| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 8314 |
Name | BAP1 |
Synonymous | HUCEP-13|TPDS|UCHL2;BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase);BAP1;BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) |
Definition | cerebral protein 6|cerebral protein-13|ubiquitin carboxyl-terminal hydrolase BAP1 |
Position | 3p21.31-p21.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for BAP1 | ||
PCGP somatic mutation [Top] | ||
There is no record for BAP1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.836C>T; p.S279L; |
ovary | other; neoplasm |
c.907G>C; p.A303P; |
salivary_gland; parotid | carcinoma; adenoid_cystic_carcinoma |
c.376-9_416del50; p.?; 3:52416476-52416525 |
eye; uveal_tract | malignant_melanoma |
c.1911_1913delGTG; p.K637_C638>N; 3:52411905-52411907 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.376-7_418del50; p.?; 3:52416474-52416523 |
eye; uveal_tract | malignant_melanoma; mixed |
c.507C>G; p.H169Q; 3:52416303-52416303 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.588G>A; p.W196*; 3:52415956-52415956 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.757C>T; p.Q253*; 3:52415335-52415335 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.845_853del9; p.E283_S285del; 3:52414899-52414907 |
eye; uveal_tract | malignant_melanoma; mixed |
c.968_978del11; p.A323fs*71; 3:52414304-52414314 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.2015A>G; p.D672G; 3:52411699-52411699 |
eye; uveal_tract | malignant_melanoma; spindle |
c.573_580+15del8; p.?; 3:52416215-52416237 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.621_636del16; p.R208fs*18; 3:52415908-52415923 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.353_372del20; p.F118fs*1; 3:52417017-52417036 |
eye; uveal_tract | malignant_melanoma; mixed |
c.759_759delG; p.T254fs*3; 3:52415333-52415333 |
eye; uveal_tract | malignant_melanoma; mixed |
c.38-25_47del35; p.?; 3:52418790-52418824 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.2188T>A; p.*730?; 3:52411346-52411346 |
eye; uveal_tract | malignant_melanoma; mixed |
c.1714_1718delCCCCT; p.P572fs*69; 3:52412483-52412487 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.144_144delC; p.L49fs*23; 3:52417641-52417641 |
eye; uveal_tract | malignant_melanoma; spindle |
c.382G>C; p.G128R; 3:52416510-52416510 |
eye; uveal_tract | malignant_melanoma; spindle |
c.507C>G; p.H169Q; 3:52416303-52416303 |
eye; uveal_tract | malignant_melanoma; mixed |
c.1997_2005del9; p.R666_H669>N; 3:52411709-52411717 |
eye; uveal_tract | malignant_melanoma; mixed |
c.273T>G; p.C91W; 3:52417116-52417116 |
eye; uveal_tract | malignant_melanoma; mixed |
c.1891_1902del12; p.E631_A634del; 3:52411916-52411927 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.495_519del25; p.E166fs*13; 3:52416291-52416315 |
eye; uveal_tract | malignant_melanoma; spindle |
c.38-12_63del38; p.?; 3:52418774-52418811 |
eye; uveal_tract | malignant_melanoma; mixed |
c.1984-1G>T; p.?; 3:52411731-52411731 |
eye; uveal_tract | malignant_melanoma; mixed |
c.516C>G; p.S172R; 3:52416294-52416294 |
eye; uveal_tract | malignant_melanoma; spindle |
c.2080_2105del26; p.Q694fs*14; 3:52411429-52411454 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.106C>T; p.Q36*; 3:52418626-52418626 |
eye; uveal_tract | malignant_melanoma; epithelioid |
c.241T>G; p.F81V; 3:52417544-52417544 |
pleura | mesothelioma; epithelial |
c.256-13_256-1del; p.?; 3:52417134-52417146 |
pleura | mesothelioma; epithelial |
c.323_324delTG; p.L108fs*17; 3:52417065-52417066 |
pleura | mesothelioma; epithelial |
c.512_512delT; p.V171fs*16; 3:52416298-52416298 |
pleura | mesothelioma; epithelial |
c.784-2A>C; p.?; 3:52414970-52414970 |
pleura | mesothelioma; epithelial |
c.1182C>G; p.Y394*; 3:52413577-52413577 |
pleura | mesothelioma; biphasic |
c.1553_1559delGGCCCTC; p.R518fs*51; 3:52412642-52412648 |
pleura | mesothelioma; epithelial |
c.1604_1604delA; p.D535fs*36; 3:52412597-52412597 |
pleura | mesothelioma; biphasic |
c.1794_1797delAGTG; p.V599fs*17; 3:52412287-52412290 |
pleura | mesothelioma; biphasic |
c.1952_1953insG; p.E652fs*12; 3:52411865-52411866 |
pleura | mesothelioma; epithelial |
c.1972A>T; p.K658*; 3:52411846-52411846 |
pleura | mesothelioma; biphasic |
c.2050C>T; p.Q684*; 3:52411664-52411664 |
pleura | mesothelioma; epithelial |
c.118C>T; p.Q40*; 3:52418614-52418614 |
pleura | mesothelioma |
c.122+2T>A; p.?; 3:52418608-52418608 |
pleura | mesothelioma |
c.437+1G>T; p.?; 3:52416454-52416454 |
pleura | mesothelioma |
c.188C>G; p.S63C; 3:52417597-52417597 |
pleura | mesothelioma |
c.273T>G; p.C91W; 3:52417116-52417116 |
pleura | mesothelioma |
c.580+2T>C; p.?; 3:52416228-52416228 |
pleura | mesothelioma |
c.602_602delA; p.E201fs*30; 3:52415942-52415942 |
pleura | mesothelioma |
c.860C>G; p.S287*; 3:52414892-52414892 |
pleura | mesothelioma |
c.1892_1901del10; p.E631fs*3; 3:52411917-52411926 |
pleura | mesothelioma |
c.1937_1955del19; p.Y646fs*3; 3:52411863-52411881 |
pleura | mesothelioma |
c.2057-4G>T; p.?; 3:52411481-52411481 |
pleura | mesothelioma |
c.2057-4G>T; p.?; 3:52411481-52411481 |
pleura | mesothelioma |
c.178C>T; p.R60*; 3:52417607-52417607 |
skin; upper_back | other; atypical_Spitzoid_tumour |
c.1768C>T; p.Q590*; 3:52412316-52412316 |
skin; upper_back | other; atypical_Spitzoid_tumour |
c.999_1050del52; p.V335fs*10; 3:52414232-52414283 |
skin; arm | malignant_melanoma |
c.278_281delCTCA; p.T93fs*4; 3:52417108-52417111 |
skin; upper_back | malignant_melanoma |
c.2090C>G; p.S697C; 3:52411444-52411444 |
skin; sole | malignant_melanoma; acral_lentiginous |
c.1153C>T; p.R385*; 3:52413606-52413606 |
eye; uveal_tract | malignant_melanoma |
c.219_219delT; p.D73fs*5; 3:52417566-52417566 |
eye; uveal_tract | malignant_melanoma |
c.58G>T; p.E20*; 3:52418779-52418779 |
eye; uveal_tract | malignant_melanoma |
c.634_634delG; p.E212fs*19; 3:52415910-52415910 |
eye; uveal_tract | malignant_melanoma |
c.915_916insT; p.E306fs*1; 3:52414836-52414837 |
eye; uveal_tract | malignant_melanoma |
c.812_821del10; p.I271fs*61; 3:52414931-52414940 |
eye; uveal_tract | malignant_melanoma |
c.226_239del14; p.I76fs*45; 3:52417546-52417559 |
eye; uveal_tract | malignant_melanoma |
c.6_7insT; p.K3fs*1; 3:52418928-52418929 |
eye; uveal_tract | malignant_melanoma |
c.993_993delA; p.K331fs*4; 3:52414289-52414289 |
eye; uveal_tract | malignant_melanoma |
c.243C>A; p.F81L; 3:52417542-52417542 |
eye; uveal_tract | malignant_melanoma |
c.172_179delTCCCGGCG; p.S58fs*8; 3:52417606-52417613 |
eye; uveal_tract | malignant_melanoma |
c.139A>T; p.I47F; 3:52417646-52417646 |
eye; uveal_tract | malignant_melanoma |
c.188C>G; p.S63C; 3:52417597-52417597 |
eye; uveal_tract | malignant_melanoma |
c.1379C>G; p.S460*; 3:52412822-52412822 |
eye; uveal_tract | malignant_melanoma |
c.133G>T; p.G45*; 3:52417652-52417652 |
skin; upper_arm | benign_melanocytic_nevus; melanocytic_tumour |
c.1768C>T; p.Q590*; 3:52412316-52412316 |
skin; shoulder | benign_melanocytic_nevus; melanocytic_tumour |
c.1145_1146insG; p.R383fs*15; 3:52413613-52413614 |
skin; ear | benign_melanocytic_nevus; melanocytic_tumour |
c.901G>A; p.A301T; 3:52414851-52414851 |
skin; upper_arm | benign_melanocytic_nevus; melanocytic_tumour |
c.1219delG; p.D407fs*23; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.406G>T; p.E136*; 3:52416486-52416486 |
lung | carcinoma; adenocarcinoma |
c.1153C>T; p.R385*; 3:52413606-52413606 |
lung | carcinoma; adenocarcinoma |
c.179G>A; p.R60Q; 3:52417606-52417606 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.459_459delT; p.E154fs*33; 3:52416351-52416351 |
skin; shoulder | other; atypical_Spitzoid_tumour |
c.920_921insG; p.N308fs*90; 3:52414831-52414832 |
skin; back | other; atypical_Spitzoid_tumour |
c.516C>G; p.S172R; 3:52416294-52416294 |
skin | other; atypical_Spitzoid_tumour |
c.68-9_72del14; p.?; 3:52418660-52418673 |
eye; uveal_tract | malignant_melanoma |
c.68-9_72del14; p.?; 3:52418660-52418673 |
eye; uveal_tract | malignant_melanoma |
c.662_662delA; p.E221fs*10; 3:52415430-52415430 |
eye; uveal_tract | malignant_melanoma |
c.662_662delA; p.E221fs*10; 3:52415430-52415430 |
eye; uveal_tract | malignant_melanoma |
c.862_920del59; p.A288fs*90; 3:52414832-52414890 |
eye; uveal_tract | malignant_melanoma |
c.862_920del59; p.A288fs*90; 3:52414832-52414890 |
eye; uveal_tract | malignant_melanoma |
c.516C>G; p.S172R; 3:52416294-52416294 |
eye; uveal_tract | malignant_melanoma |
c.516C>G; p.S172R; 3:52416294-52416294 |
eye; uveal_tract | malignant_melanoma |
c.1717_1717delC; p.L573fs*3; 3:52412484-52412484 |
eye; uveal_tract | malignant_melanoma |
c.1717_1717delC; p.L573fs*3; 3:52412484-52412484 |
eye; uveal_tract | malignant_melanoma |
c.781C>T; p.Q261*; 3:52415311-52415311 |
eye; uveal_tract | malignant_melanoma |
c.781C>T; p.Q261*; 3:52415311-52415311 |
eye; uveal_tract | malignant_melanoma |
c.790_790delA; p.R264fs*2; 3:52414962-52414962 |
eye; uveal_tract | malignant_melanoma |
c.790_790delA; p.R264fs*2; 3:52414962-52414962 |
eye; uveal_tract | malignant_melanoma |
c.568_569CC>T; p.P190fs*41; 3:52416241-52416242 |
skin; neck | benign_melanocytic_nevus; compound |
c.660_783del124; p.?; 3:52415309-52415432 |
eye; uveal_tract | malignant_melanoma |
c.1153C>T; p.R385*; 3:52413606-52413606 |
eye; uveal_tract | malignant_melanoma; spindle |
c.1729+1G>T; p.?; |
eye; uveal_tract | malignant_melanoma; spindle |
c.188C>G; p.S63C; 3:52417597-52417597 |
eye; uveal_tract | malignant_melanoma; mixed |
c.256-2A>C; p.?; |
eye; uveal_tract | malignant_melanoma; mixed |
c.518A>G; p.Y173C; |
eye; uveal_tract | malignant_melanoma; mixed |
c.?; p.P510fs*61; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.971delC; p.P324fs*11; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.383G>T; p.G128V; 3:52416509-52416509 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.38G>T; p.G13V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.239_239delT; p.M80fs*7; 3:52417546-52417546 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.29G>A; p.S10N; 3:52418906-52418906 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2000G>A; p.R667K; 3:52411714-52411714 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.438-1G>A; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.645_645delC; p.L216fs*15; 3:52415899-52415899 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3G>A; p.M1I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6_7insAT; p.K3fs*70; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2101C>T; p.R701C; 3:52411433-52411433 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2134C>T; p.Q712*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1787_1806del20; p.S597fs*39; 3:52412278-52412297 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.382G>T; p.G128*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.21_32del12; p.E7_S10delELES; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2110_2111insG; p.V704fs*13; 3:52411423-52411424 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.97T>G; p.Y33D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1793delC; p.P598fs*19; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2188T>G; p.*730G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1981A>T; p.K661*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.851A>G; p.E284G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1701_1702insCT; p.G568fs*4; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.34C>A; p.P12T; |
pancreas | carcinoma; acinar_carcinoma |
c.56_58delTGG; p.V19delV; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1031A>G; p.N344S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1831_1834delGAGA; p.E611fs*5; |
eye; uveal_tract | malignant_melanoma; spindle |
c.915_916insTG; p.E306fs*30; |
eye; uveal_tract | malignant_melanoma; mixed |
c.91G>A; p.E31K; |
eye; uveal_tract | malignant_melanoma; spindle |
c.655delG; p.A219fs*12; |
eye; uveal_tract | malignant_melanoma; spindle |
c.709C>T; p.R237C; |
oesophagus | carcinoma; adenocarcinoma |
c.1762C>A; p.P588T; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.368G>C; p.S123T; |
oesophagus | carcinoma; adenocarcinoma |
c.1558T>C; p.S520P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1946G>A; p.C649Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.170_170delG; p.S58fs*14; 3:52417615-52417615 |
pleura | mesothelioma |
c.2137C>T; p.R713W; |
liver | carcinoma |
c.781C>T; p.Q261*; 3:52415311-52415311 |
breast | carcinoma; ductal_carcinoma |
c.807_808insAG; p.L270fs*2; |
liver | carcinoma |
c.1251-7C>A; p.?; |
liver | carcinoma |
c.1550C>T; p.T517M; |
large_intestine; colon | carcinoma |
c.449_467del19; p.H151fs*30; 3:52416343-52416361 |
pleura | mesothelioma; epithelial |
c.2054A>T; p.E685V; 3:52411660-52411660 |
pleura | mesothelioma |
c.1508delT; p.F503fs*68; |
liver | carcinoma |
c.2073delA; p.V692fs*>38; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.71T>A; p.V24D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2041_2042insT; p.M681fs*36; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.512T>A; p.V171D; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.851_858delAGTCCAAG; p.E284fs*20; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1259_1260insTAGGG; p.K421fs*11; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2077G>T; p.E693*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.299_315del17; p.L100fs*20; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1358_1359delAA; p.K453fs*15; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1573_1580delTCCCACAT; p.S525fs*9; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1_2190del2190; p.0?; |
pleura | mesothelioma; epithelial |
c.1441_1442insA; p.H481fs*11; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1306C>T; p.Q436*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.680G>A; p.R227H; |
prostate | carcinoma |
c.1168C>A; p.P390T; |
lung | carcinoma; adenocarcinoma |
c.680G>C; p.R227P; |
lung | carcinoma; adenocarcinoma |
c.102_111del10; p.D34fs*35; |
lung | carcinoma; adenocarcinoma |
c.419C>T; p.A140V; |
lung | carcinoma; adenocarcinoma |
c.576C>T; p.D192D; |
lung | carcinoma; adenocarcinoma |
c.1081C>G; p.L361V; |
lung | carcinoma; adenocarcinoma |
c.404C>G; p.P135R; |
lung | carcinoma; adenocarcinoma |
c.2T>C; p.M1T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.916G>T; p.E306*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.256-1G>A; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.661delG; p.E221fs*10; |
skin; eye | malignant_melanoma |
c.1_2190del2190; p.0?; |
pleura | mesothelioma; epithelial |
c.1_2190del2190; p.0?; |
pleura | mesothelioma; epithelial |
c.1_2190del2190; p.0?; |
pleura | mesothelioma; epithelial |
c.700_702delGTG; p.V234del; 3:52415390-52415392 |
pleura | mesothelioma; epithelial |
c.1_2190del2190; p.0?; |
pleura | mesothelioma; epithelial |
c.1379C>G; p.S460*; 3:52412822-52412822 |
pleura | mesothelioma; epithelial |
c.1_375del375; p.M1_E125del; |
pleura | mesothelioma; epithelial |
c.1_375del375; p.M1_E125del; |
pleura | mesothelioma; epithelial |
c.436_436A>CG; p.P147fs*8; 3:52416456-52416456 |
pleura | mesothelioma; epithelial |
c.784_2190del1407; p.L262_*730del; |
pleura | mesothelioma; epithelial |
c.518A>C; p.Y173S; 3:52416292-52416292 |
pleura | mesothelioma; biphasic |
c.778C>T; p.Q260*; 3:52415314-52415314 |
pleura | mesothelioma |
c.581-?_659+?del; p.?; 3:52415885-52415963 |
pleura | mesothelioma |
c.581-?_659+?del; p.?; 3:52415885-52415963 |
pleura | mesothelioma |
c.784-?_1890+?del; p.?; |
pleura | mesothelioma |
c.38-?_2190+?del; p.?; |
pleura | mesothelioma |
c.188C>G; p.S63C; 3:52417597-52417597 |
pleura | mesothelioma |
c.581-?_659+?del; p.?; 3:52415885-52415963 |
pleura | mesothelioma |
c.719_723delAGTAT; p.K240fs*42; 3:52415369-52415373 |
pleura | mesothelioma |
c.1891-?_2190+?del; p.?; |
pleura | mesothelioma |
c.1-?_255+?del; p.?; |
pleura | mesothelioma |
c.38-?_122+?del; p.?; |
pleura | mesothelioma |
c.376-?_580+?del; p.?; |
pleura | mesothelioma |
c.1730-?_1890+?del; p.?; 3:52412194-52412354 |
pleura | mesothelioma |
c.1117-?_1250+?del; p.?; |
pleura | mesothelioma |
c.38-?_1890+?del; p.?; |
pleura | mesothelioma |
c.38-?_931+?del; p.?; |
pleura | mesothelioma |
c.38-?_255+?del; p.?; |
pleura | mesothelioma |
c.376-?_580+?del; p.?; |
pleura | mesothelioma |
c.38-?_1250+?del; p.?; |
pleura | mesothelioma |
c.376-?_1116+?del; p.?; |
pleura | mesothelioma |
c.38-?_2190+?del; p.?; |
pleura | mesothelioma |
c.2057G>A; p.G686D; 3:52411477-52411477 |
pleura | mesothelioma |
c.38-?_1983+?del; p.?; |
pleura | mesothelioma |
c.2057-?_2190+?del; p.?; |
pleura | mesothelioma |
c.1538C>G; p.S513*; 3:52412663-52412663 |
pleura | mesothelioma |
c.660-?_783+?del; p.?; |
pleura | mesothelioma |
c.256-?_375+?del; p.?; 3:52417014-52417133 |
pleura | mesothelioma |
c.660-?_783+?del; p.?; |
pleura | mesothelioma |
c.1117-?_1250+?del; p.?; |
pleura | mesothelioma |
c.581-?_659+?del; p.?; 3:52415885-52415963 |
pleura | mesothelioma |
c.1251-?_1729+?del; p.?; |
pleura | mesothelioma |
c.1891-?_2056+?del; p.?; |
pleura | mesothelioma |
c.581-?_659+?del; p.?; 3:52415885-52415963 |
pleura | mesothelioma |
c.1117-?_1890+?del; p.?; |
pleura | mesothelioma |
c.1-?_122+?del; p.?; |
pleura | mesothelioma |
c.1891-?_2056+?del; p.?; |
pleura | mesothelioma |
c.1-?_122+?del; p.?; |
pleura | mesothelioma |
c.1965_1966delGA; p.K656fs*7; 3:52411852-52411853 |
pleura | mesothelioma |
c.581-?_659+?del; p.?; 3:52415885-52415963 |
pleura | mesothelioma |
c.160G>T; p.E54*; 3:52417625-52417625 |
pleura | mesothelioma |
c.284C>A; p.A95D; 3:52417105-52417105 |
pleura | mesothelioma |
c.284C>A; p.A95D; 3:52417105-52417105 |
pleura | mesothelioma; epithelial |
c.438-24_438-2del; p.?; 3:52416374-52416396 |
pleura | mesothelioma |
c.438-19_441del23; p.?; 3:52416369-52416391 |
pleura | mesothelioma; epithelial |
c.354_354delC; p.F118fs*69; 3:52417035-52417035 |
pleura | mesothelioma |
c.966_978del13; p.P324fs*7; 3:52414304-52414316 |
pleura | mesothelioma |
c.316G>A; p.V106M; |
ovary | carcinoma; serous_carcinoma |
c.508T>G; p.F170V; |
prostate | carcinoma |
c.838C>T; p.Q280*; |
breast | carcinoma |
c.673G>A; p.D225N; |
NS | NS |
c.788_789insT; p.R264fs*20; |
liver | carcinoma |
c.586T>G; p.W196G; |
liver | carcinoma |
c.1574C>G; p.S525C; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1023_1023delC; p.S341fs*21; 3:52414259-52414259 |
pleura | mesothelioma; epithelial |
c.2047_2056+19del29; p.?; 3:52411639-52411667 |
pleura | mesothelioma; biphasic |
c.700_700delG; p.V234fs*15; 3:52415392-52415392 |
pleura | mesothelioma; epithelial |
c.1497_1497delC; p.I499fs*72; 3:52412704-52412704 |
pleura | mesothelioma; epithelial |
c.2095_2096delCG; p.R699fs*17; 3:52411438-52411439 |
pleura | mesothelioma; epithelial |
c.870delC; p.N290fs*45; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.193delT; p.L65fs*7; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.430C>A; p.H144N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.38G>T; p.G13V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1256delA; p.K419fs*11; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.128T>G; p.V43G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2028_2046del19; p.C676fs*10; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.283G>C; p.A95P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.889G>T; p.E297*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.58G>T; p.E20*; 3:52418779-52418779 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.510T>A; p.F170L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2051delA; p.Q684fs*8; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1271_1274delGGAA; p.K425fs*4; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2188T>A; p.*730?; 3:52411346-52411346 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.458delC; p.P153fs*34; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.335T>C; p.L112P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2050C>T; p.Q684*; 3:52411664-52411664 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.679C>T; p.R227C; 3:52415413-52415413 |
ovary | carcinoma; serous_carcinoma |
c.679C>T; p.R227C; 3:52415413-52415413 |
ovary | carcinoma; serous_carcinoma |
c.680G>A; p.R227H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1863_1864CT>TA; p.L622M; |
lung | carcinoma; adenocarcinoma |
c.535C>T; p.R179W; |
lung | carcinoma; adenocarcinoma |
c.51G>T; p.L17L; |
lung | carcinoma; squamous_cell_carcinoma |
c.253C>T; p.Q85*; |
lung | carcinoma; adenocarcinoma |
c.1018G>A; p.G340S; |
lung | carcinoma; adenocarcinoma |
c.145C>G; p.L49V; |
breast | carcinoma |
c.1856G>A; p.G619D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.271T>C; p.C91R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1338C>T; p.N446N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1534C>T; p.R512C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.120G>A; p.Q40Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1809C>T; p.V603V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.558G>A; p.L186L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.896A>G; p.N299S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.224A>G; p.D75G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1069C>A; p.L357M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2056G>T; p.G686C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1944G>A; p.A648A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1195G>A; p.D399N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.129A>G; p.V43V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2099G>A; p.R700Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.106C>T; p.Q36*; 3:52418626-52418626 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1486G>A; p.A496T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2055A>G; p.E685E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.784-2A>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1153C>T; p.R385*; 3:52413606-52413606 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.814C>T; p.Q272*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.587G>A; p.W196*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.273T>C; p.C91C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.936T>G; p.G312G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.29G>C; p.S10T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.799C>T; p.Q267*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.757C>T; p.Q253*; 3:52415335-52415335 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1379C>G; p.S460*; 3:52412822-52412822 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1A>G; p.M1V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.508T>G; p.F170V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.233A>G; p.N78S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1809C>T; p.V603V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.93G>T; p.E31D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1642C>T; p.R548C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.631A>G; p.M211V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1484C>T; p.T495M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1881C>G; p.Y627*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.67+1G>A; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.599A>G; p.E200G; |
breast | carcinoma |
c.836C>A; p.S279*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1078T>C; p.F360L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3G>A; p.M1I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3G>A; p.M1I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1226T>C; p.V409A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1973A>G; p.K658R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.233A>G; p.N78S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.118C>T; p.Q40*; 3:52418614-52418614 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.466C>T; p.Q156*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.92A>C; p.E31A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1876A>T; p.K626*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.187T>C; p.S63P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.757C>A; p.Q253K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.784-2A>T; p.?; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.187T>C; p.S63P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.273T>C; p.C91C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.673G>C; p.D225H; |
urinary_tract; bladder | carcinoma |
c.50T>C; p.L17P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.122+2T>A; p.?; 3:52418608-52418608 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.509T>G; p.F170C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.932-1G>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1973A>G; p.K658R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.619C>T; p.R207W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2010_2035del26; p.Y671fs*37; |
breast | carcinoma |
c.141C>G; p.I47M; |
urinary_tract; bladder | carcinoma |
c.2152C>T; p.R718W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2149C>T; p.R717W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2188T>C; p.*730R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1182C>T; p.Y394Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1974G>A; p.K658K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1973A>G; p.K658R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.241T>C; p.F81L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.242T>C; p.F81S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1012C>T; p.P338S; |
urinary_tract; bladder | carcinoma |
c.1987G>C; p.D663H; |
urinary_tract; bladder | carcinoma |
c.1968G>C; p.K656N; |
urinary_tract; bladder | carcinoma |
c.2110delG; p.V704fs*>26; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.430delC; p.H144fs*43; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.354_354delC; p.F118fs*69; 3:52417035-52417035 |
pleura | mesothelioma |
c.214_238del25; p.I72fs*7; 3:52417547-52417571 |
pleura | mesothelioma; epithelial |
c.88G>T; p.E30*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1730-9_1732deltcttcccagAGG; p.?; |
prostate | carcinoma |
c.934G>T; p.G312C; |
prostate | carcinoma |
c.358A>T; p.K120*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1357A>G; p.K453E; |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II |
c.1357A>G; p.K453E; |
central_nervous_system; temporal_lobe | glioma; astrocytoma_Grade_II |
c.168_179del12; p.R57_R60delRSRR; |
skin | malignant_melanoma |
c.1547C>T; p.P516L; |
skin | malignant_melanoma |
c.455_456delTC; p.L152fs*2; |
skin | malignant_melanoma |
c.178C>T; p.R60*; 3:52417607-52417607 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.29G>A; p.S10N; 3:52418906-52418906 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.152A>T; p.K51I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.155_158delGGAT; p.W52fs*19; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.271T>G; p.C91G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.92A>T; p.E31V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.689T>A; p.L230Q; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1252delT; p.Y418fs*12; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2072delT; p.L691fs*>39; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.38-1_38delgG; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.860C>G; p.S287*; 3:52414892-52414892 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |