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	10371
Symbol	SEMA3A
Synonymous	COLL1\|HH16\|Hsema-I\|Hsema-III\|SEMA1\|SEMAD\|SEMAIII\|SEMAL\|SemD\|coll-1
Full name	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
Gene description	collapsin 1\|semaphorin D\|semaphorin III\|semaphorin L\|semaphorin-3A
Cytoband	7p12.1
Gene type	protein-coding
Synonymous	MIM:603961; HGNC:HGNC:10723; Ensembl:ENSG00000075213; HPRD:04908; Vega:OTTHUMG00000023443

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1033A>G; p.M345V; 7:84007460-84007460	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.155C>G; p.A52G; 7:84134909-84134909	thyroid	carcinoma	Substitution - Missense
c.92G>T; p.R31M; 7:84194495-84194495	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.187G>A; p.D63N; 7:84134877-84134877	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.550G>A; p.G184R; 7:84046441-84046441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.37G>A; p.G13R; 7:84194550-84194550	skin	malignant_melanoma	Substitution - Missense
c.1126C>A; p.P376T; 7:84007367-84007367	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2189G>A; p.R730Q; 7:83961498-83961498	skin	malignant_melanoma	Substitution - Missense
c.2189G>A; p.R730Q; 7:83961498-83961498	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1186C>T; p.P396S; 7:84005513-84005513	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1399G>C; p.E467Q; 7:84002008-84002008	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1399G>C; p.E467Q; 7:84002008-84002008	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1672A>T; p.I558L; 7:83977177-83977177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.527T>A; p.L176Q; 7:84060485-84060485	breast	carcinoma	Substitution - Missense
c.922C>A; p.L308M; 7:84011186-84011186	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.479C>T; p.S160L; 7:84060533-84060533	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1654C>T; p.R552C; 7:83977195-83977195	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1388C>G; p.S463*; 7:84002019-84002019	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.955C>G; p.P319A; 7:84011062-84011062	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1886G>A; p.R629K; 7:83961801-83961801	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1189G>A; p.D397N; 7:84005510-84005510	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.206T>C; p.L69P; 7:84134858-84134858	liver	carcinoma	Substitution - Missense
c.448C>A; p.P150T; 7:84110475-84110475	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1894C>G; p.Q632E; 7:83961793-83961793	urinary_tract; bladder	carcinoma	Substitution - Missense
c.148_149GG>AA; p.G50N; 7:84134915-84134916	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.47T>G; p.L16R; 7:84194540-84194540	urinary_tract; bladder	carcinoma	Substitution - Missense
c.656G>A; p.R219K; 7:84046335-84046335	liver	carcinoma	Substitution - Missense
c.1076G>A; p.R359K; 7:84007417-84007417	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.656G>A; p.R219K; 7:84046335-84046335	liver	carcinoma	Substitution - Missense
c.1957G>A; p.E653K; 7:83961730-83961730	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2037A>C; p.K679N; 7:83961650-83961650	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2185G>T; p.D729Y; 7:83961502-83961502	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.236C>T; p.S79L; 7:84134828-84134828	skin	malignant_melanoma	Substitution - Missense
c.2229C>A; p.N743K; 7:83961458-83961458	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.336A>G; p.K112K; 7:84110587-84110587	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1624T>A; p.C542S; 7:83981349-83981349	liver	carcinoma	Substitution - Missense
c.193G>A; p.E65K; 7:84134871-84134871	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.128A>G; p.N43S; 7:84134936-84134936	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.242A>T; p.D81V; 7:84134822-84134822	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1354G>A; p.G452R; 7:84005345-84005345	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.670C>T; p.P224S; 7:84014349-84014349	skin	malignant_melanoma	Substitution - Missense
c.1100T>G; p.V367G; 7:84007393-84007393	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.608G>A; p.R203Q; 7:84046383-84046383	skin	malignant_melanoma	Substitution - Missense
c.537C>T; p.S179S; 7:84060475-84060475	skin	malignant_melanoma	Substitution - coding silent
c.1299A>C; p.Q433H; 7:84005400-84005400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.608G>A; p.R203Q; 7:84046383-84046383	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1194T>A; p.D398E; 7:84005505-84005505	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1838G>A; p.R613Q; 7:83963227-83963227	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.678C>T; p.F226F; 7:84014341-84014341	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1838G>A; p.R613Q; 7:83963227-83963227	skin	malignant_melanoma	Substitution - Missense
c.1838G>A; p.R613Q; 7:83963227-83963227	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1838G>A; p.R613Q; 7:83963227-83963227	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1838G>A; p.R613Q; 7:83963227-83963227	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2098A>G; p.K700E; 7:83961589-83961589	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.514G>T; p.D172Y; 7:84060498-84060498	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2111G>A; p.R704K; 7:83961576-83961576	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.883G>T; p.V295L; 7:84011225-84011225	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.307T>G; p.C103G; 7:84129149-84129149	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.944A>C; p.N315T; 7:84011073-84011073	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.278_279GG>TA; p.W93>?; 7:84129177-84129178	lung	carcinoma; adenocarcinoma	Complex
c.92G>A; p.R31K; 7:84194495-84194495	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1979T>C; p.L660P; 7:83961708-83961708	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.821G>T; p.G274V; 7:84011287-84011287	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.127A>G; p.N43D; 7:84134937-84134937	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1740T>C; p.P580P; 7:83963325-83963325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1514C>T; p.S505L; 7:83981459-83981459	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2200C>T; p.R734W; 7:83961487-83961487	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.375T>C; p.N125N; 7:84110548-84110548	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1545C>T; p.H515H; 7:83981428-83981428	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.518C>A; p.P173H; 7:84060494-84060494	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.234T>A; p.F78L; 7:84134830-84134830	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.196C>T; p.R66W; 7:84134868-84134868	urinary_tract; bladder	carcinoma	Substitution - Missense
c.552A>C; p.G184G; 7:84046439-84046439	breast	carcinoma	Substitution - coding silent
c.885G>A; p.V295V; 7:84011223-84011223	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2207G>T; p.R736M; 7:83961480-83961480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1448T>G; p.F483C; 7:84001959-84001959	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1837C>T; p.R613*; 7:83963228-83963228	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.849G>A; p.W283*; 7:84011259-84011259	skin	malignant_melanoma	Substitution - Nonsense
c.160A>T; p.S54C; 7:84134904-84134904	skin	malignant_melanoma	Substitution - Missense
c.2086A>G; p.T696A; 7:83961601-83961601	skin	malignant_melanoma	Substitution - Missense
c.1797G>A; p.P599P; 7:83963268-83963268	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.128A>T; p.N43I; 7:84134936-84134936	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1661G>A; p.R554K; 7:83977188-83977188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1797G>A; p.P599P; 7:83963268-83963268	skin	malignant_melanoma	Substitution - coding silent
c.1797G>A; p.P599P; 7:83963268-83963268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2054G>T; p.G685V; 7:83961633-83961633	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.552delA; p.E185fs*68; 7:84046439-84046439	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.80A>G; p.N27S; 7:84194507-84194507	breast	carcinoma	Substitution - Missense
c.1802C>T; p.S601L; 7:83963263-83963263	skin	malignant_melanoma	Substitution - Missense
c.2163C>T; p.F721F; 7:83961524-83961524	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1130G>C; p.R377P; 7:84007363-84007363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.964C>T; p.P322S; 7:84011053-84011053	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.926A>G; p.Q309R; 7:84011091-84011091	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.406G>C; p.A136P; 7:84110517-84110517	skin	malignant_melanoma	Substitution - Missense
c.267A>G; p.Q89Q; 7:84134797-84134797	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.663C>T; p.L221L; 7:84046328-84046328	skin	malignant_melanoma	Substitution - coding silent
c.177C>A; p.T59T; 7:84134887-84134887	breast	carcinoma	Substitution - coding silent
c.69G>A; p.Q23Q; 7:84194518-84194518	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.406G>T; p.A136S; 7:84110517-84110517	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.952G>T; p.D318Y; 7:84011065-84011065	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.382C>G; p.H128D; 7:84110541-84110541	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.263T>G; p.F88C; 7:84134801-84134801	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.857T>C; p.F286S; 7:84011251-84011251	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.472G>A; p.E158K; 7:84060540-84060540	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1709T>C; p.L570S; 7:83977140-83977140	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1121C>T; p.P374L; 7:84007372-84007372	skin	malignant_melanoma	Substitution - Missense
c.1676G>T; p.R559I; 7:83977173-83977173	oesophagus	carcinoma	Substitution - Missense
c.1009G>T; p.G337*; 7:84007484-84007484	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.301G>A; p.D101N; 7:84129155-84129155	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1588G>A; p.A530T; 7:83981385-83981385	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1440G>T; p.M480I; 7:84001967-84001967	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1992C>A; p.T664T; 7:83961695-83961695	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1650G>A; p.K550K; 7:83981323-83981323	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1650G>A; p.K550K; 7:83981323-83981323	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1440G>T; p.M480I; 7:84001967-84001967	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1730G>T; p.G577V; 7:83963335-83963335	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1255C>T; p.R419C; 7:84005444-84005444	skin	malignant_melanoma	Substitution - Missense
c.402G>A; p.T134T; 7:84110521-84110521	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.186G>A; p.L62L; 7:84134878-84134878	skin	malignant_melanoma	Substitution - coding silent
c.2158G>T; p.E720*; 7:83961529-83961529	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.933A>G; p.V311V; 7:84011084-84011084	liver	carcinoma	Substitution - coding silent
c.475A>T; p.N159Y; 7:84060537-84060537	oesophagus	carcinoma	Substitution - Missense
c.1608T>C; p.A536A; 7:83981365-83981365	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.933A>G; p.V311V; 7:84011084-84011084	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.931G>A; p.V311I; 7:84011086-84011086	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.390C>T; p.Y130Y; 7:84110533-84110533	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.1115G>A; p.R372K; 7:84007378-84007378	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.390C>T; p.Y130Y; 7:84110533-84110533	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.411delT; p.H138fs*39; 7:84110512-84110512	skin	malignant_melanoma	Deletion - Frameshift
c.27T>C; p.C9C; 7:84194560-84194560	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1274C>T; p.T425M; 7:84005425-84005425	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.197G>A; p.R66Q; 7:84134867-84134867	skin	malignant_melanoma	Substitution - Missense
c.2197C>T; p.R733C; 7:83961490-83961490	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1130G>A; p.R377Q; 7:84007363-84007363	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.770C>T; p.S257F; 7:84014249-84014249	skin	malignant_melanoma	Substitution - Missense
c.190G>A; p.E64K; 7:84134874-84134874	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.929A>G; p.D310G; 7:84011088-84011088	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2048G>A; p.G683E; 7:83961639-83961639	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1275G>A; p.T425T; 7:84005424-84005424	skin	malignant_melanoma	Substitution - coding silent
c.1393C>T; p.P465S; 7:84002014-84002014	skin	malignant_melanoma	Substitution - Missense
c.2006A>G; p.D669G; 7:83961681-83961681	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.334-1G>A; p.?; 7:84110590-84110590	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Unknown
c.1655G>A; p.R552H; 7:83977194-83977194	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1655G>A; p.R552H; 7:83977194-83977194	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1655G>A; p.R552H; 7:83977194-83977194	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.962A>G; p.N321S; 7:84011055-84011055	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.501G>A; p.G167G; 7:84060511-84060511	skin	malignant_melanoma	Substitution - coding silent
c.390C>A; p.Y130*; 7:84110533-84110533	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1956G>A; p.V652V; 7:83961731-83961731	skin	malignant_melanoma	Substitution - coding silent
c.390C>A; p.Y130*; 7:84110533-84110533	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1991C>T; p.T664I; 7:83961696-83961696	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1056C>G; p.F352L; 7:84007437-84007437	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1640C>T; p.P547L; 7:83981333-83981333	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.52G>A; p.A18T; 7:84194535-84194535	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1855G>T; p.E619*; 7:83963210-83963210	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1177A>G; p.K393E; 7:84005522-84005522	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1568C>G; p.A523G; 7:83981405-83981405	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1836G>T; p.R612S; 7:83963229-83963229	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.G165S; 7:84060519-84060519	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1370C>T; p.T457I; 7:84002037-84002037	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.240C>T; p.F80F; 7:84134824-84134824	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.88C>G; p.P30A; 7:84194499-84194499	breast	carcinoma	Substitution - Missense
c.293C>A; p.T98N; 7:84129163-84129163	urinary_tract; bladder	carcinoma	Substitution - Missense
c.240C>T; p.F80F; 7:84134824-84134824	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.888A>G; p.P296P; 7:84011220-84011220	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.649G>T; p.D217Y; 7:84046342-84046342	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.649G>T; p.D217Y; 7:84046342-84046342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2027T>G; p.L676R; 7:83961660-83961660	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1211G>T; p.R404I; 7:84005488-84005488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1669G>C; p.D557H; 7:83977180-83977180	skin	malignant_melanoma	Substitution - Missense
c.391G>A; p.A131T; 7:84110532-84110532	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.391G>A; p.A131T; 7:84110532-84110532	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1760G>A; p.G587D; 7:83963305-83963305	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.391G>A; p.A131T; 7:84110532-84110532	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.391G>A; p.A131T; 7:84110532-84110532	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1288C>T; p.Q430*; 7:84005411-84005411	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.470T>C; p.L157P; 7:84060542-84060542	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1097G>C; p.W366S; 7:84007396-84007396	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.525G>A; p.L175L; 7:84060487-84060487	skin	malignant_melanoma	Substitution - coding silent
c.870T>C; p.R290R; 7:84011238-84011238	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2212G>A; p.G738R; 7:83961475-83961475	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1288C>G; p.Q430E; 7:84005411-84005411	breast	carcinoma	Substitution - Missense
c.1563G>C; p.G521G; 7:83981410-83981410	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1570T>G; p.C524G; 7:83981403-83981403	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.541T>C; p.L181L; 7:84060471-84060471	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1491G>C; p.K497N; 7:83985439-83985439	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1302T>C; p.I434I; 7:84005397-84005397	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2276G>A; p.R759K; 7:83961411-83961411	skin	malignant_melanoma	Substitution - Missense
c.241G>A; p.D81N; 7:84134823-84134823	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.241G>A; p.D81N; 7:84134823-84134823	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1825C>A; p.Q609K; 7:83963240-83963240	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.241G>A; p.D81N; 7:84134823-84134823	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.650A>T; p.D217V; 7:84046341-84046341	urinary_tract; bladder	carcinoma	Substitution - Missense
c.987G>A; p.T329T; 7:84011030-84011030	skin	malignant_melanoma	Substitution - coding silent
c.412C>T; p.H138Y; 7:84110511-84110511	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1401G>T; p.E467D; 7:84002006-84002006	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.525G>T; p.L175L; 7:84060487-84060487	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.518C>T; p.P173L; 7:84060494-84060494	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.330C>T; p.I110I; 7:84129126-84129126	skin	malignant_melanoma	Substitution - coding silent
c.397G>T; p.G133*; 7:84110526-84110526	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1131G>A; p.R377R; 7:84007362-84007362	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2219_2220CC>TT; p.T740I; 7:83961467-83961468	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1953G>A; p.A651A; 7:83961734-83961734	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.1953G>A; p.A651A; 7:83961734-83961734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.495C>A; p.G165G; 7:84060517-84060517	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.55A>T; p.R19*; 7:84194532-84194532	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2023G>T; p.E675*; 7:83961664-83961664	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.613C>T; p.L205F; 7:84046378-84046378	breast	carcinoma	Substitution - Missense
c.1399G>A; p.E467K; 7:84002008-84002008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1517C>A; p.T506K; 7:83981456-83981456	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2188C>T; p.R730*; 7:83961499-83961499	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Nonsense
c.2188C>T; p.R730*; 7:83961499-83961499	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.86T>C; p.V29A; 7:84194501-84194501	central_nervous_system; brain	glioma	Substitution - Missense
c.980T>G; p.V327G; 7:84011037-84011037	skin	malignant_melanoma	Substitution - Missense
c.1821T>C; p.Y607Y; 7:83963244-83963244	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.41T>C; p.V14A; 7:84194546-84194546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2244G>T; p.K748N; 7:83961443-83961443	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.611C>T; p.T204I; 7:84046380-84046380	oesophagus	carcinoma	Substitution - Missense
c.2267G>A; p.G756D; 7:83961420-83961420	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1112G>A; p.G371E; 7:84007381-84007381	skin	malignant_melanoma	Substitution - Missense
c.489A>G; p.E163E; 7:84060523-84060523	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.1537C>T; p.P513S; 7:83981436-83981436	skin	malignant_melanoma	Substitution - Missense
c.1686C>T; p.D562D; 7:83977163-83977163	liver	carcinoma	Substitution - coding silent
c.360A>T; p.V120V; 7:84110563-84110563	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.925C>G; p.Q309E; 7:84011183-84011183	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2087C>T; p.T696I; 7:83961600-83961600	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1526T>G; p.V509G; 7:83981447-83981447	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1526T>G; p.V509G; 7:83981447-83981447	breast	carcinoma	Substitution - Missense
c.7T>C; p.W3R; 7:84194580-84194580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2143C>A; p.L715I; 7:83961544-83961544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2121G>A; p.M707I; 7:83961566-83961566	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1748G>T; p.R583I; 7:83963317-83963317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.926A>T; p.Q309L; 7:84011091-84011091	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1812G>T; p.A604A; 7:83963253-83963253	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1360G>A; p.D454N; 7:84005339-84005339	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.503A>G; p.K168R; 7:84060509-84060509	liver	carcinoma	Substitution - Missense
c.1458G>T; p.P486P; 7:83985472-83985472	liver	carcinoma	Substitution - coding silent
c.1546C>T; p.R516W; 7:83981427-83981427	breast	carcinoma	Substitution - Missense
c.1458G>T; p.P486P; 7:83985472-83985472	liver	carcinoma	Substitution - coding silent
c.503A>G; p.K168R; 7:84060509-84060509	liver	carcinoma	Substitution - Missense
c.49A>G; p.T17A; 7:84194538-84194538	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation