Entrez Gene

Basic Information
Gene ID	26047
Name	CNTNAP2
Synonymous	contactin associated protein-like 2;CNTNAP2;contactin associated protein-like 2
Definition	cell recognition molecule Caspr2\|contactin-associated protein-like 2\|homolog of Drosophila neurexin IV
Position	7q35
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 0.07.

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.3304G>A; p.V1102I; 7:148229702-148229702	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2020G>A; p.A674T; 7:147639228-147639228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2698C>T; p.R900W; 7:148147634-148147634	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.638C>T; p.A213V; 7:147108234-147108234	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3902C>T; p.A1301V; 7:148415522-148415522	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.340C>T; p.R114W; 7:146839842-146839842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2020G>A; p.A674T; 7:147639228-147639228	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1482G>T; p.E494D; 7:147300274-147300274	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3862C>T; p.R1288C; 7:148415482-148415482	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3862C>T; p.R1288C; 7:148415482-148415482	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1804T>A; p.Y602N; 7:147562164-147562164	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2807G>A; p.C936Y; 7:148172275-148172275	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1681A>C; p.N561H; 7:147485945-147485945	breast	carcinoma	Substitution - Missense
c.2259G>A; p.R753R; 7:147977865-147977865	skin	malignant_melanoma	Substitution - coding silent
c.100A>G; p.K34E; 7:146774273-146774273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2263G>A; p.D755N; 7:147977869-147977869	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3862C>T; p.R1288C; 7:148415482-148415482	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3851G>T; p.R1284L; 7:148415471-148415471	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1482G>T; p.E494D; 7:147300274-147300274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1416C>T; p.L472L; 7:147300208-147300208	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1282G>A; p.E428K; 7:147132443-147132443	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1623G>T; p.P541P; 7:147395733-147395733	pancreas	NS	Substitution - coding silent
c.100A>G; p.K34E; 7:146774273-146774273	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.155C>T; p.S52F; 7:146774328-146774328	skin	malignant_melanoma	Substitution - Missense
c.206G>A; p.G69E; 7:146774379-146774379	skin	malignant_melanoma	Substitution - Missense
c.2834T>G; p.V945G; 7:148172302-148172302	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1648G>A; p.D550N; 7:147395758-147395758	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1159C>A; p.P387T; 7:147132320-147132320	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3132G>T; p.P1044P; 7:148217409-148217409	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.206G>A; p.G69E; 7:146774379-146774379	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2539A>G; p.K847E; 7:148118273-148118273	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1499-9G>T; p.?; 7:147395600-147395600	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1670+2T>C; p.?; 7:147395782-147395782	liver	carcinoma	Unknown
c.3730C>T; p.P1244S; 7:148409405-148409405	skin	malignant_melanoma	Substitution - Missense
c.129C>T; p.L43L; 7:146774302-146774302	breast	carcinoma	Substitution - coding silent
c.3621C>T; p.G1207G; 7:148383794-148383794	ovary	other; neoplasm	Substitution - coding silent
c.3621C>T; p.G1207G; 7:148383794-148383794	ovary	other; neoplasm	Substitution - coding silent
c.1609G>A; p.A537T; 7:147395719-147395719	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2330G>T; p.R777L; 7:147977936-147977936	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3621C>T; p.G1207G; 7:148383794-148383794	ovary	other; neoplasm	Substitution - coding silent
c.3217G>T; p.D1073Y; 7:148217494-148217494	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3700G>A; p.D1234N; 7:148383873-148383873	skin	malignant_melanoma	Substitution - Missense
c.3700G>A; p.D1234N; 7:148383873-148383873	skin	malignant_melanoma	Substitution - Missense
c.887T>G; p.M296R; 7:147121111-147121111	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3482G>A; p.G1161E; 7:148383655-148383655	skin	malignant_melanoma	Substitution - Missense
c.804A>C; p.G268G; 7:147121028-147121028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.178C>T; p.P60S; 7:146774351-146774351	NS	malignant_melanoma	Substitution - Missense
c.998_999insT; p.K334fs*16; 7:147128751-147128752	prostate	carcinoma; adenocarcinoma	Insertion - Frameshift
c.178C>T; p.P60S; 7:146774351-146774351	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1563G>A; p.M521I; 7:147395673-147395673	liver	carcinoma	Substitution - Missense
c.1563G>A; p.M521I; 7:147395673-147395673	liver	carcinoma	Substitution - Missense
c.2063A>C; p.Y688S; 7:147639271-147639271	skin	malignant_melanoma	Substitution - Missense
c.3482G>A; p.G1161E; 7:148383655-148383655	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1691A>G; p.E564G; 7:147485955-147485955	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3131C>T; p.P1044L; 7:148217408-148217408	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.697G>A; p.G233R; 7:147108293-147108293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1504C>A; p.L502M; 7:147395614-147395614	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3131C>T; p.P1044L; 7:148217408-148217408	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3351C>T; p.I1117I; 7:148229749-148229749	skin	malignant_melanoma	Substitution - coding silent
c.1914C>A; p.T638T; 7:147639122-147639122	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.887T>A; p.M296K; 7:147121111-147121111	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2196C>T; p.I732I; 7:147903662-147903662	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.678G>T; p.L226L; 7:147108274-147108274	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1359G>C; p.L453F; 7:147300151-147300151	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3460C>T; p.L1154L; 7:148267111-148267111	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1359G>C; p.L453F; 7:147300151-147300151	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3709G>A; p.D1237N; 7:148383882-148383882	skin	malignant_melanoma	Substitution - Missense
c.3604C>T; p.H1202Y; 7:148383777-148383777	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1080T>C; p.N360N; 7:147128833-147128833	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3179C>T; p.A1060V; 7:148217456-148217456	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.492G>T; p.L164L; 7:147043996-147043996	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2930G>T; p.G977V; 7:148172398-148172398	central_nervous_system; brain	glioma	Substitution - Missense
c.2930G>T; p.G977V; 7:148172398-148172398	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.792A>G; p.S264S; 7:147121016-147121016	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3946C>T; p.P1316S; 7:148415566-148415566	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3333_3334insC; p.H1113fs*52; 7:148229731-148229732	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1898-2A>T; p.?; 7:147639104-147639104	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2951A>G; p.Y984C; 7:148172419-148172419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2695G>A; p.D899N; 7:148147631-148147631	skin	malignant_melanoma	Substitution - Missense
c.980C>A; p.S327Y; 7:147128733-147128733	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2460C>G; p.S820R; 7:148118194-148118194	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3133G>A; p.D1045N; 7:148217410-148217410	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1990G>A; p.V664I; 7:147639198-147639198	ovary	other; neoplasm	Substitution - Missense
c.1990G>A; p.V664I; 7:147639198-147639198	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1684C>T; p.H562Y; 7:147485948-147485948	skin	malignant_melanoma	Substitution - Missense
c.791C>T; p.S264L; 7:147121015-147121015	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.788C>A; p.T263K; 7:147121012-147121012	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3330A>G; p.G1110G; 7:148229728-148229728	skin	malignant_melanoma	Substitution - coding silent
c.1684C>T; p.H562Y; 7:147485948-147485948	skin	malignant_melanoma	Substitution - Missense
c.392G>A; p.G131E; 7:146839894-146839894	skin	malignant_melanoma	Substitution - Missense
c.1718G>A; p.W573*; 7:147485982-147485982	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.341G>A; p.R114Q; 7:146839843-146839843	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.464T>C; p.I155T; 7:147043968-147043968	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.146G>T; p.S49I; 7:146774319-146774319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1441G>A; p.A481T; 7:147300233-147300233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.176C>A; p.S59Y; 7:146774349-146774349	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1930T>G; p.L644V; 7:147639138-147639138	skin	malignant_melanoma	Substitution - Missense
c.531A>C; p.E177D; 7:147044035-147044035	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1848T>C; p.P616P; 7:147562208-147562208	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.176C>A; p.S59Y; 7:146774349-146774349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.531A>C; p.E177D; 7:147044035-147044035	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1897+1G>T; p.?; 7:147562258-147562258	lung	carcinoma; adenocarcinoma	Unknown
c.2666G>T; p.R889M; 7:148147602-148147602	large_intestine; colon	carcinoma	Substitution - Missense
c.3282C>T; p.T1094T; 7:148229680-148229680	skin	malignant_melanoma	Substitution - coding silent
c.877G>T; p.D293Y; 7:147121101-147121101	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1536C>T; p.V512V; 7:147395646-147395646	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3654G>A; p.P1218P; 7:148383827-148383827	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1579G>T; p.D527Y; 7:147395689-147395689	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1536C>T; p.V512V; 7:147395646-147395646	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1930T>C; p.L644L; 7:147639138-147639138	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1247C>T; p.A416V; 7:147132408-147132408	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.852G>T; p.Q284H; 7:147121076-147121076	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.950G>T; p.G317V; 7:147128703-147128703	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3203G>C; p.S1068T; 7:148217480-148217480	central_nervous_system; brain	glioma	Substitution - Missense
c.2808C>T; p.C936C; 7:148172276-148172276	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1849G>C; p.D617H; 7:147562209-147562209	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1991T>C; p.V664A; 7:147639199-147639199	skin	malignant_melanoma	Substitution - Missense
c.3014T>G; p.V1005G; 7:148217291-148217291	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.180C>T; p.P60P; 7:146774353-146774353	skin	malignant_melanoma	Substitution - coding silent
c.2944G>C; p.E982Q; 7:148172412-148172412	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2706G>A; p.P902P; 7:148147642-148147642	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2256-6A>T; p.?; 7:147977856-147977856	stomach	carcinoma; adenocarcinoma	Unknown
c.1585C>T; p.Q529*; 7:147395695-147395695	skin	malignant_melanoma	Substitution - Nonsense
c.2256-6A>T; p.?; 7:147977856-147977856	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3177G>T; p.K1059N; 7:148217454-148217454	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.282G>C; p.Q94H; 7:146839784-146839784	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.644A>G; p.N215S; 7:147108240-147108240	liver	carcinoma	Substitution - Missense
c.247C>T; p.Q83*; 7:146839749-146839749	skin	malignant_melanoma	Substitution - Nonsense
c.1864C>T; p.L622L; 7:147562224-147562224	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2993G>T; p.G998V; 7:148172461-148172461	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1864C>T; p.L622L; 7:147562224-147562224	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.256C>T; p.Q86*; 7:146839758-146839758	skin	malignant_melanoma	Substitution - Nonsense
c.2377_2378GG>AA; p.G793K; 7:147977983-147977984	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3192C>T; p.L1064L; 7:148217469-148217469	skin	malignant_melanoma	Substitution - coding silent
c.3561C>T; p.I1187I; 7:148383734-148383734	skin	malignant_melanoma	Substitution - coding silent
c.1085G>T; p.G362V; 7:147132246-147132246	liver	carcinoma	Substitution - Missense
c.759C>A; p.S253R; 7:147120983-147120983	prostate	carcinoma	Substitution - Missense
c.1570A>C; p.I524L; 7:147395680-147395680	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3941A>G; p.N1314S; 7:148415561-148415561	skin	malignant_melanoma	Substitution - Missense
c.1085G>T; p.G362V; 7:147132246-147132246	liver	carcinoma	Substitution - Missense
c.2968G>A; p.D990N; 7:148172436-148172436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.440G>A; p.R147Q; 7:147043944-147043944	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2471C>A; p.S824Y; 7:148118205-148118205	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2835G>C; p.V945V; 7:148172303-148172303	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2968G>A; p.D990N; 7:148172436-148172436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.209G>T; p.G70V; 7:146839711-146839711	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.440G>A; p.R147Q; 7:147043944-147043944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2471C>A; p.S824Y; 7:148118205-148118205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1878A>G; p.K626K; 7:147562238-147562238	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1958A>C; p.Y653S; 7:147639166-147639166	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3080G>A; p.R1027K; 7:148217357-148217357	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1670G>T; p.R557I; 7:147395780-147395780	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2574T>G; p.F858L; 7:148147510-148147510	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3601G>A; p.A1201T; 7:148383774-148383774	skin	malignant_melanoma	Substitution - Missense
c.458C>T; p.P153L; 7:147043962-147043962	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1777+10A>G; p.?; 7:147486051-147486051	stomach	carcinoma; adenocarcinoma	Unknown
c.2312T>C; p.V771A; 7:147977918-147977918	ovary	other; neoplasm	Substitution - Missense
c.576C>A; p.G192G; 7:147108172-147108172	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3491A>G; p.D1164G; 7:148383664-148383664	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.269G>A; p.G90D; 7:146839771-146839771	skin	malignant_melanoma	Substitution - Missense
c.576C>A; p.G192G; 7:147108172-147108172	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2651G>A; p.R884Q; 7:148147587-148147587	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1777+10A>G; p.?; 7:147486051-147486051	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1085G>A; p.G362E; 7:147132246-147132246	skin	malignant_melanoma	Substitution - Missense
c.3936G>A; p.M1312I; 7:148415556-148415556	skin	malignant_melanoma	Substitution - Missense
c.348C>G; p.L116L; 7:146839850-146839850	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1085G>A; p.G362E; 7:147132246-147132246	skin	malignant_melanoma	Substitution - Missense
c.1085G>A; p.G362E; 7:147132246-147132246	skin	malignant_melanoma	Substitution - Missense
c.1085G>A; p.G362E; 7:147132246-147132246	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1138G>A; p.A380T; 7:147132299-147132299	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1085G>A; p.G362E; 7:147132246-147132246	skin	malignant_melanoma	Substitution - Missense
c.1085G>A; p.G362E; 7:147132246-147132246	skin	malignant_melanoma	Substitution - Missense
c.1085G>A; p.G362E; 7:147132246-147132246	skin	malignant_melanoma	Substitution - Missense
c.1085G>A; p.G362E; 7:147132246-147132246	skin	malignant_melanoma	Substitution - Missense
c.1158G>T; p.V386V; 7:147132319-147132319	pancreas	carcinoma	Substitution - coding silent
c.1085G>A; p.G362E; 7:147132246-147132246	skin; leg	malignant_melanoma; superficial_spreading	Substitution - Missense
c.1300C>T; p.H434Y; 7:147132461-147132461	skin	malignant_melanoma	Substitution - Missense
c.1085G>A; p.G362E; 7:147132246-147132246	skin	malignant_melanoma	Substitution - Missense
c.994A>T; p.N332Y; 7:147128747-147128747	skin	malignant_melanoma	Substitution - Missense
c.3095G>A; p.R1032K; 7:148217372-148217372	skin	malignant_melanoma	Substitution - Missense
c.712T>A; p.L238M; 7:147108308-147108308	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3105C>T; p.N1035N; 7:148217382-148217382	breast	carcinoma	Substitution - coding silent
c.3132G>A; p.P1044P; 7:148217409-148217409	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2717G>A; p.R906H; 7:148147653-148147653	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3047G>A; p.R1016Q; 7:148217324-148217324	large_intestine; colon	NS	Substitution - Missense
c.3047G>A; p.R1016Q; 7:148217324-148217324	skin	malignant_melanoma	Substitution - Missense
c.848G>A; p.R283H; 7:147121072-147121072	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2451_2452GG>AA; p.E818K; 7:148118185-148118186	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3372C>A; p.I1124I; 7:148229770-148229770	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3047G>A; p.R1016Q; 7:148217324-148217324	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.478C>A; p.R160S; 7:147043982-147043982	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.848G>A; p.R283H; 7:147121072-147121072	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.848G>A; p.R283H; 7:147121072-147121072	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.848G>A; p.R283H; 7:147121072-147121072	pancreas	carcinoma	Substitution - Missense
c.478C>A; p.R160S; 7:147043982-147043982	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1965A>T; p.P655P; 7:147639173-147639173	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3433C>T; p.L1145F; 7:148267084-148267084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1011G>T; p.M337I; 7:147128764-147128764	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3131C>A; p.P1044Q; 7:148217408-148217408	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.176C>T; p.S59F; 7:146774349-146774349	skin; extremity	malignant_melanoma	Substitution - Missense
c.285C>T; p.I95I; 7:146839787-146839787	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2355C>T; p.S785S; 7:147977961-147977961	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3176A>C; p.K1059T; 7:148217453-148217453	skin	malignant_melanoma	Substitution - Missense
c.3700G>T; p.D1234Y; 7:148383873-148383873	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2903C>T; p.T968I; 7:148172371-148172371	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.663T>C; p.S221S; 7:147108259-147108259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3418A>G; p.S1140G; 7:148267069-148267069	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.631G>T; p.V211F; 7:147108227-147108227	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1574A>C; p.Q525P; 7:147395684-147395684	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3183C>G; p.P1061P; 7:148217460-148217460	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3987G>T; p.W1329C; 7:148415607-148415607	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1467A>C; p.Q489H; 7:147300259-147300259	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.2635G>A; p.D879N; 7:148147571-148147571	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1074C>A; p.P358P; 7:147128827-147128827	liver	carcinoma	Substitution - coding silent
c.1664T>C; p.I555T; 7:147395774-147395774	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1094G>A; p.S365N; 7:147132255-147132255	skin	malignant_melanoma	Substitution - Missense
c.2196C>A; p.I732I; 7:147903662-147903662	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2175C>T; p.I725I; 7:147903641-147903641	skin	malignant_melanoma	Substitution - coding silent
c.2698C>A; p.R900R; 7:148147634-148147634	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.940-3A>T; p.?; 7:147128690-147128690	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1690G>A; p.E564K; 7:147485954-147485954	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1101T>C; p.S367S; 7:147132262-147132262	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.102A>T; p.K34N; 7:146774275-146774275	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.720_721insA; p.A243fs*31; 7:147108316-147108317	skin; sole	malignant_melanoma; acral_lentiginous	Insertion - Frameshift
c.633C>A; p.V211V; 7:147108229-147108229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3928G>A; p.A1310T; 7:148415548-148415548	pancreas	carcinoma	Substitution - Missense
c.1821G>C; p.Q607H; 7:147562181-147562181	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3928G>A; p.A1310T; 7:148415548-148415548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2650C>T; p.R884W; 7:148147586-148147586	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2135A>T; p.N712I; 7:147903601-147903601	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3928G>A; p.A1310T; 7:148415548-148415548	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3928G>A; p.A1310T; 7:148415548-148415548	pancreas	carcinoma	Substitution - Missense
c.2942T>C; p.L981P; 7:148172410-148172410	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3521G>T; p.G1174V; 7:148383694-148383694	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1422C>G; p.I474M; 7:147300214-147300214	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1519A>T; p.N507Y; 7:147395629-147395629	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1259G>A; p.G420D; 7:147132420-147132420	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2831G>A; p.G944E; 7:148172299-148172299	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.131C>A; p.P44H; 7:146774304-146774304	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2205C>A; p.N735K; 7:147903671-147903671	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3631G>A; p.E1211K; 7:148383804-148383804	breast	carcinoma	Substitution - Missense
c.973C>G; p.P325A; 7:147128726-147128726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3483G>A; p.G1161G; 7:148383656-148383656	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2851G>T; p.E951*; 7:148172319-148172319	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.3483G>A; p.G1161G; 7:148383656-148383656	skin	malignant_melanoma	Substitution - coding silent
c.3483G>A; p.G1161G; 7:148383656-148383656	skin	malignant_melanoma	Substitution - coding silent
c.2099-1G>T; p.?; 7:147903564-147903564	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3958G>A; p.E1320K; 7:148415578-148415578	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3483G>A; p.G1161G; 7:148383656-148383656	skin	malignant_melanoma	Substitution - coding silent
c.1602C>T; p.Y534Y; 7:147395712-147395712	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1384C>T; p.R462C; 7:147300176-147300176	skin	malignant_melanoma	Substitution - Missense
c.1648G>T; p.D550Y; 7:147395758-147395758	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2151C>T; p.Y717Y; 7:147903617-147903617	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2138A>G; p.E713G; 7:147903604-147903604	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2953C>A; p.H985N; 7:148172421-148172421	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1384C>T; p.R462C; 7:147300176-147300176	skin	malignant_melanoma	Substitution - Missense
c.1171A>C; p.N391H; 7:147132332-147132332	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1150C>G; p.L384V; 7:147132311-147132311	kidney	other; neoplasm	Substitution - Missense
c.1448G>A; p.R483Q; 7:147300240-147300240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1448G>A; p.R483Q; 7:147300240-147300240	skin	malignant_melanoma	Substitution - Missense
c.1448G>A; p.R483Q; 7:147300240-147300240	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.698G>A; p.G233E; 7:147108294-147108294	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1448G>A; p.R483Q; 7:147300240-147300240	skin	malignant_melanoma	Substitution - Missense
c.1448G>A; p.R483Q; 7:147300240-147300240	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1448G>A; p.R483Q; 7:147300240-147300240	skin	malignant_melanoma	Substitution - Missense
c.1448G>A; p.R483Q; 7:147300240-147300240	breast	carcinoma	Substitution - Missense
c.1448G>A; p.R483Q; 7:147300240-147300240	skin	malignant_melanoma	Substitution - Missense
c.1448G>A; p.R483Q; 7:147300240-147300240	skin	malignant_melanoma	Substitution - Missense
c.1448G>A; p.R483Q; 7:147300240-147300240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1448G>A; p.R483Q; 7:147300240-147300240	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1663A>G; p.I555V; 7:147395773-147395773	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1489delT; p.F498fs*5; 7:147300281-147300281	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3007A>G; p.K1003E; 7:148172475-148172475	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2641C>T; p.Q881*; 7:148147577-148147577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.385C>T; p.Q129*; 7:146839887-146839887	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3340A>G; p.S1114G; 7:148229738-148229738	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1861C>A; p.P621T; 7:147562221-147562221	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3851G>A; p.R1284Q; 7:148415471-148415471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2400C>T; p.A800A; 7:148118134-148118134	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1861C>A; p.P621T; 7:147562221-147562221	liver	carcinoma	Substitution - Missense
c.2930G>C; p.G977A; 7:148172398-148172398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1762G>C; p.A588P; 7:147486026-147486026	breast	carcinoma	Substitution - Missense
c.1258G>T; p.G420C; 7:147132419-147132419	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3850C>T; p.R1284W; 7:148415470-148415470	breast	carcinoma	Substitution - Missense
c.159C>T; p.S53S; 7:146774332-146774332	skin	malignant_melanoma	Substitution - coding silent
c.1452T>A; p.T484T; 7:147300244-147300244	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.517G>A; p.G173R; 7:147044021-147044021	skin	malignant_melanoma	Substitution - Missense
c.1323G>A; p.K441K; 7:147132484-147132484	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1145G>T; p.S382I; 7:147132306-147132306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1437A>G; p.A479A; 7:147300229-147300229	liver	carcinoma	Substitution - coding silent
c.2912G>A; p.G971E; 7:148172380-148172380	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2704C>T; p.P902S; 7:148147640-148147640	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1335C>T; p.I445I; 7:147132496-147132496	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1335C>T; p.I445I; 7:147132496-147132496	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1481A>G; p.E494G; 7:147300273-147300273	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1186T>C; p.S396P; 7:147132347-147132347	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.602G>T; p.R201I; 7:147108198-147108198	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1319C>T; p.T440I; 7:147132480-147132480	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1092G>C; p.L364F; 7:147132253-147132253	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.85C>T; p.P29S; 7:146116961-146116961	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.409C>T; p.P137S; 7:147043913-147043913	skin	malignant_melanoma	Substitution - Missense
c.3716-8_3716-7insTT; p.?; 7:148409383-148409384	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2339C>A; p.S780*; 7:147977945-147977945	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.409C>T; p.P137S; 7:147043913-147043913	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.97+1G>A; p.?; 7:146116974-146116974	peritoneum; appendix	other; pseudomyxoma_peritonei	Unknown
c.1197C>T; p.F399F; 7:147132358-147132358	skin	malignant_melanoma	Substitution - coding silent
c.2893G>C; p.G965R; 7:148172361-148172361	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1197C>T; p.F399F; 7:147132358-147132358	skin	malignant_melanoma	Substitution - coding silent
c.1330C>A; p.Q444K; 7:147132491-147132491	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1439C>T; p.S480L; 7:147300231-147300231	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.879C>A; p.D293E; 7:147121103-147121103	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3248-4A>G; p.?; 7:148229642-148229642	stomach	carcinoma; adenocarcinoma	Unknown
c.2609T>C; p.V870A; 7:148147545-148147545	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1813C>A; p.L605I; 7:147562173-147562173	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2609T>C; p.V870A; 7:148147545-148147545	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1635G>A; p.A545A; 7:147395745-147395745	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1381G>T; p.V461F; 7:147300173-147300173	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1187C>T; p.S396L; 7:147132348-147132348	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1187C>T; p.S396L; 7:147132348-147132348	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2418A>T; p.P806P; 7:148118152-148118152	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3561C>A; p.I1187I; 7:148383734-148383734	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3642C>T; p.C1214C; 7:148383815-148383815	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1785C>T; p.Y595Y; 7:147562145-147562145	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1395C>G; p.A465A; 7:147300187-147300187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1999G>A; p.A667T; 7:147639207-147639207	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1943C>T; p.T648M; 7:147639151-147639151	pancreas	carcinoma	Substitution - Missense
c.2336G>T; p.G779V; 7:147977942-147977942	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1398G>T; p.K466N; 7:147300190-147300190	liver	carcinoma	Substitution - Missense
c.1609G>C; p.A537P; 7:147395719-147395719	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1398G>T; p.K466N; 7:147300190-147300190	liver	carcinoma	Substitution - Missense
c.1398G>T; p.K466N; 7:147300190-147300190	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1943C>T; p.T648M; 7:147639151-147639151	prostate	carcinoma	Substitution - Missense
c.1943C>T; p.T648M; 7:147639151-147639151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1943C>T; p.T648M; 7:147639151-147639151	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1999G>A; p.A667T; 7:147639207-147639207	large_intestine	adenoma	Substitution - Missense
c.1777T>A; p.S593T; 7:147486041-147486041	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.275G>A; p.R92Q; 7:146839777-146839777	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1581C>T; p.D527D; 7:147395691-147395691	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.3731C>T; p.P1244L; 7:148409406-148409406	skin	malignant_melanoma	Substitution - Missense
c.2318G>C; p.G773A; 7:147977924-147977924	breast	carcinoma	Substitution - Missense
c.275G>A; p.R92Q; 7:146839777-146839777	pancreas	carcinoma	Substitution - Missense
c.205G>A; p.G69R; 7:146774378-146774378	skin	malignant_melanoma	Substitution - Missense
c.275G>A; p.R92Q; 7:146839777-146839777	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.275G>A; p.R92Q; 7:146839777-146839777	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2215C>T; p.P739S; 7:147903681-147903681	skin	malignant_melanoma	Substitution - Missense
c.552G>A; p.W184*; 7:147108148-147108148	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Nonsense
c.2215C>T; p.P739S; 7:147903681-147903681	skin	malignant_melanoma	Substitution - Missense
c.2946G>T; p.E982D; 7:148172414-148172414	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.765G>C; p.Q255H; 7:147120989-147120989	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3280A>G; p.T1094A; 7:148229678-148229678	pancreas	carcinoma	Substitution - Missense
c.1186T>G; p.S396A; 7:147132347-147132347	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2120G>T; p.W707L; 7:147903586-147903586	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2238C>T; p.D746D; 7:147903704-147903704	central_nervous_system; brain	glioma	Substitution - coding silent
c.3879C>T; p.Y1293Y; 7:148415499-148415499	skin	malignant_melanoma	Substitution - coding silent
c.109G>A; p.E37K; 7:146774282-146774282	skin	malignant_melanoma	Substitution - Missense
c.2197G>A; p.E733K; 7:147903663-147903663	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2197G>A; p.E733K; 7:147903663-147903663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.993G>T; p.K331N; 7:147128746-147128746	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.317G>A; p.S106N; 7:146839819-146839819	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2197G>A; p.E733K; 7:147903663-147903663	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1107G>A; p.V369V; 7:147132268-147132268	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3276T>G; p.G1092G; 7:148229674-148229674	breast	carcinoma	Substitution - coding silent
c.1052C>A; p.A351D; 7:147128805-147128805	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1680C>T; p.P560P; 7:147485944-147485944	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.132C>T; p.P44P; 7:146774305-146774305	skin	malignant_melanoma	Substitution - coding silent
c.1205G>T; p.R402M; 7:147132366-147132366	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.131C>T; p.P44L; 7:146774304-146774304	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3309C>T; p.D1103D; 7:148229707-148229707	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1857C>T; p.S619S; 7:147562217-147562217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1142_1143insA; p.S382fs*10; 7:147132303-147132304	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1857C>T; p.S619S; 7:147562217-147562217	liver	carcinoma	Substitution - coding silent
c.2623A>G; p.T875A; 7:148147559-148147559	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1857C>T; p.S619S; 7:147562217-147562217	central_nervous_system; brain	glioma	Substitution - coding silent
c.3724G>A; p.D1242N; 7:148409399-148409399	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1020C>T; p.I340I; 7:147128773-147128773	skin	malignant_melanoma	Substitution - coding silent
c.1355G>C; p.G452A; 7:147300147-147300147	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3302A>G; p.D1101G; 7:148229700-148229700	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1032C>A; p.G344G; 7:147128785-147128785	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.310T>A; p.Y104N; 7:146839812-146839812	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.431G>T; p.G144V; 7:147043935-147043935	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3688C>A; p.P1230T; 7:148383861-148383861	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.538G>T; p.G180C; 7:147044042-147044042	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1846C>T; p.P616S; 7:147562206-147562206	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2197G>T; p.E733*; 7:147903663-147903663	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.1989C>T; p.L663L; 7:147639197-147639197	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1989C>T; p.L663L; 7:147639197-147639197	skin	malignant_melanoma	Substitution - coding silent
c.2883C>T; p.S961S; 7:148172351-148172351	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3934A>G; p.M1312V; 7:148415554-148415554	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.232G>T; p.D78Y; 7:146839734-146839734	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.400T>A; p.W134R; 7:146839902-146839902	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1224T>C; p.G408G; 7:147132385-147132385	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1617G>T; p.R539S; 7:147395727-147395727	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1010T>C; p.M337T; 7:147128763-147128763	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1656T>C; p.C552C; 7:147395766-147395766	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2744G>A; p.R915H; 7:148147680-148147680	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2744G>A; p.R915H; 7:148147680-148147680	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2744G>A; p.R915H; 7:148147680-148147680	prostate	carcinoma	Substitution - Missense
c.2744G>A; p.R915H; 7:148147680-148147680	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1870C>A; p.P624T; 7:147562230-147562230	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2236G>A; p.D746N; 7:147903702-147903702	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.361G>C; p.G121R; 7:146839863-146839863	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.946T>G; p.F316V; 7:147128699-147128699	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.562A>G; p.I188V; 7:147108158-147108158	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2236G>A; p.D746N; 7:147903702-147903702	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3303C>T; p.D1101D; 7:148229701-148229701	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1633G>A; p.A545T; 7:147395743-147395743	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1141A>G; p.T381A; 7:147132302-147132302	skin	malignant_melanoma	Substitution - Missense
c.1658C>T; p.A553V; 7:147395768-147395768	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.188C>T; p.A63V; 7:146774361-146774361	skin	malignant_melanoma	Substitution - Missense
c.999C>T; p.F333F; 7:147128752-147128752	skin	malignant_melanoma	Substitution - coding silent
c.1609G>T; p.A537S; 7:147395719-147395719	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1578G>A; p.V526V; 7:147395688-147395688	stomach	adenocarcinoma	Substitution - coding silent
c.561T>A; p.V187V; 7:147108157-147108157	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2820G>C; p.L940F; 7:148172288-148172288	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3262C>T; p.R1088*; 7:148229660-148229660	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.401G>T; p.W134L; 7:146839903-146839903	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3235G>A; p.V1079I; 7:148217512-148217512	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3262C>T; p.R1088*; 7:148229660-148229660	skin	malignant_melanoma	Substitution - Nonsense
c.3262C>T; p.R1088*; 7:148229660-148229660	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3262C>T; p.R1088*; 7:148229660-148229660	skin	malignant_melanoma	Substitution - Nonsense
c.3713C>T; p.S1238L; 7:148383886-148383886	skin	malignant_melanoma	Substitution - Missense
c.3262C>T; p.R1088*; 7:148229660-148229660	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2153G>A; p.W718*; 7:147903619-147903619	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3954C>T; p.F1318F; 7:148415574-148415574	skin	malignant_melanoma	Substitution - coding silent
c.664G>A; p.E222K; 7:147108260-147108260	skin	malignant_melanoma	Substitution - Missense
c.2742C>G; p.T914T; 7:148147678-148147678	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.194T>G; p.I65R; 7:146774367-146774367	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.444C>A; p.H148Q; 7:147043948-147043948	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.899G>A; p.R300H; 7:147121123-147121123	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.444C>A; p.H148Q; 7:147043948-147043948	liver	carcinoma	Substitution - Missense
c.2235C>T; p.C745C; 7:147903701-147903701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2235C>T; p.C745C; 7:147903701-147903701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2235C>T; p.C745C; 7:147903701-147903701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1472A>C; p.K491T; 7:147300264-147300264	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2235C>T; p.C745C; 7:147903701-147903701	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2235C>T; p.C745C; 7:147903701-147903701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3967G>A; p.D1323N; 7:148415587-148415587	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1673G>T; p.C558F; 7:147485937-147485937	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2235C>T; p.C745C; 7:147903701-147903701	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1472A>C; p.K491T; 7:147300264-147300264	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2235C>T; p.C745C; 7:147903701-147903701	pancreas	carcinoma	Substitution - coding silent
c.3943G>A; p.D1315N; 7:148415563-148415563	skin	malignant_melanoma	Substitution - Missense
c.1720G>A; p.D574N; 7:147485984-147485984	skin	malignant_melanoma	Substitution - Missense
c.907G>A; p.G303R; 7:147121131-147121131	skin	malignant_melanoma	Substitution - Missense
c.3844C>T; p.L1282L; 7:148415464-148415464	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3844C>T; p.L1282L; 7:148415464-148415464	skin	malignant_melanoma	Substitution - coding silent
c.1336G>A; p.D446N; 7:147132497-147132497	skin	malignant_melanoma	Substitution - Missense
c.487C>T; p.P163S; 7:147043991-147043991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1336G>A; p.D446N; 7:147132497-147132497	skin; extremity	malignant_melanoma	Substitution - Missense
c.1786G>T; p.E596*; 7:147562146-147562146	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.907G>A; p.G303R; 7:147121131-147121131	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1515G>A; p.M505I; 7:147395625-147395625	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3352A>C; p.T1118P; 7:148229750-148229750	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3352A>C; p.T1118P; 7:148229750-148229750	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3352A>C; p.T1118P; 7:148229750-148229750	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3352A>C; p.T1118P; 7:148229750-148229750	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3352A>C; p.T1118P; 7:148229750-148229750	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3988C>G; p.L1330V; 7:148415608-148415608	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.3352A>C; p.T1118P; 7:148229750-148229750	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1515G>A; p.M505I; 7:147395625-147395625	skin	malignant_melanoma	Substitution - Missense
c.3352A>C; p.T1118P; 7:148229750-148229750	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2168C>T; p.P723L; 7:147903634-147903634	skin	malignant_melanoma	Substitution - Missense
c.3352A>C; p.T1118P; 7:148229750-148229750	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3747A>C; p.Q1249H; 7:148409422-148409422	skin	malignant_melanoma	Substitution - Missense
c.3596C>T; p.A1199V; 7:148383769-148383769	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1185C>A; p.F395L; 7:147132346-147132346	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2262G>A; p.K754K; 7:147977868-147977868	skin	malignant_melanoma	Substitution - coding silent
c.471C>A; p.R157R; 7:147043975-147043975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2136C>T; p.N712N; 7:147903602-147903602	breast	carcinoma	Substitution - coding silent
c.1177G>A; p.D393N; 7:147132338-147132338	skin	malignant_melanoma	Substitution - Missense
c.3750C>T; p.G1250G; 7:148409425-148409425	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.898C>T; p.R300C; 7:147121122-147121122	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1098T>C; p.F366F; 7:147132259-147132259	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2994A>G; p.G998G; 7:148172462-148172462	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1514T>C; p.M505T; 7:147395624-147395624	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2060C>A; p.S687Y; 7:147639268-147639268	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.738C>G; p.V246V; 7:147108334-147108334	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.445G>A; p.E149K; 7:147043949-147043949	skin	malignant_melanoma	Substitution - Missense
c.1163G>T; p.G388V; 7:147132324-147132324	NS	malignant_melanoma	Substitution - Missense
c.445G>A; p.E149K; 7:147043949-147043949	skin	malignant_melanoma	Substitution - Missense
c.445G>A; p.E149K; 7:147043949-147043949	skin	malignant_melanoma	Substitution - Missense
c.445G>A; p.E149K; 7:147043949-147043949	skin	malignant_melanoma	Substitution - Missense
c.1709C>T; p.S570L; 7:147485973-147485973	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1163G>T; p.G388V; 7:147132324-147132324	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.445G>A; p.E149K; 7:147043949-147043949	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1426G>T; p.G476*; 7:147300218-147300218	liver	carcinoma	Substitution - Nonsense
c.3799G>T; p.V1267F; 7:148415419-148415419	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.445G>A; p.E149K; 7:147043949-147043949	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.445G>A; p.E149K; 7:147043949-147043949	liver	carcinoma	Substitution - Missense
c.1163G>T; p.G388V; 7:147132324-147132324	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.445G>A; p.E149K; 7:147043949-147043949	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1137C>T; p.N379N; 7:147132298-147132298	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.1137C>T; p.N379N; 7:147132298-147132298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1137C>T; p.N379N; 7:147132298-147132298	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.978C>G; p.S326R; 7:147128731-147128731	skin	malignant_melanoma	Substitution - Missense
c.1137C>T; p.N379N; 7:147132298-147132298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1858G>A; p.G620R; 7:147562218-147562218	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.940-5C>T; p.?; 7:147128688-147128688	oesophagus	carcinoma; adenocarcinoma	Unknown
c.363G>T; p.G121G; 7:146839865-146839865	breast	carcinoma	Substitution - coding silent
c.3186C>T; p.C1062C; 7:148217463-148217463	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1174C>A; p.Q392K; 7:147132335-147132335	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1166G>A; p.R389Q; 7:147132327-147132327	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1578G>T; p.V526V; 7:147395688-147395688	kidney	other; neoplasm	Substitution - coding silent
c.1399G>A; p.E467K; 7:147300191-147300191	skin	malignant_melanoma	Substitution - Missense
c.262G>C; p.D88H; 7:146839764-146839764	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.613A>G; p.M205V; 7:147108209-147108209	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1166G>A; p.R389Q; 7:147132327-147132327	skin	malignant_melanoma	Substitution - Missense
c.2604G>A; p.E868E; 7:148147540-148147540	skin	malignant_melanoma	Substitution - coding silent
c.1166G>A; p.R389Q; 7:147132327-147132327	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1670+1G>A; p.?; 7:147395781-147395781	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1566G>C; p.Q522H; 7:147395676-147395676	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1022A>T; p.N341I; 7:147128775-147128775	skin	malignant_melanoma	Substitution - Missense
c.1670+1G>A; p.?; 7:147395781-147395781	urinary_tract; bladder	carcinoma	Unknown
c.1953C>T; p.V651V; 7:147639161-147639161	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1126G>A; p.V376I; 7:147132287-147132287	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2190C>A; p.C730*; 7:147903656-147903656	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.230C>G; p.S77*; 7:146839732-146839732	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.262G>A; p.D88N; 7:146839764-146839764	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1038C>T; p.N346N; 7:147128791-147128791	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1788G>T; p.E596D; 7:147562148-147562148	pleura	pulmonary_blastoma	Substitution - Missense
c.2165G>A; p.G722E; 7:147903631-147903631	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1544C>A; p.P515H; 7:147395654-147395654	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1447C>A; p.R483R; 7:147300239-147300239	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2329C>T; p.R777C; 7:147977935-147977935	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1054A>G; p.R352G; 7:147128807-147128807	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1849G>A; p.D617N; 7:147562209-147562209	breast	carcinoma	Substitution - Missense
c.1869G>A; p.G623G; 7:147562229-147562229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2356G>A; p.V786I; 7:147977962-147977962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2826G>A; p.M942I; 7:148172294-148172294	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2460C>T; p.S820S; 7:148118194-148118194	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.148A>T; p.S50C; 7:146774321-146774321	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.854G>C; p.G285A; 7:147121078-147121078	soft_tissue; striated_muscle	rhabdomyosarcoma; alveolar	Substitution - Missense
c.2604G>T; p.E868D; 7:148147540-148147540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2280A>G; p.S760S; 7:147977886-147977886	thyroid	other; neoplasm	Substitution - coding silent
c.2356G>A; p.V786I; 7:147977962-147977962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2280A>G; p.S760S; 7:147977886-147977886	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1084-1G>A; p.?; 7:147132244-147132244	skin; mucosal	malignant_melanoma	Unknown
c.253C>T; p.L85F; 7:146839755-146839755	skin	malignant_melanoma	Substitution - Missense
c.1635G>T; p.A545A; 7:147395745-147395745	NS	NS	Substitution - coding silent
c.3889G>A; p.E1297K; 7:148415509-148415509	skin	malignant_melanoma	Substitution - Missense
c.2067C>T; p.F689F; 7:147639275-147639275	skin	malignant_melanoma	Substitution - coding silent
c.253C>T; p.L85F; 7:146839755-146839755	skin	malignant_melanoma	Substitution - Missense
c.668G>T; p.G223V; 7:147108264-147108264	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.478C>T; p.R160C; 7:147043982-147043982	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.253C>T; p.L85F; 7:146839755-146839755	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3799G>A; p.V1267I; 7:148415419-148415419	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3799G>A; p.V1267I; 7:148415419-148415419	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1972T>G; p.Y658D; 7:147639180-147639180	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.305G>A; p.G102E; 7:146839807-146839807	skin	malignant_melanoma	Substitution - Missense
c.1283A>G; p.E428G; 7:147132444-147132444	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2043C>A; p.Y681*; 7:147639251-147639251	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.440G>C; p.R147P; 7:147043944-147043944	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2369G>A; p.R790H; 7:147977975-147977975	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.305G>A; p.G102E; 7:146839807-146839807	skin	malignant_melanoma	Substitution - Missense
c.3179C>A; p.A1060E; 7:148217456-148217456	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1929C>T; p.D643D; 7:147639137-147639137	breast	carcinoma	Substitution - coding silent
c.1793C>T; p.S598F; 7:147562153-147562153	skin	malignant_melanoma	Substitution - Missense
c.1389C>T; p.F463F; 7:147300181-147300181	skin	malignant_melanoma	Substitution - coding silent
c.1793C>T; p.S598F; 7:147562153-147562153	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1389C>T; p.F463F; 7:147300181-147300181	skin	malignant_melanoma	Substitution - coding silent
c.681C>T; p.H227H; 7:147108277-147108277	breast	carcinoma	Substitution - coding silent
c.2416C>T; p.P806S; 7:148118150-148118150	skin	malignant_melanoma	Substitution - Missense
c.1862C>A; p.P621H; 7:147562222-147562222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1793C>T; p.S598F; 7:147562153-147562153	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2436C>A; p.F812L; 7:148118170-148118170	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2209A>T; p.T737S; 7:147903675-147903675	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3036G>A; p.G1012G; 7:148217313-148217313	skin	malignant_melanoma	Substitution - coding silent
c.714G>A; p.L238L; 7:147108310-147108310	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1075T>G; p.S359A; 7:147128828-147128828	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2187C>T; p.A729A; 7:147903653-147903653	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3036G>A; p.G1012G; 7:148217313-148217313	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.689G>A; p.G230E; 7:147108285-147108285	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3036G>A; p.G1012G; 7:148217313-148217313	skin	malignant_melanoma	Substitution - coding silent
c.444C>T; p.H148H; 7:147043948-147043948	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.2010C>A; p.D670E; 7:147639218-147639218	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2870C>G; p.S957C; 7:148172338-148172338	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.444C>T; p.H148H; 7:147043948-147043948	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2375A>G; p.Q792R; 7:147977981-147977981	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2052G>T; p.Q684H; 7:147639260-147639260	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2641C>A; p.Q881K; 7:148147577-148147577	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.402G>A; p.W134*; 7:146839904-146839904	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.3864C>T; p.R1288R; 7:148415484-148415484	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.515T>G; p.I172S; 7:147044019-147044019	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1426G>A; p.G476R; 7:147300218-147300218	skin	malignant_melanoma	Substitution - Missense
c.2817C>A; p.S939S; 7:148172285-148172285	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3120G>A; p.Q1040Q; 7:148217397-148217397	skin	malignant_melanoma	Substitution - coding silent
c.925G>A; p.D309N; 7:147121149-147121149	skin	malignant_melanoma	Substitution - Missense
c.664G>C; p.E222Q; 7:147108260-147108260	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1456A>G; p.S486G; 7:147300248-147300248	liver	carcinoma	Substitution - Missense
c.1625G>A; p.G542E; 7:147395735-147395735	skin	malignant_melanoma	Substitution - Missense
c.1172A>C; p.N391T; 7:147132333-147132333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1625G>A; p.G542E; 7:147395735-147395735	skin	malignant_melanoma	Substitution - Missense
c.1520A>T; p.N507I; 7:147395630-147395630	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1423G>A; p.D475N; 7:147300215-147300215	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1603G>A; p.E535K; 7:147395713-147395713	skin	malignant_melanoma	Substitution - Missense
c.1603G>A; p.E535K; 7:147395713-147395713	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1254T>C; p.N418N; 7:147132415-147132415	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.294T>A; p.I98I; 7:146839796-146839796	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.3716-6_3716-5insTG; p.?; 7:148409385-148409386	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1603G>A; p.E535K; 7:147395713-147395713	skin	malignant_melanoma	Substitution - Missense
c.574G>A; p.G192S; 7:147108170-147108170	skin	malignant_melanoma	Substitution - Missense
c.632T>C; p.V211A; 7:147108228-147108228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2139G>A; p.E713E; 7:147903605-147903605	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2576C>T; p.S859L; 7:148147512-148147512	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1315C>A; p.Q439K; 7:147132476-147132476	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2576C>T; p.S859L; 7:148147512-148147512	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2304C>A; p.S768R; 7:147977910-147977910	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2304C>A; p.S768R; 7:147977910-147977910	liver	carcinoma	Substitution - Missense
c.156C>T; p.S52S; 7:146774329-146774329	skin	malignant_melanoma	Substitution - coding silent
c.2576C>T; p.S859L; 7:148147512-148147512	skin	malignant_melanoma	Substitution - Missense
c.856C>T; p.R286W; 7:147121080-147121080	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1326G>T; p.M442I; 7:147132487-147132487	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3666C>T; p.S1222S; 7:148383839-148383839	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1853G>A; p.G618D; 7:147562213-147562213	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1853G>A; p.G618D; 7:147562213-147562213	urinary_tract; bladder	carcinoma	Substitution - Missense
c.675C>T; p.I225I; 7:147108271-147108271	skin	malignant_melanoma	Substitution - coding silent
c.1952T>C; p.V651A; 7:147639160-147639160	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3010G>T; p.D1004Y; 7:148172478-148172478	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.542G>C; p.C181S; 7:147044046-147044046	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3237C>G; p.V1079V; 7:148217514-148217514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2780C>T; p.A927V; 7:148172248-148172248	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.847C>T; p.R283C; 7:147121071-147121071	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.389A>T; p.D130V; 7:146839891-146839891	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1913C>T; p.T638I; 7:147639121-147639121	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1944G>A; p.T648T; 7:147639152-147639152	prostate	carcinoma	Substitution - coding silent
c.2098G>A; p.D700N; 7:147639306-147639306	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2403C>A; p.A801A; 7:148118137-148118137	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1011G>A; p.M337I; 7:147128764-147128764	skin	malignant_melanoma	Substitution - Missense
c.2464G>A; p.D822N; 7:148118198-148118198	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2385G>A; p.R795R; 7:148118119-148118119	skin	malignant_melanoma	Substitution - coding silent
c.1496G>C; p.G499A; 7:147300288-147300288	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2098G>A; p.D700N; 7:147639306-147639306	urinary_tract; bladder	carcinoma	Substitution - Missense
c.551-1G>A; p.?; 7:147108146-147108146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.949G>T; p.G317*; 7:147128702-147128702	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1990G>T; p.V664F; 7:147639198-147639198	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.73G>A; p.A25T; 7:146116949-146116949	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3154C>A; p.R1052S; 7:148217431-148217431	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1551C>A; p.F517L; 7:147395661-147395661	skin	malignant_melanoma	Substitution - Missense
c.754G>T; p.G252*; 7:147108350-147108350	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2152T>C; p.W718R; 7:147903618-147903618	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2152T>C; p.W718R; 7:147903618-147903618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1499G>T; p.G500V; 7:147395609-147395609	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2152T>C; p.W718R; 7:147903618-147903618	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3067G>A; p.A1023T; 7:148217344-148217344	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1632C>T; p.F544F; 7:147395742-147395742	skin	malignant_melanoma	Substitution - coding silent
c.1632C>T; p.F544F; 7:147395742-147395742	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1632C>T; p.F544F; 7:147395742-147395742	skin	malignant_melanoma	Substitution - coding silent
c.1632C>T; p.F544F; 7:147395742-147395742	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.580G>A; p.V194I; 7:147108176-147108176	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1632C>T; p.F544F; 7:147395742-147395742	skin	malignant_melanoma	Substitution - coding silent
c.217G>A; p.G73R; 7:146839719-146839719	skin	malignant_melanoma	Substitution - Missense
c.1632C>T; p.F544F; 7:147395742-147395742	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3069A>G; p.A1023A; 7:148217346-148217346	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2068T>C; p.C690R; 7:147639276-147639276	breast	carcinoma	Substitution - Missense
c.1632C>T; p.F544F; 7:147395742-147395742	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1257G>A; p.L419L; 7:147132418-147132418	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.130C>A; p.P44T; 7:146774303-146774303	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2398G>A; p.A800T; 7:148118132-148118132	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2812C>T; p.R938C; 7:148172280-148172280	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2038G>A; p.E680K; 7:147639246-147639246	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2794G>A; p.G932S; 7:148172262-148172262	skin	malignant_melanoma	Substitution - Missense
c.3362_3364delAGA; p.K1122delK; 7:148229760-148229762	ovary	carcinoma; serous_carcinoma	Deletion - In frame
c.2706G>C; p.P902P; 7:148147642-148147642	oesophagus	carcinoma	Substitution - coding silent
c.2286A>G; p.K762K; 7:147977892-147977892	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1659G>T; p.A553A; 7:147395769-147395769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2677C>A; p.Q893K; 7:148147613-148147613	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2638G>T; p.D880Y; 7:148147574-148147574	oesophagus	carcinoma	Substitution - Missense
c.3283C>T; p.R1095*; 7:148229681-148229681	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2697C>T; p.D899D; 7:148147633-148147633	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1664T>A; p.I555K; 7:147395774-147395774	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1442C>T; p.A481V; 7:147300234-147300234	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.3650C>T; p.S1217L; 7:148383823-148383823	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.265T>G; p.F89V; 7:146839767-146839767	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1520A>C; p.N507T; 7:147395630-147395630	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3650C>T; p.S1217L; 7:148383823-148383823	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.120C>A; p.V40V; 7:146774293-146774293	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.153C>A; p.S51S; 7:146774326-146774326	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.153C>A; p.S51S; 7:146774326-146774326	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.153C>A; p.S51S; 7:146774326-146774326	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.959C>A; p.P320H; 7:147128712-147128712	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3607G>T; p.V1203F; 7:148383780-148383780	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3667C>T; p.P1223S; 7:148383840-148383840	skin	malignant_melanoma	Substitution - Missense
c.615G>A; p.M205I; 7:147108211-147108211	skin	malignant_melanoma	Substitution - Missense
c.1907T>A; p.V636E; 7:147639115-147639115	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.735G>A; p.L245L; 7:147108331-147108331	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.615G>A; p.M205I; 7:147108211-147108211	breast	carcinoma	Substitution - Missense
c.615G>A; p.M205I; 7:147108211-147108211	skin; mucosal	malignant_melanoma	Substitution - Missense
c.682_683GG>AA; p.G228>?; 7:147108278-147108279	NS	malignant_melanoma	Complex
c.3785C>A; p.A1262D; 7:148409460-148409460	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1039A>G; p.I347V; 7:147128792-147128792	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1447C>T; p.R483*; 7:147300239-147300239	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Nonsense
c.1033G>A; p.V345I; 7:147128786-147128786	prostate	carcinoma	Substitution - Missense
c.3047G>T; p.R1016L; 7:148217324-148217324	skin	malignant_melanoma	Substitution - Missense
c.1910G>A; p.W637*; 7:147639118-147639118	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.3010+1G>A; p.?; 7:148172479-148172479	skin; head_neck	malignant_melanoma; superficial_spreading	Unknown
c.1033G>A; p.V345I; 7:147128786-147128786	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1447C>T; p.R483*; 7:147300239-147300239	skin	malignant_melanoma	Substitution - Nonsense
c.1033G>A; p.V345I; 7:147128786-147128786	breast	carcinoma	Substitution - Missense
c.1910G>A; p.W637*; 7:147639118-147639118	skin	malignant_melanoma	Substitution - Nonsense
c.2526G>C; p.K842N; 7:148118260-148118260	skin	malignant_melanoma	Substitution - Missense
c.1346C>T; p.S449L; 7:147132507-147132507	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1346C>T; p.S449L; 7:147132507-147132507	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.785A>T; p.H262L; 7:147121009-147121009	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1266G>T; p.V422V; 7:147132427-147132427	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1058G>T; p.R353M; 7:147128811-147128811	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3095G>T; p.R1032I; 7:148217372-148217372	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1617G>A; p.R539R; 7:147395727-147395727	skin	malignant_melanoma	Substitution - coding silent
c.1655G>A; p.C552Y; 7:147395765-147395765	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.539G>A; p.G180D; 7:147044043-147044043	oesophagus	carcinoma	Substitution - Missense
c.1859G>C; p.G620A; 7:147562219-147562219	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1617G>A; p.R539R; 7:147395727-147395727	skin	malignant_melanoma	Substitution - coding silent
c.2170G>A; p.G724R; 7:147903636-147903636	large_intestine; colon	adenoma	Substitution - Missense
c.133C>A; p.H45N; 7:146774306-146774306	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1108G>T; p.E370*; 7:147132269-147132269	breast	carcinoma	Substitution - Nonsense
c.2715C>T; p.I905I; 7:148147651-148147651	skin	malignant_melanoma	Substitution - coding silent
c.981_982CA>AG; p.S327>?; 7:147128734-147128735	lung	carcinoma; adenocarcinoma	Complex
c.755-5C>T; p.?; 7:147120974-147120974	endometrium	carcinoma; serous_carcinoma	Unknown
c.993G>A; p.K331K; 7:147128746-147128746	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3427G>A; p.D1143N; 7:148267078-148267078	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3789C>A; p.I1263I; 7:148409464-148409464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3376C>A; p.L1126I; 7:148229774-148229774	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2324C>T; p.T775I; 7:147977930-147977930	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1354G>A; p.G452R; 7:147300146-147300146	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3269A>G; p.N1090S; 7:148229667-148229667	skin	malignant_melanoma	Substitution - Missense
c.2760_2761CC>AA; p.S920>?; 7:148147696-148147697	lung	carcinoma; adenocarcinoma	Complex
c.734T>C; p.L245P; 7:147108330-147108330	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3738T>C; p.N1246N; 7:148409413-148409413	pancreas	carcinoma	Substitution - coding silent
c.961T>A; p.F321I; 7:147128714-147128714	skin	malignant_melanoma	Substitution - Missense
c.1692G>A; p.E564E; 7:147485956-147485956	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3723G>A; p.A1241A; 7:148409398-148409398	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1523C>T; p.S508L; 7:147395633-147395633	skin; neck	malignant_melanoma	Substitution - Missense
c.3723G>A; p.A1241A; 7:148409398-148409398	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1114T>A; p.Y372N; 7:147132275-147132275	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1515G>T; p.M505I; 7:147395625-147395625	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.479G>A; p.R160H; 7:147043983-147043983	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.479G>A; p.R160H; 7:147043983-147043983	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.479G>A; p.R160H; 7:147043983-147043983	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3798C>G; p.G1266G; 7:148415418-148415418	lung; left_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.45G>T; p.L15L; 7:146116921-146116921	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.215G>A; p.G72E; 7:146839717-146839717	skin	malignant_melanoma	Substitution - Missense
c.1790C>A; p.P597H; 7:147562150-147562150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.937G>A; p.E313K; 7:147121161-147121161	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1477G>T; p.G493C; 7:147300269-147300269	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.203G>T; p.R68I; 7:146774376-146774376	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.961T>G; p.F321V; 7:147128714-147128714	skin	malignant_melanoma	Substitution - Missense
c.215G>A; p.G72E; 7:146839717-146839717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3716-6C>G; p.?; 7:148409385-148409385	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3227C>T; p.A1076V; 7:148217504-148217504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3716-6C>G; p.?; 7:148409385-148409385	pancreas	carcinoma	Unknown
c.1165C>T; p.R389W; 7:147132326-147132326	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1165C>T; p.R389W; 7:147132326-147132326	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2850G>T; p.E950D; 7:148172318-148172318	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1165C>T; p.R389W; 7:147132326-147132326	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3395C>T; p.P1132L; 7:148267046-148267046	skin	malignant_melanoma	Substitution - Missense
c.3926C>G; p.A1309G; 7:148415546-148415546	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.328G>T; p.V110L; 7:146839830-146839830	skin	malignant_melanoma	Substitution - Missense
c.899G>T; p.R300L; 7:147121123-147121123	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.497G>A; p.W166*; 7:147044001-147044001	skin	malignant_melanoma	Substitution - Nonsense
c.2588G>A; p.G863E; 7:148147524-148147524	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1648G>C; p.D550H; 7:147395758-147395758	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1378G>A; p.E460K; 7:147300170-147300170	skin	malignant_melanoma	Substitution - Missense
c.1378G>A; p.E460K; 7:147300170-147300170	skin	malignant_melanoma	Substitution - Missense
c.2664G>A; p.E888E; 7:148147600-148147600	skin	malignant_melanoma	Substitution - coding silent
c.2638G>A; p.D880N; 7:148147574-148147574	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.738C>A; p.V246V; 7:147108334-147108334	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1081G>T; p.V361L; 7:147128834-147128834	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3576C>T; p.A1192A; 7:148383749-148383749	skin	malignant_melanoma	Substitution - coding silent
c.2136C>A; p.N712K; 7:147903602-147903602	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1659G>A; p.A553A; 7:147395769-147395769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.801A>G; p.T267T; 7:147121025-147121025	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2136C>A; p.N712K; 7:147903602-147903602	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.466G>A; p.A156T; 7:147043970-147043970	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2136C>A; p.N712K; 7:147903602-147903602	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1343C>T; p.S448F; 7:147132504-147132504	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3622G>A; p.E1208K; 7:148383795-148383795	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3783G>A; p.S1261S; 7:148409458-148409458	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1349-7T>G; p.?; 7:147300134-147300134	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Unknown
c.1124C>A; p.P375H; 7:147132285-147132285	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3350T>C; p.I1117T; 7:148229748-148229748	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2049G>A; p.E683E; 7:147639257-147639257	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.912G>A; p.E304E; 7:147121136-147121136	skin	malignant_melanoma	Substitution - coding silent
c.475G>T; p.V159L; 7:147043979-147043979	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2171G>T; p.G724V; 7:147903637-147903637	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1356G>A; p.G452G; 7:147300148-147300148	skin	malignant_melanoma	Substitution - coding silent
c.546T>C; p.S182S; 7:147044050-147044050	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3981G>A; p.K1327K; 7:148415601-148415601	skin	malignant_melanoma	Substitution - coding silent
c.511C>T; p.R171C; 7:147044015-147044015	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2201G>A; p.R734H; 7:147903667-147903667	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2256G>A; p.W752*; 7:147977862-147977862	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3981G>A; p.K1327K; 7:148415601-148415601	skin	malignant_melanoma	Substitution - coding silent
c.783C>T; p.G261G; 7:147121007-147121007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3066A>G; p.P1022P; 7:148217343-148217343	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3245C>A; p.T1082N; 7:148217522-148217522	breast	carcinoma	Substitution - Missense
c.2337C>T; p.G779G; 7:147977943-147977943	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2956G>A; p.G986S; 7:148172424-148172424	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.1199A>G; p.Q400R; 7:147132360-147132360	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.658G>A; p.E220K; 7:147108254-147108254	skin	malignant_melanoma	Substitution - Missense
c.397A>G; p.I133V; 7:146839899-146839899	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2743C>T; p.R915C; 7:148147679-148147679	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.399C>T; p.I133I; 7:146839901-146839901	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1118C>T; p.T373M; 7:147132279-147132279	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1118C>T; p.T373M; 7:147132279-147132279	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.940-3A>G; p.?; 7:147128690-147128690	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1118C>T; p.T373M; 7:147132279-147132279	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1751G>A; p.G584E; 7:147486015-147486015	skin	malignant_melanoma	Substitution - Missense
c.1118C>T; p.T373M; 7:147132279-147132279	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1765A>C; p.T589P; 7:147486029-147486029	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1765A>C; p.T589P; 7:147486029-147486029	thyroid	other; neoplasm	Substitution - Missense
c.1765A>C; p.T589P; 7:147486029-147486029	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1765A>C; p.T589P; 7:147486029-147486029	thyroid	other; neoplasm	Substitution - Missense
c.1765A>C; p.T589P; 7:147486029-147486029	liver	carcinoma	Substitution - Missense
c.2318G>A; p.G773E; 7:147977924-147977924	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.340C>A; p.R114R; 7:146839842-146839842	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1643G>T; p.S548I; 7:147395753-147395753	liver	carcinoma	Substitution - Missense
c.1757G>A; p.S586N; 7:147486021-147486021	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1643G>T; p.S548I; 7:147395753-147395753	liver	carcinoma	Substitution - Missense
c.1758T>G; p.S586R; 7:147486022-147486022	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1758T>G; p.S586R; 7:147486022-147486022	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1758T>G; p.S586R; 7:147486022-147486022	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1758T>G; p.S586R; 7:147486022-147486022	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1479C>T; p.G493G; 7:147300271-147300271	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1765A>C; p.T589P; 7:147486029-147486029	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1758T>G; p.S586R; 7:147486022-147486022	skin	malignant_melanoma	Substitution - Missense
c.2746C>T; p.L916L; 7:148147682-148147682	liver	carcinoma	Substitution - coding silent
c.340C>A; p.R114R; 7:146839842-146839842	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2401G>A; p.A801T; 7:148118135-148118135	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.232G>A; p.D78N; 7:146839734-146839734	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2492delC; p.W833fs*18; 7:148118226-148118226	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2988T>C; p.Y996Y; 7:148172456-148172456	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2492delC; p.W833fs*18; 7:148118226-148118226	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1128C>T; p.V376V; 7:147132289-147132289	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1465C>T; p.Q489*; 7:147300257-147300257	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Nonsense
c.1465C>T; p.Q489*; 7:147300257-147300257	skin; mucosal	malignant_melanoma	Substitution - Nonsense
c.1465C>T; p.Q489*; 7:147300257-147300257	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense

Mutation summary in protein domains

Top

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

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]