Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-112526964-T-G p.Glu1913Asp missense ANAPC1 1 40208 2.48707E-5 20104 0 2.95341E-5
2-112529930-T-C p.Ile1903Val missense ANAPC1 1 80184 1.24713E-5 40092 0 1.288E-4
2-112529965-T-C p.Tyr1891Cys missense ANAPC1 1 73316 1.36396E-5 36658 0 2.12639E-5
2-112534534-C-A p.Arg1829Leu missense ANAPC1 1 49256 2.03021E-5 24628 0 NA
2-112534617-C-T p.Gly1801Gly synonymous ANAPC1 63 53608 0.0011752 26804 0 0.0221519
2-112534623-T-C p.Arg1799Arg synonymous ANAPC1 1 53474 1.87007E-5 26737 0 6.2422E-4
2-112534631-T-C p.Ile1797Val missense ANAPC1 1 52276 1.91292E-5 26138 0 1.29199E-4
2-112534638-GAAGAGGA-G c.5386-11_5386-5delTCCTCTT splice_region ANAPC1 1 51366 1.94681E-5 25683 0 1.28502E-4
2-112536264-G-T p.Ile1791Ile synonymous ANAPC1 29 118 0.245763 59 14 1.0
2-112540039-C-T p.Ala1703Ala synonymous ANAPC1 1 78952 1.26659E-5 39476 0 4.61885E-5
2-112540065-C-G p.Gly1695Arg missense ANAPC1 3 80192 3.74102E-5 40096 0 1.51973E-4
2-112540081-G-A p.Ser1689Ser synonymous ANAPC1 2 81070 2.467E-5 40535 0 1.43375E-4
2-112550082-G-A p.Leu1523Leu synonymous ANAPC1 1 81098 1.23308E-5 40549 0 2.86606E-4
2-112551665-T-A p.Asn1503Ile missense ANAPC1 1 71480 1.39899E-5 35740 0 NA
2-112551673-G-A p.Ser1500Ser synonymous ANAPC1 3555 39798 0.0893261 19899 0 0.269931
2-112551803-TTC-T c.4464+5_4464+6delGA splice_region ANAPC1 2 81446 2.45561E-5 40723 0 1.25246E-4
2-112551827-A-T p.Ser1483Thr missense ANAPC1 1 81684 1.22423E-5 40842 0 1.2005E-5
2-112551870-G-A p.Ala1468Ala synonymous ANAPC1 1 81716 1.22375E-5 40858 0 NA
2-112551886-T-C p.Tyr1463Cys missense ANAPC1 1 81610 1.22534E-5 40805 0 8.09756E-6
2-112551903-G-A c.4374-3C>T splice_region ANAPC1 1 81150 1.23229E-5 40575 0 NA
2-112551905-A-G c.4374-5T>C splice_region ANAPC1 15 81106 1.84943E-4 40553 0 1.9118E-4
2-112578980-G-A p.Asp1014Asp synonymous ANAPC1 2 41846 4.77943E-5 20923 0 0.00172976
2-112580057-A-G p.Ile978Thr missense ANAPC1 1 13296 7.52106E-5 6648 0 NA
2-112582566-A-C p.Leu930Trp missense ANAPC1 23 81848 2.81009E-4 40924 0 9.15809E-4
2-112582575-G-A p.Ala927Val missense ANAPC1 1 81858 1.22163E-5 40929 0 6.36902E-5
2-112582577-T-C p.Leu926Leu synonymous ANAPC1 1 81856 1.22166E-5 40928 0 NA
2-112582591-A-T p.Ser922Thr missense ANAPC1 9 81864 1.09938E-4 40932 0 8.2428E-5
2-112582611-AACCTATAAGAGAATAAAACATAAAGTTATTAAGCAGAACAGTAAATAATATTGTTTTAAGTGTTTGACATAAAAGCACAGTCTAAATAAAAGTC-A p.Arg914fs frameshift ANAPC1 6 81854 7.33012E-5 40927 2 NA
2-112582616-A-G c.2742-3T>C splice_region ANAPC1 26 81844 3.17678E-4 40922 0 0.00206993
2-112582620-G-A c.2742-7C>T splice_region ANAPC1 108 81850 0.00131949 40925 0 0.00270718
2-112582698-TAA-T c.2741+8_2741+9delTT splice_region ANAPC1 2 81868 2.44296E-5 40934 0 6.36983E-5
2-112582713-T-C p.Glu912Glu synonymous ANAPC1 178 81866 0.00217428 40933 1 0.00286073
2-112582731-C-G p.Leu906Phe missense ANAPC1 2 81882 2.44254E-5 40941 0 1.65467E-5
2-112582740-G-A p.Pro903Pro synonymous ANAPC1 2 81874 2.44278E-5 40937 0 3.21337E-5
2-112582752-G-T c.2705-8C>A splice_region ANAPC1 1 81860 1.2216E-5 40930 0 NA
2-112583350-T-C c.2704+4A>G splice_region ANAPC1 63 81790 7.70265E-4 40895 1 0.00117827
2-112583363-T-C p.Ile899Val missense ANAPC1 1 81836 1.22196E-5 40918 0 NA
2-112583366-T-C p.Arg898Gly missense ANAPC1 3 81842 3.6656E-5 40921 0 2.39055E-5
2-112583374-T-C p.Tyr895Cys missense ANAPC1 15 81852 1.83258E-4 40926 0 4.02278E-4
2-112583374-T-A p.Tyr895Phe missense ANAPC1 2 81852 2.44343E-5 40926 0 3.18431E-5
2-112583383-G-C p.Ser892Cys missense ANAPC1 2 81850 2.44349E-5 40925 0 8.25955E-6
2-112583390-C-T p.Asp890Asn missense ANAPC1 1 81854 1.22169E-5 40927 0 6.77097E-5
2-112583402-T-C p.Ser886Gly missense ANAPC1 1 81852 1.22172E-5 40926 0 NA
2-112583409-A-C p.Gly883Gly synonymous ANAPC1 1 81848 1.22178E-5 40924 0 NA
2-112583417-T-C p.Ile881Val missense ANAPC1 1 81848 1.22178E-5 40924 0 3.9834E-6
2-112583432-T-G p.Ser876Arg missense+splice_region ANAPC1 1 81496 1.22705E-5 40748 0 NA
2-112583432-T-TCAAGA c.2626-1_2626insTCTTG splice_acceptor ANAPC1 2 81492 2.45423E-5 40746 1 NA
2-112588877-T-C p.Arg871Gly missense ANAPC1 4 80890 4.94499E-5 40445 0 4.15296E-5
2-112588894-C-T p.Gly865Glu missense ANAPC1 3 80900 3.70828E-5 40450 0 9.55597E-5
2-112588896-A-G p.Pro864Pro synonymous ANAPC1 1 80910 1.23594E-5 40455 0 3.9846E-6
2-112588897-G-A p.Pro864Leu missense ANAPC1 6 80910 7.41565E-5 40455 0 6.06796E-4
2-112588904-A-G p.Tyr862His missense ANAPC1 2 80924 2.47145E-5 40462 0 0.00132979
2-112588905-A-G p.Pro861Pro synonymous ANAPC1 1 80924 1.23573E-5 40462 0 NA
2-112588911-A-G p.Pro859Pro synonymous ANAPC1 1 80934 1.23557E-5 40467 0 NA
2-112588916-G-A p.Pro858Ser missense ANAPC1 2 80930 2.47127E-5 40465 0 8.24063E-6
2-112588917-C-T p.Met857Ile missense ANAPC1 3 80932 3.70682E-5 40466 0 1.27446E-4
2-112588922-C-T p.Gly856Arg missense ANAPC1 189 80900 0.00233622 40450 1 0.00287549
2-112588926-A-G p.Gly854Gly synonymous ANAPC1 1 80930 1.23564E-5 40465 0 3.18471E-5
2-112588929-C-T p.Lys853Lys synonymous ANAPC1 58 80932 7.16651E-4 40466 1 0.00117864
2-112588929-C-G p.Lys853Asn missense ANAPC1 1 80940 1.23548E-5 40470 0 3.9827E-6
2-112588949-A-G p.Trp847Arg missense ANAPC1 1 80934 1.23557E-5 40467 0 3.9833E-6
2-112588974-C-T p.Thr838Thr synonymous ANAPC1 1 80896 1.23616E-5 40448 0 3.20015E-5
2-112588975-G-A p.Thr838Met missense ANAPC1 806 80632 0.00999603 40316 4 0.0133511
2-112588976-TAAA-T p.Phe837del conservative_inframe_deletion ANAPC1 1 80894 1.23619E-5 40447 0 NA
2-112588987-G-T p.Pro834Gln missense ANAPC1 1 80874 1.23649E-5 40437 0 9.56938E-5
2-112590789-C-T c.2476+8G>A splice_region ANAPC1 2 80372 2.48843E-5 40186 0 4.15064E-5
2-112590798-T-C p.Pro825Pro splice_region+synonymous ANAPC1 1 80570 1.24116E-5 40285 0 6.38325E-5
2-112590806-T-C p.Ile823Val missense ANAPC1 2 80844 2.4739E-5 40422 0 9.75182E-6
2-112590825-A-G p.Thr816Thr synonymous ANAPC1 624 80600 0.00774194 40300 8 0.03625
2-112590830-T-G p.Arg815Arg synonymous ANAPC1 1 81204 1.23147E-5 40602 0 NA
2-112590831-G-C p.Val814Val synonymous ANAPC1 1 81202 1.2315E-5 40601 0 NA
2-112590839-T-C p.Thr812Ala missense ANAPC1 2 81252 2.46148E-5 40626 0 1.39002E-4
2-112590850-C-T p.Arg808Lys missense ANAPC1 1 81242 1.23089E-5 40621 0 1.88398E-5
2-112590852-A-G p.Tyr807Tyr synonymous ANAPC1 1 81250 1.23077E-5 40625 0 NA
2-112590858-A-C p.His805Gln missense ANAPC1 5 81242 6.15445E-5 40621 0 1.7995E-5
2-112590860-G-A p.His805Tyr missense ANAPC1 1 81048 1.23384E-5 40524 0 NA
2-112590867-A-G p.Tyr802Tyr synonymous ANAPC1 2 81054 2.46749E-5 40527 0 1.75119E-5
2-112592187-A-C p.Leu793Trp missense ANAPC1 1 80548 1.2415E-5 40274 0 NA
2-112592194-C-T p.Val791Ile missense ANAPC1 1 80746 1.23845E-5 40373 0 NA
2-112592195-G-A p.Leu790Leu synonymous ANAPC1 777 80618 0.00963805 40309 27 0.0203302
2-112592197-G-C p.Leu790Val missense ANAPC1 1 80826 1.23723E-5 40413 0 NA
2-112592218-T-G p.Ile783Leu missense ANAPC1 1 81456 1.22766E-5 40728 0 NA
2-112592222-T-A p.Glu781Asp missense ANAPC1 1 81518 1.22672E-5 40759 0 3.19448E-5
2-112592223-T-A p.Glu781Val missense ANAPC1 2 81524 2.45327E-5 40762 0 1.21863E-5
2-112592249-C-T p.Glu772Glu synonymous ANAPC1 262 81678 0.00320772 40839 3 0.00896103
2-112592259-A-G p.Val769Ala missense ANAPC1 2 81744 2.44666E-5 40872 0 9.56389E-5
2-112592272-C-T p.Val765Ile missense ANAPC1 1 81750 1.22324E-5 40875 0 5.78101E-5
2-112592278-A-T p.Phe763Ile missense ANAPC1 2 81734 2.44696E-5 40867 0 1.23533E-4
2-112592284-C-T p.Ala761Thr missense ANAPC1 5 81702 6.1198E-5 40851 0 4.50425E-4
2-112592286-G-C p.Pro760Arg missense ANAPC1 3 81688 3.67251E-5 40844 0 6.61704E-5
2-112592296-TAAAG-T p.Phe756fs frameshift ANAPC1 1 81620 1.22519E-5 40810 0 8.77368E-5
2-112592321-A-C p.Ser748Arg missense ANAPC1 2 81412 2.45664E-5 40706 0 1.74407E-5
2-112592347-C-T p.Asp740Asn missense ANAPC1 3 80336 3.73432E-5 40168 0 4.9613E-5
2-112592371-G-T p.Pro732Thr missense ANAPC1 1 80534 1.24171E-5 40267 0 6.43583E-5
2-112592392-T-C p.Asn725Asp missense ANAPC1 2 80608 2.48114E-5 40304 0 1.68665E-5
2-112592416-G-C p.Gln717Glu missense ANAPC1 1 80256 1.24601E-5 40128 0 5.78283E-5
2-112592438-A-G p.Tyr709Tyr synonymous ANAPC1 1 79462 1.25846E-5 39731 0 4.34684E-6
2-112592452-G-A c.2116-3C>T splice_region ANAPC1 1 77992 1.28218E-5 38996 0 NA
2-112596008-T-G c.2115+7A>C splice_region ANAPC1 1 80498 1.24227E-5 40249 0 3.18512E-5
2-112596012-T-A c.2115+3A>T splice_region ANAPC1 1 80548 1.2415E-5 40274 0 NA
2-112596016-T-A p.Asp705Val missense+splice_region ANAPC1 2 80576 2.48213E-5 40288 0 1.00944E-4
2-112596020-C-A p.Asp704Tyr missense ANAPC1 1 80624 1.24033E-5 40312 0 4.15631E-6
2-112596029-T-C p.Thr701Ala missense ANAPC1 4 80682 4.95774E-5 40341 0 4.07455E-6
2-112596033-G-A p.Ser699Ser synonymous ANAPC1 1 80678 1.2395E-5 40339 0 8.30855E-5
2-112596046-T-C p.Lys695Arg missense ANAPC1 1 80736 1.2386E-5 40368 0 NA
2-112596053-G-T p.Pro693Thr missense ANAPC1 1 80718 1.23888E-5 40359 0 NA
2-112596054-C-A p.Ala692Ala synonymous ANAPC1 1 80700 1.23916E-5 40350 0 8.11939E-6
2-112596059-T-C p.Ile691Val missense ANAPC1 1 80706 1.23907E-5 40353 0 NA
2-112596078-T-C p.Glu684Glu synonymous ANAPC1 9 80664 1.11574E-4 40332 0 6.06061E-4
2-112596081-A-G p.Phe683Phe synonymous ANAPC1 1 80646 1.23999E-5 40323 0 8.30744E-6
2-112600989-A-C p.Asn680Lys missense+splice_region ANAPC1 13 80940 1.60613E-4 40470 0 0.00402685
2-112601001-T-C p.Ala676Ala synonymous ANAPC1 4 80954 4.94108E-5 40477 0 1.65462E-5
2-112601007-G-A p.Arg674Arg synonymous ANAPC1 2 80962 2.47029E-5 40481 0 NA
2-112601008-C-T p.Arg674His missense ANAPC1 4 80960 4.94071E-5 40480 0 6.70241E-4
2-112601009-G-A p.Arg674Cys missense ANAPC1 2 80956 2.47048E-5 40478 0 3.30251E-5
2-112601027-T-C p.Met668Val missense ANAPC1 5 80966 6.17543E-5 40483 0 8.24892E-6
2-112601043-A-G p.Thr662Thr synonymous ANAPC1 1 80964 1.23512E-5 40482 0 NA
2-112601051-A-G p.Phe660Leu missense ANAPC1 1 80964 1.23512E-5 40482 0 3.98295E-6
2-112601102-T-C p.Asn643Asp missense ANAPC1 1 80926 1.2357E-5 40463 0 3.36717E-5
2-112601113-A-T p.Val639Asp missense ANAPC1 1 80930 1.23564E-5 40465 0 3.18512E-5
2-112601118-C-A p.Met637Ile missense ANAPC1 889 80816 0.0110003 40408 10 0.0173333
2-112601151-C-T p.Lys626Lys synonymous ANAPC1 1 80918 1.23582E-5 40459 0 NA
2-112601159-C-T p.Ala624Thr missense ANAPC1 1 80908 1.23597E-5 40454 0 8.84956E-6
2-112601169-C-T p.Thr620Thr synonymous ANAPC1 5 80898 6.18062E-5 40449 0 9.56023E-5
2-112601175-T-C p.Val618Val splice_region+synonymous ANAPC1 1 80894 1.23619E-5 40447 0 1.61662E-5
2-112604711-G-A c.1852+4C>T splice_region ANAPC1 1 79668 1.25521E-5 39834 0 4.15876E-5
2-112604729-G-A p.Ala613Val missense ANAPC1 19 80066 2.37304E-4 40033 0 2.6776E-4
2-112604731-A-T p.Ile612Ile synonymous ANAPC1 7 80098 8.73929E-5 40049 0 6.09756E-4
2-112604743-A-G p.Thr608Thr synonymous ANAPC1 5 80162 6.23737E-5 40081 0 3.1841E-5
2-112604746-G-A p.Ile607Ile synonymous ANAPC1 3 80164 3.74233E-5 40082 0 4.12398E-5
2-112605302-C-T p.Leu597Leu splice_region+synonymous ANAPC1 16936 37668 0.449612 18834 4971 0.628499
2-112605304-G-A p.Leu597Leu splice_region+synonymous ANAPC1 2 77638 2.57606E-5 38819 0 NA
2-112605318-T-G p.His592Pro missense ANAPC1 1 79748 1.25395E-5 39874 0 8.57883E-6
2-112605319-G-C p.His592Asp missense ANAPC1 1 79964 1.25056E-5 39982 0 NA
2-112605344-G-A p.Tyr583Tyr synonymous ANAPC1 2 80940 2.47097E-5 40470 0 NA
2-112605344-G-T p.Tyr583* stop_gained ANAPC1 1 80940 1.23548E-5 40470 0 NA
2-112605350-T-C p.Gly581Gly synonymous ANAPC1 2 81044 2.4678E-5 40522 0 1.66398E-5
2-112605358-G-C p.Gln579Glu missense ANAPC1 1 81110 1.23289E-5 40555 0 NA
2-112605360-T-G p.Gln578Pro missense ANAPC1 1 81138 1.23247E-5 40569 0 NA
2-112605363-A-G p.Phe577Ser missense ANAPC1 1 81196 1.23159E-5 40598 0 4.50591E-5
2-112605377-A-G p.Asn572Asn synonymous ANAPC1 1 81276 1.23038E-5 40638 0 4.11377E-6
2-112605377-A-C p.Asn572Lys missense ANAPC1 2 81272 2.46087E-5 40636 0 3.18471E-5
2-112605381-T-G p.Tyr571Ser missense ANAPC1 8 81280 9.84252E-5 40640 2 0.002442
2-112605381-T-C p.Tyr571Cys missense ANAPC1 1 81280 1.23031E-5 40640 0 6.26174E-4
2-112605385-G-A p.Leu570Phe missense ANAPC1 1 81264 1.23056E-5 40632 0 NA
2-112605393-T-G p.His567Pro missense ANAPC1 1 81304 1.22995E-5 40652 0 NA
2-112605402-G-T p.Ser564* stop_gained ANAPC1 2 81344 2.45869E-5 40672 0 4.34854E-6
2-112605408-T-C p.Asp562Gly missense ANAPC1 1 81336 1.22947E-5 40668 0 NA
2-112608347-T-A c.1650+6A>T splice_region ANAPC1 3 80252 3.73822E-5 40126 0 3.18654E-5
2-112608350-T-C c.1650+3A>G splice_region ANAPC1 5 80302 6.2265E-5 40151 0 6.72043E-4
2-112608356-G-A p.Asp549Asp synonymous ANAPC1 1 80354 1.24449E-5 40177 0 1.67205E-5
2-112608362-T-C p.Ser547Ser synonymous ANAPC1 1 80452 1.24298E-5 40226 0 1.59641E-5
2-112608365-T-C p.Gly546Gly synonymous ANAPC1 5 80474 6.21319E-5 40237 0 2.23001E-4
2-112608368-A-G p.Leu545Leu synonymous ANAPC1 5 80480 6.21272E-5 40240 0 3.18613E-5
2-112608379-T-C p.Ser542Gly missense ANAPC1 1 80574 1.2411E-5 40287 0 NA
2-112608382-G-C p.Leu541Val missense ANAPC1 2 80602 2.48133E-5 40301 0 3.18573E-5
2-112608391-G-C p.Pro538Ala missense ANAPC1 19 80670 2.35527E-4 40335 0 5.09911E-4
2-112608398-A-T p.Val535Val synonymous ANAPC1 2 80674 2.47911E-5 40337 0 3.18512E-5
2-112608399-A-T p.Val535Asp missense ANAPC1 1 80674 1.23956E-5 40337 0 NA
2-112608400-C-T p.Val535Ile missense ANAPC1 1 80670 1.23962E-5 40335 0 5.76749E-5
2-112608410-T-C p.Pro531Pro synonymous ANAPC1 1 80658 1.2398E-5 40329 0 6.37186E-5
2-112608423-C-T p.Arg527Gln missense ANAPC1 4 74560 5.36481E-5 37280 0 0.141727
2-112608424-G-A p.Arg527Trp missense ANAPC1 2 80486 2.4849E-5 40243 0 3.98756E-5
2-112608426-G-C p.Pro526Arg missense ANAPC1 1 80524 1.24187E-5 40262 0 NA
2-112608428-C-T p.Met525Ile missense ANAPC1 1 80542 1.24159E-5 40271 0 NA
2-112608433-T-C p.Thr524Ala missense ANAPC1 54 80560 6.70308E-4 40280 0 9.55475E-4
2-112608444-G-C p.Thr520Arg missense ANAPC1 4 80586 4.96364E-5 40293 0 1.32912E-4
2-112608444-G-A p.Thr520Met missense ANAPC1 2 80586 2.48182E-5 40293 0 NA
2-112608450-G-A p.Ser518Phe missense ANAPC1 1 80652 1.23989E-5 40326 0 4.11306E-6
2-112608468-G-A p.Pro512Leu missense ANAPC1 2 80778 2.47592E-5 40389 0 NA
2-112613957-C-T n.570G>A splice_region ANAPC1 62 51854 0.00119566 25927 0 0.0028142
2-112614184-TG-T c.1515+6delC splice_region ANAPC1 2 81208 2.46281E-5 40604 0 1.22028E-5
2-112614206-G-A p.Tyr500Tyr synonymous ANAPC1 2 81510 2.45369E-5 40755 0 NA
2-112614208-A-T p.Tyr500Asn missense ANAPC1 1 81516 1.22675E-5 40758 0 4.01039E-6
2-112614217-G-A p.Leu497Leu synonymous ANAPC1 2 81534 2.45296E-5 40767 0 8.46224E-6
2-112614228-C-T p.Gly493Asp missense ANAPC1 2 81566 2.452E-5 40783 0 7.99744E-6
2-112614239-C-A p.Leu489Leu synonymous ANAPC1 1 81634 1.22498E-5 40817 0 NA
2-112614253-T-C p.Ile485Val missense ANAPC1 30 81710 3.67152E-4 40855 0 6.25782E-4
2-112614254-T-A p.Lys484Asn missense+splice_region ANAPC1 23 81712 2.81476E-4 40856 0 8.285E-4
2-112614256-T-C p.Lys484Glu missense+splice_region ANAPC1 1 81732 1.22351E-5 40866 0 1.19764E-5
2-112614365-T-C c.1449+8A>G splice_region ANAPC1 1 81260 1.23062E-5 40630 0 NA
2-112614410-A-G p.Val471Ala missense ANAPC1 1 80992 1.23469E-5 40496 0 NA
2-112614412-T-C p.Ser470Ser synonymous ANAPC1 1 80990 1.23472E-5 40495 0 3.1837E-5
2-112614421-G-A p.Ile467Ile synonymous ANAPC1 1 80980 1.23487E-5 40490 0 NA
2-112614429-G-A p.Gln465* stop_gained ANAPC1 23 69770 3.29655E-4 34885 0 0.442592
2-112614430-G-A p.Thr464Thr synonymous ANAPC1 3 80920 3.70737E-5 40460 0 7.43888E-5
2-112614440-T-A p.Asn461Ile missense ANAPC1 2 80882 2.47274E-5 40441 0 NA
2-112614463-G-T p.Arg453Arg splice_region+synonymous ANAPC1 1 80742 1.23851E-5 40371 0 NA
2-112614469-TAATAA-T c.1359-11_1359-7delTTATT splice_region ANAPC1 6 80650 7.43955E-5 40325 0 2.18258E-4
2-112615875-A-C c.1358+8T>G splice_region ANAPC1 2 82998 2.4097E-5 41499 0 0.3229
2-112615877-A-C c.1358+6T>G splice_region ANAPC1 1 83012 1.20465E-5 41506 0 NA
2-112615880-T-A c.1358+3A>T splice_region ANAPC1 2 83046 2.4083E-5 41523 0 3.9795E-6
2-112615895-T-A p.Gln449Leu missense ANAPC1 3 83156 3.60768E-5 41578 0 2.78399E-5
2-112615918-G-A p.Phe441Phe synonymous ANAPC1 1 83232 1.20146E-5 41616 0 NA
2-112615918-G-C p.Phe441Leu missense ANAPC1 1 83232 1.20146E-5 41616 0 NA
2-112615924-T-C p.Gln439Gln synonymous ANAPC1 4 83222 4.80642E-5 41611 0 3.57901E-5
2-112615925-T-C p.Gln439Arg missense ANAPC1 3 83222 3.60482E-5 41611 0 3.18857E-5
2-112615932-A-G p.Cys437Arg missense ANAPC1 2 83204 2.40373E-5 41602 0 NA
2-112615933-T-C p.Leu436Leu synonymous ANAPC1 16 73004 2.19166E-4 36502 0 0.452914
2-112615943-G-A p.Thr433Ile missense ANAPC1 2 83180 2.40442E-5 41590 0 NA
2-112615956-T-C p.Lys429Glu missense ANAPC1 2 83108 2.40651E-5 41554 0 2.49016E-5
2-112615956-T-G p.Lys429Gln missense ANAPC1 1 83108 1.20325E-5 41554 0 NA
2-112615957-T-G p.Ser428Ser synonymous ANAPC1 24 83104 2.88795E-4 41552 0 2.90881E-4
2-112615960-G-A p.Ala427Ala synonymous ANAPC1 1 83084 1.2036E-5 41542 0 8.31712E-6
2-112615965-G-A p.Gln426* stop_gained ANAPC1 1 83024 1.20447E-5 41512 0 NA
2-112615985-T-G c.1263-7A>C splice_region ANAPC1 1 82688 1.20937E-5 41344 0 NA
2-112620003-T-C p.Ile409Val missense ANAPC1 17 79736 2.13204E-4 39868 0 0.00246305
2-112620029-G-A p.Thr400Met missense ANAPC1 6 80120 7.48877E-5 40060 0 6.65779E-4
2-112620030-T-C p.Thr400Ala missense ANAPC1 6 80154 7.48559E-5 40077 0 1.44367E-4
2-112620037-T-C p.Ala397Ala synonymous ANAPC1 1 80226 1.24648E-5 40113 0 NA
2-112620062-C-T p.Ser389Asn missense ANAPC1 1 80268 1.24583E-5 40134 0 8.8227E-6
2-112620093-T-C p.Lys379Glu missense ANAPC1 1 79526 1.25745E-5 39763 0 NA
2-112620096-G-T p.Pro378Thr missense ANAPC1 1 79334 1.26049E-5 39667 0 NA
2-112620102-G-C p.Gln376Glu missense ANAPC1 2 79056 2.52985E-5 39528 0 NA
2-112620132-C-T p.Val366Met missense ANAPC1 1 77064 1.29762E-5 38532 0 NA
2-112620133-C-T p.Gly365Gly synonymous ANAPC1 1 77204 1.29527E-5 38602 0 1.03391E-5
2-112620150-C-T p.Val360Met missense ANAPC1 1 78164 1.27936E-5 39082 0 NA
2-112620157-C-T p.Ala357Ala synonymous ANAPC1 1 78498 1.27392E-5 39249 0 3.18918E-5
2-112620162-G-A p.Pro356Ser missense ANAPC1 1 78658 1.27133E-5 39329 0 NA
2-112621248-A-C c.1052+4T>G splice_region ANAPC1 1 81622 1.22516E-5 40811 0 3.18735E-5
2-112621258-G-A p.Ala349Val missense ANAPC1 5 81754 6.11591E-5 40877 0 6.37796E-5
2-112621274-T-C p.Ile344Val missense ANAPC1 1 81796 1.22255E-5 40898 0 8.24919E-6
2-112621282-G-A p.Ser341Leu missense ANAPC1 1 81832 1.22202E-5 40916 0 1.19468E-5
2-112621286-G-A p.Arg340Cys missense ANAPC1 2 81838 2.44385E-5 40919 0 3.19081E-5
2-112621293-T-C p.Leu337Leu synonymous ANAPC1 4 81848 4.88711E-5 40924 0 3.18598E-5
2-112621295-G-A p.Leu337Leu synonymous ANAPC1 1 81858 1.22163E-5 40929 0 3.19101E-5
2-112621305-T-C p.Ser333Ser synonymous ANAPC1 1 81868 1.22148E-5 40934 0 NA
2-112621309-G-T p.Thr332Asn missense ANAPC1 2 81882 2.44254E-5 40941 0 1.59267E-5
2-112621310-T-C p.Thr332Ala missense ANAPC1 1 81876 1.22136E-5 40938 0 1.03522E-4
2-112621311-T-A p.Ser331Ser synonymous ANAPC1 1 81874 1.22139E-5 40937 0 8.2409E-6
2-112621326-G-A p.His326His synonymous ANAPC1 2 81898 2.44206E-5 40949 0 3.98137E-6
2-112621363-G-A p.Pro314Leu missense ANAPC1 1 81900 1.221E-5 40950 0 3.18776E-5
2-112621380-G-A p.Leu308Leu synonymous ANAPC1 1 81896 1.22106E-5 40948 0 NA
2-112621394-G-A p.His304Tyr missense ANAPC1 1 81872 1.22142E-5 40936 0 NA
2-112621399-G-T p.Thr302Lys missense ANAPC1 20 81850 2.44349E-4 40925 0 3.83142E-4
2-112621433-T-C p.Thr291Ala missense ANAPC1 6 81798 7.33514E-5 40899 0 0.00125
2-112621433-T-A p.Thr291Ser missense ANAPC1 3 81800 3.66748E-5 40900 0 2.01029E-5
2-112621439-C-G p.Gly289Arg missense ANAPC1 19 81784 2.32319E-4 40892 0 5.90319E-4
2-112621461-A-C p.Val281Val synonymous ANAPC1 1 81654 1.22468E-5 40827 0 8.8911E-6
2-112621464-A-T p.Asn280Lys missense ANAPC1 2 81614 2.45056E-5 40807 0 NA
2-112622399-C-T p.Arg272Gln missense ANAPC1 1 79022 1.26547E-5 39511 0 8.7321E-5
2-112622455-G-A p.Pro253Pro synonymous ANAPC1 3 80466 3.72828E-5 40233 0 3.19346E-5
2-112622457-G-A p.Pro253Ser missense ANAPC1 1 80492 1.24236E-5 40246 0 0.00122549
2-112622461-A-G p.Thr251Thr synonymous ANAPC1 1 80518 1.24196E-5 40259 0 3.41507E-5
2-112622465-T-C p.Asn250Ser missense ANAPC1 1 80566 1.24122E-5 40283 0 3.19101E-5
2-112622497-A-G p.Val239Val synonymous ANAPC1 1 80724 1.23879E-5 40362 0 1.65802E-5
2-112625575-T-C c.*159A>G splice_region ANAPC1 45228 75784 0.596801 37892 13672 0.643809
2-112625593-C-A c.685+7G>T splice_region ANAPC1 1 80306 1.24524E-5 40153 0 NA
2-112625604-A-G p.Ser227Ser synonymous ANAPC1 222 80900 0.00274413 40450 2 0.0064728
2-112625625-T-C p.Ile220Met missense ANAPC1 2 81318 2.45948E-5 40659 0 2.09163E-5
2-112625633-C-T p.Asp218Asn missense ANAPC1 1 81302 1.22998E-5 40651 0 NA
2-112625645-G-T p.Leu214Met missense ANAPC1 3 81202 3.69449E-5 40601 0 1.65109E-5
2-112625657-T-G p.Met210Leu missense ANAPC1 1 80728 1.23873E-5 40364 0 8.25696E-6
2-112625669-G-C p.Pro206Ala missense ANAPC1 1 80310 1.24517E-5 40155 0 NA
2-112625681-T-C c.612-8A>G splice_region ANAPC1 1 79566 1.25682E-5 39783 0 NA
2-112630226-C-A p.Val198Leu missense ANAPC1 1 81266 1.23053E-5 40633 0 NA
2-112630239-A-G p.Ala193Ala synonymous ANAPC1 1 81372 1.22892E-5 40686 0 8.28528E-6
2-112630241-C-T p.Ala193Thr missense ANAPC1 3 81346 3.68795E-5 40673 0 8.28144E-6
2-112630242-G-A p.Ser192Ser synonymous ANAPC1 2 81378 2.45767E-5 40689 0 1.6559E-5
2-112630246-C-T p.Arg191Gln missense ANAPC1 2 81390 2.4573E-5 40695 0 3.18512E-5
2-112630260-T-G p.Gly186Gly synonymous ANAPC1 1 81404 1.22844E-5 40702 0 NA
2-112630264-T-C p.Tyr185Cys missense ANAPC1 1 81352 1.22923E-5 40676 0 NA
2-112630266-T-C p.Lys184Lys synonymous ANAPC1 1 81326 1.22962E-5 40663 0 6.36943E-5
2-112630270-G-C p.Thr183Ser missense ANAPC1 1 81310 1.22986E-5 40655 0 8.30482E-6
2-112630273-G-A p.Pro182Leu missense ANAPC1 13 81284 1.59933E-4 40642 0 3.50408E-4
2-112630274-G-A p.Pro182Ser missense ANAPC1 1 81280 1.23031E-5 40640 0 3.9854E-6
2-112630282-T-C p.Asn179Ser missense ANAPC1 1 81160 1.23213E-5 40580 0 3.99399E-6
2-112630286-C-A p.Ala178Ser missense ANAPC1 1 81088 1.23323E-5 40544 0 NA
2-112630938-T-C p.Ile159Val missense ANAPC1 2 78948 2.53331E-5 39474 0 2.2018E-4
2-112630948-T-C p.Gln155Gln synonymous ANAPC1 1 79226 1.26221E-5 39613 0 NA
2-112630965-A-G p.Cys150Arg missense ANAPC1 1 79170 1.2631E-5 39585 0 NA
2-112630978-A-T p.Asn145Lys missense ANAPC1 1 79252 1.2618E-5 39626 0 NA
2-112630993-G-C c.428-8C>G splice_region ANAPC1 2 79476 2.51648E-5 39738 0 6.37186E-5
2-112631190-T-C p.Ser143Gly missense+splice_region ANAPC1 1 78012 1.28185E-5 39006 0 NA
2-112631195-G-C p.Ala141Gly missense ANAPC1 1 78450 1.2747E-5 39225 0 1.39291E-5
2-112631231-C-T p.Cys129Tyr missense ANAPC1 1 79856 1.25225E-5 39928 0 NA
2-112636421-T-C p.Tyr114Cys missense ANAPC1 1 80028 1.24956E-5 40014 0 2.01744E-4
2-112636431-A-G p.Leu111Leu synonymous ANAPC1 1 79950 1.25078E-5 39975 0 NA
2-112636435-C-T p.Gln109Gln synonymous ANAPC1 48 79632 6.02773E-4 39816 1 0.00519638
2-112636453-GCTCCATA-G p.Ile101fs frameshift ANAPC1 1 79922 1.25122E-5 39961 0 NA
2-112636466-A-C p.Met99Arg missense ANAPC1 1 80132 1.24794E-5 40066 0 NA
2-112636526-C-T p.Gly79Glu missense ANAPC1 3 80838 3.71113E-5 40419 0 0.00268097
2-112636556-A-G c.214-8T>C splice_region ANAPC1 1 80836 1.23707E-5 40418 0 NA
2-112638183-A-G c.213+7T>C splice_region ANAPC1 2 79098 2.52851E-5 39549 0 7.56315E-5
2-112638204-G-A p.His67Tyr missense ANAPC1 1 80808 1.2375E-5 40404 0 NA
2-112638205-G-A p.Ile66Ile synonymous ANAPC1 7 80872 8.65565E-5 40436 0 2.56179E-4
2-112638206-A-G p.Ile66Thr missense ANAPC1 1 80942 1.23545E-5 40471 0 NA
2-112638213-C-T p.Val64Ile missense ANAPC1 5 81222 6.15597E-5 40611 0 6.37592E-5
2-112638236-CCAG-C p.Ala55del disruptive_inframe_deletion ANAPC1 2 81718 2.44744E-5 40859 0 4.24744E-5
2-112638249-C-T p.Asp52Asn missense ANAPC1 1 81798 1.22252E-5 40899 0 3.18471E-5
2-112638258-A-G p.Trp49Arg missense ANAPC1 4 81828 4.8883E-5 40914 0 6.62482E-5
2-112638265-A-T p.Ser46Ser synonymous ANAPC1 4 81822 4.88866E-5 40911 0 1.65388E-4
2-112638285-G-A p.Arg40Cys missense ANAPC1 1 81850 1.22175E-5 40925 0 NA
2-112638289-T-C p.Gln38Gln synonymous ANAPC1 1 81856 1.22166E-5 40928 0 3.18674E-5
2-112638300-A-C p.Leu35Val missense ANAPC1 3 81872 3.66426E-5 40936 0 3.9813E-6
2-112638305-T-C p.Asn33Ser missense ANAPC1 4 81878 4.88532E-5 40939 0 3.18532E-5
2-112638313-G-A p.His30His synonymous ANAPC1 1 81886 1.22121E-5 40943 0 3.9813E-6
2-112638317-T-C p.Lys29Arg missense ANAPC1 2 81890 2.4423E-5 40945 0 3.18512E-5
2-112638323-T-C p.His27Arg missense ANAPC1 2 81890 2.4423E-5 40945 0 3.18431E-5
2-112638341-A-T p.Val21Asp missense ANAPC1 2 81894 2.44218E-5 40947 0 NA
2-112638343-A-T p.Phe20Leu missense ANAPC1 1 81892 1.22112E-5 40946 0 NA
2-112638346-T-C p.Glu19Glu synonymous ANAPC1 1 81896 1.22106E-5 40948 0 NA
2-112638348-C-G p.Glu19Gln missense ANAPC1 1 81896 1.22106E-5 40948 0 NA
2-112638350-T-A p.Gln18Leu missense ANAPC1 2 81894 2.44218E-5 40947 0 NA
2-112638359-C-T p.Arg15Lys missense ANAPC1 1 81898 1.22103E-5 40949 0 NA
2-112638360-T-G p.Arg15Arg synonymous ANAPC1 1 81902 1.22097E-5 40951 0 6.37146E-5
2-112638361-T-G p.Ala14Ala synonymous ANAPC1 21 81844 2.56586E-4 40922 0 0.003125
2-112638378-T-C p.Thr9Ala missense ANAPC1 1 81886 1.22121E-5 40943 0 3.98184E-6
2-112638388-A-G p.Tyr5Tyr synonymous ANAPC1 1 81878 1.22133E-5 40939 0 NA
2-112638389-T-C p.Tyr5Cys missense ANAPC1 8 81876 9.77087E-5 40938 0 1.27437E-4
2-112638391-G-A p.Phe4Phe synonymous ANAPC1 1 81874 1.22139E-5 40937 0 1.65158E-5
2-112638393-A-C p.Phe4Val missense ANAPC1 2 81868 2.44296E-5 40934 0 6.36943E-5
2-112638397-C-T p.Ser2Ser synonymous ANAPC1 1 81858 1.22163E-5 40929 0 8.28597E-6
2-112638399-A-T p.Ser2Thr missense ANAPC1 2 81840 2.44379E-5 40920 0 5.81347E-5
2-112638401-A-G p.Met1? start_lost ANAPC1 1 81844 1.22184E-5 40922 0 NA
2-112638421-T-G c.-19A>C 5_prime_UTR_premature_start_codon_gain ANAPC1 1 81680 1.22429E-5 40840 0 NA
2-112638432-T-TAACTCGGGACGCGTCAGGCGCGGC c.-24-7_-24-6insGCCGCGCCTGACGCGTCCCGAGTT splice_region ANAPC1 1 81370 1.22895E-5 40685 0 NA