Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-97779251-A-G c.-226A>G 5_prime_UTR_premature_start_codon_gain ANKRD36 1 39078 2.55898E-5 19539 0 NA
2-97779277-T-C c.-200T>C 5_prime_UTR_premature_start_codon_gain ANKRD36 1 50506 1.97996E-5 25253 0 NA
2-97779302-G-A c.-175G>A 5_prime_UTR_premature_start_codon_gain ANKRD36 2 61382 3.25828E-5 30691 0 NA
2-97779340-C-T c.-137C>T 5_prime_UTR_premature_start_codon_gain ANKRD36 2 75168 2.66071E-5 37584 0 NA
2-97779378-C-T c.-99C>T 5_prime_UTR_premature_start_codon_gain ANKRD36 2 79412 2.51851E-5 39706 0 NA
2-97779385-A-T c.-92A>T 5_prime_UTR_premature_start_codon_gain ANKRD36 1 80146 1.24772E-5 40073 0 NA
2-97779388-C-T c.-89C>T 5_prime_UTR_premature_start_codon_gain ANKRD36 1 80386 1.244E-5 40193 0 NA
2-97779398-C-T c.-79C>T 5_prime_UTR_premature_start_codon_gain ANKRD36 6 81100 7.39827E-5 40550 0 3.20287E-5
2-97779400-T-C c.-77T>C 5_prime_UTR_premature_start_codon_gain ANKRD36 1 81216 1.23128E-5 40608 0 NA
2-97779445-C-T c.-32C>T 5_prime_UTR_premature_start_codon_gain ANKRD36 8 82744 9.66837E-5 41372 1 6.25E-4
2-97779457-A-G c.-20A>G 5_prime_UTR_premature_start_codon_gain ANKRD36 3 82702 3.62748E-5 41351 0 1.29538E-4
2-97779462-T-C c.-15T>C 5_prime_UTR_premature_start_codon_gain ANKRD36 1 82816 1.2075E-5 41408 0 NA
2-97779478-T-A p.Met1? start_lost ANKRD36 118 82580 0.00142892 41290 3 0.0075
2-97779487-GC-G p.Lys5fs frameshift ANKRD36 4992 82960 0.0601736 41480 245 0.088901
2-97779487-G-A p.Gly4Asp missense ANKRD36 129 82658 0.00156065 41329 3 0.0075
2-97779489-A-G p.Lys5Glu missense ANKRD36 123 82612 0.00148889 41306 3 0.0089852
2-97779493-G-C p.Arg6Pro missense ANKRD36 3 83064 3.61167E-5 41532 1 NA
2-97779501-T-A p.Trp9Arg missense ANKRD36 3 83058 3.61193E-5 41529 0 8.34989E-6
2-97779503-G-T p.Trp9Cys missense ANKRD36 1 83066 1.20386E-5 41533 0 NA
2-97779519-C-G p.Arg15Gly missense ANKRD36 1 83136 1.20285E-5 41568 0 8.34098E-6
2-97779520-G-C p.Arg15Pro missense ANKRD36 2 83130 2.40587E-5 41565 0 NA
2-97779522-T-A p.Leu16Met missense ANKRD36 1 83146 1.2027E-5 41573 0 8.34056E-6
2-97779526-G-C p.Cys17Ser missense ANKRD36 2 83162 2.40494E-5 41581 0 NA
2-97779529-C-G p.Ser18Trp missense ANKRD36 1 83166 1.20241E-5 41583 0 8.03213E-6
2-97779534-G-A p.Gly20Ser missense ANKRD36 7 83174 8.41609E-5 41587 0 5.29101E-4
2-97779540-GC-TT p.Ala22Leu missense ANKRD36 3 83180 3.60664E-5 41590 0 NA
2-97779544-T-A p.Phe23Tyr missense ANKRD36 1 83190 1.20207E-5 41595 0 4.01519E-6
2-97779546-C-T p.Pro24Ser missense ANKRD36 2 83192 2.40408E-5 41596 0 NA
2-97779548-C-G p.Pro24Pro synonymous ANKRD36 2 83196 2.40396E-5 41598 0 NA
2-97779551-A-T p.Gln25His missense ANKRD36 9 83124 1.08272E-4 41562 0 7.40026E-4
2-97779555-C-T p.Pro27Ser missense ANKRD36 7 83114 8.42217E-5 41557 0 6.75198E-4
2-97779556-C-A p.Pro27His missense ANKRD36 9 83118 1.0828E-4 41559 0 6.75198E-4
2-97779565-C-T p.Pro30Leu missense ANKRD36 2 83222 2.40321E-5 41611 0 1.96714E-4
2-97779566-G-A p.Pro30Pro synonymous ANKRD36 4 83218 4.80665E-5 41609 0 4.0149E-6
2-97779566-G-C p.Pro30Pro synonymous ANKRD36 2 83218 2.40333E-5 41609 0 1.66661E-5
2-97779569-T-TA p.His32fs frameshift ANKRD36 3 83222 3.60482E-5 41611 0 NA
2-97779579-A-G p.Arg35Gly missense ANKRD36 25 83242 3.00329E-4 41621 1 0.00369979
2-97779581-G-A p.Arg35Arg synonymous ANKRD36 1 83238 1.20137E-5 41619 0 NA
2-97779588-A-G p.Arg38Gly missense ANKRD36 1 83242 1.20132E-5 41621 0 8.33931E-5
2-97779593-TG-T p.Val40fs frameshift ANKRD36 10 83246 1.20126E-4 41623 0 9.57426E-5
2-97779601-A-G p.His42Arg missense ANKRD36 47 83232 5.64687E-4 41616 1 0.00369979
2-97779601-A-C p.His42Pro missense ANKRD36 1 83256 1.20111E-5 41628 0 8.3545E-6
2-97779604-G-A p.Gly43Asp missense ANKRD36 2 83240 2.40269E-5 41620 0 8.35953E-6
2-97779611-A-G p.Leu45Leu synonymous ANKRD36 38 83174 4.56874E-4 41587 0 0.00170363
2-97779615-A-G p.Lys47Glu missense ANKRD36 1 83220 1.20163E-5 41610 0 1.6783E-5
2-97779616-A-T p.Lys47Ile missense ANKRD36 8 83222 9.61284E-5 41611 0 1.60768E-5
2-97779619-T-C p.Leu48Pro missense ANKRD36 6 83216 7.21015E-5 41608 0 9.58708E-4
2-97779621-A-G p.Lys49Glu missense ANKRD36 3 83206 3.60551E-5 41603 0 8.41368E-6
2-97779639-T-C p.Tyr55His missense ANKRD36 19 83140 2.2853E-4 41570 0 1.27902E-4
2-97779648-G-A p.Ala58Thr missense ANKRD36 6 83092 7.22091E-5 41546 0 8.08127E-5
2-97779649-C-T p.Ala58Val missense ANKRD36 6 83078 7.22213E-5 41539 0 7.6754E-5
2-97779657-A-G p.Arg61Gly missense ANKRD36 1 83070 1.2038E-5 41535 0 4.06296E-6
2-97779668-G-C p.Lys64Asn missense ANKRD36 3 82970 3.61576E-5 41485 0 4.10445E-6
2-97779680-G-T c.197+7G>T splice_region ANKRD36 5 82844 6.03544E-5 41422 0 3.83178E-5
2-97783805-G-A p.Ala68Thr missense ANKRD36 10 80554 1.2414E-4 40277 0 0.00169209
2-97783811-C-G p.His70Asp missense ANKRD36 2 80506 2.48429E-5 40253 0 4.66032E-4
2-97783827-C-T p.Thr75Ile missense ANKRD36 1 80450 1.24301E-5 40225 0 2.63006E-5
2-97783831-C-T p.Gly76Gly synonymous ANKRD36 1433 68152 0.0210265 34076 97 0.14566
2-97783837-G-A p.Pro78Pro synonymous ANKRD36 3 80444 3.7293E-5 40222 0 0.00350877
2-97783846-A-G p.Val81Val synonymous ANKRD36 1 80604 1.24063E-5 40302 0 4.53356E-5
2-97783875-T-C p.Leu91Pro missense ANKRD36 39 81382 4.79221E-4 40691 5 0.0199898
2-97783885-C-A p.Cys94* stop_gained ANKRD36 1 81688 1.22417E-5 40844 0 2.3721E-4
2-97783889-C-T p.Arg96Cys missense ANKRD36 5 81768 6.11486E-5 40884 1 2.64211E-4
2-97783890-G-A p.Arg96His missense ANKRD36 1 81808 1.22237E-5 40904 0 0.00373134
2-97783921-T-C c.312+6T>C splice_region ANKRD36 2 82090 2.43635E-5 41045 1 5.88097E-5
2-97784078-C-T c.313-3C>T splice_region ANKRD36 1 81574 1.22588E-5 40787 0 NA
2-97784086-ACAACTGAGGCAGGAGGCTTGTG-A p.Arg109fs frameshift ANKRD36 1 81476 1.22736E-5 40738 0 8.10557E-6
2-97784088-A-G p.Gln107Arg missense ANKRD36 1 81458 1.22763E-5 40729 0 1.62121E-5
2-97784088-A-C p.Gln107Pro missense ANKRD36 1 81460 1.2276E-5 40730 0 3.19448E-5
2-97784099-G-A p.Glu111Lys missense ANKRD36 2 81326 2.45924E-5 40663 0 1.62264E-5
2-97784102-G-A p.Ala112Thr missense ANKRD36 7 81278 8.61242E-5 40639 0 7.54198E-5
2-97784118-T-C p.Leu117Pro missense ANKRD36 1 81184 1.23177E-5 40592 0 NA
2-97784131-C-T p.Gly121Gly synonymous ANKRD36 4 81068 4.93413E-5 40534 0 3.34158E-5
2-97784132-G-GC p.Asn123fs frameshift ANKRD36 1 81058 1.23368E-5 40529 0 3.20451E-5
2-97784132-G-A p.Ala122Thr missense ANKRD36 4 81058 4.93474E-5 40529 0 6.41026E-4
2-97784135-A-T p.Asn123Tyr missense ANKRD36 1 80998 1.2346E-5 40499 0 8.01817E-4
2-97784136-A-G p.Asn123Ser missense ANKRD36 1 81030 1.23411E-5 40515 0 8.05873E-6
2-97784141-A-G p.Asn125Asp missense ANKRD36 3 81002 3.70361E-5 40501 0 8.4631E-5
2-97784141-A-C p.Asn125His missense ANKRD36 1 81002 1.23454E-5 40501 0 NA
2-97784142-A-T p.Asn125Ile missense ANKRD36 7 80992 8.64283E-5 40496 0 5.01077E-5
2-97784148-C-T p.Thr127Met missense ANKRD36 7 80958 8.64646E-5 40479 0 3.52632E-4
2-97784149-G-A p.Thr127Thr synonymous ANKRD36 1 80942 1.23545E-5 40471 0 1.49142E-4
2-97784153-T-G p.Phe129Val missense ANKRD36 5 80810 6.18735E-5 40405 0 0.00903226
2-97784165-A-G p.Thr133Ala missense ANKRD36 4 80882 4.94548E-5 40441 1 0.0012987
2-97784168-G-A p.Ala134Thr missense ANKRD36 2 80874 2.47298E-5 40437 0 NA
2-97784175-A-G p.His136Arg missense ANKRD36 1 80822 1.23729E-5 40411 0 1.68481E-5
2-97784177-T-C p.Tyr137His missense ANKRD36 123 80750 0.00152322 40375 1 0.00171258
2-97784178-A-G p.Tyr137Cys missense ANKRD36 1 80808 1.2375E-5 40404 0 NA
2-97784179-C-T p.Tyr137Tyr synonymous ANKRD36 1 80790 1.23778E-5 40395 0 NA
2-97784180-G-A p.Ala138Thr missense ANKRD36 21 80764 2.60017E-4 40382 0 0.00122179
2-97784194-A-G p.Glu142Glu synonymous ANKRD36 3 80680 3.71839E-5 40340 1 3.22331E-5
2-97784197-T-C p.Asp143Asp synonymous ANKRD36 1 80632 1.2402E-5 40316 0 1.29166E-4
2-97784215-ACTT-A p.Leu151del conservative_inframe_deletion ANKRD36 3 80412 3.73079E-5 40206 0 6.52529E-5
2-97784216-C-A p.Leu150Ile missense ANKRD36 1 80402 1.24375E-5 40201 0 1.0651E-5
2-97784225-C-T p.His153Tyr missense ANKRD36 1 80206 1.24679E-5 40103 0 1.14356E-4
2-97784226-A-G p.His153Arg missense ANKRD36 4 80192 4.98803E-5 40096 0 1.03586E-4
2-97784231-A-G p.Thr155Ala missense ANKRD36 1 80010 1.24984E-5 40005 0 1.18304E-4
2-97788620-A-G c.487-4A>G splice_region ANKRD36 2 81126 2.4653E-5 40563 0 NA
2-97788622-A-G c.487-2A>G splice_acceptor ANKRD36 1 81132 1.23256E-5 40566 0 6.73102E-6
2-97788624-T-A p.Cys163Ser missense+splice_region ANKRD36 1 81136 1.2325E-5 40568 0 0.00223214
2-97788624-T-C p.Cys163Arg missense+splice_region ANKRD36 1 81140 1.23244E-5 40570 0 3.18634E-5
2-97788625-G-A p.Cys163Tyr missense+splice_region ANKRD36 3 81138 3.6974E-5 40569 0 0.00223214
2-97788629-A-G p.Glu164Glu synonymous ANKRD36 4 81142 4.92963E-5 40571 0 NA
2-97788657-C-T p.Arg174* stop_gained ANKRD36 5 81146 6.16173E-5 40573 0 3.19122E-5
2-97788657-C-G p.Arg174Gly missense ANKRD36 1 81144 1.23238E-5 40572 0 6.46705E-6
2-97788658-G-A p.Arg174Gln missense ANKRD36 1 81146 1.23235E-5 40573 0 6.37755E-5
2-97788674-G-A p.Met179Ile missense ANKRD36 2 81156 2.46439E-5 40578 0 NA
2-97788699-G-A p.Ala188Thr missense ANKRD36 4 81120 4.93097E-5 40560 0 1.3619E-4
2-97788711-G-A p.Ala192Thr missense ANKRD36 1 81094 1.23314E-5 40547 0 NA
2-97788713-CATTG-C p.Asp194fs frameshift ANKRD36 1 81090 1.2332E-5 40545 0 NA
2-97788715-T-C p.Ile193Thr missense ANKRD36 1 81086 1.23326E-5 40543 0 3.18674E-5
2-97788727-G-T p.Gly197Val missense ANKRD36 3 81034 3.70215E-5 40517 0 9.24727E-5
2-97788728-C-G p.Gly197Gly splice_region+synonymous ANKRD36 1 81028 1.23414E-5 40514 0 NA
2-97788732-T-C c.593+2T>C splice_donor ANKRD36 12 80992 1.48163E-4 40496 2 1.86411E-4
2-97788734-C-T c.593+4C>T splice_region ANKRD36 1 80992 1.23469E-5 40496 0 NA
2-97790190-AT-A c.594-6delT splice_region ANKRD36 2 80512 2.4841E-5 40256 0 4.56871E-5
2-97790201-G-A p.Ala200Thr missense ANKRD36 1 80772 1.23805E-5 40386 0 NA
2-97790204-C-A p.Leu201Ile missense ANKRD36 1 80804 1.23756E-5 40402 0 6.46998E-6
2-97790209-A-G p.Ile202Met missense ANKRD36 1 80894 1.23619E-5 40447 0 NA
2-97790211-A-T p.His203Leu missense ANKRD36 2 80926 2.47139E-5 40463 0 2.94125E-4
2-97790214-C-A p.Ala204Asp missense ANKRD36 1 80978 1.2349E-5 40489 0 0.00107066
2-97790216-G-A p.Val205Ile missense ANKRD36 2 81006 2.46895E-5 40503 0 3.18959E-5
2-97790222-C-T p.Leu207Phe missense ANKRD36 1 81118 1.23277E-5 40559 0 NA
2-97790242-C-A p.Val213Val synonymous ANKRD36 1 81412 1.22832E-5 40706 0 NA
2-97790243-ATTC-A p.Leu217del disruptive_inframe_deletion ANKRD36 64 81428 7.8597E-4 40714 1 0.00298882
2-97790243-AT-A p.Leu215fs frameshift ANKRD36 1 81428 1.22808E-5 40714 0 NA
2-97790253-T-A p.Leu217Gln missense ANKRD36 1 81580 1.22579E-5 40790 0 4.21479E-5
2-97790255-C-T p.Gln218* stop_gained ANKRD36 1 81626 1.2251E-5 40813 0 NA
2-97790256-A-T p.Gln218Leu missense ANKRD36 1 81630 1.22504E-5 40815 0 NA
2-97790260-CA-C p.Asn220fs frameshift ANKRD36 1 81676 1.22435E-5 40838 0 NA
2-97790260-C-A p.His219Gln missense ANKRD36 1 81676 1.22435E-5 40838 0 NA
2-97790262-A-G p.Asn220Ser missense ANKRD36 2 81694 2.44816E-5 40847 0 NA
2-97790269-T-C p.Asp222Asp synonymous ANKRD36 1 81790 1.22264E-5 40895 0 6.25E-4
2-97790273-C-T p.Leu224Phe missense ANKRD36 4 81866 4.88603E-5 40933 0 0.00358974
2-97790279-C-G p.Arg226Gly missense ANKRD36 25 81880 3.05325E-4 40940 0 4.11252E-4
2-97790279-C-T p.Arg226* stop_gained ANKRD36 2 81884 2.44248E-5 40942 0 4.11252E-5
2-97790286-C-T p.Ala228Val missense ANKRD36 16 81898 1.95365E-4 40949 1 0.00131148
2-97790287-G-A p.Ala228Ala synonymous ANKRD36 127 81902 0.00155063 40951 2 0.00200491
2-97790288-T-C p.Phe229Leu missense ANKRD36 1 81934 1.22049E-5 40967 0 NA
2-97790291-C-T p.Arg230* stop_gained ANKRD36 7 81940 8.54284E-5 40970 0 0.00102564
2-97790299-T-C p.Ile232Ile synonymous ANKRD36 1 81976 1.21987E-5 40988 0 1.15725E-4
2-97790312-G-A p.Ala237Thr missense ANKRD36 3 81976 3.65961E-5 40988 0 1.83887E-5
2-97790320-G-A p.Glu239Glu synonymous ANKRD36 2 81928 2.44117E-5 40964 0 6.16021E-6
2-97790321-G-A p.Ala240Thr missense ANKRD36 12 81926 1.46474E-4 40963 0 1.27584E-4
2-97790322-C-A p.Ala240Asp missense ANKRD36 5 81940 6.10203E-5 40970 0 3.19E-5
2-97790325-A-G p.Lys241Arg missense ANKRD36 1 81916 1.22076E-5 40958 0 NA
2-97790328-A-G p.Asn242Ser missense ANKRD36 2 81902 2.44194E-5 40951 0 0.00155602
2-97790333-G-A p.Val244Ile missense+splice_region ANKRD36 1 81856 1.22166E-5 40928 0 3.18939E-5
2-97790340-T-C c.731+6T>C splice_region ANKRD36 1 81762 1.22306E-5 40881 0 6.49604E-6
2-97792796-A-G c.732-8A>G splice_region ANKRD36 2 73364 2.72613E-5 36682 0 2.24201E-4
2-97792811-G-T p.Asp247Tyr missense ANKRD36 2 74816 2.67323E-5 37408 0 1.7003E-4
2-97792812-A-T p.Asp247Val missense ANKRD36 10 74856 1.3359E-4 37428 0 4.82114E-5
2-97792828-C-T p.Tyr252Tyr synonymous ANKRD36 92 75346 0.00122103 37673 3 0.0146684
2-97792829-G-A p.Glu253Lys missense ANKRD36 34 74770 4.54728E-4 37385 0 0.0115613
2-97792848-A-T p.Asp259Val missense ANKRD36 1 75410 1.32608E-5 37705 0 NA
2-97792849-T-A p.Asp259Glu missense ANKRD36 1 75396 1.32633E-5 37698 0 3.19591E-5
2-97792856-A-G p.Ile262Val missense ANKRD36 2 75474 2.64992E-5 37737 0 9.48227E-5
2-97792861-T-C p.Asn263Asn synonymous ANKRD36 2 75318 2.65541E-5 37659 0 4.74699E-5
2-97792872-G-A c.799+1G>A splice_donor ANKRD36 1 74880 1.33547E-5 37440 0 NA
2-97792874-A-G c.799+3A>G splice_region ANKRD36 1 74896 1.33518E-5 37448 0 0.0318802
2-97808383-C-G p.Ser269Cys missense ANKRD36 1 80348 1.24459E-5 40174 0 2.57745E-5
2-97808405-G-A p.Lys276Lys splice_region+synonymous ANKRD36 1 80642 1.24005E-5 40321 0 NA
2-97808506-A-G p.Ser279Gly missense ANKRD36 8 81086 9.86607E-5 40543 1 6.25E-4
2-97808514-G-A p.Lys281Lys synonymous ANKRD36 53 81074 6.53724E-4 40537 0 0.00121027
2-97808516-A-G p.Glu282Gly missense ANKRD36 1 81068 1.23353E-5 40534 0 NA
2-97808533-A-G p.Ile288Val missense ANKRD36 1 81074 1.23344E-5 40537 0 NA
2-97808534-T-C p.Ile288Thr missense ANKRD36 5 81072 6.16736E-5 40536 0 1.98391E-5
2-97808556-A-G p.Gly295Gly synonymous ANKRD36 68 81050 8.38988E-4 40525 1 0.00331273
2-97808569-A-G p.Thr300Ala missense ANKRD36 1 81016 1.23432E-5 40508 0 6.37308E-5
2-97808570-C-T p.Thr300Ile missense+splice_region ANKRD36 4 81012 4.93754E-5 40506 0 4.64792E-5
2-97810254-G-GTCTTCTGAAAACCCTTTGGTTC p.Ser302fs frameshift ANKRD36 1 79746 1.25398E-5 39873 0 NA
2-97810273-C-T p.Pro307Leu missense ANKRD36 10 79836 1.25257E-4 39918 0 2.86807E-4
2-97810276-C-T p.Ala308Val missense ANKRD36 1 79868 1.25207E-5 39934 0 NA
2-97810370-C-T c.931-7C>T splice_region ANKRD36 4 80706 4.95626E-5 40353 0 1.93676E-5
2-97810372-C-T c.931-5C>T splice_region ANKRD36 3 80728 3.71618E-5 40364 0 4.32676E-5
2-97810378-A-G p.Asp311Gly missense+splice_region ANKRD36 1 80788 1.23781E-5 40394 0 3.18674E-5
2-97810384-G-A p.Ser313Asn missense ANKRD36 1 80820 1.23732E-5 40410 0 6.52844E-6
2-97810393-A-T p.Asp316Val missense ANKRD36 1 80864 1.23664E-5 40432 0 NA
2-97810394-T-C p.Asp316Asp synonymous ANKRD36 2 80878 2.47286E-5 40439 0 4.56121E-5
2-97810405-C-T p.Ser320Leu missense ANKRD36 3 80904 3.7081E-5 40452 0 6.47668E-4
2-97810417-C-T p.Thr324Ile missense ANKRD36 1 80936 1.23554E-5 40468 0 NA
2-97810432-AACAAAAATCTGGG-A p.Lys331fs frameshift ANKRD36 19 80892 2.34881E-4 40446 1 6.37349E-5
2-97810446-A-G p.Thr334Ala missense ANKRD36 2 80836 2.47415E-5 40418 0 NA
2-97812242-G-GGC p.Cys342fs frameshift ANKRD36 2 78424 2.55024E-5 39212 0 4.1507E-4
2-97812246-TTA-T p.Leu343fs frameshift ANKRD36 2 78462 2.549E-5 39231 0 3.51348E-4
2-97812251-C-T p.Asn344Asn splice_region+synonymous ANKRD36 1 78440 1.27486E-5 39220 0 6.99624E-6
2-97812251-C-A p.Asn344Lys missense+splice_region ANKRD36 4 78440 5.09944E-5 39220 0 NA
2-97812254-G-C c.1034+1G>C splice_donor ANKRD36 3 78336 3.82966E-5 39168 0 NA
2-97815026-C-T c.1035-6C>T splice_region ANKRD36 2 78906 2.53466E-5 39453 0 NA
2-97815029-T-C c.1035-3T>C splice_region ANKRD36 1 78980 1.26614E-5 39490 0 2.09714E-5
2-97815040-A-G p.Tyr348Cys missense ANKRD36 2 79164 2.5264E-5 39582 0 NA
2-97815041-C-G p.Tyr348* stop_gained ANKRD36 4 79156 5.05331E-5 39578 0 5.1792E-5
2-97815041-C-T p.Tyr348Tyr synonymous ANKRD36 2 79156 2.52666E-5 39578 0 NA
2-97815047-T-G p.Pro350Pro synonymous ANKRD36 1 79250 1.26183E-5 39625 0 6.25206E-4
2-97815058-C-T p.Ala354Val missense ANKRD36 1 79290 1.26119E-5 39645 0 3.20184E-5
2-97815062-G-T p.Gln355His missense ANKRD36 4 79278 5.04554E-5 39639 0 NA
2-97815075-A-G p.Asn360Asp missense ANKRD36 2 79276 2.52283E-5 39638 0 2.6039E-4
2-97815079-A-T p.Glu361Val missense ANKRD36 1 79274 1.26145E-5 39637 0 NA
2-97815084-T-A p.Ser363Thr missense ANKRD36 1 79236 1.26205E-5 39618 0 NA
2-97815089-G-C p.Leu364Phe missense ANKRD36 1 79198 1.26266E-5 39599 0 5.18511E-5
2-97817619-A-G p.Ile369Val missense ANKRD36 2 78874 2.53569E-5 39437 0 3.18593E-5
2-97817623-C-A p.Ser370* stop_gained ANKRD36 1 79072 1.26467E-5 39536 0 NA
2-97817639-A-G p.Pro375Pro synonymous ANKRD36 1 79542 1.2572E-5 39771 0 NA
2-97817661-C-T p.Arg383* stop_gained ANKRD36 249 79470 0.00313326 39735 32 0.345316
2-97817672-A-C p.Lys386Asn missense ANKRD36 4 79854 5.00914E-5 39927 0 1.48978E-5
2-97817677-G-A c.1162+1G>A splice_donor ANKRD36 1 79704 1.25464E-5 39852 0 7.50875E-6
2-97817678-T-C c.1162+2T>C splice_donor ANKRD36 1 79732 1.2542E-5 39866 0 7.48996E-6
2-97817682-T-G c.1162+6T>G splice_region ANKRD36 3 79688 3.76468E-5 39844 0 1.10417E-5
2-97818247-C-T p.Pro390Leu missense ANKRD36 2 76944 2.59929E-5 38472 0 2.35224E-5
2-97818249-C-G p.Pro391Ala missense ANKRD36 51 76960 6.62682E-4 38480 10 8.76168E-4
2-97818249-C-T p.Pro391Ser missense ANKRD36 1 76984 1.29897E-5 38492 0 NA
2-97818255-G-C p.Glu393Gln missense ANKRD36 2 77070 2.59504E-5 38535 1 5.95664E-5
2-97818259-A-G p.Glu394Gly missense ANKRD36 1 77050 1.29786E-5 38525 0 NA
2-97818279-T-C c.1193+8T>C splice_region ANKRD36 91 77094 0.00118038 38547 11 0.0027718
2-97820405-T-C c.1194-7T>C splice_region ANKRD36 1 78162 1.27939E-5 39081 0 NA
2-97820408-G-A c.1194-4G>A splice_region ANKRD36 4 78248 5.11195E-5 39124 2 7.15297E-6
2-97820421-C-T p.Tyr401Tyr synonymous ANKRD36 2 78402 2.55096E-5 39201 1 5.08854E-5
2-97820421-CCT-C p.Leu402fs frameshift ANKRD36 1 78386 1.27574E-5 39193 0 NA
2-97820424-ACTG-A p.Leu403del conservative_inframe_deletion ANKRD36 1 78428 1.27505E-5 39214 0 NA
2-97820431-C-T p.Arg405Cys missense ANKRD36 6 78456 7.6476E-5 39228 1 1.43205E-4
2-97820432-G-A p.Arg405His missense ANKRD36 1 78434 1.27496E-5 39217 0 1.42243E-5
2-97820443-C-G p.Pro409Ala missense ANKRD36 1 78488 1.27408E-5 39244 0 1.00496E-4
2-97820464-G-T p.Ala416Ser missense ANKRD36 12 78432 1.52999E-4 39216 1 2.68528E-4
2-97820465-C-A p.Ala416Asp missense ANKRD36 1 78426 1.27509E-5 39213 0 NA
2-97820472-A-G p.Glu418Glu synonymous ANKRD36 2 78382 2.55161E-5 39191 0 1.00654E-4
2-97820480-T-C c.1260+2T>C splice_donor ANKRD36 1 78280 1.27747E-5 39140 0 4.95246E-5
2-97823840-C-T c.1261-4C>T splice_region ANKRD36 8 80796 9.90148E-5 40398 0 1.38978E-5
2-97823841-T-C c.1261-3T>C splice_region ANKRD36 7 80832 8.65994E-5 40416 0 2.04855E-4
2-97823845-A-G p.Asn421Ser missense+splice_region ANKRD36 1 80908 1.23597E-5 40454 0 NA
2-97823853-G-C p.Glu424Gln missense ANKRD36 818 80964 0.0101033 40482 31 0.0227694
2-97823861-C-A p.Tyr426* stop_gained ANKRD36 3 81034 3.70215E-5 40517 0 NA
2-97823866-C-T p.Thr428Met missense ANKRD36 10 80986 1.23478E-4 40493 0 1.27681E-4
2-97823867-G-A p.Thr428Thr synonymous ANKRD36 2 80998 2.4692E-5 40499 0 5.54827E-4
2-97823871-A-G p.Arg430Gly missense ANKRD36 7 81136 8.62749E-5 40568 0 2.52118E-4
2-97823871-A-C p.Arg430Arg synonymous ANKRD36 2 81138 2.46494E-5 40569 0 6.37877E-5
2-97823876-G-A p.Arg431Arg synonymous ANKRD36 13 81158 1.60181E-4 40579 0 2.23471E-4
2-97823879-T-G p.Thr432Thr synonymous ANKRD36 3 81158 3.69649E-5 40579 0 6.90112E-6
2-97823886-C-T p.Gln435* stop_gained ANKRD36 1 81158 1.23216E-5 40579 0 3.19101E-5
2-97823890-A-T p.Gln436Leu missense ANKRD36 2 81102 2.46603E-5 40551 0 NA
2-97823891-A-G p.Gln436Gln synonymous ANKRD36 1 81082 1.23332E-5 40541 0 1.38263E-5
2-97823894-T-G p.Ser437Ser synonymous ANKRD36 2 81100 2.46609E-5 40550 0 6.92061E-6
2-97823903-T-G p.Asn440Lys missense+splice_region ANKRD36 1 81010 1.23442E-5 40505 0 0.0778061
2-97824323-A-C c.1322-2A>C splice_acceptor ANKRD36 1 80894 1.23619E-5 40447 0 6.92271E-6
2-97824336-T-G p.Cys445Gly missense ANKRD36 2 80934 2.47115E-5 40467 0 6.38937E-5
2-97824338-T-C p.Cys445Cys synonymous ANKRD36 68 80928 8.40253E-4 40464 2 0.00404858
2-97824341-C-T p.Gly446Gly synonymous ANKRD36 1 80946 1.23539E-5 40473 0 NA
2-97824362-A-G p.Gly453Gly synonymous ANKRD36 1 80966 1.23509E-5 40483 0 NA
2-97824378-C-CA p.Asn460fs frameshift ANKRD36 1 80948 1.23536E-5 40474 0 NA
2-97824393-G-GAAGGAAAAGCAC c.1389+1_1389+2insAAGGAAAAGCAC splice_donor ANKRD36 2 80916 2.4717E-5 40458 0 NA
2-97824393-G-A c.1389+1G>A splice_donor ANKRD36 1 80918 1.23582E-5 40459 0 6.92674E-6
2-97827834-A-G c.1390-2A>G splice_acceptor ANKRD36 1 74606 1.34037E-5 37303 0 3.3456E-5
2-97827835-G-A c.1390-1G>A splice_acceptor ANKRD36 1 74768 1.33747E-5 37384 0 NA
2-97827845-G-T p.Ala467Ser missense ANKRD36 1 75064 1.3322E-5 37532 0 NA
2-97827846-C-CTGAT p.Leu468fs frameshift ANKRD36 1 75118 1.33124E-5 37559 0 NA
2-97827848-C-A p.Leu468Ile missense ANKRD36 1 75096 1.33163E-5 37548 0 NA
2-97827849-T-C p.Leu468Pro missense ANKRD36 2 75190 2.65993E-5 37595 0 NA
2-97827863-C-T p.Gln473* stop_gained ANKRD36 1 75142 1.33081E-5 37571 0 6.51593E-5
2-97827869-G-A p.Ala475Thr missense ANKRD36 813 74870 0.0108588 37435 43 0.0144721
2-97827870-C-T p.Ala475Val missense ANKRD36 1 75234 1.32919E-5 37617 0 NA
2-97827872-A-G p.Asn476Asp missense ANKRD36 1 75320 1.32767E-5 37660 0 3.93082E-4
2-97827874-T-C p.Asn476Asn splice_region+synonymous ANKRD36 2 75156 2.66113E-5 37578 0 NA
2-97827877-TA-T c.1429+3delA splice_region ANKRD36 53 75000 7.06667E-4 37500 0 6.14113E-4
2-97827882-G-A c.1429+7G>A splice_region ANKRD36 784 74082 0.0105829 37041 41 0.0166136
2-97827883-T-C c.1429+8T>C splice_region ANKRD36 1 74598 1.34052E-5 37299 0 NA
2-97830018-A-G c.1430-2A>G splice_acceptor ANKRD36 1 79744 1.25401E-5 39872 0 1.46186E-5
2-97830035-C-G p.Pro482Arg missense ANKRD36 24 80052 2.99805E-4 40026 3 4.46999E-4
2-97830035-C-T p.Pro482Leu missense ANKRD36 4 80064 4.996E-5 40032 0 6.18506E-5
2-97830036-G-A p.Pro482Pro synonymous ANKRD36 40 80058 4.99638E-4 40029 1 0.0355009
2-97830048-G-T p.Thr486Thr splice_region+synonymous ANKRD36 1 80494 1.24233E-5 40247 0 NA
2-97830049-G-A c.1458+1G>A splice_donor ANKRD36 1 80544 1.24156E-5 40272 0 7.10187E-6
2-97830055-A-G c.1458+7A>G splice_region ANKRD36 1 80710 1.239E-5 40355 0 1.42337E-5
2-97830132-A-G c.1459-2A>G splice_acceptor ANKRD36 1 81082 1.23332E-5 40541 0 NA
2-97830133-G-A c.1459-1G>A splice_acceptor ANKRD36 1 81082 1.23332E-5 40541 0 NA
2-97830136-T-TA p.Thr488fs frameshift ANKRD36 1 81098 1.23308E-5 40549 0 6.84144E-6
2-97830136-T-A p.His487Gln missense+splice_region ANKRD36 2 81096 2.46621E-5 40548 0 NA
2-97830139-G-T p.Thr488Thr synonymous ANKRD36 1 81102 1.23302E-5 40551 0 NA
2-97830140-G-T p.Val489Leu missense ANKRD36 1 81102 1.23302E-5 40551 0 NA
2-97830141-T-C p.Val489Ala missense ANKRD36 2 81098 2.46615E-5 40549 0 2.05151E-5
2-97830144-AAGAC-A p.Asp491fs frameshift ANKRD36 2 81102 2.46603E-5 40551 0 6.83817E-6
2-97830155-C-G p.His494Asp missense ANKRD36 3 81100 3.69914E-5 40550 0 NA
2-97830161-T-G p.Ser496Ala missense ANKRD36 5 81098 6.16538E-5 40549 0 NA
2-97830175-A-G p.Leu500Leu synonymous ANKRD36 1 81078 1.23338E-5 40539 0 4.9232E-5
2-97830178-A-T p.Gly501Gly synonymous ANKRD36 1 81090 1.2332E-5 40545 0 2.75759E-5
2-97830198-C-G p.Ser508Cys missense ANKRD36 1 81036 1.23402E-5 40518 0 NA
2-97833325-C-T p.Arg515* stop_gained ANKRD36 1 74542 1.34153E-5 37271 0 2.59121E-4
2-97833326-G-A p.Arg515Gln missense ANKRD36 1 74692 1.33883E-5 37346 0 7.01134E-6
2-97833340-A-G p.Thr520Ala missense+splice_region ANKRD36 22 75386 2.91831E-4 37693 0 0.00632911
2-97833341-C-T p.Thr520Met missense+splice_region ANKRD36 2 75628 2.64452E-5 37814 0 3.18431E-5
2-97833342-G-A p.Thr520Thr splice_region+synonymous ANKRD36 4 75728 5.28206E-5 37864 0 0.500469
2-97833436-C-T p.Thr522Ile missense ANKRD36 1 79084 1.26448E-5 39542 0 3.1841E-5
2-97833484-A-T p.Asp538Val missense ANKRD36 2 76192 2.62495E-5 38096 0 NA
2-97833495-C-A p.Pro542Thr missense ANKRD36 2 74566 2.68219E-5 37283 1 NA
2-97833503-A-G p.Lys544Lys splice_region+synonymous ANKRD36 1 74022 1.35095E-5 37011 0 NA
2-97833509-AT-A c.1633+6delT splice_region ANKRD36 1 74388 1.3443E-5 37194 0 NA
2-97833509-A-AT c.1633+5_1633+6insT splice_region ANKRD36 2 74388 2.68861E-5 37194 0 8.78889E-5
2-97845472-C-A c.1634-3C>A splice_region ANKRD36 1 76202 1.3123E-5 38101 0 NA
2-97845473-A-G c.1634-2A>G splice_acceptor ANKRD36 21 76142 2.758E-4 38071 0 0.00313984
2-97845474-G-T c.1634-1G>T splice_acceptor ANKRD36 1 76174 1.31278E-5 38087 0 NA
2-97845480-T-C p.Ser547Pro missense ANKRD36 2 76040 2.63019E-5 38020 0 9.57549E-5
2-97845487-A-C p.Lys549Thr missense ANKRD36 4 76292 5.24301E-5 38146 0 3.83019E-4
2-97845493-C-G p.Pro551Arg missense ANKRD36 1 76486 1.30743E-5 38243 0 6.61673E-6
2-97845502-A-G p.Lys554Arg missense+splice_region ANKRD36 1 76806 1.30198E-5 38403 0 NA
2-97845600-T-C p.Ala555Ala splice_region+synonymous ANKRD36 1 80080 1.24875E-5 40040 0 NA
2-97845609-C-T p.Asp558Asp synonymous ANKRD36 3 80056 3.74738E-5 40028 0 7.31134E-4
2-97845610-G-A p.Asp559Asn missense ANKRD36 8 80032 9.996E-5 40016 0 6.25782E-4
2-97845630-T-C p.Asn565Asn synonymous ANKRD36 1 80148 1.24769E-5 40074 0 4.14288E-6
2-97845636-CA-C p.Thr568fs frameshift ANKRD36 2 80150 2.49532E-5 40075 0 NA
2-97845648-G-A p.Lys571Lys synonymous ANKRD36 1 80060 1.24906E-5 40030 0 NA
2-97845653-G-A p.Gly573Glu missense ANKRD36 23 79976 2.87586E-4 39988 0 5.10465E-4
2-97845658-A-G p.Ile575Val missense ANKRD36 1 79964 1.25056E-5 39982 0 NA
2-97845659-T-C p.Ile575Thr missense ANKRD36 2 79960 2.50125E-5 39980 0 6.37674E-5
2-97845662-C-T p.Ser576Phe missense ANKRD36 1 79960 1.25063E-5 39980 0 NA
2-97845662-C-A p.Ser576Tyr missense ANKRD36 3 79960 3.75188E-5 39980 0 6.14251E-4
2-97845667-A-C p.Thr578Pro missense ANKRD36 1 79944 1.25088E-5 39972 0 8.63543E-6
2-97845671-G-GT c.1735+1_1735+2insT splice_donor ANKRD36 2 79960 2.50125E-5 39980 0 1.72709E-5
2-97847452-A-C c.1765-6A>C splice_region ANKRD36 1 80282 1.24561E-5 40141 0 NA
2-97847469-C-T p.Asp592Asp synonymous ANKRD36 4 80296 4.98157E-5 40148 0 0.0025
2-97847470-G-A p.Glu593Lys missense ANKRD36 2 80342 2.48936E-5 40171 0 0.00110396
2-97847509-A-G p.Lys606Glu missense ANKRD36 40 79912 5.00551E-4 39956 0 0.0118108
2-97847518-C-A p.Gln609Lys missense ANKRD36 2 80458 2.48577E-5 40229 0 4.13609E-6
2-97847520-A-G p.Gln609Gln synonymous ANKRD36 2 80408 2.48731E-5 40204 1 NA
2-97847522-C-G p.Ser610Cys missense ANKRD36 1 80378 1.24412E-5 40189 0 6.41396E-5
2-97849194-A-G c.1838-2A>G splice_acceptor ANKRD36 1 79904 1.2515E-5 39952 0 3.19163E-5
2-97849199-C-T p.Ser614Phe missense ANKRD36 2 79920 2.5025E-5 39960 0 NA
2-97849204-C-T p.Gln616* stop_gained ANKRD36 31 79946 3.87762E-4 39973 1 0.00496278
2-97849211-A-C p.Gln618Pro missense ANKRD36 1 79940 1.25094E-5 39970 0 5.28681E-6
2-97849214-C-T p.Ser619Leu missense ANKRD36 2 79932 2.50213E-5 39966 0 2.65375E-4
2-97849215-G-A p.Ser619Ser synonymous ANKRD36 3 79922 3.75366E-5 39961 0 0.00185414
2-97849219-T-C p.Trp621Arg missense ANKRD36 48776 76370 0.63868 38185 16970 0.648385
2-97849219-T-G p.Trp621Gly missense ANKRD36 2 79944 2.50175E-5 39972 0 NA
2-97849220-G-A p.Trp621* stop_gained ANKRD36 19 79908 2.37773E-4 39954 0 0.00202156
2-97849312-C-G c.1867-7C>G splice_region ANKRD36 2 80154 2.4952E-5 40077 0 NA
2-97849319-G-T p.Val623Phe missense+splice_region ANKRD36 17 80158 2.12081E-4 40079 0 1.41737E-4
2-97849322-A-G p.Ile624Val missense ANKRD36 2 80164 2.49489E-5 40082 0 NA
2-97849327-TA-T p.Lys627fs frameshift ANKRD36 3 80162 3.74242E-5 40081 0 NA
2-97849327-T-TA p.Lys628fs frameshift ANKRD36 1 80162 1.24747E-5 40081 0 NA
2-97849354-T-G p.Ile634Met missense ANKRD36 1 80130 1.24797E-5 40065 0 NA
2-97849363-A-G p.Arg637Arg synonymous ANKRD36 1 80144 1.24775E-5 40072 0 5.02942E-6
2-97849368-T-G p.Met639Arg missense ANKRD36 1 80144 1.24775E-5 40072 0 NA
2-97849372-T-C p.Gly640Gly synonymous ANKRD36 39 79908 4.88061E-4 39954 1 0.00306788
2-97849386-G-C p.Gly645Ala missense ANKRD36 1 80048 1.24925E-5 40024 0 5.20638E-6
2-97849395-A-G c.1939+4A>G splice_region ANKRD36 1 80006 1.24991E-5 40003 0 5.44283E-6
2-97851052-G-A c.1940-1G>A splice_acceptor ANKRD36 8 80190 9.97631E-5 40095 0 3.19346E-5
2-97851062-A-G p.Gln650Arg missense ANKRD36 2 80368 2.48855E-5 40184 0 9.56633E-5
2-97851069-A-G p.Gln652Gln synonymous ANKRD36 45137 71694 0.629578 35847 15716 0.608352
2-97851167-A-G c.1969-8A>G splice_region ANKRD36 1 80740 1.23854E-5 40370 0 NA
2-97851188-A-G p.Lys661Arg missense ANKRD36 1 80940 1.23548E-5 40470 0 NA
2-97851209-T-C p.Ile668Thr missense ANKRD36 1 81074 1.23344E-5 40537 0 5.1835E-5
2-97851214-A-G p.Thr670Ala missense ANKRD36 1 81108 1.23292E-5 40554 0 NA
2-97851230-G-C p.Gly675Ala missense ANKRD36 5 81148 6.16158E-5 40574 0 1.18343E-4
2-97851230-G-T p.Gly675Val missense ANKRD36 2 81148 2.46463E-5 40574 0 9.72176E-6
2-97851234-A-G p.Leu676Leu synonymous ANKRD36 1 81156 1.23219E-5 40578 0 NA
2-97851237-G-A p.Gln677Gln synonymous ANKRD36 1 81160 1.23213E-5 40580 0 1.36463E-4
2-97851246-A-G p.Thr680Thr splice_region+synonymous ANKRD36 1 81148 1.23232E-5 40574 0 4.07378E-6
2-97851254-T-G c.2041+7T>G splice_region ANKRD36 6 81160 7.3928E-5 40580 0 1.22725E-5
2-97852931-T-G c.2042-4T>G splice_region ANKRD36 1 79918 1.25128E-5 39959 0 NA
2-97852933-A-C c.2042-2A>C splice_acceptor ANKRD36 1 79914 1.25135E-5 39957 0 8.44559E-6
2-97852933-A-G c.2042-2A>G splice_acceptor ANKRD36 2 79916 2.50263E-5 39958 0 8.44559E-6
2-97852934-G-T c.2042-1G>T splice_acceptor ANKRD36 9 79918 1.12615E-4 39959 0 6.64894E-4
2-97852934-G-A c.2042-1G>A splice_acceptor ANKRD36 1 79922 1.25122E-5 39961 0 3.19101E-5
2-97852935-T-C p.Val681Ala missense+splice_region ANKRD36 1 79934 1.25103E-5 39967 0 1.20578E-5
2-97852938-C-T p.Ser682Phe missense ANKRD36 6 79948 7.50488E-5 39974 0 1.57256E-4
2-97852944-A-C p.Gln684Pro missense ANKRD36 2 79986 2.50044E-5 39993 0 3.1902E-5
2-97852953-C-A p.Pro687Gln missense ANKRD36 2 80008 2.49975E-5 40004 0 1.42621E-5
2-97852956-C-T p.Ala688Val missense ANKRD36 209 79932 0.00261472 39966 13 0.015532
2-97853063-C-A c.2071-3C>A splice_region ANKRD36 2 80224 2.49302E-5 40112 0 NA
2-97853065-G-C c.2071-1G>C splice_acceptor ANKRD36 1 80264 1.24589E-5 40132 0 1.24843E-5
2-97853066-G-A p.Ala691Thr missense+splice_region ANKRD36 50 80248 6.23068E-4 40124 0 4.0034E-4
2-97853072-A-G p.Thr693Ala missense ANKRD36 2 80288 2.49103E-5 40144 0 6.37633E-5
2-97853073-C-T p.Thr693Ile missense ANKRD36 2 80286 2.49109E-5 40143 0 NA
2-97853077-C-T p.Asp694Asp synonymous ANKRD36 3 80314 3.73534E-5 40157 0 6.29723E-4
2-97853080-G-C p.Glu695Asp missense ANKRD36 1 80352 1.24452E-5 40176 0 NA
2-97853085-ACT-A p.Ser698fs frameshift ANKRD36 1 80372 1.24421E-5 40186 0 2.27718E-5
2-97853086-C-T p.Asp697Asp synonymous ANKRD36 8 80364 9.95471E-5 40182 0 6.28141E-4
2-97853087-T-C p.Ser698Pro missense ANKRD36 4 80394 4.9755E-5 40197 0 3.40739E-5
2-97853089-T-C p.Ser698Ser synonymous ANKRD36 1 80402 1.24375E-5 40201 0 NA
2-97853094-C-T p.Ser700Leu missense ANKRD36 3 80418 3.73051E-5 40209 0 6.28141E-4
2-97853095-G-T p.Ser700Ser synonymous ANKRD36 2 80414 2.48713E-5 40207 0 1.13766E-4
2-97853107-A-C p.Thr704Thr synonymous ANKRD36 1 80440 1.24316E-5 40220 0 3.49544E-5
2-97853112-T-A p.Ile706Lys missense ANKRD36 1 80436 1.24322E-5 40218 0 1.19121E-5
2-97853132-G-C p.Gly713Arg missense ANKRD36 1 80406 1.24369E-5 40203 0 NA
2-97853140-T-C c.2143+2T>C splice_donor ANKRD36 1 80310 1.24517E-5 40155 0 1.34253E-5
2-97854837-G-A p.Lys719Lys synonymous ANKRD36 5 44716 1.11817E-4 22358 2 7.76398E-4
2-97854949-A-T c.2173-6A>T splice_region ANKRD36 2 45096 4.43498E-5 22548 1 4.79409E-5
2-97854952-A-C c.2173-3A>C splice_region ANKRD36 121 45114 0.00268209 22557 45 0.00457875
2-97854954-G-C c.2173-1G>C splice_acceptor ANKRD36 5 45140 1.10767E-4 22570 2 2.38129E-5
2-97854966-C-T p.Asp728Asp synonymous ANKRD36 8 45154 1.77171E-4 22577 1 2.83809E-4
2-97854976-T-C p.Ser732Pro missense ANKRD36 17 45190 3.76189E-4 22595 5 0.00188857
2-97855028-G-A c.2245+1G>A splice_donor ANKRD36 14 45066 3.10655E-4 22533 5 3.18299E-5
2-97856713-A-AGT c.2246-2_2246-1insGT splice_acceptor ANKRD36 3 80052 3.74756E-5 40026 0 1.7057E-5
2-97856714-G-A c.2246-1G>A splice_acceptor ANKRD36 4 80044 4.99725E-5 40022 0 3.23269E-5
2-97856720-T-C p.Ser751Pro missense ANKRD36 1 80044 1.24931E-5 40022 0 8.54044E-6
2-97856724-AG-A p.Lys753fs frameshift ANKRD36 2 80058 2.49819E-5 40029 0 4.04907E-6
2-97856728-A-G p.Lys753Lys synonymous ANKRD36 10 80052 1.24919E-4 40026 0 0.00122549
2-97856729-C-T p.Gln754* stop_gained ANKRD36 1 80056 1.24913E-5 40028 0 NA
2-97856736-C-G p.Ala756Gly missense ANKRD36 1 80038 1.24941E-5 40019 0 8.63618E-6
2-97856737-C-G p.Ala756Ala synonymous ANKRD36 1 80044 1.24931E-5 40022 0 8.64977E-6
2-97856743-G-A p.Lys758Lys synonymous ANKRD36 1 80034 1.24947E-5 40017 0 NA
2-97856843-C-A c.2275-3C>A splice_region ANKRD36 2 80082 2.49744E-5 40041 0 4.03117E-5
2-97856846-G-A p.Ala759Thr missense+splice_region ANKRD36 1 80098 1.24847E-5 40049 0 1.34532E-5
2-97856851-A-C p.Thr760Thr synonymous ANKRD36 2 80132 2.49588E-5 40066 0 NA
2-97856856-A-C p.Asp762Ala missense ANKRD36 8 80164 9.97954E-5 40082 0 6.7331E-5
2-97856863-AG-A p.Asp765fs frameshift ANKRD36 2 80200 2.49377E-5 40100 0 2.69455E-5
2-97856867-T-C p.Ser766Pro missense ANKRD36 1 80216 1.24663E-5 40108 0 1.35175E-5
2-97856875-G-A p.Ser768Ser synonymous ANKRD36 71 80222 8.85044E-4 40111 0 0.00150169
2-97856878-C-T p.Asn769Asn synonymous ANKRD36 1 80240 1.24626E-5 40120 0 4.10869E-4
2-97856878-C-G p.Asn769Lys missense ANKRD36 26 80240 3.24028E-4 40120 1 0.00131478
2-97856882-G-C p.Ala771Pro missense ANKRD36 2 80248 2.49227E-5 40124 0 NA
2-97856897-G-A p.Asp776Asn missense ANKRD36 1 80248 1.24614E-5 40124 0 1.46964E-5
2-97856921-A-C c.2347+3A>C splice_region ANKRD36 1 80148 1.24769E-5 40074 0 NA
2-97858588-T-G c.2348-7T>G splice_region ANKRD36 1 79924 1.25119E-5 39962 0 8.61134E-6
2-97858594-G-A c.2348-1G>A splice_acceptor ANKRD36 1 79956 1.25069E-5 39978 0 NA
2-97858603-C-G p.Gln786Glu missense ANKRD36 1 79994 1.25009E-5 39997 0 8.66822E-6
2-97858609-C-A p.Pro788Thr missense ANKRD36 1 80016 1.24975E-5 40008 0 8.23873E-6
2-97858610-C-A p.Pro788Gln missense ANKRD36 5 80020 6.24844E-5 40010 0 6.04595E-4
2-97858612-C-A p.Pro789Thr missense ANKRD36 1 80054 1.24916E-5 40027 0 6.38774E-5
2-97858616-C-T p.Ala790Val missense ANKRD36 1 80056 1.24913E-5 40028 0 NA
2-97858619-T-G p.Leu791Trp missense ANKRD36 2 80074 2.49769E-5 40037 0 8.91424E-6
2-97858622-C-A p.Thr792Lys missense ANKRD36 4 79706 5.01844E-5 39853 0 0.00193548
2-97858622-C-T p.Thr792Met missense ANKRD36 2 80072 2.49775E-5 40036 0 3.23039E-5
2-97858623-G-A p.Thr792Thr synonymous ANKRD36 4 80086 4.99463E-5 40043 0 5.38397E-5
2-97858623-G-T p.Thr792Thr synonymous ANKRD36 1 80086 1.24866E-5 40043 0 8.26453E-6
2-97858625-TA-T c.2376+3delA splice_region ANKRD36 1 80118 1.24816E-5 40059 0 9.02625E-6
2-97858628-T-C c.2376+5T>C splice_region ANKRD36 6 79728 7.52559E-5 39864 0 0.00216269
2-97858719-C-T p.Ala793Val missense+splice_region ANKRD36 12 80816 1.48485E-4 40408 1 1.77069E-4
2-97858726-T-A p.Ser795Arg missense ANKRD36 1 80840 1.23701E-5 40420 0 NA
2-97858729-C-T p.Asp796Asp synonymous ANKRD36 3 80636 3.72042E-5 40318 0 0.00180545
2-97858731-AG-A p.Glu798fs frameshift ANKRD36 1 80828 1.2372E-5 40414 0 NA
2-97858737-G-A p.Gly799Asp missense ANKRD36 2 80682 2.47887E-5 40341 0 0.00177682
2-97858750-T-A p.Ser803Arg missense ANKRD36 1 80762 1.23821E-5 40381 0 NA
2-97858752-T-C p.Ile804Thr missense ANKRD36 2 80728 2.47746E-5 40364 0 7.75274E-5
2-97858763-A-G p.Asn808Asp missense ANKRD36 1 80620 1.24039E-5 40310 0 NA
2-97858768-G-C p.Lys809Asn missense ANKRD36 2 80572 2.48225E-5 40286 0 3.01477E-5
2-97858774-A-C p.Gly811Gly synonymous ANKRD36 1 80518 1.24196E-5 40259 0 NA
2-97858797-T-C c.2449+7T>C splice_region ANKRD36 1 80178 1.24722E-5 40089 0 NA
2-97860456-T-A c.2450-7T>A splice_region ANKRD36 1 80092 1.24856E-5 40046 0 NA
2-97860462-G-T c.2450-1G>T splice_acceptor ANKRD36 1 80108 1.24831E-5 40054 0 NA
2-97860471-C-T p.Arg820Trp missense ANKRD36 246 80100 0.00307116 40050 13 0.0116628
2-97860472-G-A p.Arg820Gln missense ANKRD36 8 80130 9.98378E-5 40065 0 2.58183E-4
2-97860473-GA-G p.Lys822fs frameshift ANKRD36 29 80126 3.6193E-4 40063 0 4.72781E-4
2-97860473-G-GA p.Pro823fs frameshift ANKRD36 1 80140 1.24782E-5 40070 0 2.58641E-5
2-97860480-C-G p.Pro823Ala missense ANKRD36 3 80168 3.74214E-5 40084 0 5.62868E-5
2-97860480-C-A p.Pro823Thr missense ANKRD36 2 80166 2.49482E-5 40083 0 3.4638E-5
2-97860481-C-T p.Pro823Leu missense ANKRD36 2 80174 2.49457E-5 40087 0 4.3346E-6
2-97860483-G-T p.Ala824Ser missense ANKRD36 3 80174 3.74186E-5 40087 0 6.64894E-4
2-97860487-T-C p.Leu825Ser missense ANKRD36 18735 50320 0.372317 25160 644 0.430407
2-97860488-G-A p.Leu825Leu synonymous ANKRD36 13 80174 1.62147E-4 40087 0 1.5953E-4
2-97860489-A-G p.Lys826Glu missense ANKRD36 3 80180 3.74158E-5 40090 0 6.64894E-4
2-97860493-TA-T c.2478+3delA splice_region ANKRD36 1 80202 1.24685E-5 40101 0 4.53157E-6
2-97860494-A-G c.2478+3A>G splice_region ANKRD36 5 80200 6.23441E-5 40100 0 1.36365E-5
2-97860496-T-A c.2478+5T>A splice_region ANKRD36 1 80202 1.24685E-5 40101 0 1.35777E-5
2-97860498-A-T c.2478+7A>T splice_region ANKRD36 2 80208 2.49352E-5 40104 0 NA
2-97860575-C-G c.2479-7C>G splice_region ANKRD36 20 80218 2.49321E-4 40109 0 4.14409E-4
2-97860577-C-T c.2479-5C>T splice_region ANKRD36 2 80234 2.49271E-5 40117 0 6.92641E-5
2-97860578-T-G c.2479-4T>G splice_region ANKRD36 1 80244 1.2462E-5 40122 0 4.52845E-6
2-97860580-A-C c.2479-2A>C splice_acceptor ANKRD36 3 80244 3.7386E-5 40122 0 3.72222E-4
2-97860581-G-A c.2479-1G>A splice_acceptor ANKRD36 132 80170 0.0016465 40085 0 0.00163893
2-97860584-T-C p.Ala827Ala splice_region+synonymous ANKRD36 1 80246 1.24617E-5 40123 0 NA
2-97860585-A-G p.Thr828Ala missense ANKRD36 1 80248 1.24614E-5 40124 0 4.62372E-6
2-97860589-G-T p.Ser829Ile missense ANKRD36 1 80248 1.24614E-5 40124 0 NA
2-97860595-A-G p.Glu831Gly missense ANKRD36 1 80244 1.2462E-5 40122 0 NA
2-97860599-G-A p.Lys832Lys synonymous ANKRD36 1 80238 1.24629E-5 40119 0 NA
2-97860601-A-G p.Asp833Gly missense ANKRD36 1 80242 1.24623E-5 40121 0 2.1332E-5
2-97860603-T-A p.Ser834Thr missense ANKRD36 15 80232 1.86958E-4 40116 0 5.09944E-4
2-97860610-C-T p.Ser836Leu missense ANKRD36 8 80224 9.97208E-5 40112 0 1.89385E-4
2-97860611-G-A p.Ser836Ser synonymous ANKRD36 4 80222 4.98616E-5 40111 0 0.0013369
2-97860615-A-G p.Ile838Val missense ANKRD36 1 80228 1.24645E-5 40114 0 NA
2-97860619-C-A p.Thr839Asn missense ANKRD36 1 80222 1.24654E-5 40111 0 9.59509E-5
2-97860626-A-G p.Gly841Gly synonymous ANKRD36 2 80232 2.49277E-5 40116 0 5.51767E-6
2-97860648-A-T p.Arg849Trp missense ANKRD36 1 80234 1.24635E-5 40117 0 3.6406E-5
2-97860651-A-C p.Lys850Gln missense ANKRD36 1 80234 1.24635E-5 40117 0 NA
2-97860652-A-C p.Lys850Thr missense+splice_region ANKRD36 4 80214 4.98666E-5 40107 0 2.232E-4
2-97860658-A-G c.2551+4A>G splice_region ANKRD36 1 80224 1.24651E-5 40112 0 6.35437E-6
2-97860659-T-A c.2551+5T>A splice_region ANKRD36 1 80226 1.24648E-5 40113 0 NA
2-97860661-T-A c.2551+7T>A splice_region ANKRD36 1 80228 1.24645E-5 40114 0 NA
2-97862335-T-G p.Ser853Ala missense ANKRD36 1 81026 1.23417E-5 40513 0 NA
2-97862341-A-C p.Lys855Gln missense ANKRD36 1 81074 1.23344E-5 40537 0 8.87658E-6
2-97862345-C-A p.Pro856Gln missense ANKRD36 2 81100 2.46609E-5 40550 0 NA
2-97862348-C-T p.Pro857Leu missense ANKRD36 2 81110 2.46579E-5 40555 0 5.5677E-4
2-97862348-C-A p.Pro857Gln missense ANKRD36 2 81110 2.46579E-5 40555 0 3.18756E-5
2-97862350-A-G p.Thr858Ala missense ANKRD36 8 81118 9.86218E-5 40559 0 1.70402E-4
2-97862350-A-C p.Thr858Pro missense ANKRD36 1 81120 1.23274E-5 40560 0 NA
2-97862351-C-T p.Thr858Ile missense ANKRD36 7 81118 8.6294E-5 40559 0 3.58301E-5
2-97862361-A-G c.2580+3A>G splice_region ANKRD36 1 81140 1.23244E-5 40570 0 1.81173E-5
2-97862362-A-T c.2580+4A>T splice_region ANKRD36 1 81146 1.23235E-5 40573 0 5.41572E-5
2-97862362-A-G c.2580+4A>G splice_region ANKRD36 1 81146 1.23235E-5 40573 0 NA
2-97862366-A-T c.2580+8A>T splice_region ANKRD36 1 81154 1.23223E-5 40577 0 NA
2-97862445-C-G c.2581-8C>G splice_region ANKRD36 1 81170 1.23198E-5 40585 0 1.6449E-5
2-97862447-A-T c.2581-6A>T splice_region ANKRD36 49 81142 6.0388E-4 40571 0 0.00112854
2-97862447-A-G c.2581-6A>G splice_region ANKRD36 1 81168 1.23201E-5 40584 0 2.82135E-5
2-97862454-G-A p.Gly861Asp missense+splice_region ANKRD36 7 81160 8.62494E-5 40580 0 6.37349E-5
2-97862454-G-C p.Gly861Ala missense+splice_region ANKRD36 2 81164 2.46415E-5 40582 0 1.20926E-4
2-97862457-C-A p.Thr862Lys missense ANKRD36 1 81166 1.23204E-5 40583 0 5.6764E-6
2-97862458-A-C p.Thr862Thr synonymous ANKRD36 1 81170 1.23198E-5 40585 0 6.14251E-4
2-97862461-T-G p.Ser863Arg missense ANKRD36 6 81174 7.39153E-5 40587 0 0.00123001
2-97862464-C-T p.Asp864Asp synonymous ANKRD36 3 81172 3.69586E-5 40586 0 6.25782E-4
2-97862465-G-A p.Glu865Lys missense ANKRD36 3 81176 3.69567E-5 40588 0 0.00184275
2-97862465-G-C p.Glu865Gln missense ANKRD36 3 81174 3.69576E-5 40587 0 1.16515E-5
2-97862469-A-C p.Glu866Ala missense ANKRD36 1 81180 1.23183E-5 40590 0 3.18674E-5
2-97862483-G-A p.Gly871Ser missense ANKRD36 3 81184 3.69531E-5 40592 0 7.48167E-5
2-97862486-A-G p.Ile872Val missense ANKRD36 79 81156 9.73434E-4 40578 0 0.00162583
2-97862490-C-T p.Ala873Val missense ANKRD36 1 81182 1.2318E-5 40591 0 NA
2-97862519-A-C p.Arg883Arg synonymous ANKRD36 1 81170 1.23198E-5 40585 0 6.41964E-6
2-97862521-G-A p.Arg883Arg synonymous ANKRD36 1 81168 1.23201E-5 40584 0 6.41956E-6
2-97862525-G-C p.Val885Leu missense+splice_region ANKRD36 1 81158 1.23216E-5 40579 0 6.43434E-6
2-97862532-C-T c.2653+7C>T splice_region ANKRD36 17 81078 2.09675E-4 40539 0 0.0013079
2-97864198-A-T c.2654-2A>T splice_acceptor ANKRD36 2 80184 2.49426E-5 40092 0 3.18837E-5
2-97864199-G-A c.2654-1G>A splice_acceptor ANKRD36 1 80184 1.24713E-5 40092 0 2.40848E-5
2-97864208-G-C p.Glu888Gln missense ANKRD36 72 80132 8.98517E-4 40066 0 0.00315389
2-97864213-AC-A p.Pro890fs frameshift ANKRD36 1 80200 1.24688E-5 40100 0 2.64639E-4
2-97864217-C-T p.Pro891Ser missense ANKRD36 1 80190 1.24704E-5 40095 0 6.37714E-5
2-97864219-A-G p.Pro891Pro synonymous ANKRD36 1 80198 1.24691E-5 40099 0 1.93498E-4
2-97864221-G-A p.Gly892Asp missense ANKRD36 3 80198 3.74074E-5 40099 0 NA
2-97864230-T-C c.2682+2T>C splice_donor ANKRD36 2 80182 2.49433E-5 40091 0 5.00786E-6
2-97864234-G-T c.2682+6G>T splice_region ANKRD36 1 80186 1.2471E-5 40093 0 NA
2-97864315-C-G c.2683-8C>G splice_region ANKRD36 85 79828 0.00106479 39914 0 0.00354429
2-97864331-T-A p.Ser897Arg missense ANKRD36 7 79898 8.76117E-5 39949 0 6.04752E-4
2-97864333-C-A p.Ala898Asp missense ANKRD36 35268 55894 0.63098 27947 13302 0.635022
2-97864333-CC-AT p.Ala898Asp missense ANKRD36 70 79726 8.78007E-4 39863 33 NA
2-97864334-C-T p.Ala898Ala synonymous ANKRD36 35029 55590 0.630131 27795 13216 0.63512
2-97864341-G-T p.Asp901Tyr missense ANKRD36 1 79826 1.25272E-5 39913 0 9.06372E-5
2-97864344-T-G p.Ser902Ala missense ANKRD36 1 79820 1.25282E-5 39910 0 NA
2-97864347-G-T p.Val903Phe missense ANKRD36 3 79798 3.75949E-5 39899 0 6.37674E-5
2-97864350-T-G p.Leu904Val missense ANKRD36 1 79780 1.25345E-5 39890 0 2.75179E-4
2-97864352-G-A p.Leu904Leu synonymous ANKRD36 1 79760 1.25376E-5 39880 0 NA
2-97864354-A-G p.Asn905Ser missense ANKRD36 9 79738 1.1287E-4 39869 0 0.0020339
2-97864357-T-G p.Ile906Arg missense ANKRD36 4 79720 5.01756E-5 39860 0 3.82746E-5
2-97864372-A-C p.Lys911Thr missense ANKRD36 2 79612 2.51218E-5 39806 0 NA
2-97864374-G-T p.Asp912Tyr missense ANKRD36 16667 34300 0.485918 17150 5557 0.635041
2-97864376-T-C p.Asp912Asp synonymous ANKRD36 3 79582 3.7697E-5 39791 0 1.35043E-4
2-97864379-AG-A p.Glu914fs frameshift ANKRD36 2 79576 2.51332E-5 39788 1 5.04796E-5
2-97864380-GAA-G p.Lys915fs frameshift ANKRD36 2 79554 2.51402E-5 39777 0 NA
2-97864381-A-C p.Glu914Ala missense ANKRD36 1 79548 1.2571E-5 39774 0 NA
2-97864386-A-C p.Thr916Pro missense ANKRD36 2 79492 2.51598E-5 39746 0 NA
2-97864386-A-T p.Thr916Ser missense ANKRD36 2 79494 2.51591E-5 39747 0 6.45136E-6
2-97864390-A-G p.Lys917Arg missense ANKRD36 4 79444 5.03499E-5 39722 0 1.03295E-4
2-97864392-A-T p.Arg918* stop_gained ANKRD36 1 79416 1.25919E-5 39708 0 NA
2-97864393-G-C p.Arg918Thr missense+splice_region ANKRD36 4 79380 5.03905E-5 39690 0 1.04373E-4
2-97864397-T-C c.2755+2T>C splice_donor ANKRD36 31 79266 3.91088E-4 39633 0 0.00115911
2-97866069-A-G c.2756-2A>G splice_acceptor ANKRD36 2 80170 2.4947E-5 40085 0 1.22276E-5
2-97866071-T-C p.Val919Ala missense+splice_region ANKRD36 1 80176 1.24726E-5 40088 0 NA
2-97866075-T-C p.Ser920Ser synonymous ANKRD36 2 80182 2.49433E-5 40091 0 6.00962E-4
2-97866081-G-A p.Arg922Arg synonymous ANKRD36 1 80202 1.24685E-5 40101 0 4.086E-6
2-97866082-A-G p.Lys923Glu missense ANKRD36 7 80204 8.72774E-5 40102 0 6.01685E-4
2-97866088-C-A p.Pro925Thr missense ANKRD36 152 80056 0.00189867 40028 0 0.00480769
2-97866090-A-G p.Pro925Pro synonymous ANKRD36 4 80234 4.98542E-5 40117 0 4.08904E-6
2-97866091-T-G p.Ser926Ala missense ANKRD36 78 80022 9.74732E-4 40011 1 0.00471999
2-97866092-C-G p.Ser926Cys missense ANKRD36 2 80232 2.49277E-5 40116 0 8.55125E-6
2-97866093-C-A p.Ser926Ser synonymous ANKRD36 1 80234 1.24635E-5 40117 0 NA
2-97866095-T-C p.Leu927Ser missense ANKRD36 72 80038 8.99573E-4 40019 1 0.00465591
2-97866095-T-G p.Leu927Trp missense ANKRD36 1 80234 1.24635E-5 40117 0 4.28919E-5
2-97866095-TGG-CGA p.LeuGlu927SerLys missense ANKRD36 3 80234 3.73906E-5 40117 0 NA
2-97866097-G-A p.Glu928Lys missense ANKRD36 54 79984 6.75135E-4 39992 1 0.00468959
2-97866097-G-T p.Glu928* stop_gained ANKRD36 1 80232 1.24639E-5 40116 0 7.79519E-5
2-97866098-A-G p.Glu928Gly missense ANKRD36 5 80232 6.23193E-5 40116 0 3.44181E-5
2-97866100-G-T c.2784+1G>T splice_donor ANKRD36 2 80236 2.49265E-5 40118 0 NA
2-97866102-A-G c.2784+3A>G splice_region ANKRD36 1 80238 1.24629E-5 40119 0 4.1024E-6
2-97866105-G-T c.2784+6G>T splice_region ANKRD36 1 80242 1.24623E-5 40121 0 NA
2-97866179-ATTCCAT-A c.2785-10_2785-5delTTCCAT splice_region ANKRD36 2 80230 2.49283E-5 40115 0 NA
2-97866188-A-AATTT c.2785-2_2785-1insATTT splice_acceptor ANKRD36 1 80226 1.24648E-5 40113 0 NA
2-97866189-G-GTT p.Ala929fs frameshift ANKRD36 1 80226 1.24648E-5 40113 0 NA
2-97866190-G-T p.Ala929Ser missense+splice_region ANKRD36 1 80232 1.24639E-5 40116 0 NA
2-97866191-C-CAATTCTCAT p.Ala929_Thr930insIleLeuIle disruptive_inframe_insertion ANKRD36 1 80228 1.24645E-5 40114 0 NA
2-97866193-A-G p.Thr930Ala missense ANKRD36 61 80192 7.60674E-4 40096 0 0.00120773
2-97866200-A-G p.Asp932Gly missense ANKRD36 1 80226 1.24648E-5 40113 0 NA
2-97866201-T-C p.Asp932Asp synonymous ANKRD36 1 80222 1.24654E-5 40111 0 NA
2-97866207-G-A p.Lys934Lys synonymous ANKRD36 14 80174 1.7462E-4 40087 0 2.93999E-4
2-97866208-G-T p.Asp935Tyr missense ANKRD36 1 80220 1.24657E-5 40110 0 NA
2-97866213-T-A p.Ser936Ser synonymous ANKRD36 6 80218 7.47962E-5 40109 0 1.27527E-4
2-97866214-T-C p.Phe937Leu missense ANKRD36 2 80206 2.49358E-5 40103 0 6.69882E-5
2-97866218-C-T p.Ser938Leu missense ANKRD36 1 80210 1.24673E-5 40105 0 6.69344E-4
2-97866225-A-C p.Ile940Ile synonymous ANKRD36 1 80220 1.24657E-5 40110 0 NA
2-97866227-C-A p.Thr941Asn missense ANKRD36 2 80216 2.49327E-5 40108 0 NA
2-97866229-A-G p.Arg942Gly missense ANKRD36 1 80226 1.24648E-5 40113 0 NA
2-97866232-GA-G p.Lys945fs frameshift ANKRD36 1 80234 1.24635E-5 40117 0 2.54303E-5
2-97866233-A-G p.Glu943Gly missense ANKRD36 45 80206 5.61055E-4 40103 1 0.00227104
2-97866242-A-C p.Asp946Ala missense ANKRD36 1 80242 1.24623E-5 40121 0 NA
2-97866242-A-G p.Asp946Gly missense ANKRD36 2 80244 2.4924E-5 40122 0 NA
2-97866258-G-A p.Arg951Arg synonymous ANKRD36 1 80238 1.24629E-5 40119 0 3.18817E-5
2-97866260-A-C p.Lys952Thr missense+splice_region ANKRD36 8 80228 9.97158E-5 40114 0 1.43505E-4
2-97866264-T-A c.2857+2T>A splice_donor ANKRD36 1 80228 1.24645E-5 40114 0 5.94905E-6
2-97866266-A-G c.2857+4A>G splice_region ANKRD36 3 80218 3.73981E-5 40109 0 1.20536E-5
2-97866269-T-G c.2857+7T>G splice_region ANKRD36 1 80220 1.24657E-5 40110 0 NA
2-97867937-A-G c.2858-2A>G splice_acceptor ANKRD36 1 81146 1.23235E-5 40573 0 5.18108E-5
2-97867947-C-G p.Gln956Glu missense ANKRD36 78 78562 9.92846E-4 39281 0 0.0266022
2-97867954-C-T p.Pro958Leu missense ANKRD36 1 81182 1.2318E-5 40591 0 8.69595E-6
2-97867955-A-T p.Pro958Pro synonymous ANKRD36 79 81132 9.73722E-4 40566 0 9.4021E-4
2-97867956-C-T p.Pro959Ser missense ANKRD36 24 78968 3.03921E-4 39484 0 0.0174699
2-97867959-G-A p.Ala960Thr missense ANKRD36 28 81190 3.4487E-4 40595 1 0.00120482
2-97867959-G-T p.Ala960Ser missense ANKRD36 1 81198 1.23156E-5 40599 0 8.73149E-6
2-97867960-C-G p.Ala960Gly missense ANKRD36 25 79356 3.15036E-4 39678 0 0.0150324
2-97867965-A-C p.Lys962Gln missense ANKRD36 18 81190 2.21702E-4 40595 0 1.10261E-4
2-97867966-A-C p.Lys962Thr missense ANKRD36 5 81198 6.15779E-5 40599 0 5.30373E-5
2-97867970-A-C c.2886+3A>C splice_region ANKRD36 8 81192 9.85319E-5 40596 0 5.33409E-5
2-97867974-A-G c.2886+7A>G splice_region ANKRD36 207 81158 0.00255058 40579 1 0.005625
2-97867975-A-G c.2886+8A>G splice_region ANKRD36 14 81194 1.72427E-4 40597 0 2.52343E-4
2-97868059-G-C p.Gly963Ala missense+splice_region ANKRD36 1 81166 1.23204E-5 40583 0 NA
2-97868062-C-G p.Thr964Arg missense ANKRD36 1 81176 1.23189E-5 40588 0 3.18857E-5
2-97868067-G-A p.Asp966Asn missense ANKRD36 1 81176 1.23189E-5 40588 0 NA
2-97868069-C-T p.Asp966Asp synonymous ANKRD36 15 81172 1.84793E-4 40586 0 4.81412E-4
2-97868070-G-A p.Glu967Lys missense ANKRD36 1 81184 1.23177E-5 40592 0 5.42182E-5
2-97868086-T-C p.Leu972Ser missense ANKRD36 101 81086 0.00124559 40543 0 0.00227964
2-97868086-TGG-T p.Gly973fs frameshift ANKRD36 1 81180 1.23183E-5 40590 0 NA
2-97868088-G-A p.Gly973Ser missense ANKRD36 11 81182 1.35498E-4 40591 2 6.37836E-5
2-97868089-G-A p.Gly973Asp missense ANKRD36 1 81184 1.23177E-5 40592 0 NA
2-97868092-T-C p.Ile974Thr missense ANKRD36 1 81186 1.23174E-5 40593 0 5.72961E-6
2-97868100-G-A p.Glu977Lys missense ANKRD36 4 81182 4.9272E-5 40591 0 6.25E-4
2-97868105-C-T p.Asn978Asn synonymous ANKRD36 1 81194 1.23162E-5 40597 0 6.96718E-5
2-97868118-A-G p.Lys983Glu missense ANKRD36 1 81196 1.23159E-5 40598 0 6.17231E-6
2-97868121-T-C p.Ser984Pro missense ANKRD36 1 81200 1.23153E-5 40600 0 6.21079E-6
2-97868122-C-G p.Ser984Cys missense ANKRD36 1 81202 1.2315E-5 40601 0 NA
2-97868137-T-C c.2959+7T>C splice_region ANKRD36 13 81152 1.60193E-4 40576 0 2.23143E-4
2-97869798-T-C c.2960-7T>C splice_region ANKRD36 1 80180 1.24719E-5 40090 0 2.92774E-5
2-97869801-T-C c.2960-4T>C splice_region ANKRD36 3 80180 3.74158E-5 40090 0 2.91104E-5
2-97869805-T-A p.Val987Glu missense+splice_region ANKRD36 2 80184 2.49426E-5 40092 0 5.74845E-5
2-97869806-G-C p.Val987Val splice_region+synonymous ANKRD36 2 80192 2.49401E-5 40096 0 NA
2-97869812-T-C p.Ser989Ser synonymous ANKRD36 5 80176 6.23628E-5 40088 0 0.00180723
2-97869816-A-C p.Lys991Gln missense ANKRD36 1 80188 1.24707E-5 40094 0 NA
2-97869817-A-T p.Lys991Ile missense ANKRD36 1 80196 1.24694E-5 40098 0 NA
2-97869820-C-T p.Pro992Leu missense ANKRD36 2 80194 2.49395E-5 40097 1 NA
2-97869829-T-C p.Leu995Ser missense ANKRD36 2 80186 2.4942E-5 40093 0 1.00784E-5
2-97869833-G-A p.Lys996Lys synonymous ANKRD36 1 80186 1.2471E-5 40093 0 NA
2-97869838-T-C c.2988+5T>C splice_region ANKRD36 3 80172 3.74195E-5 40086 0 6.37633E-5
2-97869922-A-G c.2989-6A>G splice_region ANKRD36 47 80218 5.85903E-4 40109 0 0.00146472
2-97869926-A-C c.2989-2A>C splice_acceptor ANKRD36 1 80230 1.24642E-5 40115 0 4.71538E-6
2-97869931-A-T p.Thr998Ser missense ANKRD36 1 80218 1.2466E-5 40109 0 0.0968466
2-97869932-C-A p.Thr998Lys missense ANKRD36 1 80226 1.24648E-5 40113 0 4.68894E-6
2-97869938-A-C p.Asp1000Ala missense ANKRD36 4 80226 4.98591E-5 40113 0 2.231E-4
2-97869939-T-C p.Asp1000Asp synonymous ANKRD36 4 80222 4.98616E-5 40111 0 2.23157E-4
2-97869952-GT-G p.Leu1006fs frameshift ANKRD36 1 80244 1.2462E-5 40122 0 1.41016E-5
2-97869961-A-G p.Ile1008Val missense ANKRD36 3 80248 3.73841E-5 40124 0 NA
2-97869966-C-A p.Ala1009Ala synonymous ANKRD36 2 80252 2.49215E-5 40126 0 NA
2-97869970-G-C p.Gly1011Arg missense ANKRD36 1 80246 1.24617E-5 40123 0 NA
2-97869970-G-A p.Gly1011Arg missense ANKRD36 5 80250 6.23053E-5 40125 0 3.19428E-5
2-97869972-A-T p.Gly1011Gly synonymous ANKRD36 2 80246 2.49234E-5 40123 0 6.0024E-4
2-97869974-A-T p.Lys1012Ile missense ANKRD36 1 80252 1.24607E-5 40126 0 NA
2-97869979-G-T p.Asp1014Tyr missense ANKRD36 423 80144 0.005278 40072 5 0.0561529
2-97869979-G-C p.Asp1014His missense ANKRD36 1 80264 1.24589E-5 40132 0 2.20987E-5
2-97869981-T-A p.Asp1014Glu missense ANKRD36 1 80262 1.24592E-5 40131 0 NA
2-97869986-A-G p.Glu1016Gly missense ANKRD36 1 80246 1.24617E-5 40123 0 5.25569E-6
2-97869993-T-A p.Thr1018Thr synonymous ANKRD36 9 80230 1.12177E-4 40115 0 1.09268E-4
2-97869993-T-C p.Thr1018Thr synonymous ANKRD36 1 80230 1.24642E-5 40115 0 NA
2-97869994-A-G p.Arg1019Gly missense ANKRD36 3 80226 3.73944E-5 40113 0 5.74944E-5
2-97869995-G-A p.Arg1019Lys missense ANKRD36 5 80206 6.23395E-5 40103 0 1.27543E-4
2-97869998-C-G p.Thr1020Arg missense+splice_region ANKRD36 5 80200 6.23441E-5 40100 0 2.06368E-4
2-97871674-C-T c.3062-3C>T splice_region ANKRD36 1 79824 1.25276E-5 39912 0 5.71592E-6
2-97871674-C-G c.3062-3C>G splice_region ANKRD36 3 79824 3.75827E-5 39912 0 1.71478E-5
2-97871678-G-A p.Val1021Val splice_region+synonymous ANKRD36 1 79866 1.2521E-5 39933 0 NA
2-97871680-C-T p.Ser1022Phe missense ANKRD36 80 79882 0.00100148 39941 2 0.00378959
2-97871685-C-T p.Gln1024* stop_gained ANKRD36 1 79918 1.25128E-5 39959 0 3.19285E-5
2-97871690-AC-A p.Pro1026fs frameshift ANKRD36 1 79924 1.25119E-5 39962 0 NA
2-97871697-A-G p.Thr1028Ala missense ANKRD36 1 79930 1.25109E-5 39965 0 1.08116E-4
2-97871706-G-A c.3090+1G>A splice_donor ANKRD36 1 79980 1.25031E-5 39990 0 NA
2-97871794-A-C c.3091-6A>C splice_region ANKRD36 3 80234 3.73906E-5 40117 0 NA
2-97871797-C-T c.3091-3C>T splice_region ANKRD36 2 80244 2.4924E-5 40122 0 NA
2-97871798-A-G c.3091-2A>G splice_acceptor ANKRD36 2 80242 2.49246E-5 40121 0 7.21223E-4
2-97871801-C-G p.Ala1031Gly missense+splice_region ANKRD36 4 80238 4.98517E-5 40119 0 4.19317E-5
2-97871807-G-A p.Ser1033Asn missense ANKRD36 2 80270 2.49159E-5 40135 1 NA
2-97871809-G-A p.Asp1034Asn missense ANKRD36 1 80258 1.24598E-5 40129 0 1.20041E-5
2-97871811-T-C p.Asp1034Asp synonymous ANKRD36 2 80256 2.49203E-5 40128 0 NA
2-97871815-GA-G p.Asp1037fs frameshift ANKRD36 2 80258 2.49196E-5 40129 0 6.38162E-5
2-97871817-A-G p.Glu1036Glu synonymous ANKRD36 2 80266 2.49171E-5 40133 0 6.38081E-5
2-97871825-T-C p.Val1039Ala missense ANKRD36 1 80262 1.24592E-5 40131 0 NA
2-97871830-A-G p.Ser1041Gly missense ANKRD36 2 80226 2.49296E-5 40113 0 4.1813E-5
2-97871830-A-T p.Ser1041Cys missense ANKRD36 1 80228 1.24645E-5 40114 0 NA
2-97871831-G-A p.Ser1041Asn missense ANKRD36 1 80218 1.2466E-5 40109 0 1.21001E-5
2-97871832-T-C p.Ser1041Ser synonymous ANKRD36 1 80218 1.2466E-5 40109 0 3.19061E-5
2-97871847-C-A p.Asn1046Lys missense ANKRD36 1 80150 1.24766E-5 40075 0 1.87098E-5
2-97871849-A-T p.Lys1047Met missense ANKRD36 3 80154 3.7428E-5 40077 0 1.30503E-4
2-97871857-G-T p.Glu1050* stop_gained ANKRD36 1 80116 1.24819E-5 40058 0 3.19183E-5
2-97871862-A-T p.Lys1051Asn missense ANKRD36 1 80104 1.24838E-5 40052 0 3.19163E-5
2-97871867-G-A p.Arg1053Lys missense ANKRD36 2 80068 2.49788E-5 40034 0 6.5703E-4
2-97871870-C-T p.Thr1054Ile missense+splice_region ANKRD36 4 80034 4.99788E-5 40017 0 4.61808E-5
2-97871879-C-A c.3163+7C>A splice_region ANKRD36 1 79964 1.25056E-5 39982 0 6.79523E-6
2-97871879-C-T c.3163+7C>T splice_region ANKRD36 1 79968 1.2505E-5 39984 0 4.7259E-5
2-97873556-G-C p.Glu1058Gln missense ANKRD36 1 79422 1.2591E-5 39711 0 NA
2-97873557-AG-A p.Lys1059fs frameshift ANKRD36 1 79410 1.25929E-5 39705 0 3.19428E-5
2-97873557-A-G p.Glu1058Gly missense ANKRD36 1 79408 1.25932E-5 39704 0 9.28764E-5
2-97873562-C-T p.Pro1060Ser missense ANKRD36 2 79440 2.51762E-5 39720 0 NA
2-97873564-A-G p.Pro1060Pro synonymous ANKRD36 812 77242 0.0105124 38621 26 0.0246338
2-97873564-A-C p.Pro1060Pro synonymous ANKRD36 1 79444 1.25875E-5 39722 0 NA
2-97873565-T-C p.Ser1061Pro missense ANKRD36 6 79426 7.5542E-5 39713 0 1.39366E-4
2-97873569-G-T p.Gly1062Val missense ANKRD36 4 79422 5.03639E-5 39711 0 1.28136E-5
2-97873570-C-T p.Gly1062Gly synonymous ANKRD36 4 79416 5.03677E-5 39708 0 1.28146E-5
2-97873573-G-T p.Leu1063Phe missense ANKRD36 1 79422 1.2591E-5 39711 0 NA
2-97873576-G-A p.Lys1064Lys synonymous ANKRD36 3 79408 3.77796E-5 39704 0 6.4274E-6
2-97873577-G-A c.3192+1G>A splice_donor ANKRD36 1 79406 1.25935E-5 39703 0 4.66287E-5
2-97873584-A-G c.3192+8A>G splice_region ANKRD36 1 79404 1.25938E-5 39702 0 1.93706E-5
2-97873665-A-G c.3193-6A>G splice_region ANKRD36 1 79078 1.26457E-5 39539 0 1.3048E-4
2-97873674-A-T p.Thr1066Ser missense ANKRD36 8 78928 1.01358E-4 39464 0 0.0751366
2-97873678-G-A p.Ser1067Asn missense ANKRD36 1 78814 1.26881E-5 39407 0 6.47207E-6
2-97873681-C-A p.Ala1068Asp missense ANKRD36 39 75506 5.16515E-4 37753 0 0.100968
2-97873682-C-T p.Ala1068Ala synonymous ANKRD36 10 78614 1.27204E-4 39307 0 0.0794199
2-97873689-G-T p.Asp1071Tyr missense ANKRD36 1 78560 1.27291E-5 39280 0 6.77507E-4
2-97873690-A-T p.Asp1071Val missense ANKRD36 1 78550 1.27307E-5 39275 0 6.4919E-6
2-97873693-C-G p.Ser1072Cys missense ANKRD36 6 78512 7.64214E-5 39256 1 0.00202977
2-97873695-G-A p.Val1073Ile missense ANKRD36 4 78454 5.09853E-5 39227 1 2.95722E-4
2-97873695-G-C p.Val1073Leu missense ANKRD36 1 78454 1.27463E-5 39227 0 NA
2-97873701-A-T p.Asn1075Tyr missense ANKRD36 8 77066 1.03807E-4 38533 0 0.0129294
2-97873714-G-A p.Gly1079Glu missense ANKRD36 2 77388 2.58438E-5 38694 0 0.0100079
2-97873721-G-C p.Lys1081Asn missense ANKRD36 1 77980 1.28238E-5 38990 0 0.00105319
2-97873722-T-G p.Tyr1082Asp missense ANKRD36 30 77432 3.87437E-4 38716 2 0.0119092
2-97873722-T-C p.Tyr1082His missense ANKRD36 2 77974 2.56496E-5 38987 0 1.05619E-4
2-97873728-G-GA p.Thr1086fs frameshift ANKRD36 1 77886 1.28393E-5 38943 0 NA
2-97873729-A-G p.Glu1084Gly missense ANKRD36 2 77882 2.56799E-5 38941 0 1.31008E-5
2-97873734-A-T p.Thr1086Ser missense ANKRD36 1 77634 1.2881E-5 38817 0 0.0108032
2-97873738-A-G p.Lys1087Arg missense ANKRD36 3 77584 3.86678E-5 38792 0 0.00998214
2-97873741-G-C p.Arg1088Thr missense+splice_region ANKRD36 2 77544 2.57918E-5 38772 0 0.0101229
2-97873743-G-GGTA c.3265_3265+1insGTA splice_donor ANKRD36 2 77626 2.57646E-5 38813 0 1.99243E-5
2-97875420-T-C p.Ser1090Pro missense+splice_region ANKRD36 2 78438 2.54978E-5 39219 0 1.70068E-5
2-97875426-CG-C p.Lys1094fs frameshift ANKRD36 7 78464 8.92129E-5 39232 0 6.30517E-4
2-97875426-C-T p.Arg1092Trp missense ANKRD36 3 78466 3.82331E-5 39233 0 3.03374E-5
2-97875428-G-GA p.Pro1095fs frameshift ANKRD36 3 78472 3.82302E-5 39236 0 4.25181E-6
2-97875435-C-A p.Pro1095Thr missense ANKRD36 18 78468 2.29393E-4 39234 0 3.88524E-4
2-97875438-G-T p.Ala1096Ser missense ANKRD36 24 78526 3.05631E-4 39263 1 0.00197628
2-97875442-T-C p.Leu1097Ser missense ANKRD36 5 78546 6.3657E-5 39273 0 2.08673E-4
2-97875442-T-G p.Leu1097Trp missense ANKRD36 1 78560 1.27291E-5 39280 0 4.9684E-5
2-97875449-A-C c.3294+3A>C splice_region ANKRD36 1 78570 1.27275E-5 39285 0 4.23334E-6
2-97875535-A-G c.3295-2A>G splice_acceptor ANKRD36 1 80736 1.2386E-5 40368 0 NA
2-97875541-C-A p.Thr1100Lys missense ANKRD36 1 80736 1.2386E-5 40368 0 NA
2-97875545-T-G p.Ser1101Arg missense ANKRD36 1 80760 1.23824E-5 40380 0 NA
2-97875548-C-G p.Asp1102Glu missense ANKRD36 1 80740 1.23854E-5 40370 0 NA
2-97875548-C-T p.Asp1102Asp synonymous ANKRD36 1 80740 1.23854E-5 40370 0 4.95479E-5
2-97875549-G-A p.Glu1103Lys missense ANKRD36 2 80748 2.47684E-5 40374 0 1.91877E-4
2-97875552-A-G p.Lys1104Glu missense ANKRD36 1 80748 1.23842E-5 40374 0 NA
2-97875553-A-T p.Lys1104Ile missense ANKRD36 2 80760 2.47647E-5 40380 0 6.38733E-5
2-97875555-G-T p.Asp1105Tyr missense ANKRD36 2 80766 2.47629E-5 40383 0 4.34235E-6
2-97875559-C-T p.Ser1106Phe missense ANKRD36 1 80754 1.23833E-5 40377 0 4.35954E-6
2-97875561-G-C p.Val1107Leu missense ANKRD36 95 80726 0.00117682 40363 0 0.00239808
2-97875561-G-A p.Val1107Ile missense ANKRD36 2 80744 2.47696E-5 40372 0 NA
2-97875561-G-GT p.Leu1108fs frameshift ANKRD36 2 80744 2.47696E-5 40372 0 NA
2-97875566-GTA-G p.Ile1110fs frameshift ANKRD36 1 80728 1.23873E-5 40364 0 NA
2-97875566-G-T p.Leu1108Phe missense ANKRD36 1 80728 1.23873E-5 40364 0 2.773E-5
2-97875568-A-G p.Tyr1109Cys missense ANKRD36 1 80720 1.23885E-5 40360 0 1.41957E-5
2-97875569-T-C p.Tyr1109Tyr synonymous ANKRD36 2 80720 2.4777E-5 40360 0 5.6823E-5
2-97875577-G-A p.Arg1112Lys missense ANKRD36 1 80682 1.23943E-5 40341 0 NA
2-97875579-GA-G p.Lys1115fs frameshift ANKRD36 2 80688 2.47868E-5 40344 0 6.43563E-5
2-97875580-A-G p.Glu1113Gly missense ANKRD36 5 80686 6.19686E-5 40343 0 3.21048E-5
2-97875584-A-C p.Lys1114Asn missense ANKRD36 1 80656 1.23983E-5 40328 0 1.6541E-5
2-97875586-A-T p.Lys1115Met missense ANKRD36 2 80632 2.4804E-5 40316 0 4.70349E-6
2-97875588-G-T p.Asp1116Tyr missense ANKRD36 1 80612 1.24051E-5 40306 0 NA
2-97875589-A-G p.Asp1116Gly missense ANKRD36 1 80602 1.24066E-5 40301 0 NA
2-97875607-C-G p.Thr1122Arg missense+splice_region ANKRD36 2 80482 2.48503E-5 40241 0 3.07235E-5
2-97875608-A-G p.Thr1122Thr splice_region+synonymous ANKRD36 4 80474 4.97055E-5 40237 0 3.19E-5
2-97875613-A-G c.3367+4A>G splice_region ANKRD36 2 80448 2.48608E-5 40224 0 1.05102E-5
2-97877283-T-A p.Val1123Glu missense+splice_region ANKRD36 21 80740 2.60094E-4 40370 0 0.00106724
2-97877289-C-T p.Ser1125Phe missense ANKRD36 1 80830 1.23716E-5 40415 0 3.18918E-5
2-97877291-C-T p.Pro1126Ser missense ANKRD36 3 80870 3.70966E-5 40435 0 5.27426E-4
2-97877292-C-A p.Pro1126Gln missense ANKRD36 66291 79728 0.831464 39864 28090 0.844265
2-97877294-A-G p.Lys1127Glu missense ANKRD36 1 80930 1.23564E-5 40465 0 NA
2-97877300-C-T p.Pro1129Ser missense ANKRD36 2 81014 2.46871E-5 40507 0 4.04537E-6
2-97877310-A-T p.Lys1132Met missense ANKRD36 1 81192 1.23165E-5 40596 0 NA
2-97877315-ATT-A c.3396+5_3396+6delTT splice_region ANKRD36 1 81270 1.23047E-5 40635 0 NA
2-97877398-C-T c.3397-8C>T splice_region ANKRD36 1 82258 1.21569E-5 41129 0 2.36978E-5
2-97877399-T-C c.3397-7T>C splice_region ANKRD36 68120 81834 0.832417 40917 28898 0.843319
2-97877417-C-T p.Asp1136Asp synonymous ANKRD36 2 82340 2.42895E-5 41170 0 8.94807E-6
2-97877417-C-G p.Asp1136Glu missense ANKRD36 1 82340 1.21448E-5 41170 0 4.47403E-6
2-97877419-A-G p.Lys1137Arg missense ANKRD36 1 82338 1.21451E-5 41169 0 NA
2-97877434-C-T p.Pro1142Leu missense ANKRD36 1 82330 1.21462E-5 41165 0 4.48286E-6
2-97877435-G-A p.Pro1142Pro synonymous ANKRD36 5 82336 6.07268E-5 41168 0 3.18918E-5
2-97877440-T-C p.Met1144Thr missense ANKRD36 33316 77768 0.428402 38884 1999 0.445703
2-97877440-TG-CA p.Met1144Thr missense ANKRD36 1 82346 1.21439E-5 41173 0 NA
2-97877441-G-A p.Met1144Ile missense ANKRD36 1 82330 1.21462E-5 41165 0 9.02967E-6
2-97877445-ACG-A p.Thr1146fs frameshift ANKRD36 4 82338 4.85802E-5 41169 0 1.595E-4
2-97877446-C-T p.Thr1146Met missense ANKRD36 2 82320 2.42954E-5 41160 0 8.49137E-5
2-97877449-A-G p.Glu1147Gly missense ANKRD36 4 82330 4.8585E-5 41165 0 4.65415E-6
2-97877451-A-T p.Lys1148* stop_gained ANKRD36 6 82344 7.28651E-5 41172 0 2.32645E-5
2-97877457-G-C p.Asp1150His missense ANKRD36 1 82318 1.2148E-5 41159 0 NA
2-97877468-ATC-A p.Ser1154fs frameshift ANKRD36 72 82270 8.75167E-4 41135 0 0.0032747
2-97877473-G-T p.Gly1155Val missense ANKRD36 1 82238 1.21598E-5 41119 0 3.19E-5
2-97877474-G-C p.Gly1155Gly synonymous ANKRD36 2 82230 2.4322E-5 41115 0 NA
2-97877478-G-A p.Val1157Met missense+splice_region ANKRD36 27707 77316 0.35836 38658 5 0.394881
2-97877478-G-C p.Val1157Leu missense+splice_region ANKRD36 1 82200 1.21655E-5 41100 0 NA
2-97877480-T-C c.3469+2T>C splice_donor ANKRD36 3 82182 3.65043E-5 41091 0 3.18959E-5