G splice_region ACTR8 2 83000 2.40964E-5 41500 0 1.5939E-5
3-53905257-A-T c.682+2T>A splice_donor ACTR8 2 83062 2.40784E-5 41531 0 3.1835E-5
3-53905261-C-G p.Cys227Ser missense+splice_region ACTR8 1 83096 1.20343E-5 41548 0 NA
3-53905269-T-A p.Ile224Ile synonymous ACTR8 1 83172 1.20233E-5 41586 0 NA
3-53905278-G-A p.Leu221Leu synonymous ACTR8 1 83216 1.20169E-5 41608 0 2.78483E-5
3-53905295-G-A p.Leu216Leu synonymous ACTR8 1 83288 1.20065E-5 41644 0 NA
3-53905297-C-T p.Gly215Asp missense ACTR8 1 83290 1.20062E-5 41645 0 1.27364E-4
3-53905299-C-A p.Leu214Leu synonymous ACTR8 2 83294 2.40113E-5 41647 0 NA
3-53905303-G-A p.Ala213Val missense ACTR8 1 83288 1.20065E-5 41644 0 NA
3-53905308-T-C p.Gly211Gly synonymous ACTR8 40214 81550 0.493121 40775 10323 0.556956
3-53905317-C-T p.Leu208Leu synonymous ACTR8 2 83292 2.40119E-5 41646 0 NA
3-53905320-C-T p.Ser207Ser synonymous ACTR8 2 83294 2.40113E-5 41647 0 5.03525E-4
3-53905343-T-C p.Met200Val missense ACTR8 2 83292 2.40119E-5 41646 0 3.1839E-5
3-53905346-G-A p.Leu199Leu synonymous ACTR8 1 83290 1.20062E-5 41645 0 NA
3-53905352-T-C p.Thr197Ala missense ACTR8 2 83292 2.40119E-5 41646 0 NA
3-53905352-T-G p.Thr197Pro missense ACTR8 1 83292 1.2006E-5 41646 0 NA
3-53905353-G-A p.Leu196Leu synonymous ACTR8 1 83294 1.20057E-5 41647 0 NA
3-53905359-C-T p.Glu194Glu synonymous ACTR8 3 83272 3.60265E-5 41636 0 5.03525E-4
3-53905365-G-A p.Ser192Ser synonymous ACTR8 1 83274 1.20085E-5 41637 0 7.42084E-5
3-53905370-C-G p.Asp191His missense ACTR8 1 83276 1.20083E-5 41638 0 1.64919E-5
3-53905371-G-A p.Asn190Asn synonymous ACTR8 3 83268 3.60282E-5 41634 0 1.19302E-5
3-53905371-G-T p.Asn190Lys missense ACTR8 1 83268 1.20094E-5 41634 0 NA
3-53905376-C-T p.Gly189Ser missense ACTR8 2 83260 2.40211E-5 41630 0 0.003125
3-53905386-G-A p.Gly185Gly synonymous ACTR8 1 83248 1.20123E-5 41624 0 NA
3-53905389-A-G p.Asp184Asp synonymous ACTR8 2 83246 2.40252E-5 41623 0 3.18451E-5
3-53905393-C-G p.Gly183Ala missense ACTR8 2 83258 2.40217E-5 41629 0 9.54487E-5
3-53905395-C-T p.Gln182Gln synonymous ACTR8 1 83262 1.20103E-5 41631 0 3.97709E-6
3-53905396-T-A p.Gln182Leu missense ACTR8 1 83260 1.20106E-5 41630 0 0.00100705
3-53905397-G-A p.Gln182* stop_gained ACTR8 3 83250 3.6036E-5 41625 0 7.95463E-5
3-53905403-A-T p.Ser180Thr missense ACTR8 1 83238 1.20137E-5 41619 0 3.18634E-5
3-53905404-C-A p.Gly179Gly synonymous ACTR8 2 83246 2.40252E-5 41623 0 NA
3-53905408-A-C p.Leu178Trp missense ACTR8 2 83246 2.40252E-5 41623 0 2.4766E-5
3-53905417-T-G p.Glu175Ala missense ACTR8 2 83246 2.40252E-5 41623 0 NA
3-53905428-G-A p.Leu171Leu synonymous ACTR8 2 83256 2.40223E-5 41628 0 1.27356E-4
3-53905432-CT-C p.Arg170fs frameshift ACTR8 1 83246 1.20126E-5 41623 0 NA
3-53905437-T-C p.Pro168Pro synonymous ACTR8 1 83258 1.20109E-5 41629 0 NA
3-53905440-A-G p.Leu167Leu synonymous ACTR8 1 83252 1.20117E-5 41626 0 8.26638E-6
3-53905446-A-G p.Ser165Ser synonymous ACTR8 1 83268 1.20094E-5 41634 0 NA
3-53905449-G-C p.Ser164Ser synonymous ACTR8 2 83272 2.40177E-5 41636 0 NA
3-53905458-A-G p.Arg161Arg synonymous ACTR8 97 83242 0.00116528 41621 0 6.48328E-4
3-53905459-C-T p.Arg161His missense ACTR8 2 83234 2.40286E-5 41617 0 3.18431E-5
3-53905459-C-A p.Arg161Leu missense ACTR8 1 83234 1.20143E-5 41617 0 3.18431E-5
3-53905480-A-G p.Ile154Thr missense ACTR8 93 83192 0.0011179 41596 3 0.00266233
3-53905488-G-A p.Ser151Ser synonymous ACTR8 5 83166 6.01207E-5 41583 0 5.82421E-5
3-53905500-T-C p.Arg147Arg synonymous ACTR8 2 83078 2.40738E-5 41539 0 NA
3-53905502-G-A p.Arg147* stop_gained ACTR8 1 83040 1.20424E-5 41520 0 3.1841E-5
3-53905515-T-C p.Lys142Lys synonymous ACTR8 1 82840 1.20715E-5 41420 0 2.53139E-5
3-53905525-T-TGTTCTTGTTTGCTCTGTGTGGCCAGCAGGTAATGTTCA c.418-3_418-2insTGAACATTACCTGCTGGCCACACAGAGCAAACAAGAAC splice_region ACTR8 3 82498 3.63645E-5 41249 1 NA
3-53906407-G-A c.417+4C>T splice_region ACTR8 4 83090 4.81406E-5 41545 0 8.09513E-5
3-53906409-A-G c.417+2T>C splice_donor ACTR8 1 83184 1.20215E-5 41592 0 NA
3-53906429-T-C p.Thr133Thr synonymous ACTR8 1 83360 1.19962E-5 41680 0 3.18451E-5
3-53906434-C-A p.Ala132Ser missense ACTR8 86 83358 0.00103169 41679 0 0.00957661
3-53906441-G-T p.Tyr129* stop_gained ACTR8 1 83376 1.19939E-5 41688 0 NA
3-53906452-C-T p.Asp126Asn missense ACTR8 2 83378 2.39871E-5 41689 0 8.25777E-6
3-53906453-G-A p.His125His synonymous ACTR8 5 83378 5.99679E-5 41689 0 2.47684E-5
3-53906456-A-G p.Pro124Pro synonymous ACTR8 1 83384 1.19927E-5 41692 0 8.25328E-6
3-53906461-C-T p.Asp123Asn missense ACTR8 1 83392 1.19916E-5 41696 0 1.65036E-5
3-53906466-G-C p.Pro121Arg missense ACTR8 1 83392 1.19916E-5 41696 0 4.02538E-6
3-53906469-T-C p.Asp120Gly missense ACTR8 1 83388 1.19921E-5 41694 0 8.24878E-6
3-53906470-C-A p.Asp120Tyr missense ACTR8 1 83390 1.19918E-5 41695 0 NA
3-53906471-G-A p.Gly119Gly synonymous ACTR8 7 83384 8.3949E-5 41692 0 6.84198E-5
3-53906476-G-T p.Gln118Lys missense ACTR8 1 83400 1.19904E-5 41700 0 4.12337E-5
3-53906496-G-A p.Thr111Met missense ACTR8 1 83372 1.19944E-5 41686 0 1.64924E-5
3-53906513-G-A p.Ile105Ile synonymous ACTR8 41435 82944 0.499554 41472 10910 0.554017
3-53906527-C-T p.Ala101Thr missense ACTR8 5 83360 5.99808E-5 41680 0 4.9848E-5
3-53906528-G-T p.Pro100Pro synonymous ACTR8 1 83366 1.19953E-5 41683 0 1.22162E-5
3-53906528-G-A p.Pro100Pro synonymous ACTR8 1 83366 1.19953E-5 41683 0 1.66141E-5
3-53906533-A-T p.Tyr99Asn missense ACTR8 1 83358 1.19964E-5 41679 0 4.07471E-6
3-53906536-A-G p.Phe98Leu missense ACTR8 1 83358 1.19964E-5 41679 0 1.66898E-5
3-53906540-A-G p.Ala96Ala synonymous ACTR8 1 83338 1.19993E-5 41669 0 8.37261E-6
3-53906545-T-C p.Met95Val missense ACTR8 3 83332 3.60006E-5 41666 0 4.20982E-5
3-53906548-G-A p.Pro94Ser missense ACTR8 5 83316 6.00125E-5 41658 0 6.37105E-5
3-53906551-C-A p.Ala93Ser missense+splice_region ACTR8 11 83296 1.32059E-4 41648 0 1.27397E-4
3-53906554-G-GCAGTTTTTCATCTCC c.277-4_277-3insGGAGATGAAAAACTG splice_region ACTR8 2 83252 2.40234E-5 41626 1 NA
3-53907053-A-C c.276+6T>G splice_region ACTR8 2 82776 2.41616E-5 41388 0 3.70627E-5
3-53907060-T-G p.Gln92Pro missense+splice_region ACTR8 1 82906 1.20619E-5 41453 0 2.28014E-5
3-53907062-C-T p.Leu91Leu synonymous ACTR8 1 82916 1.20604E-5 41458 0 4.47497E-5
3-53907065-T-C p.Lys90Lys synonymous ACTR8 1 82954 1.20549E-5 41477 0 6.37024E-5
3-53907071-A-T p.Asp88Glu missense ACTR8 1 83010 1.20467E-5 41505 0 NA
3-53907072-TCTC-T p.Gly87del disruptive_inframe_deletion ACTR8 1 83028 1.20441E-5 41514 0 NA
3-53907081-C-T p.Arg85Gln missense ACTR8 2 83074 2.40749E-5 41537 0 3.01689E-5
3-53907086-C-T p.Gln83Gln synonymous ACTR8 1 83120 1.20308E-5 41560 0 4.0233E-6
3-53907116-T-C p.Arg73Arg synonymous ACTR8 1 83176 1.20227E-5 41588 0 NA
3-53907118-G-C p.Arg73Gly missense ACTR8 1 83174 1.2023E-5 41587 0 3.18532E-5
3-53907168-A-G p.Phe56Ser missense ACTR8 4 82934 4.82311E-5 41467 0 8.92652E-5
3-53907169-A-T p.Phe56Ile missense ACTR8 3 82924 3.61777E-5 41462 0 1.30661E-5
3-53908244-T-C p.Leu353Leu synonymous ACTR8 4 82974 4.82079E-5 41487 0 3.18613E-5
3-53908274-C-T p.Leu343Leu synonymous ACTR8 1 83118 1.20311E-5 41559 0 8.24946E-6
3-53908288-C-A p.Asp339Tyr missense ACTR8 1 83208 1.20181E-5 41604 0 6.25E-4
3-53908291-T-C p.Met338Val missense ACTR8 2 83218 2.40333E-5 41609 0 NA
3-53908298-T-G p.Thr335Thr synonymous ACTR8 1 83274 1.20085E-5 41637 0 NA
3-53908316-G-A p.Tyr329Tyr synonymous ACTR8 2 83306 2.40079E-5 41653 0 3.97766E-6
3-53908326-C-A p.Gly326Val missense ACTR8 2 83320 2.40038E-5 41660 0 8.24022E-6
3-53908332-C-T p.Arg324Gln missense ACTR8 1 83336 1.19996E-5 41668 0 3.1837E-5
3-53908333-G-A p.Arg324* stop_gained ACTR8 1 83334 1.19999E-5 41667 0 3.18431E-5
3-53908335-T-C p.Gln323Arg missense ACTR8 3 83338 3.5998E-5 41669 0 NA
3-53908335-TGCATTAGCC-T p.Trp320_Gln323delinsTer stop_gained ACTR8 1 83338 1.19993E-5 41669 0 NA
3-53908348-A-C p.Tyr319Asp missense ACTR8 68 83338 8.15954E-4 41669 0 6.44427E-4
3-53908352-A-G p.Cys317Cys synonymous ACTR8 2 83350 2.39952E-5 41675 0 8.24063E-6
3-53908357-T-C p.Arg316Gly missense ACTR8 1 83342 1.19988E-5 41671 0 NA
3-53908360-A-C p.Ser315Ala missense ACTR8 1 83340 1.1999E-5 41670 0 NA
3-53908371-C-T p.Gly311Glu missense ACTR8 1 83312 1.20031E-5 41656 0 NA
3-53908372-C-G p.Gly311Arg missense ACTR8 1 83314 1.20028E-5 41657 0 NA
3-53908376-G-A p.Tyr309Tyr synonymous ACTR8 19 83304 2.2808E-4 41652 0 2.23001E-4
3-53908386-C-T p.Cys306Tyr missense ACTR8 3 83252 3.60352E-5 41626 0 NA
3-53908392-C-CGAG c.912-2_912-1insCTC splice_acceptor ACTR8 1 83242 1.20132E-5 41621 0 NA
3-53909971-T-C c.161+4A>G splice_region ACTR8 4 83404 4.79593E-5 41702 0 3.18492E-5
3-53909978-G-A p.Thr53Ile missense ACTR8 1 83418 1.19878E-5 41709 0 NA
3-53910015-C-T p.Val41Ile missense ACTR8 1 83420 1.19875E-5 41710 0 3.18512E-5
3-53910028-G-C p.Asp36Glu missense ACTR8 2 83412 2.39774E-5 41706 0 8.23642E-6
3-53910036-C-T p.Val34Ile missense ACTR8 1 83406 1.19895E-5 41703 0 3.29457E-5
3-53910037-G-A p.Asp33Asp synonymous ACTR8 2 83404 2.39797E-5 41702 0 5.76549E-5
3-53910049-C-T p.Thr29Thr synonymous ACTR8 1 83398 1.19907E-5 41699 0 NA
3-53910050-G-A p.Thr29Met missense ACTR8 3 83398 3.59721E-5 41699 0 8.2371E-6
3-53910050-G-C p.Thr29Arg missense ACTR8 1 83398 1.19907E-5 41699 0 7.95279E-6
3-53910071-T-C p.Tyr22Cys missense ACTR8 1 83390 1.19918E-5 41695 0 NA
3-53910073-G-C p.Thr21Thr synonymous ACTR8 2 83382 2.3986E-5 41691 0 NA
3-53910074-G-A p.Thr21Ile missense ACTR8 7 83382 8.3951E-5 41691 0 7.95342E-6
3-53910082-C-T p.Val18Val synonymous ACTR8 1 83374 1.19941E-5 41687 0 3.22248E-5
3-53910108-C-CT c.29-2_29-1insA splice_acceptor ACTR8 2 83314 2.40056E-5 41657 0 4.46947E-5
3-53910109-T-TG c.29-3_29-2insC splice_region ACTR8 7571 82188 0.0921181 41094 290 0.124849
3-53910109-T-TGG c.29-3_29-2insCC splice_region ACTR8 234 83160 0.00281385 41580 1 0.00589406
3-53910109-T-TGGGG c.29-3_29-2insCCCC splice_region ACTR8 43 83258 5.16467E-4 41629 0 0.00229193
3-53910109-T-TGGG c.29-3_29-2insCCC splice_region ACTR8 6 83286 7.20409E-5 41643 0 2.79422E-4
3-53910109-T-TA c.29-3_29-2insT splice_region ACTR8 1 83294 1.20057E-5 41647 0 NA
3-53910109-TGGGG-T c.29-6_29-3delCCCC splice_region ACTR8 1 83294 1.20057E-5 41647 0 NA
3-53910110-G-T c.29-3C>A splice_region ACTR8 10 83302 1.20045E-4 41651 0 2.18559E-4
3-53910110-G-GC c.29-4_29-3insG splice_region ACTR8 32 83300 3.84154E-4 41650 0 0.00184638
3-53910111-G-C c.29-4C>G splice_region ACTR8 24 83280 2.88184E-4 41640 0 0.0012837
3-53910111-G-A c.29-4C>T splice_region ACTR8 15 83282 1.80111E-4 41641 0 0.0012837
3-53910111-G-GT c.29-5_29-4insA splice_region ACTR8 10 83286 1.20068E-4 41643 0 8.01154E-5
3-53910111-G-T c.29-4C>A splice_region ACTR8 1 83286 1.20068E-5 41643 0 NA
3-53910111-G-GC c.29-5_29-4insG splice_region ACTR8 2 83286 2.40136E-5 41643 0 1.20173E-4
3-53910112-G-GC c.29-6_29-5insG splice_region ACTR8 92 83274 0.00110479 41637 0 0.00107914
3-53910112-G-GA c.29-6_29-5insT splice_region ACTR8 1 83274 1.20085E-5 41637 0 NA
3-53910113-G-GA c.29-7_29-6insT splice_region ACTR8 2 83278 2.40159E-5 41639 0 NA
3-53910114-G-GC c.29-8_29-7insG splice_region ACTR8 3 83274 3.60256E-5 41637 0 NA
3-53910115-G-A c.29-8C>T splice_region ACTR8 1 83274 1.20085E-5 41637 0 NA
3-53910644-T-C c.28+3A>G splice_region ACTR8 2 81642 2.44972E-5 40821 0 8.59786E-6
3-53910648-T-C p.Ser9Ser splice_region+synonymous ACTR8 1 81788 1.22267E-5 40894 0 8.55388E-6
3-53910649-G-GA p.Ser9fs frameshift ACTR8 4 81796 4.89021E-5 40898 0 9.57121E-5
3-53910693-A-G p.His244His synonymous ACTR8 1 81962 1.22008E-5 40981 0 NA
3-53910696-C-T p.Gln243Gln synonymous ACTR8 1 81956 1.22017E-5 40978 0 3.18674E-5
3-53910706-T-C p.Tyr240Cys missense ACTR8 1 81816 1.22225E-5 40908 0 3.18654E-5
3-53910726-G-T p.Ile233Ile synonymous ACTR8 139 81176 0.00171233 40588 0 0.00403226
3-53910741-C-CTT c.-66-2_-66-1insAA splice_acceptor ACTR8 1 80144 1.24775E-5 40072 0 NA
3-53910742-TA-T c.-66-3delT splice_region ACTR8 1 80078 1.24878E-5 40039 0 9.4146E-6
3-53910742-T-TTTAAATCTTTCAGTGGGATTTCCAAGTATTTTTGTATCGC c.-66-3_-66-2insGCGATACAAAAATACTTGGAAATCCCACTGAAAGATTTAA splice_region ACTR8 2 80078 2.49756E-5 40039 1 NA
3-53911255-G-A c.-81C>T 5_prime_UTR_premature_start_codon_gain ACTR8 1 83270 1.20091E-5 41635 0 NA
3-53911256-T-A p.Pro223Pro synonymous ACTR8 2 83264 2.402E-5 41632 0 4.19111E-6
3-53911280-C-T p.Ala215Ala synonymous ACTR8 2 83278 2.40159E-5 41639 0 8.28061E-5
3-53911281-G-A p.Ala215Val missense ACTR8 6 83284 7.20426E-5 41642 0 9.55718E-5
3-53911281-G-C p.Ala215Gly missense ACTR8 2 83284 2.40142E-5 41642 0 NA
3-53911287-G-A p.Ser102Phe missense+splice_region ACTR8 1 83278 1.2008E-5 41639 0 NA
3-53911292-T-C p.Ile211Met missense ACTR8 1 83288 1.20065E-5 41644 0 3.98626E-6
3-53911312-G-C p.Leu205Val missense ACTR8 1 83298 1.20051E-5 41649 0 8.2545E-6
3-53911312-G-T p.Leu205Met missense ACTR8 1 83298 1.20051E-5 41649 0 2.47635E-5
3-53911316-A-T p.Ala203Ala synonymous ACTR8 1 83302 1.20045E-5 41651 0 8.25396E-6
3-53911320-G-T p.Thr202Lys missense ACTR8 1 83298 1.20051E-5 41649 0 NA
3-53911320-G-A p.Thr202Ile missense ACTR8 1 83298 1.20051E-5 41649 0 NA
3-53911321-TAA-T p.Leu201fs frameshift ACTR8 1 83304 1.20042E-5 41652 0 NA
3-53911336-G-C p.Pro197Ala missense ACTR8 2 83312 2.40061E-5 41656 0 NA
3-53911341-G-A p.Pro195Leu missense ACTR8 1 83308 1.20036E-5 41654 0 3.98019E-6
3-53911364-T-G p.Arg187Ser missense ACTR8 10 83300 1.20048E-4 41650 0 1.35414E-4
3-53911366-T-C p.Arg187Gly missense ACTR8 1 83300 1.20048E-5 41650 0 NA
3-53911376-G-T p.His183Gln missense ACTR8 3 83300 3.60144E-5 41650 0 3.18451E-5
3-53911383-T-C p.Asn181Ser missense ACTR8 24 83294 2.88136E-4 41647 0 6.25782E-4
3-53911385-G-C p.Tyr180* stop_gained ACTR8 1 83292 1.2006E-5 41646 0 8.31297E-6
3-53911385-G-T p.Tyr180* stop_gained ACTR8 2 83292 2.40119E-5 41646 0 1.20274E-5
3-53911400-A-G p.Asn175Asn synonymous ACTR8 11 83294 1.32062E-4 41647 0 2.86533E-4
3-53911404-A-C p.Val174Gly missense ACTR8 2 83306 2.40079E-5 41653 0 4.15407E-6
3-53911414-C-A p.Ala171Ser missense+splice_region ACTR8 1 83286 1.20068E-5 41643 0 0.00100806
3-53911421-A-G c.511-7T>C splice_region ACTR8 2 83246 2.40252E-5 41623 0 2.63523E-4
3-53911670-T-C c.510+4A>G splice_region ACTR8 1 82950 1.20555E-5 41475 0 NA
3-53911678-TCTC-T p.Gly168del disruptive_inframe_deletion ACTR8 3 83066 3.61159E-5 41533 0 5.03525E-4
3-53911679-C-T p.Glu169Lys missense ACTR8 1 83076 1.20372E-5 41538 0 3.99023E-6
3-53911681-C-G p.Gly168Ala missense ACTR8 1 83088 1.20354E-5 41544 0 5.03525E-4
3-53911683-T-C p.Val167Val synonymous ACTR8 3 83098 3.6102E-5 41549 0 4.38313E-5
3-53911700-G-A p.His162Tyr missense ACTR8 1 83182 1.20218E-5 41591 0 NA
3-53911708-G-A p.Thr159Ile missense ACTR8 1 83200 1.20192E-5 41600 0 3.97766E-6
3-53911715-T-C p.Thr157Ala missense ACTR8 2 83216 2.40338E-5 41608 0 5.77405E-5
3-53911722-AT-A p.Asn154fs frameshift ACTR8 5 83252 6.00586E-5 41626 0 3.18451E-5
3-53911746-T-C p.Ala146Ala synonymous ACTR8 1 83234 1.20143E-5 41617 0 8.25805E-6
3-53911753-C-T p.Arg144Gln missense ACTR8 1 83188 1.2021E-5 41594 0 3.97791E-6
3-53911771-GAGCGTGCCTGAAAAGAAAAACCATCAGAAA-G p.Ala136fs frameshift ACTR8 7 83100 8.42359E-5 41550 0 1.99221E-5
3-53911774-C-T p.Arg137His missense ACTR8 1 82992 1.20494E-5 41496 0 3.18593E-5
3-53911775-G-A p.Arg137Cys missense ACTR8 2 83024 2.40894E-5 41512 0 1.59195E-4
3-53911776-T-A p.Ala136Ala splice_region+synonymous ACTR8 1 83030 1.20438E-5 41515 0 NA
3-53911781-G-A c.406-3C>T splice_region ACTR8 1 82970 1.20525E-5 41485 0 NA
3-53911783-A-G c.406-5T>C splice_region ACTR8 5684 82752 0.0686872 41376 408 0.104482
3-53911785-A-C c.406-7T>G splice_region ACTR8 344 82878 0.00415068 41439 2 0.02125
3-53912379-C-T c.405+5G>A splice_region ACTR8 1 82644 1.21001E-5 41322 0 6.36862E-5
3-53912380-G-A c.405+4C>T splice_region ACTR8 3654 82502 0.0442898 41251 90 0.069375
3-53912381-A-G c.405+3T>C splice_region ACTR8 1 82742 1.20858E-5 41371 0 NA
3-53912393-G-A p.Ser132Ser synonymous ACTR8 1 82886 1.20648E-5 41443 0 NA
3-53912396-C-T p.Val131Val synonymous ACTR8 624 82912 0.00752605 41456 4 0.00956697
3-53912404-T-G p.Ile129Leu missense ACTR8 1 82996 1.20488E-5 41498 0 NA
3-53912406-C-T p.Arg128His missense ACTR8 1 82988 1.20499E-5 41494 0 NA
3-53912407-G-A p.Arg128Cys missense ACTR8 1 83012 1.20465E-5 41506 0 5.03525E-4
3-53912412-G-A p.Thr126Ile missense ACTR8 3 83056 3.61202E-5 41528 0 3.1839E-5
3-53912418-T-C p.Asn124Ser missense ACTR8 13 83060 1.56513E-4 41530 0 0.00151057
3-53912433-G-A p.Ser119Phe missense ACTR8 1 83126 1.20299E-5 41563 0 3.99052E-6
3-53912440-TT-AA p.AlaIle116AlaLeu missense ACTR8 1 83104 1.20331E-5 41552 0 NA
3-53912466-T-C p.Asn108Ser missense ACTR8 1 83044 1.20418E-5 41522 0 7.57437E-5
3-53912484-C-T p.Ser102Asn missense ACTR8 1 82898 1.2063E-5 41449 0 8.23696E-6
3-53912494-T-TATTTAGTCCCTCCCTTAGGAGCCAACTGTC c.295-1_295insGACAGTTGGCTCCTAAGGGAGGGACTAAAT splice_acceptor ACTR8 1 82660 1.20978E-5 41330 0 NA
3-53912497-G-A c.295-3C>T splice_region ACTR8 1 82540 1.21153E-5 41270 0 NA
3-53912500-G-GA c.295-7_295-6insT splice_region ACTR8 1 82444 1.21294E-5 41222 0 1.64758E-5
3-53912500-G-A c.295-6C>T splice_region ACTR8 1 82444 1.21294E-5 41222 0 NA
3-53913973-C-A p.Gly96Val missense ACTR8 1 83346 1.19982E-5 41673 0 NA
3-53913974-C-T p.Gly96Arg missense ACTR8 5 83354 5.99851E-5 41677 0 9.55353E-5
3-53913975-C-G p.Glu95Asp missense ACTR8 1 83360 1.19962E-5 41680 0 NA
3-53913993-G-A p.Asp89Asp synonymous ACTR8 1 83394 1.19913E-5 41697 0 6.25E-4
3-53913994-T-G p.Asp89Ala missense ACTR8 1 83398 1.19907E-5 41699 0 NA
3-53914009-T-G p.Gln84Pro missense ACTR8 1 83410 1.1989E-5 41705 0 8.23913E-6
3-53914013-CTTG-C p.Gln82del conservative_inframe_deletion ACTR8 1 83414 1.19884E-5 41707 0 3.1839E-5
3-53914017-T-C p.Gln81Gln synonymous ACTR8 1 83412 1.19887E-5 41706 0 4.94258E-5
3-53914017-T-G p.Gln81His missense ACTR8 1 83412 1.19887E-5 41706 0 NA
3-53914031-G-T p.Arg77Arg synonymous ACTR8 4 83408 4.7957E-5 41704 0 1.9882E-5
3-53914033-G-A p.Ala76Val missense ACTR8 2 83412 2.39774E-5 41706 0 7.95254E-6
3-53914040-C-T p.Val74Ile missense ACTR8 7 83412 8.39208E-5 41706 0 6.25E-4
3-53914044-AG-A p.Pro72fs frameshift ACTR8 2 83410 2.39779E-5 41705 0 NA
3-53914055-C-A p.Ala69Ser missense ACTR8 6 83414 7.19304E-5 41707 0 6.25E-4
3-53914082-T-A p.Ile60Phe missense ACTR8 2 83402 2.39802E-5 41701 0 8.24266E-6
3-53914091-T-C p.Thr57Ala missense ACTR8 1 83390 1.19918E-5 41695 0 3.97753E-6
3-53914093-G-A p.Thr56Ile missense ACTR8 5276 83292 0.0633434 41646 322 0.086232
3-53914095-T-C p.Ser55Ser synonymous ACTR8 1 83400 1.19904E-5 41700 0 1.2734E-4
3-53914123-T-C p.Asn46Ser missense ACTR8 1 83382 1.1993E-5 41691 0 NA
3-53914130-G-A p.Gln44* stop_gained ACTR8 1 83362 1.19959E-5 41681 0 NA
3-53914131-G-C p.Ile43Met missense ACTR8 1 83358 1.19964E-5 41679 0 NA
3-53914137-C-CTCT c.124-2_124-1insAGA splice_acceptor ACTR8 4 83338 4.79973E-5 41669 2 NA
3-53914138-T-TCTTGCAGCGACTCCGGCACCAGCGCGGGCACGATGGGCCGCTTCAC c.124-3_124-2insGTGAAGCGGCCCATCGTGCCCGCGCTGGTGCCGGAGTCGCTGCAAG splice_region ACTR8 2 83338 2.39987E-5 41669 1 NA
3-53914138-T-TCTTGCAGCGACTCCGGCACCAGCGCGGGCACGATGGGCCGCTTCACGCCGC c.124-3_124-2insGCGGCGTGAAGCGGCCCATCGTGCCCGCGCTGGTGCCGGAGTCGCTGCAAG splice_region ACTR8 2 83338 2.39987E-5 41669 1 NA
3-53915692-C-T c.-174+1G>A splice_donor ACTR8 5 14532 3.44068E-4 7266 0 7.00592E-4
3-53915748-C-T c.-229G>A 5_prime_UTR_premature_start_codon_gain ACTR8 15 22676 6.61492E-4 11338 0 3.18451E-5
3-53915857-C-G c.-375G>C 5_prime_UTR_premature_start_codon_gain ACTR8 1 60526 1.65218E-5 30263 0 NA
3-53915860-G-A c.-378C>T 5_prime_UTR_premature_start_codon_gain ACTR8 1 61242 1.63287E-5 30621 0 3.42278E-5
3-53916002-G-A c.123+4C>T splice_region ACTR8 3 77702 3.8609E-5 38851 0 3.18532E-5
3-53916006-C-T p.Glu41Glu splice_region+synonymous ACTR8 1 77788 1.28555E-5 38894 0 NA
3-53916012-C-G p.Leu39Leu synonymous ACTR8 7 77812 8.99604E-5 38906 0 4.68779E-5
3-53916021-C-G p.Pro36Pro synonymous ACTR8 1 77918 1.2834E-5 38959 0 3.19906E-5
3-53916022-G-A p.Pro36Leu missense ACTR8 1 77900 1.2837E-5 38950 0 3.18593E-5
3-53916022-G-C p.Pro36Arg missense ACTR8 2 77900 2.56739E-5 38950 0 3.18593E-5
3-53916033-G-A p.Pro32Pro synonymous ACTR8 1 77918 1.2834E-5 38959 0 6.44446E-6
3-53916034-G-A p.Pro32Leu missense ACTR8 1 77922 1.28333E-5 38961 0 NA
3-53916044-G-A p.Pro29Ser missense ACTR8 1 77948 1.28291E-5 38974 0 NA
3-53916045-C-T p.Arg28Arg synonymous ACTR8 2 77946 2.56588E-5 38973 0 1.29314E-5
3-53916048-C-T p.Lys27Lys synonymous ACTR8 1 77986 1.28228E-5 38993 0 9.52925E-5
3-53916063-C-T p.Glu22Glu synonymous ACTR8 1 78082 1.2807E-5 39041 0 6.45995E-5
3-53916078-G-A p.Gly17Gly synonymous ACTR8 408 78034 0.00522849 39017 5 0.0058951
3-53916081-G-A p.Gly16Gly synonymous ACTR8 1760 78020 0.0225583 39010 123 0.044797
3-53916087-C-G p.Glu14Asp missense ACTR8 2 78148 2.55925E-5 39074 0 6.44962E-6
3-53916094-C-G p.Gly12Ala missense ACTR8 1 78122 1.28005E-5 39061 0 NA
3-53916098-T-A p.Asn11Tyr missense ACTR8 1 78076 1.2808E-5 39038 0 3.18654E-5
3-53916099-C-T p.Glu10Glu synonymous ACTR8 1 78112 1.28021E-5 39056 0 3.18552E-5
3-53916102-C-T p.Thr9Thr synonymous ACTR8 54 78086 6.91545E-4 39043 0 0.00162462
3-53916103-G-A p.Thr9Met missense ACTR8 3 78074 3.84251E-5 39037 0 1.42005E-4
3-53916103-G-GT p.Thr9fs frameshift ACTR8 1 78074 1.28084E-5 39037 0 NA
3-53916126-CATT-C p.Met1del start_lost ACTR8 1 78000 1.28205E-5 39000 0 6.43948E-6
3-53916128-T-C p.Met1? start_lost ACTR8 1 77990 1.28222E-5 38995 0 6.43956E-6
3-53916147-C-A c.-19G>T 5_prime_UTR_premature_start_codon_gain ACTR8 614 77666 0.00790565 38833 13 0.0183475
3-53916147-C-T c.-19G>A 5_prime_UTR_premature_start_codon_gain ACTR8 2 77682 2.5746E-5 38841 0 6.47065E-6
3-53916147-C-G c.-19G>C 5_prime_UTR_premature_start_codon_gain ACTR8 2 77682 2.5746E-5 38841 0 6.47065E-6
3-53916150-A-G c.-22T>C 5_prime_UTR_premature_start_codon_gain ACTR8 1 77580 1.28899E-5 38790 0 3.20287E-5
3-53916171-G-A c.-43C>T 5_prime_UTR_premature_start_codon_gain ACTR8 5 77276 6.47031E-5 38638 0 1.54067E-4
3-53916183-G-A c.-55C>T 5_prime_UTR_premature_start_codon_gain ACTR8 3 76970 3.89762E-5 38485 0 0.001875
3-53916185-G-C c.-57C>G 5_prime_UTR_premature_start_codon_gain ACTR8 9 76966 1.16935E-4 38483 0 8.92061E-4
3-53916227-G-A c.-99C>T 5_prime_UTR_premature_start_codon_gain ACTR8 1 74802 1.33686E-5 37401 0 NA