| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 6774 |
Name | STAT3 |
Synonymous | signal transducer and activator of transcription 3 (acute-phase response factor);STAT3;signal transducer and activator of transcription 3 (acute-phase response factor) |
Definition | DNA-binding protein APRF|acute-phase response factor|signal transducer and activator of transcription 3 |
Position | 17q21.31 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
 |
 |
Loss of Function mutations compare to missense mutations | Top |
 |
| The ratio of the loss-of-function mutations over missense mutations is 0.03. |
The copy number variations for various cancers | Top |
 |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.189G>C; p.E63D; 17:42346653-42346653 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1844_1846delAAG; p.E616del; 17:42323046-42323048 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - In frame |
c.1852G>C; p.G618R; 17:42323040-42323040 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; anaplastic_large_cell_lymphoma | Substitution - Missense |
c.189G>C; p.E63D; 17:42346653-42346653 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1844_1846delAAG; p.E616del; 17:42323046-42323048 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - In frame |
c.1852G>C; p.G618R; 17:42323040-42323040 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1735C>T; p.L579F; 17:42323273-42323273 |
skin | malignant_melanoma | Substitution - Missense |
c.1237C>A; p.L413M; 17:42329454-42329454 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1449G>A; p.L483L; 17:42324978-42324978 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.347T>C; p.L116P; 17:42345584-42345584 |
skin | malignant_melanoma | Substitution - Missense |
c.1982A>T; p.D661V; 17:42322401-42322401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1982A>T; p.D661V; 17:42322401-42322401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1982A>T; p.D661V; 17:42322401-42322401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1982A>T; p.D661V; 17:42322401-42322401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.37C>T; p.R13W; 17:42348480-42348480 |
pancreas | carcinoma | Substitution - Missense |
c.377G>A; p.G126E; 17:42339405-42339405 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1648T>C; p.C550R; 17:42323578-42323578 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.377G>A; p.G126E; 17:42339405-42339405 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.64T>C; p.Y22H; 17:42348453-42348453 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1465-2A>C; p.?; 17:42324848-42324848 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.1244A>T; p.E415V; 17:42329447-42329447 |
liver | carcinoma | Substitution - Missense |
c.1244A>T; p.E415V; 17:42329447-42329447 |
liver | carcinoma | Substitution - Missense |
c.413C>T; p.T138M; 17:42339369-42339369 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1217C>T; p.A406V; 17:42329570-42329570 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1492A>G; p.I498V; 17:42324819-42324819 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1492A>G; p.I498V; 17:42324819-42324819 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1492A>G; p.I498V; 17:42324819-42324819 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1131T>C; p.A377A; 17:42329755-42329755 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.545A>G; p.Q182R; 17:42338736-42338736 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1895C>T; p.T632I; 17:42322488-42322488 |
skin | malignant_melanoma | Substitution - Missense |
c.74G>A; p.S25N; 17:42348443-42348443 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1696G>A; p.D566N; 17:42323312-42323312 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1967G>A; p.G656D; 17:42322416-42322416 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hepatosplenic_T_cell_lymphoma | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; anaplastic_large_cell_lymphoma | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1846G>A; p.E616K; 17:42323046-42323046 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1967G>A; p.G656D; 17:42322416-42322416 |
liver | other; adenoma | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1981G>T; p.D661Y; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1981G>A; p.D661N; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1968_1969insTAT; p.G656_Y657insY; 17:42322414-42322415 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Insertion - In frame |
c.1005G>A; p.R335R; 17:42333717-42333717 |
skin | malignant_melanoma | Substitution - coding silent |
c.2187C>T; p.R729R; 17:42316859-42316859 |
breast | carcinoma | Substitution - coding silent |
c.1974G>T; p.K658N; 17:42322409-42322409 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1974G>T; p.K658N; 17:42322409-42322409 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.2049C>A; p.F683L; 17:42322334-42322334 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1995C>T; p.I665I; 17:42322388-42322388 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1922C>T; p.T641I; 17:42322461-42322461 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2171T>C; p.L724P; 17:42316875-42316875 |
breast | carcinoma | Substitution - Missense |
c.1374C>T; p.S458S; 17:42325053-42325053 |
pancreas | carcinoma | Substitution - coding silent |
c.1229A>G; p.H410R; 17:42329558-42329558 |
breast | carcinoma | Substitution - Missense |
c.469-2A>G; p.?; 17:42338814-42338814 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.532delA; p.T178fs*11; 17:42338749-42338749 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1840A>C; p.S614R; 17:42323052-42323052 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.946T>A; p.L316I; 17:42333901-42333901 |
skin | malignant_melanoma | Substitution - Missense |
c.1152T>G; p.F384L; 17:42329635-42329635 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2185delC; p.R729fs*3; 17:42316861-42316861 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.966G>T; p.V322V; 17:42333756-42333756 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.2185_2186insC; p.R729fs*12; 17:42316860-42316861 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.1849G>A; p.G617R; 17:42323043-42323043 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2185delC; p.R729fs*3; 17:42316861-42316861 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1972_1974AAG>TAT; p.K658Y; 17:42322409-42322411 |
liver | other; adenoma | Substitution - Missense |
c.1961T>C; p.I654T; 17:42322422-42322422 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1981G>C; p.D661H; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1540T>A; p.S514T; 17:42324771-42324771 |
pancreas | carcinoma | Substitution - Missense |
c.1981G>C; p.D661H; 17:42322402-42322402 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; anaplastic_large_cell_lymphoma | Substitution - Missense |
c.1516G>A; p.E506K; 17:42324795-42324795 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.627G>A; p.A209A; 17:42337781-42337781 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1704C>A; p.I568I; 17:42323304-42323304 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1924A>G; p.K642E; 17:42322459-42322459 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1847_1849delAAG; p.E616delE; 17:42323043-42323045 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - In frame |
c.1847_1849delAAG; p.E616delE; 17:42323043-42323045 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.1968_1968C>TTTT; p.G656_Y657insF; 17:42322415-42322415 |
liver | other; adenoma | Insertion - In frame |
c.468G>A; p.Q156Q; 17:42339314-42339314 |
liver | carcinoma | Substitution - coding silent |
c.130G>A; p.A44T; 17:42346712-42346712 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
liver | other; adenoma | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue; salivary_gland | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue; lung | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hepatosplenic_T_cell_lymphoma | Substitution - Missense |
c.1066C>T; p.P356S; 17:42331515-42331515 |
skin | malignant_melanoma | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1919A>T; p.Y640F; 17:42322464-42322464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.2303C>T; p.S768F; 17:42315755-42315755 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1204G>T; p.G402C; 17:42329583-42329583 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1957A>G; p.I653V; 17:42322426-42322426 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.1204G>T; p.G402C; 17:42329583-42329583 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2103C>T; p.S701S; 17:42317223-42317223 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.463G>A; p.V155M; 17:42339319-42339319 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1487C>T; p.P496L; 17:42324824-42324824 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1922C>G; p.T641R; 17:42322461-42322461 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.225G>A; p.S75S; 17:42346617-42346617 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1922C>G; p.T641R; 17:42322461-42322461 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.225G>A; p.S75S; 17:42346617-42346617 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1024G>A; p.G342S; 17:42333698-42333698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue; pleura | lymphoid_neoplasm; anaplastic_large_cell_lymphoma | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK_cell_leukaemia | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1243G>A; p.E415K; 17:42329448-42329448 |
liver | carcinoma | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1940A>T; p.N647I; 17:42322443-42322443 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.617T>A; p.M206K; 17:42337791-42337791 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1576A>G; p.T526A; 17:42324735-42324735 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1151T>A; p.F384Y; 17:42329636-42329636 |
breast | carcinoma | Substitution - Missense |
c.2023C>T; p.P675S; 17:42322360-42322360 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1912G>A; p.E638K; 17:42322471-42322471 |
skin | malignant_melanoma | Substitution - Missense |
c.834T>C; p.R278R; 17:42334013-42334013 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1122C>T; p.D374D; 17:42329764-42329764 |
skin | malignant_melanoma | Substitution - coding silent |
c.2312G>A; p.*771*; 17:42315746-42315746 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - coding silent |
c.1965G>A; p.M655I; 17:42322418-42322418 |
liver | other; adenoma | Substitution - Missense |
c.1465-1G>T; p.?; 17:42324847-42324847 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1552C>T; p.R518*; 17:42324759-42324759 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.496G>C; p.E166Q; 17:42338785-42338785 |
liver | other; adenoma | Substitution - Missense |
c.268C>A; p.L90I; 17:42346574-42346574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.908C>T; p.P303L; 17:42333939-42333939 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.250C>T; p.R84*; 17:42346592-42346592 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.364G>A; p.A122T; 17:42345567-42345567 |
breast | carcinoma | Substitution - Missense |
c.1255G>T; p.G419W; 17:42329436-42329436 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1847A>G; p.E616G; 17:42323045-42323045 |
haematopoietic_and_lymphoid_tissue; sinonasal_and_nasal_cavity | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.789A>G; p.L263L; 17:42337443-42337443 |
pancreas | carcinoma | Substitution - coding silent |
c.1187_1188TG>TA; p.M396>?; 17:42329599-42329600 |
lung | carcinoma; adenocarcinoma | Complex |
c.1287C>A; p.S429S; 17:42326194-42326194 |
liver | carcinoma | Substitution - coding silent |
c.1826G>C; p.R609T; 17:42323066-42323066 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1287C>A; p.S429S; 17:42326194-42326194 |
liver | carcinoma | Substitution - coding silent |
c.600G>C; p.M200I; 17:42337808-42337808 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1980_1981ins12; p.M660_D661insYKIM; 17:42322402-42322403 |
liver | other; adenoma | Insertion - In frame |
c.1204G>A; p.G402S; 17:42329583-42329583 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1920C>T; p.Y640Y; 17:42322463-42322463 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1842C>G; p.S614R; 17:42323050-42323050 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1842C>G; p.S614R; 17:42323050-42323050 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1842C>G; p.S614R; 17:42323050-42323050 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1842C>G; p.S614R; 17:42323050-42323050 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Missense |
c.1842C>G; p.S614R; 17:42323050-42323050 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.1701T>A; p.N567K; 17:42323307-42323307 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1409T>G; p.M470R; 17:42325018-42325018 |
thyroid | other; neoplasm | Substitution - Missense |
c.1953T>C; p.A651A; 17:42322430-42322430 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2148G>C; p.T716T; 17:42316898-42316898 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.158C>G; p.A53G; 17:42346684-42346684 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1481C>T; p.T494I; 17:42324830-42324830 |
skin | malignant_melanoma | Substitution - Missense |
c.877T>A; p.Y293N; 17:42333970-42333970 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2289G>A; p.S763S; 17:42315769-42315769 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.159C>T; p.A53A; 17:42346683-42346683 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1280A>G; p.D427G; 17:42329411-42329411 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.984C>T; p.C328C; 17:42333738-42333738 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1709A>G; p.D570G; 17:42323299-42323299 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.832C>T; p.R278C; 17:42334015-42334015 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.137C>T; p.A46V; 17:42346705-42346705 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1268G>A; p.R423Q; 17:42329423-42329423 |
breast | carcinoma | Substitution - Missense |
c.1767C>G; p.I589M; 17:42323125-42323125 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.137C>T; p.A46V; 17:42346705-42346705 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1479_1480insT; p.T494fs*55; 17:42324831-42324832 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.134A>G; p.Y45C; 17:42346708-42346708 |
liver | carcinoma | Substitution - Missense |
c.134A>G; p.Y45C; 17:42346708-42346708 |
liver | carcinoma | Substitution - Missense |
c.722C>A; p.A241D; 17:42337510-42337510 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1317C>T; p.I439I; 17:42326164-42326164 |
skin | malignant_melanoma | Substitution - coding silent |
c.707C>T; p.T236M; 17:42337525-42337525 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.104C>T; p.A35V; 17:42348413-42348413 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.785G>A; p.R262Q; 17:42337447-42337447 |
ovary | other; neoplasm | Substitution - Missense |
c.233T>G; p.L78R; 17:42346609-42346609 |
liver | other; adenoma | Substitution - Missense |
c.79C>T; p.P27S; 17:42348438-42348438 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.994C>T; p.H332Y; 17:42333728-42333728 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.927C>T; p.I309I; 17:42333920-42333920 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.927C>T; p.I309I; 17:42333920-42333920 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1206C>A; p.G402G; 17:42329581-42329581 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.78C>T; p.F26F; 17:42348439-42348439 |
skin | malignant_melanoma | Substitution - coding silent |
c.1728C>T; p.I576I; 17:42323280-42323280 |
skin | malignant_melanoma | Substitution - coding silent |
c.1428C>T; p.S476S; 17:42324999-42324999 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1105G>A; p.D369N; 17:42331476-42331476 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1777C>T; p.R593W; 17:42323115-42323115 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1067C>T; p.P356L; 17:42331514-42331514 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2049C>T; p.F683F; 17:42322334-42322334 |
skin | malignant_melanoma | Substitution - coding silent |
c.1504G>T; p.D502Y; 17:42324807-42324807 |
liver | other; adenoma | Substitution - Missense |
c.1414A>G; p.N472D; 17:42325013-42325013 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1273A>G; p.N425D; 17:42329418-42329418 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1946C>G; p.S649*; 17:42322437-42322437 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.238C>T; p.Q80*; 17:42346604-42346604 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1988_1989CC>TT; p.T663I; 17:42322394-42322395 |
haematopoietic_and_lymphoid_tissue; groin | lymphoid_neoplasm; B_cell_lymphoma_unclassifiable_with_features_intermediate_between_DLBCL_and_Burkitt_lymphoma | Substitution - Missense |
c.765G>A; p.P255P; 17:42337467-42337467 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.765G>A; p.P255P; 17:42337467-42337467 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.765G>A; p.P255P; 17:42337467-42337467 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1946C>T; p.S649L; 17:42322437-42322437 |
haematopoietic_and_lymphoid_tissue; ovary | lymphoid_neoplasm; B_cell_lymphoma_unclassifiable_with_features_intermediate_between_DLBCL_and_Burkitt_lymphoma | Substitution - Missense |
c.1144C>T; p.R382W; 17:42329643-42329643 |
prostate | carcinoma | Substitution - Missense |
c.2295C>T; p.C765C; 17:42315763-42315763 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - coding silent |
c.283C>T; p.L95F; 17:42345648-42345648 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1539C>T; p.S513S; 17:42324772-42324772 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1033T>C; p.F345L; 17:42333689-42333689 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1033T>C; p.F345L; 17:42333689-42333689 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.92G>A; p.R31Q; 17:42348425-42348425 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1769G>A; p.S590N; 17:42323123-42323123 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1210C>G; p.L404V; 17:42329577-42329577 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1927C>A; p.Q643K; 17:42322456-42322456 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.220G>T; p.E74*; 17:42346622-42346622 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |