Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-19809541-C-T p.Ter663Ter stop_retained AKAP10 1 82664 1.20972E-5 41332 0 NA
17-19809550-AAAAAG-A c.1984-10_1984-6delCTTTT splice_region AKAP10 12 82646 1.45198E-4 41323 0 5.29376E-5
17-19812512-C-T p.Pro655Pro synonymous AKAP10 2 83112 2.40639E-5 41556 0 1.6015E-5
17-19812514-G-T p.Pro655Thr missense AKAP10 3 83132 3.60872E-5 41566 0 3.29745E-5
17-19812517-G-T p.Gln654Lys missense AKAP10 10 83146 1.2027E-4 41573 0 NA
17-19812523-A-G p.Tyr652His missense AKAP10 1 83136 1.20285E-5 41568 0 8.24198E-6
17-19812533-C-T p.Gln648Gln synonymous AKAP10 1 83128 1.20296E-5 41564 0 1.64834E-5
17-19812533-C-A p.Gln648His missense AKAP10 1 83128 1.20296E-5 41564 0 NA
17-19812537-A-G p.Met647Thr missense AKAP10 1 83128 1.20296E-5 41564 0 1.19504E-5
17-19812541-T-C p.Ile646Val missense AKAP10 32873 82602 0.397969 41301 6864 0.427923
17-19812541-TG-CA p.AspIle645AspVal missense AKAP10 1 83124 1.20302E-5 41562 0 NA
17-19812542-G-A p.Asp645Asp synonymous AKAP10 2 83114 2.40633E-5 41557 0 2.39177E-5
17-19812566-C-G p.Lys637Asn missense AKAP10 1 83036 1.2043E-5 41518 0 NA
17-19812578-C-A p.Glu633Asp missense AKAP10 1 82960 1.2054E-5 41480 0 NA
17-19812581-T-C p.Glu632Glu synonymous AKAP10 2 82926 2.41179E-5 41463 0 NA
17-19813232-G-A c.1887+7C>T splice_region AKAP10 1 82492 1.21224E-5 41246 0 NA
17-19813259-C-T p.Val623Met missense AKAP10 4 82686 4.83758E-5 41343 0 8.27404E-6
17-19813271-T-C p.Met619Val missense AKAP10 1 82698 1.20922E-5 41349 0 3.18431E-5
17-19813289-A-T p.Ser613Thr missense+splice_region AKAP10 4 82554 4.84531E-5 41277 0 8.28761E-6
17-19813293-T-TTTTGATTTCCTTACATCAGGTTCAGGCTCAGATTCTCGGATGAATTGCCCCA c.1835-3_1835-2insTGGGGCAATTCATCCGAGAATCTGAGCCTGAACCTGATGTAAGGAAATCAAA splice_region AKAP10 1 82520 1.21183E-5 41260 0 NA
17-19813293-T-TTTTGATTTCCTTACATCAGGTTCAGGCTCAGATTCTCGG c.1835-3_1835-2insCCGAGAATCTGAGCCTGAACCTGATGTAAGGAAATCAAA splice_region AKAP10 1 82520 1.21183E-5 41260 0 NA
17-19823352-T-C p.Lys611Glu missense AKAP10 1 82034 1.21901E-5 41017 0 NA
17-19823364-C-T p.Val607Ile missense AKAP10 1 82208 1.21643E-5 41104 0 3.98226E-6
17-19823409-T-C p.Ser592Gly missense AKAP10 1 82238 1.21598E-5 41119 0 NA
17-19823414-C-T p.Arg590Lys missense AKAP10 6 82176 7.3014E-5 41088 0 2.22873E-4
17-19827723-G-A p.Ala583Ala splice_region+synonymous AKAP10 2 81712 2.44762E-5 40856 0 3.18451E-5
17-19827729-T-C p.Thr581Thr synonymous AKAP10 1 82148 1.21732E-5 41074 0 4.1511E-6
17-19827734-G-A p.Arg580Trp missense AKAP10 1 82370 1.21403E-5 41185 0 0.00100705
17-19827741-T-C p.Leu577Leu synonymous AKAP10 1 82522 1.2118E-5 41261 0 1.2183E-5
17-19827750-T-C p.Pro574Pro synonymous AKAP10 3 82600 3.63196E-5 41300 0 NA
17-19827766-G-A p.Ala569Val missense AKAP10 1 82748 1.20849E-5 41374 0 2.50367E-5
17-19827781-G-A p.Ala564Val missense AKAP10 22 82664 2.66138E-4 41332 0 3.18634E-4
17-19827781-G-T p.Ala564Glu missense AKAP10 1 82666 1.20969E-5 41333 0 4.04796E-6
17-19827782-C-T p.Ala564Thr missense AKAP10 2 82712 2.41803E-5 41356 0 NA
17-19827797-T-G p.Lys559Gln missense AKAP10 2 82622 2.42066E-5 41311 0 NA
17-19827800-G-A p.Leu558Leu synonymous AKAP10 7 82620 8.47252E-5 41310 1 7.31386E-5
17-19827826-C-A c.73-1G>T splice_acceptor AKAP10 1 82148 1.21732E-5 41074 0 NA
17-19827827-T-C c.73-2A>G splice_acceptor AKAP10 78 82114 9.49899E-4 41057 0 0.00178571
17-19827831-C-A c.1642-1G>T splice_acceptor AKAP10 1 81878 1.22133E-5 40939 0 NA
17-19827837-T-C c.1642-7A>G splice_region AKAP10 11 81498 1.34973E-4 40749 0 2.8677E-4
17-19835112-C-T c.1641+6G>A splice_region AKAP10 7846 82282 0.095355 41141 324 0.106379
17-19835124-C-T p.Arg19His missense AKAP10 1 82940 1.20569E-5 41470 0 2.475E-5
17-19835125-GCAGAGCTGT-G p.Asp542_Ser544del disruptive_inframe_deletion AKAP10 2 82956 2.41092E-5 41478 0 NA
17-19835125-G-A p.Ala545Val missense AKAP10 3 82956 3.61638E-5 41478 0 6.37511E-5
17-19835126-C-T p.Ala545Thr missense AKAP10 1 82974 1.2052E-5 41487 0 4.00542E-6
17-19835128-G-A p.Ser544Phe missense AKAP10 1 83002 1.20479E-5 41501 0 1.64921E-5
17-19835129-A-C p.Ser544Ala missense AKAP10 1 83006 1.20473E-5 41503 0 3.18654E-5
17-19835130-G-C p.Ser543Arg missense AKAP10 1 83014 1.20462E-5 41507 0 NA
17-19835146-G-C p.Pro538Arg missense AKAP10 1 83168 1.20239E-5 41584 0 8.2409E-6
17-19835149-T-C p.His537Arg missense AKAP10 1 83166 1.20241E-5 41583 0 9.56206E-5
17-19835150-G-A p.His537Tyr missense AKAP10 2 83176 2.40454E-5 41588 0 1.27437E-4
17-19835157-A-C p.Asp534Glu missense AKAP10 15 83194 1.80301E-4 41597 0 0.00100705
17-19835166-G-A p.Ala5Val missense AKAP10 1 83218 1.20166E-5 41609 0 NA
17-19835173-G-C p.Ser529Cys missense AKAP10 1 83222 1.20161E-5 41611 0 7.4151E-5
17-19835185-G-C p.Thr525Ser missense AKAP10 21 83242 2.52276E-4 41621 0 5.73577E-4
17-19835190-C-T p.Ser523Ser synonymous AKAP10 1 83234 1.20143E-5 41617 0 0.00100705
17-19835191-G-A p.Ser523Leu missense AKAP10 626 83236 0.00752078 41618 14 0.0172546
17-19835201-C-T p.Gly520Arg missense AKAP10 1 83236 1.2014E-5 41618 0 1.64834E-5
17-19835202-G-A p.Gly519Gly synonymous AKAP10 9 83242 1.08118E-4 41621 0 6.59402E-5
17-19835204-C-T p.Gly519Ser missense AKAP10 3 83234 3.6043E-5 41617 0 1.1934E-5
17-19835212-T-A p.Glu516Val missense AKAP10 1 83244 1.20129E-5 41622 0 3.18613E-5
17-19835222-G-C p.Arg513Gly missense AKAP10 1 83240 1.20135E-5 41620 0 NA
17-19835227-G-A p.Ser511Leu missense AKAP10 6 83226 7.20929E-5 41613 0 3.18735E-5
17-19835228-A-C p.Ser511Ala missense AKAP10 1 83214 1.20172E-5 41607 0 NA
17-19835230-T-C p.His510Arg missense AKAP10 1 83222 1.20161E-5 41611 0 NA
17-19835247-A-G p.Tyr504Tyr synonymous AKAP10 2 83120 2.40616E-5 41560 0 NA
17-19835290-A-ACCTTCTCCATGGTTGTCCAGG p.Ala483_Lys489dup conservative_inframe_insertion AKAP10 2 82698 2.41844E-5 41349 0 NA
17-19835292-C-CTTCTCCATGGTTGTCCAGGCCTGACGTAATGGAGTTG c.1468-2_1468-1insCAACTCCATTACGTCAGGCCTGGACAACCATGGAGAA splice_acceptor AKAP10 1 82694 1.20928E-5 41347 0 NA
17-19839611-T-G p.Thr485Thr synonymous AKAP10 1 83130 1.20294E-5 41565 0 4.00525E-6
17-19839618-G-A p.Ala483Val missense AKAP10 1 83168 1.20239E-5 41584 0 NA
17-19839625-G-A p.Arg481Cys missense AKAP10 1 83214 1.20172E-5 41607 0 3.18431E-5
17-19839632-A-C p.Thr478Thr synonymous AKAP10 1 83240 1.20135E-5 41620 0 3.33439E-5
17-19839634-T-C p.Thr478Ala missense AKAP10 1 83230 1.20149E-5 41615 0 3.18431E-5
17-19839646-T-C p.Asn474Asp missense AKAP10 2 83258 2.40217E-5 41629 0 4.77677E-5
17-19839685-T-C p.Ile461Val missense AKAP10 1 83266 1.20097E-5 41633 0 NA
17-19839700-C-T p.Val456Ile missense AKAP10 2 83254 2.40229E-5 41627 0 1.99249E-4
17-19839702-T-C p.Asp455Gly missense AKAP10 1 83252 1.20117E-5 41626 0 8.30261E-6
17-19839706-C-G p.Asp454His missense AKAP10 1 83238 1.20137E-5 41619 0 NA
17-19839716-A-G p.Pro450Pro synonymous AKAP10 5 83238 6.00687E-5 41619 0 2.49705E-5
17-19839717-G-A p.Pro450Leu missense AKAP10 2 83238 2.40275E-5 41619 0 3.98546E-6
17-19839724-T-C p.Thr448Ala missense AKAP10 1 83238 1.20137E-5 41619 0 3.18512E-5
17-19839746-A-T c.1323-3T>A splice_region AKAP10 8 83022 9.636E-5 41511 0 6.37024E-5
17-19839747-T-C c.1323-4A>G splice_region AKAP10 43 83018 5.1796E-4 41509 1 0.0018476
17-19839748-G-T c.1323-5C>A splice_region AKAP10 1 83006 1.20473E-5 41503 0 NA
17-19843039-T-C p.Ile437Val missense AKAP10 2 83188 2.40419E-5 41594 0 1.64924E-5
17-19843073-T-C p.Gln425Gln synonymous AKAP10 2 83194 2.40402E-5 41597 0 8.23981E-6
17-19843091-A-C p.Leu419Leu synonymous AKAP10 153 83172 0.00183956 41586 1 0.00388708
17-19843094-C-G p.Gln418His missense AKAP10 2 83172 2.40466E-5 41586 0 8.2394E-6
17-19843096-G-A p.Gln418* stop_gained AKAP10 1 83164 1.20244E-5 41582 0 NA
17-19843101-T-C p.Gln416Arg missense AKAP10 1 83140 1.20279E-5 41570 0 8.24022E-6
17-19843115-T-C p.Ala411Ala synonymous AKAP10 1 83100 1.20337E-5 41550 0 5.1764E-5
17-19843121-CC-GA p.Trp409Phe missense AKAP10 2 83076 2.40743E-5 41538 0 NA
17-19843127-T-C p.Gln407Gln synonymous AKAP10 12 83050 1.44491E-4 41525 0 6.09499E-4
17-19843128-T-C p.Gln407Arg missense AKAP10 8 83052 9.63252E-5 41526 0 4.94951E-5
17-19843130-T-C p.Leu406Leu synonymous AKAP10 2 83060 2.4079E-5 41530 0 NA
17-19843130-T-TTGGC p.Gln407fs frameshift AKAP10 1 83060 1.20395E-5 41530 0 NA
17-19843131-A-AT p.Leu406fs frameshift AKAP10 1 83056 1.20401E-5 41528 0 NA
17-19843133-GA-TC p.Ile405Arg missense AKAP10 1 83054 1.20404E-5 41527 0 NA
17-19843135-T-C p.Ile405Val missense AKAP10 2 83054 2.40807E-5 41527 0 3.18903E-5
17-19843144-C-T p.Ala402Thr missense AKAP10 1 83030 1.20438E-5 41515 0 3.99304E-6
17-19843170-G-A c.1186-8C>T splice_region AKAP10 2 82912 2.4122E-5 41456 0 4.13373E-6
17-19844211-A-G p.Tyr392His missense AKAP10 1 83198 1.20195E-5 41599 0 8.65276E-6
17-19844229-A-G p.Cys386Arg missense AKAP10 1 83238 1.20137E-5 41619 0 8.44595E-6
17-19844260-A-G p.Ser375Ser synonymous AKAP10 2 83174 2.4046E-5 41587 0 8.38687E-6
17-19844272-T-A p.Glu371Asp missense AKAP10 1 83136 1.20285E-5 41568 0 NA
17-19844278-C-G p.Gln369His missense AKAP10 3 83144 3.6082E-5 41572 0 4.03463E-6
17-19844284-T-C p.Lys367Lys synonymous AKAP10 2 83116 2.40628E-5 41558 0 3.18431E-5
17-19844305-C-T p.Leu360Leu synonymous AKAP10 1 83056 1.20401E-5 41528 0 NA
17-19844311-C-T p.Glu358Glu synonymous AKAP10 5 83050 6.02047E-5 41525 0 4.19555E-6
17-19844315-C-T p.Ser357Asn missense AKAP10 1 83068 1.20383E-5 41534 0 NA
17-19844317-A-G p.Phe356Phe synonymous AKAP10 2 83072 2.40755E-5 41536 0 8.47802E-6
17-19844320-G-T p.His355Gln missense AKAP10 2 83054 2.40807E-5 41527 0 4.29708E-6
17-19844330-A-G c.1062-7T>C splice_region AKAP10 2 83012 2.40929E-5 41506 0 NA
17-19845127-GAACT-G c.1061+8_1061+11delAGTT splice_region AKAP10 2 81172 2.4639E-5 40586 0 9.00633E-6
17-19845155-T-C p.Ser349Gly missense AKAP10 1 82768 1.2082E-5 41384 0 NA
17-19845159-G-C p.Val347Val synonymous AKAP10 1 82954 1.20549E-5 41477 0 9.5511E-5
17-19845164-T-C p.Ile346Val missense AKAP10 2 83036 2.40859E-5 41518 0 6.25E-4
17-19845174-C-T p.Leu342Leu synonymous AKAP10 1 83094 1.20346E-5 41547 0 NA
17-19845179-C-T p.Val341Ile missense AKAP10 3 83090 3.61054E-5 41545 0 5.80605E-5
17-19845179-C-A p.Val341Phe missense AKAP10 1 83090 1.20351E-5 41545 0 5.03525E-4
17-19845180-G-A p.Phe340Phe synonymous AKAP10 1 83104 1.20331E-5 41552 0 3.18512E-5
17-19845187-T-C p.Asn338Ser missense AKAP10 7 83102 8.42338E-5 41551 0 9.5511E-5
17-19845202-C-T p.Gly333Glu missense AKAP10 3 83074 3.61124E-5 41537 0 6.3674E-5
17-19845223-G-C p.Ala326Gly missense+splice_region AKAP10 1 82980 1.20511E-5 41490 0 3.18573E-5
17-19845225-T-TATGATGTCATTTCTCATTGCTTCTGTAATTGGTATTGGTTTA c.977-3_977-2insTAAACCAATACCAATTACAGAAGCAATGAGAAATGACATCAT splice_region AKAP10 4 82952 4.82207E-5 41476 1 NA
17-19845225-T-TATGATGTCATTTCTCATTGCTTCTGTAATTGGTATTGGTTTAGCAGCATCTG c.977-3_977-2insCAGATGCTGCTAAACCAATACCAATTACAGAAGCAATGAGAAATGACATCAT splice_region AKAP10 1 82954 1.20549E-5 41477 0 NA
17-19845225-T-TATGATGTCATTTCTCATTGCTTCTGTAATTGGTATTGGTTTAGCA c.977-3_977-2insTGCTAAACCAATACCAATTACAGAAGCAATGAGAAATGACATCAT splice_region AKAP10 2 82954 2.41097E-5 41477 1 NA
17-19850751-T-C p.Pro315Pro synonymous AKAP10 1 82740 1.20861E-5 41370 0 3.97871E-6
17-19850780-T-C p.Ile306Val missense AKAP10 1 82706 1.2091E-5 41353 0 NA
17-19850781-A-G p.Tyr305Tyr synonymous AKAP10 1 82704 1.20913E-5 41352 0 NA
17-19850793-A-C p.Thr301Thr synonymous AKAP10 1 82680 1.20948E-5 41340 0 NA
17-19850794-G-A p.Thr301Ile missense AKAP10 3 82652 3.62968E-5 41326 0 1.64785E-5
17-19850806-T-A p.Asp297Val missense AKAP10 3 82490 3.6368E-5 41245 0 NA
17-19850816-T-C p.Ile294Val missense+splice_region AKAP10 1 82194 1.21663E-5 41097 0 3.98765E-6
17-19850817-A-ACTTTTCATTAGTTTT p.Lys292_Ser293insArgLysLeuMetLys disruptive_inframe_insertion AKAP10 1 82248 1.21584E-5 41124 0 NA
17-19850818-C-CTTTTCATTAGTTTTCCTGACAATTCTTTTAGTGGAGAAGCGGGACTATTT c.878-1_878insAAATAGTCCCGCTTCTCCACTAAAAGAATTGTCAGGAAAACTAATGAAAA splice_acceptor AKAP10 6 82198 7.29945E-5 41099 3 NA
17-19861329-T-C p.Lys292Arg missense+splice_region AKAP10 1 83286 1.20068E-5 41643 0 NA
17-19861351-C-T p.Glu285Lys missense AKAP10 1 83322 1.20016E-5 41661 0 NA
17-19861354-T-C p.Lys284Glu missense AKAP10 2 83328 2.40015E-5 41664 0 NA
17-19861358-T-A p.Pro282Pro synonymous AKAP10 1 83332 1.20002E-5 41666 0 NA
17-19861364-A-C p.Ala280Ala synonymous AKAP10 1 83342 1.19988E-5 41671 0 6.25E-4
17-19861366-C-T p.Ala280Thr missense AKAP10 3 83338 3.5998E-5 41669 0 1.35625E-4
17-19861367-G-A p.Pro279Pro synonymous AKAP10 6 83340 7.19942E-5 41670 0 1.27405E-4
17-19861380-C-G p.Ser275Thr missense AKAP10 1 83344 1.19985E-5 41672 0 NA
17-19861384-C-T p.Ala274Thr missense AKAP10 6 83340 7.19942E-5 41670 0 2.47198E-5
17-19861388-T-A p.Thr272Thr synonymous AKAP10 2 83338 2.39987E-5 41669 0 NA
17-19861389-G-C p.Thr272Arg missense AKAP10 1 83336 1.19996E-5 41668 0 8.23873E-6
17-19861392-A-G p.Leu271Pro missense AKAP10 2 83332 2.40004E-5 41666 0 NA
17-19861409-T-C p.Gln265Gln synonymous AKAP10 1 83340 1.1999E-5 41670 0 4.11828E-5
17-19861437-C-G p.Gly256Ala missense AKAP10 4 83336 4.79985E-5 41668 0 6.37267E-5
17-19861439-T-C p.Ala255Ala synonymous AKAP10 1 83338 1.19993E-5 41669 0 3.97636E-6
17-19861442-T-G p.Arg254Ser missense AKAP10 18 83338 2.15988E-4 41669 0 0.00453172
17-19861449-A-G p.Met252Thr missense AKAP10 1 83336 1.19996E-5 41668 0 8.23642E-6
17-19861454-A-C p.Leu250Leu synonymous AKAP10 2 83334 2.39998E-5 41667 0 6.36983E-5
17-19861458-C-T p.Arg249His missense AKAP10 33018 83184 0.396927 41592 6788 0.415911
17-19861465-A-G p.Ser247Pro missense AKAP10 1 83338 1.19993E-5 41669 0 NA
17-19861494-A-C p.Leu237Arg missense AKAP10 1 83346 1.19982E-5 41673 0 3.97643E-6
17-19861511-G-C p.Ser231Arg missense AKAP10 1 83354 1.1997E-5 41677 0 2.47105E-5
17-19861513-T-G p.Ser231Arg missense AKAP10 10 83346 1.19982E-4 41673 0 2.22859E-4
17-19861514-G-T p.Asn230Lys missense AKAP10 1 83350 1.19976E-5 41675 0 3.97643E-6
17-19861544-T-G p.Ser220Ser synonymous AKAP10 2 83336 2.39992E-5 41668 0 NA
17-19861555-T-C p.Met217Val missense AKAP10 4 83322 4.80065E-5 41661 0 6.3678E-5
17-19861556-A-C p.Phe216Leu missense AKAP10 5 83322 6.00082E-5 41661 0 4.9478E-5
17-19861568-T-TGAG p.Ser212dup disruptive_inframe_insertion AKAP10 1 83320 1.20019E-5 41660 0 3.9775E-6
17-19861570-A-C p.Ser212Ala missense AKAP10 5 83318 6.0011E-5 41659 0 NA
17-19861578-T-A p.Asp209Val missense AKAP10 6 83316 7.2015E-5 41658 0 1.98193E-4
17-19861586-T-C p.Arg206Arg synonymous AKAP10 1 83304 1.20042E-5 41652 0 3.1835E-5
17-19861591-T-C p.Lys205Glu missense AKAP10 1 83304 1.20042E-5 41652 0 NA
17-19861599-G-C p.Ser202Cys missense AKAP10 123 83296 0.00147666 41648 3 0.00526601
17-19861599-G-T p.Ser202Tyr missense AKAP10 1 83304 1.20042E-5 41652 0 NA
17-19861607-TAAA-T p.Phe198del disruptive_inframe_deletion AKAP10 2 83302 2.4009E-5 41651 0 8.27185E-6
17-19861616-C-T p.Ala196Ala synonymous AKAP10 2 83298 2.40102E-5 41649 0 2.48123E-5
17-19861617-G-A p.Ala196Val missense AKAP10 3 83288 3.60196E-5 41644 0 3.98219E-6
17-19861622-A-G p.Thr194Thr synonymous AKAP10 2 83302 2.4009E-5 41651 0 NA
17-19861640-T-C p.Pro188Pro synonymous AKAP10 3 83292 3.60179E-5 41646 0 6.3674E-5
17-19861644-G-A p.Ser187Phe missense AKAP10 3 83292 3.60179E-5 41646 0 2.78447E-5
17-19861648-C-G p.Val186Leu missense AKAP10 1 83290 1.20062E-5 41645 0 1.64957E-5
17-19861656-G-A p.Ala183Val missense AKAP10 1 83272 1.20088E-5 41636 0 NA
17-19861658-C-G p.Leu182Leu synonymous AKAP10 1 83272 1.20088E-5 41636 0 NA
17-19861661-T-C p.Ser181Ser synonymous AKAP10 1 83270 1.20091E-5 41635 0 7.95475E-6
17-19861664-G-A p.Ser180Ser synonymous AKAP10 2 83286 2.40136E-5 41643 0 8.24117E-6
17-19861689-T-C p.His172Arg missense AKAP10 3 83296 3.60161E-5 41648 0 NA
17-19861699-T-C p.Ile169Val missense AKAP10 1 83286 1.20068E-5 41643 0 3.1839E-5
17-19861704-G-A p.Ser167Leu missense AKAP10 3 83272 3.60265E-5 41636 0 2.22916E-4
17-19861713-G-A p.Thr164Ile missense AKAP10 1 83278 1.2008E-5 41639 0 8.23764E-6
17-19861727-T-C p.Glu159Glu synonymous AKAP10 2 83270 2.40183E-5 41635 0 8.2375E-6
17-19861729-C-T p.Glu159Lys missense AKAP10 1 83270 1.20091E-5 41635 0 3.97659E-6
17-19861732-C-T p.Ala158Thr missense AKAP10 2 83276 2.40165E-5 41638 0 NA
17-19861745-T-C p.Lys153Lys synonymous AKAP10 2 83286 2.40136E-5 41643 0 3.97668E-5
17-19861757-C-T p.Ser148Asn missense AKAP10 1 83290 1.20062E-5 41645 0 1.64756E-5
17-19861764-C-T p.Arg147Gln missense AKAP10 1 83302 1.20045E-5 41651 0 3.18471E-5
17-19861776-A-G p.Met143Thr missense AKAP10 1 83296 1.20054E-5 41648 0 NA
17-19861783-G-C p.Gln141Glu missense AKAP10 1 83304 1.20042E-5 41652 0 NA
17-19861790-G-A p.Thr128Ile missense AKAP10 1 83296 1.20054E-5 41648 0 NA
17-19861793-A-G p.Leu127Pro missense AKAP10 2 83302 2.4009E-5 41651 0 3.98029E-6
17-19861799-G-A p.Ser125Phe missense AKAP10 2 83306 2.40079E-5 41653 0 5.97476E-5
17-19861804-T-C p.Ile134Val missense AKAP10 18 83310 2.1606E-4 41655 0 5.09522E-4
17-19861806-G-A p.Thr133Ile missense AKAP10 1 83312 1.20031E-5 41656 0 NA
17-19861810-C-T p.Asp132Asn missense AKAP10 2 83308 2.40073E-5 41654 0 1.64981E-5
17-19861811-G-A p.Thr121Met missense AKAP10 1 83306 1.20039E-5 41653 0 1.99653E-5
17-19861814-C-T p.Cys120Tyr missense AKAP10 1 83306 1.20039E-5 41653 0 NA
17-19861834-T-C p.Lys124Glu missense AKAP10 2 83302 2.4009E-5 41651 0 NA
17-19861865-G-A p.Thr103Ile missense AKAP10 10 83258 1.20109E-4 41629 0 5.04032E-4
17-19861871-C-T p.Trp101* stop_gained AKAP10 1 83244 1.20129E-5 41622 0 8.41085E-6
17-19861891-G-C c.320-7C>G splice_region AKAP10 2 83108 2.40651E-5 41554 0 4.51937E-6
17-19866152-C-T c.319+1G>A splice_donor AKAP10 2 83308 2.40073E-5 41654 0 4.00394E-6
17-19866172-G-A p.Pro90Leu missense AKAP10 3 83318 3.60066E-5 41659 0 1.99685E-5
17-19866182-T-A p.His97Leu missense AKAP10 1 83338 1.19993E-5 41669 0 NA
17-19866188-G-T p.Pro95Gln missense AKAP10 1 83328 1.20008E-5 41664 0 0.00151057
17-19866190-C-G p.Gln94His missense AKAP10 1 83324 1.20013E-5 41662 0 NA
17-19866203-G-A p.Thr90Ile missense AKAP10 2 83330 2.4001E-5 41665 0 3.18431E-5
17-19866252-T-C p.Asn74Asp missense AKAP10 1 83322 1.20016E-5 41661 0 NA
17-19866255-T-C p.Ile73Val missense AKAP10 4 83316 4.801E-5 41658 0 1.27364E-4
17-19866290-G-A p.Ala61Val missense AKAP10 2 83292 2.40119E-5 41646 0 NA
17-19866299-T-C p.Lys58Arg missense AKAP10 1 83286 1.20068E-5 41643 0 NA
17-19866303-T-C p.Thr57Ala missense AKAP10 2 83290 2.40125E-5 41645 0 3.18654E-5
17-19866331-T-C p.Ser47Ser synonymous AKAP10 2 83194 2.40402E-5 41597 0 2.05288E-4
17-19866338-A-G c.137-3T>C splice_region AKAP10 3 83118 3.60933E-5 41559 0 1.6645E-5
17-19871732-A-G p.Ile44Thr missense AKAP10 219 82658 0.00264947 41329 4 0.00468242
17-19871740-C-G p.Val41Val synonymous AKAP10 222 82710 0.00268408 41355 4 0.00646703
17-19871741-A-C p.Val41Gly missense AKAP10 1 82714 1.20899E-5 41357 0 0.00125
17-19871744-T-C p.Asp40Gly missense AKAP10 1 82720 1.2089E-5 41360 0 NA
17-19871746-T-G p.Ser39Ser synonymous AKAP10 158 82716 0.00191015 41358 0 0.0024527
17-19871746-T-C p.Ser39Ser synonymous AKAP10 22 82718 2.65964E-4 41359 0 2.47215E-4
17-19871750-G-A p.Thr38Ile missense AKAP10 5 82720 6.04449E-5 41360 0 3.18593E-5
17-19871756-T-C p.Glu36Gly missense AKAP10 3 82696 3.62775E-5 41348 0 NA
17-19871765-T-C p.Lys33Arg missense AKAP10 2 82664 2.41943E-5 41332 0 3.29658E-5
17-19871774-A-G p.Val30Ala missense+splice_region AKAP10 2 82596 2.42142E-5 41298 0 NA
17-19871778-G-C c.89-4C>G splice_region AKAP10 106 82544 0.00128416 41272 1 0.00312341
17-19880910-C-T p.Arg28Gln missense AKAP10 1 68018 1.4702E-5 34009 0 NA
17-19880927-G-A p.Ala22Ala synonymous AKAP10 1 69956 1.42947E-5 34978 0 NA
17-19880930-G-T p.Pro21Pro synonymous AKAP10 1 70022 1.42812E-5 35011 0 0.00344828
17-19880932-G-C p.Pro21Ala missense AKAP10 1 70028 1.428E-5 35014 0 NA
17-19880936-C-G p.Pro19Pro synonymous AKAP10 2 70014 2.85657E-5 35007 0 NA
17-19880944-G-C p.Pro17Ala missense AKAP10 1 70444 1.41957E-5 35222 0 1.07921E-4
17-19880947-G-A p.Arg16Cys missense AKAP10 1 70464 1.41916E-5 35232 0 NA
17-19880949-AG-A p.Leu15fs frameshift AKAP10 2 70374 2.84196E-5 35187 0 NA
17-19880952-G-A p.Thr14Ile missense AKAP10 1 70672 1.41499E-5 35336 0 NA
17-19880954-G-A p.Arg13Arg synonymous AKAP10 1 70674 1.41495E-5 35337 0 NA
17-19880955-CG-C p.Arg13fs frameshift AKAP10 1 70574 1.41695E-5 35287 0 NA
17-19880956-G-A p.Arg13Cys missense AKAP10 1 70790 1.41263E-5 35395 0 NA
17-19880960-G-A p.Ser11Ser synonymous AKAP10 4 71104 5.62556E-5 35552 0 6.37633E-5
17-19880961-G-A p.Ser11Phe missense AKAP10 2 71116 2.81231E-5 35558 0 NA
17-19880967-C-T p.Arg9His missense AKAP10 1 70986 1.40873E-5 35493 0 NA
17-19880970-G-C p.Pro8Arg missense AKAP10 2 71204 2.80883E-5 35602 0 NA
17-19880973-G-A p.Ser7Phe missense AKAP10 1 71358 1.40138E-5 35679 0 NA
17-19880976-G-A p.Pro6Leu missense AKAP10 1 71370 1.40115E-5 35685 0 NA
17-19880981-G-A p.Ala4Ala synonymous AKAP10 1 71460 1.39938E-5 35730 0 NA
17-19880986-C-T p.Gly3Arg missense AKAP10 5 71762 6.96748E-5 35881 0 8.93017E-5
17-19880990-C-G p.Met1? start_lost AKAP10 1 71780 1.39315E-5 35890 0 NA
17-19881007-G-A c.-15C>T 5_prime_UTR_premature_start_codon_gain AKAP10 1 71832 1.39214E-5 35916 0 6.30517E-4
17-19881022-G-C c.-30C>G 5_prime_UTR_premature_start_codon_gain AKAP10 3 71708 4.18363E-5 35854 0 NA
17-19881080-C-A c.-88G>T 5_prime_UTR_premature_start_codon_gain AKAP10 1 67936 1.47197E-5 33968 0 NA
17-19881113-T-C c.-121A>G 5_prime_UTR_premature_start_codon_gain AKAP10 2 65448 3.05586E-5 32724 0 NA
17-19881131-C-A c.-139G>T 5_prime_UTR_premature_start_codon_gain AKAP10 4 62668 6.38284E-5 31334 0 NA
17-19881136-G-A c.-144C>T 5_prime_UTR_premature_start_codon_gain AKAP10 7 61996 1.12911E-4 30998 0 6.57895E-4
17-19881541-G-A n.110+6C>T splice_region AKAP10 1 400 0.0025 200 0 0.00602256