| Gene ID | 5978 |
| Symbol | REST |
| Synonymous | NRSF|XBR |
| Full name | RE1-silencing transcription factor |
| Gene description | RE1-silencing transcription factor variant E1a/E2/E3/E4c|RE1-silencing transcription factor variant E1a/E2/E3/E5|RE1-silencing transcription factor variant E1a/E2/E3/N3a/E4i|RE1-silencing transcription factor variant E1a/E2/E3/N3c/E4|RE1-silencing transcr |
| Cytoband | 4q12 |
| Gene type | protein-coding |
| Synonymous | MIM:600571; HGNC:HGNC:9966; Ensembl:ENSG00000084093; HPRD:08990; Vega:OTTHUMG00000128770 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.313G>T; p.G105*; 4:56910951-56910951 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.2284A>C; p.K762Q; 4:56931142-56931142 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.358G>C; p.E120Q; 4:56910996-56910996 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2284A>C; p.K762Q; 4:56931142-56931142 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.677A>G; p.N226S; 4:56911315-56911315 |
liver | carcinoma | Substitution - Missense |
c.953A>G; p.H318R; 4:56919841-56919841 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2638C>T; p.Q880*; 4:56931496-56931496 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1344A>G; p.I448M; 4:56930202-56930202 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1396G>A; p.V466I; 4:56930254-56930254 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1396G>A; p.V466I; 4:56930254-56930254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.983-9T>G; p.?; 4:56929832-56929832 |
liver | carcinoma | Unknown |
c.2293C>A; p.L765M; 4:56931151-56931151 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1726delA; p.S578fs*7; 4:56930584-56930584 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2708A>C; p.D903A; 4:56931566-56931566 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1726delA; p.S578fs*7; 4:56930584-56930584 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.325A>T; p.M109L; 4:56910963-56910963 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.2726T>G; p.L909R; 4:56931584-56931584 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1436C>T; p.P479L; 4:56930294-56930294 |
skin | malignant_melanoma | Substitution - Missense |
c.3131G>A; p.R1044K; 4:56931989-56931989 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2213A>G; p.E738G; 4:56931071-56931071 |
breast | carcinoma | Substitution - Missense |
c.2241A>G; p.I747M; 4:56931099-56931099 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2241A>G; p.I747M; 4:56931099-56931099 |
liver | carcinoma | Substitution - Missense |
c.2241A>G; p.I747M; 4:56931099-56931099 |
liver | carcinoma | Substitution - Missense |
c.2241A>G; p.I747M; 4:56931099-56931099 |
liver | carcinoma | Substitution - Missense |
c.2241A>G; p.I747M; 4:56931099-56931099 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2960A>G; p.K987R; 4:56931818-56931818 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2241A>G; p.I747M; 4:56931099-56931099 |
prostate | carcinoma | Substitution - Missense |
c.2241A>G; p.I747M; 4:56931099-56931099 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2241A>G; p.I747M; 4:56931099-56931099 |
liver | carcinoma | Substitution - Missense |
c.2241A>G; p.I747M; 4:56931099-56931099 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2971G>A; p.A991T; 4:56931829-56931829 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3242G>A; p.R1081H; 4:56932100-56932100 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.367C>G; p.P123A; 4:56911005-56911005 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2930C>T; p.S977L; 4:56931788-56931788 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.2930C>T; p.S977L; 4:56931788-56931788 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.953A>T; p.H318L; 4:56919841-56919841 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1141G>C; p.E381Q; 4:56929999-56929999 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1460A>T; p.Q487L; 4:56930318-56930318 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2207C>T; p.P736L; 4:56931065-56931065 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2550T>C; p.L850L; 4:56931408-56931408 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3254A>G; p.N1085S; 4:56932112-56932112 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3055C>T; p.L1019L; 4:56931913-56931913 |
skin | malignant_melanoma | Substitution - coding silent |
c.1081C>T; p.L361F; 4:56929939-56929939 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.19G>A; p.G7R; 4:56910657-56910657 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.669C>A; p.Y223*; 4:56911307-56911307 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.669C>A; p.Y223*; 4:56911307-56911307 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.1934G>A; p.R645Q; 4:56930792-56930792 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1778G>A; p.S593N; 4:56930636-56930636 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1934G>A; p.R645Q; 4:56930792-56930792 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1439C>T; p.S480F; 4:56930297-56930297 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1439C>T; p.S480F; 4:56930297-56930297 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1934G>A; p.R645Q; 4:56930792-56930792 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.980C>G; p.S327*; 4:56919868-56919868 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2291A>T; p.E764V; 4:56931149-56931149 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3257T>C; p.V1086A; 4:56932115-56932115 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1912C>G; p.Q638E; 4:56930770-56930770 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1638G>A; p.K546K; 4:56930496-56930496 |
liver | carcinoma | Substitution - coding silent |
c.2902G>T; p.E968*; 4:56931760-56931760 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3165G>A; p.A1055A; 4:56932023-56932023 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1638G>A; p.K546K; 4:56930496-56930496 |
liver | carcinoma | Substitution - coding silent |
c.1128C>A; p.F376L; 4:56929986-56929986 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1141G>T; p.E381*; 4:56929999-56929999 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2248T>A; p.S750T; 4:56931106-56931106 |
skin | malignant_melanoma | Substitution - Missense |
c.3173G>A; p.G1058E; 4:56932031-56932031 |
pancreas | carcinoma | Substitution - Missense |
c.2230C>T; p.P744S; 4:56931088-56931088 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.3121G>T; p.E1041*; 4:56931979-56931979 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1888C>T; p.P630S; 4:56930746-56930746 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2254C>A; p.P752T; 4:56931112-56931112 |
skin | malignant_melanoma | Substitution - Missense |
c.2254C>A; p.P752T; 4:56931112-56931112 |
skin | malignant_melanoma | Substitution - Missense |
c.2076G>T; p.E692D; 4:56930934-56930934 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2076G>T; p.E692D; 4:56930934-56930934 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.220G>A; p.A74T; 4:56910858-56910858 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.680G>A; p.R227Q; 4:56911318-56911318 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2259_2306del48; p.M753_P768del16; 4:56931117-56931164 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic | Deletion - In frame |
c.1740G>C; p.K580N; 4:56930598-56930598 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2110G>C; p.A704P; 4:56930968-56930968 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2110G>C; p.A704P; 4:56930968-56930968 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2459A>C; p.K820T; 4:56931317-56931317 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.421C>T; p.P141S; 4:56911059-56911059 |
skin | malignant_melanoma | Substitution - Missense |
c.314G>T; p.G105V; 4:56910952-56910952 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2695G>A; p.A899T; 4:56931553-56931553 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.265G>T; p.E89*; 4:56910903-56910903 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2695G>A; p.A899T; 4:56931553-56931553 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1912C>T; p.Q638*; 4:56930770-56930770 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1270A>G; p.K424E; 4:56930128-56930128 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.8C>T; p.T3I; 4:56910646-56910646 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.444G>A; p.E148E; 4:56911082-56911082 |
skin | malignant_melanoma | Substitution - coding silent |
c.904C>T; p.R302C; 4:56919792-56919792 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.236T>C; p.V79A; 4:56910874-56910874 |
skin | malignant_melanoma | Substitution - Missense |
c.2158C>A; p.P720T; 4:56931016-56931016 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2229G>A; p.E743E; 4:56931087-56931087 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.778G>T; p.E260*; 4:56911416-56911416 |
breast | carcinoma | Substitution - Nonsense |
c.2087C>G; p.T696R; 4:56930945-56930945 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2938G>A; p.E980K; 4:56931796-56931796 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.2077A>C; p.T693P; 4:56930935-56930935 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.552G>T; p.K184N; 4:56911190-56911190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.552G>T; p.K184N; 4:56911190-56911190 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2406G>A; p.E802E; 4:56931264-56931264 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2006C>T; p.P669L; 4:56930864-56930864 |
skin | malignant_melanoma | Substitution - Missense |
c.2444C>A; p.P815H; 4:56931302-56931302 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2193G>T; p.M731I; 4:56931051-56931051 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1225A>G; p.K409E; 4:56930083-56930083 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1786C>A; p.P596T; 4:56930644-56930644 |
pancreas | carcinoma | Substitution - Missense |
c.602C>T; p.S201F; 4:56911240-56911240 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.602C>T; p.S201F; 4:56911240-56911240 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1681G>A; p.G561S; 4:56930539-56930539 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3149C>T; p.A1050V; 4:56932007-56932007 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2432C>T; p.S811F; 4:56931290-56931290 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2159C>T; p.P720L; 4:56931017-56931017 |
skin | malignant_melanoma | Substitution - Missense |
c.1520G>A; p.G507E; 4:56930378-56930378 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.407C>T; p.S136L; 4:56911045-56911045 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2962A>C; p.T988P; 4:56931820-56931820 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.2806G>T; p.G936C; 4:56931664-56931664 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2891C>A; p.S964*; 4:56931749-56931749 |
liver | carcinoma | Substitution - Nonsense |
c.478C>T; p.R160C; 4:56911116-56911116 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.814C>T; p.P272S; 4:56911452-56911452 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2153C>A; p.S718Y; 4:56931011-56931011 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3035A>T; p.H1012L; 4:56931893-56931893 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3035A>T; p.H1012L; 4:56931893-56931893 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2957C>T; p.S986F; 4:56931815-56931815 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.722C>T; p.A241V; 4:56911360-56911360 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1679A>C; p.K560T; 4:56930537-56930537 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1874C>T; p.P625L; 4:56930732-56930732 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2455G>T; p.D819Y; 4:56931313-56931313 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.446A>G; p.D149G; 4:56911084-56911084 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.262G>A; p.E88K; 4:56910900-56910900 |
skin | malignant_melanoma | Substitution - Missense |
c.3150C>G; p.A1050A; 4:56932008-56932008 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2326C>G; p.P776A; 4:56931184-56931184 |
thyroid | other; neoplasm | Substitution - Missense |
c.786C>T; p.H262H; 4:56911424-56911424 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.658C>T; p.R220C; 4:56911296-56911296 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2759C>T; p.S920L; 4:56931617-56931617 |
skin | malignant_melanoma | Substitution - Missense |
c.2943A>C; p.E981D; 4:56931801-56931801 |
prostate | carcinoma | Substitution - Missense |
c.2370G>T; p.K790N; 4:56931228-56931228 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1745A>T; p.K582I; 4:56930603-56930603 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.878A>G; p.Q293R; 4:56911516-56911516 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1883T>G; p.V628G; 4:56930741-56930741 |
breast | carcinoma | Substitution - Missense |
c.1441A>G; p.N481D; 4:56930299-56930299 |
ovary | other; neoplasm | Substitution - Missense |
c.1412G>T; p.R471I; 4:56930270-56930270 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1598C>T; p.P533L; 4:56930456-56930456 |
skin | malignant_melanoma | Substitution - Missense |
c.2836G>T; p.E946*; 4:56931694-56931694 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.352G>A; p.V118I; 4:56910990-56910990 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3045A>G; p.E1015E; 4:56931903-56931903 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3263A>G; p.Y1088C; 4:56932121-56932121 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2255C>T; p.P752L; 4:56931113-56931113 |
skin | malignant_melanoma | Substitution - Missense |
c.2255C>T; p.P752L; 4:56931113-56931113 |
skin | malignant_melanoma | Substitution - Missense |
c.2783C>T; p.T928M; 4:56931641-56931641 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.769A>G; p.T257A; 4:56911407-56911407 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2533G>A; p.V845I; 4:56931391-56931391 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2743G>A; p.E915K; 4:56931601-56931601 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3175G>T; p.D1059Y; 4:56932033-56932033 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2259G>A; p.M753I; 4:56931117-56931117 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2259G>A; p.M753I; 4:56931117-56931117 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.509C>G; p.S170C; 4:56911147-56911147 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.810delT; p.P272fs*48; 4:56911448-56911448 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.971G>A; p.R324H; 4:56919859-56919859 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2259G>A; p.M753I; 4:56931117-56931117 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1716T>C; p.N572N; 4:56930574-56930574 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.351C>T; p.S117S; 4:56910989-56910989 |
liver | carcinoma | Substitution - coding silent |
c.2087C>T; p.T696M; 4:56930945-56930945 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2887A>C; p.N963H; 4:56931745-56931745 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046G>A; p.R349H; 4:56929904-56929904 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.746A>C; p.K249T; 4:56911384-56911384 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3003G>A; p.E1001E; 4:56931861-56931861 |
liver | carcinoma | Substitution - coding silent |
c.2802A>C; p.L934F; 4:56931660-56931660 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.412A>T; p.K138*; 4:56911050-56911050 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1345G>A; p.E449K; 4:56930203-56930203 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.898+7G>A; p.?; 4:56911543-56911543 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2515G>T; p.E839*; 4:56931373-56931373 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1943C>T; p.P648L; 4:56930801-56930801 |
skin | malignant_melanoma | Substitution - Missense |
c.1865A>G; p.Q622R; 4:56930723-56930723 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2449C>T; p.R817*; 4:56931307-56931307 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1602G>T; p.V534V; 4:56930460-56930460 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1865A>G; p.Q622R; 4:56930723-56930723 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2193G>A; p.M731I; 4:56931051-56931051 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2193G>A; p.M731I; 4:56931051-56931051 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2275G>T; p.E759*; 4:56931133-56931133 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1496T>A; p.V499E; 4:56930354-56930354 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1395C>T; p.S465S; 4:56930253-56930253 |
skin | malignant_melanoma | Substitution - coding silent |
c.3215G>A; p.G1072E; 4:56932073-56932073 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3010G>A; p.E1004K; 4:56931868-56931868 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2231C>T; p.P744L; 4:56931089-56931089 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2046T>C; p.L682L; 4:56930904-56930904 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2008G>A; p.V670M; 4:56930866-56930866 |
stomach | adenocarcinoma | Substitution - Missense |
c.1275G>A; p.V425V; 4:56930133-56930133 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2104G>C; p.G702R; 4:56930962-56930962 |
ovary | other; neoplasm | Substitution - Missense |
c.2450G>A; p.R817Q; 4:56931308-56931308 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2076G>A; p.E692E; 4:56930934-56930934 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1114G>C; p.D372H; 4:56929972-56929972 |
breast | carcinoma | Substitution - Missense |
c.2450G>A; p.R817Q; 4:56931308-56931308 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.745A>G; p.K249E; 4:56911383-56911383 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2414T>G; p.L805R; 4:56931272-56931272 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3079A>G; p.S1027G; 4:56931937-56931937 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2414T>G; p.L805R; 4:56931272-56931272 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.2794G>A; p.E932K; 4:56931652-56931652 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1832C>T; p.P611L; 4:56930690-56930690 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2794G>A; p.E932K; 4:56931652-56931652 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.282A>G; p.E94E; 4:56910920-56910920 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3241C>T; p.R1081C; 4:56932099-56932099 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1948G>A; p.E650K; 4:56930806-56930806 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3241C>T; p.R1081C; 4:56932099-56932099 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3241C>T; p.R1081C; 4:56932099-56932099 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1623delA; p.K543fs*5; 4:56930481-56930481 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2782A>G; p.T928A; 4:56931640-56931640 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1416T>A; p.D472E; 4:56930274-56930274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2253T>C; p.P751P; 4:56931111-56931111 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2941G>C; p.E981Q; 4:56931799-56931799 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1859C>A; p.A620E; 4:56930717-56930717 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.630T>C; p.D210D; 4:56911268-56911268 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2390C>T; p.P797L; 4:56931248-56931248 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2390C>T; p.P797L; 4:56931248-56931248 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2390C>T; p.P797L; 4:56931248-56931248 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2100A>C; p.Q700H; 4:56930958-56930958 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.760_763delACAT; p.Y255fs*3; 4:56911398-56911401 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.2390C>T; p.P797L; 4:56931248-56931248 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2390C>T; p.P797L; 4:56931248-56931248 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2390C>T; p.P797L; 4:56931248-56931248 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |