Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
12-110811960-C-T p.Gly597Ser missense ANAPC7 1 83066 1.20386E-5 41533 0 1.67923E-5
12-110811973-C-T p.Gln592Gln synonymous ANAPC7 1 83180 1.20221E-5 41590 0 1.66094E-5
12-110811976-G-C p.Asp591Glu missense ANAPC7 1 83190 1.20207E-5 41595 0 NA
12-110811985-C-T p.Gln588Gln synonymous ANAPC7 1 83220 1.20163E-5 41610 0 NA
12-110811991-C-T p.Ala586Ala synonymous ANAPC7 1 83230 1.20149E-5 41615 0 1.99287E-5
12-110812041-T-A p.Met570Leu missense ANAPC7 1 83298 1.20051E-5 41649 0 NA
12-110812044-C-T p.Asp569Asn missense ANAPC7 1 83302 1.20045E-5 41651 0 NA
12-110812073-G-A p.Thr559Met missense ANAPC7 1 83314 1.20028E-5 41657 0 1.59113E-5
12-110812084-C-T p.Glu555Glu synonymous ANAPC7 1 83308 1.20036E-5 41654 0 3.18492E-5
12-110812095-T-A p.Met552Leu missense ANAPC7 1 83302 1.20045E-5 41651 0 NA
12-110812127-T-C p.Asn541Ser missense ANAPC7 1 83250 1.2012E-5 41625 0 2.49153E-5
12-110813863-G-A c.1610+8C>T splice_region ANAPC7 1 83204 1.20187E-5 41602 0 NA
12-110813864-T-A c.1610+7A>T splice_region ANAPC7 3 83216 3.60508E-5 41608 0 4.00705E-5
12-110813904-TG-T p.Gln526fs frameshift ANAPC7 1 83378 1.19936E-5 41689 0 NA
12-110813909-C-T p.Glu524Glu synonymous ANAPC7 1 83384 1.19927E-5 41692 0 8.23845E-6
12-110813911-C-T p.Glu524Lys missense ANAPC7 3 83384 3.59781E-5 41692 0 NA
12-110813926-G-A p.Leu519Phe missense ANAPC7 1 83386 1.19924E-5 41693 0 NA
12-110813936-T-C p.Leu515Leu synonymous ANAPC7 1 83402 1.19901E-5 41701 0 NA
12-110813942-C-T p.Arg513Arg synonymous ANAPC7 3 83402 3.59704E-5 41701 0 2.23086E-4
12-110813972-C-T p.Leu503Leu synonymous ANAPC7 1 83396 1.1991E-5 41698 0 NA
12-110813977-C-T p.Ala502Thr missense ANAPC7 2 83394 2.39825E-5 41697 0 1.193E-5
12-110813978-G-A p.Asn501Asn synonymous ANAPC7 1 83398 1.19907E-5 41699 0 1.64734E-5
12-110813989-A-G p.Leu498Leu synonymous ANAPC7 2 83388 2.39843E-5 41694 0 NA
12-110813992-C-T p.Ala497Thr missense ANAPC7 12 83390 1.43902E-4 41695 0 3.50653E-4
12-110814018-C-G p.Arg488Thr missense ANAPC7 4 83364 4.79823E-5 41682 0 1.65038E-5
12-110814020-G-A p.Ser487Ser splice_region+synonymous ANAPC7 3 83358 3.59893E-5 41679 0 3.98143E-6
12-110814024-G-C c.1460-3C>G splice_region ANAPC7 1 83336 1.19996E-5 41668 0 NA
12-110815191-C-A c.1459+7G>T splice_region ANAPC7 1 83302 1.20045E-5 41651 0 NA
12-110815206-T-C p.Glu484Gly missense ANAPC7 1 83330 1.20005E-5 41665 0 NA
12-110815210-C-CTT p.Ala483fs frameshift ANAPC7 1 83342 1.19988E-5 41671 0 NA
12-110815247-G-A p.Thr470Thr synonymous ANAPC7 1 83380 1.19933E-5 41690 0 NA
12-110815265-T-C p.Leu464Leu synonymous ANAPC7 19 83384 2.27861E-4 41692 0 5.09619E-4
12-110815286-T-C p.Thr457Thr synonymous ANAPC7 5 83394 5.99564E-5 41697 0 6.3678E-5
12-110815294-G-A p.Pro455Ser missense ANAPC7 1 83404 1.19898E-5 41702 0 NA
12-110815309-C-T p.Val450Ile missense ANAPC7 1 83418 1.19878E-5 41709 0 7.95267E-6
12-110815310-G-A p.Thr449Thr synonymous ANAPC7 190 83418 0.00227769 41709 0 0.00151057
12-110815315-C-A p.Ala448Ser missense ANAPC7 1 83418 1.19878E-5 41709 0 3.97633E-6
12-110815316-T-C p.Leu447Leu synonymous ANAPC7 1 83420 1.19875E-5 41710 0 NA
12-110815337-AT-A p.Asn440fs frameshift ANAPC7 1 83416 1.19881E-5 41708 0 NA
12-110815337-A-G p.Asn440Asn synonymous ANAPC7 1 83416 1.19881E-5 41708 0 NA
12-110815360-C-T p.Val433Ile missense ANAPC7 2 83408 2.39785E-5 41704 0 3.29462E-5
12-110815361-G-A p.Asn432Asn synonymous ANAPC7 4 83410 4.79559E-5 41705 0 5.03525E-4
12-110815395-T-C p.Asn421Ser missense ANAPC7 1 83394 1.19913E-5 41697 0 NA
12-110815401-G-A p.Ala419Val missense ANAPC7 1 83394 1.19913E-5 41697 0 3.97636E-6
12-110815415-G-A p.Ile414Ile synonymous ANAPC7 4 83366 4.79812E-5 41683 0 5.76853E-5
12-110815420-GACCTGAAAAAAGTAAAACACGTGAAGACATTCAATGCCATTACCATTCCAACCCATGCTTCCACTCTGACAGCTCTCCAAATTGCTA-G p.Gly412fs frameshift ANAPC7 1 83342 1.19988E-5 41671 0 NA
12-110815424-T-TTCA c.1235-3_1235-2insTGA splice_region ANAPC7 2 83342 2.39975E-5 41671 0 NA
12-110815425-G-T c.1235-3C>A splice_region ANAPC7 2 83342 2.39975E-5 41671 0 NA
12-110815425-G-GA c.1235-4dupT splice_region ANAPC7 1 83342 1.19988E-5 41671 0 3.97744E-6
12-110815428-A-C c.1235-6T>G splice_region ANAPC7 2 83336 2.39992E-5 41668 0 NA
12-110815503-T-A n.310+7A>T splice_region ANAPC7 1 79722 1.25436E-5 39861 0 NA
12-110815510-C-G n.310G>C splice_region ANAPC7 3 78650 3.81437E-5 39325 0 NA
12-110815510-C-T n.310G>A splice_region ANAPC7 1 78650 1.27146E-5 39325 0 NA
12-110819549-T-C c.1234+8A>G splice_region ANAPC7 1 82836 1.2072E-5 41418 0 1.70051E-5
12-110819551-T-C c.1234+6A>G splice_region ANAPC7 1 82852 1.20697E-5 41426 0 8.47443E-6
12-110819561-A-G p.Tyr410Tyr synonymous ANAPC7 1 83050 1.20409E-5 41525 0 NA
12-110819562-T-C p.Tyr410Cys missense ANAPC7 1 83050 1.20409E-5 41525 0 1.67193E-5
12-110819575-G-A p.Arg406Cys missense ANAPC7 1 83182 1.20218E-5 41591 0 3.19816E-5
12-110819584-C-T p.Ala403Thr missense ANAPC7 3 83214 3.60516E-5 41607 0 4.14099E-5
12-110819585-G-A p.Leu402Leu synonymous ANAPC7 7 83212 8.41225E-5 41606 0 4.96163E-5
12-110819589-C-T p.Arg401Gln missense ANAPC7 1 83242 1.20132E-5 41621 0 NA
12-110819590-G-A p.Arg401Trp missense ANAPC7 1 83248 1.20123E-5 41624 0 2.47848E-5
12-110819630-G-T p.Gly387Gly synonymous ANAPC7 2 83326 2.40021E-5 41663 0 NA
12-110819646-G-A p.Ala382Val missense ANAPC7 1 83294 1.20057E-5 41647 0 NA
12-110819669-T-C p.Gln374Gln synonymous ANAPC7 1 83276 1.20083E-5 41638 0 6.25E-4
12-110819680-T-C p.Asn371Asp missense ANAPC7 1 83252 1.20117E-5 41626 0 8.58959E-6
12-110819680-T-G p.Asn371His missense ANAPC7 3 83252 3.60352E-5 41626 0 NA
12-110819690-C-T p.Gln367Gln synonymous ANAPC7 1 83206 1.20184E-5 41603 0 3.23646E-5
12-110819723-G-A p.Ser356Ser synonymous ANAPC7 1 82664 1.20972E-5 41332 0 4.17498E-6
12-110819729-G-C p.Arg354Arg synonymous ANAPC7 8 82430 9.7052E-5 41215 0 6.8157E-5
12-110819730-C-T p.Arg354His missense ANAPC7 1 82236 1.21601E-5 41118 0 5.03525E-4
12-110819732-T-C p.Lys353Lys synonymous ANAPC7 1 82258 1.21569E-5 41129 0 1.32457E-5
12-110819744-G-A p.Ser349Ser synonymous ANAPC7 5 81686 6.121E-5 40843 0 4.09679E-5
12-110819753-G-GCCAGAAACCACCCACGGTT c.1038-1_1038insAACCGTGGGTGGTTTCTGG splice_acceptor ANAPC7 1 80424 1.24341E-5 40212 0 NA
12-110819756-GGA-G c.1038-5_1038-4delTC splice_region ANAPC7 1 79870 1.25203E-5 39935 0 8.86721E-4
12-110819756-G-GA c.1038-4_1038-3insT splice_region ANAPC7 2 79878 2.50382E-5 39939 0 NA
12-110819757-G-GA c.1038-5_1038-4insT splice_region ANAPC7 5 79406 6.29675E-5 39703 0 0.00175607
12-110819757-G-GAA c.1038-5_1038-4insTT splice_region ANAPC7 1 79426 1.25903E-5 39713 0 1.59642E-4
12-110819758-A-AG c.1038-6_1038-5insC splice_region ANAPC7 40 78996 5.06355E-4 39498 1 0.0239135
12-110819758-A-G c.1038-5T>C splice_region ANAPC7 1 79046 1.26509E-5 39523 0 2.9074E-4
12-110819758-AG-A c.1038-6delC splice_region ANAPC7 1 79022 1.26547E-5 39511 0 0.00226319
12-110819759-GAAA-G c.1038-9_1038-7delTTT splice_region ANAPC7 115 78556 0.00146392 39278 1 0.0296036
12-110819759-G-GA c.1038-7_1038-6insT splice_region ANAPC7 983 77568 0.0126728 38784 76 0.00526844
12-110819759-GA-G c.1038-7delT splice_region ANAPC7 9041 73530 0.122957 36765 803 0.21726
12-110819759-G-GAAAAAA c.1038-7_1038-6insTTTTTT splice_region ANAPC7 95 78640 0.00120804 39320 18 NA
12-110819759-G-GAAAAA c.1038-7_1038-6insTTTTT splice_region ANAPC7 156 78600 0.00198473 39300 15 NA
12-110819759-G-GAAA c.1038-7_1038-6insTTT splice_region ANAPC7 216 78604 0.00274795 39302 14 NA
12-110819759-G-A c.1038-6C>T splice_region ANAPC7 58 77784 7.45655E-4 38892 0 NA
12-110819759-G-GGAAAAAA c.1038-7_1038-6insTTTTTTC splice_region ANAPC7 21 78678 2.66911E-4 39339 1 NA
12-110819759-GAA-G c.1038-8_1038-7delTT splice_region ANAPC7 2368 77608 0.0305123 38804 84 0.161565
12-110819759-G-GAAAA c.1038-7_1038-6insTTTT splice_region ANAPC7 175 78622 0.00222584 39311 9 NA
12-110819759-G-GAAAAAAAA c.1038-7_1038-6insTTTTTTTT splice_region ANAPC7 162 78598 0.00206112 39299 42 NA
12-110819759-G-GAA c.1038-7_1038-6insTT splice_region ANAPC7 358 78520 0.00455935 39260 16 0.00476668
12-110819759-G-GAAAAAAAAA c.1038-7_1038-6insTTTTTTTTT splice_region ANAPC7 148 78608 0.00188276 39304 38 NA
12-110819759-G-GAAAAAAAAAAA c.1038-7_1038-6insTTTTTTTTTTT splice_region ANAPC7 51 78668 6.48294E-4 39334 12 NA
12-110819759-G-GAAAAAAA c.1038-7_1038-6insTTTTTTT splice_region ANAPC7 89 78616 0.00113209 39308 19 NA
12-110819759-G-GAGAGAAAAAAA c.1038-7_1038-6insTTTTTTTCTCT splice_region ANAPC7 2 78684 2.54181E-5 39342 0 NA
12-110819759-G-GGAA c.1038-7_1038-6insTTC splice_region ANAPC7 6 78684 7.62544E-5 39342 1 NA
12-110819759-G-GAAAAAAAAAA c.1038-8_1038-7insTTTTTTTTTT splice_region ANAPC7 101 78646 0.00128424 39323 32 NA
12-110819759-G-GAAAAAAAAAAAA c.1038-7_1038-6insTTTTTTTTTTTT splice_region ANAPC7 17 78676 2.16076E-4 39338 5 NA
12-110819759-G-GGAAAA c.1038-7_1038-6insTTTTC splice_region ANAPC7 26 78678 3.30461E-4 39339 0 NA
12-110819759-G-GGAAA c.1038-7_1038-6insTTTC splice_region ANAPC7 6 78680 7.62583E-5 39340 0 NA
12-110819759-G-GAGAGAAAA c.1038-7_1038-6insTTTTCTCT splice_region ANAPC7 1 78684 1.27091E-5 39342 0 NA
12-110819759-G-GGAAAAA c.1038-7_1038-6insTTTTTC splice_region ANAPC7 12 78682 1.52513E-4 39341 0 NA
12-110819759-G-GGA c.1038-7_1038-6insTC splice_region ANAPC7 35 78684 4.44817E-4 39342 2 NA
12-110819759-G-GGAAAAAAA c.1038-7_1038-6insTTTTTTTC splice_region ANAPC7 17 78682 2.1606E-4 39341 0 NA
12-110819759-GAAAA-G c.1038-10_1038-7delTTTT splice_region ANAPC7 35 78646 4.45032E-4 39323 0 0.00627195
12-110819759-GAAAAAA-G c.1038-12_1038-7delTTTTTT splice_region ANAPC7 4 78670 5.08453E-5 39335 0 NA
12-110819759-GAAAAA-G c.1038-11_1038-7delTTTTT splice_region ANAPC7 10 78650 1.27146E-4 39325 0 NA
12-110819759-G-GGAAAAAAAA c.1038-7_1038-6insTTTTTTTTC splice_region ANAPC7 11 78684 1.398E-4 39342 0 NA
12-110819759-G-GGAAAAAAAAA c.1038-7_1038-6insTTTTTTTTTC splice_region ANAPC7 5 78680 6.35485E-5 39340 0 NA
12-110819759-G-GAGAGAAAAA c.1038-7_1038-6insTTTTTCTCT splice_region ANAPC7 1 78684 1.27091E-5 39342 0 NA
12-110819759-G-GGAAAAAAAAAAA c.1038-7_1038-6insTTTTTTTTTTTC splice_region ANAPC7 3 78684 3.81272E-5 39342 0 NA
12-110819759-G-GAAAAAAAAAAAAA c.1038-7_1038-6insTTTTTTTTTTTTT splice_region ANAPC7 7 78684 8.89634E-5 39342 1 NA
12-110819759-G-GGAAAAAAAAAA c.1038-7_1038-6insTTTTTTTTTTC splice_region ANAPC7 4 78684 5.08363E-5 39342 0 NA
12-110819759-GAAAAAAA-G c.1038-13_1038-7delTTTTTTT splice_region ANAPC7 1 78684 1.27091E-5 39342 0 NA
12-110819759-G-GAAAAAAAAAAAAAAA c.1038-7_1038-6insTTTTTTTTTTTTTTT splice_region ANAPC7 1 78684 1.27091E-5 39342 0 NA
12-110819760-A-G c.1038-7T>C splice_region ANAPC7 1063 76824 0.0138368 38412 35 0.0765411
12-110819760-A-AGAG c.1038-8_1038-7insCTC splice_region ANAPC7 18 78134 2.30373E-4 39067 0 2.10691E-4
12-110819760-A-AG c.1038-8_1038-7insC splice_region ANAPC7 40 78040 5.12558E-4 39020 1 0.00263364
12-110819760-AA-GG c.1038-8_1038-7delTTinsCC splice_region ANAPC7 4 78136 5.11928E-5 39068 0 NA
12-110819761-AAA-GAG c.1038-10_1038-8delTTTinsCTC splice_region ANAPC7 512 80100 0.00639201 40050 2 NA
12-110819761-A-G c.1038-8T>C splice_region ANAPC7 4395 73666 0.0596612 36833 208 0.277315
12-110819761-AA-GG c.1038-9_1038-8delTTinsCC splice_region ANAPC7 22 80362 2.73761E-4 40181 0 NA
12-110819761-AAA-GGG c.1038-10_1038-8delTTTinsCCC splice_region ANAPC7 5 80366 6.22154E-5 40183 0 NA
12-110819761-AAAA-GGGG c.1038-11_1038-8delTTTTinsCCCC splice_region ANAPC7 1 80384 1.24403E-5 40192 0 NA
12-110819761-AAAAA-GAGAG c.1038-12_1038-8delTTTTTinsCTCTC splice_region ANAPC7 1 80384 1.24403E-5 40192 0 NA
12-110820641-A-G c.1037+7T>C splice_region ANAPC7 2 83190 2.40414E-5 41595 0 8.7955E-5
12-110820665-T-G p.Glu340Asp missense ANAPC7 1 83310 1.20034E-5 41655 0 NA
12-110820688-T-G p.Asn333His missense ANAPC7 1 83336 1.19996E-5 41668 0 NA
12-110820695-G-A p.Arg330Arg synonymous ANAPC7 1 83334 1.19999E-5 41667 0 NA
12-110820696-C-T p.Arg330His missense ANAPC7 1 83336 1.19996E-5 41668 0 8.24606E-6
12-110820697-G-A p.Arg330Cys missense ANAPC7 1 83328 1.20008E-5 41664 0 5.03525E-4
12-110820713-A-C p.Val324Val synonymous ANAPC7 3 83320 3.60058E-5 41660 0 3.18451E-5
12-110820715-C-T p.Val324Ile missense ANAPC7 2 83320 2.40038E-5 41660 0 NA
12-110820718-C-T p.Asp323Asn missense ANAPC7 34 83326 4.08036E-4 41663 0 5.03525E-4
12-110820726-C-T p.Arg320Gln missense ANAPC7 2 83316 2.4005E-5 41658 0 8.24769E-6
12-110820727-G-A p.Arg320Trp missense ANAPC7 2 83318 2.40044E-5 41659 0 3.97959E-6
12-110820728-C-A p.Gly319Gly synonymous ANAPC7 1 83328 1.20008E-5 41664 0 NA
12-110820730-C-T p.Gly319Arg missense ANAPC7 1 83324 1.20013E-5 41662 0 2.47431E-5
12-110820735-C-T p.Arg317Gln missense ANAPC7 2 83316 2.4005E-5 41658 0 3.1841E-5
12-110820748-A-T p.Tyr313Asn missense ANAPC7 1 83278 1.2008E-5 41639 0 NA
12-110820763-T-C p.Met308Val missense+splice_region ANAPC7 1 83234 1.20143E-5 41617 0 NA
12-110824128-T-C c.919+4A>G splice_region ANAPC7 2 83276 2.40165E-5 41638 0 8.23737E-6
12-110824137-A-G p.Ile305Thr missense ANAPC7 1 83312 1.20031E-5 41656 0 3.98172E-6
12-110824163-C-T p.Gln296Gln synonymous ANAPC7 1 83346 1.19982E-5 41673 0 NA
12-110824177-G-A p.Leu292Phe missense ANAPC7 8 83360 9.59693E-5 41680 0 6.25E-4
12-110824184-G-GT p.Asn289fs frameshift ANAPC7 1 83356 1.19967E-5 41678 0 NA
12-110824204-T-G p.Arg283Arg synonymous ANAPC7 9 83352 1.07976E-4 41676 0 6.36862E-5
12-110824227-C-T p.Gly275Glu missense ANAPC7 1 83346 1.19982E-5 41673 0 NA
12-110824240-C-T p.Val271Met missense ANAPC7 1 83322 1.20016E-5 41661 0 7.9804E-6
12-110824241-G-A p.Asn270Asn synonymous ANAPC7 2 83318 2.40044E-5 41659 0 8.2371E-6
12-110824249-G-A p.Arg268* stop_gained ANAPC7 1 83312 1.20031E-5 41656 0 4.01136E-6
12-110824257-G-C p.Ser265Cys missense ANAPC7 5 83292 6.00298E-5 41646 0 NA
12-110824268-T-C p.Leu261Leu synonymous ANAPC7 3 83272 3.60265E-5 41636 0 1.21084E-5
12-110824272-G-T p.Ser260* stop_gained ANAPC7 1 83262 1.20103E-5 41631 0 NA
12-110825543-C-CAGATCTGCCAAGCTTCCCAATAGGTCCACGTTATCTCGCAATAAGGATTTTTTCTCTAGTGAA p.Cys259_Ser260insSerLeuGluLysLysSerLeuLeuArgAspAsnValAspLeuLeuGlySerLeuAlaAspLeu conservative_inframe_insertion ANAPC7 1 83290 1.20062E-5 41645 0 NA
12-110825589-GC-G p.Ala244fs frameshift ANAPC7 1 83320 1.20019E-5 41660 0 NA
12-110825591-A-G p.Tyr243Tyr synonymous ANAPC7 429 83320 0.00514882 41660 11 0.0111196
12-110825592-T-A p.Tyr243Phe missense ANAPC7 1 83328 1.20008E-5 41664 0 NA
12-110825594-C-T p.Ala242Ala synonymous ANAPC7 6 83332 7.20012E-5 41666 0 6.3743E-5
12-110825595-G-A p.Ala242Val missense ANAPC7 2 83328 2.40015E-5 41664 0 1.19323E-5
12-110825598-T-G p.Lys241Thr missense ANAPC7 1 83330 1.20005E-5 41665 0 1.19318E-5
12-110825607-A-C p.Val238Gly missense ANAPC7 1 83338 1.19993E-5 41669 0 NA
12-110825608-C-G p.Val238Leu missense ANAPC7 1 83344 1.19985E-5 41672 0 1.6487E-5
12-110825612-G-C p.Leu236Leu synonymous ANAPC7 1 83348 1.19979E-5 41674 0 NA
12-110825615-C-G p.Trp235Cys missense ANAPC7 1 83352 1.19973E-5 41676 0 6.36983E-5
12-110825621-C-T p.Leu233Leu synonymous ANAPC7 1 83344 1.19985E-5 41672 0 3.97709E-6
12-110825623-A-G p.Leu233Leu synonymous ANAPC7 1 83344 1.19985E-5 41672 0 NA
12-110825626-T-A p.Asn232Tyr missense ANAPC7 4 83352 4.79893E-5 41676 0 2.23001E-4
12-110825632-C-T p.Val230Met missense ANAPC7 1 83348 1.19979E-5 41674 0 1.65036E-5
12-110825633-G-A p.Thr229Thr synonymous ANAPC7 2 83350 2.39952E-5 41675 0 1.1932E-5
12-110825646-T-C p.Asn225Ser missense ANAPC7 2 83338 2.39987E-5 41669 0 NA
12-110825679-A-G p.Val214Ala missense ANAPC7 1 83240 1.20135E-5 41620 0 NA
12-110825693-C-T p.Leu209Leu synonymous ANAPC7 3 83190 3.6062E-5 41595 0 2.52547E-5
12-110826309-A-C c.622+8T>G splice_region ANAPC7 4 81262 4.92235E-5 40631 0 NA
12-110826327-A-G p.Asp204Asp synonymous ANAPC7 1 81820 1.2222E-5 40910 0 8.24212E-6
12-110826343-C-T p.Cys199Tyr missense ANAPC7 2 82110 2.43576E-5 41055 0 5.03525E-4
12-110826363-A-G p.Tyr192Tyr synonymous ANAPC7 1 82528 1.21171E-5 41264 0 NA
12-110826365-A-T p.Tyr192Asn missense ANAPC7 3 82566 3.63346E-5 41283 0 NA
12-110826369-G-A p.Thr190Thr synonymous ANAPC7 1 82604 1.2106E-5 41302 0 2.47154E-5
12-110826370-G-A p.Thr190Ile missense ANAPC7 2 82604 2.42119E-5 41302 0 3.97975E-6
12-110826390-A-C p.Gly183Gly synonymous ANAPC7 1 82716 1.20896E-5 41358 0 NA
12-110826418-A-G p.Met174Thr missense ANAPC7 1 82588 1.21083E-5 41294 0 NA
12-110826419-T-C p.Met174Val missense ANAPC7 1 82554 1.21133E-5 41277 0 3.29815E-5
12-110832918-T-C p.Gln166Gln synonymous ANAPC7 1 83324 1.20013E-5 41662 0 8.25641E-6
12-110832924-T-G p.Ser164Ser synonymous ANAPC7 6 83338 7.1996E-5 41669 0 9.55657E-5
12-110832941-G-A p.Leu159Phe missense ANAPC7 2 83332 2.40004E-5 41666 0 NA
12-110832950-T-C p.Ile156Val missense ANAPC7 1 83326 1.20011E-5 41663 0 NA
12-110832973-AT-A p.Met148fs frameshift ANAPC7 1 83300 1.20048E-5 41650 0 NA
12-110832976-GTATAA-G p.Tyr146fs frameshift ANAPC7 1 83294 1.20057E-5 41647 0 NA
12-110832976-G-A p.Thr147Ile missense ANAPC7 1 83294 1.20057E-5 41647 0 NA
12-110832977-T-C p.Thr147Ala missense ANAPC7 1 83294 1.20057E-5 41647 0 NA
12-110832986-C-T p.Glu144Lys missense ANAPC7 1 83270 1.20091E-5 41635 0 NA
12-110832986-C-A p.Glu144* stop_gained ANAPC7 1 83270 1.20091E-5 41635 0 NA
12-110832989-C-T p.Ala143Thr missense ANAPC7 1 83262 1.20103E-5 41631 0 NA
12-110832996-G-A p.Tyr140Tyr synonymous ANAPC7 1 83242 1.20132E-5 41621 0 1.65325E-5
12-110833017-T-C p.His49Arg missense ANAPC7 1 83104 1.20331E-5 41552 0 4.02881E-6
12-110833022-G-T p.Leu132Ile missense ANAPC7 9 83052 1.08366E-4 41526 0 1.00538E-4
12-110834085-T-G p.Thr126Pro missense ANAPC7 1 83122 1.20305E-5 41561 0 NA
12-110834089-T-C p.Ala124Ala synonymous ANAPC7 1 83190 1.20207E-5 41595 0 1.64967E-5
12-110834090-G-A p.Ala124Val missense ANAPC7 2 83192 2.40408E-5 41596 0 NA
12-110834106-A-G p.Ser119Pro missense ANAPC7 1 83244 1.20129E-5 41622 0 8.24294E-6
12-110834109-G-C p.Pro118Ala missense ANAPC7 1 83266 1.20097E-5 41633 0 8.24266E-6
12-110834120-G-A p.Ser114Leu missense ANAPC7 1 83278 1.2008E-5 41639 0 NA
12-110834122-A-G p.Thr113Thr synonymous ANAPC7 1 83280 1.20077E-5 41640 0 8.24171E-6
12-110834131-T-C p.Leu110Leu synonymous ANAPC7 1 83270 1.20091E-5 41635 0 7.16561E-5
12-110834135-G-A p.Ala109Val missense ANAPC7 2 83266 2.40194E-5 41633 0 2.47276E-5
12-110834180-C-T p.Arg94Gln missense ANAPC7 1 83222 1.20161E-5 41611 0 1.65221E-5
12-110834181-G-A p.Arg94Trp missense ANAPC7 2 83218 2.40333E-5 41609 0 NA
12-110834185-T-C p.Glu92Glu synonymous ANAPC7 2 83216 2.40338E-5 41608 0 7.96039E-6
12-110834192-T-A p.Asp90Val missense ANAPC7 1 83224 1.20158E-5 41612 0 NA
12-110834193-C-T p.Asp90Asn missense ANAPC7 1 83224 1.20158E-5 41612 0 3.98073E-6
12-110834195-T-G p.His89Pro missense ANAPC7 1 83220 1.20163E-5 41610 0 NA
12-110834200-G-C p.Leu87Leu synonymous ANAPC7 1 83204 1.20187E-5 41602 0 NA
12-110834204-G-C p.Ser86Cys missense ANAPC7 1 83182 1.20218E-5 41591 0 3.18898E-5
12-110834213-T-C p.His83Arg missense ANAPC7 1 83164 1.20244E-5 41582 0 NA
12-110834214-G-A p.His83Tyr missense ANAPC7 2 83150 2.40529E-5 41575 0 1.19786E-5
12-110834246-G-C p.Ser72Cys missense ANAPC7 1 83028 1.20441E-5 41514 0 NA
12-110834260-A-G c.204-3T>C splice_region ANAPC7 2 82790 2.41575E-5 41395 0 NA
12-110834261-G-C c.204-4C>G splice_region ANAPC7 2 82772 2.41628E-5 41386 0 1.96329E-5
12-110834263-A-G c.204-6T>C splice_region ANAPC7 1 82728 1.20878E-5 41364 0 1.96232E-5
12-110841344-C-T p.Ser64Asn missense ANAPC7 4 80208 4.98703E-5 40104 0 NA
12-110841344-C-G p.Ser64Thr missense ANAPC7 1 80208 1.24676E-5 40104 0 NA
12-110841379-G-A p.Asn52Asn synonymous ANAPC7 262 81276 0.00322358 40638 10 0.022628
12-110841380-T-C p.Asn52Ser missense ANAPC7 1 81272 1.23044E-5 40636 0 NA
12-110841386-T-C p.His50Arg missense ANAPC7 1 81338 1.22944E-5 40669 0 NA
12-110841390-G-GC p.Leu49fs frameshift ANAPC7 1 81402 1.22847E-5 40701 0 NA
12-110841394-C-T p.Ala47Ala synonymous ANAPC7 5 81466 6.13753E-5 40733 0 0.00151362
12-110841395-G-A p.Ala47Val missense ANAPC7 3 81444 3.68351E-5 40722 0 6.21736E-5
12-110841396-C-A p.Ala47Ser missense ANAPC7 5 81462 6.13783E-5 40731 0 1.59297E-4
12-110841406-G-C p.Asp43Glu missense ANAPC7 2 81814 2.44457E-5 40907 0 NA
12-110841412-C-G p.Val41Val synonymous ANAPC7 1 81878 1.22133E-5 40939 0 4.25782E-6
12-110841415-G-A p.His40His synonymous ANAPC7 1 81894 1.22109E-5 40947 0 NA
12-110841418-G-A p.Asp39Asp synonymous ANAPC7 2 81910 2.4417E-5 40955 0 1.6197E-5
12-110841434-C-T p.Arg34Lys missense ANAPC7 2 82012 2.43867E-5 41006 0 8.99515E-6
12-110841434-C-A p.Arg34Met missense ANAPC7 3 82012 3.658E-5 41006 0 1.79903E-5
12-110841435-T-G p.Arg34Arg synonymous ANAPC7 1 82000 1.21951E-5 41000 0 NA
12-110841437-C-T p.Ser33Asn missense ANAPC7 3073 81954 0.0374966 40977 87 0.091138
12-110841439-C-G p.Gln32His missense ANAPC7 676 81996 0.0082443 40998 6 0.0231621
12-110841446-G-A p.Ala30Val missense ANAPC7 1 81986 1.21972E-5 40993 0 4.6753E-5
12-110841447-C-G p.Ala30Pro missense ANAPC7 2 81998 2.43908E-5 40999 0 6.25782E-4
12-110841448-C-A p.Ala29Ala synonymous ANAPC7 1 81986 1.21972E-5 40993 0 NA
12-110841449-GC-AA p.Ala29Leu missense ANAPC7 2 81984 2.4395E-5 40992 0 NA
12-110841450-C-CG p.Ala29fs frameshift ANAPC7 1 81990 1.21966E-5 40995 0 NA
12-110841450-CGGGCAGCG-C p.Pro26fs frameshift ANAPC7 4 81990 4.87864E-5 40995 0 2.7239E-5
12-110841454-C-G p.Leu27Leu synonymous ANAPC7 1 82014 1.2193E-5 41007 0 5.49076E-6
12-110841457-C-T p.Pro26Pro synonymous ANAPC7 2 82010 2.43873E-5 41005 0 5.48968E-6
12-110841458-G-C p.Pro26Arg missense ANAPC7 1 82000 1.21951E-5 41000 0 NA
12-110841459-GC-G p.Pro26fs frameshift ANAPC7 1 82002 1.21948E-5 41001 0 NA
12-110841461-G-C p.Pro25Arg missense ANAPC7 1 81978 1.21984E-5 40989 0 NA
12-110841463-C-A p.Leu24Leu synonymous ANAPC7 1 81884 1.22124E-5 40942 0 5.69366E-6
12-110841464-A-G p.Leu24Pro missense ANAPC7 3 81884 3.66372E-5 40942 0 1.05182E-4
12-110841470-G-A p.Ser22Leu missense ANAPC7 90 81902 0.00109887 40951 0 0.00302419
12-110841472-C-T p.Glu21Glu synonymous ANAPC7 2 81896 2.44212E-5 40948 0 NA
12-110841475-G-A p.Phe20Phe synonymous ANAPC7 4 81932 4.8821E-5 40966 0 0.00302419
12-110841475-G-C p.Phe20Leu missense ANAPC7 2 81932 2.44105E-5 40966 0 4.15144E-5
12-110841480-G-A p.Leu19Phe missense ANAPC7 1 81922 1.22067E-5 40961 0 1.23138E-5
12-110841483-G-A p.Arg18Trp missense ANAPC7 86 81910 0.00104993 40955 0 0.00201816
12-110841484-G-A p.Tyr17Tyr synonymous ANAPC7 2 81904 2.44188E-5 40952 0 4.62321E-5
12-110841487-G-A p.Leu16Leu synonymous ANAPC7 1 81870 1.22145E-5 40935 0 6.23263E-6
12-110841489-G-C p.Leu16Val missense ANAPC7 3 81868 3.66444E-5 40934 0 6.37146E-5
12-110841489-G-A p.Leu16Phe missense ANAPC7 4 81868 4.88591E-5 40934 0 2.52235E-5
12-110841490-G-A p.Ile15Ile synonymous ANAPC7 1 81874 1.22139E-5 40937 0 6.30469E-6
12-110841492-T-A p.Ile15Phe missense ANAPC7 8 81844 9.77469E-5 40922 0 0.0015213
12-110841493-C-T p.Arg14Arg synonymous ANAPC7 1 81846 1.22181E-5 40923 0 6.31186E-6
12-110841495-T-G p.Arg14Arg synonymous ANAPC7 2 81832 2.44403E-5 40916 0 6.32455E-6
12-110841496-T-G p.Leu13Leu synonymous ANAPC7 19 81836 2.32172E-4 40918 0 0.00152749
12-110841504-A-T p.Ser11Thr missense ANAPC7 2 81734 2.44696E-5 40867 0 3.19285E-5
12-110841507-C-G p.Glu10Gln missense ANAPC7 1 81710 1.22384E-5 40855 0 6.38333E-6
12-110841519-C-A p.Ala6Ser missense ANAPC7 1 81116 1.2328E-5 40558 0 NA
12-110841525-C-T p.Gly4Ser missense ANAPC7 20 81044 2.4678E-4 40522 0 5.09879E-4
12-110841529-G-A p.Asp2Asp synonymous ANAPC7 5 80990 6.1736E-5 40495 0 1.94747E-5
12-110841530-T-A p.Asp2Val missense ANAPC7 1 80598 1.24073E-5 40299 0 5.65803E-5
12-110841530-T-C p.Asp2Gly missense ANAPC7 3 80598 3.72218E-5 40299 0 3.89889E-5
12-110841531-C-A p.Asp2Tyr missense ANAPC7 1 80848 1.23689E-5 40424 0 NA
12-110841533-A-C p.Met1? start_lost ANAPC7 1 80826 1.23723E-5 40413 0 NA