Entrez Gene

Basic Information
Gene ID	51196
Name	PLCE1
Synonymous	phospholipase C, epsilon 1;PLCE1;phospholipase C, epsilon 1
Definition	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1\|PLC-epsilon-1\|pancreas-enriched phospholipase C\|phosphoinositide phospholipase C-epsilon-1\|phosphoinositide-specific phospholipase C epsilon-1
Position	10q23
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.5056T>C; p.S1686P; 10:94293528-94293528	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.917A>G; p.N306S; 10:94031963-94031963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4060G>A; p.E1354K; 10:94265653-94265653	breast	carcinoma	Substitution - Missense
c.187G>A; p.E63K; 10:94031233-94031233	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6269T>G; p.I2090S; 10:94316683-94316683	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2195C>T; p.S732F; 10:94234293-94234293	skin	malignant_melanoma	Substitution - Missense
c.6686G>A; p.G2229E; 10:94324533-94324533	skin	malignant_melanoma	Substitution - Missense
c.3633C>A; p.S1211R; 10:94258878-94258878	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6686G>A; p.G2229E; 10:94324533-94324533	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.681G>T; p.K227N; 10:94031727-94031727	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.452G>A; p.G151E; 10:94031498-94031498	skin	malignant_melanoma	Substitution - Missense
c.282C>T; p.I94I; 10:94031328-94031328	skin	malignant_melanoma	Substitution - coding silent
c.6449G>A; p.R2150Q; 10:94322007-94322007	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3107G>A; p.R1036Q; 10:94252326-94252326	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2700C>T; p.S900S; 10:94246225-94246225	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6799C>T; p.R2267*; 10:94324970-94324970	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1578G>T; p.Q526H; 10:94171265-94171265	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.6576G>T; p.E2192D; 10:94324423-94324423	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1388C>T; p.S463L; 10:94132355-94132355	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5950A>C; p.N1984H; 10:94308646-94308646	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.924T>C; p.D308D; 10:94031970-94031970	breast	carcinoma	Substitution - coding silent
c.4333G>A; p.D1445N; 10:94268980-94268980	skin	malignant_melanoma	Substitution - Missense
c.4333G>A; p.D1445N; 10:94268980-94268980	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2484C>T; p.D828D; 10:94246009-94246009	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4333G>A; p.D1445N; 10:94268980-94268980	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4590A>G; p.Q1530Q; 10:94273645-94273645	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.73G>A; p.A25T; 10:94031119-94031119	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1323C>G; p.C441W; 10:94132290-94132290	skin	malignant_melanoma	Substitution - Missense
c.1961G>T; p.R654I; 10:94234059-94234059	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1199G>A; p.W400*; 10:94032245-94032245	skin	malignant_melanoma	Substitution - Nonsense
c.5208T>G; p.S1736S; 10:94298419-94298419	skin	malignant_melanoma	Substitution - coding silent
c.1180C>T; p.R394C; 10:94032226-94032226	liver	carcinoma	Substitution - Missense
c.3736C>T; p.R1246*; 10:94259072-94259072	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1180C>T; p.R394C; 10:94032226-94032226	liver	carcinoma	Substitution - Missense
c.553G>A; p.A185T; 10:94031599-94031599	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3518C>T; p.S1173F; 10:94255013-94255013	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2084T>C; p.L695P; 10:94234182-94234182	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Missense
c.5881C>T; p.R1961*; 10:94306685-94306685	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.346G>T; p.G116C; 10:94031392-94031392	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6309C>T; p.Y2103Y; 10:94316723-94316723	pancreas	carcinoma	Substitution - coding silent
c.1297C>A; p.H433N; 10:94132264-94132264	skin	malignant_melanoma	Substitution - Missense
c.2239G>T; p.D747Y; 10:94235939-94235939	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4504A>C; p.K1502Q; 10:94270600-94270600	breast	carcinoma	Substitution - Missense
c.6628C>T; p.R2210W; 10:94324475-94324475	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3412G>A; p.A1138T; 10:94254907-94254907	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5307T>C; p.C1769C; 10:94298518-94298518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3796G>A; p.D1266N; 10:94259132-94259132	skin	malignant_melanoma	Substitution - Missense
c.5975C>T; p.S1992F; 10:94308671-94308671	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.4328G>A; p.G1443E; 10:94268975-94268975	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4328G>A; p.G1443E; 10:94268975-94268975	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1003G>T; p.E335*; 10:94032049-94032049	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.422C>T; p.P141L; 10:94031468-94031468	skin	malignant_melanoma	Substitution - Missense
c.5810G>A; p.R1937H; 10:94306614-94306614	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.582C>T; p.D194D; 10:94031628-94031628	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.71C>T; p.S24L; 10:94031117-94031117	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6101G>A; p.G2034E; 10:94313351-94313351	skin	malignant_melanoma	Substitution - Missense
c.3748G>T; p.E1250*; 10:94259084-94259084	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3071G>A; p.R1024Q; 10:94246596-94246596	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1121C>T; p.P374L; 10:94032167-94032167	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.72G>A; p.S24S; 10:94031118-94031118	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1121C>T; p.P374L; 10:94032167-94032167	skin	malignant_melanoma	Substitution - Missense
c.4468T>C; p.S1490P; 10:94270564-94270564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2701C>G; p.P901A; 10:94246226-94246226	pancreas	carcinoma	Substitution - Missense
c.1666C>A; p.L556I; 10:94171353-94171353	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1837C>T; p.L613F; 10:94227333-94227333	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4672C>T; p.Q1558*; 10:94279788-94279788	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4260C>T; p.S1420S; 10:94265937-94265937	skin	malignant_melanoma	Substitution - coding silent
c.909C>T; p.F303F; 10:94031955-94031955	skin	malignant_melanoma	Substitution - coding silent
c.1517_1522delCCAATT; p.S508_N509delSN; 10:94171204-94171209	breast	carcinoma	Deletion - In frame
c.552G>A; p.R184R; 10:94031598-94031598	skin	malignant_melanoma	Substitution - coding silent
c.552G>A; p.R184R; 10:94031598-94031598	skin	malignant_melanoma	Substitution - coding silent
c.552G>A; p.R184R; 10:94031598-94031598	skin	malignant_melanoma	Substitution - coding silent
c.4054-4G>A; p.?; 10:94265643-94265643	liver	carcinoma	Unknown
c.3486C>T; p.A1162A; 10:94254981-94254981	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4054-4G>A; p.?; 10:94265643-94265643	liver	carcinoma	Unknown
c.5378G>A; p.R1793H; 10:94298589-94298589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.191C>T; p.P64L; 10:94031237-94031237	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.481A>G; p.M161V; 10:94031527-94031527	ovary	other; neoplasm	Substitution - Missense
c.947A>C; p.K316T; 10:94031993-94031993	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5679A>T; p.E1893D; 10:94306483-94306483	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3573C>T; p.S1191S; 10:94258818-94258818	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5493G>A; p.E1831E; 10:94304516-94304516	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1869A>C; p.E623D; 10:94227365-94227365	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.5551_5552CC>TT; p.P1851F; 10:94304574-94304575	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1338C>T; p.V446V; 10:94132305-94132305	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4761C>T; p.D1587D; 10:94279877-94279877	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6381G>T; p.E2127D; 10:94321939-94321939	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3762C>G; p.L1254L; 10:94259098-94259098	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1145C>T; p.P382L; 10:94032191-94032191	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3790A>G; p.T1264A; 10:94259126-94259126	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4969G>A; p.E1657K; 10:94284899-94284899	skin	malignant_melanoma	Substitution - Missense
c.2158G>A; p.A720T; 10:94234256-94234256	breast	carcinoma	Substitution - Missense
c.667G>C; p.E223Q; 10:94031713-94031713	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4969G>A; p.E1657K; 10:94284899-94284899	skin	malignant_melanoma	Substitution - Missense
c.1999G>C; p.D667H; 10:94234097-94234097	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1999G>C; p.D667H; 10:94234097-94234097	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3317C>T; p.T1106I; 10:94254227-94254227	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3633C>T; p.S1211S; 10:94258878-94258878	breast	carcinoma	Substitution - coding silent
c.6003+1G>T; p.?; 10:94308700-94308700	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.289G>A; p.D97N; 10:94031335-94031335	skin	malignant_melanoma	Substitution - Missense
c.2212G>T; p.E738*; 10:94234310-94234310	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3492G>A; p.T1164T; 10:94254987-94254987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.940G>T; p.A314S; 10:94031986-94031986	pancreas	carcinoma	Substitution - Missense
c.4763A>G; p.E1588G; 10:94279879-94279879	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4718A>G; p.N1573S; 10:94279834-94279834	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4641G>A; p.T1547T; 10:94273696-94273696	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4852G>A; p.E1618K; 10:94283846-94283846	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5147T>G; p.F1716C; 10:94293619-94293619	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6685G>A; p.G2229R; 10:94324532-94324532	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4875G>A; p.K1625K; 10:94283869-94283869	skin	malignant_melanoma	Substitution - coding silent
c.1431G>A; p.L477L; 10:94132398-94132398	skin	malignant_melanoma	Substitution - coding silent
c.5782G>A; p.V1928I; 10:94306586-94306586	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.6756C>T; p.F2252F; 10:94324927-94324927	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3737G>A; p.R1246Q; 10:94259073-94259073	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3737G>A; p.R1246Q; 10:94259073-94259073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1099A>G; p.K367E; 10:94032145-94032145	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.380A>G; p.N127S; 10:94031426-94031426	breast	carcinoma	Substitution - Missense
c.2575_2576CA>AG; p.Q859R; 10:94246100-94246101	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3062A>G; p.Q1021R; 10:94246587-94246587	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.152C>T; p.S51F; 10:94031198-94031198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2382C>A; p.S794R; 10:94236082-94236082	kidney	other; neoplasm	Substitution - Missense
c.2157C>T; p.G719G; 10:94234255-94234255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.152C>T; p.S51F; 10:94031198-94031198	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2367C>A; p.P789P; 10:94236067-94236067	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.3183C>T; p.P1061P; 10:94252402-94252402	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1750C>A; p.L584I; 10:94171437-94171437	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3183C>T; p.P1061P; 10:94252402-94252402	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.577G>A; p.V193I; 10:94031623-94031623	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.505C>T; p.Q169*; 10:94031551-94031551	skin	malignant_melanoma	Substitution - Nonsense
c.634G>A; p.D212N; 10:94031680-94031680	skin	malignant_melanoma	Substitution - Missense
c.1842G>A; p.T614T; 10:94227338-94227338	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4724_4725delGA; p.R1575fs*4; 10:94279840-94279841	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.6642T>A; p.D2214E; 10:94324489-94324489	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.634G>A; p.D212N; 10:94031680-94031680	skin	malignant_melanoma	Substitution - Missense
c.1496G>A; p.R499H; 10:94171183-94171183	pancreas	carcinoma	Substitution - Missense
c.6615_6616delAA; p.K2206fs*28; 10:94324462-94324463	liver	carcinoma	Deletion - Frameshift
c.5393A>G; p.N1798S; 10:94298604-94298604	skin	malignant_melanoma	Substitution - Missense
c.2078G>A; p.R693H; 10:94234176-94234176	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5393A>G; p.N1798S; 10:94298604-94298604	pancreas	carcinoma	Substitution - Missense
c.1750C>T; p.L584F; 10:94171437-94171437	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3411C>T; p.I1137I; 10:94254906-94254906	skin	malignant_melanoma	Substitution - coding silent
c.681G>A; p.K227K; 10:94031727-94031727	skin	malignant_melanoma	Substitution - coding silent
c.5233C>A; p.L1745I; 10:94298444-94298444	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2557A>G; p.I853V; 10:94246082-94246082	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3375C>T; p.D1125D; 10:94254285-94254285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.473G>A; p.R158K; 10:94031519-94031519	skin	malignant_melanoma	Substitution - Missense
c.445T>C; p.F149L; 10:94031491-94031491	skin	malignant_melanoma	Substitution - Missense
c.6064C>T; p.P2022S; 10:94313314-94313314	skin	malignant_melanoma	Substitution - Missense
c.500G>A; p.G167E; 10:94031546-94031546	skin	malignant_melanoma	Substitution - Missense
c.6235C>A; p.P2079T; 10:94316649-94316649	breast	carcinoma	Substitution - Missense
c.500G>A; p.G167E; 10:94031546-94031546	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4246C>A; p.L1416I; 10:94265923-94265923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.500G>A; p.G167E; 10:94031546-94031546	skin	malignant_melanoma	Substitution - Missense
c.2336G>A; p.R779Q; 10:94236036-94236036	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.770A>G; p.D257G; 10:94031816-94031816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.463G>A; p.E155K; 10:94031509-94031509	skin	malignant_melanoma	Substitution - Missense
c.4381C>T; p.P1461S; 10:94269028-94269028	skin	malignant_melanoma	Substitution - Missense
c.6438A>G; p.P2146P; 10:94321996-94321996	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4233C>T; p.L1411L; 10:94265910-94265910	oesophagus	carcinoma	Substitution - coding silent
c.2471_2472CC>TT; p.S824F; 10:94245996-94245997	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4209C>T; p.I1403I; 10:94265886-94265886	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1935G>A; p.M645I; 10:94227431-94227431	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1935G>A; p.M645I; 10:94227431-94227431	skin	malignant_melanoma	Substitution - Missense
c.940G>A; p.A314T; 10:94031986-94031986	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4285C>T; p.L1429F; 10:94268932-94268932	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1927G>A; p.A643T; 10:94227423-94227423	central_nervous_system; brainstem	glioma; oligoastrocytoma_Grade_III	Substitution - Missense
c.1927G>A; p.A643T; 10:94227423-94227423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5002C>T; p.L1668F; 10:94284932-94284932	skin	malignant_melanoma	Substitution - Missense
c.5396C>T; p.P1799L; 10:94298607-94298607	pancreas	carcinoma	Substitution - Missense
c.2717C>A; p.A906E; 10:94246242-94246242	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5630C>T; p.S1877F; 10:94306434-94306434	skin	malignant_melanoma	Substitution - Missense
c.3566G>A; p.S1189N; 10:94258811-94258811	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.129T>C; p.T43T; 10:94031175-94031175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3605G>A; p.G1202E; 10:94258850-94258850	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.5186G>A; p.R1729Q; 10:94298397-94298397	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6354G>T; p.E2118D; 10:94321912-94321912	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1643G>T; p.R548L; 10:94171330-94171330	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5748G>A; p.L1916L; 10:94306552-94306552	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2895G>A; p.M965I; 10:94246420-94246420	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2027A>G; p.D676G; 10:94234125-94234125	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.771C>T; p.D257D; 10:94031817-94031817	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5891G>A; p.R1964Q; 10:94308587-94308587	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.771C>T; p.D257D; 10:94031817-94031817	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4428C>A; p.N1476K; 10:94270524-94270524	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4931A>G; p.E1644G; 10:94284861-94284861	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4810G>C; p.D1604H; 10:94283804-94283804	liver	carcinoma	Substitution - Missense
c.4810G>C; p.D1604H; 10:94283804-94283804	liver	carcinoma	Substitution - Missense
c.3795C>T; p.S1265S; 10:94259131-94259131	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6T>G; p.T2T; 10:94031052-94031052	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1146G>A; p.P382P; 10:94032192-94032192	breast	carcinoma	Substitution - coding silent
c.2022G>T; p.L674L; 10:94234120-94234120	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3260A>T; p.K1087M; 10:94252479-94252479	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1146G>A; p.P382P; 10:94032192-94032192	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3176C>G; p.P1059R; 10:94252395-94252395	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5115G>A; p.P1705P; 10:94293587-94293587	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1481T>C; p.M494T; 10:94132448-94132448	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6175_6202del28; p.F2060fs*26; 10:94316589-94316616	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.4495G>T; p.E1499*; 10:94270591-94270591	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3500C>T; p.P1167L; 10:94254995-94254995	skin	malignant_melanoma	Substitution - Missense
c.5763C>T; p.N1921N; 10:94306567-94306567	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3689G>A; p.R1230H; 10:94259025-94259025	breast	carcinoma	Substitution - Missense
c.3304G>A; p.D1102N; 10:94254214-94254214	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.713T>C; p.M238T; 10:94031759-94031759	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.6248C>T; p.A2083V; 10:94316662-94316662	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6248C>T; p.A2083V; 10:94316662-94316662	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1666C>T; p.L556F; 10:94171353-94171353	skin	malignant_melanoma	Substitution - Missense
c.4942G>T; p.E1648*; 10:94284872-94284872	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4451C>T; p.S1484L; 10:94270547-94270547	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4451C>T; p.S1484L; 10:94270547-94270547	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.217C>G; p.L73V; 10:94031263-94031263	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.5100T>G; p.I1700M; 10:94293572-94293572	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.754C>A; p.Q252K; 10:94031800-94031800	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5802A>G; p.V1934V; 10:94306606-94306606	liver	carcinoma	Substitution - coding silent
c.5802A>G; p.V1934V; 10:94306606-94306606	liver	carcinoma	Substitution - coding silent
c.5802A>G; p.V1934V; 10:94306606-94306606	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3170G>A; p.R1057Q; 10:94252389-94252389	skin	malignant_melanoma	Substitution - Missense
c.1315G>T; p.G439C; 10:94132282-94132282	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1315G>T; p.G439C; 10:94132282-94132282	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6472G>A; p.V2158I; 10:94322030-94322030	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5203T>A; p.S1735T; 10:94298414-94298414	breast	carcinoma	Substitution - Missense
c.1454G>A; p.S485N; 10:94132421-94132421	pancreas	carcinoma	Substitution - Missense
c.5210C>T; p.S1737F; 10:94298421-94298421	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1843G>A; p.A615T; 10:94227339-94227339	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4447A>G; p.I1483V; 10:94270543-94270543	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.557T>C; p.V186A; 10:94031603-94031603	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1831C>T; p.L611L; 10:94227327-94227327	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5995G>C; p.A1999P; 10:94308691-94308691	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1831C>T; p.L611L; 10:94227327-94227327	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2809G>T; p.D937Y; 10:94246334-94246334	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.769G>T; p.D257Y; 10:94031815-94031815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1072C>A; p.L358M; 10:94032118-94032118	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2183C>A; p.P728Q; 10:94234281-94234281	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2183C>A; p.P728Q; 10:94234281-94234281	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3519C>T; p.S1173S; 10:94255014-94255014	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2540C>G; p.P847R; 10:94246065-94246065	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5277G>A; p.S1759S; 10:94298488-94298488	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.137G>A; p.R46Q; 10:94031183-94031183	skin	malignant_melanoma	Substitution - Missense
c.137G>A; p.R46Q; 10:94031183-94031183	skin	malignant_melanoma	Substitution - Missense
c.137G>A; p.R46Q; 10:94031183-94031183	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.467T>G; p.L156R; 10:94031513-94031513	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.689A>T; p.Y230F; 10:94031735-94031735	skin	malignant_melanoma	Substitution - Missense
c.4626A>G; p.L1542L; 10:94273681-94273681	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.467T>G; p.L156R; 10:94031513-94031513	stomach	adenocarcinoma	Substitution - Missense
c.1681C>T; p.R561W; 10:94171368-94171368	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1962A>C; p.R654S; 10:94234060-94234060	pancreas	carcinoma	Substitution - Missense
c.2074A>T; p.T692S; 10:94234172-94234172	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4203T>G; p.Y1401*; 10:94265880-94265880	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.332G>T; p.R111I; 10:94031378-94031378	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1425G>A; p.T475T; 10:94132392-94132392	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.4203T>G; p.Y1401*; 10:94265880-94265880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6197A>G; p.Y2066C; 10:94316611-94316611	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6262G>C; p.E2088Q; 10:94316676-94316676	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.5290G>T; p.A1764S; 10:94298501-94298501	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.136C>A; p.R46R; 10:94031182-94031182	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3815A>G; p.D1272G; 10:94262494-94262494	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1518C>T; p.A506A; 10:94171205-94171205	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2944G>A; p.D982N; 10:94246469-94246469	skin	malignant_melanoma	Substitution - Missense
c.3600G>A; p.M1200I; 10:94258845-94258845	urinary_tract; bladder	carcinoma	Substitution - Missense
c.58G>A; p.V20I; 10:94031104-94031104	skin	malignant_melanoma	Substitution - Missense
c.1028G>A; p.G343E; 10:94032074-94032074	NS	malignant_melanoma	Substitution - Missense
c.5266C>A; p.H1756N; 10:94298477-94298477	breast	carcinoma	Substitution - Missense
c.1809G>T; p.E603D; 10:94171496-94171496	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1028G>A; p.G343E; 10:94032074-94032074	NS	malignant_melanoma	Substitution - Missense
c.5682C>T; p.V1894V; 10:94306486-94306486	thyroid	carcinoma	Substitution - coding silent
c.3600G>A; p.M1200I; 10:94258845-94258845	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4724G>C; p.R1575P; 10:94279840-94279840	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1060G>A; p.G354S; 10:94032106-94032106	skin	malignant_melanoma	Substitution - Missense
c.3583C>T; p.R1195W; 10:94258828-94258828	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3485C>T; p.A1162V; 10:94254980-94254980	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5169T>C; p.S1723S; 10:94298380-94298380	skin	malignant_melanoma	Substitution - coding silent
c.3583C>T; p.R1195W; 10:94258828-94258828	stomach	adenocarcinoma	Substitution - Missense
c.5204C>A; p.S1735Y; 10:94298415-94298415	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1060G>A; p.G354S; 10:94032106-94032106	skin	malignant_melanoma	Substitution - Missense
c.3013C>G; p.L1005V; 10:94246538-94246538	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5026A>G; p.K1676E; 10:94284956-94284956	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2167C>T; p.L723F; 10:94234265-94234265	skin	malignant_melanoma	Substitution - Missense
c.3767C>T; p.T1256I; 10:94259103-94259103	skin	malignant_melanoma	Substitution - Missense
c.3001G>A; p.G1001R; 10:94246526-94246526	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1936G>A; p.E646K; 10:94227432-94227432	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.322A>C; p.N108H; 10:94031368-94031368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.773C>T; p.T258I; 10:94031819-94031819	skin	malignant_melanoma	Substitution - Missense
c.3876G>A; p.S1292S; 10:94262555-94262555	skin	malignant_melanoma	Substitution - coding silent
c.520G>A; p.E174K; 10:94031566-94031566	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2254C>T; p.R752*; 10:94235954-94235954	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.5111A>G; p.N1704S; 10:94293583-94293583	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1714T>G; p.L572V; 10:94171401-94171401	ovary	other; neoplasm	Substitution - Missense
c.2020_2022delCTG; p.L674delL; 10:94234118-94234120	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.6311T>C; p.M2104T; 10:94316725-94316725	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3045C>T; p.F1015F; 10:94246570-94246570	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.516C>T; p.I172I; 10:94031562-94031562	skin	malignant_melanoma	Substitution - coding silent
c.1810-1G>C; p.?; 10:94227305-94227305	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2735A>G; p.N912S; 10:94246260-94246260	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2735A>G; p.N912S; 10:94246260-94246260	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.562C>T; p.H188Y; 10:94031608-94031608	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.82G>A; p.E28K; 10:94031128-94031128	skin	malignant_melanoma	Substitution - Missense
c.1492G>T; p.E498*; 10:94132459-94132459	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2019delC; p.L674fs*1; 10:94234117-94234117	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.3796G>T; p.D1266Y; 10:94259132-94259132	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>T; p.E249*; 10:94031791-94031791	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4452G>A; p.S1484S; 10:94270548-94270548	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1101G>T; p.K367N; 10:94032147-94032147	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1461T>A; p.F487L; 10:94132428-94132428	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2551C>T; p.L851L; 10:94246076-94246076	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5214T>G; p.P1738P; 10:94298425-94298425	skin	malignant_melanoma	Substitution - coding silent
c.890T>A; p.L297*; 10:94031936-94031936	skin	malignant_melanoma	Substitution - Nonsense
c.1408C>T; p.L470F; 10:94132375-94132375	skin	malignant_melanoma	Substitution - Missense
c.433G>A; p.E145K; 10:94031479-94031479	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.133A>G; p.R45G; 10:94031179-94031179	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2258T>C; p.V753A; 10:94235958-94235958	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4191C>T; p.P1397P; 10:94265868-94265868	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4829C>A; p.S1610*; 10:94283823-94283823	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4301G>A; p.R1434Q; 10:94268948-94268948	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5308C>T; p.R1770C; 10:94298519-94298519	liver	carcinoma	Substitution - Missense
c.6023G>A; p.R2008K; 10:94313273-94313273	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2282C>A; p.S761*; 10:94235982-94235982	thyroid	other; neoplasm	Substitution - Nonsense
c.1606G>A; p.A536T; 10:94171293-94171293	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4557C>A; p.F1519L; 10:94273612-94273612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4577C>A; p.P1526H; 10:94273632-94273632	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.941C>T; p.A314V; 10:94031987-94031987	skin	malignant_melanoma	Substitution - Missense
c.4253G>A; p.G1418E; 10:94265930-94265930	skin	malignant_melanoma	Substitution - Missense
c.110A>G; p.N37S; 10:94031156-94031156	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1111C>T; p.P371S; 10:94032157-94032157	skin	malignant_melanoma	Substitution - Missense
c.3488G>A; p.G1163E; 10:94254983-94254983	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2119G>C; p.G707R; 10:94234217-94234217	kidney	other; neoplasm	Substitution - Missense
c.1719C>T; p.P573P; 10:94171406-94171406	skin	malignant_melanoma	Substitution - coding silent
c.1311C>T; p.S437S; 10:94132278-94132278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5623-1G>T; p.?; 10:94306426-94306426	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.950G>A; p.S317N; 10:94031996-94031996	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5544G>A; p.K1848K; 10:94304567-94304567	skin	malignant_melanoma	Substitution - coding silent
c.1831C>A; p.L611M; 10:94227327-94227327	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2930G>A; p.G977E; 10:94246455-94246455	skin	malignant_melanoma	Substitution - Missense
c.274G>A; p.E92K; 10:94031320-94031320	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2476G>T; p.E826*; 10:94246001-94246001	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.578T>C; p.V193A; 10:94031624-94031624	skin	malignant_melanoma	Substitution - Missense
c.1307T>A; p.I436K; 10:94132274-94132274	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3455T>A; p.L1152*; 10:94254950-94254950	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2588_2589insG; p.A865fs*25; 10:94246113-94246114	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3594C>T; p.G1198G; 10:94258839-94258839	bone; pelvis	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.213G>A; p.K71K; 10:94031259-94031259	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6411C>A; p.F2137L; 10:94321969-94321969	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.574G>A; p.E192K; 10:94031620-94031620	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5436G>T; p.V1812V; 10:94298647-94298647	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1051C>G; p.L351V; 10:94032097-94032097	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5436G>T; p.V1812V; 10:94298647-94298647	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2699C>T; p.S900F; 10:94246224-94246224	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.154C>A; p.H52N; 10:94031200-94031200	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5212C>T; p.P1738S; 10:94298423-94298423	skin	malignant_melanoma	Substitution - Missense
c.816G>A; p.K272K; 10:94031862-94031862	skin	malignant_melanoma	Substitution - coding silent
c.5790C>T; p.F1930F; 10:94306594-94306594	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4146delA; p.N1384fs*39; 10:94265823-94265823	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4758G>T; p.E1586D; 10:94279874-94279874	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.297G>A; p.A99A; 10:94031343-94031343	skin	malignant_melanoma	Substitution - coding silent
c.1956G>C; p.R652S; 10:94234054-94234054	breast	carcinoma	Substitution - Missense
c.297G>A; p.A99A; 10:94031343-94031343	skin	malignant_melanoma	Substitution - coding silent
c.1218A>G; p.A406A; 10:94132185-94132185	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1716G>T; p.L572F; 10:94171403-94171403	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.1716G>T; p.L572F; 10:94171403-94171403	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.3996C>T; p.F1332F; 10:94262675-94262675	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.388G>T; p.A130S; 10:94031434-94031434	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4484G>A; p.R1495Q; 10:94270580-94270580	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4484G>A; p.R1495Q; 10:94270580-94270580	skin	malignant_melanoma	Substitution - Missense
c.4484G>A; p.R1495Q; 10:94270580-94270580	skin	malignant_melanoma	Substitution - Missense
c.5692G>C; p.G1898R; 10:94306496-94306496	breast	carcinoma	Substitution - Missense
c.4484G>A; p.R1495Q; 10:94270580-94270580	NS	malignant_melanoma	Substitution - Missense
c.4484G>A; p.R1495Q; 10:94270580-94270580	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5458+3A>G; p.?; 10:94298672-94298672	liver	carcinoma	Unknown
c.4484G>A; p.R1495Q; 10:94270580-94270580	NS	malignant_melanoma	Substitution - Missense
c.4263G>A; p.S1421S; 10:94265940-94265940	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.5458+3A>G; p.?; 10:94298672-94298672	liver	carcinoma	Unknown
c.4484G>A; p.R1495Q; 10:94270580-94270580	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2425A>C; p.I809L; 10:94245950-94245950	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1214A>T; p.N405I; 10:94132181-94132181	oesophagus	carcinoma	Substitution - Missense
c.32T>G; p.L11R; 10:94031078-94031078	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2041C>T; p.H681Y; 10:94234139-94234139	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5615C>G; p.S1872C; 10:94304638-94304638	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2923C>A; p.L975I; 10:94246448-94246448	bone	osteosarcoma	Substitution - Missense
c.3172A>C; p.N1058H; 10:94252391-94252391	liver	carcinoma	Substitution - Missense
c.3172A>C; p.N1058H; 10:94252391-94252391	liver	carcinoma	Substitution - Missense
c.1558A>T; p.K520*; 10:94171245-94171245	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1659C>T; p.V553V; 10:94171346-94171346	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1659C>T; p.V553V; 10:94171346-94171346	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3342G>T; p.E1114D; 10:94254252-94254252	breast	carcinoma	Substitution - Missense
c.3992A>C; p.D1331A; 10:94262671-94262671	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.93A>G; p.E31E; 10:94031139-94031139	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.591G>A; p.M197I; 10:94031637-94031637	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2666G>T; p.S889I; 10:94246191-94246191	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.39T>C; p.P13P; 10:94031085-94031085	central_nervous_system; brain	glioma	Substitution - coding silent
c.1427C>T; p.S476F; 10:94132394-94132394	skin; hand	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1185G>T; p.L395L; 10:94032231-94032231	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.182A>C; p.K61T; 10:94031228-94031228	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5946C>A; p.F1982L; 10:94308642-94308642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1755C>T; p.T585T; 10:94171442-94171442	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1690G>T; p.G564C; 10:94171377-94171377	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6571G>A; p.E2191K; 10:94324418-94324418	skin	malignant_melanoma	Substitution - Missense
c.6571G>A; p.E2191K; 10:94324418-94324418	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6571G>A; p.E2191K; 10:94324418-94324418	central_nervous_system; brain	glioma	Substitution - Missense
c.1053G>A; p.L351L; 10:94032099-94032099	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3643T>G; p.F1215V; 10:94258888-94258888	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4884G>T; p.K1628N; 10:94283878-94283878	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2375G>A; p.G792E; 10:94236075-94236075	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2452A>G; p.N818D; 10:94245977-94245977	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.355C>T; p.Q119*; 10:94031401-94031401	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5491G>A; p.E1831K; 10:94304514-94304514	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4262C>T; p.S1421L; 10:94265939-94265939	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1986C>A; p.F662L; 10:94234084-94234084	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6084C>T; p.T2028T; 10:94313334-94313334	skin	malignant_melanoma	Substitution - coding silent
c.228G>A; p.A76A; 10:94031274-94031274	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.6181T>G; p.L2061V; 10:94316595-94316595	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5890C>T; p.R1964*; 10:94308586-94308586	skin	malignant_melanoma	Substitution - Nonsense
c.3974G>A; p.G1325D; 10:94262653-94262653	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.825G>A; p.M275I; 10:94031871-94031871	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2613C>T; p.D871D; 10:94246138-94246138	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6733G>A; p.D2245N; 10:94324904-94324904	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.606T>C; p.C202C; 10:94031652-94031652	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.810T>C; p.C270C; 10:94031856-94031856	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6448C>T; p.R2150*; 10:94322006-94322006	liver	carcinoma	Substitution - Nonsense
c.856G>A; p.D286N; 10:94031902-94031902	skin	malignant_melanoma	Substitution - Missense
c.305T>A; p.L102H; 10:94031351-94031351	skin	malignant_melanoma	Substitution - Missense
c.6306A>G; p.G2102G; 10:94316720-94316720	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3791C>T; p.T1264I; 10:94259127-94259127	skin	malignant_melanoma	Substitution - Missense
c.3791C>T; p.T1264I; 10:94259127-94259127	skin	malignant_melanoma	Substitution - Missense
c.3791C>T; p.T1264I; 10:94259127-94259127	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5888A>G; p.Y1963C; 10:94308584-94308584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4935G>A; p.L1645L; 10:94284865-94284865	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5026A>C; p.K1676Q; 10:94284956-94284956	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5530G>A; p.V1844I; 10:94304553-94304553	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5446T>A; p.Y1816N; 10:94298657-94298657	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.806C>T; p.S269F; 10:94031852-94031852	skin	malignant_melanoma	Substitution - Missense
c.479C>A; p.S160Y; 10:94031525-94031525	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1810-2A>C; p.?; 10:94227304-94227304	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1684G>A; p.D562N; 10:94171371-94171371	skin	malignant_melanoma	Substitution - Missense
c.5179G>T; p.G1727C; 10:94298390-94298390	skin	malignant_melanoma	Substitution - Missense
c.1304G>A; p.R435K; 10:94132271-94132271	liver	carcinoma	Substitution - Missense
c.4682C>A; p.S1561Y; 10:94279798-94279798	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1304G>A; p.R435K; 10:94132271-94132271	liver	carcinoma	Substitution - Missense
c.2673G>T; p.L891F; 10:94246198-94246198	central_nervous_system; brain	glioma	Substitution - Missense
c.2850C>T; p.G950G; 10:94246375-94246375	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5167A>C; p.S1723R; 10:94293639-94293639	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1288G>A; p.E430K; 10:94132255-94132255	ovary	other; neoplasm	Substitution - Missense

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]