Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
10-92672624-C-A p.Ter320Leuext*? stop_lost ANKRD1 1 82902 1.20624E-5 41451 0 NA
10-92672636-A-G p.Ile316Thr missense ANKRD1 2 82876 2.41324E-5 41438 0 1.64737E-5
10-92672639-C-T p.Arg315His missense ANKRD1 2 82880 2.41313E-5 41440 0 5.76568E-5
10-92672640-G-A p.Arg315Cys missense ANKRD1 4 82880 4.82625E-5 41440 0 2.39187E-5
10-92672667-G-A p.Leu306Phe missense ANKRD1 1 82870 1.20671E-5 41435 0 NA
10-92672673-C-G p.Asp304His missense ANKRD1 1 82812 1.20755E-5 41406 0 NA
10-92672674-G-A p.Phe303Phe synonymous ANKRD1 2 82806 2.41528E-5 41403 0 2.47097E-5
10-92672675-A-C p.Phe303Cys missense ANKRD1 2 82804 2.41534E-5 41402 0 1.64731E-5
10-92672676-A-G p.Phe303Leu missense ANKRD1 1 82818 1.20747E-5 41409 0 8.23655E-6
10-92672678-A-G p.Ile302Thr missense ANKRD1 1 82824 1.20738E-5 41412 0 3.18512E-5
10-92672694-T-C p.Asn297Asp missense ANKRD1 2 82700 2.41838E-5 41350 0 4.00734E-6
10-92672702-T-C p.His294Arg missense ANKRD1 6 82646 7.25988E-5 41323 0 2.47097E-5
10-92672712-G-T p.Leu291Met missense ANKRD1 1 82584 1.21089E-5 41292 0 8.23683E-6
10-92672719-C-T p.Pro288Pro synonymous ANKRD1 1 82448 1.21289E-5 41224 0 7.41375E-5
10-92672732-G-C p.Ala284Gly missense+splice_region ANKRD1 3 82232 3.64821E-5 41116 0 6.3678E-5
10-92675309-G-C p.Ile280Met missense ANKRD1 1 82764 1.20825E-5 41382 0 NA
10-92675309-G-T p.Ile280Ile synonymous ANKRD1 1 82764 1.20825E-5 41382 0 8.29614E-6
10-92675311-T-C p.Ile280Val missense ANKRD1 6 82782 7.24795E-5 41391 0 3.31631E-5
10-92675315-G-A p.Leu278Leu synonymous ANKRD1 1 82790 1.20788E-5 41395 0 NA
10-92675321-C-G p.Ala276Ala synonymous ANKRD1 1 82782 1.20799E-5 41391 0 5.79125E-5
10-92675322-G-A p.Ala276Val missense ANKRD1 272 82774 0.00328606 41387 0 0.00286135
10-92675325-C-G p.Gly275Ala missense ANKRD1 1 82824 1.20738E-5 41412 0 NA
10-92675325-C-T p.Gly275Asp missense ANKRD1 1 82824 1.20738E-5 41412 0 NA
10-92675328-T-C p.Tyr274Cys missense ANKRD1 1 82800 1.20773E-5 41400 0 6.36902E-5
10-92675329-A-G p.Tyr274His missense ANKRD1 4 82802 4.8308E-5 41401 0 9.95714E-5
10-92675330-C-T p.Met273Ile missense ANKRD1 1 82814 1.20753E-5 41407 0 8.2575E-6
10-92675331-A-G p.Met273Thr missense ANKRD1 19 82822 2.29408E-4 41411 0 4.14065E-4
10-92675343-C-T p.Arg269Gln missense ANKRD1 1 82782 1.20799E-5 41391 0 1.91083E-4
10-92675359-G-A p.Arg264Cys missense ANKRD1 1 82766 1.20823E-5 41383 0 3.98368E-6
10-92675365-G-A p.Leu262Leu synonymous ANKRD1 1 82770 1.20817E-5 41385 0 3.1841E-5
10-92675373-G-A p.Ala259Val missense ANKRD1 1 82764 1.20825E-5 41382 0 3.18492E-5
10-92675388-G-C p.Thr254Ser missense ANKRD1 1 82742 1.20858E-5 41371 0 3.98476E-6
10-92675390-A-G p.Asp253Asp synonymous ANKRD1 2 82736 2.41733E-5 41368 0 1.99244E-5
10-92675394-C-G p.Gly252Ala missense ANKRD1 1 82766 1.20823E-5 41383 0 3.98559E-6
10-92675399-C-CT c.751-2_751-1insA splice_acceptor ANKRD1 1 82764 1.20825E-5 41382 0 NA
10-92675534-C-T c.750+5G>A splice_region ANKRD1 4 82774 4.83244E-5 41387 0 2.473E-5
10-92675553-T-C p.Asn246Asp missense ANKRD1 2 82724 2.41768E-5 41362 0 6.37918E-5
10-92675554-G-C p.Leu245Leu synonymous ANKRD1 1 82734 1.20869E-5 41367 0 NA
10-92675557-G-A p.Asp244Asp synonymous ANKRD1 3 82722 3.6266E-5 41361 0 3.18756E-5
10-92675566-A-G p.Cys241Cys synonymous ANKRD1 2 82700 2.41838E-5 41350 0 3.98264E-6
10-92675567-C-T p.Cys241Tyr missense ANKRD1 3 82698 3.62766E-5 41349 0 1.64913E-5
10-92675570-G-A p.Ala240Val missense ANKRD1 1 82662 1.20975E-5 41331 0 8.24742E-6
10-92675572-G-T p.Ile239Ile synonymous ANKRD1 1 82680 1.20948E-5 41340 0 3.98295E-6
10-92675573-A-G p.Ile239Thr missense ANKRD1 2 82686 2.41879E-5 41343 0 1.59314E-5
10-92675579-T-C p.His237Arg missense ANKRD1 2 82646 2.41996E-5 41323 0 2.47619E-5
10-92675581-C-T p.Glu236Glu synonymous ANKRD1 1 82604 1.2106E-5 41302 0 NA
10-92675583-C-T p.Glu236Lys missense ANKRD1 4 82592 4.84308E-5 41296 0 6.37796E-5
10-92675584-C-T p.Ala235Ala synonymous ANKRD1 2 82584 2.42178E-5 41292 0 3.19163E-5
10-92675584-C-A p.Ala235Ala synonymous ANKRD1 1 82584 1.21089E-5 41292 0 NA
10-92675585-G-A p.Ala235Val missense ANKRD1 1 82548 1.21142E-5 41274 0 NA
10-92675592-C-G p.Glu233Gln missense ANKRD1 1 82516 1.21189E-5 41258 0 8.27595E-6
10-92675606-C-G p.Arg228Thr missense ANKRD1 1 82402 1.21356E-5 41201 0 NA
10-92675611-C-T p.Ala226Ala synonymous ANKRD1 1 82482 1.21239E-5 41241 0 3.98667E-6
10-92675620-C-T p.Leu223Leu synonymous ANKRD1 1 82506 1.21203E-5 41253 0 3.9867E-6
10-92675626-T-A p.Thr221Thr synonymous ANKRD1 1 82418 1.21333E-5 41209 0 3.98829E-6
10-92675627-GTGCTGAGCAACTGGAAAAT-G p.Leu218fs frameshift ANKRD1 1 82384 1.21383E-5 41192 0 NA
10-92675637-A-C p.Leu218Val missense+splice_region ANKRD1 1 82156 1.2172E-5 41078 0 NA
10-92675645-A-G c.652-8T>C splice_region ANKRD1 2 81938 2.44087E-5 40969 0 6.672E-5
10-92675922-G-A c.651+6C>T splice_region ANKRD1 3 82546 3.63434E-5 41273 0 2.48797E-5
10-92675922-G-T c.651+6C>A splice_region ANKRD1 1 82546 1.21145E-5 41273 0 8.29325E-6
10-92675983-A-G p.Leu199Pro missense ANKRD1 1 83012 1.20465E-5 41506 0 NA
10-92676019-G-A p.Ser187Phe missense ANKRD1 16 82360 1.94269E-4 41180 1 6.86893E-4
10-92676025-A-G p.Leu185Pro missense+splice_region ANKRD1 1 82224 1.21619E-5 41112 0 NA
10-92676028-T-A c.553-2A>T splice_acceptor ANKRD1 1 82106 1.21794E-5 41053 0 NA
10-92676031-A-AC c.553-6_553-5insG splice_region ANKRD1 1 82040 1.21892E-5 41020 0 8.29765E-6
10-92676033-C-T c.553-7G>A splice_region ANKRD1 1 81942 1.22038E-5 40971 0 NA
10-92677483-A-G c.552+6T>C splice_region ANKRD1 3 82340 3.64343E-5 41170 0 7.97391E-6
10-92677492-A-G p.Asp183Asp synonymous ANKRD1 2 82444 2.42589E-5 41222 0 6.37064E-5
10-92677496-C-T p.Arg182His missense ANKRD1 11 82516 1.33307E-4 41258 0 1.07383E-4
10-92677497-G-A p.Arg182Cys missense ANKRD1 5 82514 6.05958E-5 41257 0 3.18784E-5
10-92677503-C-T p.Glu180Lys missense ANKRD1 3 82582 3.63275E-5 41291 0 8.25396E-6
10-92677504-G-A p.Ile179Ile synonymous ANKRD1 1 82606 1.21057E-5 41303 0 NA
10-92677510-G-T p.Ala177Ala synonymous ANKRD1 2 82642 2.42008E-5 41321 0 2.3905E-5
10-92677518-C-T p.Ala175Thr missense ANKRD1 2 82664 2.41943E-5 41332 0 NA
10-92677537-A-G p.Ile168Ile synonymous ANKRD1 1 82696 1.20925E-5 41348 0 3.18471E-5
10-92677545-A-G p.Leu166Leu synonymous ANKRD1 29 82656 3.50852E-4 41328 0 6.3674E-5
10-92677547-T-C p.His165Arg missense ANKRD1 1 82642 1.21004E-5 41321 0 NA
10-92677560-A-G p.Cys161Arg missense ANKRD1 1 82628 1.21024E-5 41314 0 NA
10-92677561-T-C p.Ala160Ala synonymous ANKRD1 8 82618 9.68312E-5 41309 0 6.36699E-5
10-92677567-A-G p.His158His synonymous ANKRD1 1 82574 1.21103E-5 41287 0 6.25E-4
10-92677581-G-A p.Arg154Trp missense ANKRD1 2 82402 2.42713E-5 41201 0 8.27719E-6
10-92677592-C-T c.454-5G>A splice_region ANKRD1 1 82182 1.21681E-5 41091 0 NA
10-92678614-A-G c.453+8T>C splice_region ANKRD1 2 81910 2.4417E-5 40955 0 6.38896E-5
10-92678621-C-T c.453+1G>A splice_donor ANKRD1 2 82072 2.43688E-5 41036 0 NA
10-92678626-T-A p.Asp150Val missense ANKRD1 6 82178 7.30122E-5 41089 0 1.91975E-4
10-92678634-A-G p.Asp147Asp synonymous ANKRD1 9 82350 1.0929E-4 41175 0 2.88129E-4
10-92678658-G-T p.Phe139Leu missense ANKRD1 2 82608 2.42107E-5 41304 0 7.38742E-4
10-92678661-T-C p.Lys138Lys synonymous ANKRD1 1 82614 1.21045E-5 41307 0 NA
10-92678671-A-T p.Val135Glu missense ANKRD1 1 82612 1.21048E-5 41306 0 3.99418E-6
10-92678681-T-G p.Lys132Gln missense ANKRD1 2 82594 2.42148E-5 41297 0 NA
10-92678687-C-A p.Glu130* stop_gained ANKRD1 3 82562 3.63363E-5 41281 0 3.19882E-5
10-92678706-C-T p.Thr123Thr synonymous ANKRD1 62 82322 7.5314E-4 41161 0 0.00352467
10-92678707-G-A p.Thr123Met missense ANKRD1 26 82302 3.1591E-4 41151 0 2.94338E-4
10-92678711-G-C p.Pro122Ala missense ANKRD1 1 82274 1.21545E-5 41137 0 3.33957E-5
10-92678723-G-T p.Pro118Thr missense ANKRD1 1 81970 1.21996E-5 40985 0 4.08217E-6
10-92678727-C-T p.Thr116Thr splice_region+synonymous ANKRD1 651 81628 0.0079752 40814 33 0.0146498
10-92678727-C-A p.Thr116Thr splice_region+synonymous ANKRD1 1 81710 1.22384E-5 40855 0 NA
10-92678728-G-A p.Thr116Met missense+splice_region ANKRD1 16 81660 1.95934E-4 40830 0 1.80871E-4
10-92678882-C-T c.345+6G>A splice_region ANKRD1 1 82910 1.20613E-5 41455 0 NA
10-92678887-C-A c.345+1G>T splice_donor ANKRD1 1 82912 1.2061E-5 41456 0 1.65101E-5
10-92678901-T-G p.Glu111Ala missense ANKRD1 2 82906 2.41237E-5 41453 0 NA
10-92678904-G-T p.Pro110Gln missense ANKRD1 3 82912 3.61829E-5 41456 0 3.26328E-5
10-92678905-G-A p.Pro110Ser missense ANKRD1 4 82916 4.82416E-5 41458 0 3.25182E-5
10-92678914-C-A p.Val107Leu missense ANKRD1 76 82894 9.16834E-4 41447 0 0.00219994
10-92678920-G-A p.Pro105Ser missense ANKRD1 28 82900 3.37756E-4 41450 0 2.32311E-4
10-92678933-C-G p.Arg100Ser missense ANKRD1 3 82896 3.61899E-5 41448 0 8.00538E-6
10-92678968-T-C p.Ile89Val missense ANKRD1 1 82766 1.20823E-5 41383 0 NA
10-92678977-C-G p.Asp86His missense ANKRD1 9 82704 1.08822E-4 41352 0 3.32907E-4
10-92678983-AATTTT-A p.Glu82fs frameshift ANKRD1 1 82674 1.20957E-5 41337 0 8.80468E-6
10-92678992-G-C p.Leu81Val missense ANKRD1 2 82574 2.42207E-5 41287 1 1.22233E-5
10-92678994-T-TATATATACATA p.Lys80fs frameshift ANKRD1 1 82550 1.21139E-5 41275 0 NA
10-92678999-T-A p.Arg78Ser missense ANKRD1 13 82436 1.57698E-4 41218 0 5.04541E-4
10-92679007-C-T p.Glu76Lys missense ANKRD1 1 82194 1.21663E-5 41097 0 NA
10-92679010-G-GT p.Leu75fs frameshift ANKRD1 10 82048 1.2188E-4 41024 0 1.27992E-4
10-92679030-AAAAG-A c.208-9_208-6delCTTT splice_region ANKRD1 2 81018 2.46859E-5 40509 0 NA
10-92679936-C-T p.Arg66Gln missense ANKRD1 86 83246 0.00103308 41623 0 0.002261
10-92679937-G-C p.Arg66Gly missense ANKRD1 22 83262 2.64226E-4 41631 0 0.00142506
10-92679937-G-A p.Arg66* stop_gained ANKRD1 1 83262 1.20103E-5 41631 0 8.23737E-6
10-92679937-G-GTTGTTTCTC p.Gln65_Arg66insGluLysGln conservative_inframe_insertion ANKRD1 1 83262 1.20103E-5 41631 0 NA
10-92679946-C-T p.Glu63Lys missense ANKRD1 3 83280 3.60231E-5 41640 0 7.16258E-5
10-92679963-T-TC p.Glu57fs frameshift ANKRD1 1 83284 1.20071E-5 41642 0 NA
10-92679967-C-T p.Gly56Arg missense ANKRD1 1 83288 1.20065E-5 41644 0 5.03525E-4
10-92679968-C-G p.Leu55Leu synonymous ANKRD1 2 83288 2.40131E-5 41644 0 6.36902E-5
10-92679979-G-C p.Pro52Ala missense ANKRD1 7 83272 8.40619E-5 41636 0 5.03525E-4
10-92679979-G-A p.Pro52Ser missense ANKRD1 2 83274 2.40171E-5 41637 0 8.23723E-6
10-92679983-G-C p.Ala50Ala synonymous ANKRD1 25 83278 3.00199E-4 41639 0 0.0020141
10-92679985-C-G p.Ala50Pro missense ANKRD1 158 83266 0.00189753 41633 1 0.00312321
10-92680000-G-A p.Leu45Leu synonymous ANKRD1 4 83238 4.8055E-5 41619 1 NA
10-92680000-G-C p.Leu45Val missense ANKRD1 1 83238 1.20137E-5 41619 0 7.56062E-5
10-92680002-T-C p.Asp44Gly missense ANKRD1 1 83242 1.20132E-5 41621 0 2.78529E-5
10-92680004-C-G p.Glu43Asp missense ANKRD1 2 83230 2.40298E-5 41615 0 NA
10-92680008-T-C p.Gln42Arg missense ANKRD1 1 83232 1.20146E-5 41616 0 3.97867E-6
10-92680009-G-A p.Gln42* stop_gained ANKRD1 1 83232 1.20146E-5 41616 0 NA
10-92680018-A-G p.Leu39Leu synonymous ANKRD1 2 83222 2.40321E-5 41611 0 NA
10-92680025-A-G p.Ala36Ala synonymous ANKRD1 33 83206 3.96606E-4 41603 0 1.72968E-4
10-92680031-T-C p.Glu34Glu synonymous ANKRD1 1 83174 1.2023E-5 41587 0 2.78563E-5
10-92680038-T-G p.Glu32Ala missense ANKRD1 1 83154 1.20259E-5 41577 0 NA
10-92680039-C-T p.Glu32Lys missense ANKRD1 1 83156 1.20256E-5 41578 0 NA
10-92680039-C-G p.Glu32Gln missense ANKRD1 1 83156 1.20256E-5 41578 0 NA
10-92680039-C-CTCCATCTCTGAAATCCTCAGGAAGGAATTCCCCTGCCTCCCCATTGCCATTCTTCTT p.Gly31_Glu32insLysLysAsnGlyAsnGlyGluAlaGlyGluPheLeuProGluAspPheArgAspGly conservative_inframe_insertion ANKRD1 1 83156 1.20256E-5 41578 0 3.18471E-5
10-92680041-C-T p.Gly31Glu missense ANKRD1 2 83146 2.40541E-5 41573 0 8.23655E-6
10-92680064-G-T p.Phe23Leu missense ANKRD1 1 82956 1.20546E-5 41478 0 NA
10-92680074-G-T p.Ala20Glu missense ANKRD1 2 82836 2.41441E-5 41418 0 8.23737E-6
10-92680074-G-A p.Ala20Val missense ANKRD1 1 82836 1.2072E-5 41418 0 8.23737E-6
10-92680079-C-T p.Gly18Gly synonymous ANKRD1 4 82794 4.83127E-5 41397 0 NA
10-92680084-T-C p.Asn17Asp missense ANKRD1 2 82694 2.41856E-5 41347 0 NA
10-92680110-G-A c.28-5C>T splice_region ANKRD1 1 82164 1.21708E-5 41082 0 NA
10-92680111-A-G c.28-6T>C splice_region ANKRD1 12 82152 1.46071E-4 41076 0 5.58668E-5
10-92680754-A-T c.27+4T>A splice_region ANKRD1 5 82152 6.08628E-5 41076 0 9.55049E-5
10-92680757-C-A c.27+1G>T splice_donor ANKRD1 2 82226 2.43232E-5 41113 0 3.18329E-5
10-92680763-C-T p.Glu8Lys missense ANKRD1 1 82308 1.21495E-5 41154 0 NA
10-92680770-T-C p.Lys5Lys synonymous ANKRD1 1 82370 1.21403E-5 41185 0 4.12759E-5
10-92680775-G-C p.Leu4Val missense ANKRD1 1 82394 1.21368E-5 41197 0 NA
10-92680782-C-G p.Met1? start_lost ANKRD1 2 82414 2.42677E-5 41207 0 6.25E-4
10-92680782-C-A p.Met1? start_lost ANKRD1 1 82414 1.21339E-5 41207 0 3.98533E-6
10-92680784-T-C p.Met1? start_lost ANKRD1 1 82390 1.21374E-5 41195 0 3.1839E-5
10-92680818-G-A c.-34C>T 5_prime_UTR_premature_start_codon_gain ANKRD1 184 82130 0.00224035 41065 1 0.00503377
10-92680834-G-C c.-50C>G 5_prime_UTR_premature_start_codon_gain ANKRD1 2 81672 2.44882E-5 40836 0 NA
10-92680859-C-T c.-75G>A 5_prime_UTR_premature_start_codon_gain ANKRD1 2 80400 2.48756E-5 40200 0 NA
10-92680863-G-A c.-79C>T 5_prime_UTR_premature_start_codon_gain ANKRD1 41 80028 5.12321E-4 40014 0 0.00130582
10-92680886-G-A c.-102C>T 5_prime_UTR_premature_start_codon_gain ANKRD1 34 77680 4.37693E-4 38840 0 1.27397E-4
10-92680915-G-A c.-131C>T 5_prime_UTR_premature_start_codon_gain ANKRD1 8 72492 1.10357E-4 36246 0 9.5584E-5
10-92680946-A-T c.-162T>A 5_prime_UTR_premature_start_codon_gain ANKRD1 1 64968 1.53922E-5 32484 0 NA
10-92680951-G-A c.-167C>T 5_prime_UTR_premature_start_codon_gain ANKRD1 10 63690 1.57011E-4 31845 0 2.86642E-4