lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	3482
Symbol	IGF2R
Synonymous	CD222\|CIMPR\|M6P-R\|MPR1\|MPRI
Full name	insulin-like growth factor 2 receptor
Gene description	300 kDa mannose 6-phosphate receptor\|CI Man-6-P receptor\|CI-MPR\|IGF-II receptor\|M6P/IGF2 receptor\|M6P/IGF2R\|M6PR\|MPR 300\|cation-independent mannose-6 phosphate receptor\|cation-independent mannose-6-phosphate receptor\|insulin-like growth factor II receptor
Cytoband	6q26
Gene type	protein-coding
Synonymous	MIM:147280; HGNC:HGNC:5467; HPRD:00928

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2256C>T; p.F752F; 6:160047818-160047818	skin	malignant_melanoma	Substitution - coding silent
c.2128A>G; p.R710G; 6:160047235-160047235	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.891T>C; p.I297I; 6:160032559-160032559	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3282C>T; p.Y1094Y; 6:160061522-160061522	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3220G>A; p.A1074T; 6:160060675-160060675	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6530T>A; p.L2177H; 6:160089978-160089978	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3222G>A; p.A1074A; 6:160060677-160060677	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5862A>G; p.I1954M; 6:160083978-160083978	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3803A>T; p.D1268V; 6:160063547-160063547	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5798A>G; p.Y1933C; 6:160080240-160080240	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5434C>A; p.L1812I; 6:160078318-160078318	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.6384G>A; p.K2128K; 6:160089170-160089170	breast	carcinoma	Substitution - coding silent
c.2669A>G; p.H890R; 6:160050627-160050627	liver	carcinoma	Substitution - Missense
c.587A>G; p.Y196C; 6:160024645-160024645	pancreas	carcinoma; solid_pseudopapillary_carcinoma	Substitution - Missense
c.7068G>A; p.V2356V; 6:160104676-160104676	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.6921C>T; p.G2307G; 6:160102597-160102597	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6921C>T; p.G2307G; 6:160102597-160102597	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7258A>C; p.K2420Q; 6:160104866-160104866	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.822T>C; p.F274F; 6:160029595-160029595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5700C>T; p.G1900G; 6:160080142-160080142	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7030_7032delAGG; p.R2345delR; 6:160103780-160103782	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.6678T>A; p.F2226L; 6:160096461-160096461	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.5768C>T; p.A1923V; 6:160080210-160080210	central_nervous_system; brain	glioma	Substitution - Missense
c.7030_7032delAGG; p.R2345delR; 6:160103780-160103782	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.4186G>T; p.G1396W; 6:160068319-160068319	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5768C>T; p.A1923V; 6:160080210-160080210	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2676C>T; p.V892V; 6:160050634-160050634	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5881G>A; p.E1961K; 6:160083997-160083997	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6762C>T; p.D2254D; 6:160096545-160096545	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3582G>A; p.S1194S; 6:160061928-160061928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3863C>T; p.P1288L; 6:160063607-160063607	skin	malignant_melanoma	Substitution - Missense
c.5685A>G; p.P1895P; 6:160079786-160079786	liver	carcinoma	Substitution - coding silent
c.5685A>G; p.P1895P; 6:160079786-160079786	liver	carcinoma	Substitution - coding silent
c.4504A>G; p.T1502A; 6:160071970-160071970	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5530G>A; p.G1844R; 6:160079631-160079631	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.1479A>C; p.A493A; 6:160040723-160040723	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3054C>A; p.F1018L; 6:160059061-160059061	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5530G>A; p.G1844R; 6:160079631-160079631	prostate	carcinoma	Substitution - Missense
c.629A>T; p.N210I; 6:160024687-160024687	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4500G>A; p.W1500*; 6:160071966-160071966	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1248A>T; p.G416G; 6:160034455-160034455	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5485C>T; p.R1829C; 6:160079586-160079586	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4446C>G; p.N1482K; 6:160071912-160071912	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.7181A>T; p.K2394M; 6:160104789-160104789	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4066C>T; p.R1356*; 6:160064852-160064852	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6370G>A; p.A2124T; 6:160089156-160089156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2496G>A; p.M832I; 6:160048525-160048525	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4066C>T; p.R1356*; 6:160064852-160064852	stomach	adenocarcinoma	Substitution - Nonsense
c.3076C>T; p.P1026S; 6:160059083-160059083	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6370G>A; p.A2124T; 6:160089156-160089156	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4275C>T; p.A1425A; 6:160069890-160069890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5896C>T; p.P1966S; 6:160084012-160084012	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5305G>T; p.G1769C; 6:160075985-160075985	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1545C>T; p.F515F; 6:160043212-160043212	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5288C>T; p.A1763V; 6:160075968-160075968	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5288C>T; p.A1763V; 6:160075968-160075968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3395C>T; p.P1132L; 6:160061635-160061635	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2639G>A; p.G880D; 6:160050597-160050597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5288C>T; p.A1763V; 6:160075968-160075968	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6738C>T; p.F2246F; 6:160096521-160096521	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3096C>T; p.T1032T; 6:160060551-160060551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6738C>T; p.F2246F; 6:160096521-160096521	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.5205A>G; p.P1735P; 6:160075885-160075885	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.271C>G; p.R91G; 6:159991305-159991305	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2345+2T>C; p.?; 6:160047909-160047909	stomach	carcinoma; intestinal_adenocarcinoma	Unknown
c.4079C>T; p.A1360V; 6:160064865-160064865	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3268G>A; p.A1090T; 6:160061508-160061508	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3264C>T; p.D1088D; 6:160061504-160061504	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3673G>T; p.D1225Y; 6:160063417-160063417	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5106C>T; p.H1702H; 6:160073915-160073915	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.996C>T; p.G332G; 6:160032664-160032664	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4533C>T; p.N1511N; 6:160071999-160071999	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.5916G>A; p.V1972V; 6:160084032-160084032	liver	carcinoma	Substitution - coding silent
c.2097A>G; p.S699S; 6:160047204-160047204	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.318A>G; p.R106R; 6:160009038-160009038	parathyroid	carcinoma	Substitution - coding silent
c.5650G>A; p.V1884I; 6:160079751-160079751	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5641G>C; p.E1881Q; 6:160079742-160079742	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5107G>A; p.G1703R; 6:160073916-160073916	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4914_4916delCTC; p.S1639delS; 6:160073436-160073438	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.3488C>T; p.A1163V; 6:160061834-160061834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3974G>A; p.R1325H; 6:160064488-160064488	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3181delG; p.Q1062fs*35; 6:160060636-160060636	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.272G>A; p.R91H; 6:159991306-159991306	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.R91H; 6:159991306-159991306	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.777-6T>C; p.?; 6:160029544-160029544	pancreas	carcinoma	Unknown
c.3622G>A; p.V1208M; 6:160062571-160062571	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5699G>A; p.G1900D; 6:160080141-160080141	skin	malignant_melanoma	Substitution - Missense
c.1606G>A; p.A536T; 6:160043273-160043273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7423A>T; p.T2475S; 6:160105031-160105031	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5961C>T; p.C1987C; 6:160084077-160084077	skin	malignant_melanoma	Substitution - coding silent
c.2213G>A; p.G738D; 6:160047320-160047320	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5131G>A; p.A1711T; 6:160073940-160073940	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5568T>C; p.C1856C; 6:160079669-160079669	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4432G>A; p.E1478K; 6:160070047-160070047	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3309G>C; p.R1103S; 6:160061549-160061549	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4614C>A; p.F1538L; 6:160072808-160072808	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1812T>C; p.G604G; 6:160045791-160045791	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5568T>C; p.C1856C; 6:160079669-160079669	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3382C>T; p.L1128F; 6:160061622-160061622	skin	malignant_melanoma	Substitution - Missense
c.5845C>T; p.R1949W; 6:160083961-160083961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.647-1G>A; p.?; 6:160027184-160027184	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.7436C>T; p.S2479F; 6:160105044-160105044	skin	malignant_melanoma	Substitution - Missense
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2622C>A; p.A874A; 6:160050580-160050580	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5018A>T; p.Y1673F; 6:160073827-160073827	pancreas	carcinoma	Substitution - Missense
c.3942delG; p.D1317fs*27; 6:160064456-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6104G>A; p.G2035E; 6:160085030-160085030	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2040G>A; p.Q680Q; 6:160046634-160046634	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.421C>T; p.P141S; 6:160010693-160010693	skin	malignant_melanoma	Substitution - Missense
c.1209C>T; p.L403L; 6:160033105-160033105	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.6343_6344insA; p.Y2115fs*1; 6:160089129-160089130	NS	malignant_melanoma	Insertion - Frameshift
c.5992C>A; p.Q1998K; 6:160084108-160084108	prostate	adenoma	Substitution - Missense
c.6707A>C; p.K2236T; 6:160096490-160096490	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2780C>T; p.T927M; 6:160056509-160056509	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5917C>T; p.R1973C; 6:160084033-160084033	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4002C>A; p.D1334E; 6:160064516-160064516	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3973C>T; p.R1325C; 6:160064487-160064487	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1422C>T; p.L474L; 6:160040666-160040666	breast	carcinoma	Substitution - coding silent
c.4959C>T; p.S1653S; 6:160073768-160073768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5400G>C; p.R1800S; 6:160078284-160078284	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3507C>T; p.I1169I; 6:160061853-160061853	breast	carcinoma	Substitution - coding silent
c.5400G>C; p.R1800S; 6:160078284-160078284	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2561A>C; p.K854T; 6:160050519-160050519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2718C>G; p.L906L; 6:160056447-160056447	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2840T>G; p.L947R; 6:160058066-160058066	liver	carcinoma	Substitution - Missense
c.6673G>A; p.V2225M; 6:160096456-160096456	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2565C>T; p.T855T; 6:160050523-160050523	skin	malignant_melanoma	Substitution - coding silent
c.4311C>T; p.L1437L; 6:160069926-160069926	skin	malignant_melanoma	Substitution - coding silent
c.6737T>C; p.F2246S; 6:160096520-160096520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5799C>T; p.Y1933Y; 6:160080241-160080241	skin	malignant_melanoma	Substitution - coding silent
c.6756G>A; p.V2252V; 6:160096539-160096539	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2728T>C; p.C910R; 6:160056457-160056457	skin	malignant_melanoma	Substitution - Missense
c.5846G>A; p.R1949Q; 6:160083962-160083962	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4451G>T; p.R1484M; 6:160071917-160071917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2879G>C; p.G960A; 6:160058105-160058105	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3112G>A; p.V1038I; 6:160060567-160060567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1480G>T; p.E494*; 6:160040724-160040724	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4078G>A; p.A1360T; 6:160064864-160064864	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.766C>T; p.R256C; 6:160027304-160027304	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5490C>A; p.D1830E; 6:160079591-160079591	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3650G>T; p.C1217F; 6:160062599-160062599	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6987G>C; p.K2329N; 6:160102663-160102663	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4116-1G>A; p.?; 6:160068248-160068248	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2328G>A; p.E776E; 6:160047890-160047890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2328G>A; p.E776E; 6:160047890-160047890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.6127G>A; p.A2043T; 6:160085053-160085053	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4867A>G; p.R1623G; 6:160073389-160073389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4056G>C; p.L1352F; 6:160064842-160064842	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2937C>T; p.I979I; 6:160058944-160058944	skin	malignant_melanoma	Substitution - coding silent
c.4799C>T; p.S1600F; 6:160073321-160073321	breast	carcinoma	Substitution - Missense
c.3942_3943insG; p.D1317fs*5; 6:160064456-160064457	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.5348G>T; p.C1783F; 6:160078232-160078232	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3942_3943insG; p.D1317fs*5; 6:160064456-160064457	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - Frameshift
c.3518A>G; p.N1173S; 6:160061864-160061864	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4237C>A; p.P1413T; 6:160068370-160068370	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6660C>T; p.G2220G; 6:160096443-160096443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6613C>T; p.R2205W; 6:160090061-160090061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6660C>T; p.G2220G; 6:160096443-160096443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.602C>T; p.S201F; 6:160024660-160024660	skin	malignant_melanoma	Substitution - Missense
c.6613C>T; p.R2205W; 6:160090061-160090061	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3154A>G; p.K1052E; 6:160060609-160060609	skin	malignant_melanoma	Substitution - Missense
c.3484G>A; p.A1162T; 6:160061830-160061830	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2414C>T; p.T805M; 6:160048443-160048443	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6829G>T; p.V2277L; 6:160096612-160096612	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5479G>C; p.V1827L; 6:160079580-160079580	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6106delC; p.L2037fs*32; 6:160085032-160085032	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.7136C>T; p.P2379L; 6:160104744-160104744	skin	malignant_melanoma	Substitution - Missense
c.2347C>G; p.L783V; 6:160048376-160048376	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6878G>C; p.G2293A; 6:160102554-160102554	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1699T>G; p.S567A; 6:160044591-160044591	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.709G>T; p.V237L; 6:160027247-160027247	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3778C>T; p.R1260W; 6:160063522-160063522	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5053G>A; p.D1685N; 6:160073862-160073862	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3778C>T; p.R1260W; 6:160063522-160063522	breast	carcinoma	Substitution - Missense
c.3778C>T; p.R1260W; 6:160063522-160063522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5709T>C; p.C1903C; 6:160080151-160080151	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1692C>T; p.L564L; 6:160044584-160044584	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2473C>T; p.R825*; 6:160048502-160048502	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3370G>A; p.V1124I; 6:160061610-160061610	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5006G>A; p.R1669H; 6:160073815-160073815	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5006G>A; p.R1669H; 6:160073815-160073815	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2858C>T; p.S953L; 6:160058084-160058084	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.4471G>A; p.V1491M; 6:160071937-160071937	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4471G>A; p.V1491M; 6:160071937-160071937	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4471G>A; p.V1491M; 6:160071937-160071937	large_intestine; colon	carcinoma	Substitution - Missense
c.4471G>A; p.V1491M; 6:160071937-160071937	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5811C>T; p.H1937H; 6:160080253-160080253	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2858C>T; p.S953L; 6:160058084-160058084	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1929C>T; p.L643L; 6:160046523-160046523	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.887C>T; p.T296I; 6:160032555-160032555	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5595C>T; p.S1865S; 6:160079696-160079696	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4276G>A; p.A1426T; 6:160069891-160069891	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1162G>A; p.D388N; 6:160033058-160033058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3883G>A; p.A1295T; 6:160063627-160063627	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2899-1G>T; p.?; 6:160058905-160058905	lung	carcinoma; small_cell_carcinoma	Unknown
c.1910C>A; p.S637Y; 6:160046504-160046504	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2773C>G; p.Q925E; 6:160056502-160056502	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4161C>A; p.Y1387*; 6:160068294-160068294	ovary	other; neoplasm	Substitution - Nonsense
c.2982A>C; p.E994D; 6:160058989-160058989	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3194G>A; p.R1065Q; 6:160060649-160060649	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1480+1G>T; p.?; 6:160040725-160040725	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.5287G>A; p.A1763T; 6:160075967-160075967	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2805T>C; p.S935S; 6:160058031-160058031	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5287G>A; p.A1763T; 6:160075967-160075967	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1211+2T>C; p.?; 6:160033109-160033109	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.5287G>A; p.A1763T; 6:160075967-160075967	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4199C>T; p.P1400L; 6:160068332-160068332	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.485A>G; p.K162R; 6:160010757-160010757	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.3783C>A; p.V1261V; 6:160063527-160063527	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6918C>T; p.V2306V; 6:160102594-160102594	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1310C>T; p.T437I; 6:160034517-160034517	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.401G>T; p.C134F; 6:160009121-160009121	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.401G>T; p.C134F; 6:160009121-160009121	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.3769T>C; p.Y1257H; 6:160063513-160063513	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3739G>A; p.D1247N; 6:160063483-160063483	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5506G>A; p.V1836I; 6:160079607-160079607	central_nervous_system; thalamus	glioma; astrocytoma_Grade_III	Substitution - Missense
c.6262G>A; p.A2088T; 6:160088089-160088089	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1728G>T; p.K576N; 6:160044620-160044620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5744A>G; p.E1915G; 6:160080186-160080186	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.6210C>G; p.D2070E; 6:160088037-160088037	breast	carcinoma	Substitution - Missense
c.6262G>A; p.A2088T; 6:160088089-160088089	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6262G>A; p.A2088T; 6:160088089-160088089	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1021C>A; p.L341I; 6:160032689-160032689	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1562G>T; p.R521I; 6:160043229-160043229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.586T>C; p.Y196H; 6:160024644-160024644	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1562G>T; p.R521I; 6:160043229-160043229	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1150G>A; p.V384M; 6:160033046-160033046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2151T>C; p.N717N; 6:160047258-160047258	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1321G>T; p.D441Y; 6:160040565-160040565	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2219C>G; p.P740R; 6:160047326-160047326	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1809C>T; p.G603G; 6:160045788-160045788	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2244C>T; p.S748S; 6:160047806-160047806	skin	malignant_melanoma	Substitution - coding silent
c.1533G>A; p.K511K; 6:160043200-160043200	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2965G>T; p.A989S; 6:160058972-160058972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7269G>T; p.S2423S; 6:160104877-160104877	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5268C>T; p.F1756F; 6:160075948-160075948	breast	carcinoma	Substitution - coding silent
c.609G>A; p.P203P; 6:160024667-160024667	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1590G>A; p.G530G; 6:160043257-160043257	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2905G>A; p.V969I; 6:160058912-160058912	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2557G>A; p.A853T; 6:160050515-160050515	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5380G>A; p.V1794I; 6:160078264-160078264	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5380G>A; p.V1794I; 6:160078264-160078264	prostate	carcinoma	Substitution - Missense
c.6112G>A; p.G2038S; 6:160085038-160085038	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1955T>C; p.V652A; 6:160046549-160046549	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2570C>T; p.P857L; 6:160050528-160050528	liver	carcinoma	Substitution - Missense
c.5380G>A; p.V1794I; 6:160078264-160078264	pancreas	carcinoma	Substitution - Missense
c.6092A>T; p.K2031I; 6:160085018-160085018	kidney	other; neoplasm	Substitution - Missense
c.560A>G; p.N187S; 6:160024618-160024618	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.3957C>T; p.C1319C; 6:160064471-160064471	skin	malignant_melanoma	Substitution - coding silent
c.3886+2T>G; p.?; 6:160063632-160063632	prostate	carcinoma; adenocarcinoma	Unknown
c.2635G>A; p.D879N; 6:160050593-160050593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.421C>A; p.P141T; 6:160010693-160010693	urinary_tract; bladder	carcinoma	Substitution - Missense
c.556C>T; p.L186F; 6:160024614-160024614	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5034G>A; p.E1678E; 6:160073843-160073843	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2270G>A; p.S757N; 6:160047832-160047832	liver	carcinoma	Substitution - Missense
c.5204C>T; p.P1735L; 6:160075884-160075884	skin	malignant_melanoma	Substitution - Missense
c.5646G>A; p.A1882A; 6:160079747-160079747	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.365C>G; p.T122R; 6:160009085-160009085	breast	carcinoma	Substitution - Missense
c.3561G>T; p.T1187T; 6:160061907-160061907	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2748G>A; p.W916*; 6:160056477-160056477	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1025C>T; p.T342I; 6:160032693-160032693	ovary	other; neoplasm	Substitution - Missense
c.1025C>T; p.T342I; 6:160032693-160032693	ovary	other; neoplasm	Substitution - Missense
c.1025C>T; p.T342I; 6:160032693-160032693	ovary	other; neoplasm	Substitution - Missense
c.1025C>T; p.T342I; 6:160032693-160032693	ovary	other; neoplasm	Substitution - Missense
c.3581C>T; p.S1194L; 6:160061927-160061927	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1664C>T; p.P555L; 6:160044556-160044556	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.259G>A; p.D87N; 6:159991293-159991293	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6915A>G; p.A2305A; 6:160102591-160102591	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.5505C>T; p.S1835S; 6:160079606-160079606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6160G>A; p.V2054I; 6:160085086-160085086	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1757G>T; p.C586F; 6:160044649-160044649	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.6454G>T; p.D2152Y; 6:160089240-160089240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.350G>C; p.C117S; 6:160009070-160009070	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.249T>G; p.V83V; 6:159991283-159991283	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1393G>A; p.A465T; 6:160040637-160040637	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1050A>G; p.S350S; 6:160032946-160032946	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2784G>A; p.T928T; 6:160056513-160056513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1050A>G; p.S350S; 6:160032946-160032946	thyroid	other; neoplasm	Substitution - coding silent
c.5387C>A; p.P1796H; 6:160078271-160078271	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5495G>A; p.R1832H; 6:160079596-160079596	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7268C>T; p.S2423L; 6:160104876-160104876	pancreas	carcinoma	Substitution - Missense
c.2335G>A; p.D779N; 6:160047897-160047897	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1355T>C; p.V452A; 6:160040599-160040599	skin	malignant_melanoma	Substitution - Missense
c.7268C>T; p.S2423L; 6:160104876-160104876	pancreas	carcinoma	Substitution - Missense
c.3412G>A; p.A1138T; 6:160061758-160061758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.842C>T; p.A281V; 6:160029615-160029615	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.842C>T; p.A281V; 6:160029615-160029615	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1355T>C; p.V452A; 6:160040599-160040599	skin	malignant_melanoma	Substitution - Missense
c.2335G>A; p.D779N; 6:160047897-160047897	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.6458_6459delTT; p.Y2154fs*2; 6:160089244-160089245	breast	carcinoma	Deletion - Frameshift
c.842C>T; p.A281V; 6:160029615-160029615	breast	carcinoma	Substitution - Missense
c.4654A>G; p.I1552V; 6:160072848-160072848	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7394G>C; p.S2465T; 6:160105002-160105002	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2845C>T; p.P949S; 6:160058071-160058071	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.7075G>A; p.E2359K; 6:160104683-160104683	liver	carcinoma	Substitution - Missense
c.7075G>A; p.E2359K; 6:160104683-160104683	liver	carcinoma	Substitution - Missense
c.4067G>A; p.R1356Q; 6:160064853-160064853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2437G>A; p.V813M; 6:160048466-160048466	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4067G>A; p.R1356Q; 6:160064853-160064853	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5845C>G; p.R1949G; 6:160083961-160083961	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4994C>T; p.P1665L; 6:160073803-160073803	skin	malignant_melanoma	Substitution - Missense
c.5466G>A; p.T1822T; 6:160078350-160078350	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1597G>A; p.E533K; 6:160043264-160043264	thyroid	carcinoma	Substitution - Missense
c.6488A>T; p.D2163V; 6:160089936-160089936	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5367G>C; p.W1789C; 6:160078251-160078251	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7446C>G; p.D2482E; 6:160105054-160105054	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.5942G>A; p.W1981*; 6:160084058-160084058	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Nonsense
c.6902A>G; p.E2301G; 6:160102578-160102578	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4750G>A; p.V1584M; 6:160073272-160073272	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7330C>T; p.Q2444*; 6:160104938-160104938	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4608G>A; p.A1536A; 6:160072802-160072802	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.7330C>T; p.Q2444*; 6:160104938-160104938	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.767G>A; p.R256H; 6:160027305-160027305	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6403G>T; p.V2135L; 6:160089189-160089189	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4631A>G; p.E1544G; 6:160072825-160072825	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5853C>T; p.S1951S; 6:160083969-160083969	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.6822C>T; p.T2274T; 6:160096605-160096605	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3760G>A; p.E1254K; 6:160063504-160063504	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.875G>A; p.R292Q; 6:160029648-160029648	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4907_4909delTCT; p.F1638delF; 6:160073429-160073431	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.4868G>A; p.R1623K; 6:160073390-160073390	breast	carcinoma	Substitution - Missense
c.6244T>C; p.C2082R; 6:160088071-160088071	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.6244T>C; p.C2082R; 6:160088071-160088071	stomach	adenocarcinoma	Substitution - Missense
c.4327G>A; p.G1443R; 6:160069942-160069942	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5321C>T; p.T1774M; 6:160078205-160078205	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6363_6364CC>TT; p.R2122W; 6:160089149-160089150	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5932A>G; p.T1978A; 6:160084048-160084048	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1944T>C; p.G648G; 6:160046538-160046538	pancreas	carcinoma	Substitution - coding silent
c.3141C>A; p.Y1047*; 6:160060596-160060596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7181A>C; p.K2394T; 6:160104789-160104789	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5018A>G; p.Y1673C; 6:160073827-160073827	liver	carcinoma	Substitution - Missense
c.4836C>T; p.F1612F; 6:160073358-160073358	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5793G>A; p.A1931A; 6:160080235-160080235	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4627A>T; p.S1543C; 6:160072821-160072821	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4954T>G; p.C1652G; 6:160073763-160073763	skin	malignant_melanoma	Substitution - Missense
c.5793G>A; p.A1931A; 6:160080235-160080235	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2953T>G; p.S985A; 6:160058960-160058960	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5602C>T; p.R1868W; 6:160079703-160079703	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.7253A>G; p.E2418G; 6:160104861-160104861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2265C>A; p.Y755*; 6:160047827-160047827	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5602C>T; p.R1868W; 6:160079703-160079703	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.953G>C; p.C318S; 6:160032621-160032621	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6467+5G>A; p.?; 6:160089258-160089258	skin; leg	malignant_melanoma; nodular	Unknown
c.5845C>A; p.R1949R; 6:160083961-160083961	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5845C>A; p.R1949R; 6:160083961-160083961	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1280T>C; p.M427T; 6:160034487-160034487	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.6560C>T; p.A2187V; 6:160090008-160090008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6560C>T; p.A2187V; 6:160090008-160090008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3654C>G; p.P1218P; 6:160062603-160062603	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4145C>T; p.S1382L; 6:160068278-160068278	skin; mucosal	malignant_melanoma	Substitution - Missense
c.988C>A; p.L330M; 6:160032656-160032656	liver	carcinoma	Substitution - Missense
c.7369G>T; p.E2457*; 6:160104977-160104977	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.988C>A; p.L330M; 6:160032656-160032656	liver	carcinoma	Substitution - Missense
c.3153C>G; p.L1051L; 6:160060608-160060608	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4200G>A; p.P1400P; 6:160068333-160068333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1969T>G; p.Y657D; 6:160046563-160046563	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.619C>G; p.L207V; 6:160024677-160024677	breast	carcinoma	Substitution - Missense
c.5859C>A; p.I1953I; 6:160083975-160083975	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.5344G>A; p.E1782K; 6:160078228-160078228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5609A>C; p.Q1870P; 6:160079710-160079710	thyroid	other; neoplasm	Substitution - Missense
c.6318G>T; p.K2106N; 6:160088145-160088145	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3670+2T>C; p.?; 6:160062621-160062621	prostate	adenoma	Unknown
c.6266C>T; p.S2089F; 6:160088093-160088093	skin	malignant_melanoma	Substitution - Missense
c.1968G>C; p.K656N; 6:160046562-160046562	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1878C>G; p.N626K; 6:160045857-160045857	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5317G>A; p.G1773R; 6:160078201-160078201	skin; trunk	malignant_melanoma	Substitution - Missense
c.676C>T; p.R226W; 6:160027214-160027214	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5846G>T; p.R1949L; 6:160083962-160083962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5846G>T; p.R1949L; 6:160083962-160083962	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.5467A>G; p.S1823G; 6:160078351-160078351	pancreas	carcinoma	Substitution - Missense
c.676C>T; p.R226W; 6:160027214-160027214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5005C>T; p.R1669C; 6:160073814-160073814	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6224C>T; p.T2075M; 6:160088051-160088051	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4112T>G; p.F1371C; 6:160064898-160064898	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.763G>A; p.V255M; 6:160027301-160027301	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1426G>A; p.G476S; 6:160040670-160040670	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2310C>T; p.T770T; 6:160047872-160047872	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.646G>T; p.D216Y; 6:160024704-160024704	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.7221G>T; p.Q2407H; 6:160104829-160104829	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4677C>T; p.C1559C; 6:160072871-160072871	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6441C>G; p.S2147R; 6:160089227-160089227	skin	malignant_melanoma	Substitution - Missense
c.508A>C; p.K170Q; 6:160010780-160010780	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1026A>C; p.T342T; 6:160032694-160032694	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.413T>G; p.L138R; 6:160009133-160009133	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.7372A>T; p.K2458*; 6:160104980-160104980	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2993A>T; p.N998I; 6:160059000-160059000	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.7193C>T; p.A2398V; 6:160104801-160104801	skin	malignant_melanoma	Substitution - Missense
c.2212G>T; p.G738C; 6:160047319-160047319	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.7193C>T; p.A2398V; 6:160104801-160104801	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3950A>G; p.D1317G; 6:160064464-160064464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.5529C>T; p.V1843V; 6:160079630-160079630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3941_3942insG; p.D1317fs*5; 6:160064455-160064456	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2703_2704delCC; p.P902fs*44; 6:160056432-160056433	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.4125T>C; p.A1375A; 6:160068258-160068258	breast	carcinoma	Substitution - coding silent
c.4753G>A; p.D1585N; 6:160073275-160073275	skin	malignant_melanoma	Substitution - Missense
c.5833+2T>C; p.?; 6:160080277-160080277	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.235C>T; p.P79S; 6:159991269-159991269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.235C>T; p.P79S; 6:159991269-159991269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2204C>T; p.A735V; 6:160047311-160047311	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.699C>T; p.A233A; 6:160027237-160027237	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.5070C>G; p.F1690L; 6:160073879-160073879	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1138G>T; p.A380S; 6:160033034-160033034	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4189A>C; p.T1397P; 6:160068322-160068322	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5918G>A; p.R1973H; 6:160084034-160084034	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.5070C>G; p.F1690L; 6:160073879-160073879	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5544A>G; p.G1848G; 6:160079645-160079645	breast	carcinoma	Substitution - coding silent
c.4687G>C; p.V1563L; 6:160072881-160072881	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2138C>T; p.T713I; 6:160047245-160047245	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6728C>T; p.T2243I; 6:160096511-160096511	skin	malignant_melanoma	Substitution - Missense
c.7194C>T; p.A2398A; 6:160104802-160104802	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2598T>C; p.L866L; 6:160050556-160050556	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.6736T>C; p.F2246L; 6:160096519-160096519	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5727C>A; p.F1909L; 6:160080169-160080169	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2633G>A; p.S878N; 6:160050591-160050591	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6736T>C; p.F2246L; 6:160096519-160096519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1736A>C; p.K579T; 6:160044628-160044628	skin	malignant_melanoma	Substitution - Missense
c.3489G>A; p.A1163A; 6:160061835-160061835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5782A>T; p.S1928C; 6:160080224-160080224	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.4358T>A; p.L1453Q; 6:160069973-160069973	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5341A>T; p.S1781C; 6:160078225-160078225	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7405C>T; p.Q2469*; 6:160105013-160105013	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2412C>T; p.V804V; 6:160048441-160048441	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4841G>A; p.C1614Y; 6:160073363-160073363	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4375G>A; p.D1459N; 6:160069990-160069990	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6424C>T; p.P2142S; 6:160089210-160089210	skin	malignant_melanoma	Substitution - Missense
c.296C>G; p.S99C; 6:160009016-160009016	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4431C>T; p.S1477S; 6:160070046-160070046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1758C>T; p.C586C; 6:160044650-160044650	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4947G>A; p.A1649A; 6:160073469-160073469	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2697C>T; p.N899N; 6:160056426-160056426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4751T>C; p.V1584A; 6:160073273-160073273	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5818G>A; p.G1940S; 6:160080260-160080260	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4420T>C; p.F1474L; 6:160070035-160070035	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4420T>C; p.F1474L; 6:160070035-160070035	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.490G>T; p.D164Y; 6:160010762-160010762	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7032G>A; p.R2344R; 6:160103782-160103782	prostate	adenoma	Substitution - coding silent
c.4849G>T; p.E1617*; 6:160073371-160073371	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6399G>T; p.Q2133H; 6:160089185-160089185	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5662G>A; p.V1888M; 6:160079763-160079763	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1161C>T; p.S387S; 6:160033057-160033057	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5014G>A; p.G1672S; 6:160073823-160073823	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5493G>A; p.S1831S; 6:160079594-160079594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation