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	2904
Symbol	GRIN2B
Synonymous	EIEE27\|GluN2B\|MRD6\|NMDAR2B\|NR2B\|hNR3
Full name	glutamate receptor, ionotropic, N-methyl D-aspartate 2B
Gene description	N-methyl D-aspartate receptor subtype 2B\|N-methyl-D-aspartate receptor subunit 3\|NR3\|glutamate [NMDA] receptor subunit epsilon-2\|glutamate receptor ionotropic, NMDA 2B\|glutamate receptor subunit epsilon-2
Cytoband	12p12
Gene type	protein-coding
Synonymous	MIM:138252; HGNC:HGNC:4586; Ensembl:ENSG00000273079; HPRD:00697; Vega:OTTHUMG00000137373

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1264G>A; p.V422M; 12:13616519-13616519	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1516G>T; p.A506S; 12:13615252-13615252	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3814G>T; p.V1272L; 12:13563424-13563424	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3411C>T; p.F1137F; 12:13563827-13563827	skin	malignant_melanoma	Substitution - coding silent
c.3924G>A; p.V1308V; 12:13563314-13563314	skin	malignant_melanoma	Substitution - coding silent
c.333C>T; p.I111I; 12:13865876-13865876	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.3411C>T; p.F1137F; 12:13563827-13563827	skin	malignant_melanoma	Substitution - coding silent
c.3981delG; p.G1328fs*121; 12:13563257-13563257	lung	carcinoma; non_small_cell_carcinoma	Deletion - Frameshift
c.1714G>A; p.V572M; 12:13611791-13611791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4370C>T; p.P1457L; 12:13562868-13562868	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3044C>G; p.S1015C; 12:13564194-13564194	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2287G>A; p.G763S; 12:13569902-13569902	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1827C>T; p.L609L; 12:13608786-13608786	skin	malignant_melanoma	Substitution - coding silent
c.2526C>T; p.F842F; 12:13567097-13567097	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2104A>G; p.M702V; 12:13571871-13571871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2282G>T; p.G761V; 12:13569907-13569907	breast	carcinoma	Substitution - Missense
c.4174G>A; p.G1392R; 12:13563064-13563064	skin	malignant_melanoma	Substitution - Missense
c.3336A>G; p.R1112R; 12:13563902-13563902	pancreas	carcinoma	Substitution - coding silent
c.514G>A; p.V172I; 12:13753813-13753813	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2099C>T; p.A700V; 12:13571876-13571876	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2631C>T; p.I877I; 12:13564607-13564607	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3562G>A; p.G1188S; 12:13563676-13563676	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.514G>A; p.V172I; 12:13753813-13753813	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.514G>A; p.V172I; 12:13753813-13753813	ovary	other; neoplasm	Substitution - Missense
c.865C>T; p.L289F; 12:13753462-13753462	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3412C>T; p.R1138*; 12:13563826-13563826	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2553G>T; p.M851I; 12:13567070-13567070	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1293G>T; p.R431S; 12:13616490-13616490	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1248T>C; p.F416F; 12:13616535-13616535	liver	carcinoma	Substitution - coding silent
c.2177T>G; p.L726R; 12:13570012-13570012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2177T>G; p.L726R; 12:13570012-13570012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2177T>G; p.L726R; 12:13570012-13570012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4164C>T; p.I1388I; 12:13563074-13563074	skin	malignant_melanoma	Substitution - coding silent
c.3294C>T; p.S1098S; 12:13563944-13563944	skin	malignant_melanoma	Substitution - coding silent
c.604G>C; p.V202L; 12:13753723-13753723	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3157G>A; p.D1053N; 12:13564081-13564081	skin; trunk	malignant_melanoma	Substitution - Missense
c.3504C>T; p.S1168S; 12:13563734-13563734	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1556G>A; p.R519Q; 12:13615212-13615212	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3021delC; p.D1007fs*49; 12:13564217-13564217	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.771C>T; p.I257I; 12:13753556-13753556	skin; neck	malignant_melanoma	Substitution - coding silent
c.1556G>A; p.R519Q; 12:13615212-13615212	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1556G>A; p.R519Q; 12:13615212-13615212	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.771C>T; p.I257I; 12:13753556-13753556	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.509C>A; p.S170Y; 12:13753818-13753818	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1606G>A; p.V536I; 12:13615162-13615162	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.771C>T; p.I257I; 12:13753556-13753556	skin	malignant_melanoma	Substitution - coding silent
c.2908T>C; p.F970L; 12:13564330-13564330	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1158G>A; p.M386I; 12:13616625-13616625	thyroid	carcinoma	Substitution - Missense
c.792G>T; p.G264G; 12:13753535-13753535	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2052G>A; p.G684G; 12:13571923-13571923	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.275G>A; p.R92Q; 12:13865934-13865934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2825C>A; p.T942K; 12:13564413-13564413	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1120G>A; p.E374K; 12:13675750-13675750	skin	malignant_melanoma	Substitution - Missense
c.3212G>A; p.G1071E; 12:13564026-13564026	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4008C>T; p.Y1336Y; 12:13563230-13563230	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.870C>T; p.P290P; 12:13753457-13753457	thyroid	other; neoplasm	Substitution - coding silent
c.3702G>C; p.S1234S; 12:13563536-13563536	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3702G>C; p.S1234S; 12:13563536-13563536	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.1342G>A; p.E448K; 12:13615651-13615651	skin; extremity	malignant_melanoma	Substitution - Missense
c.1342G>A; p.E448K; 12:13615651-13615651	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2660C>A; p.P887H; 12:13564578-13564578	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3356A>G; p.H1119R; 12:13563882-13563882	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1852G>A; p.V618I; 12:13608761-13608761	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3356A>G; p.H1119R; 12:13563882-13563882	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3356A>G; p.H1119R; 12:13563882-13563882	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3493G>A; p.D1165N; 12:13563745-13563745	skin	malignant_melanoma	Substitution - Missense
c.976G>A; p.E326K; 12:13753351-13753351	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4249G>A; p.A1417T; 12:13562989-13562989	skin	malignant_melanoma	Substitution - Missense
c.4384C>T; p.P1462S; 12:13562854-13562854	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1116G>A; p.K372K; 12:13675754-13675754	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2627C>T; p.A876V; 12:13564611-13564611	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.455A>C; p.Q152P; 12:13753872-13753872	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.14C>T; p.A5V; 12:13866195-13866195	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2287G>T; p.G763C; 12:13569902-13569902	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1316G>A; p.R439H; 12:13616467-13616467	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1948T>C; p.L650L; 12:13608665-13608665	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.905C>A; p.T302N; 12:13753422-13753422	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.219G>T; p.M73I; 12:13865990-13865990	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1146G>T; p.K382N; 12:13616637-13616637	breast	carcinoma	Substitution - Missense
c.136G>A; p.D46N; 12:13866073-13866073	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1110G>C; p.E370D; 12:13675760-13675760	ovary	other; neoplasm	Substitution - Missense
c.1636T>A; p.S546T; 12:13615132-13615132	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2669C>T; p.T890I; 12:13564569-13564569	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.555G>A; p.K185K; 12:13753772-13753772	oesophagus	carcinoma	Substitution - coding silent
c.2415G>A; p.K805K; 12:13567208-13567208	skin	malignant_melanoma	Substitution - coding silent
c.387C>T; p.G129G; 12:13865822-13865822	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3827C>T; p.A1276V; 12:13563411-13563411	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3396C>T; p.F1132F; 12:13563842-13563842	skin	malignant_melanoma	Substitution - coding silent
c.4395C>A; p.F1465L; 12:13562843-13562843	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1934G>A; p.S645N; 12:13608679-13608679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4438_4439delAT; p.I1480fs*1; 12:13562799-13562800	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.369C>T; p.I123I; 12:13865840-13865840	skin	malignant_melanoma	Substitution - coding silent
c.3077G>A; p.G1026D; 12:13564161-13564161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.50C>T; p.A17V; 12:13866159-13866159	skin	malignant_melanoma	Substitution - Missense
c.2466C>G; p.F822L; 12:13567157-13567157	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2822T>C; p.F941S; 12:13564416-13564416	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.713C>T; p.T238I; 12:13753614-13753614	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3315C>G; p.I1105M; 12:13563923-13563923	skin	malignant_melanoma	Substitution - Missense
c.98C>T; p.P33L; 12:13866111-13866111	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.634G>A; p.G212R; 12:13753693-13753693	thyroid	carcinoma	Substitution - Missense
c.359T>A; p.L120H; 12:13865850-13865850	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1712C>T; p.A571V; 12:13611793-13611793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.578G>A; p.S193N; 12:13753749-13753749	skin	malignant_melanoma	Substitution - Missense
c.1712C>T; p.A571V; 12:13611793-13611793	skin	malignant_melanoma	Substitution - Missense
c.2859C>A; p.P953P; 12:13564379-13564379	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2782G>A; p.E928K; 12:13564456-13564456	skin	malignant_melanoma	Substitution - Missense
c.747G>A; p.L249L; 12:13753580-13753580	breast	carcinoma	Substitution - coding silent
c.2782G>A; p.E928K; 12:13564456-13564456	skin	malignant_melanoma	Substitution - Missense
c.1436A>G; p.Y479C; 12:13615557-13615557	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1584C>T; p.P528P; 12:13615184-13615184	liver	carcinoma	Substitution - coding silent
c.3813G>A; p.A1271A; 12:13563425-13563425	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4127C>T; p.S1376L; 12:13563111-13563111	skin	malignant_melanoma	Substitution - Missense
c.2657C>T; p.S886F; 12:13564581-13564581	skin	malignant_melanoma	Substitution - Missense
c.829C>T; p.L277F; 12:13753498-13753498	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1327G>A; p.E443K; 12:13616456-13616456	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3574G>T; p.G1192W; 12:13563664-13563664	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3819G>A; p.T1273T; 12:13563419-13563419	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.896T>A; p.I299K; 12:13753431-13753431	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1327G>A; p.E443K; 12:13616456-13616456	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.829C>T; p.L277F; 12:13753498-13753498	skin	malignant_melanoma	Substitution - Missense
c.829C>T; p.L277F; 12:13753498-13753498	skin	malignant_melanoma	Substitution - Missense
c.1045T>G; p.L349V; 12:13675825-13675825	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3797C>T; p.P1266L; 12:13563441-13563441	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3564C>T; p.G1188G; 12:13563674-13563674	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3371G>A; p.R1124K; 12:13563867-13563867	central_nervous_system; brain	glioma	Substitution - Missense
c.4421A>G; p.Y1474C; 12:13562817-13562817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2060C>A; p.P687H; 12:13571915-13571915	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3985C>T; p.R1329*; 12:13563253-13563253	central_nervous_system; brain	glioma	Substitution - Nonsense
c.2309C>T; p.S770F; 12:13569880-13569880	breast	carcinoma	Substitution - Missense
c.2694C>T; p.I898I; 12:13564544-13564544	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3316G>A; p.E1106K; 12:13563922-13563922	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3316G>A; p.E1106K; 12:13563922-13563922	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.793G>A; p.D265N; 12:13753534-13753534	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.793G>A; p.D265N; 12:13753534-13753534	skin	malignant_melanoma	Substitution - Missense
c.812C>T; p.A271V; 12:13753515-13753515	breast	carcinoma	Substitution - Missense
c.812C>T; p.A271V; 12:13753515-13753515	breast	carcinoma	Substitution - Missense
c.3472C>T; p.R1158W; 12:13563766-13563766	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1293G>A; p.R431R; 12:13616490-13616490	skin	malignant_melanoma	Substitution - coding silent
c.812C>T; p.A271V; 12:13753515-13753515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.79C>T; p.R27C; 12:13866130-13866130	skin	malignant_melanoma	Substitution - Missense
c.3420G>A; p.K1140K; 12:13563818-13563818	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.541G>A; p.D181N; 12:13753786-13753786	skin	malignant_melanoma	Substitution - Missense
c.509C>T; p.S170F; 12:13753818-13753818	skin	malignant_melanoma	Substitution - Missense
c.3420G>A; p.K1140K; 12:13563818-13563818	skin	malignant_melanoma	Substitution - coding silent
c.809C>T; p.P270L; 12:13753518-13753518	skin	malignant_melanoma	Substitution - Missense
c.1271C>A; p.P424H; 12:13616512-13616512	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1408A>G; p.K470E; 12:13615585-13615585	skin	malignant_melanoma	Substitution - Missense
c.1609A>G; p.M537V; 12:13615159-13615159	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2360G>T; p.G787V; 12:13567263-13567263	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.814G>A; p.E272K; 12:13753513-13753513	skin; mucosal	malignant_melanoma	Substitution - Missense
c.3853C>T; p.P1285S; 12:13563385-13563385	skin	malignant_melanoma	Substitution - Missense
c.4425G>A; p.E1475E; 12:13562813-13562813	skin	malignant_melanoma	Substitution - coding silent
c.2379A>G; p.E793E; 12:13567244-13567244	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2460G>A; p.G820G; 12:13567163-13567163	skin	malignant_melanoma	Substitution - coding silent
c.1780+10G>A; p.?; 12:13611715-13611715	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.688C>T; p.L230F; 12:13753639-13753639	skin	malignant_melanoma	Substitution - Missense
c.1094T>G; p.I365S; 12:13675776-13675776	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1376G>T; p.G459V; 12:13615617-13615617	breast	carcinoma	Substitution - Missense
c.4136C>T; p.P1379L; 12:13563102-13563102	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2639G>C; p.R880P; 12:13564599-13564599	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4203C>A; p.S1401R; 12:13563035-13563035	breast	carcinoma	Substitution - Missense
c.2617C>T; p.H873Y; 12:13564621-13564621	skin	malignant_melanoma	Substitution - Missense
c.3606C>A; p.T1202T; 12:13563632-13563632	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2990C>T; p.A997V; 12:13564248-13564248	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4358A>G; p.N1453S; 12:13562880-13562880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3685G>A; p.V1229M; 12:13563553-13563553	skin	malignant_melanoma	Substitution - Missense
c.3685G>A; p.V1229M; 12:13563553-13563553	skin	malignant_melanoma	Substitution - Missense
c.198C>A; p.P66P; 12:13866011-13866011	central_nervous_system; brain	glioma	Substitution - coding silent
c.2638C>T; p.R880C; 12:13564600-13564600	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.198C>A; p.P66P; 12:13866011-13866011	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3949C>A; p.L1317M; 12:13563289-13563289	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3896G>A; p.R1299H; 12:13563342-13563342	breast	carcinoma	Substitution - Missense
c.2037C>A; p.P679P; 12:13571938-13571938	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2053A>G; p.T685A; 12:13571922-13571922	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1329-2A>G; p.?; 12:13615666-13615666	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.4154A>G; p.N1385S; 12:13563084-13563084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2238C>T; p.C746C; 12:13569951-13569951	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3220G>A; p.E1074K; 12:13564018-13564018	skin	malignant_melanoma	Substitution - Missense
c.3007C>T; p.L1003F; 12:13564231-13564231	skin	malignant_melanoma	Substitution - Missense
c.3220G>A; p.E1074K; 12:13564018-13564018	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1071G>C; p.Q357H; 12:13675799-13675799	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4021G>C; p.E1341Q; 12:13563217-13563217	breast	carcinoma	Substitution - Missense
c.2146G>A; p.D716N; 12:13571829-13571829	skin; trunk	malignant_melanoma	Substitution - Missense
c.1459G>T; p.G487W; 12:13615534-13615534	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3102G>T; p.Q1034H; 12:13564136-13564136	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.336C>T; p.L112L; 12:13865873-13865873	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.655C>T; p.Q219*; 12:13753672-13753672	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.274C>T; p.R92W; 12:13865935-13865935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4257G>A; p.P1419P; 12:13562981-13562981	skin	malignant_melanoma	Substitution - coding silent
c.1930G>C; p.A644P; 12:13608683-13608683	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.3086C>T; p.S1029F; 12:13564152-13564152	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4257G>A; p.P1419P; 12:13562981-13562981	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1671C>T; p.D557D; 12:13611834-13611834	central_nervous_system; brain	glioma	Substitution - coding silent
c.1271C>T; p.P424L; 12:13616512-13616512	skin	malignant_melanoma	Substitution - Missense
c.1671C>T; p.D557D; 12:13611834-13611834	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2934C>T; p.S978S; 12:13564304-13564304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.850G>A; p.E284K; 12:13753477-13753477	skin	malignant_melanoma	Substitution - Missense
c.1271C>T; p.P424L; 12:13616512-13616512	skin	malignant_melanoma	Substitution - Missense
c.2698C>G; p.R900G; 12:13564540-13564540	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3026C>A; p.P1009Q; 12:13564212-13564212	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3490C>T; p.R1164C; 12:13563748-13563748	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1959C>T; p.F653F; 12:13608654-13608654	skin	malignant_melanoma	Substitution - coding silent
c.3621G>A; p.E1207E; 12:13563617-13563617	skin	malignant_melanoma	Substitution - coding silent
c.2099C>A; p.A700E; 12:13571876-13571876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2732T>G; p.L911R; 12:13564506-13564506	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3549G>A; p.T1183T; 12:13563689-13563689	central_nervous_system; brain	glioma	Substitution - coding silent
c.3549G>A; p.T1183T; 12:13563689-13563689	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4179C>G; p.D1393E; 12:13563059-13563059	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2983G>C; p.G995R; 12:13564255-13564255	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3301G>A; p.E1101K; 12:13563937-13563937	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2098G>A; p.A700T; 12:13571877-13571877	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1048T>A; p.S350T; 12:13675822-13675822	skin	malignant_melanoma	Substitution - Missense
c.2021C>G; p.P674R; 12:13571954-13571954	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2997C>T; p.S999S; 12:13564241-13564241	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3301G>A; p.E1101K; 12:13563937-13563937	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4415A>G; p.H1472R; 12:13562823-13562823	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2393C>T; p.T798I; 12:13567230-13567230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3921C>T; p.F1307F; 12:13563317-13563317	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2100A>G; p.A700A; 12:13571875-13571875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2100A>G; p.A700A; 12:13571875-13571875	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1559C>T; p.S520L; 12:13615209-13615209	skin	malignant_melanoma	Substitution - Missense
c.3473G>A; p.R1158Q; 12:13563765-13563765	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2100A>G; p.A700A; 12:13571875-13571875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2100A>G; p.A700A; 12:13571875-13571875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2100A>G; p.A700A; 12:13571875-13571875	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.2T>C; p.M1T; 12:13866207-13866207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3159C>T; p.D1053D; 12:13564079-13564079	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2698C>T; p.R900C; 12:13564540-13564540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.442C>T; p.P148S; 12:13753885-13753885	skin	malignant_melanoma	Substitution - Missense
c.4245G>A; p.S1415S; 12:13562993-13562993	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3159C>T; p.D1053D; 12:13564079-13564079	prostate	carcinoma	Substitution - coding silent
c.2658C>G; p.S886S; 12:13564580-13564580	pancreas	carcinoma	Substitution - coding silent
c.3753G>C; p.L1251L; 12:13563485-13563485	breast	carcinoma	Substitution - coding silent
c.559C>T; p.R187C; 12:13753768-13753768	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1947C>A; p.N649K; 12:13608666-13608666	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3627G>A; p.R1209R; 12:13563611-13563611	skin; arm	malignant_melanoma	Substitution - coding silent
c.559C>T; p.R187C; 12:13753768-13753768	central_nervous_system; brain	glioma	Substitution - Missense
c.2491C>A; p.L831I; 12:13567132-13567132	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4012C>A; p.H1338N; 12:13563226-13563226	skin	malignant_melanoma	Substitution - Missense
c.3042G>T; p.Q1014H; 12:13564196-13564196	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1207G>A; p.D403N; 12:13616576-13616576	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.3456C>T; p.T1152T; 12:13563782-13563782	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2780G>A; p.R927Q; 12:13564458-13564458	prostate	carcinoma	Substitution - Missense
c.1207G>A; p.D403N; 12:13616576-13616576	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3456C>T; p.T1152T; 12:13563782-13563782	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.4430T>G; p.L1477R; 12:13562808-13562808	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1010G>C; p.R337T; 12:13753317-13753317	breast	carcinoma	Substitution - Missense
c.99delC; p.S34fs*38; 12:13866110-13866110	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.570T>G; p.I190M; 12:13753757-13753757	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3213G>A; p.G1071G; 12:13564025-13564025	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.99delC; p.S34fs*38; 12:13866110-13866110	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.99delC; p.S34fs*38; 12:13866110-13866110	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.127G>T; p.G43C; 12:13866082-13866082	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.466G>A; p.V156I; 12:13753861-13753861	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1639C>A; p.P547T; 12:13615129-13615129	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3231C>T; p.A1077A; 12:13564007-13564007	breast	carcinoma	Substitution - coding silent
c.3456C>A; p.T1152T; 12:13563782-13563782	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2297T>A; p.I766N; 12:13569892-13569892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2815C>A; p.R939S; 12:13564423-13564423	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4244C>T; p.S1415L; 12:13562994-13562994	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2377G>A; p.E793K; 12:13567246-13567246	skin	malignant_melanoma	Substitution - Missense
c.3954C>G; p.A1318A; 12:13563284-13563284	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2790C>T; p.S930S; 12:13564448-13564448	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.271G>A; p.D91N; 12:13865938-13865938	skin	malignant_melanoma	Substitution - Missense
c.1350G>A; p.P450P; 12:13615643-13615643	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.99_100insC; p.S34fs*25; 12:13866109-13866110	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.703G>A; p.E235K; 12:13753624-13753624	skin	malignant_melanoma	Substitution - Missense
c.612A>T; p.L204L; 12:13753715-13753715	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.275G>T; p.R92L; 12:13865934-13865934	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.4423G>A; p.E1475K; 12:13562815-13562815	thyroid	carcinoma	Substitution - Missense
c.3627G>C; p.R1209R; 12:13563611-13563611	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3913G>A; p.D1305N; 12:13563325-13563325	oesophagus	carcinoma	Substitution - Missense
c.1509G>A; p.M503I; 12:13615259-13615259	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2804C>G; p.S935*; 12:13564434-13564434	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.1555C>T; p.R519*; 12:13615213-13615213	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2804C>G; p.S935*; 12:13564434-13564434	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2754G>A; p.P918P; 12:13564484-13564484	prostate	carcinoma	Substitution - coding silent
c.1034A>T; p.E345V; 12:13675836-13675836	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1881C>T; p.T627T; 12:13608732-13608732	skin	malignant_melanoma	Substitution - coding silent
c.2754G>A; p.P918P; 12:13564484-13564484	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.337G>A; p.D113N; 12:13865872-13865872	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1965C>T; p.I655I; 12:13608648-13608648	skin	malignant_melanoma	Substitution - coding silent
c.2812C>T; p.R938C; 12:13564426-13564426	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.337G>A; p.D113N; 12:13865872-13865872	skin	malignant_melanoma	Substitution - Missense
c.3411C>A; p.F1137L; 12:13563827-13563827	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3955C>A; p.P1319T; 12:13563283-13563283	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.337G>A; p.D113N; 12:13865872-13865872	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2446G>A; p.D816N; 12:13567177-13567177	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2446G>A; p.D816N; 12:13567177-13567177	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.2359+1G>A; p.?; 12:13569829-13569829	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.2491C>T; p.L831F; 12:13567132-13567132	skin	malignant_melanoma	Substitution - Missense
c.4140C>A; p.D1380E; 12:13563098-13563098	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2823C>T; p.F941F; 12:13564415-13564415	skin	malignant_melanoma	Substitution - coding silent
c.139G>A; p.E47K; 12:13866070-13866070	skin	malignant_melanoma	Substitution - Missense
c.1874G>A; p.G625E; 12:13608739-13608739	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.139G>A; p.E47K; 12:13866070-13866070	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3403G>A; p.D1135N; 12:13563835-13563835	skin	malignant_melanoma	Substitution - Missense
c.3469G>A; p.E1157K; 12:13563769-13563769	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2715C>A; p.A905A; 12:13564523-13564523	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2929G>A; p.D977N; 12:13564309-13564309	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3438G>A; p.W1146*; 12:13563800-13563800	skin	malignant_melanoma	Substitution - Nonsense
c.529C>A; p.P177T; 12:13753798-13753798	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3645C>T; p.C1215C; 12:13563593-13563593	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.61G>T; p.V21L; 12:13866148-13866148	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3781C>T; p.Q1261*; 12:13563457-13563457	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1424C>A; p.T475N; 12:13615569-13615569	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1677G>T; p.W559C; 12:13611828-13611828	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3645C>T; p.C1215C; 12:13563593-13563593	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.720C>A; p.I240I; 12:13753607-13753607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.197C>T; p.P66L; 12:13866012-13866012	skin	malignant_melanoma	Substitution - Missense
c.2118G>A; p.M706I; 12:13571857-13571857	skin	malignant_melanoma	Substitution - Missense
c.2521C>T; p.L841F; 12:13567102-13567102	skin	malignant_melanoma	Substitution - Missense
c.3836C>T; p.T1279I; 12:13563402-13563402	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.223G>T; p.E75*; 12:13865986-13865986	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.10A>G; p.R4G; 12:13866199-13866199	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1113G>T; p.R371S; 12:13675757-13675757	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.783G>A; p.L261L; 12:13753544-13753544	skin	malignant_melanoma	Substitution - coding silent
c.600G>T; p.E200D; 12:13753727-13753727	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3362G>A; p.R1121H; 12:13563876-13563876	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1596A>T; p.T532T; 12:13615172-13615172	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3771C>A; p.D1257E; 12:13563467-13563467	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.440G>A; p.G147D; 12:13753887-13753887	skin	malignant_melanoma	Substitution - Missense
c.3135G>C; p.K1045N; 12:13564103-13564103	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2130C>G; p.N710K; 12:13571845-13571845	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2412G>A; p.E804E; 12:13567211-13567211	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4208C>T; p.S1403F; 12:13563030-13563030	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2789C>T; p.S930F; 12:13564449-13564449	skin	malignant_melanoma	Substitution - Missense
c.138C>T; p.D46D; 12:13866071-13866071	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4208C>T; p.S1403F; 12:13563030-13563030	skin	malignant_melanoma	Substitution - Missense
c.4208C>T; p.S1403F; 12:13563030-13563030	skin	malignant_melanoma	Substitution - Missense
c.3505G>C; p.G1169R; 12:13563733-13563733	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.3316G>T; p.E1106*; 12:13563922-13563922	breast	carcinoma	Substitution - Nonsense
c.3263G>A; p.S1088N; 12:13563975-13563975	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2639G>A; p.R880H; 12:13564599-13564599	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2639G>A; p.R880H; 12:13564599-13564599	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.484G>T; p.E162*; 12:13753843-13753843	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1041G>A; p.R347R; 12:13675829-13675829	skin	malignant_melanoma	Substitution - coding silent
c.4031C>T; p.A1344V; 12:13563207-13563207	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1455G>A; p.K485K; 12:13615538-13615538	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.429C>A; p.F143L; 12:13753898-13753898	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.94C>T; p.P32S; 12:13866115-13866115	skin	malignant_melanoma	Substitution - Missense
c.3175G>A; p.D1059N; 12:13564063-13564063	skin	malignant_melanoma	Substitution - Missense
c.2305G>A; p.D769N; 12:13569884-13569884	skin	malignant_melanoma	Substitution - Missense
c.678C>A; p.P226P; 12:13753649-13753649	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.274C>A; p.R92R; 12:13865935-13865935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3391G>A; p.D1131N; 12:13563847-13563847	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2664C>T; p.T888T; 12:13564574-13564574	breast	carcinoma	Substitution - coding silent
c.2664C>T; p.T888T; 12:13564574-13564574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3993_3994GG>AA; p.M1331_D1332>IN; 12:13563244-13563245	skin; head_neck	carcinoma; squamous_cell_carcinoma	Complex - compound substitution
c.3207C>T; p.T1069T; 12:13564031-13564031	skin	malignant_melanoma	Substitution - coding silent
c.274C>A; p.R92R; 12:13865935-13865935	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2664C>T; p.T888T; 12:13564574-13564574	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.274C>A; p.R92R; 12:13865935-13865935	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3784G>A; p.E1262K; 12:13563454-13563454	skin	malignant_melanoma	Substitution - Missense
c.2072C>T; p.T691I; 12:13571903-13571903	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.157G>A; p.A53T; 12:13866052-13866052	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.1149C>A; p.S383S; 12:13616634-13616634	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4347G>A; p.G1449G; 12:13562891-13562891	skin	malignant_melanoma	Substitution - coding silent
c.2678A>T; p.N893I; 12:13564560-13564560	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4347G>A; p.G1449G; 12:13562891-13562891	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2326G>A; p.V776M; 12:13569863-13569863	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.809C>A; p.P270H; 12:13753518-13753518	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3138C>T; p.S1046S; 12:13564100-13564100	breast	carcinoma	Substitution - coding silent
c.2708G>A; p.R903H; 12:13564530-13564530	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3679A>C; p.T1227P; 12:13563559-13563559	skin	malignant_melanoma	Substitution - Missense
c.2708G>A; p.R903H; 12:13564530-13564530	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2590A>G; p.I864V; 12:13567033-13567033	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2708G>A; p.R903H; 12:13564530-13564530	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2360-2A>G; p.?; 12:13567265-13567265	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.3492C>T; p.R1164R; 12:13563746-13563746	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3492C>T; p.R1164R; 12:13563746-13563746	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3087C>T; p.S1029S; 12:13564151-13564151	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3751C>T; p.L1251L; 12:13563487-13563487	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1890C>T; p.I630I; 12:13608723-13608723	skin	malignant_melanoma	Substitution - coding silent
c.2550T>G; p.F850L; 12:13567073-13567073	skin	malignant_melanoma	Substitution - Missense
c.3625C>T; p.R1209W; 12:13563613-13563613	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1972G>A; p.E658K; 12:13608641-13608641	skin	malignant_melanoma	Substitution - Missense
c.201G>T; p.R67R; 12:13866008-13866008	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.513C>T; p.I171I; 12:13753814-13753814	skin	malignant_melanoma	Substitution - coding silent
c.513C>T; p.I171I; 12:13753814-13753814	liver	carcinoma	Substitution - coding silent
c.1994G>A; p.G665D; 12:13608619-13608619	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1475G>A; p.G492E; 12:13615518-13615518	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3580C>T; p.P1194S; 12:13563658-13563658	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2118G>T; p.M706I; 12:13571857-13571857	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1177delC; p.R393fs*14; 12:13616606-13616606	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.464C>A; p.S155Y; 12:13753863-13753863	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1177delC; p.R393fs*14; 12:13616606-13616606	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.834C>A; p.I278I; 12:13753493-13753493	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3779T>G; p.L1260R; 12:13563459-13563459	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2045G>A; p.R682H; 12:13571930-13571930	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3727G>C; p.E1243Q; 12:13563511-13563511	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3534C>T; p.H1178H; 12:13563704-13563704	thyroid	other; neoplasm	Substitution - coding silent
c.2471T>G; p.M824R; 12:13567152-13567152	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2045G>A; p.R682H; 12:13571930-13571930	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.928G>C; p.E310Q; 12:13753399-13753399	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3534C>T; p.H1178H; 12:13563704-13563704	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4346G>A; p.G1449E; 12:13562892-13562892	skin	malignant_melanoma	Substitution - Missense
c.3293C>A; p.S1098Y; 12:13563945-13563945	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3565G>A; p.V1189M; 12:13563673-13563673	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3129C>T; p.S1043S; 12:13564109-13564109	skin	malignant_melanoma	Substitution - coding silent
c.3565G>A; p.V1189M; 12:13563673-13563673	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.3565G>A; p.V1189M; 12:13563673-13563673	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.93C>T; p.S31S; 12:13866116-13866116	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1478C>A; p.T493N; 12:13615515-13615515	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3721C>T; p.R1241W; 12:13563517-13563517	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.847G>A; p.D283N; 12:13753480-13753480	skin	malignant_melanoma	Substitution - Missense
c.3721C>T; p.R1241W; 12:13563517-13563517	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4382A>G; p.N1461S; 12:13562856-13562856	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2071A>G; p.T691A; 12:13571904-13571904	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3825C>T; p.N1275N; 12:13563413-13563413	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.3993G>A; p.M1331I; 12:13563245-13563245	skin	malignant_melanoma	Substitution - Missense
c.2071A>G; p.T691A; 12:13571904-13571904	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1607T>G; p.V536G; 12:13615161-13615161	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.656A>T; p.Q219L; 12:13753671-13753671	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1406C>A; p.S469Y; 12:13615587-13615587	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3825C>T; p.N1275N; 12:13563413-13563413	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4009G>A; p.A1337T; 12:13563229-13563229	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2511C>T; p.I837I; 12:13567112-13567112	skin	malignant_melanoma	Substitution - coding silent
c.3532C>T; p.H1178Y; 12:13563706-13563706	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3383G>T; p.G1128V; 12:13563855-13563855	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.432C>A; p.F144L; 12:13753895-13753895	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3669C>T; p.H1223H; 12:13563569-13563569	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1285T>A; p.C429S; 12:13616498-13616498	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1666G>A; p.A556T; 12:13611839-13611839	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.3201C>T; p.T1067T; 12:13564037-13564037	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1619G>A; p.R540H; 12:13615149-13615149	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.356C>T; p.T119I; 12:13865853-13865853	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1619G>A; p.R540H; 12:13615149-13615149	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1003C>A; p.L335I; 12:13753324-13753324	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.356C>T; p.T119I; 12:13865853-13865853	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1619G>A; p.R540H; 12:13615149-13615149	breast	carcinoma	Substitution - Missense
c.1619G>A; p.R540H; 12:13615149-13615149	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2515G>A; p.E839K; 12:13567108-13567108	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1619G>A; p.R540H; 12:13615149-13615149	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2515G>A; p.E839K; 12:13567108-13567108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2519A>C; p.H840P; 12:13567104-13567104	breast	carcinoma	Substitution - Missense
c.1080G>A; p.P360P; 12:13675790-13675790	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3421G>A; p.E1141K; 12:13563817-13563817	skin	malignant_melanoma	Substitution - Missense
c.3421G>A; p.E1141K; 12:13563817-13563817	skin	malignant_melanoma	Substitution - Missense
c.3421G>A; p.E1141K; 12:13563817-13563817	skin	malignant_melanoma	Substitution - Missense
c.3421G>A; p.E1141K; 12:13563817-13563817	skin	malignant_melanoma	Substitution - Missense
c.3889A>T; p.K1297*; 12:13563349-13563349	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.635G>A; p.G212E; 12:13753692-13753692	skin	malignant_melanoma	Substitution - Missense
c.3873G>C; p.Q1291H; 12:13563365-13563365	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3910_3912delTAC; p.Y1304delY; 12:13563326-13563328	eye; uveal_tract	malignant_melanoma; spindle	Deletion - In frame
c.3126C>G; p.F1042L; 12:13564112-13564112	skin	malignant_melanoma	Substitution - Missense
c.2129A>G; p.N710S; 12:13571846-13571846	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3160G>A; p.D1054N; 12:13564078-13564078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2996C>T; p.S999F; 12:13564242-13564242	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2454G>T; p.M818I; 12:13567169-13567169	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4107C>A; p.G1369G; 12:13563131-13563131	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.186C>A; p.L62L; 12:13866023-13866023	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1872G>A; p.K624K; 12:13608741-13608741	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2086C>T; p.R696C; 12:13571889-13571889	skin	malignant_melanoma	Substitution - Missense
c.2086C>T; p.R696C; 12:13571889-13571889	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2086C>T; p.R696C; 12:13571889-13571889	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3159C>A; p.D1053E; 12:13564079-13564079	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2665G>A; p.A889T; 12:13564573-13564573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2859C>T; p.P953P; 12:13564379-13564379	skin	malignant_melanoma	Substitution - coding silent
c.2567G>T; p.G856V; 12:13567056-13567056	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2567G>T; p.G856V; 12:13567056-13567056	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.573G>A; p.E191E; 12:13753754-13753754	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.568A>G; p.I190V; 12:13753759-13753759	breast	carcinoma	Substitution - Missense
c.80G>T; p.R27L; 12:13866129-13866129	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3339G>A; p.P1113P; 12:13563899-13563899	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2620G>A; p.G874R; 12:13564618-13564618	skin	malignant_melanoma	Substitution - Missense
c.3575G>A; p.G1192E; 12:13563663-13563663	skin	malignant_melanoma	Substitution - Missense
c.1747G>C; p.V583L; 12:13611758-13611758	breast	carcinoma	Substitution - Missense
c.4355C>T; p.S1452F; 12:13562883-13562883	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3208T>A; p.Y1070N; 12:13564030-13564030	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1792C>T; p.P598S; 12:13608821-13608821	skin	malignant_melanoma	Substitution - Missense
c.4001G>A; p.S1334N; 12:13563237-13563237	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1672G>A; p.V558I; 12:13611833-13611833	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1517C>T; p.A506V; 12:13615251-13615251	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2456C>A; p.A819E; 12:13567167-13567167	oesophagus	carcinoma	Substitution - Missense
c.1837G>A; p.V613M; 12:13608776-13608776	skin	malignant_melanoma	Substitution - Missense
c.2127C>T; p.F709F; 12:13571848-13571848	skin	malignant_melanoma	Substitution - coding silent
c.4321C>T; p.R1441C; 12:13562917-13562917	skin	malignant_melanoma	Substitution - Missense
c.2039C>T; p.P680L; 12:13571936-13571936	skin	malignant_melanoma	Substitution - Missense
c.3374A>G; p.D1125G; 12:13563864-13563864	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2127C>T; p.F709F; 12:13571848-13571848	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4321C>T; p.R1441C; 12:13562917-13562917	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4321C>T; p.R1441C; 12:13562917-13562917	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1147T>C; p.S383P; 12:13616636-13616636	skin	malignant_melanoma	Substitution - Missense
c.3871C>T; p.Q1291*; 12:13563367-13563367	skin	malignant_melanoma	Substitution - Nonsense
c.530C>T; p.P177L; 12:13753797-13753797	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2930A>T; p.D977V; 12:13564308-13564308	skin	malignant_melanoma	Substitution - Missense
c.2429G>T; p.S810I; 12:13567194-13567194	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1767C>T; p.L589L; 12:13611738-13611738	skin	malignant_melanoma	Substitution - coding silent
c.4094A>G; p.N1365S; 12:13563144-13563144	skin	malignant_melanoma	Substitution - Missense
c.3165G>C; p.L1055F; 12:13564073-13564073	skin	malignant_melanoma	Substitution - Missense
c.1704C>T; p.I568I; 12:13611801-13611801	pancreas	carcinoma	Substitution - coding silent
c.2502C>T; p.I834I; 12:13567121-13567121	skin	malignant_melanoma	Substitution - coding silent
c.1704C>T; p.I568I; 12:13611801-13611801	skin	malignant_melanoma	Substitution - coding silent
c.1704C>T; p.I568I; 12:13611801-13611801	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2933G>A; p.S978N; 12:13564305-13564305	skin	malignant_melanoma	Substitution - Missense
c.1873G>A; p.G625R; 12:13608740-13608740	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1772A>G; p.D591G; 12:13611733-13611733	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1772A>G; p.D591G; 12:13611733-13611733	stomach	adenocarcinoma	Substitution - Missense
c.276G>A; p.R92R; 12:13865933-13865933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3000C>T; p.I1000I; 12:13564238-13564238	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2779C>T; p.R927W; 12:13564459-13564459	kidney	other; neoplasm	Substitution - Missense
c.2037C>T; p.P679P; 12:13571938-13571938	skin	malignant_melanoma	Substitution - coding silent
c.1204G>A; p.E402K; 12:13616579-13616579	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1561G>A; p.E521K; 12:13615207-13615207	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1037G>A; p.G346E; 12:13675833-13675833	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1916C>T; p.A639V; 12:13608697-13608697	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.944C>A; p.P315H; 12:13753383-13753383	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1113G>A; p.R371R; 12:13675757-13675757	skin	malignant_melanoma	Substitution - coding silent
c.905C>T; p.T302I; 12:13753422-13753422	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4179C>A; p.D1393E; 12:13563059-13563059	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.942C>T; p.I314I; 12:13753385-13753385	skin	malignant_melanoma	Substitution - coding silent
c.3896G>T; p.R1299L; 12:13563342-13563342	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.716A>T; p.Y239F; 12:13753611-13753611	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3876G>T; p.K1292N; 12:13563362-13563362	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3957G>A; p.P1319P; 12:13563281-13563281	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1148C>T; p.S383F; 12:13616635-13616635	skin; trunk	malignant_melanoma	Substitution - Missense
c.4401C>T; p.G1467G; 12:13562837-13562837	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1176C>A; p.P392P; 12:13616607-13616607	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3168C>T; p.I1056I; 12:13564070-13564070	skin	malignant_melanoma	Substitution - coding silent
c.4228A>C; p.T1410P; 12:13563010-13563010	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3399C>T; p.Y1133Y; 12:13563839-13563839	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1592A>G; p.E531G; 12:13615176-13615176	breast	carcinoma	Substitution - Missense
c.3338C>T; p.P1113L; 12:13563900-13563900	skin	malignant_melanoma	Substitution - Missense
c.3630C>T; p.S1210S; 12:13563608-13563608	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2718G>C; p.K906N; 12:13564520-13564520	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4391C>T; p.A1464V; 12:13562847-13562847	skin	malignant_melanoma	Substitution - Missense
c.2064C>T; p.N688N; 12:13571911-13571911	breast	carcinoma	Substitution - coding silent
c.2064C>T; p.N688N; 12:13571911-13571911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1862A>T; p.Q621L; 12:13608751-13608751	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3925G>A; p.D1309N; 12:13563313-13563313	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.50C>A; p.A17D; 12:13866159-13866159	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.80G>A; p.R27H; 12:13866129-13866129	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.3553G>A; p.D1185N; 12:13563685-13563685	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.325G>A; p.A109T; 12:13865884-13865884	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.325G>A; p.A109T; 12:13865884-13865884	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.325G>A; p.A109T; 12:13865884-13865884	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.325G>A; p.A109T; 12:13865884-13865884	prostate	carcinoma	Substitution - Missense
c.3553G>A; p.D1185N; 12:13563685-13563685	skin	malignant_melanoma	Substitution - Missense
c.3997G>A; p.G1333R; 12:13563241-13563241	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4197T>C; p.H1399H; 12:13563041-13563041	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4295C>T; p.S1432L; 12:13562943-13562943	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3828C>T; p.A1276A; 12:13563410-13563410	skin	malignant_melanoma	Substitution - coding silent
c.370C>T; p.L124L; 12:13865839-13865839	skin	malignant_melanoma	Substitution - coding silent
c.4027T>C; p.S1343P; 12:13563211-13563211	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2937C>T; p.N979N; 12:13564301-13564301	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1665C>A; p.S555R; 12:13611840-13611840	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3352G>T; p.D1118Y; 12:13563886-13563886	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2288G>T; p.G763V; 12:13569901-13569901	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4195C>A; p.H1399N; 12:13563043-13563043	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3937G>A; p.E1313K; 12:13563301-13563301	skin	malignant_melanoma	Substitution - Missense
c.2288G>T; p.G763V; 12:13569901-13569901	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1647C>A; p.A549A; 12:13615121-13615121	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4053C>A; p.N1351K; 12:13563185-13563185	ovary	other; neoplasm	Substitution - Missense
c.2288G>T; p.G763V; 12:13569901-13569901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3937G>A; p.E1313K; 12:13563301-13563301	skin; trunk	malignant_melanoma	Substitution - Missense
c.3895C>T; p.R1299C; 12:13563343-13563343	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.165G>A; p.E55E; 12:13866044-13866044	breast	carcinoma	Substitution - coding silent
c.4338C>T; p.I1446I; 12:13562900-13562900	skin	malignant_melanoma	Substitution - coding silent
c.609C>T; p.L203L; 12:13753718-13753718	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3414A>G; p.R1138R; 12:13563824-13563824	pancreas	carcinoma	Substitution - coding silent
c.2309C>A; p.S770Y; 12:13569880-13569880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.364C>T; p.P122S; 12:13865845-13865845	skin	malignant_melanoma	Substitution - Missense
c.1107G>A; p.K369K; 12:13675763-13675763	skin	malignant_melanoma	Substitution - coding silent
c.724G>A; p.E242K; 12:13753603-13753603	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3211G>A; p.G1071R; 12:13564027-13564027	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3211G>A; p.G1071R; 12:13564027-13564027	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.724G>A; p.E242K; 12:13753603-13753603	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.724G>A; p.E242K; 12:13753603-13753603	urinary_tract; bladder	carcinoma	Substitution - Missense
c.144G>C; p.V48V; 12:13866065-13866065	liver	carcinoma	Substitution - coding silent
c.2815C>T; p.R939C; 12:13564423-13564423	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1501-1G>T; p.?; 12:13615268-13615268	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.4198G>A; p.G1400S; 12:13563040-13563040	skin	malignant_melanoma	Substitution - Missense
c.1533C>A; p.G511G; 12:13615235-13615235	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1371C>A; p.C457*; 12:13615622-13615622	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1533C>A; p.G511G; 12:13615235-13615235	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.299C>T; p.A100V; 12:13865910-13865910	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3115T>A; p.Y1039N; 12:13564123-13564123	ovary	other; neoplasm	Substitution - Missense
c.2044C>T; p.R682C; 12:13571931-13571931	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4320C>T; p.A1440A; 12:13562918-13562918	skin	malignant_melanoma	Substitution - coding silent
c.1470C>A; p.I490I; 12:13615523-13615523	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2364G>C; p.E788D; 12:13567259-13567259	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3702G>A; p.S1234S; 12:13563536-13563536	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2012T>G; p.F671C; 12:13571963-13571963	skin	malignant_melanoma	Substitution - Missense
c.251G>A; p.R84H; 12:13865958-13865958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4414C>T; p.H1472Y; 12:13562824-13562824	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.256T>A; p.C86S; 12:13865953-13865953	liver	carcinoma	Substitution - Missense
c.3789G>A; p.L1263L; 12:13563449-13563449	skin	malignant_melanoma	Substitution - coding silent
c.396G>A; p.M132I; 12:13865813-13865813	skin	malignant_melanoma	Substitution - Missense
c.2055C>T; p.T685T; 12:13571920-13571920	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.820C>T; p.P274S; 12:13753507-13753507	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2055C>T; p.T685T; 12:13571920-13571920	liver	carcinoma	Substitution - coding silent
c.256T>A; p.C86S; 12:13865953-13865953	liver	carcinoma	Substitution - Missense
c.3017G>C; p.C1006S; 12:13564221-13564221	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1884C>T; p.S628S; 12:13608729-13608729	skin	malignant_melanoma	Substitution - coding silent
c.3284C>T; p.S1095L; 12:13563954-13563954	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.767G>T; p.W256L; 12:13753560-13753560	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.791G>A; p.G264E; 12:13753536-13753536	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1402_1403insA; p.I468fs*3; 12:13615590-13615591	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.4345G>A; p.G1449R; 12:13562893-13562893	skin	malignant_melanoma	Substitution - Missense
c.1503G>T; p.V501V; 12:13615265-13615265	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3900G>T; p.R1300R; 12:13563338-13563338	liver	carcinoma	Substitution - coding silent
c.3841T>C; p.Y1281H; 12:13563397-13563397	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4444T>A; p.S1482T; 12:13562794-13562794	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3900G>T; p.R1300R; 12:13563338-13563338	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.390C>A; p.S130S; 12:13865819-13865819	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1309C>T; p.Q437*; 12:13616474-13616474	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.2092A>G; p.N698D; 12:13571883-13571883	liver	carcinoma	Substitution - Missense
c.528C>T; p.F176F; 12:13753799-13753799	skin	malignant_melanoma	Substitution - coding silent
c.943C>T; p.P315S; 12:13753384-13753384	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2079A>T; p.R693S; 12:13571896-13571896	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2711C>T; p.T904M; 12:13564527-13564527	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1244C>A; p.P415Q; 12:13616539-13616539	prostate	carcinoma	Substitution - Missense
c.113C>G; p.A38G; 12:13866096-13866096	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3274C>T; p.R1092W; 12:13563964-13563964	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3068T>C; p.L1023P; 12:13564170-13564170	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation