| General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction |
Basic Information | |||
|---|---|---|---|
Gene ID | 23314 | ||
Name | SATB2 | ||
The somatic mutations from COSMIC database | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1105A>G; p.R369G; 2:199348769-199348769 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.915A>G; p.Q305Q; 2:199348959-199348959 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1662C>T; p.V554V; 2:199308838-199308838 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.55G>T; p.G19C; 2:199455983-199455983 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.476G>T; p.C159F; 2:199380485-199380485 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.300G>A; p.A100A; 2:199433384-199433384 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1662C>T; p.V554V; 2:199308838-199308838 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1332T>C; p.N444N; 2:199328752-199328752 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1749T>C; p.H583H; 2:199272664-199272664 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1873G>T; p.A625S; 2:199272540-199272540 |
pleura | pulmonary_blastoma | Substitution - Missense |
c.1719G>A; p.Q573Q; 2:199308781-199308781 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1237G>T; p.V413L; 2:199328847-199328847 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.751C>G; p.R251G; 2:199349123-199349123 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.1364C>T; p.P455L; 2:199328720-199328720 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.82C>T; p.P28S; 2:199455956-199455956 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2185G>A; p.E729K; 2:199272228-199272228 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.745G>T; p.G249C; 2:199349129-199349129 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1782C>T; p.S594S; 2:199272631-199272631 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1782C>T; p.S594S; 2:199272631-199272631 |
skin | malignant_melanoma | Substitution - coding silent |
c.1291C>T; p.R431C; 2:199328793-199328793 |
skin | malignant_melanoma | Substitution - Missense |
c.1005C>T; p.I335I; 2:199348869-199348869 |
skin | malignant_melanoma | Substitution - coding silent |
c.1627C>T; p.R543C; 2:199308873-199308873 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1627C>T; p.R543C; 2:199308873-199308873 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.975G>A; p.R325R; 2:199348899-199348899 |
skin | malignant_melanoma | Substitution - coding silent |
c.1474C>T; p.Q492*; 2:199323871-199323871 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1210C>A; p.P404T; 2:199328874-199328874 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1458delC; p.I487fs*9; 2:199323887-199323887 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1196G>A; p.R399H; 2:199328888-199328888 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1196G>A; p.R399H; 2:199328888-199328888 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.1263C>T; p.F421F; 2:199328821-199328821 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1263C>T; p.F421F; 2:199328821-199328821 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2021G>T; p.G674V; 2:199272392-199272392 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.249G>C; p.E83D; 2:199433435-199433435 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.233G>C; p.R78T; 2:199433451-199433451 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1761T>A; p.S587S; 2:199272652-199272652 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.689A>C; p.K230T; 2:199368616-199368616 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2005C>T; p.H669Y; 2:199272408-199272408 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.420C>T; p.A140A; 2:199381747-199381747 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1696G>A; p.E566K; 2:199308804-199308804 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1804C>T; p.P602S; 2:199272609-199272609 |
skin | malignant_melanoma | Substitution - Missense |
c.715C>T; p.R239*; 2:199349159-199349159 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.869A>T; p.Q290L; 2:199349005-199349005 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1115T>C; p.L372P; 2:199348759-199348759 |
ovary | carcinoma | Substitution - Missense |
c.215C>T; p.S72F; 2:199433469-199433469 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.527G>T; p.R176L; 2:199380434-199380434 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1594C>T; p.R532C; 2:199308906-199308906 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.896C>G; p.S299C; 2:199348978-199348978 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1004T>C; p.I335T; 2:199348870-199348870 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.394A>C; p.T132P; 2:199381773-199381773 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.430C>A; p.Q144K; 2:199381737-199381737 |
thyroid | other; neoplasm | Substitution - Missense |
c.1358G>A; p.S453N; 2:199328726-199328726 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1901A>G; p.H634R; 2:199272512-199272512 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2140G>A; p.E714K; 2:199272273-199272273 |
skin; leg | malignant_melanoma; nodular | Substitution - Missense |
c.2028G>A; p.L676L; 2:199272385-199272385 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.849A>C; p.R283R; 2:199349025-199349025 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.1316G>A; p.R439Q; 2:199328768-199328768 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2033A>C; p.E678A; 2:199272380-199272380 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2048C>T; p.A683V; 2:199272365-199272365 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1999C>T; p.R667W; 2:199272414-199272414 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.559A>C; p.N187H; 2:199380402-199380402 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2048C>T; p.A683V; 2:199272365-199272365 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1504C>G; p.Q502E; 2:199323841-199323841 |
breast | carcinoma | Substitution - Missense |
c.741T>C; p.V247V; 2:199349133-199349133 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2025G>T; p.K675N; 2:199272388-199272388 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.672A>G; p.R224R; 2:199368633-199368633 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1056G>T; p.E352D; 2:199348818-199348818 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.406G>A; p.D136N; 2:199381761-199381761 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.406G>A; p.D136N; 2:199381761-199381761 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1032C>T; p.P344P; 2:199348842-199348842 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1314G>A; p.E438E; 2:199328770-199328770 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.580G>A; p.E194K; 2:199380381-199380381 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1455T>C; p.A485A; 2:199323890-199323890 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.397G>T; p.D133Y; 2:199381770-199381770 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.361G>T; p.G121*; 2:199381806-199381806 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2175A>C; p.A725A; 2:199272238-199272238 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1443C>T; p.I481I; 2:199323902-199323902 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.473+1G>T; p.?; 2:199381693-199381693 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1064A>G; p.N355S; 2:199348810-199348810 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2151G>A; p.E717E; 2:199272262-199272262 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.978C>T; p.L326L; 2:199348896-199348896 |
skin | malignant_melanoma | Substitution - coding silent |
c.1605G>T; p.W535C; 2:199308895-199308895 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2034G>C; p.E678D; 2:199272379-199272379 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1773G>A; p.K591K; 2:199272640-199272640 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1726C>A; p.P576T; 2:199308774-199308774 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.785C>T; p.A262V; 2:199349089-199349089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.279T>C; p.F93F; 2:199433405-199433405 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.660G>C; p.Q220H; 2:199368645-199368645 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1980C>G; p.I660M; 2:199272433-199272433 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1818G>A; p.P606P; 2:199272595-199272595 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.939G>T; p.M313I; 2:199348935-199348935 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2121C>T; p.S707S; 2:199272292-199272292 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.584G>A; p.C195Y; 2:199380377-199380377 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1435G>A; p.A479T; 2:199323910-199323910 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.407A>G; p.D136G; 2:199381760-199381760 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.900C>T; p.P300P; 2:199348974-199348974 |
skin | malignant_melanoma | Substitution - coding silent |
c.1072G>T; p.V358L; 2:199348802-199348802 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1700G>A; p.R567H; 2:199308800-199308800 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1257G>T; p.Q419H; 2:199328827-199328827 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1957G>A; p.D653N; 2:199272456-199272456 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2070G>A; p.K690K; 2:199272343-199272343 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2056G>C; p.V686L; 2:199272357-199272357 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1388C>G; p.A463G; 2:199323957-199323957 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1226A>G; p.Q409R; 2:199328858-199328858 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1774G>A; p.E592K; 2:199272639-199272639 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1986C>T; p.F662F; 2:199272427-199272427 |
skin | malignant_melanoma | Substitution - coding silent |
c.1270C>A; p.L424M; 2:199328814-199328814 |
oesophagus | carcinoma | Substitution - Missense |
c.700+2T>C; p.?; 2:199368603-199368603 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1260T>A; p.N420K; 2:199328824-199328824 |
skin | malignant_melanoma | Substitution - Missense |
c.1853G>T; p.R618L; 2:199272560-199272560 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1435G>T; p.A479S; 2:199323910-199323910 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1246A>G; p.R416G; 2:199328838-199328838 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.748C>A; p.Q250K; 2:199349126-199349126 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1147G>C; p.A383P; 2:199348727-199348727 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1710C>T; p.H570H; 2:199308790-199308790 |
large_intestine; rectum | NS | Substitution - coding silent |
c.1710C>T; p.H570H; 2:199308790-199308790 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1147G>C; p.A383P; 2:199348727-199348727 |
liver | carcinoma | Substitution - Missense |
c.2158G>A; p.A720T; 2:199272255-199272255 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2158G>A; p.A720T; 2:199272255-199272255 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.212G>T; p.G71V; 2:199433472-199433472 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1516G>A; p.A506T; 2:199323829-199323829 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.810G>T; p.Q270H; 2:199349064-199349064 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1432G>A; p.G478S; 2:199323913-199323913 |
breast | carcinoma | Substitution - Missense |
c.1281G>A; p.V427V; 2:199328803-199328803 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1281G>A; p.V427V; 2:199328803-199328803 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1735G>T; p.V579L; 2:199308765-199308765 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.262C>T; p.R88W; 2:199433422-199433422 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1817C>T; p.P606L; 2:199272596-199272596 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1045G>A; p.V349I; 2:199348829-199348829 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1453G>A; p.A485T; 2:199323892-199323892 |
prostate | carcinoma | Substitution - Missense |
c.1880G>C; p.G627A; 2:199272533-199272533 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1951C>T; p.Q651*; 2:199272462-199272462 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1919C>T; p.P640L; 2:199272494-199272494 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2032G>T; p.E678*; 2:199272381-199272381 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.2076G>T; p.E692D; 2:199272337-199272337 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1200G>T; p.K400N; 2:199328884-199328884 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1914G>T; p.L638L; 2:199272499-199272499 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1887C>A; p.L629L; 2:199272526-199272526 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2089G>A; p.E697K; 2:199272324-199272324 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1116G>A; p.L372L; 2:199348758-199348758 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.659A>C; p.Q220P; 2:199368646-199368646 |
skin | malignant_melanoma | Substitution - Missense |
c.751C>T; p.R251C; 2:199349123-199349123 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2023A>G; p.K675E; 2:199272390-199272390 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1826A>G; p.D609G; 2:199272587-199272587 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1176A>T; p.G392G; 2:199328908-199328908 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.210C>T; p.D70D; 2:199433474-199433474 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.580G>T; p.E194*; 2:199380381-199380381 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.580G>T; p.E194*; 2:199380381-199380381 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1881G>A; p.G627G; 2:199272532-199272532 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1881G>A; p.G627G; 2:199272532-199272532 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.80C>T; p.P27L; 2:199455958-199455958 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1072G>A; p.V358M; 2:199348802-199348802 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.332C>A; p.A111E; 2:199433352-199433352 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.326G>C; p.S109T; 2:199433358-199433358 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.294G>T; p.E98D; 2:199433390-199433390 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1453G>T; p.A485S; 2:199323892-199323892 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2000G>T; p.R667L; 2:199272413-199272413 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1665C>G; p.I555M; 2:199308835-199308835 |
breast | carcinoma | Substitution - Missense |
c.1978A>G; p.I660V; 2:199272435-199272435 |
pancreas | carcinoma | Substitution - Missense |
c.1978A>G; p.I660V; 2:199272435-199272435 |
pancreas | carcinoma | Substitution - Missense |
c.1073T>C; p.V358A; 2:199348801-199348801 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1073T>C; p.V358A; 2:199348801-199348801 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1217C>G; p.T406R; 2:199328867-199328867 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1052C>T; p.P351L; 2:199348822-199348822 |
skin | malignant_melanoma | Substitution - Missense |
c.2172G>A; p.K724K; 2:199272241-199272241 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.784G>A; p.A262T; 2:199349090-199349090 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.826A>T; p.I276F; 2:199349048-199349048 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2184C>T; p.A728A; 2:199272229-199272229 |
skin | malignant_melanoma | Substitution - coding silent |
c.1376G>A; p.R459Q; 2:199328708-199328708 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1879G>T; p.G627W; 2:199272534-199272534 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1946C>T; p.S649L; 2:199272467-199272467 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.595C>T; p.Q199*; 2:199380366-199380366 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1337G>T; p.S446I; 2:199328747-199328747 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.815C>T; p.P272L; 2:199349059-199349059 |
skin | malignant_melanoma | Substitution - Missense |
c.2120C>T; p.S707F; 2:199272293-199272293 |
skin | malignant_melanoma | Substitution - Missense |
c.1850C>T; p.S617F; 2:199272563-199272563 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2120C>T; p.S707F; 2:199272293-199272293 |
skin | malignant_melanoma | Substitution - Missense |
c.815C>T; p.P272L; 2:199349059-199349059 |
skin | malignant_melanoma | Substitution - Missense |
c.2120C>T; p.S707F; 2:199272293-199272293 |
skin | malignant_melanoma | Substitution - Missense |
c.815C>T; p.P272L; 2:199349059-199349059 |
skin | malignant_melanoma | Substitution - Missense |
c.1723C>T; p.P575S; 2:199308777-199308777 |
skin | malignant_melanoma | Substitution - Missense |
c.1882A>T; p.I628F; 2:199272531-199272531 |
breast | carcinoma | Substitution - Missense |
c.333G>A; p.A111A; 2:199433351-199433351 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1390A>G; p.K464E; 2:199323955-199323955 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.701-1G>T; p.?; 2:199349174-199349174 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1397C>T; p.S466L; 2:199323948-199323948 |
skin | malignant_melanoma | Substitution - Missense |
c.564G>T; p.Q188H; 2:199380397-199380397 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1891A>T; p.S631C; 2:199272522-199272522 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1725C>T; p.P575P; 2:199308775-199308775 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1474C>G; p.Q492E; 2:199323871-199323871 |
skin | malignant_melanoma | Substitution - Missense |
c.1710C>A; p.H570Q; 2:199308790-199308790 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1699C>T; p.R567C; 2:199308801-199308801 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1699C>T; p.R567C; 2:199308801-199308801 |
breast | carcinoma | Substitution - Missense |
c.603G>T; p.M201I; 2:199368702-199368702 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2072A>T; p.D691V; 2:199272341-199272341 |
breast | carcinoma | Substitution - Missense |
c.966C>T; p.A322A; 2:199348908-199348908 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1180T>G; p.L394V; 2:199328904-199328904 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.244G>A; p.A82T; 2:199433440-199433440 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1027C>A; p.P343T; 2:199348847-199348847 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1027C>A; p.P343T; 2:199348847-199348847 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1027C>A; p.P343T; 2:199348847-199348847 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1816C>T; p.P606S; 2:199272597-199272597 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1918C>T; p.P640S; 2:199272495-199272495 |
skin | malignant_melanoma | Substitution - Missense |
c.1927G>C; p.E643Q; 2:199272486-199272486 |
liver | carcinoma | Substitution - Missense |
c.1384C>T; p.Q462*; 2:199328700-199328700 |
breast | carcinoma | Substitution - Nonsense |
c.1927G>C; p.E643Q; 2:199272486-199272486 |
liver | carcinoma | Substitution - Missense |
c.1385A>G; p.Q462R; 2:199328699-199328699 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1818G>T; p.P606P; 2:199272595-199272595 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1292G>A; p.R431H; 2:199328792-199328792 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.75delG; p.P26fs*4; 2:199455963-199455963 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1404G>A; p.P468P; 2:199323941-199323941 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2104G>C; p.D702H; 2:199272309-199272309 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1853G>A; p.R618H; 2:199272560-199272560 |
breast | carcinoma | Substitution - Missense |
c.1986C>A; p.F662L; 2:199272427-199272427 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1800G>A; p.A600A; 2:199272613-199272613 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1503T>C; p.S501S; 2:199323842-199323842 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.364A>C; p.R122R; 2:199381803-199381803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.213C>G; p.G71G; 2:199433471-199433471 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1619C>A; p.T540N; 2:199308881-199308881 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.805G>A; p.E269K; 2:199349069-199349069 |
skin | malignant_melanoma | Substitution - Missense |
c.320C>A; p.S107Y; 2:199433364-199433364 |
thyroid | other; neoplasm | Substitution - Missense |
c.805G>A; p.E269K; 2:199349069-199349069 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.805G>A; p.E269K; 2:199349069-199349069 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.805G>A; p.E269K; 2:199349069-199349069 |
skin | malignant_melanoma | Substitution - Missense |
c.2122G>A; p.E708K; 2:199272291-199272291 |
skin | malignant_melanoma | Substitution - Missense |
c.1067C>A; p.S356Y; 2:199348807-199348807 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.681A>G; p.K227K; 2:199368624-199368624 |
pancreas | carcinoma | Substitution - coding silent |
c.1757A>T; p.Q586L; 2:199272656-199272656 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.411G>A; p.A137A; 2:199381756-199381756 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2089G>C; p.E697Q; 2:199272324-199272324 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1643C>T; p.P548L; 2:199308857-199308857 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2022G>A; p.G674G; 2:199272391-199272391 |
skin | malignant_melanoma | Substitution - coding silent |
c.661G>A; p.E221K; 2:199368644-199368644 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1643C>T; p.P548L; 2:199308857-199308857 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.940G>A; p.A314T; 2:199348934-199348934 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1711G>A; p.V571M; 2:199308789-199308789 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1951C>A; p.Q651K; 2:199272462-199272462 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.940G>A; p.A314T; 2:199348934-199348934 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1209C>A; p.D403E; 2:199328875-199328875 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |