Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-46419010-C-G p.Arg1236Pro missense AMBRA1 1 82950 1.20555E-5 41475 0 6.37511E-5
11-46419010-C-T p.Arg1236Gln missense AMBRA1 4 82950 4.82218E-5 41475 0 2.27278E-5
11-46419011-G-A p.Arg1236Trp missense AMBRA1 3 82916 3.61812E-5 41458 0 6.37389E-5
11-46419015-T-C p.Glu1234Glu synonymous AMBRA1 1 82950 1.20555E-5 41475 0 NA
11-46419016-T-C p.Glu1234Gly missense AMBRA1 1 82952 1.20552E-5 41476 0 NA
11-46419020-C-G p.Gly1233Arg missense AMBRA1 1 83234 1.20143E-5 41617 0 5.55753E-6
11-46419021-C-T p.Arg1232Arg synonymous AMBRA1 2 83232 2.40292E-5 41616 0 7.21581E-5
11-46419035-C-T p.Ala1228Thr missense AMBRA1 2 83258 2.40217E-5 41629 0 6.329E-5
11-46419036-G-A p.Asp1227Asp synonymous AMBRA1 3 83248 3.60369E-5 41624 0 3.61657E-5
11-46419037-T-G p.Asp1227Ala missense AMBRA1 1 83252 1.20117E-5 41626 0 NA
11-46419038-C-T p.Asp1227Asn missense AMBRA1 2 83256 2.40223E-5 41628 0 5.43543E-6
11-46419038-C-A p.Asp1227Tyr missense AMBRA1 1 83256 1.20111E-5 41628 0 9.04257E-6
11-46419040-C-T p.Gly1226Glu missense AMBRA1 1 83268 1.20094E-5 41634 0 NA
11-46419042-C-T p.Arg1225Arg synonymous AMBRA1 37 83264 4.4437E-4 41632 0 0.00352467
11-46419042-C-A p.Arg1225Ser missense AMBRA1 1 83266 1.20097E-5 41633 0 3.18837E-5
11-46419043-C-G p.Arg1225Thr missense AMBRA1 2 83268 2.40188E-5 41634 0 4.52096E-5
11-46419052-C-T p.Gly1222Asp missense AMBRA1 1 83228 1.20152E-5 41614 0 5.29112E-6
11-46419063-A-G p.Leu1218Leu synonymous AMBRA1 1 83198 1.20195E-5 41599 0 3.19326E-5
11-46419069-G-A p.Asn1216Asn synonymous AMBRA1 3 83178 3.60672E-5 41589 0 5.04032E-4
11-46419076-T-C p.Asn1214Ser missense AMBRA1 1 83150 1.20265E-5 41575 0 2.53611E-5
11-46419086-C-T p.Glu1211Lys missense AMBRA1 2 83070 2.40761E-5 41535 0 3.18634E-5
11-46419087-G-A p.Cys1210Cys synonymous AMBRA1 4 83054 4.81614E-5 41527 0 9.55657E-5
11-46419095-G-C p.Leu1208Val missense AMBRA1 1 83006 1.20473E-5 41503 0 NA
11-46419097-G-T p.Thr1207Asn missense AMBRA1 5 82998 6.02424E-5 41499 0 1.80414E-5
11-46419110-C-T p.Ala1203Thr missense AMBRA1 3 82822 3.62223E-5 41411 0 NA
11-46419111-G-A p.Ser1202Ser synonymous AMBRA1 1 82788 1.2079E-5 41394 0 4.4918E-6
11-46419111-G-C p.Ser1202Arg missense AMBRA1 1 82788 1.2079E-5 41394 0 NA
11-46419122-A-G p.Ser1199Pro missense AMBRA1 8 82748 9.66791E-5 41374 0 9.57182E-5
11-46419125-C-A p.Val1198Phe missense AMBRA1 2 82714 2.41797E-5 41357 0 NA
11-46419137-CAG-C p.Pro1193fs frameshift AMBRA1 1 82590 1.2108E-5 41295 0 1.24824E-5
11-46419142-G-A p.Ser1192Phe missense AMBRA1 1 82610 1.21051E-5 41305 0 NA
11-46419144-G-C p.Ser1191Ser synonymous AMBRA1 1 82606 1.21057E-5 41303 0 NA
11-46419148-G-A p.Ser1190Phe missense AMBRA1 2 82568 2.42225E-5 41284 0 3.18654E-5
11-46419149-A-T p.Ser1190Thr missense AMBRA1 3 82546 3.63434E-5 41273 0 NA
11-46419150-G-A p.Pro1189Pro synonymous AMBRA1 1 82564 1.21118E-5 41282 0 4.36635E-5
11-46419152-G-A p.Pro1189Ser missense AMBRA1 1 82530 1.21168E-5 41265 0 8.71369E-6
11-46419153-C-A p.Leu1188Leu synonymous AMBRA1 121 82502 0.00146663 41251 0 0.00163686
11-46419153-C-T p.Leu1188Leu synonymous AMBRA1 1 82506 1.21203E-5 41253 0 NA
11-46419156-G-T p.Thr1187Thr synonymous AMBRA1 1 82512 1.21194E-5 41256 0 NA
11-46419157-G-A p.Thr1187Ile missense AMBRA1 2 82520 2.42365E-5 41260 0 3.46867E-5
11-46419160-G-C p.Pro1186Arg missense AMBRA1 1 82472 1.21253E-5 41236 0 8.64932E-6
11-46419174-C-A p.Arg1181Arg synonymous AMBRA1 1 82368 1.21406E-5 41184 0 NA
11-46419175-C-T p.Arg1181Gln missense AMBRA1 1 82326 1.21468E-5 41163 0 4.01771E-6
11-46419176-G-A p.Arg1181Trp missense AMBRA1 1 82256 1.21572E-5 41128 0 2.00782E-5
11-46419181-G-A p.Pro1179Leu missense AMBRA1 2 82298 2.43019E-5 41149 0 8.48176E-6
11-46419192-C-A p.Gln1175His missense AMBRA1 10 82058 1.21865E-4 41029 0 5.03525E-4
11-46419195-G-C p.Asp1174Glu missense AMBRA1 1 82028 1.2191E-5 41014 0 NA
11-46419211-C-T p.Arg1169Gln missense AMBRA1 3 81812 3.66694E-5 40906 0 1.67577E-5
11-46419212-G-A p.Arg1169Trp missense AMBRA1 3 81780 3.66838E-5 40890 0 1.20505E-5
11-46419213-G-A p.Pro1168Pro synonymous AMBRA1 1 81764 1.22303E-5 40882 0 NA
11-46419214-G-A p.Pro1168Leu missense AMBRA1 1 81752 1.22321E-5 40876 0 NA
11-46419218-T-G p.Ser1167Arg missense AMBRA1 2 81746 2.4466E-5 40873 0 NA
11-46419226-C-T p.Arg1164Gln missense AMBRA1 14 81688 1.71384E-4 40844 0 1.91253E-4
11-46419241-C-T p.Gly1159Glu missense AMBRA1 31 81846 3.7876E-4 40923 0 0.0025
11-46419242-C-T p.Gly1159Arg missense AMBRA1 4 81832 4.88806E-5 40916 0 7.4965E-5
11-46419243-G-A p.Ala1158Ala synonymous AMBRA1 4 81840 4.88759E-5 40920 0 3.18918E-4
11-46419259-C-T p.Gly1153Glu missense AMBRA1 6 82146 7.30407E-5 41073 0 6.37714E-5
11-46419262-C-T p.Arg1152Gln missense AMBRA1 1 82212 1.21637E-5 41106 0 6.37959E-5
11-46419263-G-A p.Arg1152Trp missense AMBRA1 6 82246 7.29519E-5 41123 1 4.14979E-5
11-46419269-T-G p.Thr1150Pro missense AMBRA1 1 82314 1.21486E-5 41157 0 4.01097E-6
11-46419282-TGAG-T p.Ser1145del disruptive_inframe_deletion AMBRA1 6 82506 7.2722E-5 41253 0 3.20102E-5
11-46419282-T-G p.Ser1145Ser synonymous AMBRA1 1 82506 1.21203E-5 41253 0 NA
11-46419297-G-A p.Ala1140Ala synonymous AMBRA1 5 82680 6.04741E-5 41340 0 0.001875
11-46419301-C-T p.Gly1139Asp missense AMBRA1 1 82752 1.20843E-5 41376 0 4.00349E-6
11-46419305-G-C p.Pro1138Ala missense AMBRA1 10 82790 1.20788E-4 41395 0 3.18776E-5
11-46419309-A-G p.Thr1136Thr synonymous AMBRA1 1 82802 1.2077E-5 41401 0 4.00484E-6
11-46419315-C-T p.Thr1134Thr synonymous AMBRA1 2 82782 2.41598E-5 41391 0 4.96393E-5
11-46419320-G-A p.Gln1133* stop_gained AMBRA1 1 82874 1.20665E-5 41437 0 NA
11-46419329-G-A p.Arg1130Cys missense AMBRA1 3 82880 3.61969E-5 41440 0 1.65431E-5
11-46419337-CG-TT p.Arg1127Asn missense AMBRA1 1 82828 1.20732E-5 41414 0 NA
11-46419341-GGC-TGA p.SerHis1125IleAsn missense AMBRA1 1 82862 1.20683E-5 41431 0 NA
11-46419347-C-T p.Val1124Ile missense AMBRA1 1 82828 1.20732E-5 41414 0 4.04272E-6
11-46419348-G-A p.Ile1123Ile synonymous AMBRA1 10 82844 1.20709E-4 41422 0 1.98161E-4
11-46419353-T-C p.Ile1122Val missense AMBRA1 1 82866 1.20677E-5 41433 0 NA
11-46419355-T-A p.Asn1121Ile missense AMBRA1 1 82856 1.20691E-5 41428 0 6.25E-4
11-46419363-G-A p.Phe1118Phe synonymous AMBRA1 4 82788 4.83162E-5 41394 0 5.03525E-4
11-46419368-C-T p.Gly1117Ser missense AMBRA1 3 82728 3.62634E-5 41364 0 5.03525E-4
11-46419400-C-T p.Arg1106Gln missense AMBRA1 1 82126 1.21764E-5 41063 0 NA
11-46419402-C-T p.Gln1105Gln synonymous AMBRA1 1 82012 1.21933E-5 41006 0 8.32861E-6
11-46419411-G-A p.Ala1102Ala synonymous AMBRA1 2527 81744 0.0309136 40872 249 0.0632294
11-46419422-C-T p.Gly1099Ser missense AMBRA1 1 81382 1.22877E-5 40691 0 6.25E-4
11-46419423-G-A p.Gly1098Gly synonymous AMBRA1 1 81196 1.23159E-5 40598 0 2.51585E-5
11-46419429-C-T p.Ala1096Ala synonymous AMBRA1 2 81136 2.465E-5 40568 0 8.39081E-6
11-46419430-G-A p.Ala1096Val missense AMBRA1 1 80980 1.23487E-5 40490 0 4.19569E-5
11-46419437-G-A p.Leu1094Leu synonymous AMBRA1 1 80958 1.23521E-5 40479 0 3.18471E-5
11-46419456-C-T p.Ala1087Ala synonymous AMBRA1 2 79782 2.50683E-5 39891 0 NA
11-46419457-G-A p.Ala1087Val missense AMBRA1 7 79688 8.78426E-5 39844 0 1.27145E-4
11-46419468-A-G p.Ser1083Ser synonymous AMBRA1 1 79296 1.2611E-5 39648 0 4.21955E-6
11-46419477-A-T p.Tyr1080* stop_gained AMBRA1 1 78974 1.26624E-5 39487 0 NA
11-46419480-C-T p.Glu1079Glu synonymous AMBRA1 1 78844 1.26833E-5 39422 0 4.25709E-6
11-46419493-C-A p.Gly1075Val missense+splice_region AMBRA1 1 78338 1.27652E-5 39169 0 8.93687E-6
11-46419493-C-T p.Gly1075Asp missense+splice_region AMBRA1 7 78336 8.93587E-5 39168 0 2.58862E-5
11-46430076-T-C p.Ser1070Ser synonymous AMBRA1 1 82048 1.2188E-5 41024 0 4.50357E-6
11-46430081-C-A p.Ala1069Ser missense AMBRA1 1332 82064 0.0162312 41032 14 0.0186707
11-46430081-C-T p.Ala1069Thr missense AMBRA1 2 82120 2.43546E-5 41060 0 1.33605E-5
11-46430081-C-G p.Ala1069Pro missense AMBRA1 2 82120 2.43546E-5 41060 0 9.15114E-6
11-46430082-G-A p.Ala1068Ala synonymous AMBRA1 8 82222 9.72976E-5 41111 0 1.59337E-4
11-46430087-T-C p.Thr1067Ala missense AMBRA1 1 82382 1.21386E-5 41191 0 3.18613E-5
11-46430088-C-T p.Gly1066Gly synonymous AMBRA1 2 82426 2.42642E-5 41213 0 3.18492E-5
11-46430097-C-T p.Pro1063Pro synonymous AMBRA1 1 82560 1.21124E-5 41280 0 0.00125156
11-46430098-G-A p.Pro1063Leu missense AMBRA1 2 82552 2.42272E-5 41276 0 2.6769E-5
11-46430106-C-T p.Arg1060Arg synonymous AMBRA1 1 82744 1.20855E-5 41372 0 3.18512E-5
11-46430124-G-A p.Ala1054Ala synonymous AMBRA1 2 82894 2.41272E-5 41447 0 4.28266E-5
11-46430133-C-T p.Leu1051Leu synonymous AMBRA1 2 82976 2.41034E-5 41488 0 NA
11-46430156-T-TG p.Thr1044fs frameshift AMBRA1 1 83022 1.2045E-5 41511 0 NA
11-46430157-G-A p.Gly1043Gly synonymous AMBRA1 1 83026 1.20444E-5 41513 0 NA
11-46430180-C-T p.Ala1036Thr missense AMBRA1 5 83056 6.02003E-5 41528 0 1.18872E-4
11-46430189-G-A p.Arg1033Trp missense AMBRA1 1 83052 1.20406E-5 41526 0 NA
11-46430219-C-T p.Gly1023Arg missense AMBRA1 1 82814 1.20753E-5 41407 0 1.7558E-5
11-46430240-A-G p.Trp1016Arg missense AMBRA1 1 82450 1.21286E-5 41225 0 4.66993E-6
11-46430254-G-A p.Thr1011Ile missense+splice_region AMBRA1 18 81794 2.20065E-4 40897 0 3.50318E-4
11-46430258-T-C c.3030-2A>G splice_acceptor AMBRA1 2 81644 2.44966E-5 40822 0 NA
11-46431819-A-G c.3029+7T>C splice_region AMBRA1 1 82690 1.20934E-5 41345 0 3.98356E-6
11-46431831-C-G p.Arg1008Arg synonymous AMBRA1 2 82882 2.41307E-5 41441 0 8.25737E-6
11-46431832-C-T p.Arg1008Gln missense AMBRA1 1 82890 1.20642E-5 41445 0 1.99143E-5
11-46431836-C-G p.Glu1007Gln missense AMBRA1 1 82936 1.20575E-5 41468 0 8.25546E-6
11-46431839-T-C p.Ser1006Gly missense AMBRA1 1 82952 1.20552E-5 41476 0 NA
11-46431846-G-A p.Ser1003Ser synonymous AMBRA1 1 83008 1.2047E-5 41504 0 NA
11-46431847-C-G p.Ser1003Thr missense AMBRA1 12 83014 1.44554E-4 41507 0 9.55049E-5
11-46431850-T-C p.Asn1002Ser missense AMBRA1 1 83032 1.20435E-5 41516 0 NA
11-46431860-C-T p.Val999Ile missense AMBRA1 1 83062 1.20392E-5 41531 0 1.65079E-5
11-46431862-G-A p.Thr998Ile missense AMBRA1 2 83066 2.40772E-5 41533 0 8.25437E-6
11-46431867-G-A p.Val996Val synonymous AMBRA1 2 83062 2.40784E-5 41531 0 NA
11-46431904-C-T p.Gly984Asp missense AMBRA1 2 82908 2.41231E-5 41454 0 NA
11-46431910-T-C p.Asn982Ser missense AMBRA1 2 82826 2.4147E-5 41413 0 7.56839E-5
11-46431918-C-CTCTGGTCGGCAGATCACCAGGTCTCCTTTGTTAGTA c.2937-1_2937insTACTAACAAAGGAGACCTGGTGATCTGCCGACCAGA splice_acceptor AMBRA1 1 82698 1.20922E-5 41349 0 NA
11-46431918-C-CT c.2937-1_2937insA splice_acceptor AMBRA1 1 82692 1.20931E-5 41346 0 NA
11-46431920-TA-T c.2937-3delT splice_region AMBRA1 1 82674 1.20957E-5 41337 0 NA
11-46439469-C-A p.Arg977Leu missense AMBRA1 1 82652 1.20989E-5 41326 0 NA
11-46439490-T-G p.Lys970Thr missense AMBRA1 1 83066 1.20386E-5 41533 0 3.98622E-6
11-46439504-G-C p.Ala965Ala synonymous AMBRA1 1 83194 1.20201E-5 41597 0 NA
11-46439509-A-G p.Leu964Leu synonymous AMBRA1 5 83220 6.00817E-5 41610 0 6.25E-4
11-46439510-G-A p.Gly963Gly synonymous AMBRA1 1 83228 1.20152E-5 41614 0 1.64731E-5
11-46439537-G-A p.Ala954Ala synonymous AMBRA1 1 83334 1.19999E-5 41667 0 5.04541E-4
11-46439568-T-C p.Asp944Gly missense AMBRA1 1 83252 1.20117E-5 41626 0 NA
11-46439570-G-A p.Ala943Ala synonymous AMBRA1 4 83240 4.80538E-5 41620 0 3.1953E-5
11-46439571-G-A p.Ala943Val missense AMBRA1 1 83218 1.20166E-5 41609 0 1.20189E-5
11-46439574-G-A p.Pro942Leu missense AMBRA1 1 83236 1.2014E-5 41618 0 4.00026E-6
11-46439575-G-A p.Pro942Ser missense AMBRA1 1 83224 1.20158E-5 41612 0 4.00882E-6
11-46439580-G-A p.Pro940Leu missense AMBRA1 9 83230 1.08134E-4 41615 0 3.29804E-5
11-46439586-A-G p.Leu938Pro missense AMBRA1 2 83204 2.40373E-5 41602 0 1.20268E-5
11-46439587-G-C p.Leu938Val missense AMBRA1 10 83184 1.20215E-4 41592 0 0.00100908
11-46439592-T-C p.Asn936Ser missense AMBRA1 1 82912 1.2061E-5 41456 0 8.25928E-6
11-46439602-T-TCCTCATGGAGGTCTCTCCACCATGGGCCTGTTGCAGCCTGAAGAC c.2797-1_2797insGTCTTCAGGCTGCAACAGGCCCATGGTGGAGAGACCTCCATGAGG splice_acceptor AMBRA1 1 82680 1.20948E-5 41340 0 NA
11-46455059-G-A p.Leu921Leu synonymous AMBRA1 5 82926 6.02947E-5 41463 0 2.22944E-4
11-46455060-C-T p.Arg920Arg synonymous AMBRA1 1 82940 1.20569E-5 41470 0 1.59236E-4
11-46455080-T-C p.Met914Val missense AMBRA1 5 83014 6.02308E-5 41507 0 5.78493E-5
11-46455089-T-C p.Thr911Ala missense AMBRA1 1 83048 1.20412E-5 41524 0 7.9602E-6
11-46455093-G-A p.Pro909Pro synonymous AMBRA1 1 83052 1.20406E-5 41526 0 3.18451E-5
11-46455096-G-A p.His908His synonymous AMBRA1 1 83056 1.20401E-5 41528 0 NA
11-46455105-G-A p.Ile905Ile synonymous AMBRA1 2 83060 2.4079E-5 41530 0 NA
11-46455134-C-T p.Val896Ile missense AMBRA1 1 83040 1.20424E-5 41520 0 NA
11-46455141-G-A p.Gly893Gly synonymous AMBRA1 1 83002 1.20479E-5 41501 0 0.00100806
11-46455146-T-C p.Met892Val missense AMBRA1 11 82976 1.32568E-4 41488 0 1.31436E-4
11-46455159-C-T p.Val887Val synonymous AMBRA1 1 82904 1.20621E-5 41452 0 NA
11-46455160-A-G p.Val887Ala missense AMBRA1 2 82904 2.41243E-5 41452 0 3.98581E-6
11-46455162-C-T p.Ser886Ser synonymous AMBRA1 3 82870 3.62013E-5 41435 0 5.01312E-5
11-46455168-G-T p.Ala884Ala synonymous AMBRA1 1 82844 1.20709E-5 41422 0 3.18512E-5
11-46455186-C-T c.2642-8G>A splice_region AMBRA1 2 82626 2.42055E-5 41313 0 4.01139E-6
11-46456418-C-G p.Met874Ile missense AMBRA1 2 82976 2.41034E-5 41488 0 NA
11-46456424-G-A p.Gly872Gly synonymous AMBRA1 2 83046 2.4083E-5 41523 0 5.05051E-4
11-46456427-C-T p.Leu871Leu synonymous AMBRA1 1 83076 1.20372E-5 41538 0 8.45037E-6
11-46456436-G-A p.Pro868Pro synonymous AMBRA1 3 83092 3.61046E-5 41546 0 1.60009E-5
11-46456439-G-C p.Ala867Ala synonymous AMBRA1 188 83062 0.00226337 41531 1 0.00532356
11-46456440-G-A p.Ala867Val missense AMBRA1 1 83068 1.20383E-5 41534 0 8.37745E-6
11-46456444-G-A p.Leu866Leu synonymous AMBRA1 1536 83068 0.0184909 41534 22 0.0162903
11-46456445-G-A p.Ser865Ser synonymous AMBRA1 3 83096 3.61028E-5 41548 0 6.37024E-5
11-46456446-G-A p.Ser865Phe missense AMBRA1 2 83074 2.40749E-5 41537 0 NA
11-46456454-T-C p.Ala862Ala synonymous AMBRA1 1 83092 1.20349E-5 41546 0 NA
11-46456484-C-T p.Gln852Gln synonymous AMBRA1 1 82950 1.20555E-5 41475 0 1.595E-5
11-46456490-G-A p.Ser850Ser synonymous AMBRA1 21 82876 2.53391E-4 41438 0 5.41298E-4
11-46456507-C-A p.Ala845Ser missense AMBRA1 1 82862 1.20683E-5 41431 0 NA
11-46456512-A-T p.Leu843His missense AMBRA1 1 82858 1.20688E-5 41429 0 NA
11-46456514-C-T p.Gln842Gln synonymous AMBRA1 1 82850 1.207E-5 41425 0 8.66671E-6
11-46456522-C-G p.Asp840His missense AMBRA1 2 82858 2.41377E-5 41429 0 NA
11-46456524-G-A p.Ala839Val missense AMBRA1 1 82848 1.20703E-5 41424 0 NA
11-46456540-T-C p.Ser834Gly missense AMBRA1 1 82818 1.20747E-5 41409 0 NA
11-46456544-A-G p.Asp832Asp synonymous AMBRA1 8 82790 9.663E-5 41395 0 3.18492E-5
11-46456551-T-C p.Tyr830Cys missense AMBRA1 1 82768 1.2082E-5 41384 0 9.15952E-6
11-46456555-T-C p.Ile829Val missense AMBRA1 1 82722 1.20887E-5 41361 0 3.18532E-5
11-46456582-C-T p.Val820Met missense AMBRA1 1 82278 1.21539E-5 41139 0 7.51912E-5
11-46456583-G-A p.Ser819Ser synonymous AMBRA1 1 82220 1.21625E-5 41110 0 0.0015121
11-46456587-G-GCATTACTGATTTCAGGGAGGTCAAACTTAGTGAAGTCCCACCA c.2453-1_2453insTGGTGGGACTTCACTAAGTTTGACCTCCCTGAAATCAGTAATG splice_acceptor AMBRA1 6 82120 7.30638E-5 41060 3 NA
11-46456587-G-GCATTA c.2453-1_2453insTAATG splice_acceptor AMBRA1 4 82120 4.87092E-5 41060 2 NA
11-46456588-C-CATTACTGATTTCAGGGAGGTCAAACTTAGTGAAGTCCCACCACTGGAGCCGG c.2453-2_2453-1insCCGGCTCCAGTGGTGGGACTTCACTAAGTTTGACCTCCCTGAAATCAGTAAT splice_acceptor AMBRA1 2 82088 2.43641E-5 41044 1 NA
11-46456591-C-T c.2453-4G>A splice_region AMBRA1 1 81934 1.22049E-5 40967 0 1.19246E-5
11-46456592-A-T c.2453-5T>A splice_region AMBRA1 2 81906 2.44182E-5 40953 0 NA
11-46465033-C-T c.2452+5G>A splice_region AMBRA1 1 83274 1.20085E-5 41637 0 NA
11-46465034-T-G c.2452+4A>C splice_region AMBRA1 1 83282 1.20074E-5 41641 0 NA
11-46465038-C-T p.Ala818Thr missense+splice_region AMBRA1 1 83316 1.20025E-5 41658 0 0.00125
11-46465055-A-G p.Leu812Pro missense AMBRA1 2 83336 2.39992E-5 41668 0 1.6553E-5
11-46465089-G-A p.Arg801Trp missense AMBRA1 1 83356 1.19967E-5 41678 0 8.28858E-6
11-46465093-G-A p.Thr799Thr synonymous AMBRA1 2 83360 2.39923E-5 41680 0 1.65868E-5
11-46465100-T-C p.Asn797Ser missense AMBRA1 4 83366 4.79812E-5 41683 0 0.00125
11-46465101-T-C p.Asn797Asp missense AMBRA1 1 83362 1.19959E-5 41681 0 3.1837E-5
11-46465107-T-C p.Ile795Val missense AMBRA1 1 83358 1.19964E-5 41679 0 1.66353E-5
11-46465150-T-TGCCAGGACCCTGTTAACAGAAGAGTGAGTAGCCAAGCCAGGC c.2342-3_2342-2insGCCTGGCTTGGCTACTCACTCTTCTGTTAACAGGGTCCTGGC splice_region AMBRA1 2 83268 2.40188E-5 41634 1 NA
11-46465150-T-TGCCAGGACCCTGTTAACAGAAGAGTGAGTAGCCAAGCCAGGCTG c.2342-3_2342-2insCAGCCTGGCTTGGCTACTCACTCTTCTGTTAACAGGGTCCTGGC splice_region AMBRA1 2 83268 2.40188E-5 41634 1 NA
11-46515162-C-T p.Leu779Leu synonymous AMBRA1 2 82620 2.42072E-5 41310 0 4.17872E-5
11-46515165-G-A p.Val778Val synonymous AMBRA1 2 82642 2.42008E-5 41321 0 8.34112E-6
11-46515201-C-T p.Gln766Gln synonymous AMBRA1 2 82942 2.41132E-5 41471 0 9.97473E-5
11-46515209-G-A p.Arg764Cys missense AMBRA1 1 82944 1.20563E-5 41472 0 NA
11-46515213-A-G p.His762His synonymous AMBRA1 1 82962 1.20537E-5 41481 0 2.4919E-5
11-46515677-G-T p.Pro746Gln missense AMBRA1 2 82312 2.42978E-5 41156 0 8.34161E-6
11-46515694-C-G p.Ser740Ser synonymous AMBRA1 6 82618 7.26234E-5 41309 0 5.27872E-5
11-46515694-C-T p.Ser740Ser synonymous AMBRA1 1 82618 1.21039E-5 41309 0 6.25E-4
11-46515695-G-A p.Ser740Leu missense AMBRA1 1 82658 1.2098E-5 41329 0 NA
11-46515700-T-C p.Ala738Ala synonymous AMBRA1 1 82662 1.20975E-5 41331 0 2.61213E-5
11-46515706-C-T p.Met736Ile missense AMBRA1 3 82678 3.62853E-5 41339 0 2.61629E-5
11-46515710-C-A p.Arg735Leu missense AMBRA1 1 82676 1.20954E-5 41338 0 NA
11-46515720-G-A p.Arg732Cys missense AMBRA1 1 82600 1.21065E-5 41300 0 1.36192E-5
11-46515726-C-T p.Ala730Thr missense AMBRA1 4 82508 4.84801E-5 41254 0 0.00100705
11-46515728-C-T p.Arg729Gln missense AMBRA1 2 82478 2.42489E-5 41239 0 NA
11-46515729-G-A p.Arg729* stop_gained AMBRA1 1 82474 1.2125E-5 41237 0 NA
11-46515749-T-C p.Asn722Ser missense AMBRA1 37 82060 4.5089E-4 41030 0 4.71505E-4
11-46515751-G-C p.Asp721Glu missense AMBRA1 7 81980 8.53867E-5 40990 0 1.60113E-5
11-46515753-C-CCTCAAAGT p.Asp721fs frameshift AMBRA1 1 81900 1.221E-5 40950 0 NA
11-46515757-GA-G c.2160-4delT splice_region AMBRA1 9 81754 1.10086E-4 40877 0 9.60799E-5
11-46515757-G-GA c.2160-4_2160-3insT splice_region AMBRA1 1 81752 1.22321E-5 40876 0 NA
11-46529755-T-C p.Glu685Glu synonymous AMBRA1 3 83254 3.60343E-5 41627 0 NA
11-46529761-GTCGGT-G p.Thr682fs frameshift AMBRA1 1 83276 1.20083E-5 41638 0 NA
11-46529763-C-T p.Asp683Asn missense AMBRA1 15 83282 1.80111E-4 41641 0 1.6484E-4
11-46529764-G-A p.Thr682Thr synonymous AMBRA1 11 83296 1.32059E-4 41648 0 4.3756E-5
11-46529776-T-C p.Ser678Ser synonymous AMBRA1 2 83326 2.40021E-5 41663 0 3.97722E-5
11-46529778-A-C p.Ser678Ala missense AMBRA1 1 83328 1.20008E-5 41664 0 NA
11-46529779-T-C p.Pro677Pro synonymous AMBRA1 1 83332 1.20002E-5 41666 0 NA
11-46529784-C-G p.Gly676Arg missense AMBRA1 1 83336 1.19996E-5 41668 0 1.1931E-5
11-46529797-G-A p.Ser671Ser synonymous AMBRA1 1 83360 1.19962E-5 41680 0 3.29554E-5
11-46529800-AGAG-A p.Ser670del disruptive_inframe_deletion AMBRA1 1 83360 1.19962E-5 41680 0 1.6478E-5
11-46529823-G-A p.Leu663Phe missense AMBRA1 1 83384 1.19927E-5 41692 0 1.31865E-4
11-46529825-C-T p.Arg662His missense AMBRA1 2 83380 2.39866E-5 41690 0 3.97655E-6
11-46529826-G-A p.Arg662Cys missense AMBRA1 1 83380 1.19933E-5 41690 0 4.1214E-5
11-46529833-T-C p.Gln659Gln synonymous AMBRA1 3 83382 3.5979E-5 41691 0 3.29832E-5
11-46529840-C-T p.Arg657His missense AMBRA1 2 83378 2.39871E-5 41689 0 3.18492E-5
11-46529851-C-G p.Gln653His missense AMBRA1 1 83370 1.19947E-5 41685 0 8.25614E-6
11-46529862-T-C p.Ser650Gly missense AMBRA1 2 83362 2.39917E-5 41681 0 NA
11-46529870-C-T p.Arg647Gln missense AMBRA1 1 83362 1.19959E-5 41681 0 1.1935E-5
11-46529884-G-C p.Ile642Met missense AMBRA1 2 83346 2.39964E-5 41673 0 8.29669E-6
11-46529898-C-T p.Ala638Thr missense AMBRA1 1 83334 1.19999E-5 41667 0 3.98E-6
11-46529899-G-A p.Tyr637Tyr synonymous AMBRA1 66 83334 7.91994E-4 41667 0 0.00340808
11-46529917-T-G p.Leu631Phe missense AMBRA1 1 83280 1.20077E-5 41640 0 NA
11-46534281-C-T p.Ala719Thr missense AMBRA1 1 83252 1.20117E-5 41626 0 NA
11-46534296-T-C p.Ile714Val missense AMBRA1 1 83294 1.20057E-5 41647 0 NA
11-46534328-C-T p.Arg703His missense AMBRA1 3 83300 3.60144E-5 41650 0 1.99477E-5
11-46534329-G-A p.Arg703Cys missense AMBRA1 4 83298 4.80204E-5 41649 0 2.79294E-5
11-46534354-C-T p.Leu694Leu synonymous AMBRA1 1 83246 1.20126E-5 41623 0 NA
11-46534365-T-TCCTGAGTGAATCCTCCTCAGAGCTCTCCTC c.2073-3_2073-2insGAGGAGAGCTCTGAGGAGGATTCACTCAGG splice_region AMBRA1 2 83194 2.40402E-5 41597 1 NA
11-46534365-T-TCCTGAGTGAATCCTCCTCAGAGCTCTCCTCAGGCATATCCTGATGTA c.2073-3_2073-2insTACATCAGGATATGCCTGAGGAGAGCTCTGAGGAGGATTCACTCAGG splice_region AMBRA1 3 83194 3.60603E-5 41597 1 NA
11-46534365-T-TCCTG c.2073-3_2073-2insCAGG splice_region AMBRA1 2 83194 2.40402E-5 41597 1 NA
11-46563493-A-G c.2072+2T>C splice_donor AMBRA1 8 82854 9.65554E-5 41427 0 1.59205E-4
11-46563496-T-C p.Arg691Gly missense+splice_region AMBRA1 2 82904 2.41243E-5 41452 0 NA
11-46563516-G-A p.Ser684Phe missense AMBRA1 4 83132 4.81162E-5 41566 0 2.00282E-5
11-46563535-C-A p.Asp678Tyr missense AMBRA1 1 83204 1.20187E-5 41602 0 3.98337E-6
11-46563567-G-C p.Ser667Cys missense AMBRA1 1 83230 1.20149E-5 41615 0 8.239E-6
11-46563580-G-C p.Gln663Glu missense AMBRA1 5 83234 6.00716E-5 41617 0 7.41497E-5
11-46563592-T-C p.Arg659Gly missense AMBRA1 1 83222 1.20161E-5 41611 0 NA
11-46563605-T-C p.Thr654Thr synonymous AMBRA1 3 83190 3.6062E-5 41595 0 3.98664E-6
11-46563624-A-T p.Val648Glu missense AMBRA1 1 83110 1.20322E-5 41555 0 NA
11-46563626-C-T p.Gly647Gly synonymous AMBRA1 4 83126 4.81197E-5 41563 0 5.03525E-4
11-46563629-C-T p.Val646Val synonymous AMBRA1 5 83122 6.01525E-5 41561 0 1.27413E-4
11-46563641-C-G p.Glu642Asp missense AMBRA1 1 83086 1.20357E-5 41543 0 8.25191E-6
11-46563648-G-A p.Pro640Leu missense AMBRA1 3 83030 3.61315E-5 41515 0 8.256E-6
11-46563668-C-T p.Glu633Glu synonymous AMBRA1 1 82976 1.20517E-5 41488 0 8.28473E-6
11-46563689-C-T p.Thr626Thr synonymous AMBRA1 1 82868 1.20674E-5 41434 0 8.36918E-6
11-46563692-T-C p.Gln625Gln synonymous AMBRA1 1 82898 1.2063E-5 41449 0 1.1973E-5
11-46563705-C-T p.Arg621Gln missense AMBRA1 3 82832 3.62179E-5 41416 0 6.37105E-5
11-46563706-G-A p.Arg621Trp missense AMBRA1 3 82824 3.62214E-5 41412 0 3.18573E-5
11-46563709-C-T p.Glu620Lys missense AMBRA1 2 82796 2.41558E-5 41398 0 8.4956E-6
11-46563710-G-A p.Leu619Leu synonymous AMBRA1 1 82828 1.20732E-5 41414 0 3.21357E-5
11-46563714-G-A p.Pro618Leu missense AMBRA1 1 82838 1.20718E-5 41419 0 NA
11-46563716-T-G p.Pro617Pro synonymous AMBRA1 1 82826 1.20735E-5 41413 0 NA
11-46563717-G-A p.Pro617Leu missense AMBRA1 1 82844 1.20709E-5 41422 0 NA
11-46563721-A-G p.Leu616Leu synonymous AMBRA1 1 82810 1.20758E-5 41405 0 NA
11-46563723-T-G p.Gln615Pro missense AMBRA1 1 82808 1.20761E-5 41404 0 3.18512E-5
11-46563729-C-T p.Gly613Asp missense AMBRA1 1 82802 1.2077E-5 41401 0 8.51861E-6
11-46563737-T-C p.Pro610Pro synonymous AMBRA1 1 82844 1.20709E-5 41422 0 7.65879E-5
11-46563749-A-G p.Phe606Phe synonymous AMBRA1 1 82896 1.20633E-5 41448 0 NA
11-46563753-G-A p.Ser605Phe missense AMBRA1 2 82914 2.41214E-5 41457 0 6.3678E-5
11-46563758-G-A p.Pro603Pro synonymous AMBRA1 1 82976 1.20517E-5 41488 0 3.99677E-6
11-46563760-G-C p.Pro603Ala missense AMBRA1 1 82976 1.20517E-5 41488 0 3.99371E-6
11-46563777-C-T p.Ser597Asn missense AMBRA1 2 83082 2.40726E-5 41541 0 NA
11-46563785-G-A p.Gly594Gly synonymous AMBRA1 1 83094 1.20346E-5 41547 0 0.00125
11-46563786-C-T p.Gly594Asp missense AMBRA1 1 83088 1.20354E-5 41544 0 NA
11-46563788-AGAG-A p.Ser593del disruptive_inframe_deletion AMBRA1 3 83098 3.6102E-5 41549 0 3.18512E-5
11-46563791-G-A p.Ser592Ser synonymous AMBRA1 1 83130 1.20294E-5 41565 0 NA
11-46563792-G-T p.Ser592Tyr missense AMBRA1 11 83136 1.32313E-4 41568 0 1.27397E-4
11-46563795-T-C p.Tyr591Cys missense AMBRA1 117 83114 0.00140771 41557 1 0.00453172
11-46563797-G-A p.Asn590Asn synonymous AMBRA1 1 83122 1.20305E-5 41561 0 3.58306E-5
11-46563819-C-T p.Arg583His missense AMBRA1 7 83090 8.4246E-5 41545 0 2.22958E-4
11-46563820-G-A p.Arg583Cys missense AMBRA1 1 83078 1.20369E-5 41539 0 1.64753E-5
11-46563829-C-T p.Asp580Asn missense AMBRA1 1 83084 1.2036E-5 41542 0 NA
11-46563830-G-A p.Asn579Asn synonymous AMBRA1 22 83092 2.64767E-4 41546 0 3.82068E-4
11-46563831-T-C p.Asn579Ser missense AMBRA1 3 83082 3.61089E-5 41541 0 8.23764E-6
11-46563842-C-G p.Leu575Leu synonymous AMBRA1 2 83048 2.40825E-5 41524 0 NA
11-46563851-G-A p.His572His synonymous AMBRA1 1 83050 1.20409E-5 41525 0 3.18431E-5
11-46563867-C-T p.Arg567His missense AMBRA1 3 83008 3.61411E-5 41504 0 2.38722E-5
11-46563868-G-C p.Arg567Gly missense AMBRA1 1 83010 1.20467E-5 41505 0 NA
11-46563882-C-T p.Arg562His missense AMBRA1 1 83036 1.2043E-5 41518 0 1.64742E-5
11-46563883-G-A p.Arg562Cys missense AMBRA1 2 83056 2.40801E-5 41528 0 1.98902E-5
11-46563891-T-A p.Asn559Ile missense AMBRA1 1 83036 1.2043E-5 41518 0 3.18634E-5
11-46563891-T-G p.Asn559Thr missense AMBRA1 9 83036 1.08387E-4 41518 0 3.29495E-5
11-46563891-T-C p.Asn559Ser missense AMBRA1 3 83036 3.61289E-5 41518 0 9.94431E-5
11-46563911-G-A p.His552His synonymous AMBRA1 1 83004 1.20476E-5 41502 0 5.03525E-4
11-46563919-T-A p.Thr550Ser missense AMBRA1 1 82966 1.20531E-5 41483 0 NA
11-46563926-G-A p.His547His synonymous AMBRA1 1 82926 1.20589E-5 41463 0 3.97845E-6
11-46563933-G-C p.Pro545Arg missense AMBRA1 1 82932 1.20581E-5 41466 0 8.23805E-6
11-46563941-C-T p.Arg542Arg synonymous AMBRA1 2 82878 2.41319E-5 41439 0 NA
11-46563944-C-T p.Glu541Glu synonymous AMBRA1 1 82914 1.20607E-5 41457 0 NA
11-46563954-A-G p.Ile538Thr missense AMBRA1 2 82948 2.41115E-5 41474 0 3.18878E-5
11-46563955-T-C p.Ile538Val missense AMBRA1 1 82960 1.2054E-5 41480 0 NA
11-46563967-G-A p.Leu534Phe missense AMBRA1 1 82952 1.20552E-5 41476 0 5.03525E-4
11-46563992-G-A p.Pro525Pro synonymous AMBRA1 1 83090 1.20351E-5 41545 0 3.98023E-6
11-46563994-G-A p.Pro525Ser missense AMBRA1 2 83102 2.40668E-5 41551 0 8.23886E-6
11-46563997-C-G p.Ala524Pro missense AMBRA1 5 83124 6.01511E-5 41562 0 9.56084E-5
11-46564003-C-T p.Gly522Arg missense AMBRA1 2 83174 2.4046E-5 41587 0 5.03525E-4
11-46564032-C-T p.Arg512Gln missense AMBRA1 60 83252 7.20703E-4 41626 0 0.00150936
11-46564053-C-T p.Arg505His missense AMBRA1 142 83304 0.0017046 41652 1 0.00302115
11-46564054-G-A p.Arg505Cys missense AMBRA1 3 83310 3.60101E-5 41655 0 6.36902E-5
11-46564066-A-G p.Cys501Arg missense AMBRA1 1 83322 1.20016E-5 41661 0 NA
11-46564066-A-C p.Cys501Gly missense AMBRA1 1 83322 1.20016E-5 41661 0 NA
11-46564091-C-T p.Ser492Ser synonymous AMBRA1 540 83344 0.00647917 41672 10 0.011662
11-46564092-G-A p.Ser492Leu missense AMBRA1 4 83348 4.79916E-5 41674 0 4.94764E-5
11-46564096-T-A p.Asn491Tyr missense AMBRA1 3 83342 3.59963E-5 41671 0 6.36902E-5
11-46564106-G-A p.Ser487Ser synonymous AMBRA1 1 83348 1.19979E-5 41674 0 3.99109E-6
11-46564107-G-A p.Ser487Phe missense AMBRA1 1 83350 1.19976E-5 41675 0 NA
11-46564122-T-A p.Asp482Val missense AMBRA1 1 83338 1.19993E-5 41669 0 3.98689E-6
11-46564132-T-C p.Thr479Ala missense AMBRA1 16 83338 1.91989E-4 41669 0 0.00302115
11-46564133-T-G p.Ala478Ala synonymous AMBRA1 1 83334 1.19999E-5 41667 0 3.98479E-6
11-46564135-C-T p.Ala478Thr missense AMBRA1 2 83328 2.40015E-5 41664 0 1.64886E-5
11-46564148-C-T p.Pro473Pro synonymous AMBRA1 3 83304 3.60127E-5 41652 0 1.64867E-5
11-46564149-G-A p.Pro473Leu missense AMBRA1 4 83310 4.80134E-5 41655 0 9.5584E-5
11-46564155-C-A p.Gly471Val missense AMBRA1 10 83306 1.20039E-4 41653 0 0.00125
11-46564164-T-C p.Glu468Gly missense AMBRA1 1 83308 1.20036E-5 41654 0 1.64815E-5
11-46564179-T-A p.Tyr463Phe missense AMBRA1 1 83272 1.20088E-5 41636 0 8.2394E-6
11-46564191-T-C p.Gln459Arg missense AMBRA1 3 83252 3.60352E-5 41626 0 7.95418E-6
11-46564201-C-T p.Gly456Ser missense AMBRA1 1 83220 1.20163E-5 41610 0 NA
11-46564205-C-G p.Gln454His missense AMBRA1 1 83224 1.20158E-5 41612 0 NA
11-46564223-C-G p.Leu448Leu synonymous AMBRA1 1 83174 1.2023E-5 41587 0 NA
11-46564227-A-G p.Leu447Ser missense AMBRA1 2 83172 2.40466E-5 41586 0 3.9769E-6
11-46564230-C-G p.Ser446Thr missense AMBRA1 1 83160 1.2025E-5 41580 0 NA
11-46564235-C-T p.Ser444Ser synonymous AMBRA1 2 83118 2.40622E-5 41559 0 NA
11-46564236-G-A p.Ser444Leu missense AMBRA1 13 83108 1.56423E-4 41554 0 9.88761E-5
11-46564247-G-T p.Thr440Thr synonymous AMBRA1 1 83112 1.2032E-5 41556 0 NA
11-46564261-G-A p.Pro436Ser missense AMBRA1 1 83054 1.20404E-5 41527 0 3.97753E-6
11-46564265-G-C p.Ser434Ser synonymous AMBRA1 148 83056 0.00178193 41528 2 0.0036024
11-46564272-G-A p.Ala432Val missense AMBRA1 29 83050 3.49187E-4 41525 0 8.60421E-4
11-46564277-A-T p.Ser430Ser synonymous AMBRA1 2 83044 2.40836E-5 41522 0 NA
11-46564282-G-A p.Arg429Cys missense AMBRA1 4 83044 4.81672E-5 41522 0 1.98888E-5
11-46564292-A-C p.Ser425Arg missense AMBRA1 6 83058 7.22387E-5 41529 0 5.03525E-4
11-46564305-C-T p.Arg421Gln missense AMBRA1 3 83042 3.61263E-5 41521 0 3.29565E-5
11-46564323-G-A p.Thr415Ile missense AMBRA1 1 83124 1.20302E-5 41562 0 NA
11-46564328-C-T p.Gly413Gly synonymous AMBRA1 2 83118 2.40622E-5 41559 0 NA
11-46564364-G-A p.Ser401Ser synonymous AMBRA1 2 83262 2.40206E-5 41631 0 NA
11-46564367-A-G p.Ser400Ser synonymous AMBRA1 2 83272 2.40177E-5 41636 0 3.97738E-6
11-46564389-C-T p.Arg393His missense AMBRA1 2 83290 2.40125E-5 41645 0 3.1904E-5
11-46564390-G-A p.Arg393Cys missense AMBRA1 1 83298 1.20051E-5 41649 0 1.59323E-5
11-46564391-G-C p.Arg392Arg synonymous AMBRA1 5 83296 6.00269E-5 41648 0 8.25423E-6
11-46564402-C-T p.Gly389Ser missense AMBRA1 1 83100 1.20337E-5 41550 0 NA
11-46564404-A-G p.Leu388Pro missense AMBRA1 1 83114 1.20317E-5 41557 0 NA
11-46564408-T-C p.Ser387Gly missense AMBRA1 4 83136 4.81139E-5 41568 0 0.001875
11-46564416-C-T p.Arg384His missense AMBRA1 1 83154 1.20259E-5 41577 0 3.99023E-6
11-46564418-G-A p.Leu383Leu synonymous AMBRA1 1 83186 1.20213E-5 41593 0 3.98924E-6
11-46564421-C-T p.Thr382Thr synonymous AMBRA1 9 83178 1.08202E-4 41589 0 6.38666E-5
11-46564422-G-A p.Thr382Met missense AMBRA1 1 83202 1.20189E-5 41601 0 7.98314E-6
11-46564429-C-T p.Gly380Ser missense AMBRA1 3 83202 3.60568E-5 41601 0 1.19825E-5
11-46564430-G-A p.Ala379Ala synonymous AMBRA1 1 83198 1.20195E-5 41599 0 6.37511E-5
11-46564450-T-C p.Thr373Ala missense AMBRA1 2 83234 2.40286E-5 41617 0 6.38937E-5
11-46564457-G-A p.Ala370Ala synonymous AMBRA1 1 83244 1.20129E-5 41622 0 NA
11-46564464-G-A p.Pro368Leu missense AMBRA1 2 83238 2.40275E-5 41619 0 0.00125
11-46564465-G-A p.Pro368Ser missense AMBRA1 3 83242 3.60395E-5 41621 0 3.18552E-5
11-46564467-C-T p.Arg367Gln missense AMBRA1 5 83230 6.00745E-5 41615 0 6.3743E-5
11-46564477-G-C p.Leu364Val missense AMBRA1 4 83216 4.80677E-5 41608 0 NA
11-46564490-C-T p.Gln359Gln synonymous AMBRA1 1 83156 1.20256E-5 41578 0 NA
11-46564491-T-C p.Gln359Arg missense AMBRA1 1 83160 1.2025E-5 41580 0 8.35227E-6
11-46564493-C-T p.Thr358Thr synonymous AMBRA1 6 83146 7.21622E-5 41573 0 5.01379E-5
11-46564494-G-A p.Thr358Met missense AMBRA1 12 83156 1.44307E-4 41578 0 8.53041E-5
11-46564495-T-C p.Thr358Ala missense AMBRA1 1 83160 1.2025E-5 41580 0 3.18776E-5
11-46564513-G-C p.Pro352Ala missense AMBRA1 1 83048 1.20412E-5 41524 0 8.44509E-6
11-46564519-G-A p.His350Tyr missense AMBRA1 1 83008 1.2047E-5 41504 0 NA
11-46564529-G-C p.Thr256Thr splice_region+synonymous AMBRA1 1 82760 1.20831E-5 41380 0 2.7401E-4
11-46564547-G-C p.Ser340Ser synonymous AMBRA1 1 82242 1.21592E-5 41121 0 NA
11-46564550-A-G p.Pro339Pro synonymous AMBRA1 1 82116 1.21779E-5 41058 0 NA
11-46564554-G-A p.Thr338Ile missense AMBRA1 1 81966 1.22002E-5 40983 0 4.23664E-6
11-46564585-T-C p.Ser328Gly missense AMBRA1 2 80928 2.47133E-5 40464 0 8.59816E-6
11-46564607-A-G p.Pro320Pro synonymous AMBRA1 3 80698 3.71756E-5 40349 0 3.92078E-5
11-46564608-G-A p.Pro320Leu missense AMBRA1 2 80698 2.47838E-5 40349 0 NA
11-46564624-A-G p.Ser315Pro missense AMBRA1 1 80486 1.24245E-5 40243 0 NA
11-46564630-G-A p.Arg313Cys missense AMBRA1 2 80402 2.4875E-5 40201 0 3.18695E-5
11-46564643-C-G p.Leu308Leu synonymous AMBRA1 1 80252 1.24607E-5 40126 0 NA
11-46564662-C-A p.Cys302Phe missense AMBRA1 1 79932 1.25106E-5 39966 0 5.30774E-6
11-46564690-G-A p.Arg293Trp missense AMBRA1 4 79288 5.0449E-5 39644 0 3.48274E-5
11-46564695-C-T p.Arg291Gln missense AMBRA1 1 79186 1.26285E-5 39593 0 2.90884E-5
11-46564696-G-A p.Arg291* stop_gained AMBRA1 1 79162 1.26323E-5 39581 0 3.18898E-5
11-46564706-G-A p.Tyr287Tyr synonymous AMBRA1 1 79260 1.26167E-5 39630 0 1.16969E-5
11-46564712-G-A p.Ser285Ser synonymous AMBRA1 1 79274 1.26145E-5 39637 0 3.10154E-5
11-46564721-G-A p.Pro282Pro synonymous AMBRA1 1 79424 1.25907E-5 39712 0 NA
11-46564725-C-T p.Arg281His missense AMBRA1 8 78992 1.01276E-4 39496 0 3.67737E-4
11-46564731-G-A p.Thr279Met missense AMBRA1 2 79324 2.52131E-5 39662 0 5.70223E-5
11-46564743-G-T p.Pro275His missense AMBRA1 4 79856 5.00902E-5 39928 0 3.18756E-5
11-46564746-G-T p.Pro274His missense AMBRA1 1 79910 1.25141E-5 39955 0 NA
11-46564747-G-A p.Pro274Ser missense AMBRA1 1 79886 1.25178E-5 39943 0 NA
11-46564748-A-AGGCGGTGGGGGTGAGGGGGT p.Gln276fs frameshift AMBRA1 2 79602 2.5125E-5 39801 0 NA
11-46564749-G-A p.Pro273Leu missense AMBRA1 2 79920 2.5025E-5 39960 0 4.72362E-6
11-46564751-C-T p.Pro272Pro synonymous AMBRA1 1 79738 1.25411E-5 39869 0 3.22789E-5
11-46564752-G-A p.Pro272Leu missense AMBRA1 2 80184 2.49426E-5 40092 0 7.60312E-5
11-46564758-G-A p.Pro270Leu missense AMBRA1 9 80582 1.11687E-4 40291 0 1.28485E-4
11-46564758-G-T p.Pro270His missense AMBRA1 4 80586 4.96364E-5 40293 0 3.02608E-5
11-46564764-G-A p.Pro268Leu missense AMBRA1 1 81084 1.23329E-5 40542 0 9.32935E-5
11-46564766-G-T p.Thr267Thr synonymous AMBRA1 2 81214 2.46263E-5 40607 0 1.28773E-5
11-46564775-A-G p.Asp264Asp synonymous AMBRA1 4 81916 4.88305E-5 40958 0 3.64544E-5
11-46564783-C-T p.Val262Met missense AMBRA1 1 82192 1.21666E-5 41096 0 NA
11-46564790-T-C p.Gln259Gln synonymous AMBRA1 6 82468 7.27555E-5 41234 0 3.60035E-5
11-46564819-G-A p.Arg250Cys missense AMBRA1 2 83048 2.40825E-5 41524 0 1.66658E-5
11-46564831-T-C p.Met246Val missense AMBRA1 1 83184 1.20215E-5 41592 0 1.65568E-5
11-46564837-G-C p.Leu244Val missense AMBRA1 1 83186 1.20213E-5 41593 0 3.18817E-5
11-46564842-T-C p.Asn242Ser missense AMBRA1 1 83226 1.20155E-5 41613 0 7.95716E-6
11-46564856-C-T p.Thr237Thr synonymous AMBRA1 3 83236 3.60421E-5 41618 0 NA
11-46564860-C-T p.Arg236Gln missense AMBRA1 2 83234 2.40286E-5 41617 0 8.25082E-6
11-46564877-T-C p.Gln230Gln synonymous AMBRA1 1 83212 1.20175E-5 41606 0 NA
11-46564878-T-G p.Gln230Pro missense AMBRA1 2 83212 2.4035E-5 41606 0 NA
11-46564882-G-C p.Leu229Val missense AMBRA1 1 83208 1.20181E-5 41604 0 NA
11-46564886-G-T p.Ala227Ala synonymous AMBRA1 1 83186 1.20213E-5 41593 0 NA
11-46564891-G-A p.Arg226Cys missense AMBRA1 1 83158 1.20253E-5 41579 0 NA
11-46564897-G-C p.Arg224Gly missense AMBRA1 1 83120 1.20308E-5 41560 0 NA
11-46564926-G-A p.Pro214Leu missense AMBRA1 1 82642 1.21004E-5 41321 0 NA
11-46564927-G-C p.Pro214Ala missense AMBRA1 141 82602 0.00170698 41301 0 0.00125
11-46564940-G-A p.Asp209Asp synonymous AMBRA1 2 81938 2.44087E-5 40969 0 9.56755E-5
11-46564951-G-GTTGATTAGAGGGGTTAACAATTGCTGTGAGTAAGTAGTGTC c.619-4_619-3insGACACTACTTACTCACAGCAATTGTTAACCCCTCTAATCAA splice_region AMBRA1 2 81338 2.45888E-5 40669 1 NA
11-46564956-G-A c.619-8C>T splice_region AMBRA1 2 80870 2.4731E-5 40435 0 2.47786E-5
11-46565519-A-C c.618+6T>G splice_region AMBRA1 1 83032 1.20435E-5 41516 0 3.98153E-6
11-46565522-T-C c.618+3A>G splice_region AMBRA1 5 83030 6.02192E-5 41515 0 2.15023E-4
11-46565525-C-G p.Gln206His missense+splice_region AMBRA1 1 83046 1.20415E-5 41523 0 8.2409E-6
11-46565531-A-T p.Asn204Lys missense AMBRA1 2 83068 2.40767E-5 41534 0 3.1841E-5
11-46565539-G-C p.Pro202Ala missense AMBRA1 1 83100 1.20337E-5 41550 0 NA
11-46565541-T-G p.Asn201Thr missense AMBRA1 1 83106 1.20328E-5 41553 0 NA
11-46565548-T-C p.Ile199Val missense AMBRA1 5 83102 6.0167E-5 41551 0 3.18431E-5
11-46565564-G-A p.His193His synonymous AMBRA1 4 83100 4.81348E-5 41550 0 6.59554E-5
11-46565589-A-G p.Leu185Pro missense+splice_region AMBRA1 1 83000 1.20482E-5 41500 0 NA
11-46567146-G-A c.551+8C>T splice_region AMBRA1 1 82790 1.20788E-5 41395 0 9.56206E-5
11-46567159-C-A p.Arg182Arg synonymous AMBRA1 1 83040 1.20424E-5 41520 0 NA
11-46567166-A-G p.Met180Thr missense AMBRA1 1 83176 1.20227E-5 41588 0 NA
11-46567225-G-T p.Ile160Ile synonymous AMBRA1 2 83306 2.40079E-5 41653 0 2.38599E-5
11-46567225-G-A p.Ile160Ile synonymous AMBRA1 1 83306 1.20039E-5 41653 0 1.19299E-5
11-46567231-A-G p.Asn158Asn synonymous AMBRA1 10 83318 1.20022E-4 41659 0 3.50497E-4
11-46567232-T-C p.Asn158Ser missense AMBRA1 7 83314 8.40195E-5 41657 0 0.00100705
11-46567233-T-C p.Asn158Asp missense AMBRA1 1 83310 1.20034E-5 41655 0 3.29571E-5
11-46567262-G-A p.Thr148Met missense AMBRA1 3 83276 3.60248E-5 41638 0 3.57953E-5
11-46567265-G-C p.Pro147Arg missense AMBRA1 1 83274 1.20085E-5 41637 0 8.24212E-6
11-46567282-G-A p.Ala141Ala synonymous AMBRA1 1 83254 1.20114E-5 41627 0 NA
11-46567283-G-A p.Ala141Val missense AMBRA1 2 83250 2.4024E-5 41625 0 NA
11-46567291-A-G p.Asn138Asn synonymous AMBRA1 1 83228 1.20152E-5 41614 0 8.253E-6
11-46567294-G-A p.Asn137Asn synonymous AMBRA1 2 83222 2.40321E-5 41611 0 3.97893E-6
11-46567297-G-A p.Ser136Ser synonymous AMBRA1 1 83194 1.20201E-5 41597 0 NA
11-46568583-T-G n.380+8A>C splice_region AMBRA1 2 74116 2.69847E-5 37058 0 NA
11-46568663-G-A p.His126His splice_region+synonymous AMBRA1 1 82246 1.21586E-5 41123 0 6.38081E-5
11-46568754-C-T p.Arg96His missense AMBRA1 2 82874 2.4133E-5 41437 0 NA
11-46568765-A-C p.Ile92Met missense AMBRA1 1 82752 1.20843E-5 41376 0 NA
11-46568768-C-T p.Leu91Leu synonymous AMBRA1 2 82728 2.41756E-5 41364 0 NA
11-46568780-A-G p.Cys87Cys synonymous AMBRA1 1 82506 1.21203E-5 41253 0 1.19597E-5
11-46568783-C-T p.Lys86Lys synonymous AMBRA1 2 82442 2.42595E-5 41221 0 NA
11-46568802-G-A p.Thr80Met missense AMBRA1 1 81986 1.21972E-5 40993 0 7.9952E-6
11-46568808-T-C p.Tyr78Cys missense AMBRA1 10 81840 1.2219E-4 40920 0 3.07243E-4
11-46568833-A-T p.Ser70Thr missense AMBRA1 15 81292 1.8452E-4 40646 0 NA
11-46568840-G-A p.Leu67Leu synonymous AMBRA1 196 81230 0.0024129 40615 1 0.00640413
11-46568848-T-TGTCTGGGCTGAAGGCCAATAAGAAGGTAGAGCGTGGACTATCCGGC c.195-3_195-2insGCCGGATAGTCCACGCTCTACCTTCTTATTGGCCTTCAGCCCAGAC splice_region AMBRA1 2 81040 2.46792E-5 40520 1 NA
11-46568850-G-C c.195-4C>G splice_region AMBRA1 2 80994 2.46932E-5 40497 0 NA
11-46569360-T-G c.194+7A>C splice_region AMBRA1 1 82796 1.20779E-5 41398 0 NA
11-46569369-G-A p.Asp64Asp splice_region+synonymous AMBRA1 1 82876 1.20662E-5 41438 0 NA
11-46569376-C-T p.Ser62Asn missense AMBRA1 1 82878 1.20659E-5 41439 0 NA
11-46569393-G-A p.Thr56Thr synonymous AMBRA1 2 82860 2.41371E-5 41430 0 NA
11-46569411-C-T p.Pro50Pro synonymous AMBRA1 3 82660 3.62932E-5 41330 0 3.23164E-5
11-46569412-G-A p.Pro50Leu missense AMBRA1 1 82670 1.20963E-5 41335 0 3.21543E-5
11-46569431-AG-A c.136-7delC splice_region AMBRA1 1 82134 1.21752E-5 41067 0 3.6762E-5
11-46569432-G-GA c.136-8_136-7insT splice_region AMBRA1 3 81980 3.65943E-5 40990 0 2.95203E-4
11-46569432-G-A c.136-7C>T splice_region AMBRA1 1 81908 1.22088E-5 40954 0 6.08585E-4
11-46569797-T-C p.Lys45Arg missense+splice_region AMBRA1 1 83248 1.20123E-5 41624 0 NA
11-46569799-G-C p.Gly44Gly synonymous AMBRA1 8 83256 9.60892E-5 41628 0 NA
11-46569808-T-C p.Lys41Lys synonymous AMBRA1 11 83278 1.32088E-4 41639 0 6.25E-4
11-46569818-C-T p.Arg38Gln missense AMBRA1 1 83294 1.20057E-5 41647 0 8.28185E-6
11-46569838-C-G p.Glu31Asp missense AMBRA1 1 83330 1.20005E-5 41665 0 NA
11-46569843-G-C p.Gln30Glu missense AMBRA1 1 83342 1.19988E-5 41671 0 1.6527E-5
11-46569851-C-T p.Arg27Gln missense AMBRA1 3 83348 3.59937E-5 41674 0 6.36983E-5
11-46569852-G-A p.Arg27Trp missense AMBRA1 1 83340 1.1999E-5 41670 0 1.65041E-5
11-46569864-T-C p.Met23Val missense AMBRA1 1 83340 1.1999E-5 41670 0 7.95393E-6
11-46569879-G-A p.Arg18Trp missense AMBRA1 7 83306 8.40276E-5 41653 0 4.94641E-5
11-46569887-C-T p.Gly15Glu missense AMBRA1 1 83264 1.201E-5 41632 0 1.64883E-5
11-46569892-G-C p.Leu13Leu synonymous AMBRA1 4 83260 4.80423E-5 41630 0 1.07192E-4
11-46569912-T-G p.Lys7Gln missense AMBRA1 1 83142 1.20276E-5 41571 0 NA
11-46569940-T-C c.-10A>G 5_prime_UTR_premature_start_codon_gain AMBRA1 2 82908 2.41231E-5 41454 0 NA
11-46570005-C-T c.-74-1G>A splice_acceptor AMBRA1 7 81408 8.59866E-5 40704 0 9.55292E-5
11-46570052-T-TGCAAGGCAGACGGGAGCTCGGTTTGCAGTCCAGCGAACGGGC c.-120-3_-120-2insGCCCGTTCGCTGGACTGCAAACCGAGCTCCCGTCTGCCTTGC splice_region AMBRA1 2 76532 2.61329E-5 38266 1 NA
11-46570052-T-TGCAAGGCAGACGGGAGC c.-120-3_-120-2insGCTCCCGTCTGCCTTGC splice_region AMBRA1 3 76534 3.91983E-5 38267 1 NA
11-46570052-T-TG c.-120-3_-120-2insC splice_region AMBRA1 1 76534 1.30661E-5 38267 0 NA