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	4846
Symbol	NOS3
Synonymous	ECNOS\|eNOS
Full name	nitric oxide synthase 3 (endothelial cell)
Gene description	EC-NOS\|NOS type III\|NOSIII\|cNOS\|constitutive NOS\|endothelial NOS\|nitric oxide synthase 3 transcript variant eNOS-delta20\|nitric oxide synthase 3 transcript variant eNOS-delta20-21\|nitric oxide synthase 3 transcript variant eNOS-delta21\|nitric oxide syntha
Cytoband	7q36
Gene type	protein-coding
Synonymous	MIM:163729; HGNC:HGNC:7876; Ensembl:ENSG00000164867; HPRD:01224; Vega:OTTHUMG00000158343

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1300G>C; p.E434Q; 7:151001297-151001297	urinary_tract; bladder	carcinoma	Substitution - Missense
c.901G>A; p.E301K; 7:150999030-150999030	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2536C>T; p.R846W; 7:151010138-151010138	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3593C>T; p.S1198L; 7:151014150-151014150	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3306C>T; p.R1102R; 7:151013774-151013774	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3379G>A; p.V1127M; 7:151013847-151013847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3262G>T; p.V1088L; 7:151013730-151013730	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3027C>A; p.C1009*; 7:151012393-151012393	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.589G>A; p.D197N; 7:150998363-150998363	skin	malignant_melanoma	Substitution - Missense
c.1850C>T; p.S617F; 7:151006918-151006918	skin	malignant_melanoma	Substitution - Missense
c.1805G>A; p.R602Q; 7:151006479-151006479	pancreas	carcinoma	Substitution - Missense
c.1805G>A; p.R602Q; 7:151006479-151006479	pancreas	carcinoma	Substitution - Missense
c.1056C>A; p.P352P; 7:150999289-150999289	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1805G>A; p.R602Q; 7:151006479-151006479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.170C>A; p.S57Y; 7:150995214-150995214	skin	malignant_melanoma	Substitution - Missense
c.1805G>A; p.R602Q; 7:151006479-151006479	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1805G>A; p.R602Q; 7:151006479-151006479	pancreas	carcinoma	Substitution - Missense
c.1968A>G; p.A656A; 7:151007132-151007132	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.812C>G; p.T271S; 7:150998676-150998676	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.390C>T; p.F130F; 7:150996523-150996523	skin	malignant_melanoma	Substitution - coding silent
c.1177C>T; p.L393L; 7:151000543-151000543	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2282C>T; p.A761V; 7:151009225-151009225	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.31C>G; p.P11A; 7:150993834-150993834	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.951C>T; p.H317H; 7:150999080-150999080	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2678T>G; p.L893R; 7:151010280-151010280	ovary	other; neoplasm	Substitution - Missense
c.3063C>T; p.F1021F; 7:151012429-151012429	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2375A>C; p.Q792P; 7:151009448-151009448	liver	carcinoma	Substitution - Missense
c.231G>A; p.G77G; 7:150995275-150995275	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2375A>C; p.Q792P; 7:151009448-151009448	liver	carcinoma	Substitution - Missense
c.499G>A; p.E167K; 7:150996842-150996842	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.845G>A; p.G282E; 7:150998974-150998974	NS	malignant_melanoma	Substitution - Missense
c.845G>A; p.G282E; 7:150998974-150998974	skin	malignant_melanoma	Substitution - Missense
c.845G>A; p.G282E; 7:150998974-150998974	NS	malignant_melanoma	Substitution - Missense
c.845G>A; p.G282E; 7:150998974-150998974	NS	malignant_melanoma	Substitution - Missense
c.2415C>G; p.N805K; 7:151009488-151009488	pancreas	carcinoma	Substitution - Missense
c.916C>A; p.P306T; 7:150999045-150999045	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2525C>T; p.P842L; 7:151010127-151010127	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1972C>A; p.P658T; 7:151007136-151007136	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.445C>T; p.R149W; 7:150996788-150996788	central_nervous_system; brain	glioma	Substitution - Missense
c.1155G>A; p.L385L; 7:151000521-151000521	skin	malignant_melanoma	Substitution - coding silent
c.1972C>A; p.P658T; 7:151007136-151007136	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2227_2228GG>AT; p.G743I; 7:151009044-151009045	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.41C>T; p.P14L; 7:150993844-150993844	skin	malignant_melanoma	Substitution - Missense
c.836G>A; p.W279*; 7:150998965-150998965	skin	malignant_melanoma	Substitution - Nonsense
c.2006C>T; p.T669I; 7:151007170-151007170	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1317G>A; p.G439G; 7:151001314-151001314	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1627C>T; p.R543W; 7:151001945-151001945	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1344C>A; p.I448I; 7:151001341-151001341	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1453G>A; p.A485T; 7:151001568-151001568	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1257C>G; p.D419E; 7:151001254-151001254	skin	malignant_melanoma	Substitution - Missense
c.404A>G; p.Y135C; 7:150996537-150996537	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1267G>A; p.A423T; 7:151001264-151001264	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1087G>A; p.G363S; 7:150999320-150999320	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1732G>A; p.D578N; 7:151002284-151002284	skin	malignant_melanoma	Substitution - Missense
c.1267G>A; p.A423T; 7:151001264-151001264	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1087G>A; p.G363S; 7:150999320-150999320	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1398C>T; p.N466N; 7:151001395-151001395	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1156G>T; p.D386Y; 7:151000522-151000522	breast	carcinoma	Substitution - Missense
c.1503-5C>T; p.?; 7:151001816-151001816	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.1156G>T; p.D386Y; 7:151000522-151000522	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2224G>C; p.E742Q; 7:151009041-151009041	breast	carcinoma	Substitution - Missense
c.1679C>A; p.S560Y; 7:151002231-151002231	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1734T>C; p.D578D; 7:151002286-151002286	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2266C>T; p.R756W; 7:151009209-151009209	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1549C>G; p.R517G; 7:151001867-151001867	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>C; p.V249L; 7:150998609-150998609	prostate	carcinoma	Substitution - Missense
c.1429-1G>T; p.?; 7:151001543-151001543	lung	carcinoma; small_cell_carcinoma	Unknown
c.86A>C; p.Q29P; 7:150993889-150993889	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.956+1G>T; p.?; 7:150999086-150999086	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2246-9C>A; p.?; 7:151009180-151009180	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3128C>G; p.T1043S; 7:151013252-151013252	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.164C>T; p.P55L; 7:150995208-150995208	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2624G>A; p.R875Q; 7:151010226-151010226	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1602C>T; p.Y534Y; 7:151001920-151001920	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1373C>T; p.P458L; 7:151001370-151001370	skin	malignant_melanoma	Substitution - Missense
c.2269delA; p.K757fs*43; 7:151009212-151009212	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1742A>C; p.E581A; 7:151002294-151002294	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.501G>C; p.E167D; 7:150996844-150996844	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2776C>T; p.P926S; 7:151010687-151010687	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2056G>T; p.D686Y; 7:151007220-151007220	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2460G>A; p.P820P; 7:151009533-151009533	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3480C>T; p.F1160F; 7:151014037-151014037	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.893A>C; p.D298A; 7:150999022-150999022	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2675C>T; p.A892V; 7:151010277-151010277	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3064C>T; p.R1022W; 7:151012430-151012430	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.445C>A; p.R149R; 7:150996788-150996788	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.28G>T; p.E10*; 7:150993831-150993831	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.748C>T; p.R250C; 7:150998612-150998612	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1316G>T; p.G439V; 7:151001313-151001313	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2476C>G; p.P826A; 7:151009549-151009549	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3047C>A; p.T1016N; 7:151012413-151012413	liver	carcinoma	Substitution - Missense
c.916delC; p.E308fs*51; 7:150999045-150999045	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.1294G>A; p.E432K; 7:151001291-151001291	skin	malignant_melanoma	Substitution - Missense
c.940C>G; p.P314A; 7:150999069-150999069	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3526C>G; p.Q1176E; 7:151014083-151014083	liver	carcinoma	Substitution - Missense
c.3526C>G; p.Q1176E; 7:151014083-151014083	liver	carcinoma	Substitution - Missense
c.666C>G; p.G222G; 7:150998440-150998440	skin	malignant_melanoma	Substitution - coding silent
c.1524G>A; p.S508S; 7:151001842-151001842	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1380C>T; p.F460F; 7:151001377-151001377	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1380C>T; p.F460F; 7:151001377-151001377	skin	malignant_melanoma	Substitution - coding silent
c.1167C>T; p.T389T; 7:151000533-151000533	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1645C>T; p.R549W; 7:151001963-151001963	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1397A>G; p.N466S; 7:151001394-151001394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1412C>T; p.P471L; 7:151001409-151001409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3193C>A; p.Q1065K; 7:151013317-151013317	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1321T>A; p.C441S; 7:151001318-151001318	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2802G>T; p.L934L; 7:151010713-151010713	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1835G>A; p.R612H; 7:151006903-151006903	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1420C>T; p.R474C; 7:151001417-151001417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1420C>T; p.R474C; 7:151001417-151001417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1108C>T; p.P370S; 7:150999341-150999341	NS	malignant_melanoma	Substitution - Missense
c.1092G>A; p.T364T; 7:150999325-150999325	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1690G>A; p.E564K; 7:151002242-151002242	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.3087G>C; p.L1029L; 7:151012453-151012453	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.725G>A; p.R242Q; 7:150998589-150998589	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.201G>C; p.K67N; 7:150995245-150995245	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3469G>A; p.E1157K; 7:151014026-151014026	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1225A>G; p.S409G; 7:151000591-151000591	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1834C>T; p.R612C; 7:151006902-151006902	pancreas	carcinoma	Substitution - Missense
c.1834C>T; p.R612C; 7:151006902-151006902	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1994G>A; p.R665H; 7:151007158-151007158	pancreas	carcinoma	Substitution - Missense
c.2347C>A; p.L783M; 7:151009420-151009420	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1700T>C; p.V567A; 7:151002252-151002252	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1330G>A; p.D444N; 7:151001327-151001327	breast	carcinoma	Substitution - Missense
c.497G>T; p.R166M; 7:150996840-150996840	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2910C>G; p.P970P; 7:151010912-151010912	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.986G>A; p.R329H; 7:150999219-150999219	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1700T>C; p.V567A; 7:151002252-151002252	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.854G>A; p.R285H; 7:150998983-150998983	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1479G>T; p.K493N; 7:151001594-151001594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1024G>A; p.E342K; 7:150999257-150999257	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3146G>A; p.R1049Q; 7:151013270-151013270	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2011C>T; p.L671L; 7:151007175-151007175	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2039T>G; p.L680R; 7:151007203-151007203	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2162G>A; p.R721Q; 7:151008979-151008979	skin	malignant_melanoma	Substitution - Missense
c.993C>T; p.Y331Y; 7:150999226-150999226	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2098C>T; p.Q700*; 7:151007262-151007262	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2205C>T; p.Y735Y; 7:151009022-151009022	skin	malignant_melanoma	Substitution - coding silent
c.2586C>T; p.F862F; 7:151010188-151010188	skin	malignant_melanoma	Substitution - coding silent
c.1094G>A; p.R365K; 7:150999327-150999327	skin	malignant_melanoma	Substitution - Missense
c.2184G>A; p.R728R; 7:151009001-151009001	skin; trunk	malignant_melanoma; nodular	Substitution - coding silent
c.1861C>A; p.P621T; 7:151006929-151006929	ovary	other; neoplasm	Substitution - Missense
c.316C>T; p.P106S; 7:150996449-150996449	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1030G>A; p.G344R; 7:150999263-150999263	skin	malignant_melanoma	Substitution - Missense
c.2224G>A; p.E742K; 7:151009041-151009041	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1943G>C; p.C648S; 7:151007107-151007107	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.641A>T; p.H214L; 7:150998415-150998415	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.641A>T; p.H214L; 7:150998415-150998415	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.226G>T; p.V76L; 7:150995270-150995270	ovary	other; neoplasm	Substitution - Missense
c.2113-4G>T; p.?; 7:151008926-151008926	breast	carcinoma	Unknown
c.1904A>C; p.N635T; 7:151006972-151006972	skin	malignant_melanoma	Substitution - Missense
c.686C>A; p.T229K; 7:150998550-150998550	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.264G>A; p.A88A; 7:150995308-150995308	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.179C>A; p.T60N; 7:150995223-150995223	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3163C>A; p.H1055N; 7:151013287-151013287	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2056G>A; p.D686N; 7:151007220-151007220	skin	malignant_melanoma	Substitution - Missense
c.625A>G; p.T209A; 7:150998399-150998399	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2056G>A; p.D686N; 7:151007220-151007220	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2027G>T; p.G676V; 7:151007191-151007191	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1224C>T; p.H408H; 7:151000590-151000590	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3085C>T; p.L1029L; 7:151012451-151012451	kidney	other; neoplasm	Substitution - coding silent
c.615G>A; p.Q205Q; 7:150998389-150998389	skin	malignant_melanoma	Substitution - coding silent
c.1998C>G; p.A666A; 7:151007162-151007162	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1681C>T; p.L561F; 7:151002233-151002233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.774T>C; p.D258D; 7:150998638-150998638	thyroid	other; neoplasm	Substitution - coding silent
c.2068G>A; p.G690S; 7:151007232-151007232	central_nervous_system; brain	glioma	Substitution - Missense
c.774T>C; p.D258D; 7:150998638-150998638	thyroid	other; neoplasm	Substitution - coding silent
c.774T>C; p.D258D; 7:150998638-150998638	thyroid	other; neoplasm	Substitution - coding silent
c.2182C>T; p.R728W; 7:151008999-151008999	pancreas	carcinoma	Substitution - Missense
c.1410C>T; p.S470S; 7:151001407-151001407	skin	malignant_melanoma	Substitution - coding silent
c.1132-3C>T; p.?; 7:151000495-151000495	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1867G>A; p.V623M; 7:151006935-151006935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1313delG; p.G440fs*64; 7:151001310-151001310	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3346G>A; p.D1116N; 7:151013814-151013814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1313delG; p.G440fs*64; 7:151001310-151001310	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1313delG; p.G440fs*64; 7:151001310-151001310	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1313delG; p.G440fs*64; 7:151001310-151001310	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1313delG; p.G440fs*64; 7:151001310-151001310	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1974C>T; p.P658P; 7:151007138-151007138	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1313delG; p.G440fs*64; 7:151001310-151001310	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1313delG; p.G440fs*64; 7:151001310-151001310	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1313delG; p.G440fs*64; 7:151001310-151001310	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.915_916insC; p.E308fs*5; 7:150999044-150999045	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1313delG; p.G440fs*64; 7:151001310-151001310	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1313delG; p.G440fs*64; 7:151001310-151001310	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1313delG; p.G440fs*64; 7:151001310-151001310	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1503C>T; p.N501N; 7:151001821-151001821	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.981C>T; p.G327G; 7:150999214-150999214	skin	malignant_melanoma	Substitution - coding silent
c.877C>T; p.L293L; 7:150999006-150999006	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1344C>T; p.I448I; 7:151001341-151001341	skin	malignant_melanoma	Substitution - coding silent
c.3504G>A; p.E1168E; 7:151014061-151014061	prostate	carcinoma	Substitution - coding silent
c.1941C>T; p.F647F; 7:151007105-151007105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2704G>A; p.E902K; 7:151010615-151010615	skin	malignant_melanoma	Substitution - Missense
c.1494A>G; p.E498E; 7:151001609-151001609	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3562G>T; p.A1188S; 7:151014119-151014119	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1462A>G; p.T488A; 7:151001577-151001577	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.51G>A; p.L17L; 7:150993854-150993854	skin	malignant_melanoma	Substitution - coding silent
c.2934G>A; p.T978T; 7:151010936-151010936	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.695C>T; p.P232L; 7:150998559-150998559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3021G>A; p.L1007L; 7:151012387-151012387	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1039G>A; p.E347K; 7:150999272-150999272	skin	malignant_melanoma	Substitution - Missense
c.1421G>A; p.R474H; 7:151001418-151001418	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3318C>T; p.L1106L; 7:151013786-151013786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2224G>T; p.E742*; 7:151009041-151009041	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1421G>A; p.R474H; 7:151001418-151001418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>A; p.E272K; 7:150998678-150998678	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2345G>A; p.R782H; 7:151009418-151009418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1996G>T; p.A666S; 7:151007160-151007160	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1518C>T; p.S506S; 7:151001836-151001836	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2623C>T; p.R875W; 7:151010225-151010225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.858C>T; p.F286F; 7:150998987-150998987	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.804G>A; p.V268V; 7:150998668-150998668	skin	malignant_melanoma	Substitution - coding silent
c.1435C>A; p.P479T; 7:151001550-151001550	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1774G>A; p.E592K; 7:151006448-151006448	skin	malignant_melanoma	Substitution - Missense
c.1774G>A; p.E592K; 7:151006448-151006448	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1422C>T; p.R474R; 7:151001419-151001419	breast	carcinoma	Substitution - coding silent
c.1276T>C; p.S426P; 7:151001273-151001273	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.616G>A; p.E206K; 7:150998390-150998390	skin	malignant_melanoma	Substitution - Missense
c.2211G>A; p.L737L; 7:151009028-151009028	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.45C>T; p.C15C; 7:150993848-150993848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2211G>A; p.L737L; 7:151009028-151009028	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2789C>T; p.T930I; 7:151010700-151010700	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1529T>C; p.M510T; 7:151001847-151001847	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3178G>A; p.E1060K; 7:151013302-151013302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2686G>T; p.D896Y; 7:151010597-151010597	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1663G>A; p.E555K; 7:151002215-151002215	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1648-3C>T; p.?; 7:151002197-151002197	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2521delC; p.G843fs*115; 7:151010123-151010123	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1440G>A; p.W480*; 7:151001555-151001555	NS	malignant_melanoma	Substitution - Nonsense
c.2521delC; p.G843fs*115; 7:151010123-151010123	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1887G>A; p.K629K; 7:151006955-151006955	breast	carcinoma	Substitution - coding silent
c.1750G>A; p.E584K; 7:151002302-151002302	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.754G>A; p.A252T; 7:150998618-150998618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1984G>A; p.A662T; 7:151007148-151007148	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2992T>G; p.S998A; 7:151012358-151012358	ovary	other; neoplasm	Substitution - Missense
c.57G>A; p.L19L; 7:150993860-150993860	skin	malignant_melanoma	Substitution - coding silent
c.1186G>A; p.D396N; 7:151000552-151000552	skin	malignant_melanoma	Substitution - Missense
c.57G>A; p.L19L; 7:150993860-150993860	skin	malignant_melanoma	Substitution - coding silent
c.767A>G; p.Q256R; 7:150998631-150998631	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2386G>A; p.G796R; 7:151009459-151009459	skin; trunk	malignant_melanoma	Substitution - Missense
c.1114C>T; p.R372C; 7:150999347-150999347	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1596G>C; p.Q532H; 7:151001914-151001914	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2957G>A; p.G986E; 7:151010959-151010959	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1603G>A; p.A535T; 7:151001921-151001921	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1559C>T; p.A520V; 7:151001877-151001877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.393C>G; p.I131M; 7:150996526-150996526	pancreas	carcinoma	Substitution - Missense
c.3321G>T; p.E1107D; 7:151013789-151013789	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2029G>A; p.E677K; 7:151007193-151007193	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.785G>A; p.R262Q; 7:150998649-150998649	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.131C>T; p.S44F; 7:150993934-150993934	NS	malignant_melanoma	Substitution - Missense
c.2810C>T; p.P937L; 7:151010721-151010721	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2810C>T; p.P937L; 7:151010721-151010721	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3211G>T; p.G1071C; 7:151013335-151013335	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.790G>A; p.D264N; 7:150998654-150998654	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2155G>A; p.A719T; 7:151008972-151008972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1952G>A; p.G651E; 7:151007116-151007116	skin	malignant_melanoma	Substitution - Missense
c.620T>A; p.M207K; 7:150998394-150998394	prostate	carcinoma	Substitution - Missense
c.3322C>T; p.R1108W; 7:151013790-151013790	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1420C>A; p.R474S; 7:151001417-151001417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3515G>A; p.R1172H; 7:151014072-151014072	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.419G>T; p.R140M; 7:150996552-150996552	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1577C>T; p.S526F; 7:151001895-151001895	skin	malignant_melanoma	Substitution - Missense
c.1577C>T; p.S526F; 7:151001895-151001895	skin	malignant_melanoma	Substitution - Missense
c.1919G>T; p.G640V; 7:151006987-151006987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1375G>A; p.V459I; 7:151001372-151001372	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.941C>T; p.P314L; 7:150999070-150999070	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.953C>T; p.P318L; 7:150999082-150999082	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation