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	2678
Symbol	GGT1
Synonymous	CD224\|D22S672\|D22S732\|GGT\|GGT 1\|GTG
Full name	gamma-glutamyltransferase 1
Gene description	gamma-glutamyltranspeptidase 1\|glutathione hydrolase 1\|leukotriene-C4 hydrolase
Cytoband	22q11.23
Gene type	protein-coding
Synonymous	MIM:612346; HGNC:HGNC:4250; Ensembl:ENSG00000100031; HPRD:01980; Vega:OTTHUMG00000030859

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.632C>T; p.P211L; 22:24620969-24620969	central_nervous_system; brain	glioma	Substitution - Missense
c.1051G>A; p.A351T; 22:24627462-24627462	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.550G>A; p.V184I; 22:24620495-24620495	skin; trunk	malignant_melanoma	Substitution - Missense
c.223G>T; p.V75L; 22:24614834-24614834	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.637C>G; p.L213V; 22:24620974-24620974	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1361G>T; p.C454F; 22:24628105-24628105	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1361G>T; p.C454F; 22:24628105-24628105	thyroid	other; neoplasm	Substitution - Missense
c.1361G>T; p.C454F; 22:24628105-24628105	thyroid	other; neoplasm	Substitution - Missense
c.1361G>T; p.C454F; 22:24628105-24628105	thyroid	other; neoplasm	Substitution - Missense
c.1361G>T; p.C454F; 22:24628105-24628105	thyroid	other; neoplasm	Substitution - Missense
c.1361G>T; p.C454F; 22:24628105-24628105	thyroid	other; neoplasm	Substitution - Missense
c.1361G>T; p.C454F; 22:24628105-24628105	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1361G>T; p.C454F; 22:24628105-24628105	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.463C>T; p.R155C; 22:24620408-24620408	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1081G>A; p.D361N; 22:24627492-24627492	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.301G>A; p.A101T; 22:24615046-24615046	skin	malignant_melanoma	Substitution - Missense
c.1081G>A; p.D361N; 22:24627492-24627492	thyroid	other; neoplasm	Substitution - Missense
c.1081G>A; p.D361N; 22:24627492-24627492	thyroid	other; neoplasm	Substitution - Missense
c.1081G>A; p.D361N; 22:24627492-24627492	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1080C>T; p.D360D; 22:24627491-24627491	stomach	adenocarcinoma	Substitution - coding silent
c.1283G>A; p.S428N; 22:24627926-24627926	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.65T>C; p.L22P; 22:24611146-24611146	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	breast	carcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	breast	carcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	breast	carcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1283G>A; p.S428N; 22:24627926-24627926	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1081G>C; p.D361H; 22:24627492-24627492	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1436C>T; p.T479M; 22:24628180-24628180	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.701C>T; p.T234M; 22:24621038-24621038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.701C>T; p.T234M; 22:24621038-24621038	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1367C>T; p.T456M; 22:24628111-24628111	skin	malignant_melanoma	Substitution - Missense
c.935C>T; p.T312M; 22:24623831-24623831	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.62G>A; p.G21D; 22:24611143-24611143	thyroid	other; neoplasm	Substitution - Missense
c.168T>C; p.D56D; 22:24614779-24614779	thyroid	other; neoplasm	Substitution - coding silent
c.168T>C; p.D56D; 22:24614779-24614779	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.154A>G; p.K52E; 22:24611235-24611235	pancreas	other; adenoma	Substitution - Missense
c.1008G>A; p.V336V; 22:24623904-24623904	skin	malignant_melanoma	Substitution - coding silent
c.847G>A; p.G283R; 22:24623220-24623220	skin	malignant_melanoma	Substitution - Missense
c.1159G>A; p.V387I; 22:24627570-24627570	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.350_351CC>TT; p.T117I; 22:24615095-24615096	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.961C>T; p.R321W; 22:24623857-24623857	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1098C>A; p.I366I; 22:24627509-24627509	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.169G>A; p.A57T; 22:24614780-24614780	thyroid	other; neoplasm	Substitution - Missense
c.1328T>C; p.I443T; 22:24627971-24627971	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.228G>A; p.G76G; 22:24614839-24614839	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.530C>T; p.A177V; 22:24620475-24620475	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.530C>T; p.A177V; 22:24620475-24620475	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.530C>T; p.A177V; 22:24620475-24620475	thyroid	other; neoplasm	Substitution - Missense
c.10A>T; p.K4*; 22:24611091-24611091	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1534G>A; p.V512I; 22:24628359-24628359	central_nervous_system; cerebellum	glioma; ependymoma	Substitution - Missense
c.180C>T; p.D60D; 22:24614791-24614791	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.180C>T; p.D60D; 22:24614791-24614791	thyroid	other; neoplasm	Substitution - coding silent
c.180C>T; p.D60D; 22:24614791-24614791	thyroid	other; neoplasm	Substitution - coding silent
c.180C>T; p.D60D; 22:24614791-24614791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.180C>T; p.D60D; 22:24614791-24614791	thyroid	other; neoplasm	Substitution - coding silent
c.180C>T; p.D60D; 22:24614791-24614791	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.180C>T; p.D60D; 22:24614791-24614791	thyroid	other; neoplasm	Substitution - coding silent
c.180C>T; p.D60D; 22:24614791-24614791	thyroid	other; neoplasm	Substitution - coding silent
c.1425A>G; p.T475T; 22:24628169-24628169	thyroid	other; neoplasm	Substitution - coding silent
c.1383G>T; p.Q461H; 22:24628127-24628127	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1425A>G; p.T475T; 22:24628169-24628169	thyroid	other; neoplasm	Substitution - coding silent
c.315C>T; p.N105N; 22:24615060-24615060	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1387G>A; p.G463S; 22:24628131-24628131	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1387G>A; p.G463S; 22:24628131-24628131	thyroid	other; neoplasm	Substitution - Missense
c.593A>G; p.D198G; 22:24620930-24620930	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.949G>A; p.V317I; 22:24623845-24623845	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.949G>A; p.V317I; 22:24623845-24623845	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1200C>G; p.I400M; 22:24627611-24627611	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.294A>T; p.T98T; 22:24614905-24614905	thyroid	other; neoplasm	Substitution - coding silent
c.1353G>A; p.S451S; 22:24628097-24628097	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1293C>T; p.N431N; 22:24627936-24627936	thyroid	other; neoplasm	Substitution - coding silent
c.1293C>T; p.N431N; 22:24627936-24627936	thyroid	other; neoplasm	Substitution - coding silent
c.1293C>T; p.N431N; 22:24627936-24627936	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.1293C>T; p.N431N; 22:24627936-24627936	thyroid	other; neoplasm	Substitution - coding silent
c.1293C>T; p.N431N; 22:24627936-24627936	liver	carcinoma	Substitution - coding silent
c.1293C>T; p.N431N; 22:24627936-24627936	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1010A>G; p.D337G; 22:24623906-24623906	central_nervous_system; brain	glioma	Substitution - Missense
c.365C>T; p.S122L; 22:24615110-24615110	skin	malignant_melanoma	Substitution - Missense
c.365C>T; p.S122L; 22:24615110-24615110	thyroid	other; neoplasm	Substitution - Missense
c.365C>T; p.S122L; 22:24615110-24615110	thyroid	other; neoplasm	Substitution - Missense
c.365C>T; p.S122L; 22:24615110-24615110	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1326C>T; p.F442F; 22:24627969-24627969	skin	malignant_melanoma	Substitution - coding silent
c.365C>T; p.S122L; 22:24615110-24615110	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.1366A>T; p.T456S; 22:24628110-24628110	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1504C>T; p.P502S; 22:24628329-24628329	thyroid	other; neoplasm	Substitution - Missense
c.1504C>T; p.P502S; 22:24628329-24628329	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1063C>T; p.R355W; 22:24627474-24627474	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1063C>T; p.R355W; 22:24627474-24627474	thyroid	other; neoplasm	Substitution - Missense
c.1063C>T; p.R355W; 22:24627474-24627474	thyroid	other; neoplasm	Substitution - Missense
c.948C>T; p.I316I; 22:24623844-24623844	skin	malignant_melanoma	Substitution - coding silent
c.769C>A; p.R257S; 22:24623142-24623142	skin	malignant_melanoma	Substitution - Missense
c.635A>G; p.Q212R; 22:24620972-24620972	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1114G>A; p.E372K; 22:24627525-24627525	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1114G>A; p.E372K; 22:24627525-24627525	thyroid	other; neoplasm	Substitution - Missense
c.1114G>A; p.E372K; 22:24627525-24627525	thyroid	other; neoplasm	Substitution - Missense
c.1114G>A; p.E372K; 22:24627525-24627525	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.607C>T; p.R203W; 22:24620944-24620944	breast	carcinoma	Substitution - Missense
c.607C>T; p.R203W; 22:24620944-24620944	breast	carcinoma	Substitution - Missense
c.607C>T; p.R203W; 22:24620944-24620944	thyroid	other; neoplasm	Substitution - Missense
c.940C>T; p.H314Y; 22:24623836-24623836	breast	carcinoma	Substitution - Missense
c.1368G>A; p.T456T; 22:24628112-24628112	skin	malignant_melanoma	Substitution - coding silent
c.761A>C; p.N254T; 22:24623134-24623134	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1021-5G>A; p.?; 22:24627427-24627427	breast	carcinoma	Unknown
c.190G>A; p.A64T; 22:24614801-24614801	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.384G>A; p.G128G; 22:24620329-24620329	thyroid	other; neoplasm	Substitution - coding silent
c.384G>A; p.G128G; 22:24620329-24620329	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.384G>A; p.G128G; 22:24620329-24620329	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.384G>A; p.G128G; 22:24620329-24620329	thyroid	other; neoplasm	Substitution - coding silent
c.1009G>A; p.D337N; 22:24623905-24623905	central_nervous_system; cerebellum	glioma; ependymoma	Substitution - Missense
c.384G>A; p.G128G; 22:24620329-24620329	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.575+2T>C; p.?; 22:24620522-24620522	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1135G>A; p.G379R; 22:24627546-24627546	thyroid	other; neoplasm	Substitution - Missense
c.83C>T; p.S28L; 22:24611164-24611164	breast	carcinoma	Substitution - Missense
c.1135G>A; p.G379R; 22:24627546-24627546	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1135G>A; p.G379R; 22:24627546-24627546	thyroid	other; neoplasm	Substitution - Missense
c.1135G>A; p.G379R; 22:24627546-24627546	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.733delG; p.G246fs*3; 22:24621070-24621070	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.733delG; p.G246fs*3; 22:24621070-24621070	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.200C>T; p.A67V; 22:24614811-24614811	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1139G>A; p.G380D; 22:24627550-24627550	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1437G>A; p.T479T; 22:24628181-24628181	thyroid	other; neoplasm	Substitution - coding silent
c.576-2A>G; p.?; 22:24620911-24620911	skin; trunk	malignant_melanoma	Unknown
c.1093C>A; p.P365T; 22:24627504-24627504	thyroid	other; neoplasm	Substitution - Missense
c.1093C>A; p.P365T; 22:24627504-24627504	thyroid	other; neoplasm	Substitution - Missense
c.1093C>A; p.P365T; 22:24627504-24627504	thyroid	other; neoplasm	Substitution - Missense
c.919G>A; p.E307K; 22:24623815-24623815	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6G>T; p.K2N; 22:24611087-24611087	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.592G>A; p.D198N; 22:24620929-24620929	skin	malignant_melanoma	Substitution - Missense
c.944G>A; p.R315H; 22:24623840-24623840	breast	carcinoma	Substitution - Missense
c.424G>T; p.E142*; 22:24620369-24620369	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1066G>T; p.A356S; 22:24627477-24627477	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1483G>A; p.V495M; 22:24628308-24628308	thyroid	other; neoplasm	Substitution - Missense
c.1483G>A; p.V495M; 22:24628308-24628308	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1483G>A; p.V495M; 22:24628308-24628308	thyroid	other; neoplasm	Substitution - Missense
c.1106A>G; p.Y369C; 22:24627517-24627517	central_nervous_system; brain	glioma	Substitution - Missense
c.1124C>T; p.T375M; 22:24627535-24627535	breast	carcinoma	Substitution - Missense
c.1041C>T; p.S347S; 22:24627452-24627452	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1041C>T; p.S347S; 22:24627452-24627452	breast	carcinoma	Substitution - coding silent
c.352A>G; p.M118V; 22:24615097-24615097	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.321C>A; p.R107R; 22:24615066-24615066	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1674G>A; p.S558S; 22:24628803-24628803	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1281C>A; p.P427P; 22:24627924-24627924	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1563+2T>C; p.?; 22:24628390-24628390	stomach	carcinoma; adenocarcinoma	Unknown
c.1305A>G; p.V435V; 22:24627948-24627948	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1305A>G; p.V435V; 22:24627948-24627948	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1305A>G; p.V435V; 22:24627948-24627948	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1305A>G; p.V435V; 22:24627948-24627948	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1259delA; p.M421fs*75; 22:24627902-24627902	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.942C>T; p.H314H; 22:24623838-24623838	skin	malignant_melanoma	Substitution - coding silent
c.1259delA; p.M421fs*75; 22:24627902-24627902	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1259delA; p.M421fs*75; 22:24627902-24627902	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1259delA; p.M421fs*75; 22:24627902-24627902	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1259delA; p.M421fs*75; 22:24627902-24627902	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1259delA; p.M421fs*75; 22:24627902-24627902	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1259delA; p.M421fs*75; 22:24627902-24627902	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.63C>T; p.G21G; 22:24611144-24611144	thyroid	other; neoplasm	Substitution - coding silent
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.63C>T; p.G21G; 22:24611144-24611144	thyroid	other; neoplasm	Substitution - coding silent
c.815T>C; p.V272A; 22:24623188-24623188	thyroid	other; neoplasm	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.815T>C; p.V272A; 22:24623188-24623188	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.350C>G; p.T117S; 22:24615095-24615095	skin; trunk	malignant_melanoma	Substitution - Missense
c.350C>G; p.T117S; 22:24615095-24615095	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.350C>G; p.T117S; 22:24615095-24615095	skin; trunk	malignant_melanoma	Substitution - Missense
c.350C>G; p.T117S; 22:24615095-24615095	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.350C>G; p.T117S; 22:24615095-24615095	skin; extremity	malignant_melanoma	Substitution - Missense
c.350C>G; p.T117S; 22:24615095-24615095	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.350C>G; p.T117S; 22:24615095-24615095	urinary_tract; bladder	carcinoma	Substitution - Missense
c.350C>G; p.T117S; 22:24615095-24615095	central_nervous_system; brain	glioma	Substitution - Missense
c.350C>G; p.T117S; 22:24615095-24615095	urinary_tract; bladder	carcinoma	Substitution - Missense
c.350C>G; p.T117S; 22:24615095-24615095	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.250G>A; p.G84S; 22:24614861-24614861	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.250G>A; p.G84S; 22:24614861-24614861	thyroid	other; neoplasm	Substitution - Missense
c.250G>A; p.G84S; 22:24614861-24614861	urinary_tract; bladder	carcinoma	Substitution - Missense
c.250G>A; p.G84S; 22:24614861-24614861	thyroid	other; neoplasm	Substitution - Missense
c.61G>A; p.G21S; 22:24611142-24611142	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.61G>A; p.G21S; 22:24611142-24611142	thyroid	other; neoplasm	Substitution - Missense
c.25G>A; p.G9S; 22:24611106-24611106	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1365G>A; p.P455P; 22:24628109-24628109	thyroid	other; neoplasm	Substitution - coding silent
c.24G>A; p.L8L; 22:24611105-24611105	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.899_900GG>AA; p.R300Q; 22:24623795-24623796	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1365G>A; p.P455P; 22:24628109-24628109	thyroid	other; neoplasm	Substitution - coding silent
c.1365G>A; p.P455P; 22:24628109-24628109	thyroid	other; neoplasm	Substitution - coding silent
c.1365G>A; p.P455P; 22:24628109-24628109	thyroid	other; neoplasm	Substitution - coding silent
c.1365G>A; p.P455P; 22:24628109-24628109	thyroid	other; neoplasm	Substitution - coding silent
c.1365G>A; p.P455P; 22:24628109-24628109	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.241C>G; p.H81D; 22:24614852-24614852	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.666C>T; p.I222I; 22:24621003-24621003	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.276C>T; p.T92T; 22:24614887-24614887	skin	malignant_melanoma	Substitution - coding silent
c.666C>T; p.I222I; 22:24621003-24621003	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1100C>T; p.S367F; 22:24627511-24627511	skin	malignant_melanoma	Substitution - Missense
c.1162G>A; p.A388T; 22:24627573-24627573	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.774T>C; p.A258A; 22:24623147-24623147	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1028G>A; p.R343H; 22:24627439-24627439	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.295+1G>A; p.?; 22:24614907-24614907	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1158C>T; p.V386V; 22:24627569-24627569	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1158C>T; p.V386V; 22:24627569-24627569	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.328G>A; p.A110T; 22:24615073-24615073	ovary	carcinoma; serous_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation