Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-6071015-T-C p.Asn3Asn synonymous ANKRD61 1 77764 1.28594E-5 38882 0 NA
7-6071017-T-C p.Ile4Thr missense ANKRD61 3 77762 3.85793E-5 38881 0 NA
7-6071024-G-A p.Arg6Arg synonymous ANKRD61 2 77810 2.57036E-5 38905 0 NA
7-6071028-G-A p.Gly8Arg missense ANKRD61 292 77802 0.00375312 38901 0 0.006875
7-6071034-A-C p.Arg10Arg synonymous ANKRD61 6 77814 7.71069E-5 38907 0 1.86237E-4
7-6071045-G-A p.Val13Val synonymous ANKRD61 1 77850 1.28452E-5 38925 0 NA
7-6071047-T-C p.Val14Ala missense ANKRD61 2 77856 2.56885E-5 38928 0 NA
7-6071053-G-A p.Ser16Asn missense ANKRD61 1 77870 1.28419E-5 38935 0 NA
7-6071053-G-C p.Ser16Thr missense ANKRD61 5 77870 6.42096E-5 38935 0 NA
7-6071060-G-A p.Lys18Lys synonymous ANKRD61 32732 77600 0.421804 38800 7116 0.48625
7-6071069-A-T p.Glu21Asp missense ANKRD61 1 77878 1.28406E-5 38939 0 NA
7-6071080-C-A p.Ser25Tyr missense ANKRD61 1 77882 1.28399E-5 38941 0 1.32929E-5
7-6071093-C-A p.His29Gln missense ANKRD61 1 77862 1.28432E-5 38931 0 1.33037E-5
7-6071095-C-T p.Ser30Leu missense ANKRD61 24 77858 3.08253E-4 38929 0 6.36862E-4
7-6071095-C-G p.Ser30Trp missense ANKRD61 3 77860 3.85307E-5 38930 0 2.66106E-5
7-6071096-G-A p.Ser30Ser synonymous ANKRD61 4 77866 5.13703E-5 38933 0 3.18512E-5
7-6071097-A-C p.Lys31Gln missense ANKRD61 1 77874 1.28413E-5 38937 0 NA
7-6071109-G-A p.Ala35Thr missense ANKRD61 1 77836 1.28475E-5 38918 0 NA
7-6071115-A-G p.Met37Val missense ANKRD61 7830 77766 0.100687 38883 507 0.123813
7-6071116-TGA-T p.Glu39fs frameshift ANKRD61 10 77850 1.28452E-4 38925 0 1.46549E-4
7-6071134-C-T p.Thr43Met missense ANKRD61 2 77808 2.57043E-5 38904 0 2.0031E-5
7-6071135-G-A p.Thr43Thr synonymous ANKRD61 1 77808 1.28521E-5 38904 0 3.18471E-5
7-6071135-G-C p.Thr43Thr synonymous ANKRD61 1 77808 1.28521E-5 38904 0 1.33563E-5
7-6071138-C-T p.Ile44Ile synonymous ANKRD61 3 77800 3.85604E-5 38900 0 5.97943E-5
7-6071142-G-A p.Val46Ile missense ANKRD61 3 77790 3.85654E-5 38895 0 NA
7-6071146-T-G p.Leu47Arg missense ANKRD61 5 77784 6.42806E-5 38892 0 9.36367E-5
7-6071149-T-C p.Leu48Pro missense ANKRD61 4 77784 5.14245E-5 38892 0 2.00626E-5
7-6071152-G-T p.Arg49Ile missense ANKRD61 1 77772 1.28581E-5 38886 0 3.18573E-5
7-6071177-C-T p.Ile57Ile synonymous ANKRD61 12 77746 1.54349E-4 38873 0 0.00582877
7-6071195-C-T p.Ser63Ser synonymous ANKRD61 2 77732 2.57294E-5 38866 0 6.37064E-5
7-6071196-G-A p.Ala64Thr missense ANKRD61 21 77734 2.70152E-4 38867 0 7.83888E-4
7-6071201-C-T p.Ser65Ser synonymous ANKRD61 1 77726 1.28657E-5 38863 0 NA
7-6071204-C-T p.Asn66Asn synonymous ANKRD61 7 77720 9.00669E-5 38860 0 2.0072E-5
7-6071204-C-A p.Asn66Lys missense ANKRD61 1 77720 1.28667E-5 38860 0 NA
7-6071216-G-A p.Leu70Leu synonymous ANKRD61 4 77698 5.14814E-5 38849 0 6.69344E-6
7-6071230-C-T c.216+8C>T splice_region ANKRD61 1 77580 1.28899E-5 38790 0 NA
7-6072465-C-G c.217-5C>G splice_region ANKRD61 1 77860 1.28436E-5 38930 0 NA
7-6072469-G-A c.217-1G>A splice_acceptor ANKRD61 1 77874 1.28413E-5 38937 0 NA
7-6072471-C-T p.Pro73Leu missense+splice_region ANKRD61 5 77884 6.4198E-5 38942 0 2.64887E-5
7-6072472-G-A p.Pro73Pro splice_region+synonymous ANKRD61 2 77874 2.56825E-5 38937 0 3.18471E-5
7-6072479-T-C p.Ser76Pro missense ANKRD61 1458 77890 0.0187187 38945 78 0.0374952
7-6072486-T-A p.Ile78Asn missense ANKRD61 1 77914 1.28347E-5 38957 0 6.61463E-6
7-6072496-T-C p.His81His synonymous ANKRD61 1 77922 1.28333E-5 38961 0 3.18431E-5
7-6072498-T-C p.Leu82Pro missense ANKRD61 2 77930 2.56641E-5 38965 0 NA
7-6072499-G-A p.Leu82Leu synonymous ANKRD61 1 77932 1.28317E-5 38966 0 6.61323E-6
7-6072517-G-A p.Lys88Lys synonymous ANKRD61 1 77942 1.28301E-5 38971 0 NA
7-6072525-G-A p.Ser91Asn missense ANKRD61 2 77946 2.56588E-5 38973 0 1.984E-5
7-6072532-C-A p.Leu93Leu synonymous ANKRD61 1 77954 1.28281E-5 38977 0 3.1841E-5
7-6072539-T-TTACG p.His98fs frameshift ANKRD61 1 77942 1.28301E-5 38971 0 NA
7-6072540-T-C p.Leu96Ser missense ANKRD61 6 77940 7.69823E-5 38970 0 1.32368E-5
7-6072543-G-C p.Arg97Pro missense ANKRD61 1 77928 1.28324E-5 38964 0 NA
7-6072547-C-T p.His98His synonymous ANKRD61 9 77916 1.15509E-4 38958 0 6.25E-4
7-6072548-G-A p.Gly99Ser missense ANKRD61 1 77912 1.2835E-5 38956 0 1.14403E-4
7-6072554-G-A p.Asp101Asn missense ANKRD61 1 77904 1.28363E-5 38952 0 NA
7-6072555-A-G p.Asp101Gly missense ANKRD61 187 77904 0.00240039 38952 4 0.00500287
7-6072557-CCAGAAGT-C p.Leu96fs frameshift ANKRD61 2 77902 2.56733E-5 38951 0 1.72354E-4
7-6072567-G-T p.Arg105Met missense+splice_region ANKRD61 1 77862 1.28432E-5 38931 0 NA
7-6075080-C-T p.Thr107Met missense ANKRD61 6 77910 7.70119E-5 38955 0 6.25E-4
7-6075080-C-A p.Thr107Lys missense ANKRD61 1 77910 1.28353E-5 38955 0 NA
7-6075085-G-T p.Gly109Cys missense ANKRD61 2 77918 2.5668E-5 38959 0 8.81723E-4
7-6075098-T-A p.Leu113His missense ANKRD61 2 77932 2.56634E-5 38966 0 3.18532E-5
7-6075099-CAACTT-C p.Leu115fs frameshift ANKRD61 1 77930 1.2832E-5 38965 0 NA
7-6075133-A-C p.Thr125Pro missense ANKRD61 1 77940 1.28304E-5 38970 0 6.61314E-6
7-6075137-C-T p.Thr126Met missense ANKRD61 2 77940 2.56608E-5 38970 0 NA
7-6075138-G-A p.Thr126Thr synonymous ANKRD61 2 77942 2.56601E-5 38971 0 6.37105E-5
7-6075159-A-C p.Arg133Ser missense ANKRD61 6 77942 7.69803E-5 38971 0 NA
7-6075161-C-T p.Thr134Met missense ANKRD61 36 77942 4.61882E-4 38971 0 3.23368E-4
7-6075162-G-A p.Thr134Thr synonymous ANKRD61 1 77940 1.28304E-5 38970 0 1.31996E-5
7-6075174-G-C p.Leu138Leu synonymous ANKRD61 2 77936 2.56621E-5 38968 0 3.18532E-5
7-6075174-G-A p.Leu138Leu synonymous ANKRD61 1 77936 1.2831E-5 38968 0 NA
7-6075199-A-G p.Thr147Ala missense ANKRD61 12 77932 1.5398E-4 38966 0 6.60249E-6
7-6075200-CAT-C p.Cys148fs frameshift ANKRD61 2 77930 2.56641E-5 38965 0 3.18471E-5
7-6075202-T-G p.Cys148Gly missense ANKRD61 1 77924 1.2833E-5 38962 0 NA
7-6075205-C-T p.Leu149Phe missense ANKRD61 1 77926 1.28327E-5 38963 0 6.6045E-6
7-6075208-C-T p.Arg150Cys missense ANKRD61 1 77924 1.2833E-5 38962 0 4.62412E-5
7-6075209-G-A p.Arg150His missense ANKRD61 12 77926 1.53992E-4 38963 0 1.12337E-4
7-6075222-G-A p.Ala154Ala synonymous ANKRD61 2 77922 2.56667E-5 38961 0 1.32286E-5
7-6075225-C-A p.His155Gln missense ANKRD61 1 77920 1.28337E-5 38960 0 6.61533E-6
7-6075226-G-A p.Gly156Arg missense ANKRD61 2 77922 2.56667E-5 38961 0 1.32347E-5
7-6075234-A-G p.Gln158Gln synonymous ANKRD61 3 77916 3.8503E-5 38958 0 NA
7-6075235-G-A p.Val159Met missense ANKRD61 1 77916 1.28343E-5 38958 0 NA
7-6075244-C-G p.Gln162Glu missense ANKRD61 66 77926 8.46957E-4 38963 0 0.00117864
7-6075247-G-C p.Gly163Arg missense ANKRD61 1 77928 1.28324E-5 38964 0 NA
7-6075247-G-A p.Gly163Arg missense ANKRD61 1 77928 1.28324E-5 38964 0 6.63324E-6
7-6075264-A-C p.Lys168Asn missense ANKRD61 3 77926 3.84981E-5 38963 0 NA
7-6075265-C-T p.Arg169Cys missense ANKRD61 1 77928 1.28324E-5 38964 0 3.18593E-5
7-6075269-C-CT p.Pro171fs frameshift ANKRD61 2 77922 2.56667E-5 38961 0 NA
7-6075302-A-G p.Tyr181Cys missense ANKRD61 1 77904 1.28363E-5 38952 0 NA
7-6075307-G-A p.Val183Ile missense ANKRD61 1 77906 1.2836E-5 38953 0 6.66294E-6
7-6075321-G-C p.Leu187Phe missense ANKRD61 2 77868 2.56845E-5 38934 1 NA
7-6075339-T-C p.Asp193Asp synonymous ANKRD61 1 77834 1.28479E-5 38917 0 1.99386E-5
7-6075341-T-TCC p.Asn195fs frameshift ANKRD61 1 77832 1.28482E-5 38916 0 6.37064E-5
7-6075342-C-G p.Val194Val synonymous ANKRD61 1 77832 1.28482E-5 38916 0 NA
7-6075346-G-A p.Ala196Thr missense ANKRD61 3 77800 3.85604E-5 38900 0 4.77737E-4
7-6075348-T-A p.Ala196Ala synonymous ANKRD61 1 77788 1.28555E-5 38894 0 NA
7-6075364-A-G p.Met202Val missense ANKRD61 1 77632 1.28813E-5 38816 0 NA
7-6075370-C-G p.Pro204Ala missense ANKRD61 2 77534 2.57951E-5 38767 0 NA
7-6075370-C-T p.Pro204Ser missense ANKRD61 1 77534 1.28976E-5 38767 0 6.62998E-6
7-6075371-C-A p.Pro204His missense ANKRD61 1 77530 1.28982E-5 38765 0 NA
7-6075384-C-T p.Ala208Ala synonymous ANKRD61 1 77348 1.29286E-5 38674 0 6.6328E-6
7-6075390-C-G p.Asn210Lys missense ANKRD61 3 77298 3.88108E-5 38649 0 5.76635E-5
7-6075392-T-C p.Met211Thr missense ANKRD61 15 77252 1.9417E-4 38626 0 NA
7-6075395-T-C p.Leu212Pro missense ANKRD61 1 77208 1.2952E-5 38604 0 3.18634E-5
7-6075400-AAGG-A p.Glu215del conservative_inframe_deletion ANKRD61 2 77126 2.59316E-5 38563 0 6.63579E-6
7-6075413-A-C p.Glu218Ala missense ANKRD61 1 76942 1.29968E-5 38471 0 NA
7-6075414-A-G p.Glu218Glu synonymous ANKRD61 3 76932 3.89955E-5 38466 0 6.37024E-5
7-6075416-C-T p.Thr219Met missense ANKRD61 2 76886 2.60125E-5 38443 0 6.37105E-5
7-6075417-G-A p.Thr219Thr synonymous ANKRD61 1 76840 1.30141E-5 38420 0 NA
7-6075422-T-C p.Ile221Thr missense ANKRD61 12 76820 1.56209E-4 38410 0 1.17495E-4
7-6075439-G-A p.Val227Ile missense ANKRD61 2 76688 2.60797E-5 38344 0 1.33392E-5
7-6075444-C-T p.Asn228Asn synonymous ANKRD61 187 76676 0.00243883 38338 1 0.00245239
7-6075461-C-T p.Thr234Met missense ANKRD61 5 76690 6.51975E-5 38345 0 5.41574E-4
7-6075462-G-A p.Thr234Thr synonymous ANKRD61 22 76712 2.86787E-4 38356 0 2.54793E-4
7-6075470-C-T p.Thr237Met missense ANKRD61 8 76718 1.04278E-4 38359 0 6.25E-4
7-6075471-G-A p.Thr237Thr synonymous ANKRD61 1 76688 1.30398E-5 38344 0 6.38814E-5
7-6075484-G-T p.Ala242Ser missense ANKRD61 1 76824 1.30168E-5 38412 0 NA
7-6075489-G-A p.Val243Val synonymous ANKRD61 1 76880 1.30073E-5 38440 0 NA
7-6075491-G-T p.Cys244Phe missense ANKRD61 3 76872 3.90259E-5 38436 0 3.18512E-5
7-6075493-A-T p.Thr245Ser missense ANKRD61 1 76900 1.30039E-5 38450 0 2.02837E-5
7-6075495-T-C p.Thr245Thr synonymous ANKRD61 1 76920 1.30005E-5 38460 0 3.38277E-5
7-6075511-G-T p.Gly251Cys missense ANKRD61 160 77088 0.00207555 38544 0 0.00535373
7-6075512-G-A p.Gly251Asp missense ANKRD61 3 77052 3.89347E-5 38526 0 2.04254E-5
7-6075514-C-T p.Arg252* stop_gained ANKRD61 1 77092 1.29715E-5 38546 0 6.25E-4
7-6075523-G-A p.Gly255Arg missense ANKRD61 233 77186 0.00301868 38593 12 0.0111554
7-6075528-G-A p.Ala256Ala synonymous ANKRD61 17 77250 2.20065E-4 38625 0 1.4339E-4
7-6075531-G-A p.Gly257Gly synonymous ANKRD61 2 77278 2.58806E-5 38639 0 9.56206E-5
7-6075534-C-T p.Val258Val synonymous ANKRD61 75 77312 9.70095E-4 38656 0 6.55335E-4
7-6075537-C-A p.Ser259Arg missense ANKRD61 1 77350 1.29282E-5 38675 0 NA
7-6075544-C-T p.Arg262Cys missense ANKRD61 2 77434 2.58284E-5 38717 0 1.36284E-5
7-6075545-G-A p.Arg262His missense ANKRD61 4 77436 5.16556E-5 38718 0 6.37105E-5
7-6075548-T-C p.Leu263Pro missense ANKRD61 1 77472 1.29079E-5 38736 0 NA
7-6075550-C-T p.Leu264Leu synonymous ANKRD61 1 77464 1.29092E-5 38732 0 NA
7-6075557-C-G p.Thr266Ser missense ANKRD61 1 77522 1.28996E-5 38761 0 NA
7-6075565-G-A p.Ala269Thr missense ANKRD61 3 77562 3.86787E-5 38781 0 6.72857E-5
7-6075570-A-G p.Lys270Lys synonymous ANKRD61 1 77590 1.28883E-5 38795 0 6.7563E-6
7-6075575-ACG-A p.Ala273fs frameshift ANKRD61 1 77606 1.28856E-5 38803 0 NA
7-6075576-C-T p.Asn272Asn synonymous ANKRD61 4 77604 5.15437E-5 38802 0 3.18674E-5
7-6075577-G-A p.Ala273Thr missense ANKRD61 1 77612 1.28846E-5 38806 0 6.61638E-5
7-6075579-C-G p.Ala273Ala synonymous ANKRD61 1 77608 1.28853E-5 38804 0 6.71574E-6
7-6075588-C-G p.Tyr276* stop_gained ANKRD61 2 77648 2.57573E-5 38824 0 1.33828E-5
7-6075589-A-G p.Lys277Glu missense ANKRD61 1 77656 1.28773E-5 38828 0 6.68235E-6
7-6075591-G-C p.Lys277Asn missense ANKRD61 1 77658 1.2877E-5 38829 0 NA
7-6075592-G-A p.Gly278Ser missense ANKRD61 1 77664 1.2876E-5 38832 0 NA
7-6075595-C-T p.Gln279* stop_gained ANKRD61 2 77664 2.5752E-5 38832 0 6.36983E-5
7-6075612-G-A p.Glu284Glu synonymous ANKRD61 1 77680 1.28733E-5 38840 0 1.27397E-4
7-6075614-C-A p.Ala285Glu missense ANKRD61 1 77668 1.28753E-5 38834 0 6.36902E-5
7-6075616-T-C p.Cys286Arg missense ANKRD61 1 77668 1.28753E-5 38834 0 NA
7-6075634-G-A p.Ala292Thr missense ANKRD61 2 77682 2.5746E-5 38841 0 NA
7-6075642-C-G p.Ile294Met missense ANKRD61 1 77684 1.28727E-5 38842 0 6.61796E-6
7-6075655-G-C p.Glu299Gln missense ANKRD61 1 77694 1.2871E-5 38847 0 NA
7-6075671-T-A p.Val304Asp missense ANKRD61 1 77740 1.28634E-5 38870 0 NA
7-6075690-C-T p.Asn310Asn synonymous ANKRD61 2 77790 2.57102E-5 38895 0 1.85264E-4
7-6075691-G-A p.Gly311Arg missense ANKRD61 3 77806 3.85574E-5 38903 0 3.427E-4
7-6075698-C-CT p.Pro314fs frameshift ANKRD61 2 77822 2.56997E-5 38911 0 9.55657E-5
7-6075718-C-G p.Gln320Glu missense ANKRD61 4 77884 5.13584E-5 38942 0 1.59215E-4
7-6075719-A-G p.Gln320Arg missense ANKRD61 1 77888 1.28389E-5 38944 0 6.62928E-6
7-6075721-C-T p.Arg321Cys missense ANKRD61 133 77874 0.00170789 38937 3 0.00518131
7-6075722-G-A p.Arg321His missense ANKRD61 2 77878 2.56812E-5 38939 0 6.63438E-5
7-6075722-G-C p.Arg321Pro missense ANKRD61 1 77878 1.28406E-5 38939 0 NA
7-6075723-C-T p.Arg321Arg synonymous ANKRD61 1 77884 1.28396E-5 38942 0 3.18532E-5
7-6075727-T-C p.Cys323Arg missense ANKRD61 1 77888 1.28389E-5 38944 0 5.79374E-5
7-6075737-G-A p.Arg326Lys missense ANKRD61 6 77886 7.70357E-5 38943 0 3.18492E-5
7-6075743-C-A p.Thr328Lys missense ANKRD61 54 77884 6.93339E-4 38942 0 0.00140181
7-6075744-G-A p.Thr328Thr synonymous ANKRD61 9 77884 1.15556E-4 38942 0 1.998E-5
7-6075760-C-A p.Leu334Ile missense ANKRD61 568 77880 0.00729327 38940 3 0.01
7-6075777-T-C p.Tyr339Tyr synonymous ANKRD61 1 77894 1.2838E-5 38947 0 6.68977E-6
7-6075779-C-G p.Pro340Arg missense ANKRD61 2 77892 2.56766E-5 38946 0 NA
7-6075823-A-T p.Met355Leu missense ANKRD61 32468 77298 0.420037 38649 6986 0.48625
7-6075837-C-T p.Phe359Phe synonymous ANKRD61 1 77838 1.28472E-5 38919 0 NA
7-6075838-C-T p.Arg360Cys missense ANKRD61 2 77828 2.56977E-5 38914 0 3.18634E-5
7-6075839-G-A p.Arg360His missense ANKRD61 1 77828 1.28488E-5 38914 0 6.71628E-6
7-6075850-G-C p.Asp364His missense ANKRD61 1 77824 1.28495E-5 38912 0 NA
7-6075853-AC-A p.Leu366fs frameshift ANKRD61 4 77824 5.1398E-5 38912 0 7.94524E-4
7-6075869-C-T p.Ser370Leu missense ANKRD61 21 77808 2.69895E-4 38904 0 5.10921E-4
7-6075870-G-A p.Ser370Ser synonymous ANKRD61 9 77804 1.15675E-4 38902 0 6.72151E-5
7-6075871-C-CA p.Pro373fs frameshift ANKRD61 1 77804 1.28528E-5 38902 0 6.11696E-5
7-6075876-A-G p.Lys372Lys synonymous ANKRD61 1 77806 1.28525E-5 38903 0 6.69999E-6
7-6075881-T-C p.Leu374Ser missense ANKRD61 1 77794 1.28545E-5 38897 0 NA
7-6075885-C-A p.Ser375Ser synonymous ANKRD61 15 77782 1.92847E-4 38891 0 1.59327E-4
7-6075893-G-A p.Gly378Asp missense ANKRD61 1 77760 1.28601E-5 38880 0 6.71069E-6
7-6075894-T-C p.Gly378Gly synonymous ANKRD61 1 77752 1.28614E-5 38876 0 NA
7-6075905-GA-G p.Asn383fs frameshift ANKRD61 2 77750 2.57235E-5 38875 0 NA
7-6075911-T-G p.Ile384Ser missense ANKRD61 1 77724 1.2866E-5 38862 0 NA
7-6075914-G-A p.Arg385Lys missense ANKRD61 1 77714 1.28677E-5 38857 0 NA
7-6075915-G-A p.Arg385Arg synonymous ANKRD61 1 77714 1.28677E-5 38857 0 6.73646E-6
7-6075941-A-T p.Gln394Leu missense ANKRD61 2 77636 2.57612E-5 38818 0 NA
7-6075948-G-A p.Leu396Leu synonymous ANKRD61 3 77600 3.86598E-5 38800 0 6.37308E-5
7-6075958-C-G p.Leu400Val missense ANKRD61 1 77558 1.28936E-5 38779 0 NA
7-6075969-A-C p.Thr403Thr synonymous ANKRD61 1 77534 1.28976E-5 38767 0 NA
7-6075980-C-G p.Ser407Cys missense ANKRD61 1 77490 1.29049E-5 38745 0 NA
7-6075996-T-C p.Tyr412Tyr synonymous ANKRD61 3 77424 3.87477E-5 38712 0 5.64398E-5
7-6075996-T-A p.Tyr412* stop_gained ANKRD61 1 77424 1.29159E-5 38712 0 NA
7-6075999-C-T p.Asp413Asp synonymous ANKRD61 1 77398 1.29202E-5 38699 0 2.85453E-5
7-6076008-T-C p.Tyr416Tyr synonymous ANKRD61 8 77346 1.03431E-4 38673 0 9.09753E-5
7-6076014-T-C p.Ser418Ser synonymous ANKRD61 4 77212 5.18054E-5 38606 0 2.45146E-5