Entrez Gene

Basic Information
Gene ID	2262
Name	GPC5
Synonymous	glypican 5;GPC5;glypican 5
Definition	bA93M14.1\|glypican proteoglycan 5\|glypican-5
Position	13q32
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.11.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1341A>T; p.K447N; 13:91907997-91907997	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1606C>A; p.Q536K; 13:92866326-92866326	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1145A>G; p.N382S; 13:91728656-91728656	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1606C>A; p.Q536K; 13:92866326-92866326	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.773G>T; p.C258F; 13:91693634-91693634	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.836G>T; p.R279L; 13:91693697-91693697	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.646G>C; p.G216R; 13:91693507-91693507	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1256G>A; p.W419*; 13:91756396-91756396	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1404G>T; p.L468F; 13:92144832-92144832	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1256G>A; p.W419*; 13:91756396-91756396	skin	malignant_melanoma	Substitution - Nonsense
c.1272A>G; p.I424M; 13:91756412-91756412	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.424C>A; p.Q142K; 13:91693285-91693285	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1520C>T; p.S507L; 13:92144948-92144948	skin	malignant_melanoma	Substitution - Missense
c.99T>C; p.V33V; 13:91399145-91399145	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1170delC; p.L391fs*11; 13:91756310-91756310	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.812T>A; p.M271K; 13:91693673-91693673	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.245G>C; p.R82P; 13:91448842-91448842	breast	carcinoma	Substitution - Missense
c.1159T>C; p.F387L; 13:91756299-91756299	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1159T>C; p.F387L; 13:91756299-91756299	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1159T>C; p.F387L; 13:91756299-91756299	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.935T>C; p.I312T; 13:91693796-91693796	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.724C>T; p.L242L; 13:91693585-91693585	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1197A>C; p.G399G; 13:91756337-91756337	breast	carcinoma	Substitution - coding silent
c.1708G>A; p.G570R; 13:92866428-92866428	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1708G>A; p.G570R; 13:92866428-92866428	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1118C>A; p.T373K; 13:91728629-91728629	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.910G>A; p.D304N; 13:91693771-91693771	skin	malignant_melanoma	Substitution - Missense
c.279C>A; p.S93R; 13:91448876-91448876	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1314A>C; p.K438N; 13:91907970-91907970	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.596G>A; p.R199Q; 13:91693457-91693457	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1710G>A; p.G570G; 13:92866430-92866430	skin	malignant_melanoma	Substitution - coding silent
c.629G>A; p.R210K; 13:91693490-91693490	skin	malignant_melanoma	Substitution - Missense
c.560C>T; p.S187F; 13:91693421-91693421	skin	malignant_melanoma	Substitution - Missense
c.560C>T; p.S187F; 13:91693421-91693421	skin	malignant_melanoma	Substitution - Missense
c.1601T>G; p.I534S; 13:92866321-92866321	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.553G>C; p.D185H; 13:91693414-91693414	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.638G>A; p.G213E; 13:91693499-91693499	skin	malignant_melanoma	Substitution - Missense
c.1563G>A; p.W521*; 13:92866283-92866283	skin	malignant_melanoma	Substitution - Nonsense
c.1563G>A; p.W521*; 13:92866283-92866283	skin	malignant_melanoma	Substitution - Nonsense
c.1563G>A; p.W521*; 13:92866283-92866283	skin	malignant_melanoma	Substitution - Nonsense
c.691C>T; p.L231L; 13:91693552-91693552	skin	malignant_melanoma	Substitution - coding silent
c.795G>A; p.A265A; 13:91693656-91693656	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.249G>T; p.Q83H; 13:91448846-91448846	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1707C>T; p.P569P; 13:92866427-92866427	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1064G>T; p.S355I; 13:91728575-91728575	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.708C>G; p.I236M; 13:91693569-91693569	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1029G>A; p.R343R; 13:91728540-91728540	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.674T>C; p.F225S; 13:91693535-91693535	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.514C>T; p.P172S; 13:91693375-91693375	skin	malignant_melanoma	Substitution - Missense
c.923G>C; p.G308A; 13:91693784-91693784	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.514C>T; p.P172S; 13:91693375-91693375	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.514C>T; p.P172S; 13:91693375-91693375	skin	malignant_melanoma	Substitution - Missense
c.1517G>T; p.G506V; 13:92144945-92144945	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.629G>T; p.R210I; 13:91693490-91693490	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1021-1G>C; p.?; 13:91728531-91728531	lung	carcinoma; adenocarcinoma	Unknown
c.959A>T; p.H320L; 13:91693820-91693820	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.164G>A; p.G55E; 13:91448761-91448761	skin	malignant_melanoma	Substitution - Missense
c.164G>A; p.G55E; 13:91448761-91448761	NS	malignant_melanoma	Substitution - Missense
c.164G>A; p.G55E; 13:91448761-91448761	NS	malignant_melanoma	Substitution - Missense
c.1399C>T; p.Q467*; 13:91908055-91908055	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.959A>T; p.H320L; 13:91693820-91693820	urinary_tract; bladder	carcinoma	Substitution - Missense
c.729C>A; p.H243Q; 13:91693590-91693590	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1060C>G; p.Q354E; 13:91728571-91728571	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1688G>T; p.S563I; 13:92866408-92866408	breast	carcinoma	Substitution - Missense
c.604A>G; p.S202G; 13:91693465-91693465	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.432C>A; p.F144L; 13:91693293-91693293	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.432C>A; p.F144L; 13:91693293-91693293	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.432C>A; p.F144L; 13:91693293-91693293	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1644A>T; p.A548A; 13:92866364-92866364	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.689A>G; p.N230S; 13:91693550-91693550	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1040G>T; p.R347L; 13:91728551-91728551	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1040G>T; p.R347L; 13:91728551-91728551	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.649A>T; p.R217W; 13:91693510-91693510	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.649A>T; p.R217W; 13:91693510-91693510	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1091A>G; p.K364R; 13:91728602-91728602	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.439G>A; p.D147N; 13:91693300-91693300	skin	malignant_melanoma	Substitution - Missense
c.843C>A; p.C281*; 13:91693704-91693704	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1533A>C; p.E511D; 13:92144961-92144961	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.588G>A; p.M196I; 13:91693449-91693449	skin	malignant_melanoma	Substitution - Missense
c.908C>T; p.S303L; 13:91693769-91693769	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.588G>A; p.M196I; 13:91693449-91693449	skin	malignant_melanoma	Substitution - Missense
c.483A>T; p.E161D; 13:91693344-91693344	skin	malignant_melanoma	Substitution - Missense
c.1277A>G; p.K426R; 13:91756417-91756417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.776C>T; p.P259L; 13:91693637-91693637	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1394T>C; p.V465A; 13:91908050-91908050	skin	malignant_melanoma	Substitution - Missense
c.1244G>A; p.G415E; 13:91756384-91756384	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>T; p.R198C; 13:91693453-91693453	skin	malignant_melanoma	Substitution - Missense
c.1262G>A; p.G421E; 13:91756402-91756402	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1151G>A; p.R384K; 13:91728662-91728662	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1368T>A; p.N456K; 13:91908024-91908024	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.188C>T; p.S63F; 13:91448785-91448785	NS	malignant_melanoma	Substitution - Missense
c.1182C>G; p.Y394*; 13:91756322-91756322	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.188C>T; p.S63F; 13:91448785-91448785	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1137G>A; p.T379T; 13:91728648-91728648	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.540C>A; p.N180K; 13:91693401-91693401	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.305G>A; p.R102Q; 13:91448902-91448902	skin	malignant_melanoma	Substitution - Missense
c.305G>A; p.R102Q; 13:91448902-91448902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.540C>A; p.N180K; 13:91693401-91693401	large_intestine; colon	carcinoma	Substitution - Missense
c.305G>A; p.R102Q; 13:91448902-91448902	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.825C>G; p.L275L; 13:91693686-91693686	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.64G>A; p.A22T; 13:91399110-91399110	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1378G>A; p.D460N; 13:91908034-91908034	skin	malignant_melanoma	Substitution - Missense
c.594C>T; p.R198R; 13:91693455-91693455	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.488T>C; p.V163A; 13:91693349-91693349	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.488T>C; p.V163A; 13:91693349-91693349	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.485T>A; p.F162Y; 13:91693346-91693346	pancreas	carcinoma	Substitution - Missense
c.1342delG; p.V448fs*7; 13:91907998-91907998	prostate	carcinoma	Deletion - Frameshift
c.1357C>T; p.P453S; 13:91908013-91908013	skin	malignant_melanoma	Substitution - Missense
c.1297G>A; p.V433I; 13:91907953-91907953	skin	malignant_melanoma	Substitution - Missense
c.593G>A; p.R198H; 13:91693454-91693454	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1588G>A; p.D530N; 13:92866308-92866308	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.227G>A; p.R76K; 13:91448824-91448824	skin	malignant_melanoma	Substitution - Missense
c.700G>T; p.E234*; 13:91693561-91693561	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1156G>T; p.E386*; 13:91756296-91756296	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.436A>C; p.T146P; 13:91693297-91693297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.249G>C; p.Q83H; 13:91448846-91448846	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.852C>A; p.H284Q; 13:91693713-91693713	breast	carcinoma	Substitution - Missense
c.849G>A; p.A283A; 13:91693710-91693710	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.849G>A; p.A283A; 13:91693710-91693710	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.506G>A; p.S169N; 13:91693367-91693367	breast	carcinoma	Substitution - Missense
c.951G>A; p.L317L; 13:91693812-91693812	skin	malignant_melanoma	Substitution - coding silent
c.951G>A; p.L317L; 13:91693812-91693812	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.924A>G; p.G308G; 13:91693785-91693785	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1205C>A; p.A402D; 13:91756345-91756345	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1094A>G; p.E365G; 13:91728605-91728605	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.637G>A; p.G213R; 13:91693498-91693498	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1094A>G; p.E365G; 13:91728605-91728605	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.312G>A; p.A104A; 13:91448909-91448909	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.492C>A; p.N164K; 13:91693353-91693353	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.584G>T; p.R195L; 13:91693445-91693445	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1084C>T; p.Q362*; 13:91728595-91728595	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.82C>T; p.Q28*; 13:91399128-91399128	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1667C>A; p.S556Y; 13:92866387-92866387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1709G>T; p.G570V; 13:92866429-92866429	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1474G>A; p.E492K; 13:92144902-92144902	urinary_tract; bladder	carcinoma	Substitution - Missense
c.598G>A; p.D200N; 13:91693459-91693459	skin; upper_back	malignant_melanoma	Substitution - Missense
c.1257G>T; p.W419C; 13:91756397-91756397	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1577T>C; p.M526T; 13:92866297-92866297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1681C>T; p.L561L; 13:92866401-92866401	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.823C>T; p.L275F; 13:91693684-91693684	skin	malignant_melanoma	Substitution - Missense
c.887T>C; p.I296T; 13:91693748-91693748	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.706A>G; p.I236V; 13:91693567-91693567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244C>A; p.R82S; 13:91448841-91448841	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.495_496insT; p.D168fs*1; 13:91693356-91693357	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.495_496insT; p.D168fs*1; 13:91693356-91693357	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.40C>T; p.L14F; 13:91399086-91399086	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1501G>A; p.E501K; 13:92144929-92144929	skin	malignant_melanoma	Substitution - Missense
c.325+3A>C; p.?; 13:91448925-91448925	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1059A>G; p.T353T; 13:91728570-91728570	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1393G>C; p.V465L; 13:91908049-91908049	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1250C>T; p.P417L; 13:91756390-91756390	skin	malignant_melanoma	Substitution - Missense
c.250G>C; p.D84H; 13:91448847-91448847	breast	carcinoma; HER-positive_carcinoma	Substitution - Missense
c.653C>T; p.S218F; 13:91693514-91693514	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.844C>T; p.L282L; 13:91693705-91693705	prostate	carcinoma	Substitution - coding silent
c.1338C>T; p.V446V; 13:91907994-91907994	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.972T>C; p.N324N; 13:91693833-91693833	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.730T>G; p.F244V; 13:91693591-91693591	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>T; p.A80V; 13:91448836-91448836	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.972T>C; p.N324N; 13:91693833-91693833	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.730T>G; p.F244V; 13:91693591-91693591	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.419C>T; p.S140L; 13:91693280-91693280	skin	malignant_melanoma	Substitution - Missense
c.1705C>T; p.P569S; 13:92866425-92866425	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.419C>T; p.S140L; 13:91693280-91693280	skin	malignant_melanoma	Substitution - Missense
c.776C>A; p.P259Q; 13:91693637-91693637	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.419C>T; p.S140L; 13:91693280-91693280	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1659G>A; p.A553A; 13:92866379-92866379	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1360G>T; p.V454L; 13:91908016-91908016	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4G>T; p.D2Y; 13:91399050-91399050	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.490A>G; p.N164D; 13:91693351-91693351	skin	malignant_melanoma	Substitution - Missense
c.920A>C; p.H307P; 13:91693781-91693781	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.829G>A; p.V277I; 13:91693690-91693690	breast	carcinoma	Substitution - Missense
c.720C>T; p.D240D; 13:91693581-91693581	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1008A>C; p.K336N; 13:91693869-91693869	skin	malignant_melanoma	Substitution - Missense
c.1008A>G; p.K336K; 13:91693869-91693869	liver	carcinoma	Substitution - coding silent
c.1008A>G; p.K336K; 13:91693869-91693869	liver	carcinoma	Substitution - coding silent
c.1089C>G; p.S363R; 13:91728600-91728600	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1050A>T; p.R350S; 13:91728561-91728561	liver	carcinoma	Substitution - Missense
c.1221T>C; p.A407A; 13:91756361-91756361	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1050A>T; p.R350S; 13:91728561-91728561	liver	carcinoma	Substitution - Missense
c.901G>T; p.E301*; 13:91693762-91693762	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.37C>A; p.L13I; 13:91399083-91399083	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1225G>A; p.E409K; 13:91756365-91756365	skin	malignant_melanoma	Substitution - Missense
c.91G>A; p.E31K; 13:91399137-91399137	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.91G>A; p.E31K; 13:91399137-91399137	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1504G>A; p.D502N; 13:92144932-92144932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.464C>T; p.A155V; 13:91693325-91693325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.464C>T; p.A155V; 13:91693325-91693325	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.156G>A; p.P52P; 13:91399202-91399202	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.660G>A; p.L220L; 13:91693521-91693521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.311C>T; p.A104V; 13:91448908-91448908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.950T>C; p.L317P; 13:91693811-91693811	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.950T>C; p.L317P; 13:91693811-91693811	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.950T>C; p.L317P; 13:91693811-91693811	large_intestine; colon	carcinoma	Substitution - Missense
c.950T>C; p.L317P; 13:91693811-91693811	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.734C>T; p.S245F; 13:91693595-91693595	skin	malignant_melanoma	Substitution - Missense
c.1136C>T; p.T379M; 13:91728647-91728647	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1576A>T; p.M526L; 13:92866296-92866296	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1576A>T; p.M526L; 13:92866296-92866296	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1438G>A; p.E480K; 13:92144866-92144866	skin	malignant_melanoma	Substitution - Missense
c.544G>A; p.G182S; 13:91693405-91693405	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.419C>G; p.S140W; 13:91693280-91693280	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1103G>T; p.G368V; 13:91728614-91728614	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.544G>A; p.G182S; 13:91693405-91693405	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1438G>A; p.E480K; 13:92144866-92144866	skin	malignant_melanoma	Substitution - Missense
c.994C>A; p.L332I; 13:91693855-91693855	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.515C>G; p.P172R; 13:91693376-91693376	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.515C>G; p.P172R; 13:91693376-91693376	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.667C>T; p.R223C; 13:91693528-91693528	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1578G>C; p.M526I; 13:92866298-92866298	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.157C>T; p.R53W; 13:91399203-91399203	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.555C>T; p.D185D; 13:91693416-91693416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.803A>C; p.K268T; 13:91693664-91693664	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.393G>A; p.R131R; 13:91693254-91693254	skin	malignant_melanoma	Substitution - coding silent
c.574G>A; p.E192K; 13:91693435-91693435	urinary_tract; bladder	carcinoma	Substitution - Missense
c.527A>C; p.N176T; 13:91693388-91693388	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.393G>A; p.R131R; 13:91693254-91693254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1336G>A; p.V446I; 13:91907992-91907992	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1462G>A; p.G488R; 13:92144890-92144890	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1311C>A; p.I437I; 13:91907967-91907967	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1288C>T; p.Q430*; 13:91907944-91907944	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.740A>G; p.E247G; 13:91693601-91693601	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1317C>A; p.A439A; 13:91907973-91907973	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.615T>C; p.G205G; 13:91693476-91693476	stomach	adenocarcinoma	Substitution - coding silent
c.858G>A; p.A286A; 13:91693719-91693719	breast	carcinoma	Substitution - coding silent
c.222G>T; p.E74D; 13:91448819-91448819	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1584C>A; p.F528L; 13:92866304-92866304	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1040G>A; p.R347H; 13:91728551-91728551	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1040G>A; p.R347H; 13:91728551-91728551	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.668G>A; p.R223H; 13:91693529-91693529	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.272C>T; p.T91M; 13:91448869-91448869	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1067C>A; p.P356H; 13:91728578-91728578	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.173T>A; p.L58H; 13:91448770-91448770	pancreas	carcinoma	Substitution - Missense
c.1046T>A; p.V349E; 13:91728557-91728557	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1070G>A; p.R357H; 13:91728581-91728581	pancreas	carcinoma	Substitution - Missense
c.1070G>A; p.R357H; 13:91728581-91728581	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1151G>T; p.R384I; 13:91728662-91728662	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.401C>T; p.A134V; 13:91693262-91693262	thyroid	carcinoma	Substitution - Missense
c.563T>C; p.L188P; 13:91693424-91693424	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.465G>A; p.A155A; 13:91693326-91693326	breast	carcinoma	Substitution - coding silent
c.1702C>T; p.L568F; 13:92866422-92866422	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1249C>T; p.P417S; 13:91756389-91756389	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1311C>G; p.I437M; 13:91907967-91907967	parathyroid	carcinoma	Substitution - Missense
c.1000G>T; p.G334*; 13:91693861-91693861	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.212G>A; p.R71K; 13:91448809-91448809	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1081G>C; p.D361H; 13:91728592-91728592	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.835C>T; p.R279*; 13:91693696-91693696	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.993C>G; p.H331Q; 13:91693854-91693854	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.481G>T; p.E161*; 13:91693342-91693342	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.603G>T; p.V201V; 13:91693464-91693464	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1512C>A; p.C504*; 13:92144940-92144940	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1573G>A; p.D525N; 13:92866293-92866293	skin	malignant_melanoma	Substitution - Missense
c.1573G>A; p.D525N; 13:92866293-92866293	skin	malignant_melanoma	Substitution - Missense
c.1573G>A; p.D525N; 13:92866293-92866293	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.794C>T; p.A265V; 13:91693655-91693655	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.794C>T; p.A265V; 13:91693655-91693655	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1069C>T; p.R357C; 13:91728580-91728580	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.220G>A; p.E74K; 13:91448817-91448817	skin	malignant_melanoma	Substitution - Missense
c.1517G>A; p.G506E; 13:92144945-92144945	skin	malignant_melanoma	Substitution - Missense
c.1325G>A; p.G442E; 13:91907981-91907981	skin; neck	malignant_melanoma	Substitution - Missense
c.540C>T; p.N180N; 13:91693401-91693401	skin	malignant_melanoma	Substitution - coding silent
c.498T>C; p.F166F; 13:91693359-91693359	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1403T>A; p.L468*; 13:92144831-92144831	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.487G>T; p.V163L; 13:91693348-91693348	prostate	adenoma	Substitution - Missense
c.1513G>T; p.G505W; 13:92144941-92144941	liver	carcinoma	Substitution - Missense
c.509delT; p.P172fs*12; 13:91693370-91693370	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.836G>A; p.R279Q; 13:91693697-91693697	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.369T>C; p.S123S; 13:91693230-91693230	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1401+10G>T; p.?; 13:91908067-91908067	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1191C>A; p.F397L; 13:91756331-91756331	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1191C>A; p.F397L; 13:91756331-91756331	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1706C>A; p.P569H; 13:92866426-92866426	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.241G>A; p.A81T; 13:91448838-91448838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.541C>G; p.P181A; 13:91693402-91693402	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.241G>A; p.A81T; 13:91448838-91448838	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.289A>G; p.K97E; 13:91448886-91448886	skin	malignant_melanoma	Substitution - Missense
c.897G>C; p.L299F; 13:91693758-91693758	breast	carcinoma	Substitution - Missense
c.196C>T; p.P66S; 13:91448793-91448793	skin	malignant_melanoma	Substitution - Missense
c.1460G>T; p.G487V; 13:92144888-92144888	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.762G>T; p.K254N; 13:91693623-91693623	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1562G>A; p.W521*; 13:92866282-92866282	skin	malignant_melanoma	Substitution - Nonsense
c.412G>T; p.A138S; 13:91693273-91693273	breast	carcinoma	Substitution - Missense
c.625C>A; p.Q209K; 13:91693486-91693486	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.336A>C; p.E112D; 13:91693197-91693197	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.889C>T; p.R297W; 13:91693750-91693750	skin	malignant_melanoma	Substitution - Missense
c.889C>T; p.R297W; 13:91693750-91693750	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.494G>A; p.R165K; 13:91693355-91693355	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.169G>A; p.D57N; 13:91448766-91448766	skin	malignant_melanoma	Substitution - Missense
c.508_509insT; p.P172fs*9; 13:91693369-91693370	liver	carcinoma	Insertion - Frameshift
c.1107G>A; p.M369I; 13:91728618-91728618	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.475C>A; p.P159T; 13:91693336-91693336	pancreas	carcinoma; adenocarcinoma	Substitution - Missense
c.389A>G; p.Y130C; 13:91693250-91693250	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1492T>G; p.C498G; 13:92144920-92144920	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.689A>T; p.N230I; 13:91693550-91693550	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1697T>A; p.M566K; 13:92866417-92866417	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.930C>T; p.Y310Y; 13:91693791-91693791	pancreas	carcinoma	Substitution - coding silent
c.164G>T; p.G55V; 13:91448761-91448761	central_nervous_system; brain	glioma	Substitution - Missense
c.930C>T; p.Y310Y; 13:91693791-91693791	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]