Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-5904658-T-C c.*34-4A>G splice_region ANKRD16 1 78072 1.28087E-5 39036 0 NA
10-5904659-GAAGA-G c.*34-9_*34-6delTCTT splice_region ANKRD16 1 78068 1.28093E-5 39034 0 NA
10-5904661-A-G c.*34-7T>C splice_region ANKRD16 9016 77394 0.116495 38697 536 0.18232
10-5920097-G-A p.Thr361Ile missense ANKRD16 4 83272 4.80354E-5 41636 0 3.98877E-6
10-5920104-C-T p.Ala359Thr missense ANKRD16 10 83264 1.201E-4 41632 0 6.25E-4
10-5920105-G-A p.Ser358Ser synonymous ANKRD16 1 83262 1.20103E-5 41631 0 9.55353E-5
10-5920121-T-C p.Gln353Arg missense ANKRD16 70351 82842 0.849219 41421 30054 0.858481
10-5920122-G-A p.Gln353* stop_gained ANKRD16 1 83246 1.20126E-5 41623 0 NA
10-5920144-G-A p.Leu345Leu synonymous ANKRD16 3 83196 3.60594E-5 41598 0 NA
10-5920145-AGCTGCTGAGCCAGGGT-A p.Thr340fs frameshift ANKRD16 2 83192 2.40408E-5 41596 0 8.2394E-6
10-5920160-G-T p.Thr340Asn missense ANKRD16 1 83150 1.20265E-5 41575 0 NA
10-5920163-C-A p.Gly339Val missense ANKRD16 1 83126 1.20299E-5 41563 0 NA
10-5920165-C-T p.Thr338Thr synonymous ANKRD16 2 83130 2.40587E-5 41565 0 8.24198E-6
10-5920166-G-A p.Thr338Met missense ANKRD16 6 83120 7.21848E-5 41560 1 6.25782E-4
10-5920173-C-T p.Asp336Asn missense ANKRD16 1 83104 1.20331E-5 41552 0 NA
10-5920192-C-T p.Arg303Gln missense ANKRD16 50 82942 6.02831E-4 41471 0 3.18481E-4
10-5920195-C-T p.Ser302Asn missense ANKRD16 4 82950 4.82218E-5 41475 0 1.27413E-4
10-5920200-G-A p.Ser300Ser synonymous ANKRD16 9 82906 1.08557E-4 41453 0 1.32203E-4
10-5920208-T-C p.Ser298Gly missense ANKRD16 1 82786 1.20793E-5 41393 0 NA
10-5920220-A-T p.Leu320* stop_gained ANKRD16 1 82626 1.21027E-5 41313 0 NA
10-5920227-G-C p.Gln318Glu missense ANKRD16 1 82466 1.21262E-5 41233 0 NA
10-5920230-C-G p.Gln290His missense ANKRD16 1 82432 1.21312E-5 41216 0 NA
10-5920235-C-G p.Val289Leu missense ANKRD16 1 82384 1.21383E-5 41192 0 6.25782E-4
10-5920242-GAT-AAC p.Ile286Val missense ANKRD16 2 82208 2.43285E-5 41104 0 NA
10-5920244-T-C p.Ile286Val missense ANKRD16 2059 81966 0.0251202 40983 145 0.0555733
10-5920244-T-G p.Ile286Leu missense ANKRD16 2 82168 2.43404E-5 41084 0 NA
10-5920253-G-A c.850-3C>T splice_region ANKRD16 3 81636 3.67485E-5 40818 0 8.4076E-6
10-5920254-A-ATCGATTTTTTTCATCTTTAGAATTGAT c.850-5_850-4insATCAATTCTAAAGATGAAAAAAATCGA splice_region ANKRD16 1 81576 1.22585E-5 40788 0 NA
10-5922255-C-T c.928+6G>A splice_region ANKRD16 32 81518 3.92551E-4 40759 0 7.05083E-4
10-5922256-G-A c.928+5C>T splice_region ANKRD16 4 81602 4.90184E-5 40801 0 9.64599E-6
10-5922266-C-T p.Arg308Gln missense ANKRD16 1 82048 1.2188E-5 41024 0 3.19795E-5
10-5922268-A-AT p.Asn307fs frameshift ANKRD16 1 82182 1.21681E-5 41091 0 1.79067E-5
10-5922271-T-C p.Lys306Lys synonymous ANKRD16 15 82278 1.82309E-4 41139 0 2.76066E-4
10-5922308-AAG-A p.Leu294fs frameshift ANKRD16 1 82572 1.21106E-5 41286 0 NA
10-5922310-G-A p.Leu293Leu synonymous ANKRD16 8 82604 9.68476E-5 41302 0 6.37308E-5
10-5922322-T-G p.Thr289Thr synonymous ANKRD16 11 82482 1.33362E-4 41241 0 6.37308E-5
10-5922323-G-C p.Thr289Arg missense ANKRD16 1 82452 1.21283E-5 41226 0 NA
10-5922332-T-C p.His286Arg missense ANKRD16 1 82308 1.21495E-5 41154 0 4.3043E-6
10-5922332-T-G p.His286Pro missense ANKRD16 5 82308 6.07474E-5 41154 0 2.60507E-5
10-5922333-G-A p.His286Tyr missense ANKRD16 2 82272 2.43096E-5 41136 0 8.5659E-6
10-5922338-T-C p.Glu284Gly missense+splice_region ANKRD16 1 82134 1.21752E-5 41067 0 1.7522E-5
10-5922346-T-C c.850-7A>G splice_region ANKRD16 1 81852 1.22172E-5 40926 0 NA
10-5924961-T-C c.849+8A>G splice_region ANKRD16 3 83338 3.5998E-5 41669 0 9.55292E-5
10-5924971-T-C p.Lys283Glu missense+splice_region ANKRD16 2 83346 2.39964E-5 41673 0 1.63789E-4
10-5924992-T-C p.Thr276Ala missense ANKRD16 2 83362 2.39917E-5 41681 0 3.98241E-6
10-5924999-G-T p.Thr273Thr synonymous ANKRD16 1 83356 1.19967E-5 41678 0 8.25887E-6
10-5925016-C-T p.Val268Met missense ANKRD16 24 83344 2.87963E-4 41672 0 3.55002E-4
10-5925017-A-T p.Asp267Glu missense ANKRD16 1 83348 1.19979E-5 41674 0 NA
10-5925019-C-G p.Asp267His missense ANKRD16 9 83342 1.07989E-4 41671 0 0.00100705
10-5925026-G-A p.Val264Val synonymous ANKRD16 1 83336 1.19996E-5 41668 0 3.18532E-5
10-5925028-C-T p.Val264Ile missense ANKRD16 1 83332 1.20002E-5 41666 0 6.37024E-5
10-5925029-G-A p.Gly263Gly synonymous ANKRD16 1331 83304 0.0159776 41652 13 0.0138939
10-5925033-A-G p.Leu262Pro missense ANKRD16 1 83322 1.20016E-5 41661 0 3.18532E-5
10-5925034-G-A p.Leu262Phe missense ANKRD16 1 83318 1.20022E-5 41659 0 3.18573E-5
10-5925041-G-A p.Val259Val synonymous ANKRD16 3 83308 3.60109E-5 41654 0 3.18431E-5
10-5925047-G-A p.Phe257Phe synonymous ANKRD16 789 83288 0.00947315 41644 17 0.0181269
10-5925049-A-T p.Phe257Ile missense ANKRD16 1 83304 1.20042E-5 41652 0 8.2631E-6
10-5925050-T-C p.Arg256Arg synonymous ANKRD16 2 83292 2.40119E-5 41646 0 NA
10-5925051-C-T p.Arg256Gln missense ANKRD16 1 83290 1.20062E-5 41645 0 1.99026E-5
10-5925052-G-A p.Arg256* stop_gained ANKRD16 3 83292 3.60179E-5 41646 0 1.65355E-5
10-5925055-T-G p.Ile255Leu missense ANKRD16 1 83278 1.2008E-5 41639 0 3.18512E-5
10-5925055-T-C p.Ile255Val missense ANKRD16 1 83278 1.2008E-5 41639 0 NA
10-5925056-G-A p.Ala254Ala synonymous ANKRD16 4 83270 4.80365E-5 41635 2 NA
10-5925064-C-T p.Asp252Asn missense ANKRD16 4 83250 4.8048E-5 41625 0 NA
10-5925077-A-G p.Ala247Ala synonymous ANKRD16 1 83234 1.20143E-5 41617 0 NA
10-5925082-C-T p.Ala246Thr missense ANKRD16 2 83198 2.4039E-5 41599 0 NA
10-5925117-G-A p.Ala234Val missense ANKRD16 1 82930 1.20584E-5 41465 0 1.59905E-5
10-5925135-T-C c.688-5A>G splice_region ANKRD16 65 82622 7.86715E-4 41311 0 3.7738E-4
10-5925930-ACC-A p.Ala230fs frameshift ANKRD16 1 83202 1.20189E-5 41601 0 5.00977E-5
10-5925943-C-T p.Asp226Asn missense ANKRD16 8 83272 9.60707E-5 41636 0 3.18471E-5
10-5925944-G-A p.Leu225Leu synonymous ANKRD16 6 83274 7.20513E-5 41637 0 2.23436E-4
10-5925944-G-C p.Leu225Leu synonymous ANKRD16 3 83274 3.60256E-5 41637 0 NA
10-5925957-G-C p.Ala221Gly missense ANKRD16 1 83314 1.20028E-5 41657 0 NA
10-5925958-C-T p.Ala221Thr missense ANKRD16 4 83318 4.80088E-5 41659 0 1.65166E-4
10-5925962-G-A p.Asp219Asp synonymous ANKRD16 2 83320 2.40038E-5 41660 0 8.25505E-6
10-5925964-C-T p.Asp219Asn missense ANKRD16 5 83318 6.0011E-5 41659 0 6.25E-4
10-5925965-G-A p.Ile218Ile synonymous ANKRD16 4 83324 4.80054E-5 41662 0 2.22887E-4
10-5925971-C-A p.Gly216Gly synonymous ANKRD16 73790 81850 0.901527 40925 33298 0.914979
10-5925971-CCC-ACA p.Gly216Cys missense ANKRD16 1 83330 1.20005E-5 41665 0 NA
10-5925973-C-A p.Gly216Trp missense ANKRD16 44 83334 5.27996E-4 41667 0 9.55049E-4
10-5925977-C-A p.Gln214His missense ANKRD16 1 83336 1.19996E-5 41668 0 NA
10-5925977-C-G p.Gln214His missense ANKRD16 2 83336 2.39992E-5 41668 0 NA
10-5925980-G-C p.Ile213Met missense ANKRD16 3 83338 3.5998E-5 41669 0 NA
10-5925985-C-T p.Ala212Thr missense ANKRD16 8 83340 9.59923E-5 41670 0 9.54988E-5
10-5925997-C-T p.Ala208Thr missense ANKRD16 5 83342 5.99938E-5 41671 0 9.54798E-5
10-5926000-T-C p.Thr207Ala missense ANKRD16 1 83336 1.19996E-5 41668 0 NA
10-5926001-G-A p.Val206Val synonymous ANKRD16 17 83336 2.03993E-4 41668 0 0.00125
10-5926003-C-T p.Val206Ile missense ANKRD16 2 83336 2.39992E-5 41668 0 1.98924E-5
10-5926004-G-A p.Gly205Gly synonymous ANKRD16 1 83332 1.20002E-5 41666 0 7.95849E-6
10-5926015-C-T p.Asp202Asn missense ANKRD16 1 83328 1.20008E-5 41664 0 NA
10-5926019-G-A p.Tyr200Tyr synonymous ANKRD16 2 83326 2.40021E-5 41663 0 6.36862E-5
10-5926027-G-C p.Pro198Ala missense ANKRD16 1 83300 1.20048E-5 41650 0 NA
10-5926032-T-C p.Tyr196Cys missense ANKRD16 24 83280 2.88184E-4 41640 0 1.91058E-4
10-5926034-T-C p.Gln195Gln synonymous ANKRD16 2636 83200 0.0316827 41600 83 0.0553539
10-5926046-G-A c.579-6C>T splice_region ANKRD16 1 83182 1.20218E-5 41591 0 NA
10-5927679-T-G c.578+7A>C splice_region ANKRD16 10 83298 1.20051E-4 41649 0 1.27372E-4
10-5927703-G-C p.Val187Val synonymous ANKRD16 2 83336 2.39992E-5 41668 0 NA
10-5927715-A-G p.His183His synonymous ANKRD16 1 83328 1.20008E-5 41664 0 6.25E-4
10-5927716-T-C p.His183Arg missense ANKRD16 1 83322 1.20016E-5 41661 0 4.16022E-6
10-5927722-T-C p.His181Arg missense ANKRD16 4 83324 4.80054E-5 41662 0 2.4013E-4
10-5927725-A-G p.Met180Thr missense ANKRD16 1 83322 1.20016E-5 41661 0 NA
10-5927735-G-A c.536-7C>T splice_region ANKRD16 6 83304 7.20254E-5 41652 0 5.17907E-5
10-5927736-G-A c.536-8C>T splice_region ANKRD16 1 83302 1.20045E-5 41651 0 NA
10-5929815-G-A p.Thr177Ile missense ANKRD16 1 82730 1.20875E-5 41365 0 3.99639E-6
10-5929819-GC-AA p.LeuHis175LeuTyr missense ANKRD16 5 82774 6.04054E-5 41387 0 NA
10-5929822-G-A p.Leu175Leu synonymous ANKRD16 2 82840 2.41429E-5 41420 0 3.1839E-5
10-5929829-CCTT-C p.Arg172del disruptive_inframe_deletion ANKRD16 1 82958 1.20543E-5 41479 0 NA
10-5929841-GCTCT-G p.Glu167fs frameshift ANKRD16 5 83082 6.01815E-5 41541 0 3.38003E-5
10-5929842-C-T p.Ser168Asn missense ANKRD16 7 83076 8.42602E-5 41538 0 1.68719E-5
10-5929844-C-G p.Glu167Asp missense ANKRD16 1 83090 1.20351E-5 41545 0 NA
10-5929860-C-T p.Gly162Asp missense ANKRD16 3 83160 3.6075E-5 41580 0 3.1837E-5
10-5929866-CAAACAGTGAGCAGGT-C p.Tyr155_Val159del disruptive_inframe_deletion ANKRD16 2 83204 2.40373E-5 41602 0 NA
10-5929867-A-G p.Cys160Arg missense ANKRD16 5 83206 6.00918E-5 41603 0 5.03525E-4
10-5929880-G-A p.Tyr155Tyr synonymous ANKRD16 8 83234 9.61146E-5 41617 0 8.74967E-5
10-5929884-T-C p.Gln154Arg missense ANKRD16 4 83250 4.8048E-5 41625 0 5.03525E-4
10-5929888-G-A p.Leu153Phe missense ANKRD16 3 83248 3.60369E-5 41624 0 5.03525E-4
10-5929896-G-A p.Pro150Leu missense ANKRD16 1 83276 1.20083E-5 41638 0 NA
10-5929900-C-T p.Asp149Asn missense ANKRD16 1 83270 1.20091E-5 41635 0 8.24511E-6
10-5929909-G-A p.Arg146* stop_gained ANKRD16 1 83278 1.2008E-5 41639 0 3.97646E-6
10-5929922-GA-G p.Phe141fs frameshift ANKRD16 3 83296 3.60161E-5 41648 0 5.7672E-5
10-5929935-C-T p.Gly137Asp missense ANKRD16 2 83306 2.40079E-5 41653 0 NA
10-5929939-CTT-C p.Lys135fs frameshift ANKRD16 1 83298 1.20051E-5 41649 0 3.97633E-6
10-5929943-G-T p.Asn134Lys missense ANKRD16 1 83304 1.20042E-5 41652 0 3.97627E-6
10-5929951-G-T p.Leu132Met missense ANKRD16 1 83294 1.20057E-5 41647 0 8.23737E-6
10-5929962-G-C p.Ala128Gly missense ANKRD16 2538 83212 0.0305004 41606 75 0.0528644
10-5929962-G-T p.Ala128Asp missense ANKRD16 2 83284 2.40142E-5 41642 0 NA
10-5929963-C-T p.Ala128Thr missense ANKRD16 1 83284 1.20071E-5 41642 0 1.31218E-4
10-5929975-C-T p.Val124Met missense ANKRD16 1 83274 1.20085E-5 41637 0 3.9763E-6
10-5929977-A-G p.Leu123Pro missense ANKRD16 1 83262 1.20103E-5 41631 0 8.23723E-6
10-5929978-G-A p.Leu123Leu synonymous ANKRD16 2 83262 2.40206E-5 41631 0 NA
10-5929978-G-C p.Leu123Val missense ANKRD16 1 83262 1.20103E-5 41631 0 1.59052E-5
10-5929982-C-T p.Gln121Gln synonymous ANKRD16 3 83260 3.60317E-5 41630 0 3.29511E-5
10-5929985-G-C p.Ile120Met missense ANKRD16 1 83244 1.20129E-5 41622 0 NA
10-5929993-C-T p.Gly118Arg missense ANKRD16 2 83228 2.40304E-5 41614 0 NA
10-5929995-A-G p.Leu117Pro missense ANKRD16 2 83222 2.40321E-5 41611 0 NA
10-5930008-T-A p.Thr113Ser missense ANKRD16 2 83126 2.40599E-5 41563 0 NA
10-5930017-T-A p.Met110Leu missense ANKRD16 8 83042 9.63368E-5 41521 0 2.23029E-4
10-5930018-C-T p.Met109Ile missense ANKRD16 5 83038 6.02134E-5 41519 0 3.18695E-4
10-5930999-C-T c.314+5G>A splice_region ANKRD16 15 43178 3.47399E-4 21589 0 1.20016E-4
10-5931008-C-T p.Asp104Asn missense ANKRD16 2 43748 4.57164E-5 21874 0 5.01795E-5
10-5931011-C-T p.Ala103Thr missense ANKRD16 63 43990 0.00143214 21995 0 0.0041507
10-5931016-T-C p.Lys101Arg missense ANKRD16 1 44680 2.23814E-5 22340 0 5.04032E-4
10-5931033-T-C p.Ala95Ala synonymous ANKRD16 9 46766 1.92448E-4 23383 0 1.27763E-4
10-5931035-C-T p.Ala95Thr missense ANKRD16 1 47144 2.12116E-5 23572 0 NA
10-5931037-C-T p.Gly94Glu missense ANKRD16 1 47688 2.09696E-5 23844 0 1.02987E-5
10-5931038-C-A p.Gly94Trp missense ANKRD16 1 47834 2.09056E-5 23917 0 2.67116E-4
10-5931040-C-T p.Arg93Gln missense ANKRD16 1 48068 2.08039E-5 24034 0 8.19404E-5
10-5931056-G-C p.Arg88Gly missense ANKRD16 1 51008 1.96048E-5 25504 0 NA
10-5931066-T-C p.Arg84Arg synonymous ANKRD16 1 53202 1.87963E-5 26601 0 NA
10-5931085-G-A p.Ala78Val missense ANKRD16 1 56546 1.76847E-5 28273 0 5.75705E-5
10-5931088-T-C p.Glu77Gly missense ANKRD16 2 57278 3.49174E-5 28639 0 NA
10-5931089-C-G p.Glu77Gln missense ANKRD16 1 57598 1.73617E-5 28799 0 1.31104E-5
10-5931090-G-T p.His76Gln missense ANKRD16 1 57734 1.73208E-5 28867 0 1.90964E-5
10-5931097-G-A p.Pro74Leu missense ANKRD16 1 58866 1.69877E-5 29433 0 4.34737E-6
10-5931098-G-A p.Pro74Ser missense ANKRD16 1 58980 1.69549E-5 29490 0 NA
10-5931106-T-C p.Tyr71Cys missense ANKRD16 1 60180 1.66168E-5 30090 0 NA
10-5931113-G-C p.Arg69Gly missense ANKRD16 2 60444 3.30885E-5 30222 0 NA
10-5931132-C-T p.Met62Ile missense ANKRD16 1 60138 1.66284E-5 30069 0 1.30233E-5
10-5931134-T-C p.Met62Val missense ANKRD16 76 59892 0.00126895 29946 1 0.00297619
10-5931136-C-T p.Gly61Asp missense ANKRD16 1 59546 1.67937E-5 29773 0 1.3068E-5
10-5931144-C-T p.Glu58Glu synonymous ANKRD16 1 58722 1.70294E-5 29361 0 NA
10-5931147-G-A p.Ala57Ala synonymous ANKRD16 1 58058 1.72242E-5 29029 0 6.25E-4
10-5931156-G-C p.Ala54Ala synonymous ANKRD16 1 56810 1.76025E-5 28405 0 NA
10-5931158-C-G p.Ala54Pro missense ANKRD16 23 56274 4.08714E-4 28137 0 7.66675E-4
10-5931164-C-A p.Val52Leu missense ANKRD16 4 54772 7.303E-5 27386 0 6.25E-4
10-5931182-G-A p.Arg46Cys missense ANKRD16 3 50648 5.92323E-5 25324 0 NA
10-5931184-G-A p.Ala45Val missense ANKRD16 1 50368 1.98539E-5 25184 0 3.20123E-5
10-5931187-G-GCGCA p.Ala44fs frameshift ANKRD16 1 49834 2.00666E-5 24917 0 1.28082E-4
10-5931191-A-G p.Cys43Arg missense ANKRD16 3 49040 6.11745E-5 24520 0 1.14025E-5
10-5931198-G-A p.Leu40Leu synonymous ANKRD16 1 47870 2.08899E-5 23935 0 1.23756E-5
10-5931207-C-G p.Gly37Gly synonymous ANKRD16 1 45512 2.19722E-5 22756 0 NA
10-5931209-C-T p.Gly37Arg missense ANKRD16 2 44728 4.47147E-5 22364 0 0.00126904
10-5931213-C-A p.Pro35Pro synonymous ANKRD16 1 43728 2.28686E-5 21864 0 1.82375E-5
10-5931214-G-C p.Pro35Arg missense ANKRD16 3 43544 6.88958E-5 21772 0 3.66206E-5
10-5931217-C-T p.Gly34Glu missense ANKRD16 7 43156 1.62202E-4 21578 0 9.03002E-5
10-5931219-C-T p.Pro33Pro synonymous ANKRD16 1 42726 2.3405E-5 21363 0 NA
10-5931223-C-G p.Cys32Ser missense ANKRD16 9 42310 2.12716E-4 21155 0 7.29376E-4
10-5931230-C-T p.Gly30Arg missense ANKRD16 1251 41328 0.03027 20664 30 0.0985979
10-5931248-C-T p.Glu24Lys missense ANKRD16 1 39796 2.51282E-5 19898 0 NA
10-5931259-C-A p.Arg20Leu missense ANKRD16 1 38296 2.61124E-5 19148 0 8.45166E-5
10-5931278-C-T p.Val14Met missense ANKRD16 3 37044 8.09848E-5 18522 1 2.09688E-4
10-5931289-A-C p.Leu10Arg missense ANKRD16 1 32510 3.07598E-5 16255 0 NA
10-5931290-G-A p.Leu10Phe missense ANKRD16 1 32508 3.07617E-5 16254 0 NA
10-5931291-G-GCGCCGCGGGTCCCCGGGCTGGGCCAT p.Leu10fs frameshift ANKRD16 2 32356 6.18123E-5 16178 0 6.50322E-5
10-5931305-C-T p.Gly5Arg missense ANKRD16 94 31390 0.00299458 15695 1 0.00881932
10-5931324-G-A c.-7C>T 5_prime_UTR_premature_start_codon_gain ANKRD16 3 30692 9.77453E-5 15346 0 NA
10-5931369-G-A c.-52C>T 5_prime_UTR_premature_start_codon_gain ANKRD16 1 29112 3.43501E-5 14556 0 NA
10-5931417-C-G c.-100G>C 5_prime_UTR_premature_start_codon_gain ANKRD16 1 25224 3.96448E-5 12612 0 NA
10-5931581-G-A c.-264C>T 5_prime_UTR_premature_start_codon_gain ANKRD16 2 8726 2.292E-4 4363 0 NA
10-5931598-G-A c.-281C>T 5_prime_UTR_premature_start_codon_gain ANKRD16 1 6538 1.52952E-4 3269 0 NA