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	196528
Symbol	ARID2
Synonymous	BAF200\|p200
Full name	AT rich interactive domain 2 (ARID, RFX-like)
Gene description	ARID domain-containing protein 2\|AT-rich interactive domain-containing protein 2\|BRG1-associated factor 200\|zinc finger protein with activation potential\|zipzap\|zipzap/p200
Cytoband	12q12
Gene type	protein-coding
Synonymous	MIM:609539; HGNC:HGNC:18037; Ensembl:ENSG00000189079; HPRD:16505; Vega:OTTHUMG00000150487

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.5022delT; p.Q1676fs*25; 12:45891879-45891879	liver	carcinoma	Deletion - Frameshift
c.3953_3954insG; p.C1319fs*6; 12:45852076-45852077	breast	carcinoma	Insertion - Frameshift
c.15G>A; p.T5T; 12:45729851-45729851	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.520G>T; p.D174Y; 12:45817771-45817771	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4576delA; p.T1526fs*9; 12:45852699-45852699	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Deletion - Frameshift
c.5482G>C; p.E1828Q; 12:45905052-45905052	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1126G>T; p.E376*; 12:45837503-45837503	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4016_4017delAG; p.N1340fs*12; 12:45852139-45852140	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.4909C>T; p.Q1637*; 12:45860936-45860936	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related	Substitution - Nonsense
c.4909C>T; p.Q1637*; 12:45860936-45860936	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.3298C>T; p.Q1100*; 12:45851421-45851421	skin	malignant_melanoma	Substitution - Nonsense
c.5272-1G>T; p.?; 12:45893629-45893629	stomach	carcinoma; adenocarcinoma	Unknown
c.5269A>G; p.T1757A; 12:45893541-45893541	liver	carcinoma	Substitution - Missense
c.1715+5G>C; p.?; 12:45848975-45848975	pancreas	carcinoma	Unknown
c.4391G>A; p.R1464H; 12:45852514-45852514	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4076A>G; p.N1359S; 12:45852199-45852199	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1397A>C; p.K466T; 12:45839395-45839395	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4510C>T; p.R1504W; 12:45852633-45852633	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3352C>T; p.Q1118*; 12:45851475-45851475	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.928C>T; p.R310C; 12:45836896-45836896	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2226T>C; p.S742S; 12:45850349-45850349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4425C>T; p.T1475T; 12:45852548-45852548	skin	malignant_melanoma	Substitution - coding silent
c.3592C>G; p.P1198A; 12:45851715-45851715	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.700G>A; p.V234I; 12:45821482-45821482	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.820C>T; p.R274*; 12:45836788-45836788	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.820C>T; p.R274*; 12:45836788-45836788	skin	malignant_melanoma	Substitution - Nonsense
c.820C>T; p.R274*; 12:45836788-45836788	skin	malignant_melanoma	Substitution - Nonsense
c.820C>T; p.R274*; 12:45836788-45836788	skin	malignant_melanoma	Substitution - Nonsense
c.5348C>A; p.S1783*; 12:45893706-45893706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.820C>T; p.R274*; 12:45836788-45836788	skin	malignant_melanoma	Substitution - Nonsense
c.1056T>C; p.T352T; 12:45837353-45837353	liver	carcinoma	Substitution - coding silent
c.4000G>T; p.G1334*; 12:45852123-45852123	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.5272-1G>A; p.?; 12:45893629-45893629	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.4241G>T; p.R1414I; 12:45852364-45852364	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1651delT; p.S551fs*6; 12:45848906-45848906	skin; neck	malignant_melanoma	Deletion - Frameshift
c.3025G>A; p.V1009M; 12:45851148-45851148	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5148G>A; p.K1716K; 12:45893420-45893420	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3482C>T; p.A1161V; 12:45851605-45851605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3091C>T; p.Q1031*; 12:45851214-45851214	thyroid	carcinoma	Substitution - Nonsense
c.3497G>T; p.G1166V; 12:45851620-45851620	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4062A>G; p.R1354R; 12:45852185-45852185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.953delT; p.S319fs*9; 12:45836921-45836921	liver	carcinoma	Deletion - Frameshift
c.1467C>T; p.V489V; 12:45839465-45839465	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.155C>T; p.T52I; 12:45730106-45730106	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2455C>T; p.Q819*; 12:45850578-45850578	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2455C>T; p.Q819*; 12:45850578-45850578	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.678A>G; p.K226K; 12:45821460-45821460	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3474delT; p.N1158fs*15; 12:45851597-45851597	liver	carcinoma	Deletion - Frameshift
c.2649C>G; p.V883V; 12:45850772-45850772	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3287A>G; p.Q1096R; 12:45851410-45851410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.94T>A; p.S32T; 12:45730045-45730045	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4717delG; p.A1573fs*53; 12:45852840-45852840	liver	carcinoma	Deletion - Frameshift
c.4644C>T; p.G1548G; 12:45852767-45852767	oesophagus	carcinoma	Substitution - coding silent
c.4582G>A; p.A1528T; 12:45852705-45852705	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1805G>T; p.R602M; 12:45849669-45849669	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.193G>T; p.E65*; 12:45731223-45731223	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.3670C>G; p.P1224A; 12:45851793-45851793	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.4825A>G; p.S1609G; 12:45860852-45860852	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1499-1G>A; p.?; 12:45846855-45846855	skin; face	carcinoma; squamous_cell_carcinoma	Unknown
c.4651G>A; p.A1551T; 12:45852774-45852774	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.493C>T; p.L165L; 12:45817744-45817744	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2761C>T; p.P921S; 12:45850884-45850884	skin	malignant_melanoma	Substitution - Missense
c.1825C>T; p.Q609*; 12:45849689-45849689	skin	malignant_melanoma	Substitution - Nonsense
c.2495C>A; p.S832*; 12:45850618-45850618	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2500C>T; p.Q834*; 12:45850623-45850623	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.881G>A; p.R294K; 12:45836849-45836849	skin	malignant_melanoma	Substitution - Missense
c.2169_2170insC; p.Q725fs*7; 12:45850292-45850293	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.4328G>A; p.S1443N; 12:45852451-45852451	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1825C>T; p.Q609*; 12:45849689-45849689	skin	malignant_melanoma	Substitution - Nonsense
c.5001T>G; p.C1667W; 12:45891858-45891858	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4591C>T; p.P1531S; 12:45852714-45852714	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5001T>G; p.C1667W; 12:45891858-45891858	liver	carcinoma	Substitution - Missense
c.1349delT; p.S451fs*12; 12:45839347-45839347	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3445C>T; p.Q1149*; 12:45851568-45851568	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3937C>T; p.Q1313*; 12:45852060-45852060	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1561G>A; p.E521K; 12:45846918-45846918	breast	carcinoma	Substitution - Missense
c.1653G>A; p.S551S; 12:45848908-45848908	breast	carcinoma	Substitution - coding silent
c.961C>T; p.H321Y; 12:45836929-45836929	liver	carcinoma	Substitution - Missense
c.284+1G>A; p.?; 12:45731315-45731315	skin	malignant_melanoma	Unknown
c.961C>T; p.H321Y; 12:45836929-45836929	liver	carcinoma	Substitution - Missense
c.2543_2544insT; p.A849fs*102; 12:45850666-45850667	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.3937C>T; p.Q1313*; 12:45852060-45852060	skin	malignant_melanoma	Substitution - Nonsense
c.2543_2544insT; p.A849fs*102; 12:45850666-45850667	liver	carcinoma	Insertion - Frameshift
c.3937C>T; p.Q1313*; 12:45852060-45852060	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.3937C>T; p.Q1313*; 12:45852060-45852060	skin; face	malignant_melanoma	Substitution - Nonsense
c.1868delG; p.R623fs*24; 12:45849732-45849732	autonomic_ganglia	neuroblastoma	Deletion - Frameshift
c.1653G>A; p.S551S; 12:45848908-45848908	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1120+8T>G; p.?; 12:45837425-45837425	liver	carcinoma	Unknown
c.3102A>G; p.Q1034Q; 12:45851225-45851225	pancreas	carcinoma	Substitution - coding silent
c.881G>T; p.R294I; 12:45836849-45836849	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5026C>T; p.Q1676*; 12:45891883-45891883	skin	malignant_melanoma	Substitution - Nonsense
c.881G>T; p.R294I; 12:45836849-45836849	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1151C>A; p.A384E; 12:45837528-45837528	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.5380G>T; p.E1794*; 12:45904950-45904950	skin	malignant_melanoma	Substitution - Nonsense
c.4999T>C; p.C1667R; 12:45891856-45891856	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1120+1G>A; p.?; 12:45837418-45837418	lung	carcinoma; adenocarcinoma	Unknown
c.2872C>T; p.Q958*; 12:45850995-45850995	skin; back	malignant_melanoma	Substitution - Nonsense
c.535G>T; p.V179L; 12:45817786-45817786	NS	NS	Substitution - Missense
c.310C>A; p.H104N; 12:45811443-45811443	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2158C>T; p.Q720*; 12:45850281-45850281	skin	malignant_melanoma	Substitution - Nonsense
c.2872C>T; p.Q958*; 12:45850995-45850995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1715G>T; p.R572I; 12:45848970-45848970	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.875delT; p.L293fs*1; 12:45836843-45836843	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5203A>T; p.N1735Y; 12:45893475-45893475	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3540G>A; p.T1180T; 12:45851663-45851663	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - coding silent
c.2902A>T; p.I968L; 12:45851025-45851025	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4427C>T; p.S1476F; 12:45852550-45852550	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2110C>G; p.Q704E; 12:45850233-45850233	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4427C>T; p.S1476F; 12:45852550-45852550	liver	carcinoma	Substitution - Missense
c.3001C>T; p.P1001S; 12:45851124-45851124	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.211G>T; p.E71*; 12:45731241-45731241	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.211G>T; p.E71*; 12:45731241-45731241	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1951C>T; p.Q651*; 12:45850074-45850074	liver	carcinoma	Substitution - Nonsense
c.3433_3434insT; p.S1146fs*14; 12:45851556-45851557	liver	carcinoma	Insertion - Frameshift
c.3913C>T; p.P1305S; 12:45852036-45852036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1095delA; p.R366fs*5; 12:45837392-45837392	liver	carcinoma	Deletion - Frameshift
c.716A>T; p.D239V; 12:45836599-45836599	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.5417A>T; p.E1806V; 12:45904987-45904987	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4145C>G; p.S1382C; 12:45852268-45852268	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2743A>G; p.I915V; 12:45850866-45850866	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.285T>C; p.R95R; 12:45811418-45811418	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1352C>G; p.S451C; 12:45839350-45839350	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2308C>T; p.P770S; 12:45850431-45850431	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3149G>C; p.G1050A; 12:45851272-45851272	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2324T>C; p.L775S; 12:45850447-45850447	liver	carcinoma	Substitution - Missense
c.4390C>T; p.R1464C; 12:45852513-45852513	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1979C>A; p.S660*; 12:45850102-45850102	pleura	pulmonary_blastoma	Substitution - Nonsense
c.699C>T; p.F233F; 12:45821481-45821481	skin	malignant_melanoma	Substitution - coding silent
c.3429G>A; p.V1143V; 12:45851552-45851552	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.699C>T; p.F233F; 12:45821481-45821481	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1764_1765insAAT; p.N589_G590insN; 12:45849628-45849629	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.4509T>G; p.V1503V; 12:45852632-45852632	skin	malignant_melanoma	Substitution - coding silent
c.5260C>T; p.R1754*; 12:45893532-45893532	liver	carcinoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	skin	malignant_melanoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	skin	malignant_melanoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	skin	malignant_melanoma	Substitution - Nonsense
c.5260C>T; p.R1754*; 12:45893532-45893532	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Nonsense
c.5260C>T; p.R1754*; 12:45893532-45893532	liver	carcinoma	Substitution - Nonsense
c.1624C>T; p.R542*; 12:45848879-45848879	central_nervous_system; brain	glioma	Substitution - Nonsense
c.966T>C; p.S322S; 12:45836934-45836934	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5260C>T; p.R1754*; 12:45893532-45893532	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.3817C>A; p.R1273R; 12:45851940-45851940	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2680C>T; p.Q894*; 12:45850803-45850803	skin; back	malignant_melanoma	Substitution - Nonsense
c.2680C>T; p.Q894*; 12:45850803-45850803	skin	malignant_melanoma	Substitution - Nonsense
c.925A>G; p.N309D; 12:45836893-45836893	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1592A>G; p.H531R; 12:45848847-45848847	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.940C>T; p.R314C; 12:45836908-45836908	skin	malignant_melanoma	Substitution - Missense
c.103delA; p.I37fs*21; 12:45730054-45730054	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.940C>T; p.R314C; 12:45836908-45836908	skin	malignant_melanoma	Substitution - Missense
c.940C>T; p.R314C; 12:45836908-45836908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.940C>T; p.R314C; 12:45836908-45836908	skin	malignant_melanoma	Substitution - Missense
c.940C>T; p.R314C; 12:45836908-45836908	skin	malignant_melanoma	Substitution - Missense
c.1468C>T; p.Q490*; 12:45839466-45839466	skin	malignant_melanoma	Substitution - Nonsense
c.103delA; p.I37fs*21; 12:45730054-45730054	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.940C>T; p.R314C; 12:45836908-45836908	skin	malignant_melanoma	Substitution - Missense
c.940C>T; p.R314C; 12:45836908-45836908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin; back	malignant_melanoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.4531G>T; p.E1511*; 12:45852654-45852654	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.5219C>T; p.A1740V; 12:45893491-45893491	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.4858C>T; p.Q1620*; 12:45860885-45860885	breast	carcinoma	Substitution - Nonsense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.890C>T; p.S297F; 12:45836858-45836858	skin	malignant_melanoma	Substitution - Missense
c.4531G>T; p.E1511*; 12:45852654-45852654	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.4487C>T; p.S1496F; 12:45852610-45852610	skin	malignant_melanoma	Substitution - Missense
c.1911A>T; p.A637A; 12:45849775-45849775	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3559G>A; p.V1187M; 12:45851682-45851682	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.222A>G; p.E74E; 12:45731252-45731252	thyroid	carcinoma	Substitution - coding silent
c.862C>T; p.Q288*; 12:45836830-45836830	skin	malignant_melanoma	Substitution - Nonsense
c.1801C>T; p.R601W; 12:45849665-45849665	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2404T>C; p.F802L; 12:45850527-45850527	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1607_1608delCA; p.P536fs*12; 12:45848862-45848863	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2296C>T; p.P766S; 12:45850419-45850419	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5147+1G>A; p.?; 12:45892097-45892097	skin; lower_leg	malignant_melanoma	Unknown
c.4061G>A; p.R1354K; 12:45852184-45852184	skin	malignant_melanoma	Substitution - Missense
c.3799G>T; p.E1267*; 12:45851922-45851922	pancreas	carcinoma	Substitution - Nonsense
c.3438G>A; p.S1146S; 12:45851561-45851561	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.5305C>T; p.R1769*; 12:45893663-45893663	skin	malignant_melanoma	Substitution - Nonsense
c.3438G>A; p.S1146S; 12:45851561-45851561	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.5305C>T; p.R1769*; 12:45893663-45893663	liver	carcinoma	Substitution - Nonsense
c.3374delA; p.N1126fs*30; 12:45851497-45851497	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.335A>C; p.E112A; 12:45811468-45811468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1344T>C; p.C448C; 12:45839342-45839342	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.457delA; p.N153fs*62; 12:45817708-45817708	skin; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.5239G>T; p.G1747*; 12:45893511-45893511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1917C>T; p.I639I; 12:45850040-45850040	skin	malignant_melanoma	Substitution - coding silent
c.854G>A; p.R285Q; 12:45836822-45836822	breast	carcinoma	Substitution - Missense
c.854G>A; p.R285Q; 12:45836822-45836822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.854G>A; p.R285Q; 12:45836822-45836822	pancreas	carcinoma	Substitution - Missense
c.854G>A; p.R285Q; 12:45836822-45836822	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1716-2A>G; p.?; 12:45849578-45849578	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.854G>A; p.R285Q; 12:45836822-45836822	skin	malignant_melanoma	Substitution - Missense
c.3778G>T; p.E1260*; 12:45851901-45851901	skin	malignant_melanoma	Substitution - Nonsense
c.161T>C; p.V54A; 12:45730112-45730112	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1758C>T; p.S586S; 12:45849622-45849622	skin; abdomen	malignant_melanoma	Substitution - coding silent
c.3121C>T; p.Q1041*; 12:45851244-45851244	skin	malignant_melanoma	Substitution - Nonsense
c.3121C>T; p.Q1041*; 12:45851244-45851244	skin	malignant_melanoma	Substitution - Nonsense
c.706-1G>T; p.?; 12:45836588-45836588	lung	carcinoma; adenocarcinoma	Unknown
c.1507_1508insAG; p.A503fs*4; 12:45846864-45846865	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.103A>T; p.K35*; 12:45730054-45730054	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.103A>T; p.K35*; 12:45730054-45730054	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.1716-1G>A; p.?; 12:45849579-45849579	pancreas	carcinoma	Unknown
c.2872_2873insA; p.T959fs*9; 12:45850995-45850996	skin; trunk	malignant_melanoma	Insertion - Frameshift
c.1716-1G>A; p.?; 12:45849579-45849579	skin	malignant_melanoma	Unknown
c.1716-1G>A; p.?; 12:45849579-45849579	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.1716-1G>A; p.?; 12:45849579-45849579	pancreas	carcinoma	Unknown
c.2220G>C; p.Q740H; 12:45850343-45850343	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2872_2873insA; p.T959fs*9; 12:45850995-45850996	skin; trunk	malignant_melanoma	Insertion - Frameshift
c.1716-1G>A; p.?; 12:45849579-45849579	pancreas	carcinoma; ductal_carcinoma	Unknown
c.81delC; p.H28fs*30; 12:45729917-45729917	liver	carcinoma	Deletion - Frameshift
c.588T>C; p.D196D; 12:45817839-45817839	pancreas	carcinoma	Substitution - coding silent
c.535G>A; p.V179I; 12:45817786-45817786	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2438delC; p.S813fs*9; 12:45850561-45850561	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.3457G>T; p.G1153C; 12:45851580-45851580	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3023C>A; p.S1008Y; 12:45851146-45851146	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5183G>C; p.R1728T; 12:45893455-45893455	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2881C>T; p.Q961*; 12:45851004-45851004	skin	malignant_melanoma	Substitution - Nonsense
c.2881C>T; p.Q961*; 12:45851004-45851004	skin	malignant_melanoma	Substitution - Nonsense
c.1006G>T; p.G336*; 12:45836974-45836974	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1006G>T; p.G336*; 12:45836974-45836974	large_intestine; colon	carcinoma	Substitution - Nonsense
c.1006G>T; p.G336*; 12:45836974-45836974	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4196T>G; p.L1399*; 12:45852319-45852319	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1561G>T; p.E521*; 12:45846918-45846918	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.994C>T; p.L332F; 12:45836962-45836962	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2591C>T; p.A864V; 12:45850714-45850714	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1113G>C; p.K371N; 12:45837410-45837410	breast	carcinoma	Substitution - Missense
c.1397A>G; p.K466R; 12:45839395-45839395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5062G>A; p.D1688N; 12:45892011-45892011	skin	malignant_melanoma	Substitution - Missense
c.1795G>A; p.V599I; 12:45849659-45849659	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1397A>G; p.K466R; 12:45839395-45839395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1298G>T; p.C433F; 12:45837675-45837675	liver	carcinoma	Substitution - Missense
c.2969C>T; p.S990L; 12:45851092-45851092	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3806C>T; p.P1269L; 12:45851929-45851929	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.675G>A; p.W225*; 12:45821457-45821457	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2969C>T; p.S990L; 12:45851092-45851092	skin	malignant_melanoma	Substitution - Missense
c.2134G>T; p.E712*; 12:45850257-45850257	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.4427_4428insT; p.V1477fs*26; 12:45852550-45852551	liver	carcinoma	Insertion - Frameshift
c.2134G>T; p.E712*; 12:45850257-45850257	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.4060A>G; p.R1354G; 12:45852183-45852183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4060A>G; p.R1354G; 12:45852183-45852183	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4022C>G; p.S1341*; 12:45852145-45852145	breast	carcinoma	Substitution - Nonsense
c.1715+1G>A; p.?; 12:45848971-45848971	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.2357G>C; p.G786A; 12:45850480-45850480	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1419C>T; p.S473S; 12:45839417-45839417	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2392C>T; p.Q798*; 12:45850515-45850515	liver	carcinoma	Substitution - Nonsense
c.5062-1G>A; p.?; 12:45892010-45892010	kidney	carcinoma; papillary_renal_cell_carcinoma	Unknown
c.1715+1G>A; p.?; 12:45848971-45848971	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.2392C>T; p.Q798*; 12:45850515-45850515	liver	carcinoma	Substitution - Nonsense
c.4819C>T; p.P1607S; 12:45860846-45860846	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4819C>T; p.P1607S; 12:45860846-45860846	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1405G>T; p.E469*; 12:45839403-45839403	pancreas	carcinoma	Substitution - Nonsense
c.4929T>C; p.F1643F; 12:45891786-45891786	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.366T>G; p.L122L; 12:45811499-45811499	skin	malignant_melanoma	Substitution - coding silent
c.5459T>G; p.F1820C; 12:45905029-45905029	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1142T>A; p.L381H; 12:45837519-45837519	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.187-1G>A; p.?; 12:45731216-45731216	liver	carcinoma	Unknown
c.3286C>T; p.Q1096*; 12:45851409-45851409	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.739C>A; p.R247S; 12:45836622-45836622	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1928C>A; p.S643*; 12:45850051-45850051	liver	carcinoma	Substitution - Nonsense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4663G>T; p.A1555S; 12:45852786-45852786	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.430C>T; p.Q144*; 12:45817681-45817681	skin; nipple	malignant_melanoma	Substitution - Nonsense
c.2225C>T; p.S742F; 12:45850348-45850348	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.430C>T; p.Q144*; 12:45817681-45817681	breast	carcinoma	Substitution - Nonsense
c.1787T>A; p.V596E; 12:45849651-45849651	skin	malignant_melanoma	Substitution - Missense
c.266T>G; p.L89*; 12:45731296-45731296	liver	carcinoma	Substitution - Nonsense
c.1802G>A; p.R601Q; 12:45849666-45849666	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1972C>T; p.Q658*; 12:45850095-45850095	skin	malignant_melanoma	Substitution - Nonsense
c.1398A>G; p.K466K; 12:45839396-45839396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1398A>G; p.K466K; 12:45839396-45839396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1398A>G; p.K466K; 12:45839396-45839396	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3201A>G; p.K1067K; 12:45851324-45851324	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4068G>A; p.P1356P; 12:45852191-45852191	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1023G>C; p.E341D; 12:45836991-45836991	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.963T>C; p.H321H; 12:45836931-45836931	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.595A>G; p.I199V; 12:45817846-45817846	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1641T>C; p.S547S; 12:45848896-45848896	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2337A>T; p.V779V; 12:45850460-45850460	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2337A>T; p.V779V; 12:45850460-45850460	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.371T>G; p.I124S; 12:45811504-45811504	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4535_4545del11; p.C1512fs*1; 12:45852658-45852668	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2681A>G; p.Q894R; 12:45850804-45850804	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1354A>G; p.M452V; 12:45839352-45839352	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1867C>T; p.R623C; 12:45849731-45849731	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3127C>T; p.Q1043*; 12:45851250-45851250	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3127C>T; p.Q1043*; 12:45851250-45851250	skin; abdomen	malignant_melanoma	Substitution - Nonsense
c.1354A>G; p.M452V; 12:45839352-45839352	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4351C>T; p.P1451S; 12:45852474-45852474	skin	malignant_melanoma	Substitution - Missense
c.3817C>T; p.R1273*; 12:45851940-45851940	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3817C>T; p.R1273*; 12:45851940-45851940	liver	carcinoma	Substitution - Nonsense
c.3298C>G; p.Q1100E; 12:45851421-45851421	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3817C>T; p.R1273*; 12:45851940-45851940	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3817C>T; p.R1273*; 12:45851940-45851940	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.666_668delAGA; p.E224delE; 12:45821448-45821450	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.3817C>T; p.R1273*; 12:45851940-45851940	liver	carcinoma	Substitution - Nonsense
c.121G>C; p.G41R; 12:45730072-45730072	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.4150C>T; p.H1384Y; 12:45852273-45852273	skin	malignant_melanoma	Substitution - Missense
c.3095A>G; p.Q1032R; 12:45851218-45851218	pancreas	carcinoma	Substitution - Missense
c.2224T>C; p.S742P; 12:45850347-45850347	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3319G>A; p.A1107T; 12:45851442-45851442	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4065delA; p.K1355fs*3; 12:45852188-45852188	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.4096A>T; p.K1366*; 12:45852219-45852219	skin	malignant_melanoma	Substitution - Nonsense
c.721G>A; p.V241I; 12:45836604-45836604	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.723T>C; p.V241V; 12:45836606-45836606	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1189C>T; p.Q397*; 12:45837566-45837566	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.102_103insA; p.I37fs*29; 12:45730053-45730054	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.723T>C; p.V241V; 12:45836606-45836606	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.3396T>G; p.S1132R; 12:45851519-45851519	skin; back	malignant_melanoma	Substitution - Missense
c.597C>G; p.I199M; 12:45817848-45817848	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3010A>T; p.S1004C; 12:45851133-45851133	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3814C>T; p.R1272*; 12:45851937-45851937	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4511G>A; p.R1504Q; 12:45852634-45852634	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1259A>T; p.E420V; 12:45837636-45837636	pancreas	other; pancreatoblastoma	Substitution - Missense
c.5179C>T; p.P1727S; 12:45893451-45893451	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.479A>G; p.K160R; 12:45817730-45817730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4398_4416del19; p.V1467fs*12; 12:45852521-45852539	liver	carcinoma	Deletion - Frameshift
c.5431C>T; p.L1811F; 12:45905001-45905001	skin	malignant_melanoma	Substitution - Missense
c.2302G>T; p.V768L; 12:45850425-45850425	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.799G>T; p.E267*; 12:45836767-45836767	liver	carcinoma	Substitution - Nonsense
c.799G>T; p.E267*; 12:45836767-45836767	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1308T>A; p.I436I; 12:45837685-45837685	kidney	other; neoplasm	Substitution - coding silent
c.799G>T; p.E267*; 12:45836767-45836767	liver	carcinoma	Substitution - Nonsense
c.1277C>T; p.T426M; 12:45837654-45837654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.78C>G; p.F26L; 12:45729914-45729914	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4143T>G; p.T1381T; 12:45852266-45852266	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.803C>T; p.S268F; 12:45836771-45836771	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3536A>T; p.N1179I; 12:45851659-45851659	skin	malignant_melanoma	Substitution - Missense
c.1719G>T; p.T573T; 12:45849583-45849583	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4143T>G; p.T1381T; 12:45852266-45852266	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2977A>T; p.T993S; 12:45851100-45851100	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2037A>T; p.Q679H; 12:45850160-45850160	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2710C>T; p.Q904*; 12:45850833-45850833	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2710C>T; p.Q904*; 12:45850833-45850833	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3963A>T; p.L1321L; 12:45852086-45852086	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3877C>A; p.L1293I; 12:45852000-45852000	breast	carcinoma	Substitution - Missense
c.205_206insG; p.E71fs*4; 12:45731235-45731236	oesophagus	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3528T>C; p.V1176V; 12:45851651-45851651	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2814_2815insA; p.Y939fs*12; 12:45850937-45850938	pancreas	carcinoma	Insertion - Frameshift
c.2909C>T; p.P970L; 12:45851032-45851032	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2815_2816insA; p.Y939fs*1; 12:45850938-45850939	pancreas	carcinoma; ductal_carcinoma	Insertion - Frameshift
c.4444C>T; p.Q1482*; 12:45852567-45852567	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1625G>A; p.R542Q; 12:45848880-45848880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3203_3205delGTG; p.G1069delG; 12:45851326-45851328	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.4951T>C; p.Y1651H; 12:45891808-45891808	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5188C>T; p.Q1730*; 12:45893460-45893460	liver	carcinoma	Substitution - Nonsense
c.5188C>T; p.Q1730*; 12:45893460-45893460	liver	carcinoma	Substitution - Nonsense
c.74_75insA; p.F26fs*10; 12:45729910-45729911	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.4938C>T; p.P1646P; 12:45891795-45891795	liver	carcinoma	Substitution - coding silent
c.4938C>T; p.P1646P; 12:45891795-45891795	liver	carcinoma	Substitution - coding silent
c.4459C>A; p.P1487T; 12:45852582-45852582	skin	malignant_melanoma	Substitution - Missense
c.4925G>T; p.W1642L; 12:45891782-45891782	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2809C>T; p.Q937*; 12:45850932-45850932	skin	malignant_melanoma	Substitution - Nonsense
c.2809C>T; p.Q937*; 12:45850932-45850932	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4720G>T; p.V1574F; 12:45852843-45852843	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3952C>T; p.Q1318*; 12:45852075-45852075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2310A>T; p.P770P; 12:45850433-45850433	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4844T>G; p.F1615C; 12:45860871-45860871	liver	carcinoma	Substitution - Missense
c.3453G>A; p.L1151L; 12:45851576-45851576	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.865A>G; p.I289V; 12:45836833-45836833	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2817T>C; p.Y939Y; 12:45850940-45850940	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.755_756delAC; p.D252fs*6; 12:45836638-45836639	liver	carcinoma	Deletion - Frameshift
c.5435C>G; p.A1812G; 12:45905005-45905005	liver	carcinoma	Substitution - Missense
c.3370C>T; p.Q1124*; 12:45851493-45851493	liver	carcinoma	Substitution - Nonsense
c.3370C>T; p.Q1124*; 12:45851493-45851493	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1169T>A; p.L390*; 12:45837546-45837546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2356G>T; p.G786C; 12:45850479-45850479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2250G>T; p.G750G; 12:45850373-45850373	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.206G>A; p.W69*; 12:45731236-45731236	liver	carcinoma	Substitution - Nonsense
c.1331-1G>A; p.?; 12:45839328-45839328	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.577C>T; p.L193F; 12:45817828-45817828	skin	malignant_melanoma	Substitution - Missense
c.4946_4947delTT; p.F1650fs*6; 12:45891803-45891804	skin	malignant_melanoma	Deletion - Frameshift
c.5306G>A; p.R1769Q; 12:45893664-45893664	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3841G>T; p.G1281W; 12:45851964-45851964	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3987_3988ins16; p.L1330fs*3; 12:45852110-45852111	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.5174C>G; p.S1725*; 12:45893446-45893446	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3841G>T; p.G1281W; 12:45851964-45851964	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1700T>G; p.F567C; 12:45848955-45848955	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3496G>C; p.G1166R; 12:45851619-45851619	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4685C>T; p.P1562L; 12:45852808-45852808	skin	malignant_melanoma	Substitution - Missense
c.4993G>T; p.G1665W; 12:45891850-45891850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5174C>G; p.S1725*; 12:45893446-45893446	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.939T>A; p.L313L; 12:45836907-45836907	prostate	carcinoma	Substitution - coding silent
c.5199T>G; p.I1733M; 12:45893471-45893471	breast	carcinoma	Substitution - Missense
c.541A>G; p.T181A; 12:45817792-45817792	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2776G>T; p.V926L; 12:45850899-45850899	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3135G>A; p.S1045S; 12:45851258-45851258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2173C>T; p.Q725*; 12:45850296-45850296	pancreas	carcinoma	Substitution - Nonsense
c.5393C>G; p.S1798*; 12:45904963-45904963	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1126G>A; p.E376K; 12:45837503-45837503	central_nervous_system; brain	glioma	Substitution - Missense
c.4003G>T; p.A1335S; 12:45852126-45852126	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4413_4419delACATTCT; p.H1472fs*11; 12:45852536-45852542	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1787T>C; p.V596A; 12:45849651-45849651	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3238C>T; p.P1080S; 12:45851361-45851361	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2173C>T; p.Q725*; 12:45850296-45850296	skin	malignant_melanoma	Substitution - Nonsense
c.2145_2146GG>AA; p.A716T; 12:45850268-45850269	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.620C>T; p.A207V; 12:45817871-45817871	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4039C>T; p.Q1347*; 12:45852162-45852162	skin	malignant_melanoma	Substitution - Nonsense
c.2292_2313del22; p.H765fs*20; 12:45850415-45850436	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2611C>T; p.Q871*; 12:45850734-45850734	skin	malignant_melanoma	Substitution - Nonsense
c.186+1G>A; p.?; 12:45730138-45730138	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2611C>T; p.Q871*; 12:45850734-45850734	skin; neck	malignant_melanoma	Substitution - Nonsense
c.1120G>C; p.G374R; 12:45837417-45837417	liver	carcinoma	Substitution - Missense
c.1120G>C; p.G374R; 12:45837417-45837417	skin	malignant_melanoma	Substitution - Missense
c.1062G>A; p.L354L; 12:45837359-45837359	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1062G>A; p.L354L; 12:45837359-45837359	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2110C>T; p.Q704*; 12:45850233-45850233	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1073C>G; p.T358S; 12:45837370-45837370	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.400C>T; p.Q134*; 12:45811533-45811533	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1638T>G; p.Y546*; 12:45848893-45848893	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2110C>T; p.Q704*; 12:45850233-45850233	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.3208C>T; p.P1070S; 12:45851331-45851331	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2610_2611insT; p.Q871fs*80; 12:45850733-45850734	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Insertion - Frameshift
c.2542_2543insT; p.A849fs*102; 12:45850665-45850666	liver	carcinoma; hepatocellular_carcinoma	Insertion - Frameshift
c.647C>T; p.S216F; 12:45821429-45821429	skin	malignant_melanoma	Substitution - Missense
c.3795C>A; p.V1265V; 12:45851918-45851918	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1331-1G>T; p.?; 12:45839328-45839328	lung	carcinoma; adenocarcinoma	Unknown
c.2877A>T; p.T959T; 12:45851000-45851000	liver	carcinoma	Substitution - coding silent
c.1125delG; p.E376fs*15; 12:45837502-45837502	liver	carcinoma	Deletion - Frameshift
c.1672C>T; p.R558C; 12:45848927-45848927	skin	malignant_melanoma	Substitution - Missense
c.2567C>T; p.T856I; 12:45850690-45850690	skin	malignant_melanoma	Substitution - Missense
c.2952C>T; p.V984V; 12:45851075-45851075	skin	malignant_melanoma	Substitution - coding silent
c.1418C>A; p.S473Y; 12:45839416-45839416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4831C>T; p.Q1611*; 12:45860858-45860858	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.853C>T; p.R285W; 12:45836821-45836821	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.853C>T; p.R285W; 12:45836821-45836821	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.853C>T; p.R285W; 12:45836821-45836821	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4463_4475del13; p.D1488fs*24; 12:45852586-45852598	skin	malignant_melanoma	Deletion - Frameshift
c.4146C>T; p.S1382S; 12:45852269-45852269	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3414G>T; p.G1138G; 12:45851537-45851537	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.5487A>C; p.K1829N; 12:45905057-45905057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5281G>T; p.E1761*; 12:45893639-45893639	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1912+1G>T; p.?; 12:45849777-45849777	lung	carcinoma; adenocarcinoma	Unknown
c.2890G>T; p.G964*; 12:45851013-45851013	skin	malignant_melanoma	Substitution - Nonsense
c.4508delT; p.R1504fs*12; 12:45852631-45852631	liver	carcinoma	Deletion - Frameshift
c.1837C>T; p.Q613*; 12:45849701-45849701	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.2865delA; p.A956fs*7; 12:45850988-45850988	liver	carcinoma	Deletion - Frameshift
c.3931A>G; p.K1311E; 12:45852054-45852054	breast	carcinoma	Substitution - Missense
c.2358C>T; p.G786G; 12:45850481-45850481	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1426C>T; p.Q476*; 12:45839424-45839424	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3612C>T; p.S1204S; 12:45851735-45851735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2776G>A; p.V926I; 12:45850899-45850899	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.4304C>T; p.S1435L; 12:45852427-45852427	breast	carcinoma	Substitution - Missense
c.200delA; p.N67fs*23; 12:45731230-45731230	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.4198G>T; p.D1400Y; 12:45852321-45852321	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.740G>A; p.R247H; 12:45836623-45836623	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5237G>A; p.R1746K; 12:45893509-45893509	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.649delT; p.S218fs*74; 12:45821431-45821431	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.5126G>A; p.G1709E; 12:45892075-45892075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3629T>C; p.V1210A; 12:45851752-45851752	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.78delC; p.H27fs*31; 12:45729914-45729914	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.2011G>A; p.V671I; 12:45850134-45850134	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4558G>T; p.E1520*; 12:45852681-45852681	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3580C>T; p.Q1194*; 12:45851703-45851703	skin	malignant_melanoma	Substitution - Nonsense
c.1037C>T; p.P346L; 12:45837334-45837334	liver	carcinoma	Substitution - Missense
c.3044A>C; p.Q1015P; 12:45851167-45851167	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1037C>T; p.P346L; 12:45837334-45837334	liver	carcinoma	Substitution - Missense
c.4923-1G>C; p.?; 12:45891779-45891779	stomach	carcinoma; adenocarcinoma	Unknown
c.4878delA; p.K1627fs*74; 12:45860905-45860905	liver	carcinoma	Deletion - Frameshift
c.1616C>A; p.S539Y; 12:45848871-45848871	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4043A>T; p.D1348V; 12:45852166-45852166	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1337T>A; p.L446*; 12:45839335-45839335	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2817T>G; p.Y939*; 12:45850940-45850940	central_nervous_system; brain	glioma	Substitution - Nonsense
c.2909C>G; p.P970R; 12:45851032-45851032	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1100A>T; p.D367V; 12:45837397-45837397	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1023+6C>A; p.?; 12:45836997-45836997	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.4794A>T; p.S1598S; 12:45860821-45860821	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2297C>A; p.P766Q; 12:45850420-45850420	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.220G>T; p.E74*; 12:45731250-45731250	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1264C>A; p.L422I; 12:45837641-45837641	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.4017G>T; p.Q1339H; 12:45852140-45852140	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2740C>T; p.P914S; 12:45850863-45850863	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.521A>G; p.D174G; 12:45817772-45817772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3493C>T; p.Q1165*; 12:45851616-45851616	skin; scalp	malignant_melanoma	Substitution - Nonsense
c.3493C>T; p.Q1165*; 12:45851616-45851616	skin; upper_leg	malignant_melanoma	Substitution - Nonsense
c.4688G>C; p.S1563T; 12:45852811-45852811	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.484G>T; p.V162L; 12:45817735-45817735	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1716-9A>G; p.?; 12:45849571-45849571	liver	carcinoma	Unknown
c.4888C>T; p.Q1630*; 12:45860915-45860915	liver	carcinoma	Substitution - Nonsense
c.2101A>T; p.T701S; 12:45850224-45850224	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4888C>T; p.Q1630*; 12:45860915-45860915	liver	carcinoma	Substitution - Nonsense
c.5328delA; p.N1778fs*13; 12:45893686-45893686	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.551C>G; p.S184*; 12:45817802-45817802	liver	carcinoma	Substitution - Nonsense
c.5328delA; p.N1778fs*13; 12:45893686-45893686	liver	carcinoma	Deletion - Frameshift
c.899A>T; p.E300V; 12:45836867-45836867	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2947C>T; p.Q983*; 12:45851070-45851070	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1330G>T; p.D444Y; 12:45837707-45837707	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1330G>T; p.D444Y; 12:45837707-45837707	liver	carcinoma	Substitution - Missense
c.1330G>T; p.D444Y; 12:45837707-45837707	liver	carcinoma	Substitution - Missense
c.478A>G; p.K160E; 12:45817729-45817729	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4496T>C; p.L1499P; 12:45852619-45852619	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.859C>A; p.L287I; 12:45836827-45836827	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5042C>T; p.S1681F; 12:45891899-45891899	skin	malignant_melanoma	Substitution - Missense
c.4613delT; p.I1538fs*28; 12:45852736-45852736	liver	carcinoma	Deletion - Frameshift
c.1552_1555delATAG; p.D519fs*9; 12:45846909-45846912	large_intestine; colon	NS	Deletion - Frameshift
c.3617C>T; p.T1206M; 12:45851740-45851740	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1868G>T; p.R623L; 12:45849732-45849732	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2128C>T; p.P710S; 12:45850251-45850251	skin	malignant_melanoma	Substitution - Missense
c.1231G>T; p.D411Y; 12:45837608-45837608	liver	carcinoma	Substitution - Missense
c.821G>A; p.R274Q; 12:45836789-45836789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1201_1202delAG; p.E402fs*9; 12:45837578-45837579	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.93-1G>A; p.?; 12:45730043-45730043	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2128C>T; p.P710S; 12:45850251-45850251	skin	malignant_melanoma	Substitution - Missense
c.1231G>T; p.D411Y; 12:45837608-45837608	liver	carcinoma	Substitution - Missense
c.3430C>T; p.P1144S; 12:45851553-45851553	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2128C>T; p.P710S; 12:45850251-45850251	skin; face	malignant_melanoma	Substitution - Missense
c.940C>A; p.R314S; 12:45836908-45836908	pancreas	carcinoma	Substitution - Missense
c.5110G>T; p.E1704*; 12:45892059-45892059	liver	carcinoma	Substitution - Nonsense
c.1433T>A; p.L478*; 12:45839431-45839431	liver	carcinoma	Substitution - Nonsense
c.940C>A; p.R314S; 12:45836908-45836908	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.5110G>T; p.E1704*; 12:45892059-45892059	liver	carcinoma	Substitution - Nonsense
c.3734A>G; p.Q1245R; 12:45851857-45851857	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2864C>T; p.P955L; 12:45850987-45850987	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.586G>T; p.D196Y; 12:45817837-45817837	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3831C>T; p.N1277N; 12:45851954-45851954	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4583C>T; p.A1528V; 12:45852706-45852706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4190_4191insGACT; p.L1399fs*13; 12:45852313-45852314	liver	carcinoma	Insertion - Frameshift
c.2239C>T; p.H747Y; 12:45850362-45850362	skin	malignant_melanoma	Substitution - Missense
c.551C>A; p.S184*; 12:45817802-45817802	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.551C>A; p.S184*; 12:45817802-45817802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2983_2984insA; p.S996fs*61; 12:45851106-45851107	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2140G>T; p.V714F; 12:45850263-45850263	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1567T>G; p.F523V; 12:45846924-45846924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2276C>T; p.S759F; 12:45850399-45850399	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1463A>G; p.Q488R; 12:45839461-45839461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5147+3A>C; p.?; 12:45892099-45892099	liver	carcinoma	Unknown
c.1691C>T; p.S564L; 12:45848946-45848946	liver	carcinoma	Substitution - Missense
c.1547T>C; p.V516A; 12:45846904-45846904	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4052G>T; p.S1351I; 12:45852175-45852175	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1716-2A>T; p.?; 12:45849578-45849578	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.65A>G; p.E22G; 12:45729901-45729901	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3965delT; p.I1322fs*9; 12:45852088-45852088	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1691C>T; p.S564L; 12:45848946-45848946	liver	carcinoma	Substitution - Missense
c.3256delC; p.P1087fs*69; 12:45851379-45851379	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1024-2A>C; p.?; 12:45837319-45837319	pancreas	carcinoid-endocrine_tumour	Unknown
c.2802A>G; p.Q934Q; 12:45850925-45850925	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2802A>G; p.Q934Q; 12:45850925-45850925	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.587A>C; p.D196A; 12:45817838-45817838	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1814C>A; p.P605Q; 12:45849678-45849678	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1177G>T; p.E393*; 12:45837554-45837554	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.2003C>A; p.S668Y; 12:45850126-45850126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1177G>T; p.E393*; 12:45837554-45837554	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.3648G>A; p.T1216T; 12:45851771-45851771	liver	carcinoma	Substitution - coding silent
c.3648G>A; p.T1216T; 12:45851771-45851771	liver	carcinoma	Substitution - coding silent
c.1177G>T; p.E393*; 12:45837554-45837554	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4573_4576GAAA>GAA; p.E1525fs; 12:45852696-45852699	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.4573_4576GAAA>GAA; p.E1525fs; 12:45852696-45852699	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.2325A>T; p.L775F; 12:45850448-45850448	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4753_4756delGTAC; p.V1585fs*40; 12:45852876-45852879	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1119A>C; p.R373S; 12:45837416-45837416	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.811C>T; p.H271Y; 12:45836779-45836779	skin	malignant_melanoma	Substitution - Missense
c.1135G>C; p.G379R; 12:45837512-45837512	central_nervous_system; brain	glioma	Substitution - Missense
c.3859G>A; p.E1287K; 12:45851982-45851982	breast	carcinoma	Substitution - Missense
c.527_546del20; p.N178fs*2; 12:45817778-45817797	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Deletion - Frameshift
c.4207C>T; p.Q1403*; 12:45852330-45852330	pancreas	carcinoma	Substitution - Nonsense
c.2045C>G; p.S682*; 12:45850168-45850168	liver	carcinoma	Substitution - Nonsense
c.3844G>C; p.D1282H; 12:45851967-45851967	liver	carcinoma	Substitution - Missense
c.3844G>C; p.D1282H; 12:45851967-45851967	liver	carcinoma	Substitution - Missense
c.482T>A; p.L161*; 12:45817733-45817733	lung	carcinoma; adenocarcinoma	Substitution - Nonsense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation