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	5793
Symbol	PTPRG
Synonymous	HPTPG\|PTPG\|R-PTP-GAMMA\|RPTPG
Full name	protein tyrosine phosphatase, receptor type, G
Gene description	H_RG317H01.1\|protein tyrosine phosphatase gamma\|protein tyrosine phosphatase, receptor type, gamma polypeptide\|protein-tyrosine phosphatase gamma\|receptor type protein tyrosine phosphatase gamma\|receptor tyrosine phosphatase gamma\|receptor-type protein ph
Cytoband	3p21-p14
Gene type	protein-coding
Synonymous	MIM:176886; HGNC:HGNC:9671; Ensembl:ENSG00000144724; HPRD:01478; Vega:OTTHUMG00000158660

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2351G>T; p.G784V; 3:62231287-62231287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2289-1G>C; p.?; 3:62231224-62231224	breast	carcinoma	Unknown
c.1814A>G; p.K605R; 3:62203609-62203609	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2684C>T; p.P895L; 3:62267437-62267437	skin	malignant_melanoma	Substitution - Missense
c.3010G>T; p.G1004C; 3:62271383-62271383	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1541C>T; p.T514M; 3:62203336-62203336	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4177G>A; p.V1393I; 3:62292542-62292542	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1541C>T; p.T514M; 3:62203336-62203336	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3556C>A; p.P1186T; 3:62275963-62275963	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.116A>G; p.H39R; 3:61748908-61748908	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3239T>G; p.I1080R; 3:62273002-62273002	kidney	other; neoplasm	Substitution - Missense
c.1314G>A; p.T438T; 3:62195157-62195157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3239T>G; p.I1080R; 3:62273002-62273002	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2332C>T; p.R778C; 3:62231268-62231268	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.751C>T; p.R251W; 3:62157135-62157135	skin	malignant_melanoma	Substitution - Missense
c.709G>A; p.V237I; 3:62157093-62157093	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.709G>A; p.V237I; 3:62157093-62157093	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.709G>A; p.V237I; 3:62157093-62157093	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2332C>T; p.R778C; 3:62231268-62231268	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.943A>G; p.R315G; 3:62168073-62168073	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2289-2A>G; p.?; 3:62231223-62231223	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.619A>T; p.S207C; 3:62132605-62132605	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.619A>T; p.S207C; 3:62132605-62132605	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2751A>G; p.K917K; 3:62267696-62267696	kidney	other; neoplasm	Substitution - coding silent
c.478G>T; p.G160C; 3:62003456-62003456	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.99C>T; p.G33G; 3:61748891-61748891	skin	malignant_melanoma	Substitution - coding silent
c.3976A>G; p.I1326V; 3:62282790-62282790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1223C>G; p.A408G; 3:62195066-62195066	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2569C>T; p.R857C; 3:62262807-62262807	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.654C>T; p.I218I; 3:62132640-62132640	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.433G>T; p.A145S; 3:62003411-62003411	urinary_tract; bladder	carcinoma	Substitution - Missense
c.278C>T; p.A93V; 3:61989712-61989712	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.677A>G; p.H226R; 3:62132663-62132663	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3229C>G; p.L1077V; 3:62272992-62272992	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2368G>A; p.G790R; 3:62231304-62231304	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.281G>C; p.R94P; 3:61989715-61989715	pleura	pulmonary_blastoma	Substitution - Missense
c.1218+10C>A; p.?; 3:62191663-62191663	liver	carcinoma	Unknown
c.2109C>T; p.R703R; 3:62203904-62203904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2109C>T; p.R703R; 3:62203904-62203904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2109C>T; p.R703R; 3:62203904-62203904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2109C>T; p.R703R; 3:62203904-62203904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2109C>T; p.R703R; 3:62203904-62203904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2109C>T; p.R703R; 3:62203904-62203904	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2109C>T; p.R703R; 3:62203904-62203904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2109C>T; p.R703R; 3:62203904-62203904	large_intestine; rectum	NS	Substitution - coding silent
c.2109C>T; p.R703R; 3:62203904-62203904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1832_1833insG; p.T612fs*20; 3:62203627-62203628	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2290G>A; p.G764R; 3:62231226-62231226	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1635C>G; p.S545R; 3:62203430-62203430	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2876G>A; p.R959Q; 3:62269036-62269036	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1574G>T; p.G525V; 3:62203369-62203369	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2519T>G; p.L840R; 3:62255175-62255175	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4096A>C; p.T1366P; 3:62292461-62292461	breast	carcinoma	Substitution - Missense
c.3424C>A; p.P1142T; 3:62273803-62273803	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2658T>C; p.Y886Y; 3:62267411-62267411	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1972G>A; p.G658R; 3:62203767-62203767	skin	malignant_melanoma	Substitution - Missense
c.1358G>T; p.R453I; 3:62201535-62201535	ovary	other; neoplasm	Substitution - Missense
c.1358G>T; p.R453I; 3:62201535-62201535	ovary	other; neoplasm	Substitution - Missense
c.1358G>T; p.R453I; 3:62201535-62201535	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2130C>T; p.D710D; 3:62203925-62203925	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.455G>T; p.W152L; 3:62003433-62003433	NS	malignant_melanoma	Substitution - Missense
c.3004delA; p.K1003fs*15; 3:62269164-62269164	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4066G>C; p.V1356L; 3:62292431-62292431	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2567A>G; p.Q856R; 3:62262805-62262805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1136T>C; p.M379T; 3:62191571-62191571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.127C>G; p.H43D; 3:61748919-61748919	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Missense
c.824C>A; p.P275H; 3:62157208-62157208	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2107C>T; p.R703C; 3:62203902-62203902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.127C>G; p.H43D; 3:61748919-61748919	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.877C>T; p.Q293*; 3:62168007-62168007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3181A>G; p.S1061G; 3:62271554-62271554	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1621G>T; p.A541S; 3:62203416-62203416	thyroid	other; neoplasm	Substitution - Missense
c.3490T>C; p.Y1164H; 3:62275897-62275897	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4160A>G; p.N1387S; 3:62292525-62292525	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3454A>T; p.K1152*; 3:62273833-62273833	skin	malignant_melanoma	Substitution - Nonsense
c.803T>G; p.I268R; 3:62157187-62157187	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3980G>A; p.S1327N; 3:62282794-62282794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4178T>C; p.V1393A; 3:62292543-62292543	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.470G>T; p.G157V; 3:62003448-62003448	liver	carcinoma	Substitution - Missense
c.273G>C; p.Q91H; 3:61989707-61989707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.470G>T; p.G157V; 3:62003448-62003448	liver	carcinoma	Substitution - Missense
c.3426A>G; p.P1142P; 3:62273805-62273805	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3623C>A; p.A1208D; 3:62277035-62277035	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2052G>A; p.Q684Q; 3:62203847-62203847	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.3307G>A; p.V1103I; 3:62273070-62273070	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.227T>C; p.V76A; 3:61989661-61989661	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2158_2159insA; p.N722fs*45; 3:62218853-62218854	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3074A>C; p.Q1025P; 3:62271447-62271447	pancreas	carcinoma	Substitution - Missense
c.1619C>T; p.T540M; 3:62203414-62203414	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2333G>A; p.R778H; 3:62231269-62231269	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.197A>G; p.Y66C; 3:61989631-61989631	prostate	carcinoma	Substitution - Missense
c.3886C>A; p.H1296N; 3:62281683-62281683	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2108G>A; p.R703H; 3:62203903-62203903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2325A>C; p.R775S; 3:62231261-62231261	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.336T>G; p.S112S; 3:61989770-61989770	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2184C>T; p.S728S; 3:62218879-62218879	skin	malignant_melanoma	Substitution - coding silent
c.29G>T; p.W10L; 3:61562316-61562316	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2171C>T; p.S724F; 3:62218866-62218866	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1137G>T; p.M379I; 3:62191572-62191572	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3859C>A; p.L1287I; 3:62281656-62281656	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1894_1895insG; p.T633fs*13; 3:62203689-62203690	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3619A>G; p.N1207D; 3:62277031-62277031	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.313G>T; p.D105Y; 3:61989747-61989747	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1177G>A; p.E393K; 3:62191612-62191612	skin	malignant_melanoma	Substitution - Missense
c.1774G>A; p.E592K; 3:62203569-62203569	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2791A>G; p.T931A; 3:62267736-62267736	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.75_85+11del22; p.?; 3:61562362-61562383	ovary	carcinoma; serous_carcinoma	Unknown
c.2906A>G; p.N969S; 3:62269066-62269066	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.2360G>A; p.G787E; 3:62231296-62231296	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2906A>G; p.N969S; 3:62269066-62269066	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Substitution - Missense
c.2112G>T; p.G704G; 3:62203907-62203907	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3364G>A; p.G1122R; 3:62273743-62273743	breast	carcinoma	Substitution - Missense
c.2241G>A; p.L747L; 3:62218936-62218936	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1968G>C; p.T656T; 3:62203763-62203763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.478G>A; p.G160S; 3:62003456-62003456	skin; extremity	malignant_melanoma	Substitution - Missense
c.2266A>C; p.I756L; 3:62218961-62218961	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.710T>C; p.V237A; 3:62157094-62157094	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1424C>T; p.S475L; 3:62203219-62203219	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.57C>T; p.S19S; 3:61562344-61562344	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1903G>A; p.E635K; 3:62203698-62203698	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1244C>T; p.P415L; 3:62195087-62195087	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2288_2288+1GG>AA; p.?; 3:62218983-62218984	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3641A>C; p.Y1214S; 3:62277555-62277555	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3641A>C; p.Y1214S; 3:62277555-62277555	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1649G>A; p.R550K; 3:62203444-62203444	pancreas	carcinoma	Substitution - Missense
c.1649G>A; p.R550K; 3:62203444-62203444	pancreas	carcinoma	Substitution - Missense
c.2282A>G; p.Y761C; 3:62218977-62218977	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3796C>T; p.R1266*; 3:62281593-62281593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.354A>C; p.K118N; 3:61989788-61989788	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2940G>A; p.L980L; 3:62269100-62269100	breast	carcinoma	Substitution - coding silent
c.2128G>C; p.D710H; 3:62203923-62203923	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3571C>T; p.R1191*; 3:62276983-62276983	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1109C>T; p.P370L; 3:62191544-62191544	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1109C>T; p.P370L; 3:62191544-62191544	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.716G>A; p.R239Q; 3:62157100-62157100	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.1109C>T; p.P370L; 3:62191544-62191544	large_intestine; colon	carcinoma	Substitution - Missense
c.1109C>T; p.P370L; 3:62191544-62191544	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2548G>T; p.E850*; 3:62255204-62255204	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.2675A>G; p.K892R; 3:62267428-62267428	skin	malignant_melanoma	Substitution - Missense
c.444G>A; p.V148V; 3:62003422-62003422	skin	malignant_melanoma	Substitution - coding silent
c.2376-1_2376insA; p.C794fs*20; 3:62243806-62243807	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.2110G>A; p.G704R; 3:62203905-62203905	skin	malignant_melanoma	Substitution - Missense
c.3513G>A; p.Q1171Q; 3:62275920-62275920	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2290G>C; p.G764R; 3:62231226-62231226	pancreas	carcinoma	Substitution - Missense
c.1621G>C; p.A541P; 3:62203416-62203416	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1269C>T; p.V423V; 3:62195112-62195112	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2290G>C; p.G764R; 3:62231226-62231226	pancreas	carcinoma	Substitution - Missense
c.1578C>G; p.I526M; 3:62203373-62203373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1269C>T; p.V423V; 3:62195112-62195112	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.1245C>T; p.P415P; 3:62195088-62195088	skin	malignant_melanoma	Substitution - coding silent
c.1245C>T; p.P415P; 3:62195088-62195088	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2288+1G>A; p.?; 3:62218984-62218984	skin	malignant_melanoma	Unknown
c.2425C>T; p.R809*; 3:62243856-62243856	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1563C>T; p.F521F; 3:62203358-62203358	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.714C>T; p.L238L; 3:62157098-62157098	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2570G>C; p.R857P; 3:62262808-62262808	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.115C>A; p.H39N; 3:61748907-61748907	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1495T>C; p.S499P; 3:62203290-62203290	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.378C>G; p.I126M; 3:62003356-62003356	skin	malignant_melanoma	Substitution - Missense
c.391G>A; p.D131N; 3:62003369-62003369	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.390C>T; p.D130D; 3:62003368-62003368	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1671G>T; p.E557D; 3:62203466-62203466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.654C>G; p.I218M; 3:62132640-62132640	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.117C>T; p.H39H; 3:61748909-61748909	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1883C>T; p.S628L; 3:62203678-62203678	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.591C>T; p.I197I; 3:62078234-62078234	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.117C>T; p.H39H; 3:61748909-61748909	skin	malignant_melanoma	Substitution - coding silent
c.1792G>C; p.D598H; 3:62203587-62203587	liver	carcinoma	Substitution - Missense
c.115C>T; p.H39Y; 3:61748907-61748907	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1404C>A; p.A468A; 3:62203199-62203199	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1792G>C; p.D598H; 3:62203587-62203587	liver	carcinoma	Substitution - Missense
c.254C>A; p.P85H; 3:61989688-61989688	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1386G>A; p.A462A; 3:62203181-62203181	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3123C>T; p.F1041F; 3:62271496-62271496	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2107C>A; p.R703S; 3:62203902-62203902	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2107C>A; p.R703S; 3:62203902-62203902	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.568G>A; p.A190T; 3:62078211-62078211	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2559+2T>C; p.?; 3:62255217-62255217	breast	carcinoma	Unknown
c.1219-4A>G; p.?; 3:62195058-62195058	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Unknown
c.2293T>C; p.C765R; 3:62231229-62231229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.659G>T; p.G220V; 3:62132645-62132645	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2566C>T; p.Q856*; 3:62262804-62262804	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2515G>A; p.E839K; 3:62255171-62255171	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2515G>A; p.E839K; 3:62255171-62255171	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2206G>T; p.E736*; 3:62218901-62218901	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Nonsense
c.257T>C; p.I86T; 3:61989691-61989691	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2376_2377insA; p.C794fs*20; 3:62243807-62243808	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1703C>T; p.S568L; 3:62203498-62203498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3645_3646insT; p.R1216fs*1; 3:62277559-62277560	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.2247C>T; p.F749F; 3:62218942-62218942	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2247C>T; p.F749F; 3:62218942-62218942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2625G>A; p.K875K; 3:62262863-62262863	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.280C>T; p.R94C; 3:61989714-61989714	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.280C>T; p.R94C; 3:61989714-61989714	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.118G>A; p.E40K; 3:61748910-61748910	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.118G>A; p.E40K; 3:61748910-61748910	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4269A>G; p.V1423V; 3:62293238-62293238	skin	malignant_melanoma	Substitution - coding silent
c.1385C>T; p.A462V; 3:62203180-62203180	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1485G>A; p.G495G; 3:62203280-62203280	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1797A>G; p.G599G; 3:62203592-62203592	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2697A>T; p.K899N; 3:62267450-62267450	ovary	other; neoplasm	Substitution - Missense
c.2060G>A; p.G687E; 3:62203855-62203855	skin	malignant_melanoma	Substitution - Missense
c.755A>G; p.Y252C; 3:62157139-62157139	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2720T>G; p.I907S; 3:62267473-62267473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3015G>A; p.Q1005Q; 3:62271388-62271388	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2364G>C; p.E788D; 3:62231300-62231300	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1208A>G; p.D403G; 3:62191643-62191643	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.422G>T; p.G141V; 3:62003400-62003400	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3034C>T; p.R1012C; 3:62271407-62271407	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2156-1G>A; p.?; 3:62218850-62218850	prostate	carcinoma	Unknown
c.274T>C; p.Y92H; 3:61989708-61989708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2811G>T; p.R937S; 3:62267756-62267756	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3849C>T; p.D1283D; 3:62281646-62281646	breast	carcinoma	Substitution - coding silent
c.3842G>A; p.S1281N; 3:62281639-62281639	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1661C>T; p.A554V; 3:62203456-62203456	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3129G>A; p.R1043R; 3:62271502-62271502	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.932G>A; p.R311H; 3:62168062-62168062	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.953C>T; p.S318F; 3:62168083-62168083	skin	malignant_melanoma	Substitution - Missense
c.998T>G; p.F333C; 3:62168128-62168128	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3146G>A; p.R1049Q; 3:62271519-62271519	skin	malignant_melanoma	Substitution - Missense
c.3197G>C; p.R1066T; 3:62272960-62272960	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.882_883CC>TT; p.H295Y; 3:62168012-62168013	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1284G>C; p.R428R; 3:62195127-62195127	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1357A>T; p.R453*; 3:62201534-62201534	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4055+2T>C; p.?; 3:62282871-62282871	ovary	carcinoma; serous_carcinoma	Unknown
c.212delG; p.V72fs*18; 3:61989646-61989646	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.253C>G; p.P85A; 3:61989687-61989687	breast	carcinoma	Substitution - Missense
c.3638G>A; p.G1213D; 3:62277552-62277552	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.347_348GG>AT; p.W116Y; 3:61989781-61989782	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3296G>A; p.R1099H; 3:62273059-62273059	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3296G>A; p.R1099H; 3:62273059-62273059	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.231C>G; p.S77R; 3:61989665-61989665	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.592G>A; p.G198R; 3:62078235-62078235	skin	malignant_melanoma	Substitution - Missense
c.3088G>T; p.G1030*; 3:62271461-62271461	large_intestine; colon	NS	Substitution - Nonsense
c.4003G>A; p.V1335I; 3:62282817-62282817	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.753G>A; p.R251R; 3:62157137-62157137	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.2241G>C; p.L747F; 3:62218936-62218936	breast	carcinoma	Substitution - Missense
c.131G>A; p.G44D; 3:61748923-61748923	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1990C>T; p.P664S; 3:62203785-62203785	skin	malignant_melanoma	Substitution - Missense
c.711C>T; p.V237V; 3:62157095-62157095	skin	malignant_melanoma	Substitution - coding silent
c.2640C>G; p.Y880*; 3:62262878-62262878	central_nervous_system; brain	glioma	Substitution - Nonsense
c.2459C>A; p.P820H; 3:62243890-62243890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.379C>T; p.L127F; 3:62003357-62003357	skin	malignant_melanoma	Substitution - Missense
c.1709C>T; p.P570L; 3:62203504-62203504	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.623C>T; p.P208L; 3:62132609-62132609	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.154C>A; p.R52S; 3:61748946-61748946	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2974C>T; p.R992C; 3:62269134-62269134	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2974C>T; p.R992C; 3:62269134-62269134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2974C>T; p.R992C; 3:62269134-62269134	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2974C>T; p.R992C; 3:62269134-62269134	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2566C>A; p.Q856K; 3:62262804-62262804	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.280C>G; p.R94G; 3:61989714-61989714	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3646A>G; p.R1216G; 3:62277560-62277560	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2803T>G; p.F935V; 3:62267748-62267748	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3035G>A; p.R1012H; 3:62271408-62271408	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.819C>T; p.P273P; 3:62157203-62157203	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3434G>T; p.G1145V; 3:62273813-62273813	pancreas	carcinoma	Substitution - Missense
c.219G>A; p.T73T; 3:61989653-61989653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2969C>A; p.T990N; 3:62269129-62269129	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.4295C>T; p.A1432V; 3:62293264-62293264	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2433C>T; p.V811V; 3:62243864-62243864	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2440G>T; p.E814*; 3:62243871-62243871	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3692C>T; p.T1231M; 3:62277606-62277606	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.183C>A; p.A61A; 3:61748975-61748975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.804A>G; p.I268M; 3:62157188-62157188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3868G>A; p.E1290K; 3:62281665-62281665	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3868G>A; p.E1290K; 3:62281665-62281665	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.279G>A; p.A93A; 3:61989713-61989713	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.820G>A; p.V274I; 3:62157204-62157204	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.279G>A; p.A93A; 3:61989713-61989713	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.820G>A; p.V274I; 3:62157204-62157204	pancreas	carcinoma	Substitution - Missense
c.709G>T; p.V237F; 3:62157093-62157093	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2973T>C; p.V991V; 3:62269133-62269133	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2853G>A; p.T951T; 3:62267798-62267798	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3003G>C; p.V1001V; 3:62269163-62269163	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1283G>A; p.R428Q; 3:62195126-62195126	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2975G>A; p.R992H; 3:62269135-62269135	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2975G>A; p.R992H; 3:62269135-62269135	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1979G>T; p.R660M; 3:62203774-62203774	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2003C>A; p.P668H; 3:62203798-62203798	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.2488G>T; p.V830F; 3:62255144-62255144	liver	carcinoma	Substitution - Missense
c.2488G>T; p.V830F; 3:62255144-62255144	liver	carcinoma	Substitution - Missense
c.4288C>T; p.L1430F; 3:62293257-62293257	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.787G>A; p.E263K; 3:62157171-62157171	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3078G>A; p.W1026*; 3:62271451-62271451	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.659G>A; p.G220E; 3:62132645-62132645	skin; trunk	malignant_melanoma	Substitution - Missense
c.3109C>T; p.P1037S; 3:62271482-62271482	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1552G>A; p.G518S; 3:62203347-62203347	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.136G>A; p.A46T; 3:61748928-61748928	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3147G>A; p.R1049R; 3:62271520-62271520	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.289G>A; p.E97K; 3:61989723-61989723	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1720G>A; p.G574S; 3:62203515-62203515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1174G>T; p.D392Y; 3:62191609-62191609	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.4120G>A; p.E1374K; 3:62292485-62292485	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1720G>A; p.G574S; 3:62203515-62203515	thyroid	other; neoplasm	Substitution - Missense
c.391G>C; p.D131H; 3:62003369-62003369	breast	carcinoma	Substitution - Missense
c.228C>A; p.V76V; 3:61989662-61989662	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.4002C>T; p.N1334N; 3:62282816-62282816	liver	carcinoma	Substitution - coding silent
c.673G>A; p.V225I; 3:62132659-62132659	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3025C>T; p.P1009S; 3:62271398-62271398	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3137C>T; p.S1046L; 3:62271510-62271510	breast	carcinoma	Substitution - Missense
c.3262G>A; p.V1088I; 3:62273025-62273025	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3943C>G; p.Q1315E; 3:62282757-62282757	breast	carcinoma	Substitution - Missense
c.4171C>T; p.P1391S; 3:62292536-62292536	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3802G>A; p.E1268K; 3:62281599-62281599	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4092T>A; p.L1364L; 3:62292457-62292457	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation