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	9332
Symbol	CD163
Synonymous	M130\|MM130
Full name	CD163 molecule
Gene description	hemoglobin scavenger receptor\|macrophage-associated antigen\|scavenger receptor cysteine-rich type 1 protein M130
Cytoband	12p13.3
Gene type	protein-coding
Synonymous	MIM:605545; HGNC:HGNC:1631; Ensembl:ENSG00000177575; HPRD:05708; Vega:OTTHUMG00000168353

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1799C>T; p.T600M; 12:7487610-7487610	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2006C>T; p.A669V; 12:7487403-7487403	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3264G>T; p.E1088D; 12:7481240-7481240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.756G>A; p.E252E; 12:7498890-7498890	skin	malignant_melanoma	Substitution - coding silent
c.1429G>A; p.E477K; 12:7488079-7488079	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.486G>A; p.T162T; 12:7499160-7499160	skin	malignant_melanoma	Substitution - coding silent
c.3426G>T; p.K1142N; 12:7479914-7479914	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.895G>A; p.D299N; 12:7497017-7497017	skin	malignant_melanoma	Substitution - Missense
c.1693G>A; p.G565R; 12:7487815-7487815	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.895G>C; p.D299H; 12:7497017-7497017	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222G>A; p.T74T; 12:7501374-7501374	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1387G>A; p.D463N; 12:7495114-7495114	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3070G>A; p.A1024T; 12:7483385-7483385	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1469G>A; p.R490H; 12:7488039-7488039	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3118G>A; p.A1040T; 12:7482975-7482975	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.3297G>A; p.M1099I; 12:7481207-7481207	skin	malignant_melanoma	Substitution - Missense
c.2023G>A; p.E675K; 12:7487386-7487386	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3094_3095insATTT; p.S1032fs*43; 12:7482998-7482999	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Insertion - Frameshift
c.251C>G; p.A84G; 12:7501345-7501345	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1685G>A; p.R562H; 12:7487823-7487823	liver	carcinoma	Substitution - Missense
c.1685G>A; p.R562H; 12:7487823-7487823	liver	carcinoma	Substitution - Missense
c.446T>C; p.V149A; 12:7501150-7501150	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1786G>T; p.V596L; 12:7487623-7487623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2075C>T; p.S692L; 12:7486962-7486962	skin	malignant_melanoma	Substitution - Missense
c.2720C>T; p.S907L; 12:7485155-7485155	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2374G>A; p.E792K; 12:7486583-7486583	skin	malignant_melanoma	Substitution - Missense
c.1764C>T; p.G588G; 12:7487645-7487645	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.2374G>A; p.E792K; 12:7486583-7486583	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.461G>A; p.G154E; 12:7499185-7499185	skin	malignant_melanoma	Substitution - Missense
c.2374G>A; p.E792K; 12:7486583-7486583	skin	malignant_melanoma	Substitution - Missense
c.3064G>A; p.E1022K; 12:7483391-7483391	skin	malignant_melanoma	Substitution - Missense
c.443G>A; p.G148E; 12:7501153-7501153	skin	malignant_melanoma	Substitution - Missense
c.1920A>G; p.K640K; 12:7487489-7487489	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1920A>G; p.K640K; 12:7487489-7487489	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2098C>A; p.P700T; 12:7486939-7486939	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1920A>G; p.K640K; 12:7487489-7487489	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3199G>A; p.A1067T; 12:7482691-7482691	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1515G>A; p.S505S; 12:7487993-7487993	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.481C>T; p.L161L; 12:7499165-7499165	skin	malignant_melanoma	Substitution - coding silent
c.1688C>T; p.P563L; 12:7487820-7487820	skin; mucosal	malignant_melanoma	Substitution - Missense
c.345G>A; p.M115I; 12:7501251-7501251	skin	malignant_melanoma	Substitution - Missense
c.3469T>A; p.*1157K; 12:7479871-7479871	skin	malignant_melanoma	Nonstop extension
c.528C>T; p.F176F; 12:7499118-7499118	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.366G>A; p.G122G; 12:7501230-7501230	skin	malignant_melanoma	Substitution - coding silent
c.1266A>G; p.T422T; 12:7495235-7495235	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1035T>C; p.C345C; 12:7496877-7496877	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.971G>A; p.G324E; 12:7496941-7496941	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.183C>T; p.S61S; 12:7501413-7501413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.971G>A; p.G324E; 12:7496941-7496941	skin	malignant_melanoma	Substitution - Missense
c.318C>T; p.S106S; 12:7501278-7501278	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2527delT; p.Y843fs*38; 12:7485348-7485348	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.134-1_134GG>TT; p.?; 12:7501462-7501463	lung	carcinoma; adenocarcinoma	Unknown
c.3055G>A; p.G1019R; 12:7483400-7483400	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6C>T; p.S2S; 12:7503685-7503685	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3169C>G; p.L1057V; 12:7482721-7482721	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.464_465CC>TT; p.S155F; 12:7499181-7499182	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1194T>A; p.C398*; 12:7495307-7495307	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1635C>T; p.F545F; 12:7487873-7487873	skin	malignant_melanoma	Substitution - coding silent
c.1635C>T; p.F545F; 12:7487873-7487873	skin	malignant_melanoma	Substitution - coding silent
c.1776T>C; p.C592C; 12:7487633-7487633	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1828T>C; p.S610P; 12:7487581-7487581	thyroid	carcinoma	Substitution - Missense
c.556G>T; p.D186Y; 12:7499090-7499090	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2920C>T; p.P974S; 12:7483535-7483535	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1617G>A; p.Q539Q; 12:7487891-7487891	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2290G>T; p.E764*; 12:7486667-7486667	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.574C>T; p.H192Y; 12:7499072-7499072	skin	malignant_melanoma	Substitution - Missense
c.2379C>T; p.S793S; 12:7486578-7486578	skin	malignant_melanoma	Substitution - coding silent
c.1714G>A; p.D572N; 12:7487794-7487794	skin	malignant_melanoma	Substitution - Missense
c.1497G>C; p.W499C; 12:7488011-7488011	skin	malignant_melanoma	Substitution - Missense
c.2650A>G; p.M884V; 12:7485225-7485225	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1049G>A; p.W350*; 12:7496863-7496863	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2526T>C; p.F842F; 12:7485349-7485349	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1601G>A; p.G534E; 12:7487907-7487907	skin	malignant_melanoma	Substitution - Missense
c.2853G>T; p.G951G; 12:7483602-7483602	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.311C>A; p.A104D; 12:7501285-7501285	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2376A>T; p.E792D; 12:7486581-7486581	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3039G>A; p.W1013*; 12:7483416-7483416	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2009C>T; p.S670L; 12:7487400-7487400	skin	malignant_melanoma	Substitution - Missense
c.3149C>T; p.S1050F; 12:7482741-7482741	skin	malignant_melanoma	Substitution - Missense
c.1879G>A; p.G627R; 12:7487530-7487530	skin	malignant_melanoma	Substitution - Missense
c.2337G>A; p.G779G; 12:7486620-7486620	skin	malignant_melanoma	Substitution - coding silent
c.3232A>T; p.R1078*; 12:7482658-7482658	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.624C>A; p.F208L; 12:7499022-7499022	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1329C>T; p.N443N; 12:7495172-7495172	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2952T>C; p.F984F; 12:7483503-7483503	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1082C>A; p.A361D; 12:7496830-7496830	liver	carcinoma	Substitution - Missense
c.1082C>A; p.A361D; 12:7496830-7496830	liver	carcinoma	Substitution - Missense
c.1874A>G; p.K625R; 12:7487535-7487535	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3421G>A; p.E1141K; 12:7479919-7479919	skin	malignant_melanoma	Substitution - Missense
c.3421G>A; p.E1141K; 12:7479919-7479919	skin	malignant_melanoma	Substitution - Missense
c.1199_1202delGAGG; p.R400fs*4; 12:7495299-7495302	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.2959_2960GG>TT; p.G987L; 12:7483495-7483496	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2292G>A; p.E764E; 12:7486665-7486665	skin	malignant_melanoma	Substitution - coding silent
c.2941G>A; p.E981K; 12:7483514-7483514	skin	malignant_melanoma	Substitution - Missense
c.3361G>T; p.A1121S; 12:7479979-7479979	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2676T>C; p.N892N; 12:7485199-7485199	pancreas	carcinoma; adenocarcinoma	Substitution - coding silent
c.1456C>T; p.P486S; 12:7488052-7488052	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3247G>A; p.V1083I; 12:7482643-7482643	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2369G>A; p.G790E; 12:7486588-7486588	skin	malignant_melanoma	Substitution - Missense
c.775_776TC>AA; p.S259K; 12:7498870-7498871	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2087C>T; p.S696L; 12:7486950-7486950	skin	malignant_melanoma	Substitution - Missense
c.1549A>G; p.R517G; 12:7487959-7487959	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2087C>T; p.S696L; 12:7486950-7486950	skin	malignant_melanoma	Substitution - Missense
c.2087C>T; p.S696L; 12:7486950-7486950	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2087C>T; p.S696L; 12:7486950-7486950	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1244G>A; p.G415E; 12:7495257-7495257	skin	malignant_melanoma	Substitution - Missense
c.1244G>A; p.G415E; 12:7495257-7495257	skin	malignant_melanoma	Substitution - Missense
c.2343C>A; p.I781I; 12:7486614-7486614	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.752C>T; p.A251V; 12:7498894-7498894	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.689G>A; p.G230E; 12:7498957-7498957	skin	malignant_melanoma	Substitution - Missense
c.1607G>A; p.G536E; 12:7487901-7487901	skin	malignant_melanoma	Substitution - Missense
c.708G>A; p.W236*; 12:7498938-7498938	skin	malignant_melanoma	Substitution - Nonsense
c.2545A>G; p.T849A; 12:7485330-7485330	liver	carcinoma	Substitution - Missense
c.2545A>G; p.T849A; 12:7485330-7485330	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.708G>A; p.W236*; 12:7498938-7498938	skin	malignant_melanoma	Substitution - Nonsense
c.705C>A; p.L235L; 12:7498941-7498941	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1846G>T; p.D616Y; 12:7487563-7487563	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1846G>T; p.D616Y; 12:7487563-7487563	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.705C>A; p.L235L; 12:7498941-7498941	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2036C>T; p.S679F; 12:7487373-7487373	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2358G>A; p.M786I; 12:7486599-7486599	skin	malignant_melanoma	Substitution - Missense
c.3210C>T; p.F1070F; 12:7482680-7482680	skin	malignant_melanoma	Substitution - coding silent
c.2378C>T; p.S793F; 12:7486579-7486579	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.2378C>T; p.S793F; 12:7486579-7486579	skin	malignant_melanoma	Substitution - Missense
c.1539C>T; p.S513S; 12:7487969-7487969	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.522C>T; p.I174I; 12:7499124-7499124	skin	malignant_melanoma	Substitution - coding silent
c.805G>A; p.V269I; 12:7497107-7497107	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1922G>A; p.G641E; 12:7487487-7487487	skin	malignant_melanoma	Substitution - Missense
c.1050G>A; p.W350*; 12:7496862-7496862	skin	malignant_melanoma	Substitution - Nonsense
c.2970G>A; p.P990P; 12:7483485-7483485	skin	malignant_melanoma	Substitution - coding silent
c.1922G>A; p.G641E; 12:7487487-7487487	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1922G>A; p.G641E; 12:7487487-7487487	skin	malignant_melanoma	Substitution - Missense
c.77C>T; p.P26L; 12:7502534-7502534	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.77C>T; p.P26L; 12:7502534-7502534	skin	malignant_melanoma	Substitution - Missense
c.535C>T; p.R179W; 12:7499111-7499111	breast	carcinoma	Substitution - Missense
c.1989T>C; p.P663P; 12:7487420-7487420	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.706T>C; p.W236R; 12:7498940-7498940	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1198A>G; p.R400G; 12:7495303-7495303	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2224A>G; p.T742A; 12:7486733-7486733	thyroid	other; neoplasm	Substitution - Missense
c.553G>A; p.D185N; 12:7499093-7499093	skin	malignant_melanoma	Substitution - Missense
c.3068A>G; p.D1023G; 12:7483387-7483387	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.270C>A; p.N90K; 12:7501326-7501326	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.614C>T; p.A205V; 12:7499032-7499032	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2117C>T; p.P706L; 12:7486920-7486920	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2051G>A; p.G684E; 12:7486986-7486986	skin	malignant_melanoma	Substitution - Missense
c.2544C>A; p.G848G; 12:7485331-7485331	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1530A>G; p.E510E; 12:7487978-7487978	breast	carcinoma	Substitution - coding silent
c.357T>C; p.S119S; 12:7501239-7501239	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2875G>A; p.D959N; 12:7483580-7483580	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1493C>A; p.T498K; 12:7488015-7488015	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1427G>T; p.R476M; 12:7488081-7488081	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1412C>A; p.T471N; 12:7495089-7495089	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3224G>A; p.R1075Q; 12:7482666-7482666	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3224G>A; p.R1075Q; 12:7482666-7482666	skin	malignant_melanoma	Substitution - Missense
c.3224G>A; p.R1075Q; 12:7482666-7482666	skin	malignant_melanoma	Substitution - Missense
c.1309C>T; p.L437L; 12:7495192-7495192	skin	malignant_melanoma	Substitution - coding silent
c.1885G>T; p.A629S; 12:7487524-7487524	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3088+2T>G; p.?; 12:7483365-7483365	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.572A>T; p.D191V; 12:7499074-7499074	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.12C>G; p.L4L; 12:7503679-7503679	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.487C>T; p.R163C; 12:7499159-7499159	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.12C>G; p.L4L; 12:7503679-7503679	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.945C>T; p.A315A; 12:7496967-7496967	ovary	other; neoplasm	Substitution - coding silent
c.2887G>T; p.A963S; 12:7483568-7483568	breast	carcinoma	Substitution - Missense
c.2555A>G; p.K852R; 12:7485320-7485320	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1514C>A; p.S505*; 12:7487994-7487994	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.952C>T; p.R318*; 12:7496960-7496960	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.687C>A; p.N229K; 12:7498959-7498959	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2491A>C; p.S831R; 12:7485384-7485384	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2303C>T; p.A768V; 12:7486654-7486654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.723A>T; p.Q241H; 12:7498923-7498923	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1751G>A; p.R584H; 12:7487658-7487658	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2076G>A; p.S692S; 12:7486961-7486961	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2076G>A; p.S692S; 12:7486961-7486961	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3163G>A; p.G1055R; 12:7482727-7482727	skin	malignant_melanoma	Substitution - Missense
c.3165G>A; p.G1055G; 12:7482725-7482725	skin	malignant_melanoma	Substitution - coding silent
c.3382C>A; p.L1128I; 12:7479958-7479958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2076G>A; p.S692S; 12:7486961-7486961	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3165G>A; p.G1055G; 12:7482725-7482725	skin	malignant_melanoma	Substitution - coding silent
c.929C>T; p.P310L; 12:7496983-7496983	skin	malignant_melanoma	Substitution - Missense
c.1450G>A; p.D484N; 12:7488058-7488058	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2655C>T; p.S885S; 12:7485220-7485220	skin	malignant_melanoma	Substitution - coding silent
c.3400T>A; p.F1134I; 12:7479940-7479940	skin	malignant_melanoma	Substitution - Missense
c.2084C>T; p.S695L; 12:7486953-7486953	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1207G>A; p.G403R; 12:7495294-7495294	skin	malignant_melanoma	Substitution - Missense
c.1916G>A; p.G639E; 12:7487493-7487493	skin	malignant_melanoma	Substitution - Missense
c.1977G>A; p.M659I; 12:7487432-7487432	skin	malignant_melanoma	Substitution - Missense
c.1756G>A; p.V586M; 12:7487653-7487653	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3338C>T; p.S1113F; 12:7481166-7481166	skin	malignant_melanoma	Substitution - Missense
c.1694G>A; p.G565E; 12:7487814-7487814	skin	malignant_melanoma	Substitution - Missense
c.1015G>A; p.E339K; 12:7496897-7496897	skin	malignant_melanoma	Substitution - Missense
c.1694G>A; p.G565E; 12:7487814-7487814	skin	malignant_melanoma	Substitution - Missense
c.3168C>T; p.I1056I; 12:7482722-7482722	skin	malignant_melanoma	Substitution - coding silent
c.1694G>A; p.G565E; 12:7487814-7487814	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.3338C>T; p.S1113F; 12:7481166-7481166	skin	malignant_melanoma	Substitution - Missense
c.472G>C; p.E158Q; 12:7499174-7499174	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2294C>T; p.A765V; 12:7486663-7486663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1347T>C; p.L449L; 12:7495154-7495154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1165G>T; p.E389*; 12:7495336-7495336	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2197G>A; p.E733K; 12:7486760-7486760	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1773G>A; p.P591P; 12:7487636-7487636	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.723A>G; p.Q241Q; 12:7498923-7498923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1629A>C; p.E543D; 12:7487879-7487879	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1099G>A; p.D367N; 12:7496813-7496813	skin	malignant_melanoma	Substitution - Missense
c.3239G>A; p.R1080Q; 12:7482651-7482651	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3239G>A; p.R1080Q; 12:7482651-7482651	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2495G>A; p.R832K; 12:7485380-7485380	skin	malignant_melanoma	Substitution - Missense
c.3063G>A; p.K1021K; 12:7483392-7483392	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1054A>G; p.K352E; 12:7496858-7496858	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1817C>T; p.S606F; 12:7487592-7487592	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1817C>T; p.S606F; 12:7487592-7487592	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2543G>A; p.G848D; 12:7485332-7485332	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2312C>T; p.S771F; 12:7486645-7486645	skin	malignant_melanoma	Substitution - Missense
c.2692G>A; p.G898R; 12:7485183-7485183	skin	malignant_melanoma	Substitution - Missense
c.2692G>A; p.G898R; 12:7485183-7485183	skin	malignant_melanoma	Substitution - Missense
c.2380C>A; p.R794S; 12:7486577-7486577	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3410T>A; p.I1137N; 12:7479930-7479930	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3128-1G>T; p.?; 12:7482763-7482763	lung	carcinoma; adenocarcinoma	Unknown
c.3309G>A; p.L1103L; 12:7481195-7481195	skin	malignant_melanoma	Substitution - coding silent
c.1823G>A; p.C608Y; 12:7487586-7487586	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1399G>A; p.E467K; 12:7495102-7495102	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.12C>T; p.L4L; 12:7503679-7503679	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2116C>T; p.P706S; 12:7486921-7486921	skin	malignant_melanoma	Substitution - Missense
c.3363T>G; p.A1121A; 12:7479977-7479977	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2619G>A; p.G873G; 12:7485256-7485256	skin	malignant_melanoma	Substitution - coding silent
c.298G>A; p.A100T; 12:7501298-7501298	skin	malignant_melanoma	Substitution - Missense
c.3425delA; p.K1142fs*5; 12:7479915-7479915	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2068C>T; p.L690L; 12:7486969-7486969	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1498G>A; p.G500S; 12:7488010-7488010	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3453G>A; p.K1151K; 12:7479887-7479887	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1302C>G; p.N434K; 12:7495199-7495199	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.471G>A; p.L157L; 12:7499175-7499175	skin	malignant_melanoma	Substitution - coding silent
c.3198C>T; p.V1066V; 12:7482692-7482692	central_nervous_system; brain	glioma	Substitution - coding silent
c.3150C>T; p.S1050S; 12:7482740-7482740	skin	malignant_melanoma	Substitution - coding silent
c.1207G>T; p.G403*; 12:7495294-7495294	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2803C>T; p.P935S; 12:7483652-7483652	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1919A>G; p.K640R; 12:7487490-7487490	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2801G>A; p.G934E; 12:7483654-7483654	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.879C>T; p.D293D; 12:7497033-7497033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3223C>T; p.R1075*; 12:7482667-7482667	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1684C>T; p.R562C; 12:7487824-7487824	skin	malignant_melanoma	Substitution - Missense
c.863G>A; p.G288E; 12:7497049-7497049	skin	malignant_melanoma	Substitution - Missense
c.879C>T; p.D293D; 12:7497033-7497033	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3271G>A; p.V1091I; 12:7481233-7481233	skin; neck	malignant_melanoma	Substitution - Missense
c.3251C>T; p.S1084F; 12:7481253-7481253	skin	malignant_melanoma	Substitution - Missense
c.56G>A; p.R19K; 12:7502555-7502555	skin	malignant_melanoma	Substitution - Missense
c.128C>A; p.S43Y; 12:7502483-7502483	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1951C>T; p.H651Y; 12:7487458-7487458	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3196G>A; p.V1066I; 12:7482694-7482694	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2326G>A; p.E776K; 12:7486631-7486631	skin	malignant_melanoma	Substitution - Missense
c.3196G>A; p.V1066I; 12:7482694-7482694	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.128C>A; p.S43Y; 12:7502483-7502483	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1913T>G; p.F638C; 12:7487496-7487496	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.830G>A; p.G277E; 12:7497082-7497082	skin	malignant_melanoma	Substitution - Missense
c.1031A>G; p.Q344R; 12:7496881-7496881	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.748C>T; p.H250Y; 12:7498898-7498898	skin	malignant_melanoma	Substitution - Missense
c.88A>C; p.T30P; 12:7502523-7502523	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2330G>A; p.G777E; 12:7486627-7486627	skin	malignant_melanoma	Substitution - Missense
c.3344-1G>A; p.?; 12:7479997-7479997	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.217G>A; p.G73R; 12:7501379-7501379	skin; neck	malignant_melanoma	Substitution - Missense
c.2122G>A; p.E708K; 12:7486915-7486915	skin	malignant_melanoma	Substitution - Missense
c.3041G>C; p.G1014A; 12:7483414-7483414	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1325G>T; p.C442F; 12:7495176-7495176	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1142G>A; p.R381H; 12:7495359-7495359	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1142G>A; p.R381H; 12:7495359-7495359	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.488G>A; p.R163H; 12:7499158-7499158	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2581G>T; p.G861C; 12:7485294-7485294	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.280T>G; p.C94G; 12:7501316-7501316	skin	malignant_melanoma	Substitution - Missense
c.2743G>A; p.A915T; 12:7485132-7485132	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2287G>A; p.G763R; 12:7486670-7486670	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2088G>A; p.S696S; 12:7486949-7486949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.472G>A; p.E158K; 12:7499174-7499174	skin	malignant_melanoma	Substitution - Missense
c.3412T>A; p.S1138T; 12:7479928-7479928	skin	malignant_melanoma	Substitution - Missense
c.782G>A; p.G261E; 12:7497130-7497130	skin	malignant_melanoma	Substitution - Missense
c.2625C>T; p.I875I; 12:7485250-7485250	skin	malignant_melanoma	Substitution - coding silent
c.2329G>A; p.G777R; 12:7486628-7486628	skin	malignant_melanoma	Substitution - Missense
c.1174A>G; p.R392G; 12:7495327-7495327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1552G>A; p.E518K; 12:7487956-7487956	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1123C>A; p.L375I; 12:7495378-7495378	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2017C>T; p.P673S; 12:7487392-7487392	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1552G>A; p.E518K; 12:7487956-7487956	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.960C>T; p.N320N; 12:7496952-7496952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2034C>T; p.A678A; 12:7487375-7487375	skin	malignant_melanoma	Substitution - coding silent
c.3454G>A; p.E1152K; 12:7479886-7479886	skin	malignant_melanoma	Substitution - Missense
c.1369T>C; p.W457R; 12:7495132-7495132	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2684G>T; p.C895F; 12:7485191-7485191	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1457C>T; p.P486L; 12:7488051-7488051	skin	malignant_melanoma	Substitution - Missense
c.3195C>T; p.F1065F; 12:7482695-7482695	skin	malignant_melanoma	Substitution - coding silent
c.3195C>T; p.F1065F; 12:7482695-7482695	skin	malignant_melanoma	Substitution - coding silent
c.3195C>T; p.F1065F; 12:7482695-7482695	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3343+7G>A; p.?; 12:7481154-7481154	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.3195C>T; p.F1065F; 12:7482695-7482695	skin	malignant_melanoma	Substitution - coding silent
c.3195C>T; p.F1065F; 12:7482695-7482695	skin	malignant_melanoma	Substitution - coding silent
c.2107C>T; p.P703S; 12:7486930-7486930	skin	malignant_melanoma	Substitution - Missense
c.3343+7G>A; p.?; 12:7481154-7481154	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Unknown
c.644G>A; p.G215E; 12:7499002-7499002	skin	malignant_melanoma	Substitution - Missense
c.3034C>T; p.R1012C; 12:7483421-7483421	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.169G>A; p.E57K; 12:7501427-7501427	skin	malignant_melanoma	Substitution - Missense
c.3034C>T; p.R1012C; 12:7483421-7483421	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2500G>A; p.A834T; 12:7485375-7485375	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3333G>A; p.M1111I; 12:7481171-7481171	skin	malignant_melanoma	Substitution - Missense
c.3140G>T; p.R1047L; 12:7482750-7482750	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2839G>T; p.G947*; 12:7483616-7483616	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2708G>A; p.W903*; 12:7485167-7485167	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2708G>A; p.W903*; 12:7485167-7485167	skin	malignant_melanoma	Substitution - Nonsense
c.1510G>A; p.D504N; 12:7487998-7487998	skin	malignant_melanoma	Substitution - Missense
c.1199G>A; p.R400K; 12:7495302-7495302	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.688G>A; p.G230R; 12:7498958-7498958	thyroid	carcinoma	Substitution - Missense
c.3238C>T; p.R1080W; 12:7482652-7482652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2660C>T; p.P887L; 12:7485215-7485215	skin	malignant_melanoma	Substitution - Missense
c.3238C>T; p.R1080W; 12:7482652-7482652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3238C>T; p.R1080W; 12:7482652-7482652	central_nervous_system; brain	glioma	Substitution - Missense
c.3238C>T; p.R1080W; 12:7482652-7482652	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2630C>T; p.P877L; 12:7485245-7485245	skin	malignant_melanoma	Substitution - Missense
c.1361A>G; p.N454S; 12:7495140-7495140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.544A>G; p.T182A; 12:7499102-7499102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2739A>C; p.R913S; 12:7485136-7485136	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.2403C>A; p.H801Q; 12:7486554-7486554	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1981G>A; p.D661N; 12:7487428-7487428	skin	malignant_melanoma	Substitution - Missense
c.1981G>A; p.D661N; 12:7487428-7487428	skin	malignant_melanoma	Substitution - Missense
c.1129G>A; p.G377S; 12:7495372-7495372	skin	malignant_melanoma	Substitution - Missense
c.937G>A; p.V313I; 12:7496975-7496975	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2206C>T; p.H736Y; 12:7486751-7486751	skin	malignant_melanoma	Substitution - Missense
c.349C>T; p.H117Y; 12:7501247-7501247	skin	malignant_melanoma	Substitution - Missense
c.937G>A; p.V313I; 12:7496975-7496975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2206C>T; p.H736Y; 12:7486751-7486751	skin	malignant_melanoma	Substitution - Missense
c.3041G>A; p.G1014D; 12:7483414-7483414	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2811C>T; p.S937S; 12:7483644-7483644	skin	malignant_melanoma	Substitution - coding silent
c.3302C>A; p.S1101Y; 12:7481202-7481202	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1918A>G; p.K640E; 12:7487491-7487491	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.632C>T; p.S211L; 12:7499014-7499014	skin	malignant_melanoma	Substitution - Missense
c.3109C>A; p.P1037T; 12:7482984-7482984	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.327T>A; p.G109G; 12:7501269-7501269	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - coding silent
c.2463C>T; p.F821F; 12:7485412-7485412	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.327T>A; p.G109G; 12:7501269-7501269	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - coding silent
c.2129C>T; p.A710V; 12:7486908-7486908	liver	carcinoma	Substitution - Missense
c.666G>C; p.W222C; 12:7498980-7498980	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2245G>A; p.D749N; 12:7486712-7486712	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245G>A; p.D749N; 12:7486712-7486712	skin	malignant_melanoma	Substitution - Missense
c.2380C>T; p.R794C; 12:7486577-7486577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2245G>A; p.D749N; 12:7486712-7486712	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2245G>A; p.D749N; 12:7486712-7486712	skin; trunk	malignant_melanoma	Substitution - Missense
c.1670G>A; p.C557Y; 12:7487838-7487838	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1095T>C; p.C365C; 12:7496817-7496817	skin	malignant_melanoma	Substitution - coding silent
c.2834G>A; p.W945*; 12:7483621-7483621	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1770C>T; p.T590T; 12:7487639-7487639	skin	malignant_melanoma	Substitution - coding silent
c.1750C>T; p.R584C; 12:7487659-7487659	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1260C>A; p.L420L; 12:7495241-7495241	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1750C>T; p.R584C; 12:7487659-7487659	skin; leg	malignant_melanoma	Substitution - Missense
c.1750C>T; p.R584C; 12:7487659-7487659	skin	malignant_melanoma	Substitution - Missense
c.306A>G; p.G102G; 12:7501290-7501290	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1750C>T; p.R584C; 12:7487659-7487659	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.219A>T; p.G73G; 12:7501377-7501377	skin; neck	malignant_melanoma	Substitution - coding silent
c.833G>A; p.R278K; 12:7497079-7497079	skin	malignant_melanoma	Substitution - Missense
c.2758G>A; p.E920K; 12:7485117-7485117	skin	malignant_melanoma	Substitution - Missense
c.3008C>A; p.S1003Y; 12:7483447-7483447	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2527_2528insT; p.Y843fs*12; 12:7485347-7485348	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1222G>T; p.D408Y; 12:7495279-7495279	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1988C>T; p.P663L; 12:7487421-7487421	skin	malignant_melanoma	Substitution - Missense
c.276G>A; p.L92L; 12:7501320-7501320	skin	malignant_melanoma	Substitution - coding silent
c.509G>A; p.G170E; 12:7499137-7499137	skin	malignant_melanoma	Substitution - Missense
c.2978T>G; p.L993R; 12:7483477-7483477	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2702C>T; p.T901M; 12:7485173-7485173	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2970G>C; p.P990P; 12:7483485-7483485	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2702C>T; p.T901M; 12:7485173-7485173	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2884G>A; p.D962N; 12:7483571-7483571	skin	malignant_melanoma	Substitution - Missense
c.1858C>A; p.L620I; 12:7487551-7487551	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1952A>C; p.H651P; 12:7487457-7487457	skin	malignant_melanoma	Substitution - Missense
c.1330_1331GG>AA; p.G444K; 12:7495170-7495171	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1670G>T; p.C557F; 12:7487838-7487838	prostate	adenoma	Substitution - Missense
c.1915G>A; p.G639R; 12:7487494-7487494	skin	malignant_melanoma	Substitution - Missense
c.1591G>C; p.A531P; 12:7487917-7487917	stomach	adenocarcinoma	Substitution - Missense
c.764G>T; p.G255V; 12:7498882-7498882	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1840A>G; p.I614V; 12:7487569-7487569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3348T>A; p.N1116K; 12:7479992-7479992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1298C>A; p.T433K; 12:7495203-7495203	ovary	other; neoplasm	Substitution - Missense
c.3448G>A; p.E1150K; 12:7479892-7479892	skin	malignant_melanoma	Substitution - Missense
c.2075C>A; p.S692*; 12:7486962-7486962	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.936C>T; p.A312A; 12:7496976-7496976	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3140G>A; p.R1047H; 12:7482750-7482750	liver	carcinoma	Substitution - Missense
c.1736-9T>C; p.?; 12:7487682-7487682	prostate	carcinoma; adenocarcinoma	Unknown
c.1250G>A; p.G417E; 12:7495251-7495251	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3140G>A; p.R1047H; 12:7482750-7482750	liver	carcinoma	Substitution - Missense
c.1148C>T; p.A383V; 12:7495353-7495353	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.936C>T; p.A312A; 12:7496976-7496976	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2075C>A; p.S692*; 12:7486962-7486962	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2618G>A; p.G873E; 12:7485257-7485257	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.608G>T; p.G203V; 12:7499038-7499038	oesophagus	carcinoma	Substitution - Missense
c.2136C>A; p.A712A; 12:7486901-7486901	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2136C>A; p.A712A; 12:7486901-7486901	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1880G>A; p.G627E; 12:7487529-7487529	skin	malignant_melanoma	Substitution - Missense
c.1103G>A; p.G368E; 12:7495398-7495398	skin	malignant_melanoma	Substitution - Missense
c.628_629GG>TC; p.G210>?; 12:7499017-7499018	large_intestine; colon	carcinoma; adenocarcinoma	Complex
c.899C>T; p.A300V; 12:7497013-7497013	thyroid	carcinoma	Substitution - Missense
c.3095C>T; p.S1032L; 12:7482998-7482998	skin	malignant_melanoma	Substitution - Missense
c.1790A>C; p.E597A; 12:7487619-7487619	pancreas	carcinoma	Substitution - Missense
c.1790A>C; p.E597A; 12:7487619-7487619	pancreas	carcinoma	Substitution - Missense
c.3095C>T; p.S1032L; 12:7482998-7482998	skin	malignant_melanoma	Substitution - Missense
c.442G>T; p.G148*; 12:7501154-7501154	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1790A>C; p.E597A; 12:7487619-7487619	pancreas	carcinoma	Substitution - Missense
c.1141C>T; p.R381C; 12:7495360-7495360	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1141C>T; p.R381C; 12:7495360-7495360	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.257C>T; p.S86F; 12:7501339-7501339	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1954T>A; p.C652S; 12:7487455-7487455	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.747T>A; p.D249E; 12:7498899-7498899	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.907G>A; p.A303T; 12:7497005-7497005	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3391G>A; p.V1131M; 12:7479949-7479949	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3302C>T; p.S1101F; 12:7481202-7481202	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2513G>A; p.R838H; 12:7485362-7485362	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2513G>A; p.R838H; 12:7485362-7485362	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1979G>A; p.G660E; 12:7487430-7487430	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1097C>A; p.S366Y; 12:7496815-7496815	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1655C>T; p.S552F; 12:7487853-7487853	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.148G>A; p.E50K; 12:7501448-7501448	skin	malignant_melanoma	Substitution - Missense
c.3262G>T; p.E1088*; 12:7481242-7481242	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3362C>T; p.A1121V; 12:7479978-7479978	skin	malignant_melanoma	Substitution - Missense
c.892T>C; p.Y298H; 12:7497020-7497020	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.495G>A; p.G165G; 12:7499151-7499151	skin	malignant_melanoma	Substitution - coding silent
c.1330G>A; p.G444R; 12:7495171-7495171	skin	malignant_melanoma	Substitution - Missense
c.495G>A; p.G165G; 12:7499151-7499151	skin	malignant_melanoma	Substitution - coding silent
c.684C>A; p.C228*; 12:7498962-7498962	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.816C>T; p.V272V; 12:7497096-7497096	skin	malignant_melanoma	Substitution - coding silent
c.795C>A; p.S265R; 12:7497117-7497117	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1241T>A; p.L414Q; 12:7495260-7495260	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1651G>A; p.E551K; 12:7487857-7487857	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1343C>A; p.S448Y; 12:7495158-7495158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1343C>A; p.S448Y; 12:7495158-7495158	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1131T>G; p.G377G; 12:7495370-7495370	breast	carcinoma	Substitution - coding silent
c.1514C>T; p.S505L; 12:7487994-7487994	thyroid	carcinoma	Substitution - Missense
c.1514C>T; p.S505L; 12:7487994-7487994	skin	malignant_melanoma	Substitution - Missense
c.867A>G; p.T289T; 12:7497045-7497045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3137C>T; p.S1046F; 12:7482753-7482753	skin	malignant_melanoma	Substitution - Missense
c.84C>T; p.T28T; 12:7502527-7502527	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.312T>C; p.A104A; 12:7501284-7501284	stomach	adenocarcinoma	Substitution - coding silent
c.483G>T; p.L161L; 12:7499163-7499163	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1901G>A; p.G634E; 12:7487508-7487508	skin	malignant_melanoma	Substitution - Missense
c.3117_3118insA; p.A1040fs*34; 12:7482975-7482976	pancreas	NS	Insertion - Frameshift
c.2303C>G; p.A768G; 12:7486654-7486654	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1736G>A; p.R579K; 12:7487673-7487673	skin	malignant_melanoma	Substitution - Missense
c.541G>A; p.G181R; 12:7499105-7499105	skin	malignant_melanoma	Substitution - Missense
c.3291G>A; p.R1097R; 12:7481213-7481213	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2723C>T; p.S908F; 12:7485152-7485152	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3291G>A; p.R1097R; 12:7481213-7481213	liver	carcinoma	Substitution - coding silent
c.1969C>G; p.Q657E; 12:7487440-7487440	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1565G>A; p.G522D; 12:7487943-7487943	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2267T>C; p.V756A; 12:7486690-7486690	skin	malignant_melanoma	Substitution - Missense
c.2454C>A; p.C818*; 12:7486503-7486503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation