Gene Name | HGNC ID | COSMIC_MutID | Primary site | Primary histology | AA-Mutation | Mutation Type | Genomic Position | FATHMM prediction | FATHMM score![]() | Literature evidence |
BRCA1 | 1100 | COSM6937357, | lung | carcinoma | p.Q780E | Substitution - Missense | 17:43093193-43093193, | PATHOGENIC | 0.99155 | 28481359 |
BRCA1 | 1100 | COSM6965065, | soft_tissue | angiosarcoma | p.S1292A | Substitution - Missense | 17:43091657-43091657, | PATHOGENIC | 0.98619 | 28481359 |
BRCA1 | 1100 | COSM6952377, | large_intestine | carcinoma | p.S1292Y | Substitution - Missense | 17:43091656-43091656, | PATHOGENIC | 0.98018 | 28481359 |
BRCA1 | 1100 | COSM6924781, | breast | carcinoma | p.Q1395E | Substitution - Missense | 17:43090946-43090946, | PATHOGENIC | 0.97878 | 28481359 |
BRCA1 | 1100 | COSM6914629, | lung | carcinoma | p.E648Q | Substitution - Missense | 17:43093589-43093589, | PATHOGENIC | 0.9775 | 28481359 |
BRCA1 | 1100 | COSM6923548, | urinary_tract | carcinoma | p.S1292F | Substitution - Missense | 17:43091656-43091656, | PATHOGENIC | 0.97675 | 28481359 |
BRCA1 | 1100 | COSM6931524, | breast | carcinoma | p.E648* | Substitution - Nonsense | 17:43093589-43093589, | PATHOGENIC | 0.97631 | 28481359 |
BRCA1 | 1100 | COSM6927029, | large_intestine | carcinoma | p.T77M | Substitution - Missense | 17:43104939-43104939, | PATHOGENIC | 0.97585 | 28481359 |
BRCA1 | 1100 | COSM6947416, | soft_tissue | malignant_peripheral_nerve_sheath_tumour | p.E1419G | Substitution - Missense | 17:43082505-43082505, | PATHOGENIC | 0.97494 | 28481359 |
BRCA1 | 1100 | COSM6983533, | skin | malignant_melanoma | p.P62L | Substitution - Missense | 17:43106483-43106483, | PATHOGENIC | 0.97408 | 28481359 |
BRCA1 | 1100 | COSM6971902, | endometrium | carcinoma | p.V1713A | Substitution - Missense | 17:43063888-43063888, | PATHOGENIC | 0.97372 | 28481359 |
BRCA1 | 1100 | COSM6981753, | pancreas | carcinoma | p.Q1388* | Substitution - Nonsense | 17:43090967-43090967, | PATHOGENIC | 0.97357 | 28481359 |
BRCA1 | 1100 | COSM35895, | breast | carcinoma | p.? | Unknown | 17:43057051-43057051, | PATHOGENIC | 0.97246 | 19593635 |
BRCA1 | 1100 | COSM6910109, | soft_tissue | leiomyosarcoma | p.L1365F | Substitution - Missense | 17:43091436-43091436, | PATHOGENIC | 0.97227 | 28481359 |
BRCA1 | 1100 | COSM5575478, | ovary | carcinoma | p.E384V | Substitution - Missense | 17:43094380-43094380, | PATHOGENIC | 0.97156 | 25846551 |
BRCA1 | 1100 | COSM5575478, | ovary | carcinoma | p.E384V | Substitution - Missense | 17:43094380-43094380, | PATHOGENIC | 0.97156 | 25846551 |
BRCA1 | 1100 | COSM6943403, | urinary_tract | carcinoma | p.E648K | Substitution - Missense | 17:43093589-43093589, | PATHOGENIC | 0.97155 | 28481359 |
BRCA1 | 1100 | COSM6969903, | lung | carcinoma | p.E848* | Substitution - Nonsense | 17:43092989-43092989, | PATHOGENIC | 0.969 | 28481359 |
BRCA1 | 1100 | COSM6976891, | central_nervous_system | glioma | p.E1214K | Substitution - Missense | 17:43091891-43091891, | PATHOGENIC | 0.96861 | 28481359 |
BRCA1 | 1100 | COSM6922027, | endometrium | carcinoma | p.? | Unknown | 17:43104957-43104957, | PATHOGENIC | 0.96851 | 28481359 |
BRCA1 | 1100 | COSM6922027, | prostate | carcinoma | p.? | Unknown | 17:43104957-43104957, | PATHOGENIC | 0.96851 | 28481359 |
BRCA1 | 1100 | COSM6931077, | urinary_tract | carcinoma | p.E649Q | Substitution - Missense | 17:43093586-43093586, | PATHOGENIC | 0.96851 | 28481359 |
BRCA1 | 1100 | COSM6940248, | breast | carcinoma | p.Q81E | Substitution - Missense | 17:43104928-43104928, | PATHOGENIC | 0.96668 | 28481359 |
BRCA1 | 1100 | COSM6955977, | lung | carcinoma | p.A1708E | Substitution - Missense | 17:43063903-43063903, | PATHOGENIC | 0.96498 | 28481359 |
BRCA1 | 1100 | COSM5414819, | lung | carcinoma | p.R71K | Substitution - Missense | 17:43106456-43106456, | PATHOGENIC | 0.96417 | 29420467 |
BRCA1 | 1100 | COSM5575278, | ovary | carcinoma | p.S198N | Substitution - Missense | 17:43097244-43097244, | PATHOGENIC | 0.96214 | 25846551 |
BRCA1 | 1100 | COSM5575278, | ovary | carcinoma | p.S198N | Substitution - Missense | 17:43097244-43097244, | PATHOGENIC | 0.96214 | 25846551 |
BRCA1 | 1100 | COSM5575278, | ovary | carcinoma | p.S198N | Substitution - Missense | 17:43097244-43097244, | PATHOGENIC | 0.96214 | 25846551 |
BRCA1 | 1100 | COSM5575278, | ovary | carcinoma | p.S198N | Substitution - Missense | 17:43097244-43097244, | PATHOGENIC | 0.96214 | 25846551 |
BRCA1 | 1100 | COSM5575278, | ovary | carcinoma | p.S198N | Substitution - Missense | 17:43097244-43097244, | PATHOGENIC | 0.96214 | 25846551 |
BRCA1 | 1100 | COSM5575278, | ovary | carcinoma | p.S198N | Substitution - Missense | 17:43097244-43097244, | PATHOGENIC | 0.96214 | 25846551 |
BRCA1 | 1100 | COSM5575278, | ovary | carcinoma | p.S198N | Substitution - Missense | 17:43097244-43097244, | PATHOGENIC | 0.96214 | 25846551 |
BRCA1 | 1100 | COSM5575278, | ovary | carcinoma | p.S198N | Substitution - Missense | 17:43097244-43097244, | PATHOGENIC | 0.96214 | 25846551 |
BRCA1 | 1100 | COSM6948017, | large_intestine | carcinoma | p.V1653A | Substitution - Missense | 17:43070956-43070956, | PATHOGENIC | 0.95704 | 28481359 |
BRCA1 | 1100 | COSM6916176, | ovary | carcinoma | p.A1708P | Substitution - Missense | 17:43063904-43063904, | PATHOGENIC | 0.95329 | 28481359 |
BRCA1 | 1100 | COSM6918021, | upper_aerodigestive_tract | carcinoma | p.Q380E | Substitution - Missense | 17:43094393-43094393, | PATHOGENIC | 0.95087 | 28481359 |
BRCA1 | 1100 | COSM5607948, | skin | malignant_melanoma | p.W1718L | Substitution - Missense | 17:43063373-43063373, | PATHOGENIC | 0.94897 | 26343386 |
BRCA1 | 1100 | COSM6940664, | skin | malignant_melanoma | p.G1743V | Substitution - Missense | 17:43057101-43057101, | PATHOGENIC | 0.94769 | 28481359 |
BRCA1 | 1100 | COSM5575521, | large_intestine | carcinoma | p.K1208T | Substitution - Missense | 17:43091908-43091908, | PATHOGENIC | 0.94583 | 28481359 |
BRCA1 | 1100 | COSM5575521, | ovary | carcinoma | p.K1208T | Substitution - Missense | 17:43091908-43091908, | PATHOGENIC | 0.94583 | 25846551 |
BRCA1 | 1100 | COSM6956683, | soft_tissue | fibrosarcoma | p.H1686Y | Substitution - Missense | 17:43067626-43067626, | PATHOGENIC | 0.94419 | 28481359 |
BRCA1 | 1100 | COSM6942615, | oesophagus | carcinoma | p.A1708T | Substitution - Missense | 17:43063904-43063904, | PATHOGENIC | 0.9395 | 28481359 |
BRCA1 | 1100 | COSM6976505, | large_intestine | carcinoma | p.? | Unknown | 17:43067696-43067696, | PATHOGENIC | 0.93816 | 28481359 |
BRCA1 | 1100 | COSM5575301, | ovary | carcinoma | p.K50R | Substitution - Missense | 17:43106519-43106519, | PATHOGENIC | 0.9377 | 25846551 |
BRCA1 | 1100 | COSM4991001, | skin | carcinoma | p.P1192L | Substitution - Missense | 17:43091956-43091956, | PATHOGENIC | 0.93523 | 25589618 |
BRCA1 | 1100 | COSM7325203, | biliary_tract | carcinoma | p.? | Unknown | 17:43104262-43104262, | PATHOGENIC | 0.93473 | 29360550 |
BRCA1 | 1100 | COSM6933874, | lung | carcinoma | p.R1751L | Substitution - Missense | 17:43057077-43057077, | PATHOGENIC | 0.9279 | 28481359 |
BRCA1 | 1100 | COSM6940192, | lung | carcinoma | p.Q1388H | Substitution - Missense | 17:43090965-43090965, | PATHOGENIC | 0.92754 | 28481359 |
BRCA1 | 1100 | COSM6922162, | lung | carcinoma | p.S267L | Substitution - Missense | 17:43094731-43094731, | PATHOGENIC | 0.9253 | 28481359 |
BRCA1 | 1100 | COSM6907122, | urinary_tract | carcinoma | p.S1387F | Substitution - Missense | 17:43090969-43090969, | PATHOGENIC | 0.92294 | 29420467 |
BRCA1 | 1100 | COSM6957807, | large_intestine | carcinoma | p.P115R | Substitution - Missense | 17:43104219-43104219, | PATHOGENIC | 0.92236 | 28481359 |
BRCA1 | 1100 | COSM6923811, | lung | carcinoma | p.D642H | Substitution - Missense | 17:43093607-43093607, | PATHOGENIC | 0.92177 | 28481359 |
BRCA1 | 1100 | COSM6928132, | urinary_tract | carcinoma | p.S426L | Substitution - Missense | 17:43094254-43094254, | PATHOGENIC | 0.91859 | 28481359 |
BRCA1 | 1100 | COSM6965063, | soft_tissue | angiosarcoma | p.E1358K | Substitution - Missense | 17:43091459-43091459, | PATHOGENIC | 0.91757 | 28481359 |
BRCA1 | 1100 | COSM5575488, | ovary | carcinoma | p.T775N | Substitution - Missense | 17:43093207-43093207, | PATHOGENIC | 0.91457 | 25846551 |
BRCA1 | 1100 | COSM6973588, | skin | malignant_melanoma | p.Q1408* | Substitution - Nonsense | 17:43082539-43082539, | PATHOGENIC | 0.91261 | 28481359 |
BRCA1 | 1100 | COSM6928112, | urinary_tract | carcinoma | p.E1836K | Substitution - Missense | 17:43045764-43045764, | PATHOGENIC | 0.91246 | 28481359 |
BRCA1 | 1100 | COSM6969336, | oesophagus | carcinoma | p.P115L | Substitution - Missense | 17:43104219-43104219, | PATHOGENIC | 0.91236 | 28481359 |
BRCA1 | 1100 | COSM6923800, | cervix | carcinoma | p.D120A | Substitution - Missense | 17:43104204-43104204, | PATHOGENIC | 0.90884 | 28481359 |
BRCA1 | 1100 | COSM24520, | ovary | carcinoma | p.? | Unknown | 17:43051118-43051118, | PATHOGENIC | 0.90693 | 11240689 |
BRCA1 | 1100 | COSM6984612, | endometrium | carcinoma | p.D1152N | Substitution - Missense | 17:43092077-43092077, | PATHOGENIC | 0.90603 | 28481359 |
BRCA1 | 1100 | COSM6962657, | bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | p.? | Unknown | 17:43071239-43071239, | PATHOGENIC | 0.90526 | 28481359 |
BRCA1 | 1100 | COSM6944673, | soft_tissue | malignant_fibrous_histiocytoma-pleomorphic_sarcoma | p.? | Unknown | 17:43099773-43099773, | PATHOGENIC | 0.90469 | 28481359 |
BRCA1 | 1100 | COSM6995429, | ovary | germ_cell_tumour | p.L52V | Substitution - Missense | 17:43106514-43106514, | PATHOGENIC | 0.90353 | 28954785 |
BRCA1 | 1100 | COSM6995429, | ovary | germ_cell_tumour | p.L52V | Substitution - Missense | 17:43106514-43106514, | PATHOGENIC | 0.90353 | 28954785 |
BRCA1 | 1100 | COSM5020686, | soft_tissue | haemangioblastoma | p.Y179H | Substitution - Missense | 17:43099787-43099787, | PATHOGENIC | 0.90279 | 25589003 |
BRCA1 | 1100 | COSM5464046, | thyroid | carcinoma | p.R1751Q | Substitution - Missense | 17:43057077-43057077, | PATHOGENIC | 0.90094 | 28481359 |
BRCA1 | 1100 | COSM3755569, | soft_tissue | haemangioblastoma | p.Q356R | Substitution - Missense | 17:43094464-43094464, | PATHOGENIC | 0.89866 | 25589003 |
BRCA1 | 1100 | COSM3755569, | breast | carcinoma | p.Q356R | Substitution - Missense | 17:43094464-43094464, | PATHOGENIC | 0.89866 | 24185512 |
BRCA1 | 1100 | COSM3755569, | breast | carcinoma | p.Q356R | Substitution - Missense | 17:43094464-43094464, | PATHOGENIC | 0.89866 | 24185512 |
BRCA1 | 1100 | COSM3755569, | soft_tissue | haemangioblastoma | p.Q356R | Substitution - Missense | 17:43094464-43094464, | PATHOGENIC | 0.89866 | 25589003 |
BRCA1 | 1100 | COSM6936779, | prostate | carcinoma | p.D40N | Substitution - Missense | 17:43115742-43115742, | PATHOGENIC | 0.89461 | 28481359 |
BRCA1 | 1100 | COSM6913507, | skin | carcinoma | p.L182S | Substitution - Missense | 17:43099777-43099777, | PATHOGENIC | 0.8938 | 28481359 |
BRCA1 | 1100 | COSM6948729, | skin | malignant_melanoma | p.P1562L | Substitution - Missense | 17:43071229-43071229, | PATHOGENIC | 0.89079 | 28481359 |
BRCA1 | 1100 | COSM5607958, | skin | malignant_melanoma | p.P871S | Substitution - Missense | 17:43092920-43092920, | PATHOGENIC | 0.89052 | 26343386 |
BRCA1 | 1100 | COSM24528, | ovary | carcinoma | p.E1725* | Substitution - Nonsense | 17:43063353-43063353, | PATHOGENIC | 0.8901 | 7795652 |
BRCA1 | 1100 | COSM6918841, | thyroid | carcinoma | p.L1705V | Substitution - Missense | 17:43063913-43063913, | PATHOGENIC | 0.88706 | 28481359 |
BRCA1 | 1100 | COSM6965969, | skin | malignant_melanoma | p.E1725K | Substitution - Missense | 17:43063353-43063353, | PATHOGENIC | 0.88203 | 28481359 |
BRCA1 | 1100 | COSM6981150, | lung | carcinoma | p.N1742I | Substitution - Missense | 17:43057104-43057104, | PATHOGENIC | 0.87726 | 28481359 |
BRCA1 | 1100 | COSM6932042, | central_nervous_system | glioma | p.V1654M | Substitution - Missense | 17:43070954-43070954, | PATHOGENIC | 0.87708 | 28481359 |
BRCA1 | 1100 | COSM7325210, | biliary_tract | carcinoma | p.Q563K | Substitution - Missense | 17:43093844-43093844, | PATHOGENIC | 0.87232 | 29360550 |
BRCA1 | 1100 | COSM6984164, | urinary_tract | carcinoma | p.Q544* | Substitution - Nonsense | 17:43093901-43093901, | PATHOGENIC | 0.87201 | 28481359 |
BRCA1 | 1100 | COSM6986492, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.Y179C | Substitution - Missense | 17:43099786-43099786, | PATHOGENIC | 0.86183 | 28481359 |
BRCA1 | 1100 | COSM6924394, | urinary_tract | carcinoma | p.E1754Q | Substitution - Missense | 17:43057069-43057069, | PATHOGENIC | 0.85311 | 28481359 |
BRCA1 | 1100 | COSM6954055, | skin | malignant_melanoma | p.E1754K | Substitution - Missense | 17:43057069-43057069, | PATHOGENIC | 0.85201 | 28481359 |
BRCA1 | 1100 | COSM6940458, | urinary_tract | carcinoma | p.E1060D | Substitution - Missense | 17:43092351-43092351, | PATHOGENIC | 0.85033 | 28481359 |
BRCA1 | 1100 | COSM6950033, | NS | carcinoma | p.G1567* | Substitution - Nonsense | 17:43071215-43071215, | PATHOGENIC | 0.84888 | 28481359 |
BRCA1 | 1100 | COSM5575372, | ovary | carcinoma | p.D1343E | Substitution - Missense | 17:43091502-43091502, | PATHOGENIC | 0.84373 | 25846551 |
BRCA1 | 1100 | COSM6930929, | ovary | carcinoma | p.E1167* | Substitution - Nonsense | 17:43092032-43092032, | PATHOGENIC | 0.83007 | 28481359 |
BRCA1 | 1100 | COSM6936547, | urinary_tract | carcinoma | p.E1817K | Substitution - Missense | 17:43047661-43047661, | PATHOGENIC | 0.82962 | 28481359 |
BRCA1 | 1100 | COSM6934977, | upper_aerodigestive_tract | carcinoma | p.C24F | Substitution - Missense | 17:43124026-43124026, | PATHOGENIC | 0.82648 | 28481359 |
BRCA1 | 1100 | COSM3734724, | ovary | carcinoma | p.? | Unknown | 17:43124016-43124016, | PATHOGENIC | 0.82613 | 9796975 |
BRCA1 | 1100 | COSM93980, | lung | carcinoma | p.M297V | Substitution - Missense | 17:43094642-43094642, | PATHOGENIC | 0.82368 | 20668451 |
BRCA1 | 1100 | COSM6918178, | lung | carcinoma | p.E1053K | Substitution - Missense | 17:43092374-43092374, | PATHOGENIC | 0.81523 | 28481359 |
BRCA1 | 1100 | COSM6934372, | lung | carcinoma | p.L512F | Substitution - Missense | 17:43093997-43093997, | PATHOGENIC | 0.81139 | 28481359 |
BRCA1 | 1100 | COSM6934372, | oesophagus | carcinoma | p.L512F | Substitution - Missense | 17:43093997-43093997, | PATHOGENIC | 0.81139 | 28481359 |
BRCA1 | 1100 | COSM4991003, | skin | carcinoma | p.P1192S | Substitution - Missense | 17:43091957-43091957, | PATHOGENIC | 0.81102 | 25589618 |
BRCA1 | 1100 | COSM4985686, | soft_tissue | haemangioblastoma | p.M1652I | Substitution - Missense | 17:43070958-43070958, | PATHOGENIC | 0.80959 | 25589003 |
BRCA1 | 1100 | COSM6929869, | lung | carcinoma | p.L283V | Substitution - Missense | 17:43094684-43094684, | PATHOGENIC | 0.80633 | 28481359 |
BRCA1 | 1100 | COSM5575464, | ovary | carcinoma | p.H41Q | Substitution - Missense | 17:43115737-43115737, | PATHOGENIC | 0.8053 | 25846551 |
BRCA1 | 1100 | COSM5020112, | soft_tissue | haemangioblastoma | p.C197C | Substitution - coding silent | 17:43097246-43097246, | PATHOGENIC | 0.80468 | 25589003 |
BRCA1 | 1100 | COSM6935538, | endometrium | carcinoma | p.S265Y | Substitution - Missense | 17:43094737-43094737, | PATHOGENIC | 0.80409 | 28481359 |
BRCA1 | 1100 | COSM1577248, | ovary | carcinoma | p.E1794* | Substitution - Nonsense | 17:43049147-43049147, | PATHOGENIC | 0.80016 | 23633455 |
BRCA1 | 1100 | COSM6927705, | breast | carcinoma | p.I373L | Substitution - Missense | 17:43094414-43094414, | PATHOGENIC | 0.79956 | 28481359 |
BRCA1 | 1100 | COSM5025050, | breast | carcinoma | p.L30F | Substitution - Missense | 17:43115770-43115770, | PATHOGENIC | 0.79226 | 25850943 |
BRCA1 | 1100 | COSM6908861, | stomach | carcinoma | p.K1793N | Substitution - Missense | 17:43049148-43049148, | PATHOGENIC | 0.79166 | 28481359 |
BRCA1 | 1100 | COSM6962603, | skin | carcinoma | p.Q317* | Substitution - Nonsense | 17:43094582-43094582, | PATHOGENIC | 0.78613 | 28481359 |
BRCA1 | 1100 | COSM23958, | breast | carcinoma | p.W372* | Substitution - Nonsense | 17:43094415-43094415, | PATHOGENIC | 0.78292 | 15712267 |
BRCA1 | 1100 | COSM23933, | ovary | carcinoma | p.S1009* | Substitution - Nonsense | 17:43092505-43092505, | PATHOGENIC | 0.78281 | 10467410 |
BRCA1 | 1100 | COSM13841, | breast | carcinoma | p.L30F | Substitution - Missense | 17:43115770-43115770, | PATHOGENIC | 0.77986 | 16959974 |
BRCA1 | 1100 | COSM5575468, | ovary | carcinoma | p.L147M | Substitution - Missense | 17:43104124-43104124, | PATHOGENIC | 0.77925 | 25846551 |
BRCA1 | 1100 | COSM5575267, | ovary | carcinoma | p.A1823S | Substitution - Missense | 17:43047643-43047643, | PATHOGENIC | 0.76815 | 25846551 |
BRCA1 | 1100 | COSM6974518, | breast | carcinoma | p.K1724* | Substitution - Nonsense | 17:43063356-43063356, | PATHOGENIC | 0.76598 | 28481359 |
BRCA1 | 1100 | COSM6506421, | breast | carcinoma | p.E1419* | Substitution - Nonsense | 17:43082506-43082506, | PATHOGENIC | 0.75857 | 26011570 |
BRCA1 | 1100 | COSM6956872, | oesophagus | carcinoma | p.E1683D | Substitution - Missense | 17:43067633-43067633, | PATHOGENIC | 0.75746 | 28481359 |
BRCA1 | 1100 | COSM6956872, | stomach | carcinoma | p.E1683D | Substitution - Missense | 17:43067633-43067633, | PATHOGENIC | 0.75746 | 28481359 |
BRCA1 | 1100 | COSM6923475, | lung | carcinoma | p.Q1356E | Substitution - Missense | 17:43091465-43091465, | PATHOGENIC | 0.75042 | 28481359 |
BRCA1 | 1100 | COSM6995494, | ovary | germ_cell_tumour | p.L1844L | Substitution - coding silent | 17:43045738-43045738, | PATHOGENIC | 0.74374 | 28954785 |
BRCA1 | 1100 | COSM6937197, | skin | carcinoma | p.A224S | Substitution - Missense | 17:43095846-43095846, | PATHOGENIC | 0.74188 | 28481359 |
BRCA1 | 1100 | COSM6933613, | urinary_tract | carcinoma | p.R1726T | Substitution - Missense | 17:43063349-43063349, | PATHOGENIC | 0.73959 | 28481359 |
BRCA1 | 1100 | COSM6980843, | endometrium | carcinoma | p.Q1848R | Substitution - Missense | 17:43045727-43045727, | PATHOGENIC | 0.73275 | 28481359 |
BRCA1 | 1100 | COSM6978590, | breast | carcinoma | p.Y101N | Substitution - Missense | 17:43104868-43104868, | PATHOGENIC | 0.7194 | 28481359 |
BRCA1 | 1100 | COSM48262, | lung | carcinoma | p.G1077W | Substitution - Missense | 17:43092302-43092302, | PATHOGENIC | 0.70213 | 18948947 |
BRCA1 | 1100 | COSM6949403, | breast | carcinoma | p.E1066K | Substitution - Missense | 17:43092335-43092335, | PATHOGENIC | 0.70157 | 28481359 |
BRCA1 | 1100 | COSM5575370, | ovary | carcinoma | p.? | Unknown | 17:43074525-43074525, | NEUTRAL | 0.48555 | 25846551 |
BRCA1 | 1100 | COSM6936279, | lung | carcinoma | p.S889C | Substitution - Missense | 17:43092865-43092865, | NEUTRAL | 0.48468 | 28481359 |
BRCA1 | 1100 | COSM6923992, | central_nervous_system | glioma | p.D430N | Substitution - Missense | 17:43094243-43094243, | NEUTRAL | 0.47513 | 28481359 |
BRCA1 | 1100 | COSM6958307, | skin | malignant_melanoma | p.E1373K | Substitution - Missense | 17:43091012-43091012, | NEUTRAL | 0.46226 | 28481359 |
BRCA1 | 1100 | COSM6921165, | skin | malignant_melanoma | p.D1757E | Substitution - Missense | 17:43057058-43057058, | NEUTRAL | 0.41153 | 28481359 |
BRCA1 | 1100 | COSM6960734, | skin | malignant_melanoma | p.E638D | Substitution - Missense | 17:43093617-43093617, | NEUTRAL | 0.4038 | 28481359 |
BRCA1 | 1100 | COSM3190097, | oesophagus | carcinoma | p.K604E | Substitution - Missense | 17:43093721-43093721, | NEUTRAL | 0.39925 | 24686850 |
BRCA1 | 1100 | COSM6906937, | urinary_tract | carcinoma | p.S1551C | Substitution - Missense | 17:43074354-43074354, | NEUTRAL | 0.38037 | 28481359 |
BRCA1 | 1100 | COSM6906937, | urinary_tract | carcinoma | p.S1551C | Substitution - Missense | 17:43074354-43074354, | NEUTRAL | 0.38037 | 29420467 |
BRCA1 | 1100 | COSM6906937, | lung | carcinoma | p.S1551C | Substitution - Missense | 17:43074354-43074354, | NEUTRAL | 0.38037 | 28481359 |
BRCA1 | 1100 | COSM6950330, | NS | carcinoma | p.D1813N | Substitution - Missense | 17:43047673-43047673, | NEUTRAL | 0.37931 | 28481359 |
BRCA1 | 1100 | COSM5009696, | large_intestine | carcinoma | p.E1092V | Substitution - Missense | 17:43092256-43092256, | NEUTRAL | 0.33442 | 24951259 |
BRCA1 | 1100 | COSM95782, | breast | carcinoma | p.L1335L | Substitution - coding silent | 17:43091526-43091526, | NEUTRAL | 0.33111 | 20668451 |
BRCA1 | 1100 | COSM6911599, | large_intestine | carcinoma | p.T710I | Substitution - Missense | 17:43093402-43093402, | NEUTRAL | 0.32395 | 28481359 |
BRCA1 | 1100 | COSM6911599, | large_intestine | carcinoma | p.T710I | Substitution - Missense | 17:43093402-43093402, | NEUTRAL | 0.32395 | 28481359 |
BRCA1 | 1100 | COSM6919337, | large_intestine | carcinoma | p.K520N | Substitution - Missense | 17:43093971-43093971, | NEUTRAL | 0.32139 | 28481359 |
BRCA1 | 1100 | COSM6951927, | salivary_gland | carcinoma | p.T1720I | Substitution - Missense | 17:43063367-43063367, | NEUTRAL | 0.32096 | 28481359 |
BRCA1 | 1100 | COSM6950246, | central_nervous_system | glioma | p.E111K | Substitution - Missense | 17:43104232-43104232, | NEUTRAL | 0.30968 | 28481359 |
BRCA1 | 1100 | COSM5575376, | ovary | carcinoma | p.N916I | Substitution - Missense | 17:43092784-43092784, | NEUTRAL | 0.30792 | 25846551 |
BRCA1 | 1100 | COSM6937983, | urinary_tract | carcinoma | p.N113K | Substitution - Missense | 17:43104224-43104224, | NEUTRAL | 0.30662 | 28481359 |
BRCA1 | 1100 | COSM5031244, | urinary_tract | carcinoma | p.E597K | Substitution - Missense | 17:43093742-43093742, | NEUTRAL | 0.30546 | 28481359 |
BRCA1 | 1100 | COSM5031244, | urinary_tract | carcinoma | p.E597K | Substitution - Missense | 17:43093742-43093742, | NEUTRAL | 0.30546 | 28481359 |
BRCA1 | 1100 | COSM93978, | lung | carcinoma | p.Q687P | Substitution - Missense | 17:43093471-43093471, | NEUTRAL | 0.30155 | 20668451 |
BRCA1 | 1100 | COSM5731630, | NS | malignant_melanoma | p.N630H | Substitution - Missense | 17:43093643-43093643, | NEUTRAL | 0.29674 | 25886620 |
BRCA1 | 1100 | COSM133663, | breast | carcinoma | p.S988* | Substitution - Nonsense | 17:43092568-43092568, | NEUTRAL | 0.29302 | 22116506 |
BRCA1 | 1100 | COSM6964074, | lung | carcinoma | p.P1659L | Substitution - Missense | 17:43070938-43070938, | NEUTRAL | 0.29206 | 28481359 |
BRCA1 | 1100 | COSM6933055, | urinary_tract | carcinoma | p.S1320C | Substitution - Missense | 17:43091572-43091572, | NEUTRAL | 0.2791 | 28481359 |
BRCA1 | 1100 | COSM5575338, | ovary | carcinoma | p.N113S | Substitution - Missense | 17:43104225-43104225, | NEUTRAL | 0.27554 | 25846551 |
BRCA1 | 1100 | COSM5575434, | salivary_gland | carcinoma | p.E842* | Substitution - Nonsense | 17:43093007-43093007, | NEUTRAL | 0.2739 | 27334835 |
BRCA1 | 1100 | COSM5575434, | ovary | carcinoma | p.E842* | Substitution - Nonsense | 17:43093007-43093007, | NEUTRAL | 0.2739 | 25846551 |
BRCA1 | 1100 | COSM5020169, | soft_tissue | haemangioblastoma | p.K1109N | Substitution - Missense | 17:43092204-43092204, | NEUTRAL | 0.2694 | 25589003 |
BRCA1 | 1100 | COSM6959703, | lung | carcinoma | p.T1310S | Substitution - Missense | 17:43091603-43091603, | NEUTRAL | 0.26023 | 28481359 |
BRCA1 | 1100 | COSM6943401, | urinary_tract | carcinoma | p.E649D | Substitution - Missense | 17:43093584-43093584, | NEUTRAL | 0.26023 | 28481359 |
BRCA1 | 1100 | COSM6969846, | lung | carcinoma | p.E362G | Substitution - Missense | 17:43094446-43094446, | NEUTRAL | 0.2586 | 28481359 |
BRCA1 | 1100 | COSM979730, | salivary_gland | carcinoma | p.R1443* | Substitution - Nonsense | 17:43082434-43082434, | NEUTRAL | 0.24687 | 27334835 |
BRCA1 | 1100 | COSM6941397, | large_intestine | carcinoma | p.A1615V | Substitution - Missense | 17:43071070-43071070, | NEUTRAL | 0.24276 | 28481359 |
BRCA1 | 1100 | COSM6947316, | lung | carcinoma | p.E904* | Substitution - Nonsense | 17:43092821-43092821, | NEUTRAL | 0.23506 | 28481359 |
BRCA1 | 1100 | COSM7325182, | biliary_tract | carcinoma | p.E1107* | Substitution - Nonsense | 17:43092212-43092212, | NEUTRAL | 0.22756 | 29360550 |
BRCA1 | 1100 | COSM6948420, | lung | carcinoma | p.S741F | Substitution - Missense | 17:43093309-43093309, | NEUTRAL | 0.22111 | 28481359 |
BRCA1 | 1100 | COSM6942636, | large_intestine | carcinoma | p.K1264N | Substitution - Missense | 17:43091739-43091739, | NEUTRAL | 0.21609 | 28481359 |
BRCA1 | 1100 | COSM6944157, | breast | carcinoma | p.P364R | Substitution - Missense | 17:43094440-43094440, | NEUTRAL | 0.2118 | 28481359 |
BRCA1 | 1100 | COSM6907423, | urinary_tract | carcinoma | p.S1286T | Substitution - Missense | 17:43091674-43091674, | NEUTRAL | 0.20144 | 25225064 |
BRCA1 | 1100 | COSM5575523, | ovary | carcinoma | p.N913Y | Substitution - Missense | 17:43092794-43092794, | NEUTRAL | 0.19983 | 25846551 |
BRCA1 | 1100 | COSM6919916, | ovary | carcinoma | p.E1446* | Substitution - Nonsense | 17:43082425-43082425, | NEUTRAL | 0.19901 | 28481359 |
BRCA1 | 1100 | COSM6956228, | large_intestine | carcinoma | p.L1564P | Substitution - Missense | 17:43071223-43071223, | NEUTRAL | 0.1972 | 28481359 |
BRCA1 | 1100 | COSM6995466, | ovary | germ_cell_tumour | p.E349K | Substitution - Missense | 17:43094486-43094486, | NEUTRAL | 0.19181 | 28954785 |
BRCA1 | 1100 | COSM6953777, | skin | carcinoma | p.P1190L | Substitution - Missense | 17:43091962-43091962, | NEUTRAL | 0.18969 | 28481359 |
BRCA1 | 1100 | COSM6907422, | urinary_tract | carcinoma | p.P364A | Substitution - Missense | 17:43094441-43094441, | NEUTRAL | 0.18829 | 25225064 |
BRCA1 | 1100 | COSM133664, | breast | carcinoma | p.K38N | Substitution - Missense | 17:43115746-43115746, | NEUTRAL | 0.1866 | 22116506 |
BRCA1 | 1100 | COSM5730331, | breast | other | p.T1249P | Substitution - Missense | 17:43091786-43091786, | NEUTRAL | 0.18571 | 26437033 |
BRCA1 | 1100 | COSM6922310, | lung | carcinoma | p.N1016I | Substitution - Missense | 17:43092484-43092484, | NEUTRAL | 0.18416 | 28481359 |
BRCA1 | 1100 | COSM6904368, | breast | carcinoma | p.E842K | Substitution - Missense | 17:43093007-43093007, | NEUTRAL | 0.1811 | 27925203 |
BRCA1 | 1100 | COSM6955235, | large_intestine | carcinoma | p.L750I | Substitution - Missense | 17:43093283-43093283, | NEUTRAL | 0.17966 | 28481359 |
BRCA1 | 1100 | COSM6951826, | central_nervous_system | glioma | p.D1123N | Substitution - Missense | 17:43092164-43092164, | NEUTRAL | 0.17653 | 28481359 |
BRCA1 | 1100 | COSM6943774, | urinary_tract | carcinoma | p.P1315L | Substitution - Missense | 17:43091587-43091587, | NEUTRAL | 0.17155 | 28481359 |
BRCA1 | 1100 | COSM6963363, | skin | carcinoma | p.E352D | Substitution - Missense | 17:43094475-43094475, | NEUTRAL | 0.17072 | 28481359 |
BRCA1 | 1100 | COSM6968230, | skin | malignant_melanoma | p.I1237L | Substitution - Missense | 17:43091822-43091822, | NEUTRAL | 0.16975 | 28481359 |
BRCA1 | 1100 | COSM6940749, | lung | carcinoma | p.L269F | Substitution - Missense | 17:43094724-43094724, | NEUTRAL | 0.16629 | 28481359 |
BRCA1 | 1100 | COSM33563, | breast | carcinoma | p.G778C | Substitution - Missense | 17:43093199-43093199, | NEUTRAL | 0.16554 | 16959974 |
BRCA1 | 1100 | COSM5575440, | ovary | carcinoma | p.P1562T | Substitution - Missense | 17:43071230-43071230, | NEUTRAL | 0.16513 | 25846551 |
BRCA1 | 1100 | COSM6980775, | prostate | carcinoma | p.N473S | Substitution - Missense | 17:43094113-43094113, | NEUTRAL | 0.16198 | 28481359 |
BRCA1 | 1100 | COSM7325180, | biliary_tract | carcinoma | p.L1558I | Substitution - Missense | 17:43074334-43074334, | NEUTRAL | 0.15975 | 29360550 |
BRCA1 | 1100 | COSM7325180, | biliary_tract | carcinoma | p.L1558I | Substitution - Missense | 17:43074334-43074334, | NEUTRAL | 0.15975 | 29360550 |
BRCA1 | 1100 | COSM6964076, | lung | carcinoma | p.H1244Y | Substitution - Missense | 17:43091801-43091801, | NEUTRAL | 0.15277 | 28481359 |
BRCA1 | 1100 | COSM6964584, | large_intestine | carcinoma | p.G890W | Substitution - Missense | 17:43092863-43092863, | NEUTRAL | 0.15113 | 28481359 |
BRCA1 | 1100 | COSM6944146, | urinary_tract | carcinoma | p.E1490Q | Substitution - Missense | 17:43076504-43076504, | NEUTRAL | 0.15026 | 28481359 |
BRCA1 | 1100 | COSM6944146, | urinary_tract | carcinoma | p.E1490Q | Substitution - Missense | 17:43076504-43076504, | NEUTRAL | 0.15026 | 28481359 |
BRCA1 | 1100 | COSM4066742, | skin | carcinoma | p.S1499F | Substitution - Missense | 17:43074510-43074510, | NEUTRAL | 0.14306 | 28481359 |
BRCA1 | 1100 | COSM1645401, | large_intestine | carcinoma | p.N1067Y | Substitution - Missense | 17:43092332-43092332, | NEUTRAL | 0.142 | 23700467 |
BRCA1 | 1100 | COSM6965200, | urinary_tract | carcinoma | p.D695N | Substitution - Missense | 17:43093448-43093448, | NEUTRAL | 0.14019 | 28481359 |
BRCA1 | 1100 | COSM6946371, | large_intestine | carcinoma | p.S741Y | Substitution - Missense | 17:43093309-43093309, | NEUTRAL | 0.13857 | 28481359 |
BRCA1 | 1100 | COSM6911858, | lung | carcinoma | p.A1308S | Substitution - Missense | 17:43091609-43091609, | NEUTRAL | 0.13746 | 28481359 |
BRCA1 | 1100 | COSM6932046, | central_nervous_system | glioma | p.L471F | Substitution - Missense | 17:43094120-43094120, | NEUTRAL | 0.13685 | 28481359 |
BRCA1 | 1100 | COSM5009557, | large_intestine | carcinoma | p.S335I | Substitution - Missense | 17:43094527-43094527, | NEUTRAL | 0.13564 | 24951259 |
BRCA1 | 1100 | COSM6986490, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.N550H | Substitution - Missense | 17:43093883-43093883, | NEUTRAL | 0.1301 | 28481359 |
BRCA1 | 1100 | COSM5607950, | skin | malignant_melanoma | p.S1241F | Substitution - Missense | 17:43091809-43091809, | NEUTRAL | 0.12173 | 26343386 |
BRCA1 | 1100 | COSM219050, | ovary | carcinoma | p.E836* | Substitution - Nonsense | 17:43093025-43093025, | NEUTRAL | 0.11594 | 20606085 |
BRCA1 | 1100 | COSM6849656, | breast | carcinoma | p.E1373E | Substitution - coding silent | 17:43091010-43091010, | NEUTRAL | 0.11335 | 28270497 |
BRCA1 | 1100 | COSM1577247, | ovary | carcinoma | p.L1276* | Substitution - Nonsense | 17:43091704-43091704, | NEUTRAL | 0.11244 | 23633455 |
BRCA1 | 1100 | COSM6909111, | urinary_tract | carcinoma | p.H1284Y | Substitution - Missense | 17:43091681-43091681, | NEUTRAL | 0.11141 | 28481359 |
BRCA1 | 1100 | COSM3190103, | large_intestine | carcinoma | p.E575K | Substitution - Missense | 17:43093808-43093808, | NEUTRAL | 0.10995 | 28481359 |
BRCA1 | 1100 | COSM6910271, | breast | carcinoma | p.G1825R | Substitution - Missense | 17:43045797-43045797, | NEUTRAL | 0.10907 | 28481359 |
BRCA1 | 1100 | COSM6951202, | breast | carcinoma | p.R951K | Substitution - Missense | 17:43092679-43092679, | NEUTRAL | 0.10898 | 28481359 |
BRCA1 | 1100 | COSM6951007, | urinary_tract | carcinoma | p.E1413K | Substitution - Missense | 17:43082524-43082524, | NEUTRAL | 0.10761 | 28481359 |
BRCA1 | 1100 | COSM6923792, | breast | carcinoma | p.S561F | Substitution - Missense | 17:43093849-43093849, | NEUTRAL | 0.10757 | 28481359 |
BRCA1 | 1100 | COSM95581, | large_intestine | carcinoma | p.E1644* | Substitution - Nonsense | 17:43070984-43070984, | NEUTRAL | 0.10718 | 28481359 |
BRCA1 | 1100 | COSM95581, | lung | carcinoma | p.E1644* | Substitution - Nonsense | 17:43070984-43070984, | NEUTRAL | 0.10718 | 20668451 |
BRCA1 | 1100 | COSM6984614, | endometrium | carcinoma | p.E1112A | Substitution - Missense | 17:43092196-43092196, | NEUTRAL | 0.10672 | 28481359 |
BRCA1 | 1100 | COSM6940989, | urinary_tract | carcinoma | p.D345H | Substitution - Missense | 17:43094498-43094498, | NEUTRAL | 0.10434 | 28481359 |
BRCA1 | 1100 | COSM6920782, | lung | carcinoma | p.E1214D | Substitution - Missense | 17:43091889-43091889, | NEUTRAL | 0.10421 | 28481359 |
BRCA1 | 1100 | COSM4989395, | soft_tissue | haemangioblastoma | p.D693N | Substitution - Missense | 17:43093454-43093454, | NEUTRAL | 0.10317 | 25589003 |
BRCA1 | 1100 | COSM4989395, | soft_tissue | haemangioblastoma | p.D693N | Substitution - Missense | 17:43093454-43093454, | NEUTRAL | 0.10317 | 25589003 |
BRCA1 | 1100 | COSM6976685, | central_nervous_system | glioma | p.P497S | Substitution - Missense | 17:43094042-43094042, | NEUTRAL | 0.10125 | 28481359 |
BRCA1 | 1100 | COSM6928176, | urinary_tract | carcinoma | p.E1185Q | Substitution - Missense | 17:43091978-43091978, | NEUTRAL | 0.09946 | 28481359 |
BRCA1 | 1100 | COSM5575249, | ovary | carcinoma | p.Y777* | Substitution - Nonsense | 17:43093200-43093200, | NEUTRAL | 0.09751 | 25846551 |
BRCA1 | 1100 | COSM219051, | ovary | carcinoma | p.E1609* | Substitution - Nonsense | 17:43071089-43071089, | NEUTRAL | 0.09579 | 20606085 |
BRCA1 | 1100 | COSM6987719, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.I946F | Substitution - Missense | 17:43092695-43092695, | NEUTRAL | 0.09324 | 28481359 |
BRCA1 | 1100 | COSM5009437, | large_intestine | carcinoma | p.R1762G | Substitution - Missense | 17:43051111-43051111, | NEUTRAL | 0.09311 | 24951259 |
BRCA1 | 1100 | COSM93977, | breast | carcinoma | p.I986M | Substitution - Missense | 17:43092573-43092573, | NEUTRAL | 0.09289 | 20668451 |
BRCA1 | 1100 | COSM6929392, | NS | malignant_melanoma | p.S770L | Substitution - Missense | 17:43093222-43093222, | NEUTRAL | 0.09203 | 28481359 |
BRCA1 | 1100 | COSM5575374, | ovary | carcinoma | p.M1008I | Substitution - Missense | 17:43092507-43092507, | NEUTRAL | 0.0902 | 25846551 |
BRCA1 | 1100 | COSM5007993, | large_intestine | carcinoma | p.R979R | Substitution - coding silent | 17:43092594-43092594, | NEUTRAL | 0.08997 | 24951259 |
BRCA1 | 1100 | COSM6944302, | large_intestine | carcinoma | p.K556Q | Substitution - Missense | 17:43093865-43093865, | NEUTRAL | 0.08484 | 28481359 |
BRCA1 | 1100 | COSM3190057, | endometrium | carcinoma | p.E962K | Substitution - Missense | 17:43092647-43092647, | NEUTRAL | 0.08371 | 28481359 |
BRCA1 | 1100 | COSM6944155, | breast | carcinoma | p.R496C | Substitution - Missense | 17:43094045-43094045, | NEUTRAL | 0.08315 | 28481359 |
BRCA1 | 1100 | COSM309513, | lung | carcinoma | p.I1858I | Substitution - coding silent | 17:43045696-43045696, | NEUTRAL | 0.08211 | 22941188 |
BRCA1 | 1100 | COSM6943405, | urinary_tract | carcinoma | p.E250K | Substitution - Missense | 17:43094783-43094783, | NEUTRAL | 0.08063 | 28481359 |
BRCA1 | 1100 | COSM5009291, | large_intestine | carcinoma | p.S1021S | Substitution - coding silent | 17:43092468-43092468, | NEUTRAL | 0.0803 | 24951259 |
BRCA1 | 1100 | COSM6913810, | breast | carcinoma | p.K608N | Substitution - Missense | 17:43093707-43093707, | NEUTRAL | 0.0776 | 28481359 |
BRCA1 | 1100 | COSM5575486, | ovary | carcinoma | p.Q921H | Substitution - Missense | 17:43092768-43092768, | NEUTRAL | 0.07549 | 25846551 |
BRCA1 | 1100 | COSM5575401, | ovary | carcinoma | p.? | Unknown | 17:43094868-43094868, | NEUTRAL | 0.07194 | 25846551 |
BRCA1 | 1100 | COSM6950497, | autonomic_ganglia | neuroblastoma | p.E457* | Substitution - Nonsense | 17:43094162-43094162, | NEUTRAL | 0.07022 | 28481359 |
BRCA1 | 1100 | COSM6971202, | urinary_tract | carcinoma | p.D1546Y | Substitution - Missense | 17:43074370-43074370, | NEUTRAL | 0.06978 | 28481359 |
BRCA1 | 1100 | COSM6980253, | large_intestine | carcinoma | p.Q202R | Substitution - Missense | 17:43095911-43095911, | NEUTRAL | 0.0672 | 28481359 |
BRCA1 | 1100 | COSM6924946, | lung | carcinoma | p.G1543V | Substitution - Missense | 17:43074378-43074378, | NEUTRAL | 0.06708 | 28481359 |
BRCA1 | 1100 | COSM33259, | breast | carcinoma | p.L758F | Substitution - Missense | 17:43093257-43093257, | NEUTRAL | 0.06614 | 16959974 |
BRCA1 | 1100 | COSM6942405, | autonomic_ganglia | neuroblastoma | p.I783L | Substitution - Missense | 17:43093184-43093184, | NEUTRAL | 0.06602 | 28481359 |
BRCA1 | 1100 | COSM5575368, | ovary | carcinoma | p.S1551T | Substitution - Missense | 17:43074355-43074355, | NEUTRAL | 0.06316 | 25846551 |
BRCA1 | 1100 | COSM6946369, | large_intestine | carcinoma | p.K1278Q | Substitution - Missense | 17:43091699-43091699, | NEUTRAL | 0.06225 | 28481359 |
BRCA1 | 1100 | COSM4936462, | urinary_tract | carcinoma | p.A1608T | Substitution - Missense | 17:43071092-43071092, | NEUTRAL | 0.06047 | 28481359 |
BRCA1 | 1100 | COSM6948299, | central_nervous_system | glioma | p.G1371E | Substitution - Missense | 17:43091017-43091017, | NEUTRAL | 0.05993 | 28481359 |
BRCA1 | 1100 | COSM6918674, | skin | carcinoma | p.P1315S | Substitution - Missense | 17:43091588-43091588, | NEUTRAL | 0.05835 | 28481359 |
BRCA1 | 1100 | COSM3755566, | large_intestine | carcinoma | p.L771L | Substitution - coding silent | 17:43093220-43093220, | NEUTRAL | 0.05772 | 24951259 |
BRCA1 | 1100 | COSM3755566, | breast | carcinoma | p.L771L | Substitution - coding silent | 17:43093220-43093220, | NEUTRAL | 0.05772 | 28270497 |
BRCA1 | 1100 | COSM6962805, | central_nervous_system | glioma | p.S242N | Substitution - Missense | 17:43094806-43094806, | NEUTRAL | 0.0562 | 28481359 |
BRCA1 | 1100 | COSM6983858, | salivary_gland | carcinoma | p.S1466I | Substitution - Missense | 17:43076575-43076575, | NEUTRAL | 0.05608 | 28481359 |
BRCA1 | 1100 | COSM6927490, | lung | carcinoma | p.P334S | Substitution - Missense | 17:43094531-43094531, | NEUTRAL | 0.05557 | 28481359 |
BRCA1 | 1100 | COSM5575455, | ovary | carcinoma | p.T1619S | Substitution - Missense | 17:43071059-43071059, | NEUTRAL | 0.05258 | 25846551 |
BRCA1 | 1100 | COSM249516, | kidney | carcinoma | p.Q895R | Substitution - Missense | 17:43092847-43092847, | NEUTRAL | 0.05154 | 22138691 |
BRCA1 | 1100 | COSM35894, | breast | carcinoma | p.S1140G | Substitution - Missense | 17:43092113-43092113, | NEUTRAL | 0.05141 | 19593635 |
BRCA1 | 1100 | COSM6984759, | lung | carcinoma | p.G1624W | Substitution - Missense | 17:43071044-43071044, | NEUTRAL | 0.05094 | 28481359 |
BRCA1 | 1100 | COSM6972019, | biliary_tract | carcinoma | p.S708C | Substitution - Missense | 17:43093408-43093408, | NEUTRAL | 0.05018 | 28481359 |
BRCA1 | 1100 | COSM5010127, | large_intestine | carcinoma | p.L735L | Substitution - coding silent | 17:43093326-43093326, | NEUTRAL | 0.0501 | 24951259 |
BRCA1 | 1100 | COSM3755563, | breast | carcinoma | p.E1038G | Substitution - Missense | 17:43092418-43092418, | NEUTRAL | 0.05009 | 28270497 |
BRCA1 | 1100 | COSM3755563, | thymus | thymoma | p.E1038G | Substitution - Missense | 17:43092418-43092418, | NEUTRAL | 0.05009 | 24974848 |
BRCA1 | 1100 | COSM6929070, | central_nervous_system | glioma | p.S1434N | Substitution - Missense | 17:43082460-43082460, | NEUTRAL | 0.04749 | 28481359 |
BRCA1 | 1100 | COSM6915241, | testis | germ_cell_tumour | p.G535R | Substitution - Missense | 17:43093928-43093928, | NEUTRAL | 0.04664 | 28481359 |
BRCA1 | 1100 | COSM6965466, | salivary_gland | carcinoma | p.L413M | Substitution - Missense | 17:43094294-43094294, | NEUTRAL | 0.0446 | 28481359 |
BRCA1 | 1100 | COSM6947518, | lung | carcinoma | p.P1491L | Substitution - Missense | 17:43076500-43076500, | NEUTRAL | 0.04459 | 28481359 |
BRCA1 | 1100 | COSM6947518, | urinary_tract | carcinoma | p.P1491L | Substitution - Missense | 17:43076500-43076500, | NEUTRAL | 0.04459 | 28481359 |
BRCA1 | 1100 | COSM4990999, | skin | carcinoma | p.L1439F | Substitution - Missense | 17:43082446-43082446, | NEUTRAL | 0.04416 | 25589618 |
BRCA1 | 1100 | COSM5575519, | ovary | carcinoma | p.? | Unknown | 17:43074529-43074529, | NEUTRAL | 0.04394 | 25846551 |
BRCA1 | 1100 | COSM6982900, | breast | carcinoma | p.Q1525H | Substitution - Missense | 17:43074431-43074431, | NEUTRAL | 0.04328 | 28481359 |
BRCA1 | 1100 | COSM93979, | lung | carcinoma | p.V370I | Substitution - Missense | 17:43094423-43094423, | NEUTRAL | 0.04309 | 28481359 |
BRCA1 | 1100 | COSM93979, | breast | carcinoma | p.V370I | Substitution - Missense | 17:43094423-43094423, | NEUTRAL | 0.04309 | 20668451 |
BRCA1 | 1100 | COSM5589839, | kidney | carcinoma | p.P930S | Substitution - Missense | 17:43092743-43092743, | NEUTRAL | 0.04148 | 28481359 |
BRCA1 | 1100 | COSM6956818, | lung | carcinoma | p.V1035D | Substitution - Missense | 17:43092427-43092427, | NEUTRAL | 0.04117 | 28481359 |
BRCA1 | 1100 | COSM4416375, | large_intestine | carcinoma | p.S1436S | Substitution - coding silent | 17:43082453-43082453, | NEUTRAL | 0.04109 | 24951259 |
BRCA1 | 1100 | COSM4883379, | ovary | carcinoma | p.D1582E | Substitution - Missense | 17:43071168-43071168, | NEUTRAL | 0.0392 | 25846551 |
BRCA1 | 1100 | COSM6938515, | large_intestine | carcinoma | p.H399R | Substitution - Missense | 17:43094335-43094335, | NEUTRAL | 0.03899 | 28481359 |
BRCA1 | 1100 | COSM5607952, | skin | malignant_melanoma | p.F958F | Substitution - coding silent | 17:43092657-43092657, | NEUTRAL | 0.03891 | 26343386 |
BRCA1 | 1100 | COSM6923117, | central_nervous_system | glioma | p.V1378I | Substitution - Missense | 17:43090997-43090997, | NEUTRAL | 0.0382 | 28481359 |
BRCA1 | 1100 | COSM5989940, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.S153R | Substitution - Missense | 17:43099865-43099865, | NEUTRAL | 0.03784 | 26648538 |
BRCA1 | 1100 | COSM6915175, | lung | carcinoma | p.R1762M | Substitution - Missense | 17:43051110-43051110, | NEUTRAL | 0.03728 | 28481359 |
BRCA1 | 1100 | COSM3190073, | large_intestine | carcinoma | p.T843A | Substitution - Missense | 17:43093004-43093004, | NEUTRAL | 0.03695 | 28481359 |
BRCA1 | 1100 | COSM5575245, | ovary | carcinoma | p.W1508C | Substitution - Missense | 17:43074482-43074482, | NEUTRAL | 0.03582 | 25846551 |
BRCA1 | 1100 | COSM6967916, | lung | carcinoma | p.N1488S | Substitution - Missense | 17:43076509-43076509, | NEUTRAL | 0.03457 | 28481359 |
BRCA1 | 1100 | COSM6977429, | pancreas | carcinoma | p.P568T | Substitution - Missense | 17:43093829-43093829, | NEUTRAL | 0.03452 | 28481359 |
BRCA1 | 1100 | COSM6984047, | NS | malignant_melanoma | p.G1515E | Substitution - Missense | 17:43074462-43074462, | NEUTRAL | 0.03418 | 28481359 |
BRCA1 | 1100 | COSM7325173, | biliary_tract | carcinoma | p.S434N | Substitution - Missense | 17:43094230-43094230, | NEUTRAL | 0.03308 | 29360550 |
BRCA1 | 1100 | COSM6911765, | central_nervous_system | glioma | p.S1360N | Substitution - Missense | 17:43091452-43091452, | NEUTRAL | 0.03307 | 28481359 |
BRCA1 | 1100 | COSM1246204, | urinary_tract | carcinoma | p.R841W | Substitution - Missense | 17:43093010-43093010, | NEUTRAL | 0.03177 | 28481359 |
BRCA1 | 1100 | COSM1246204, | prostate | carcinoma | p.R841W | Substitution - Missense | 17:43093010-43093010, | NEUTRAL | 0.03177 | 28481359 |
BRCA1 | 1100 | COSM3755560, | thymus | thymoma | p.S1613G | Substitution - Missense | 17:43071077-43071077, | NEUTRAL | 0.03114 | 24974848 |
BRCA1 | 1100 | COSM3755560, | large_intestine | carcinoma | p.S1613G | Substitution - Missense | 17:43071077-43071077, | NEUTRAL | 0.03114 | 24951259 |
BRCA1 | 1100 | COSM3755560, | breast | carcinoma | p.S1613G | Substitution - Missense | 17:43071077-43071077, | NEUTRAL | 0.03114 | 28270497 |
BRCA1 | 1100 | COSM6974300, | large_intestine | carcinoma | p.I1680V | Substitution - Missense | 17:43067644-43067644, | NEUTRAL | 0.03095 | 28481359 |
BRCA1 | 1100 | COSM4604945, | upper_aerodigestive_tract | carcinoma | p.K912N | Substitution - Missense | 17:43092795-43092795, | NEUTRAL | 0.0306 | 25056374 |
BRCA1 | 1100 | COSM6960597, | lung | carcinoma | p.G200V | Substitution - Missense | 17:43095917-43095917, | NEUTRAL | 0.03057 | 28481359 |
BRCA1 | 1100 | COSM6845287, | vulva | in_situ_neoplasm | p.M1008I | Substitution - Missense | 17:43092507-43092507, | NEUTRAL | 0.03023 | 27834349 |
BRCA1 | 1100 | COSM6845287, | vulva | in_situ_neoplasm | p.M1008I | Substitution - Missense | 17:43092507-43092507, | NEUTRAL | 0.03023 | 27834349 |
BRCA1 | 1100 | COSM5575442, | ovary | carcinoma | p.C636F | Substitution - Missense | 17:43093624-43093624, | NEUTRAL | 0.028 | 25846551 |
BRCA1 | 1100 | COSM6907057, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.F486L | Substitution - Missense | 17:43094075-43094075, | NEUTRAL | 0.02477 | 28481359 |
BRCA1 | 1100 | COSM6907057, | endometrium | carcinoma | p.F486L | Substitution - Missense | 17:43094075-43094075, | NEUTRAL | 0.02477 | 29420467 |
BRCA1 | 1100 | COSM6981661, | large_intestine | carcinoma | p.G1803V | Substitution - Missense | 17:43047702-43047702, | NEUTRAL | 0.02422 | 28481359 |
BRCA1 | 1100 | COSM6959551, | central_nervous_system | glioma | p.G1138E | Substitution - Missense | 17:43092118-43092118, | NEUTRAL | 0.02402 | 28481359 |
BRCA1 | 1100 | COSM5607954, | skin | malignant_melanoma | p.E1635E | Substitution - coding silent | 17:43071009-43071009, | NEUTRAL | 0.02378 | 26343386 |
BRCA1 | 1100 | COSM5575247, | ovary | carcinoma | p.Y831F | Substitution - Missense | 17:43093039-43093039, | NEUTRAL | 0.02357 | 25846551 |
BRCA1 | 1100 | COSM6977845, | prostate | carcinoma | p.T1485S | Substitution - Missense | 17:43076518-43076518, | NEUTRAL | 0.02179 | 28481359 |
BRCA1 | 1100 | COSM6914389, | skin | carcinoma | p.T236I | Substitution - Missense | 17:43094824-43094824, | NEUTRAL | 0.01787 | 28481359 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | breast | carcinoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 28270497 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | large_intestine | carcinoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 24951259 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148277, | soft_tissue | haemangioblastoma | p.K1183R | Substitution - Missense | 17:43091983-43091983, | NEUTRAL | 0.01713 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | breast | carcinoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 28270497 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | large_intestine | carcinoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 24951259 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM148278, | soft_tissue | haemangioblastoma | p.P871L | Substitution - Missense | 17:43092919-43092919, | NEUTRAL | 0.01658 | 25589003 |
BRCA1 | 1100 | COSM5575361, | ovary | carcinoma | p.V1493E | Substitution - Missense | 17:43076494-43076494, | NEUTRAL | 0.01519 | 25846551 |
BRCA1 | 1100 | COSM1168835, | bone | osteosarcoma | p.T539M | Substitution - Missense | 17:43093915-43093915, | NEUTRAL | 0.01366 | 27499911 |
BRCA1 | 1100 | COSM6612502, | large_intestine | carcinoma | p.L1260V | Substitution - Missense | 17:43091753-43091753, | NEUTRAL | 0.01236 | 28481359 |
BRCA1 | 1100 | COSM6952888, | pancreas | carcinoma | p.Y1625C | Substitution - Missense | 17:43071040-43071040, | NEUTRAL | 0.0123 | 28481359 |
BRCA1 | 1100 | COSM6976683, | central_nervous_system | glioma | p.E1540K | Substitution - Missense | 17:43074388-43074388, | NEUTRAL | 0.01172 | 28481359 |
BRCA1 | 1100 | COSM6913715, | central_nervous_system | glioma | p.G200R | Substitution - Missense | 17:43095918-43095918, | NEUTRAL | 0.00897 | 28481359 |
BRCA1 | 1100 | COSM6932044, | central_nervous_system | glioma | p.M751I | Substitution - Missense | 17:43093278-43093278, | NEUTRAL | 0.00897 | 28481359 |
BRCA1 | 1100 | COSM6938826, | large_intestine | carcinoma | p.I171T | Substitution - Missense | 17:43099810-43099810, | NEUTRAL | 0.00887 | 28481359 |
BRCA1 | 1100 | COSM1521479, | large_intestine | carcinoma | p.A622A | Substitution - coding silent | 17:43093665-43093665, | NEUTRAL | 0.00681 | 24951259 |
BRCA1 | 1100 | COSM6971572, | lung | carcinoma | p.T922A | Substitution - Missense | 17:43092767-43092767, | NEUTRAL | 0.00579 | 28481359 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM148280, | large_intestine | carcinoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 24951259 |
BRCA1 | 1100 | COSM148280, | breast | carcinoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 28270497 |
BRCA1 | 1100 | COSM148280, | soft_tissue | haemangioblastoma | p.S694S | Substitution - coding silent | 17:43093449-43093449, | NEUTRAL | 0.00463 | 25589003 |
BRCA1 | 1100 | COSM6941994, | large_intestine | carcinoma | p.S1448N | Substitution - Missense | 17:43082418-43082418, | NEUTRAL | 0.00445 | 28481359 |
BRCA1 | 1100 | COSM5743853, | thyroid | adenoma-nodule-goitre | p.R496H | Substitution - Missense | 17:43094044-43094044, | NEUTRAL | 0.00389 | 28481359 |
BRCA1 | 1100 | COSM5008016, | large_intestine | carcinoma | p.R332Q | Substitution - Missense | 17:43094536-43094536, | NEUTRAL | 0.00324 | 24951259 |
BRCA1 | 1100 | COSM5010125, | large_intestine | carcinoma | p.S1587P | Substitution - Missense | 17:43071155-43071155, | NEUTRAL | 0.00177 | 24951259 |
BRCA1 | 1100 | COSM5575550, | ovary | carcinoma | p.D1506N | Substitution - Missense | 17:43074490-43074490, | NEUTRAL | 0.00168 | 25846551 |
BRCA1 | 1100 | COSM6943772, | urinary_tract | carcinoma | p.E1478Q | Substitution - Missense | 17:43076540-43076540, | NEUTRAL | 0.00082 | 28481359 |
BRCA1 | 1100 | COSM5415231, | endometrium | carcinoma | p.?fs*? | Deletion - Frameshift | Info_not_available | Info_not_available | Info_not_available | 25233892 |
BRCA1 | 1100 | COSM4603640, | pancreas | carcinoma | p.?, p.E1250fs*8, p.E23fs*17, p.W1508* | Frameshift, Substitution - Nonsense, Unknown | Info_not_available | Info_not_available | Info_not_available | 25266736 |
BRCA1 | 1100 | COSM4984808, | lung | carcinoma | p.E1011K | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25567908 |
BRCA1 | 1100 | COSM3190163, | soft_tissue | haemangioblastoma | p.E23fs*17 | Deletion - Frameshift | 17:43124028-43124029, | Info_not_available | Info_not_available | 25589003 |
BRCA1 | 1100 | COSM5032207, | lung | carcinoma | p.A224S, p.K223N | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25922291 |
BRCA1 | 1100 | COSM6057040, | lung | carcinoma | p.E648Q | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 25971939 |
BRCA1 | 1100 | COSM6023966, | NS | carcinoma | p.C39fs*1, p.Q1756fs*74 | Frameshift | Info_not_available | Info_not_available | Info_not_available | 26182302 |
BRCA1 | 1100 | COSM6005480, | breast | carcinoma, other | p.D1505fs*43 | Deletion - Frameshift | 17:43074494-43074494, | Info_not_available | Info_not_available | 26806567 |
BRCA1 | 1100 | COSM5702555, | ovary | germ_cell_tumour | p.L502fs*2 | Deletion - Frameshift | 17:43094023-43094027, | Info_not_available | Info_not_available | 26822237 |
BRCA1 | 1100 | COSM6022878, | lung | carcinoma | p.C903* | Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 27528220 |
BRCA1 | 1100 | COSM5985660, | lung | carcinoma | p.K1702E | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 27588476 |
BRCA1 | 1100 | COSM6904461, | upper_aerodigestive_tract | carcinoma | p.D366H | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 28493366 |
BRCA1 | 1100 | COSM6904547, | breast | carcinoma | p.I492L, p.Q563H | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 28921573 |
BRCA1 | 1100 | COSM4166524, | upper_aerodigestive_tract | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 28961834 |
BRCA1 | 1100 | COSM6865932, | skin | malignant_melanoma | p.R841W | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 29264386 |
BRCA1 | 1100 | COSM6997553, | liver | carcinoma | p.G511G | Substitution - coding silent | Info_not_available | Info_not_available | Info_not_available | 29487225 |
BRCA1 | 1100 | COSM23923, | ovary | carcinoma | p.A1814fs*20 | Deletion - Frameshift | 17:43047670-43047670, | Info_not_available | Info_not_available | 7795636 |
BRCA1 | 1100 | COSM24529, | ovary | carcinoma | p.Q12fs*5, p.S1796fs*34 | Insertion - Frameshift | 17:43124064-43124065, | Info_not_available | Info_not_available | 7795652 |
BRCA1 | 1100 | COSM23948, | ovary | carcinoma | p.E730*, p.G817fs*29, p.Q1420*, p.R1835*, p.V757fs*8, p.Y655fs*18 | Deletion - Frameshift, Insertion - Frameshift, Substitution - Nonsense | 17:43093570-43093571, | Info_not_available | Info_not_available | 9796975 |
BRCA1 | 1100 | COSM4387488, | haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | p.0 | Whole gene deletion | Info_not_available | Info_not_available | Info_not_available | 24997557 |
BRCA1 | 1100 | COSM23931, | endometrium | carcinoma | p.K1183fs*4 | Deletion - Frameshift | 17:43091982-43091983, | Info_not_available | Info_not_available | 10451700 |
BRCA1 | 1100 | COSM23934, | breast | carcinoma | p.I925fs*13 | Insertion - Frameshift | 17:43092757-43092758, | Info_not_available | Info_not_available | 10467410 |
BRCA1 | 1100 | COSM24626, | ovary | carcinoma | p.F869fs*35 | Insertion - Frameshift | 17:43092926-43092927, | Info_not_available | Info_not_available | 10686936 |
BRCA1 | 1100 | COSM23932, | ovary | carcinoma | p.C1146fs*8 | Deletion - Frameshift | 17:43092092-43092095, | Info_not_available | Info_not_available | 11240689 |
BRCA1 | 1100 | COSM23959, | breast | carcinoma | p.E1288fs*19 | Deletion - Frameshift | 17:43091669-43091669, | Info_not_available | Info_not_available | 15712267 |
BRCA1 | 1100 | COSM35893, | breast | carcinoma | p.E23fs*17, p.P724fs*12, p.Q1756fs*74 | Deletion - Frameshift, Insertion - Frameshift | 17:43124030-43124031, | Info_not_available | Info_not_available | 19593635 |
BRCA1 | 1100 | COSM219055, | ovary | carcinoma | p.?, p.E29*, p.G1738R, p.H816fs*3, p.K654fs*47, p.N287fs*6 | Deletion - Frameshift, Substitution - Missense, Substitution - Nonsense, Unknown | 17:43094668-43094672, | Info_not_available | Info_not_available | 20606085 |
BRCA1 | 1100 | COSM1666857, | ovary | carcinoma | p.K1254fs*11, p.V1176fs*34 | Deletion - Frameshift | 17:43092005-43092005, | Info_not_available | Info_not_available | 23633455 |
BRCA1 | 1100 | COSM1666627, | ovary | carcinoma | p.A17fs*14, p.E23fs*17, p.M1775fs*54, p.Q1756fs*74, p.Q1756fs*75, p.Y1522* | Frameshift, Substitution - Nonsense | Info_not_available | Info_not_available | Info_not_available | 23791828 |
BRCA1 | 1100 | COSM1666622, | biliary_tract | carcinoma | p.Q1756fs*74 | Frameshift | Info_not_available | Info_not_available | Info_not_available | 24563076 |
BRCA1 | 1100 | COSM4603914, | upper_aerodigestive_tract | carcinoma | p.V83fs*2 | Insertion - Frameshift | 17:43104922-43104923, | Info_not_available | Info_not_available | 25056374 |
BRCA1 | 1100 | COSM4166524, | breast | carcinoma | p.? | Unknown | Info_not_available | Info_not_available | Info_not_available | 24849582 |
BRCA1 | 1100 | COSM4172552, | skin | malignant_melanoma | p.?, p.P938S | Substitution - Missense, Unknown | Info_not_available | Info_not_available | Info_not_available | 24628946 |
BRCA1 | 1100 | COSM4766055, | breast | carcinoma | p.S1796fs*34 | Insertion - Frameshift | 17:43049141-43049142, | Info_not_available | Info_not_available | 24185510 |
BRCA1 | 1100 | COSM5881439, | haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | p.R163G | Substitution - Missense | Info_not_available | Info_not_available | Info_not_available | 24150215 |
BRCA1 | 1100 | COSM3517885, | skin | carcinoma | p.P985L | Substitution - Missense | 17:43092577-43092577, | Info_not_available | 0.69524 | 25589618 |
BRCA1 | 1100 | COSM6444637, | endometrium | carcinoma | p.I1568S | Substitution - Missense | 17:43071211-43071211, | Info_not_available | 0.67445 | 27159395 |
BRCA1 | 1100 | COSM6906633, | urinary_tract | carcinoma | p.R1347T | Substitution - Missense | 17:43091491-43091491, | Info_not_available | 0.66658 | 29420467 |
BRCA1 | 1100 | COSM6019339, | lung | carcinoma | p.E1346K | Substitution - Missense | 17:43091495-43091495, | Info_not_available | 0.66017 | 27694386 |
BRCA1 | 1100 | COSM5607956, | skin | malignant_melanoma | p.V271V | Substitution - coding silent | 17:43094718-43094718, | Info_not_available | 0.61579 | 26343386 |
BRCA1 | 1100 | COSM23941, | breast | carcinoma | p.? | Unknown | 17:43124099-43124099, | Info_not_available | 0.56487 | 9665150 |
BRCA1 | 1100 | COSM5575476, | ovary | carcinoma | p.K893fs*107, p.Q921L, p.R446fs*9 | Deletion - Frameshift, Substitution - Missense | 17:43094195-43094196, | Info_not_available | 0.55798, Info_not_available | 25846551 |
BRCA1 | 1100 | COSM133667, | breast | carcinoma | p.C64fs*1, p.G275D, p.K309Q | Deletion - Frameshift, Substitution - Missense | 17:43106456-43106477, | Info_not_available | 0.55347, .67357, Info_not_available | 22116506 |
BRCA1 | 1100 | COSM6024027, | ovary | carcinoma | p.Q210* | Substitution - Nonsense | 17:43095888-43095888, | Info_not_available | 0.53112 | 27533253 |
BRCA1 | 1100 | COSM85905, | breast | carcinoma | p.S451* | Substitution - Nonsense | 17:43094179-43094179, | Info_not_available | 0.52772 | 21233401 |
BRCA1 | 1100 | COSM5009494, | large_intestine | carcinoma | p.E143K | Substitution - Missense | 17:43104136-43104136, | Info_not_available | 0.52521 | 24951259 |
BRCA1 | 1100 | COSM979733, | biliary_tract, breast, central_nervous_system, endometrium, eye, haematopoietic_and_lymphoid_tissue, large_intestine, lung, ovary, pancreas, prostate, skin, soft_tissue, stomach, thyroid, upper_aerodigestive_tract, urinary_tract | carcinoma, glioma, leiomyosarcoma, lymphoid_neoplasm, malignant_melanoma | p.?, p.E1013fs*4, p.E1219fs*12, p.E1258*, p.E1258D, p.E1451*, p.E23fs*18, p.E597*, p.E686fs*1, p.E729fs*10, p.E75fs*13, p.G1371fs*4, p.G1801fs*33, p.G911fs*89, p.I1723V, p.I986fs*14, p.K1079fs*2, p.K339fs*2, p.K654fs*47, p.L1317fs*1, p.L1517V, p.L1764fs*1, p.L290fs*8, p.L358fs*13, p.L666I, p.M1663V, p.M1728fs*2, p.N567fs*16, p.P1190F, p.P1192F, p.P634S, p.Q1240E, p.Q1240L, p.Q1756*, p.Q210fs*6, p.R1347T, p.R296K, p.R71fs*10, p.R7_E9>Q, p.S1497P, p.S1569G, p.S886fs*16, p.T464fs*11, p.V1654fs*4, p.V1792L, p.Y655fs*18 | Complex - deletion inframe, Complex - frameshift, Deletion - Frameshift, Insertion - Frameshift, Substitution - Missense, Substitution - Nonsense, Unknown | 17:43124072-43124077, | Info_not_available | 0.50432, .51501, .51649, .52623, .56306, .57502, .58901, .59178, .60261, .62766, .63384, .64677, .65418, .66658, .6726, .67974, Info_not_available | 28481359 |
BRCA1 | 1100 | COSM93976, | breast | carcinoma | p.E1011K | Substitution - Missense | 17:43092500-43092500, | Info_not_available | 0.50284 | 20668451 |
BRCA1 | 1100 | COSM7325201, | biliary_tract | carcinoma | p.L1676F | Substitution - Missense | 17:43067654-43067654, | Info_not_available | 0.50154 | 29360550 |