lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	641
Symbol	BLM
Synonymous	BS\|RECQ2\|RECQL2\|RECQL3
Full name	Bloom syndrome, RecQ helicase-like
Gene description	Bloom syndrome protein\|DNA helicase, RecQ-like type 2\|recQ protein-like 3
Cytoband	15q26.1
Gene type	protein-coding
Synonymous	MIM:604610; HGNC:HGNC:1058; Ensembl:ENSG00000197299; HPRD:05211; Vega:OTTHUMG00000149834

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1041A>C; p.K347N; 15:90754892-90754892	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2889T>A; p.H963Q; 15:90790714-90790714	liver	carcinoma	Substitution - Missense
c.2119C>T; p.P707S; 15:90765340-90765340	skin	malignant_melanoma	Substitution - Missense
c.2889T>A; p.H963Q; 15:90790714-90790714	liver	carcinoma	Substitution - Missense
c.2119C>T; p.P707S; 15:90765340-90765340	skin	malignant_melanoma	Substitution - Missense
c.753T>A; p.D251E; 15:90750021-90750021	liver	carcinoma	Substitution - Missense
c.753T>A; p.D251E; 15:90750021-90750021	liver	carcinoma	Substitution - Missense
c.3632G>T; p.R1211M; 15:90804240-90804240	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3227A>G; p.D1076G; 15:90798206-90798206	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.760_765delGAAAGT; p.E254_S255delES; 15:90750028-90750033	breast	carcinoma	Deletion - In frame
c.1529G>A; p.R510K; 15:90760902-90760902	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3147A>G; p.G1049G; 15:90794294-90794294	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4024T>C; p.S1342P; 15:90811354-90811354	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1603A>C; p.K535Q; 15:90760976-90760976	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3793G>T; p.G1265C; 15:90809178-90809178	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.859C>T; p.P287S; 15:90751846-90751846	skin	malignant_melanoma	Substitution - Missense
c.662C>T; p.T221I; 15:90749930-90749930	skin; subungual	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.4152T>C; p.H1384H; 15:90815177-90815177	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.2490G>A; p.T830T; 15:90769521-90769521	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.469A>G; p.M157V; 15:90749737-90749737	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3139G>A; p.E1047K; 15:90794286-90794286	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2500A>T; p.N834Y; 15:90769531-90769531	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.469A>G; p.M157V; 15:90749737-90749737	liver	carcinoma	Substitution - Missense
c.2490G>A; p.T830T; 15:90769521-90769521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3260T>G; p.F1087C; 15:90798239-90798239	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2481G>A; p.M827I; 15:90769512-90769512	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.756T>G; p.A252A; 15:90750024-90750024	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2675T>C; p.I892T; 15:90784933-90784933	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.255G>T; p.R85S; 15:90749523-90749523	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1722A>G; p.L574L; 15:90761095-90761095	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3229G>A; p.V1077M; 15:90798208-90798208	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.6T>A; p.A2A; 15:90747398-90747398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.793G>C; p.E265Q; 15:90750061-90750061	breast	carcinoma	Substitution - Missense
c.2270A>G; p.D757G; 15:90766986-90766986	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2720C>T; p.T907M; 15:90784978-90784978	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3839C>T; p.S1280L; 15:90809224-90809224	breast	carcinoma	Substitution - Missense
c.1413T>C; p.T471T; 15:90760786-90760786	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - coding silent
c.893C>T; p.T298M; 15:90751880-90751880	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.893C>T; p.T298M; 15:90751880-90751880	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.893C>T; p.T298M; 15:90751880-90751880	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.255G>A; p.R85R; 15:90749523-90749523	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4229T>G; p.L1410R; 15:90815254-90815254	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2372G>A; p.R791H; 15:90769197-90769197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1074C>T; p.S358S; 15:90754925-90754925	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.449C>T; p.T150I; 15:90749717-90749717	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2890G>A; p.A964T; 15:90790715-90790715	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3922G>A; p.G1308R; 15:90811252-90811252	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1122T>C; p.H374H; 15:90760181-90760181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1910G>T; p.R637I; 15:90762993-90762993	breast	carcinoma	Substitution - Missense
c.2025G>T; p.A675A; 15:90763108-90763108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3420C>A; p.H1140Q; 15:90803582-90803582	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2695C>T; p.R899*; 15:90784953-90784953	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3836T>C; p.I1279T; 15:90809221-90809221	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4206G>T; p.P1402P; 15:90815231-90815231	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2406+2T>C; p.?; 15:90769233-90769233	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.4155T>C; p.T1385T; 15:90815180-90815180	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2474C>A; p.P825Q; 15:90769505-90769505	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.267C>T; p.F89F; 15:90749535-90749535	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3395G>T; p.G1132V; 15:90803557-90803557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3505G>A; p.A1169T; 15:90803667-90803667	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2291A>G; p.Y764C; 15:90767007-90767007	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3755C>T; p.S1252F; 15:90809140-90809140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.305G>A; p.G102D; 15:90749573-90749573	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4018C>T; p.P1340S; 15:90811348-90811348	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1275C>T; p.G425G; 15:90760648-90760648	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.861A>G; p.P287P; 15:90751848-90751848	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.685G>A; p.E229K; 15:90749953-90749953	breast	carcinoma	Substitution - Missense
c.4187T>A; p.L1396*; 15:90815212-90815212	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2984A>G; p.Y995C; 15:90790809-90790809	pancreas	carcinoma	Substitution - Missense
c.1738T>C; p.S580P; 15:90761111-90761111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1186T>C; p.C396R; 15:90760245-90760245	liver	carcinoma	Substitution - Missense
c.2227G>A; p.D743N; 15:90766943-90766943	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3131A>G; p.Y1044C; 15:90794278-90794278	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.835G>A; p.E279K; 15:90751822-90751822	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2313T>A; p.C771*; 15:90769138-90769138	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3575C>T; p.T1192I; 15:90804183-90804183	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2744C>T; p.A915V; 15:90785002-90785002	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.89C>T; p.P30L; 15:90747481-90747481	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.89C>T; p.P30L; 15:90747481-90747481	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1536delA; p.N515fs*16; 15:90760909-90760909	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.89C>T; p.P30L; 15:90747481-90747481	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3228T>C; p.D1076D; 15:90798207-90798207	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.3228T>C; p.D1076D; 15:90798207-90798207	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1995G>A; p.L665L; 15:90763078-90763078	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2951G>T; p.G984V; 15:90790776-90790776	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3323G>A; p.R1108K; 15:90798302-90798302	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3357G>A; p.L1119L; 15:90798336-90798336	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.10G>T; p.V4F; 15:90747402-90747402	skin	malignant_melanoma	Substitution - Missense
c.3922_3949del28; p.G1308fs*89; 15:90811252-90811279	breast	carcinoma	Deletion - Frameshift
c.3044C>T; p.T1015I; 15:90794191-90794191	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2161G>A; p.V721I; 15:90765382-90765382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2875C>T; p.R959*; 15:90790700-90790700	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1087G>T; p.A363S; 15:90754938-90754938	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1765G>T; p.E589*; 15:90761138-90761138	breast	carcinoma	Substitution - Nonsense
c.3224G>C; p.R1075T; 15:90798203-90798203	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1050G>A; p.M350I; 15:90754901-90754901	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4055C>T; p.S1352F; 15:90811385-90811385	breast	carcinoma	Substitution - Missense
c.98C>T; p.S33L; 15:90747490-90747490	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2407-1G>A; p.?; 15:90769437-90769437	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1063_1064CC>TT; p.P355L; 15:90754914-90754915	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.278C>A; p.A93D; 15:90749546-90749546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3282A>G; p.S1094S; 15:90798261-90798261	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1936A>G; p.S646G; 15:90763019-90763019	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3235G>A; p.D1079N; 15:90798214-90798214	urinary_tract; bladder	carcinoma	Substitution - Missense
c.143C>T; p.S48F; 15:90749411-90749411	skin	malignant_melanoma	Substitution - Missense
c.1882+1G>T; p.?; 15:90761256-90761256	breast	carcinoma	Unknown
c.2931T>C; p.S977S; 15:90790756-90790756	liver	carcinoma	Substitution - coding silent
c.297A>G; p.T99T; 15:90749565-90749565	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2413C>T; p.H805Y; 15:90769444-90769444	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2413C>T; p.H805Y; 15:90769444-90769444	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2931T>C; p.S977S; 15:90790756-90790756	liver	carcinoma	Substitution - coding silent
c.3958C>T; p.P1320S; 15:90811288-90811288	breast	carcinoma	Substitution - Missense
c.3768T>G; p.D1256E; 15:90809153-90809153	skin	malignant_melanoma	Substitution - Missense
c.1556A>G; p.Y519C; 15:90760929-90760929	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2117C>T; p.S706F; 15:90765338-90765338	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1556A>G; p.Y519C; 15:90760929-90760929	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3835A>G; p.I1279V; 15:90809220-90809220	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3835A>G; p.I1279V; 15:90809220-90809220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1978C>T; p.H660Y; 15:90763061-90763061	skin; abdomen	malignant_melanoma	Substitution - Missense
c.822T>C; p.N274N; 15:90751809-90751809	skin	malignant_melanoma	Substitution - coding silent
c.2423G>A; p.R808H; 15:90769454-90769454	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2108C>T; p.A703V; 15:90765329-90765329	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2108C>T; p.A703V; 15:90765329-90765329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.328G>T; p.D110Y; 15:90749596-90749596	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3108C>A; p.C1036*; 15:90794255-90794255	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1958A>T; p.K653M; 15:90763041-90763041	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2452C>T; p.R818C; 15:90769483-90769483	skin	malignant_melanoma	Substitution - Missense
c.205G>A; p.E69K; 15:90749473-90749473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.953G>C; p.C318S; 15:90751940-90751940	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3755C>A; p.S1252Y; 15:90809140-90809140	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4122C>T; p.S1374S; 15:90815147-90815147	skin; nipple	malignant_melanoma	Substitution - coding silent
c.2936G>C; p.R979T; 15:90790761-90790761	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2584C>T; p.L862L; 15:90782850-90782850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.440C>A; p.S147Y; 15:90749708-90749708	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1439C>T; p.S480F; 15:90760812-90760812	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3426C>T; p.A1142A; 15:90803588-90803588	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4101A>G; p.I1367M; 15:90815126-90815126	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3980C>A; p.A1327E; 15:90811310-90811310	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3559G>T; p.V1187L; 15:90804167-90804167	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4101A>G; p.I1367M; 15:90815126-90815126	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2625A>G; p.A875A; 15:90782891-90782891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3210+3A>G; p.?; 15:90794360-90794360	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1478A>G; p.N493S; 15:90760851-90760851	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2489C>T; p.T830M; 15:90769520-90769520	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3427G>A; p.E1143K; 15:90803589-90803589	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2489C>T; p.T830M; 15:90769520-90769520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3431G>T; p.R1144I; 15:90803593-90803593	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1286G>A; p.R429K; 15:90760659-90760659	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.875A>G; p.D292G; 15:90751862-90751862	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4128C>A; p.I1376I; 15:90815153-90815153	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1911A>G; p.R637R; 15:90762994-90762994	breast	carcinoma	Substitution - coding silent
c.550C>G; p.Q184E; 15:90749818-90749818	breast	carcinoma	Substitution - Missense
c.2050G>T; p.D684Y; 15:90763133-90763133	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2351A>G; p.Y784C; 15:90769176-90769176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3646delA; p.K1217fs*62; 15:90804254-90804254	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3558+1G>T; p.?; 15:90803721-90803721	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Unknown
c.3646delA; p.K1217fs*62; 15:90804254-90804254	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3646delA; p.K1217fs*62; 15:90804254-90804254	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2583T>C; p.N861N; 15:90782849-90782849	prostate	carcinoma	Substitution - coding silent
c.2103C>T; p.L701L; 15:90765324-90765324	skin	malignant_melanoma	Substitution - coding silent
c.863G>T; p.C288F; 15:90751850-90751850	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3378C>T; p.I1126I; 15:90803540-90803540	skin	malignant_melanoma	Substitution - coding silent
c.723C>T; p.G241G; 15:90749991-90749991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3961G>T; p.V1321L; 15:90811291-90811291	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.394C>T; p.R132W; 15:90749662-90749662	skin	malignant_melanoma	Substitution - Missense
c.4184A>T; p.K1395I; 15:90815209-90815209	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2535G>A; p.L845L; 15:90769566-90769566	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1535_1536insA; p.N515fs*2; 15:90760908-90760909	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2262delA; p.D757fs*4; 15:90766978-90766978	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2262delA; p.D757fs*4; 15:90766978-90766978	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.799+7A>G; p.?; 15:90750074-90750074	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Unknown
c.2262delA; p.D757fs*4; 15:90766978-90766978	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2262delA; p.D757fs*4; 15:90766978-90766978	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2262delA; p.D757fs*4; 15:90766978-90766978	stomach	adenocarcinoma	Deletion - Frameshift
c.2968C>A; p.L990M; 15:90790793-90790793	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4068G>A; p.K1356K; 15:90811398-90811398	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.360C>T; p.C120C; 15:90749628-90749628	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1798C>T; p.L600F; 15:90761171-90761171	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3008G>A; p.R1003K; 15:90790833-90790833	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3082C>T; p.H1028Y; 15:90794229-90794229	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1806A>G; p.S602S; 15:90761179-90761179	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3563A>T; p.D1188V; 15:90804171-90804171	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4243G>T; p.A1415S; 15:90815268-90815268	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1693G>A; p.D565N; 15:90761066-90761066	breast	carcinoma	Substitution - Missense
c.4018C>A; p.P1340T; 15:90811348-90811348	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1883-10A>G; p.?; 15:90762956-90762956	pancreas	carcinoma	Unknown
c.551A>T; p.Q184L; 15:90749819-90749819	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2407T>C; p.W803R; 15:90769438-90769438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3900C>T; p.S1300S; 15:90811230-90811230	skin	malignant_melanoma	Substitution - coding silent
c.1018G>T; p.D340Y; 15:90754869-90754869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1939C>A; p.L647I; 15:90763022-90763022	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2310C>G; p.I770M; 15:90769135-90769135	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1927C>T; p.R643C; 15:90763010-90763010	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1927C>T; p.R643C; 15:90763010-90763010	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4014G>T; p.K1338N; 15:90811344-90811344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2468C>T; p.S823F; 15:90769499-90769499	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.699C>T; p.S233S; 15:90749967-90749967	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2478G>A; p.V826V; 15:90769509-90769509	breast	carcinoma	Substitution - coding silent
c.2144C>T; p.P715L; 15:90765365-90765365	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3381G>T; p.Q1127H; 15:90803543-90803543	breast	carcinoma	Substitution - Missense
c.79C>T; p.L27F; 15:90747471-90747471	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.373A>C; p.T125P; 15:90749641-90749641	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1312C>T; p.P438S; 15:90760685-90760685	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1257T>C; p.S419S; 15:90760630-90760630	liver	carcinoma	Substitution - coding silent
c.1337C>T; p.T446I; 15:90760710-90760710	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.89C>G; p.P30R; 15:90747481-90747481	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1000G>A; p.V334I; 15:90754851-90754851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1462G>C; p.E488Q; 15:90760835-90760835	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3849G>T; p.Q1283H; 15:90809234-90809234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.873T>C; p.F291F; 15:90751860-90751860	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3039T>C; p.H1013H; 15:90794186-90794186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4140T>G; p.S1380R; 15:90815165-90815165	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1576A>C; p.T526P; 15:90760949-90760949	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1576A>C; p.T526P; 15:90760949-90760949	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1980T>A; p.H660Q; 15:90763063-90763063	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1044G>A; p.M348I; 15:90754895-90754895	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1980T>A; p.H660Q; 15:90763063-90763063	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation