Entrez Gene

Basic Information
Gene ID	114548
Name	NLRP3

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.1084C>A; p.L362M; 1:247424527-247424527	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1281G>A; p.E427E; 1:247424724-247424724	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1381G>A; p.G461S; 1:247424824-247424824	pancreas	carcinoma	Substitution - Missense
c.2536G>A; p.D846N; 1:247436007-247436007	skin	malignant_melanoma	Substitution - Missense
c.331G>T; p.D111Y; 1:247423277-247423277	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2498G>T; p.W833L; 1:247434273-247434273	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2975T>G; p.V992G; 1:247444785-247444785	oesophagus	carcinoma	Substitution - Missense
c.2498G>T; p.W833L; 1:247434273-247434273	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2498G>T; p.W833L; 1:247434273-247434273	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.358T>A; p.L120I; 1:247423304-247423304	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2388C>A; p.S796R; 1:247434163-247434163	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2397G>T; p.K799N; 1:247434172-247434172	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2408T>A; p.L803Q; 1:247434183-247434183	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1836T>C; p.I612I; 1:247425279-247425279	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1285G>T; p.G429C; 1:247424728-247424728	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2890C>T; p.L964F; 1:247444700-247444700	liver	carcinoma	Substitution - Missense
c.1040T>G; p.L347R; 1:247424483-247424483	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2318G>A; p.R773Q; 1:247429746-247429746	pancreas	carcinoma	Substitution - Missense
c.2447G>A; p.R816K; 1:247434222-247434222	skin; arm	malignant_melanoma	Substitution - Missense
c.748C>T; p.Q250*; 1:247424191-247424191	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1635C>T; p.N545N; 1:247425078-247425078	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.1368G>A; p.G456G; 1:247424811-247424811	skin	malignant_melanoma	Substitution - coding silent
c.732G>A; p.A244A; 1:247424175-247424175	thyroid	other; neoplasm	Substitution - coding silent
c.732G>A; p.A244A; 1:247424175-247424175	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1235C>T; p.P412L; 1:247424678-247424678	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2067G>A; p.K689K; 1:247425510-247425510	skin	malignant_melanoma	Substitution - coding silent
c.732G>A; p.A244A; 1:247424175-247424175	thyroid	other; neoplasm	Substitution - coding silent
c.732G>A; p.A244A; 1:247424175-247424175	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.732G>A; p.A244A; 1:247424175-247424175	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1562T>A; p.I521N; 1:247425005-247425005	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2845G>C; p.D949H; 1:247444655-247444655	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1409G>A; p.C470Y; 1:247424852-247424852	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1409G>A; p.C470Y; 1:247424852-247424852	large_intestine; colon	carcinoma	Substitution - Missense
c.1409G>A; p.C470Y; 1:247424852-247424852	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.121C>A; p.L41I; 1:247418915-247418915	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2800G>T; p.E934*; 1:247444102-247444102	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1152_1153GT>AG; p.Y385D; 1:247424595-247424596	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2783G>A; p.G928E; 1:247444085-247444085	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2522C>T; p.S841L; 1:247435993-247435993	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2163G>A; p.V721V; 1:247429591-247429591	skin	malignant_melanoma	Substitution - coding silent
c.844G>T; p.D282Y; 1:247424287-247424287	thyroid	other; neoplasm	Substitution - Missense
c.377G>T; p.R126I; 1:247423323-247423323	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1446C>T; p.I482I; 1:247424889-247424889	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.929C>T; p.A310V; 1:247424372-247424372	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2606A>T; p.D869V; 1:247436077-247436077	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.225C>T; p.F75F; 1:247419019-247419019	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.549G>A; p.R183R; 1:247423992-247423992	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2485C>A; p.L829M; 1:247434260-247434260	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2744C>T; p.T915M; 1:247444046-247444046	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1599C>A; p.Y533*; 1:247425042-247425042	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Nonsense
c.499C>T; p.R167C; 1:247423942-247423942	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.457G>T; p.D153Y; 1:247423900-247423900	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.499C>T; p.R167C; 1:247423942-247423942	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.499C>T; p.R167C; 1:247423942-247423942	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2023C>T; p.R675W; 1:247425466-247425466	skin	malignant_melanoma	Substitution - Missense
c.1993G>T; p.V665F; 1:247425436-247425436	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1945T>A; p.Y649N; 1:247425388-247425388	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2079G>T; p.E693D; 1:247425522-247425522	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2757G>A; p.L919L; 1:247444059-247444059	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1859A>G; p.K620R; 1:247425302-247425302	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1898G>A; p.C633Y; 1:247425341-247425341	pancreas	carcinoma	Substitution - Missense
c.2757G>A; p.L919L; 1:247444059-247444059	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2757G>A; p.L919L; 1:247444059-247444059	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2757G>A; p.L919L; 1:247444059-247444059	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2757G>A; p.L919L; 1:247444059-247444059	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1796A>T; p.K599M; 1:247425239-247425239	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.538C>A; p.Q180K; 1:247423981-247423981	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.377G>A; p.R126K; 1:247423323-247423323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2095C>T; p.R699*; 1:247425538-247425538	breast	carcinoma	Substitution - Nonsense
c.2586G>T; p.V862V; 1:247436057-247436057	skin	malignant_melanoma	Substitution - coding silent
c.2095C>T; p.R699*; 1:247425538-247425538	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.410G>A; p.R137H; 1:247423853-247423853	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.366G>T; p.E122D; 1:247423312-247423312	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.784C>T; p.R262*; 1:247424227-247424227	ovary	carcinoma; clear_cell_carcinoma	Substitution - Nonsense
c.913G>A; p.D305N; 1:247424356-247424356	skin	malignant_melanoma	Substitution - Missense
c.751G>T; p.D251Y; 1:247424194-247424194	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.410G>A; p.R137H; 1:247423853-247423853	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.913G>A; p.D305N; 1:247424356-247424356	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2878G>A; p.D960N; 1:247444688-247444688	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2279T>C; p.V760A; 1:247429707-247429707	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2262G>A; p.G754G; 1:247429690-247429690	skin	malignant_melanoma	Substitution - coding silent
c.533G>A; p.R178Q; 1:247423976-247423976	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.556G>T; p.E186*; 1:247423999-247423999	skin	malignant_melanoma	Substitution - Nonsense
c.126G>A; p.P42P; 1:247418920-247418920	central_nervous_system; brain	glioma	Substitution - coding silent
c.343G>T; p.E115*; 1:247423289-247423289	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2878G>A; p.D960N; 1:247444688-247444688	skin	malignant_melanoma	Substitution - Missense
c.2511C>T; p.C837C; 1:247435982-247435982	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1767C>T; p.T589T; 1:247425210-247425210	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2967C>A; p.F989L; 1:247444777-247444777	breast	carcinoma	Substitution - Missense
c.444C>A; p.F148L; 1:247423887-247423887	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.870C>T; p.I290I; 1:247424313-247424313	skin	malignant_melanoma	Substitution - coding silent
c.870C>T; p.I290I; 1:247424313-247424313	skin	malignant_melanoma	Substitution - coding silent
c.870C>T; p.I290I; 1:247424313-247424313	skin	malignant_melanoma	Substitution - coding silent
c.2094C>A; p.G698G; 1:247425537-247425537	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2094C>A; p.G698G; 1:247425537-247425537	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.231G>A; p.A77A; 1:247419025-247419025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.117C>T; p.I39I; 1:247418911-247418911	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.117C>T; p.I39I; 1:247418911-247418911	skin	malignant_melanoma	Substitution - coding silent
c.231G>A; p.A77A; 1:247419025-247419025	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2781G>T; p.K927N; 1:247444083-247444083	liver	carcinoma	Substitution - Missense
c.1061C>A; p.A354D; 1:247424504-247424504	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2927T>G; p.L976R; 1:247444737-247444737	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1417G>A; p.A473T; 1:247424860-247424860	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2756T>C; p.L919P; 1:247444058-247444058	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2756T>C; p.L919P; 1:247444058-247444058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2756T>C; p.L919P; 1:247444058-247444058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2339G>T; p.C780F; 1:247434114-247434114	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.515G>A; p.R172H; 1:247423958-247423958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.515G>A; p.R172H; 1:247423958-247423958	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.195G>A; p.E65E; 1:247418989-247418989	skin	malignant_melanoma	Substitution - coding silent
c.1874C>A; p.P625H; 1:247425317-247425317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1669G>T; p.D557Y; 1:247425112-247425112	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.950C>T; p.P317L; 1:247424393-247424393	central_nervous_system; brain	glioma	Substitution - Missense
c.1669G>T; p.D557Y; 1:247425112-247425112	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2669+2T>C; p.?; 1:247436142-247436142	stomach	carcinoma; adenocarcinoma	Unknown
c.1165G>A; p.E389K; 1:247424608-247424608	pancreas	NS	Substitution - Missense
c.508C>T; p.R170*; 1:247423951-247423951	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1369A>G; p.S457G; 1:247424812-247424812	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.508C>T; p.R170*; 1:247423951-247423951	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1221C>A; p.T407T; 1:247424664-247424664	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.637G>A; p.D213N; 1:247424080-247424080	skin	malignant_melanoma	Substitution - Missense
c.2198T>G; p.L733R; 1:247429626-247429626	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.637G>A; p.D213N; 1:247424080-247424080	skin	malignant_melanoma	Substitution - Missense
c.310C>T; p.P104S; 1:247423256-247423256	skin	malignant_melanoma	Substitution - Missense
c.2569C>A; p.L857M; 1:247436040-247436040	pancreas	carcinoma	Substitution - Missense
c.2669+1G>C; p.?; 1:247436141-247436141	ovary	carcinoma; serous_carcinoma	Unknown
c.1782G>T; p.K594N; 1:247425225-247425225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.995T>C; p.L332P; 1:247424438-247424438	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.178G>A; p.D60N; 1:247418972-247418972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1330G>A; p.V444I; 1:247424773-247424773	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.178G>A; p.D60N; 1:247418972-247418972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1782G>T; p.K594N; 1:247425225-247425225	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2690C>T; p.T897M; 1:247443992-247443992	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2112G>C; p.V704V; 1:247425555-247425555	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2954G>A; p.G985E; 1:247444764-247444764	skin	malignant_melanoma	Substitution - Missense
c.1850A>C; p.K617T; 1:247425293-247425293	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3084G>A; p.L1028L; 1:247448477-247448477	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.90G>T; p.E30D; 1:247418884-247418884	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.468C>T; p.A156A; 1:247423911-247423911	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1247G>C; p.W416S; 1:247424690-247424690	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.892C>T; p.L298F; 1:247424335-247424335	skin	malignant_melanoma	Substitution - Missense
c.839G>T; p.C280F; 1:247424282-247424282	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1563C>T; p.I521I; 1:247425006-247425006	pancreas	carcinoma	Substitution - coding silent
c.1789A>C; p.S597R; 1:247425232-247425232	skin	malignant_melanoma	Substitution - Missense
c.1563C>T; p.I521I; 1:247425006-247425006	pancreas	carcinoma	Substitution - coding silent
c.1563C>T; p.I521I; 1:247425006-247425006	pancreas	carcinoma	Substitution - coding silent
c.305C>T; p.S102L; 1:247423251-247423251	skin	malignant_melanoma	Substitution - Missense
c.305C>T; p.S102L; 1:247423251-247423251	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1563C>T; p.I521I; 1:247425006-247425006	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.305C>T; p.S102L; 1:247423251-247423251	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2773G>A; p.G925R; 1:247444075-247444075	skin	malignant_melanoma	Substitution - Missense
c.1649G>A; p.R550H; 1:247425092-247425092	oesophagus	carcinoma	Substitution - Missense
c.2818G>A; p.D940N; 1:247444120-247444120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1631C>A; p.T544K; 1:247425074-247425074	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2452C>T; p.L818L; 1:247434227-247434227	breast	carcinoma	Substitution - coding silent
c.1462G>A; p.D488N; 1:247424905-247424905	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1367G>T; p.G456V; 1:247424810-247424810	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.677G>A; p.G226E; 1:247424120-247424120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2826G>C; p.K942N; 1:247444128-247444128	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2742C>G; p.L914L; 1:247444044-247444044	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.945A>T; p.I315I; 1:247424388-247424388	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.125C>A; p.P42Q; 1:247418919-247418919	skin	malignant_melanoma	Substitution - Missense
c.2886C>A; p.S962S; 1:247444696-247444696	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.125C>A; p.P42Q; 1:247418919-247418919	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2317C>T; p.R773W; 1:247429745-247429745	skin	malignant_melanoma	Substitution - Missense
c.513G>A; p.L171L; 1:247423956-247423956	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.680C>A; p.A227E; 1:247424123-247424123	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1171C>A; p.Q391K; 1:247424614-247424614	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.218G>A; p.W73*; 1:247419012-247419012	skin	malignant_melanoma	Substitution - Nonsense
c.1403G>A; p.G468E; 1:247424846-247424846	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1403G>A; p.G468E; 1:247424846-247424846	large_intestine; colon	carcinoma	Substitution - Missense
c.1906G>A; p.E636K; 1:247425349-247425349	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1818G>A; p.L606L; 1:247425261-247425261	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.951G>A; p.P317P; 1:247424394-247424394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.230C>T; p.A77V; 1:247419024-247419024	breast	carcinoma	Substitution - Missense
c.951G>A; p.P317P; 1:247424394-247424394	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.962A>T; p.D321V; 1:247424405-247424405	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1648C>T; p.R550C; 1:247425091-247425091	skin	malignant_melanoma	Substitution - Missense
c.881C>T; p.P294L; 1:247424324-247424324	skin	malignant_melanoma	Substitution - Missense
c.881C>T; p.P294L; 1:247424324-247424324	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2082G>A; p.E694E; 1:247425525-247425525	skin	malignant_melanoma	Substitution - coding silent
c.881C>T; p.P294L; 1:247424324-247424324	skin	malignant_melanoma	Substitution - Missense
c.1648C>T; p.R550C; 1:247425091-247425091	skin	malignant_melanoma	Substitution - Missense
c.867G>T; p.K289N; 1:247424310-247424310	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.939G>T; p.E313D; 1:247424382-247424382	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.120C>A; p.P40P; 1:247418914-247418914	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2796C>A; p.L932L; 1:247444098-247444098	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1059G>A; p.V353V; 1:247424502-247424502	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1847C>T; p.A616V; 1:247425290-247425290	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2357G>A; p.C786Y; 1:247434132-247434132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.532C>T; p.R178W; 1:247423975-247423975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.177C>G; p.I59M; 1:247418971-247418971	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.69G>T; p.K23N; 1:247418863-247418863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2503G>A; p.V835I; 1:247435974-247435974	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1782G>A; p.K594K; 1:247425225-247425225	skin	malignant_melanoma	Substitution - coding silent
c.702C>T; p.I234I; 1:247424145-247424145	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.702C>T; p.I234I; 1:247424145-247424145	skin	malignant_melanoma	Substitution - coding silent
c.1782G>A; p.K594K; 1:247425225-247425225	skin	malignant_melanoma	Substitution - coding silent
c.748C>G; p.Q250E; 1:247424191-247424191	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203G>A; p.W68*; 1:247418997-247418997	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1122C>A; p.S374S; 1:247424565-247424565	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.843C>T; p.P281P; 1:247424286-247424286	skin	malignant_melanoma	Substitution - coding silent
c.904G>A; p.D302N; 1:247424347-247424347	skin	malignant_melanoma	Substitution - Missense
c.2946C>T; p.G982G; 1:247444756-247444756	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2946C>T; p.G982G; 1:247444756-247444756	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.253G>A; p.E85K; 1:247419047-247419047	skin	malignant_melanoma	Substitution - Missense
c.1126G>T; p.A376S; 1:247424569-247424569	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2168G>A; p.S723N; 1:247429596-247429596	skin	malignant_melanoma	Substitution - Missense
c.1014G>A; p.K338K; 1:247424457-247424457	skin	malignant_melanoma	Substitution - coding silent
c.2548G>T; p.V850L; 1:247436019-247436019	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.32_34delCCA; p.A11_R12>G; 1:247418826-247418828	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Complex - deletion inframe
c.2693C>G; p.S898*; 1:247443995-247443995	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.32_34delCCA; p.A11_R12>G; 1:247418826-247418828	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Complex - deletion inframe
c.2271G>A; p.G757G; 1:247429699-247429699	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1455G>A; p.E485E; 1:247424898-247424898	skin	malignant_melanoma	Substitution - coding silent
c.1515G>A; p.M505I; 1:247424958-247424958	skin	malignant_melanoma	Substitution - Missense
c.3007C>T; p.L1003L; 1:247444817-247444817	skin	malignant_melanoma	Substitution - coding silent
c.1710G>T; p.K570N; 1:247425153-247425153	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2755C>G; p.L919V; 1:247444057-247444057	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2001C>A; p.S667S; 1:247425444-247425444	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.979C>G; p.R327G; 1:247424422-247424422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.979C>T; p.R327W; 1:247424422-247424422	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.979C>G; p.R327G; 1:247424422-247424422	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.979C>T; p.R327W; 1:247424422-247424422	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.570C>T; p.I190I; 1:247424013-247424013	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1993G>A; p.V665I; 1:247425436-247425436	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1878C>A; p.S626R; 1:247425321-247425321	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1950C>T; p.F650F; 1:247425393-247425393	skin	malignant_melanoma	Substitution - coding silent
c.2881C>T; p.L961F; 1:247444691-247444691	skin	malignant_melanoma	Substitution - Missense
c.2517C>A; p.L839L; 1:247435988-247435988	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1278G>A; p.M426I; 1:247424721-247424721	skin	malignant_melanoma	Substitution - Missense
c.214G>A; p.V72M; 1:247419008-247419008	breast	carcinoma	Substitution - Missense
c.214G>A; p.V72M; 1:247419008-247419008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1837G>T; p.E613*; 1:247425280-247425280	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2156+5G>A; p.?; 1:247425604-247425604	kidney	other; neoplasm	Unknown
c.780C>T; p.H260H; 1:247424223-247424223	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.312C>T; p.P104P; 1:247423258-247423258	skin	malignant_melanoma	Substitution - coding silent
c.2306G>C; p.G769A; 1:247429734-247429734	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3090C>A; p.V1030V; 1:247448483-247448483	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1564C>A; p.H522N; 1:247425007-247425007	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.862C>T; p.H288Y; 1:247424305-247424305	skin	malignant_melanoma	Substitution - Missense
c.509G>A; p.R170Q; 1:247423952-247423952	skin	malignant_melanoma	Substitution - Missense
c.873G>C; p.V291V; 1:247424316-247424316	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1740C>T; p.L580L; 1:247425183-247425183	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1120T>C; p.S374P; 1:247424563-247424563	breast	carcinoma	Substitution - Missense
c.1856A>C; p.K619T; 1:247425299-247425299	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.796C>G; p.L266V; 1:247424239-247424239	breast	carcinoma	Substitution - Missense
c.1032C>T; p.A344A; 1:247424475-247424475	skin	malignant_melanoma	Substitution - coding silent
c.349T>C; p.W117R; 1:247423295-247423295	thyroid	carcinoma	Substitution - Missense
c.1062C>T; p.A354A; 1:247424505-247424505	skin	malignant_melanoma	Substitution - coding silent
c.1378C>A; p.H460N; 1:247424821-247424821	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2096G>A; p.R699Q; 1:247425539-247425539	small_intestine	carcinoid-endocrine_tumour	Substitution - Missense
c.760G>C; p.D254H; 1:247424203-247424203	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2964G>A; p.M988I; 1:247444774-247444774	skin	malignant_melanoma	Substitution - Missense
c.1556G>A; p.S519N; 1:247424999-247424999	skin	malignant_melanoma	Substitution - Missense
c.2044G>A; p.G682R; 1:247425487-247425487	skin	malignant_melanoma	Substitution - Missense
c.1233C>T; p.I411I; 1:247424676-247424676	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2425G>A; p.A809T; 1:247434200-247434200	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3078T>C; p.P1026P; 1:247448471-247448471	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2044G>A; p.G682R; 1:247425487-247425487	ovary	other; neoplasm	Substitution - Missense
c.980G>C; p.R327P; 1:247424423-247424423	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2357G>C; p.C786S; 1:247434132-247434132	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1462G>T; p.D488Y; 1:247424905-247424905	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.980G>C; p.R327P; 1:247424423-247424423	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3079G>A; p.E1027K; 1:247448472-247448472	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2824A>T; p.K942*; 1:247444126-247444126	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.981G>A; p.R327R; 1:247424424-247424424	skin	malignant_melanoma	Substitution - coding silent
c.350G>T; p.W117L; 1:247423296-247423296	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1742T>C; p.F581S; 1:247425185-247425185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2744C>A; p.T915K; 1:247444046-247444046	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1029G>A; p.E343E; 1:247424472-247424472	skin	malignant_melanoma	Substitution - coding silent
c.1261G>A; p.G421R; 1:247424704-247424704	skin	malignant_melanoma	Substitution - Missense
c.2561G>T; p.S854I; 1:247436032-247436032	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1812C>T; p.I604I; 1:247425255-247425255	skin	malignant_melanoma	Substitution - coding silent
c.1755C>T; p.N585N; 1:247425198-247425198	ovary	other; neoplasm	Substitution - coding silent
c.814C>A; p.L272M; 1:247424257-247424257	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1755C>T; p.N585N; 1:247425198-247425198	ovary	other; neoplasm	Substitution - coding silent
c.975C>T; p.A325A; 1:247424418-247424418	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.876A>G; p.R292R; 1:247424319-247424319	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.876A>G; p.R292R; 1:247424319-247424319	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1401G>C; p.W467C; 1:247424844-247424844	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2656C>T; p.L886L; 1:247436127-247436127	skin	malignant_melanoma	Substitution - coding silent
c.1111C>A; p.L371M; 1:247424554-247424554	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1770C>T; p.S590S; 1:247425213-247425213	skin	malignant_melanoma	Substitution - coding silent
c.711G>A; p.R237R; 1:247424154-247424154	skin	malignant_melanoma	Substitution - coding silent
c.1057G>T; p.V353L; 1:247424500-247424500	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1396C>T; p.L466F; 1:247424839-247424839	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.993C>T; p.L331L; 1:247424436-247424436	skin	malignant_melanoma	Substitution - coding silent
c.1746C>T; p.G582G; 1:247425189-247425189	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.993C>T; p.L331L; 1:247424436-247424436	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.21C>T; p.R7R; 1:247418815-247418815	skin	malignant_melanoma	Substitution - coding silent
c.1141T>C; p.Y381H; 1:247424584-247424584	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1576C>A; p.Q526K; 1:247425019-247425019	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2088G>A; p.K696K; 1:247425531-247425531	skin	malignant_melanoma	Substitution - coding silent
c.2346C>A; p.L782L; 1:247434121-247434121	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.120C>T; p.P40P; 1:247418914-247418914	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1576C>A; p.Q526K; 1:247425019-247425019	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2181C>A; p.S727S; 1:247429609-247429609	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2181C>A; p.S727S; 1:247429609-247429609	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1926C>A; p.F642L; 1:247425369-247425369	breast	carcinoma	Substitution - Missense
c.836G>T; p.C279F; 1:247424279-247424279	breast	carcinoma	Substitution - Missense
c.1853C>T; p.A618V; 1:247425296-247425296	skin	malignant_melanoma	Substitution - Missense
c.1190G>T; p.S397I; 1:247424633-247424633	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1661C>T; p.P554L; 1:247425104-247425104	skin	malignant_melanoma	Substitution - Missense
c.1428A>T; p.G476G; 1:247424871-247424871	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1428A>T; p.G476G; 1:247424871-247424871	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1819G>A; p.E607K; 1:247425262-247425262	skin	malignant_melanoma	Substitution - Missense
c.1428A>T; p.G476G; 1:247424871-247424871	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1853C>T; p.A618V; 1:247425296-247425296	NS	malignant_melanoma	Substitution - Missense
c.1008C>G; p.I336M; 1:247424451-247424451	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1579G>A; p.E527K; 1:247425022-247425022	skin	malignant_melanoma	Substitution - Missense
c.2574C>A; p.T858T; 1:247436045-247436045	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2068G>A; p.E690K; 1:247425511-247425511	skin	malignant_melanoma	Substitution - Missense
c.584C>A; p.T195K; 1:247424027-247424027	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1322C>G; p.A441G; 1:247424765-247424765	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2773G>T; p.G925*; 1:247444075-247444075	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2091A>T; p.E697D; 1:247425534-247425534	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.536G>A; p.S179N; 1:247423979-247423979	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1398C>A; p.L466L; 1:247424841-247424841	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2640G>T; p.K880N; 1:247436111-247436111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2255C>A; p.S752Y; 1:247429683-247429683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2255C>A; p.S752Y; 1:247429683-247429683	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2255C>A; p.S752Y; 1:247429683-247429683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2640G>T; p.K880N; 1:247436111-247436111	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3033T>G; p.N1011K; 1:247448426-247448426	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1956G>A; p.K652K; 1:247425399-247425399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2500T>C; p.L834L; 1:247435971-247435971	skin	malignant_melanoma	Substitution - coding silent
c.2616C>A; p.V872V; 1:247436087-247436087	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2061G>C; p.M687I; 1:247425504-247425504	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1763G>A; p.R588K; 1:247425206-247425206	skin	malignant_melanoma	Substitution - Missense
c.703C>T; p.L235L; 1:247424146-247424146	skin	malignant_melanoma	Substitution - coding silent
c.677G>C; p.G226A; 1:247424120-247424120	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2095C>A; p.R699R; 1:247425538-247425538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2857C>T; p.L953F; 1:247444667-247444667	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.55G>T; p.D19Y; 1:247418849-247418849	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2849A>G; p.N950S; 1:247444659-247444659	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2328G>A; p.W776*; 1:247434103-247434103	skin	malignant_melanoma	Substitution - Nonsense
c.1653G>A; p.L551L; 1:247425096-247425096	skin	malignant_melanoma	Substitution - coding silent
c.2758C>T; p.R920*; 1:247444060-247444060	pancreas	carcinoma	Substitution - Nonsense
c.2758C>T; p.R920*; 1:247444060-247444060	pancreas	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.1632G>A; p.T544T; 1:247425075-247425075	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.325C>T; p.Q109*; 1:247423271-247423271	pancreas	carcinoma	Substitution - Nonsense
c.486G>A; p.V162V; 1:247423929-247423929	skin	malignant_melanoma	Substitution - coding silent
c.1068G>A; p.E356E; 1:247424511-247424511	skin	malignant_melanoma	Substitution - coding silent
c.2815C>A; p.P939T; 1:247444117-247444117	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.20G>A; p.R7H; 1:247418814-247418814	pancreas	carcinoma	Substitution - Missense
c.1814G>A; p.R605K; 1:247425257-247425257	skin; neck	malignant_melanoma	Substitution - Missense
c.1121C>T; p.S374F; 1:247424564-247424564	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1569G>A; p.M523I; 1:247425012-247425012	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2248G>T; p.D750Y; 1:247429676-247429676	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.470G>A; p.R157H; 1:247423913-247423913	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2691G>A; p.T897T; 1:247443993-247443993	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.470G>A; p.R157H; 1:247423913-247423913	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2016C>T; p.N672N; 1:247425459-247425459	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1055C>T; p.P352L; 1:247424498-247424498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.469C>T; p.R157C; 1:247423912-247423912	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1763G>C; p.R588T; 1:247425206-247425206	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.365A>G; p.E122G; 1:247423311-247423311	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1795A>C; p.K599Q; 1:247425238-247425238	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1833G>C; p.W611C; 1:247425276-247425276	skin	malignant_melanoma	Substitution - Missense
c.689T>G; p.I230S; 1:247424132-247424132	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1216T>C; p.F406L; 1:247424659-247424659	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2209C>T; p.L737L; 1:247429637-247429637	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.306G>A; p.S102S; 1:247423252-247423252	skin	malignant_melanoma	Substitution - coding silent
c.306G>A; p.S102S; 1:247423252-247423252	skin; upper_arm	malignant_melanoma	Substitution - coding silent
c.2121C>A; p.V707V; 1:247425564-247425564	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.969G>C; p.Q323H; 1:247424412-247424412	ovary	other; neoplasm	Substitution - Missense
c.1351C>T; p.L451L; 1:247424794-247424794	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1704C>T; p.F568F; 1:247425147-247425147	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1495G>A; p.V499M; 1:247424938-247424938	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.1704C>T; p.F568F; 1:247425147-247425147	skin	malignant_melanoma	Substitution - coding silent
c.2587G>A; p.G863R; 1:247436058-247436058	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2787C>A; p.I929I; 1:247444089-247444089	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2787C>A; p.I929I; 1:247444089-247444089	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2567C>T; p.S856F; 1:247436038-247436038	skin	malignant_melanoma	Substitution - Missense
c.276G>A; p.P92P; 1:247419070-247419070	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.276G>A; p.P92P; 1:247419070-247419070	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.189G>C; p.G63G; 1:247418983-247418983	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.311C>T; p.P104L; 1:247423257-247423257	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2798G>A; p.C933Y; 1:247444100-247444100	prostate	carcinoma	Substitution - Missense
c.1687G>A; p.E563K; 1:247425130-247425130	skin	malignant_melanoma	Substitution - Missense
c.1279G>C; p.E427Q; 1:247424722-247424722	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.374C>A; p.S125*; 1:247423320-247423320	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2958C>G; p.V986V; 1:247444768-247444768	central_nervous_system; brain	glioma	Substitution - coding silent
c.1687G>A; p.E563K; 1:247425130-247425130	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.790G>T; p.V264L; 1:247424233-247424233	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1308C>T; p.S436S; 1:247424751-247424751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.790G>T; p.V264L; 1:247424233-247424233	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1308C>T; p.S436S; 1:247424751-247424751	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1134G>A; p.R378R; 1:247424577-247424577	skin	malignant_melanoma	Substitution - coding silent
c.1614G>T; p.E538D; 1:247425057-247425057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1376A>G; p.E459G; 1:247424819-247424819	skin	malignant_melanoma	Substitution - Missense
c.1179G>A; p.R393R; 1:247424622-247424622	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1951C>T; p.P651S; 1:247425394-247425394	skin	malignant_melanoma	Substitution - Missense
c.2364C>T; p.F788F; 1:247434139-247434139	skin	malignant_melanoma	Substitution - coding silent
c.637G>T; p.D213Y; 1:247424080-247424080	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2997C>T; p.L999L; 1:247444807-247444807	skin	malignant_melanoma	Substitution - coding silent
c.1960G>A; p.E654K; 1:247425403-247425403	urinary_tract; bladder	carcinoma	Substitution - Missense
c.529C>A; p.H177N; 1:247423972-247423972	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2617G>A; p.A873T; 1:247436088-247436088	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1323G>T; p.A441A; 1:247424766-247424766	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.841C>T; p.P281S; 1:247424284-247424284	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1041C>T; p.L347L; 1:247424484-247424484	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2670-2A>T; p.?; 1:247443970-247443970	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.155T>C; p.V52A; 1:247418949-247418949	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2644C>T; p.P882S; 1:247436115-247436115	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.155T>C; p.V52A; 1:247418949-247418949	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2479T>G; p.C827G; 1:247434254-247434254	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1862T>A; p.L621Q; 1:247425305-247425305	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.912C>T; p.F304F; 1:247424355-247424355	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1926C>T; p.F642F; 1:247425369-247425369	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1926C>T; p.F642F; 1:247425369-247425369	skin	malignant_melanoma	Substitution - coding silent
c.1997C>T; p.S666F; 1:247425440-247425440	skin	malignant_melanoma	Substitution - Missense
c.1926C>T; p.F642F; 1:247425369-247425369	skin	malignant_melanoma	Substitution - coding silent
c.912C>T; p.F304F; 1:247424355-247424355	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.844G>A; p.D282N; 1:247424287-247424287	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1926C>T; p.F642F; 1:247425369-247425369	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.987C>A; p.D329E; 1:247424430-247424430	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1756C>T; p.Q586*; 1:247425199-247425199	skin	malignant_melanoma	Substitution - Nonsense
c.1239G>T; p.L413L; 1:247424682-247424682	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2147G>C; p.C716S; 1:247425590-247425590	skin	malignant_melanoma	Substitution - Missense
c.1390G>A; p.A464T; 1:247424833-247424833	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1880A>G; p.Q627R; 1:247425323-247425323	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1065G>T; p.L355L; 1:247424508-247424508	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1131A>C; p.K377N; 1:247424574-247424574	skin	malignant_melanoma	Substitution - Missense
c.973G>A; p.A325T; 1:247424416-247424416	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.691G>A; p.G231R; 1:247424134-247424134	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2353G>A; p.E785K; 1:247434128-247434128	skin	malignant_melanoma	Substitution - Missense
c.2684G>A; p.G895D; 1:247443986-247443986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1420G>A; p.A474T; 1:247424863-247424863	central_nervous_system; brain	glioma	Substitution - Missense
c.200C>T; p.A67V; 1:247418994-247418994	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1777G>A; p.E593K; 1:247425220-247425220	skin	malignant_melanoma	Substitution - Missense
c.2708C>T; p.A903V; 1:247444010-247444010	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2649G>C; p.Q883H; 1:247436120-247436120	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1440G>A; p.Q480Q; 1:247424883-247424883	skin	malignant_melanoma	Substitution - coding silent
c.111C>T; p.G37G; 1:247418905-247418905	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1814G>T; p.R605M; 1:247425257-247425257	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1192C>G; p.L398V; 1:247424635-247424635	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1643G>A; p.G548E; 1:247425086-247425086	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.675delG; p.A227fs*13; 1:247424118-247424118	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1038G>A; p.L346L; 1:247424481-247424481	breast	carcinoma	Substitution - coding silent
c.1266G>A; p.L422L; 1:247424709-247424709	skin	malignant_melanoma	Substitution - coding silent
c.2227C>T; p.L743L; 1:247429655-247429655	pancreas	carcinoma	Substitution - coding silent
c.796C>A; p.L266I; 1:247424239-247424239	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2788A>C; p.K930Q; 1:247444090-247444090	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1266G>A; p.L422L; 1:247424709-247424709	skin; abdomen	malignant_melanoma	Substitution - coding silent
c.1815G>A; p.R605R; 1:247425258-247425258	skin; neck	malignant_melanoma	Substitution - coding silent
c.2419G>T; p.D807Y; 1:247434194-247434194	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2006G>T; p.C669F; 1:247425449-247425449	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2532T>C; p.C844C; 1:247436003-247436003	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.351G>T; p.W117C; 1:247423297-247423297	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2348C>T; p.S783L; 1:247434123-247434123	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2348C>T; p.S783L; 1:247434123-247434123	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2432G>T; p.G811V; 1:247434207-247434207	pancreas	carcinoma	Substitution - Missense
c.1575C>A; p.F525L; 1:247425018-247425018	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.469C>A; p.R157S; 1:247423912-247423912	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1976C>A; p.T659N; 1:247425419-247425419	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1027G>A; p.E343K; 1:247424470-247424470	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1027G>A; p.E343K; 1:247424470-247424470	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2157-1G>A; p.?; 1:247429584-247429584	skin	malignant_melanoma	Unknown
c.2327+9C>A; p.?; 1:247429764-247429764	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2439C>T; p.F813F; 1:247434214-247434214	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.71A>C; p.K24T; 1:247418865-247418865	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2747A>G; p.H916R; 1:247444049-247444049	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2454G>T; p.L818L; 1:247434229-247434229	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1251C>T; p.I417I; 1:247424694-247424694	skin	malignant_melanoma	Substitution - coding silent
c.1180G>T; p.A394S; 1:247424623-247424623	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2612G>C; p.G871A; 1:247436083-247436083	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3054_3068del15; p.T1020_E1024delTLQEE; 1:247448447-247448461	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.1804C>T; p.Q602*; 1:247425247-247425247	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2455T>C; p.C819R; 1:247434230-247434230	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2191C>A; p.R731R; 1:247429619-247429619	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1979G>A; p.R660K; 1:247425422-247425422	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1748T>C; p.L583P; 1:247425191-247425191	prostate	carcinoma	Substitution - Missense
c.2890C>A; p.L964I; 1:247444700-247444700	ovary	other; neoplasm	Substitution - Missense
c.1879C>A; p.Q627K; 1:247425322-247425322	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1979G>A; p.R660K; 1:247425422-247425422	skin	malignant_melanoma	Substitution - Missense
c.2900C>T; p.S967F; 1:247444710-247444710	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2759G>A; p.R920Q; 1:247444061-247444061	skin	malignant_melanoma	Substitution - Missense
c.363G>A; p.L121L; 1:247423309-247423309	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.947G>T; p.G316V; 1:247424390-247424390	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2759G>A; p.R920Q; 1:247444061-247444061	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2291C>T; p.T764M; 1:247429719-247429719	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.950C>A; p.P317Q; 1:247424393-247424393	breast	carcinoma	Substitution - Missense
c.1423G>A; p.D475N; 1:247424866-247424866	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1175C>A; p.A392D; 1:247424618-247424618	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.351G>A; p.W117*; 1:247423297-247423297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.130G>T; p.G44C; 1:247418924-247418924	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.597C>G; p.P199P; 1:247424040-247424040	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.351G>A; p.W117*; 1:247423297-247423297	skin	malignant_melanoma	Substitution - Nonsense
c.3051G>A; p.A1017A; 1:247448444-247448444	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1643G>T; p.G548V; 1:247425086-247425086	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.693G>A; p.G231G; 1:247424136-247424136	skin	malignant_melanoma	Substitution - coding silent
c.1354C>T; p.Q452*; 1:247424797-247424797	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.693G>A; p.G231G; 1:247424136-247424136	skin	malignant_melanoma	Substitution - coding silent
c.1631C>T; p.T544M; 1:247425074-247425074	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.177C>A; p.I59I; 1:247418971-247418971	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1299C>A; p.A433A; 1:247424742-247424742	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1705G>A; p.E569K; 1:247425148-247425148	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1705G>A; p.E569K; 1:247425148-247425148	skin	malignant_melanoma	Substitution - Missense
c.1237C>T; p.L413L; 1:247424680-247424680	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.158A>G; p.D53G; 1:247418952-247418952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.177C>A; p.I59I; 1:247418971-247418971	pancreas	carcinoma	Substitution - coding silent
c.2861C>T; p.T954M; 1:247444671-247444671	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.214G>T; p.V72L; 1:247419008-247419008	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1860G>A; p.K620K; 1:247425303-247425303	skin	malignant_melanoma	Substitution - coding silent
c.268G>A; p.D90N; 1:247419062-247419062	skin	malignant_melanoma	Substitution - Missense
c.1212C>T; p.V404V; 1:247424655-247424655	skin	malignant_melanoma	Substitution - coding silent
c.284-1G>T; p.?; 1:247423229-247423229	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1170C>A; p.A390A; 1:247424613-247424613	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1942G>T; p.D648Y; 1:247425385-247425385	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1359C>T; p.P453P; 1:247424802-247424802	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1901T>A; p.L634*; 1:247425344-247425344	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1275G>A; p.Q425Q; 1:247424718-247424718	skin	malignant_melanoma	Substitution - coding silent
c.2125C>T; p.P709S; 1:247425568-247425568	skin	malignant_melanoma	Substitution - Missense
c.1372C>A; p.Q458K; 1:247424815-247424815	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.46G>A; p.D16N; 1:247418840-247418840	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1307C>G; p.S436C; 1:247424750-247424750	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.768G>A; p.L256L; 1:247424211-247424211	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1637T>C; p.V546A; 1:247425080-247425080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1224G>C; p.M408I; 1:247424667-247424667	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1478G>A; p.G493E; 1:247424921-247424921	liver	carcinoma	Substitution - Missense
c.1478G>A; p.G493E; 1:247424921-247424921	liver	carcinoma	Substitution - Missense
c.999C>T; p.S333S; 1:247424442-247424442	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.999C>T; p.S333S; 1:247424442-247424442	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1323G>A; p.A441A; 1:247424766-247424766	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.937G>A; p.E313K; 1:247424380-247424380	skin	malignant_melanoma	Substitution - Missense
c.150C>A; p.D50E; 1:247418944-247418944	lung	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database