Entrez Gene

Basic Information
Gene ID	238
Name	ALK
Synonymous	CD246\|NBLST3;anaplastic lymphoma receptor tyrosine kinase;ALK;anaplastic lymphoma receptor tyrosine kinase
Definition	ALK tyrosine kinase receptor\|CD246 antigen\|mutant anaplastic lymphoma kinase
Position	2p23
Gene Type	protein-coding
Gene Mutation:	PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation

PCGP germline mutation [Top]
	There is no record for ALK

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP somatic mutation [Top]
ALK_P1445H; chr2; 29416619	SUB; MISSENSE; G; G/T; SOMATIC	RHB; VALID; WGS
ALK_P1445H; chr2; 29416619	SUB; MISSENSE; G; G/T; SOMATIC	RHB; VALID; WGS
ALK_P1445H; chr2; 29416619	SUB; MISSENSE; G; G/T; SOMATIC	RHB; PUTATIVE-HQ; EXOME
ALK_P1445H; chr2; 29416619	SUB; MISSENSE; G; G/T; SOMATIC	RHB; PUTATIVE-HQ; WGS

Mutation (CDS; AA; Chr)	Site	Histology
COSMIC somatic mutation [Top]
c.3433delC; p.L1145fs*5;	liver	carcinoma; hepatocellular_carcinoma
c.1753G>A; p.A585T;	large_intestine	carcinoma; adenocarcinoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.1178T>A; p.I393N;	breast	carcinoma; ER-PR-positive_carcinoma
c.1374C>G; p.H458Q;	breast	carcinoma; ER-PR-positive_carcinoma
c.1680G>A; p.L560L;	breast	carcinoma; HER-positive_carcinoma
c.701C>A; p.P234H;	liver	carcinoma; hepatocellular_carcinoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.1347C>A; p.L449L;	lung	carcinoma; squamous_cell_carcinoma
c.849C>G; p.L283L;	lung	carcinoma; squamous_cell_carcinoma
c.1032C>T; p.H344H;	lung	carcinoma; squamous_cell_carcinoma
c.3520T>A; p.F1174I; 2:29297201-29297201	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3733T>A; p.F1245I; 2:29290364-29290364	autonomic_ganglia	neuroblastoma
c.3735C>A; p.F1245L; 2:29290362-29290362	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3182G>A; p.R1061Q; 2:29299889-29299889	autonomic_ganglia	neuroblastoma
c.3633C>A; p.T1211T; 2:29297088-29297088	autonomic_ganglia	neuroblastoma
c.3633C>A; p.T1211T; 2:29297088-29297088	autonomic_ganglia	neuroblastoma
c.3633C>A; p.T1211T; 2:29297088-29297088	autonomic_ganglia	neuroblastoma
c.3515+18C>T; p.?; 2:29298696-29298696	autonomic_ganglia	neuroblastoma
c.3515+18C>T; p.?; 2:29298696-29298696	autonomic_ganglia	neuroblastoma
c.3515+18C>T; p.?; 2:29298696-29298696	autonomic_ganglia	neuroblastoma
c.3515+18C>T; p.?; 2:29298696-29298696	autonomic_ganglia	neuroblastoma
c.3515+18C>T; p.?; 2:29298696-29298696	autonomic_ganglia	neuroblastoma
c.3497T>G; p.M1166R; 2:29298732-29298732	autonomic_ganglia	neuroblastoma
c.3512T>A; p.I1171N; 2:29298717-29298717	autonomic_ganglia	neuroblastoma
c.3512T>A; p.I1171N; 2:29298717-29298717	autonomic_ganglia	neuroblastoma
c.3520T>A; p.F1174I; 2:29297201-29297201	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3733T>G; p.F1245V; 2:29290364-29290364	autonomic_ganglia	neuroblastoma
c.3734T>G; p.F1245C; 2:29290363-29290363	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3521T>C; p.F1174S; 2:29297200-29297200	autonomic_ganglia; adrenal_gland	neuroblastoma
c.?; p.R1275?;	autonomic_ganglia	neuroblastoma
c.?; p.R1275?;	autonomic_ganglia	neuroblastoma
c.?; p.R1275?;	autonomic_ganglia	neuroblastoma
c.?; p.R1275?;	autonomic_ganglia	neuroblastoma
c.?; p.R1275?;	autonomic_ganglia	neuroblastoma
c.?; p.R1275?;	autonomic_ganglia	neuroblastoma
c.?; p.R1275?;	autonomic_ganglia	neuroblastoma
c.?; p.R1275?;	autonomic_ganglia	neuroblastoma
c.?; p.R1275?;	autonomic_ganglia	neuroblastoma
c.?; p.R1275?;	autonomic_ganglia	neuroblastoma
c.?; p.F1174?;	autonomic_ganglia	neuroblastoma
c.?; p.F1174?;	autonomic_ganglia	neuroblastoma
c.?; p.F1174?;	autonomic_ganglia	neuroblastoma
c.?; p.F1174?;	autonomic_ganglia	neuroblastoma
c.?; p.F1174?;	autonomic_ganglia	neuroblastoma
c.?; p.Y1278S;	autonomic_ganglia	neuroblastoma
c.?; p.R1231Q;	autonomic_ganglia	neuroblastoma
c.3592C>T; p.L1198F; 2:29297129-29297129	thyroid	carcinoma; anaplastic_carcinoma
c.3602G>A; p.G1201E; 2:29297119-29297119	thyroid	carcinoma; anaplastic_carcinoma
c.3455T>G; p.L1152R; 2:29298774-29298774	lung	carcinoma; non_small_cell_carcinoma
c.3383G>C; p.G1128A; 2:29298954-29298954	autonomic_ganglia	neuroblastoma
c.3509T>C; p.I1170T; 2:29298720-29298720	autonomic_ganglia	neuroblastoma
c.3509T>G; p.I1170S; 2:29298720-29298720	autonomic_ganglia	neuroblastoma
c.3452C>T; p.T1151M; 2:29298777-29298777	autonomic_ganglia	neuroblastoma
c.3452C>T; p.T1151M; 2:29298777-29298777	autonomic_ganglia	neuroblastoma
c.3521T>G; p.F1174C; 2:29297200-29297200	autonomic_ganglia	neuroblastoma
c.3522C>G; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>G; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3733T>G; p.F1245V; 2:29290364-29290364	autonomic_ganglia	neuroblastoma
c.3718T>G; p.L1240V; 2:29290379-29290379	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3467G>A; p.C1156Y; 2:29298762-29298762	lung	carcinoma; adenocarcinoma
c.3586C>A; p.L1196M; 2:29297135-29297135	lung	carcinoma; adenocarcinoma
c.3521T>G; p.F1174C; 2:29297200-29297200	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3521T>G; p.F1174C; 2:29297200-29297200	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3734T>G; p.F1245C; 2:29290363-29290363	autonomic_ganglia	neuroblastoma
c.3733T>G; p.F1245V; 2:29290364-29290364	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3745_3746delGA; p.D1249fs*35; 2:29286246-29286247	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal
c.3673G>A; p.D1225N; 2:29290424-29290424	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal
c.3617C>A; p.S1206Y; 2:29297104-29297104	lung	carcinoma; adenocarcinoma
c.3604G>A; p.G1202R; 2:29297117-29297117	lung	carcinoma; adenocarcinoma
c.3586C>A; p.L1196M; 2:29297135-29297135	lung	carcinoma; adenocarcinoma
c.3453_3454insACG; p.T1151_L1152insT; 2:29298775-29298776	lung	carcinoma; adenocarcinoma
c.3404T>A; p.V1135E; 2:29298933-29298933	lung	carcinoma; adenocarcinoma
c.1487C>T; p.P496L; 2:29397180-29397180	lung	carcinoma; adenocarcinoma
c.1892G>T; p.S631I; 2:29351792-29351792	lung	carcinoma; adenocarcinoma
c.3522C>G; p.F1174L; 2:29297199-29297199	soft_tissue; fibrous_tissue_and_uncertain_o	inflammatory_myofibroblastic_tumour
c.1625C>G; p.P542R; 2:29394696-29394696	lung	carcinoma; adenocarcinoma
c.?; p.F1245I;	autonomic_ganglia	neuroblastoma
c.?; p.R1275Q;	autonomic_ganglia	neuroblastoma
c.?; p.F1174L;	autonomic_ganglia	ganglioneuroblastoma
c.?; p.R1275Q;	autonomic_ganglia	ganglioneuroblastoma
c.4762C>A; p.Q1588K;	liver	carcinoma; hepatocellular_carcinoma
c.3806G>C; p.G1269A; 2:29286186-29286186	lung	carcinoma; adenocarcinoma
c.3586C>A; p.L1196M; 2:29297135-29297135	lung	carcinoma; adenocarcinoma
c.3806G>C; p.G1269A; 2:29286186-29286186	lung	carcinoma; non_small_cell_carcinoma
c.3586C>A; p.L1196M; 2:29297135-29297135	lung	carcinoma; adenocarcinoma
c.3806G>C; p.G1269A; 2:29286186-29286186	lung	carcinoma; non_small_cell_carcinoma
c.3467G>A; p.C1156Y; 2:29298762-29298762	lung	carcinoma; non_small_cell_carcinoma
c.3586C>A; p.L1196M; 2:29297135-29297135	lung	carcinoma; non_small_cell_carcinoma
c.3635G>A; p.R1212H;	skin; upper_back	malignant_melanoma
c.3551G>A; p.G1184E; 2:29297170-29297170	thymus	thymic_carcinoma; squamous_cell_carcinoma
c.3830T>C; p.I1277T; 2:29286162-29286162	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal
c.3824G>A; p.R1275Q; 2:29286168-29286168	breast	carcinoma
c.3626G>A; p.R1209Q;	stomach	carcinoma; intestinal_adenocarcinoma
c.4409_4422delCCGTGGAAGGGGGA; p.V1471fs*45;	pancreas	carcinoid-endocrine_tumour; islet_cell
c.986C>T; p.S329F;	skin; upper_arm	malignant_melanoma
c.2431G>A; p.V811M;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.2431G>A; p.V811M;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.3661C>T; p.L1221L;	NS	malignant_melanoma
c.3661C>T; p.L1221L;	NS	malignant_melanoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3700G>A; p.A1234T; 2:29290397-29290397	autonomic_ganglia	neuroblastoma
c.1226G>T; p.S409I;	lung	carcinoma; small_cell_carcinoma
c.3469T>A; p.S1157T;	lung	carcinoma; small_cell_carcinoma
c.1201C>T; p.R401*; 2:29460183-29460183	large_intestine; colon	carcinoma; adenocarcinoma
c.1753G>A; p.A585T;	large_intestine; colon	carcinoma; adenocarcinoma
c.2306A>G; p.D769G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1652G>A; p.R551Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.872G>A; p.R291H;	large_intestine; colon	carcinoma; adenocarcinoma
c.562C>T; p.R188C;	large_intestine; colon	carcinoma; adenocarcinoma
c.536G>A; p.R179H;	large_intestine; colon	carcinoma; adenocarcinoma
c.600A>T; p.R200S;	large_intestine; colon	carcinoma; adenocarcinoma
c.174C>A; p.F58L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1651C>T; p.R551*;	large_intestine; colon	carcinoma; adenocarcinoma
c.4791T>A; p.T1597T;	lung	carcinoma; squamous_cell_carcinoma
c.1562T>C; p.L521P;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma
c.1997C>T; p.P666L;	skin; shoulder	malignant_melanoma
c.?; p.F1174L;	autonomic_ganglia	neuroblastoma
c.3087A>C; p.P1029P;	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing
c.3625C>T; p.R1209*;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.3625C>T; p.R1209*;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3733T>G; p.F1245V; 2:29290364-29290364	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3520T>C; p.F1174L; 2:29297201-29297201	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3520T>G; p.F1174V; 2:29297201-29297201	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3520T>C; p.F1174L; 2:29297201-29297201	autonomic_ganglia	neuroblastoma
c.932G>A; p.R311H;	autonomic_ganglia	neuroblastoma
c.3521T>G; p.F1174C; 2:29297200-29297200	autonomic_ganglia	neuroblastoma
c.2424C>T; p.N808N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.626G>A; p.R209H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1603A>C; p.T535P;	oesophagus	carcinoma; adenocarcinoma
c.3910G>T; p.G1304*;	oesophagus	carcinoma; adenocarcinoma
c.3413T>A; p.M1138K;	oesophagus	carcinoma; adenocarcinoma
c.4573_4575delAAG; p.K1525delK;	oesophagus	carcinoma; adenocarcinoma
c.3420C>T; p.N1140N;	oesophagus	carcinoma; adenocarcinoma
c.2243A>C; p.K748T;	oesophagus	carcinoma; adenocarcinoma
c.3803T>G; p.I1268S;	oesophagus; lower_third	carcinoma; adenocarcinoma
c.1301A>C; p.K434T;	oesophagus	carcinoma; adenocarcinoma
c.4657G>A; p.A1553T;	oesophagus	carcinoma; adenocarcinoma
c.574G>A; p.E192K;	oesophagus	carcinoma; adenocarcinoma
c.1917C>T; p.S639S;	oesophagus	carcinoma; adenocarcinoma
c.1184G>A; p.R395H;	oesophagus	carcinoma; squamous_cell_carcinoma
c.3036G>A; p.T1012T;	stomach	carcinoma; adenocarcinoma
c.2535T>C; p.G845G;	stomach	carcinoma; adenocarcinoma
c.?; p.R1275Q;	autonomic_ganglia	neuroblastoma
c.4280C>T; p.S1427F;	liver	carcinoma
c.192C>T; p.F64F;	liver	carcinoma
c.1626G>C; p.P542P;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.3502G>C; p.A1168P; 2:29298727-29298727	large_intestine; colon	carcinoma; adenocarcinoma
c.3587T>A; p.L1196Q; 2:29297134-29297134	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; anaplastic_large_cell_lymphoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.?; p.F1174L;	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3892C>T; p.P1298S;	large_intestine; colon	carcinoma; adenocarcinoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.?; p.F1174L;	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.?; p.R1275Q;	autonomic_ganglia	neuroblastoma
c.?; p.R1275Q;	autonomic_ganglia	neuroblastoma
c.3271G>A; p.D1091N; 2:29299800-29299800	autonomic_ganglia	neuroblastoma
c.3271G>A; p.D1091N; 2:29299800-29299800	autonomic_ganglia	neuroblastoma
c.?; p.D1091N;	autonomic_ganglia	neuroblastoma
c.3271G>A; p.D1091N; 2:29299800-29299800	autonomic_ganglia	neuroblastoma
c.932G>T; p.R311L;	lung	carcinoma; adenocarcinoma
c.3606A>G; p.G1202G;	lung	carcinoma; adenocarcinoma
c.741G>T; p.W247C;	lung	carcinoma; adenocarcinoma
c.1546+1G>T; p.?;	lung	carcinoma; adenocarcinoma
c.880C>A; p.P294T;	lung	carcinoma; adenocarcinoma
c.2560G>A; p.D854N;	lung	carcinoma; adenocarcinoma
c.1996C>T; p.P666S;	lung	carcinoma; adenocarcinoma
c.740G>C; p.W247S;	lung	carcinoma; adenocarcinoma
c.2025delC; p.I676fs*35;	lung	carcinoma; adenocarcinoma
c.186G>C; p.S62S;	lung	carcinoma; adenocarcinoma
c.206G>A; p.R69Q;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia
c.619G>A; p.A207T;	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.206G>A; p.R69Q;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia
c.1669C>T; p.R557C;	NS	malignant_melanoma
c.4436C>A; p.A1479E;	large_intestine; rectum	adenoma
c.2269G>A; p.V757M; 2:29316136-29316136	large_intestine; colon	carcinoma; adenocarcinoma
c.1202G>A; p.R401Q; 2:29460182-29460182	large_intestine; colon	carcinoma; adenocarcinoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3497_3498TG>AT; p.M1166>?;	autonomic_ganglia	neuroblastoma
c.3520T>G; p.F1174V; 2:29297201-29297201	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.?; p.F1174L;	autonomic_ganglia	neuroblastoma
c.?; p.F1174L;	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3512T>A; p.I1171N; 2:29298717-29298717	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3833A>C; p.Y1278S; 2:29286159-29286159	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>T; p.R1275L; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3733T>A; p.F1245I; 2:29290364-29290364	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3521T>G; p.F1174C; 2:29297200-29297200	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3520T>G; p.F1174V; 2:29297201-29297201	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3520T>C; p.F1174L; 2:29297201-29297201	autonomic_ganglia; mediastinum	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; paraspinal	neuroblastoma
c.3733T>G; p.F1245V; 2:29290364-29290364	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; mediastinum	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; adrenal_gland	neuroblastoma
c.?; p.F1174L;	autonomic_ganglia	neuroblastoma
c.3733T>A; p.F1245I; 2:29290364-29290364	autonomic_ganglia; mediastinum	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3746A>G; p.D1249G; 2:29286246-29286246	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3521T>C; p.F1174S; 2:29297200-29297200	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3824G>T; p.R1275L; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; mediastinum	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3735C>A; p.F1245L; 2:29290362-29290362	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; cervical	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; retroperitoneum	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3520T>C; p.F1174L; 2:29297201-29297201	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia; retroperitoneum	neuroblastoma
c.3735C>A; p.F1245L; 2:29290362-29290362	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3521T>G; p.F1174C; 2:29297200-29297200	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3734T>G; p.F1245C; 2:29290363-29290363	autonomic_ganglia; retroperitoneum	neuroblastoma
c.3520T>C; p.F1174L; 2:29297201-29297201	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3520T>C; p.F1174L; 2:29297201-29297201	autonomic_ganglia; adrenal_gland	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.866C>A; p.S289Y;	lung	carcinoma; bronchioloalveolar_adenocarcinoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3521T>G; p.F1174C; 2:29297200-29297200	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3520T>G; p.F1174V; 2:29297201-29297201	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3735C>G; p.F1245L; 2:29290362-29290362	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>G; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.1680G>C; p.L560F; 2:29373395-29373395	breast	carcinoma; lobular_carcinoma
c.1201C>T; p.R401*; 2:29460183-29460183	ovary	carcinoma; mucinous_carcinoma
c.2629G>T; p.A877S; 2:29308677-29308677	ovary	carcinoma; serous_carcinoma
c.786T>C; p.Y262Y; 2:29793949-29793949	lung	carcinoma; large_cell_carcinoma
c.2418T>G; p.R806R;	breast	carcinoma; ductal_carcinoma
c.4255G>A; p.E1419K;	breast	carcinoma
c.4862G>A; p.1621;	breast	carcinoma
c.2494G>C; p.D832H;	NS	NS
c.1453G>A; p.G485S;	liver	carcinoma
c.1818-9T>A; p.?;	liver	carcinoma
c.3922T>C; p.S1308P;	liver	carcinoma
c.1626G>C; p.P542P;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.787+1G>A; p.?;	lung	carcinoma; small_cell_carcinoma
c.3599C>T; p.A1200V;	lung	carcinoma; small_cell_carcinoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3185A>T; p.K1062M; 2:29299886-29299886	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.?; p.R1275Q;	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.?; p.F1174L;	autonomic_ganglia	neuroblastoma
c.?; p.F1174L;	autonomic_ganglia	neuroblastoma
c.4237G>C; p.V1413L;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.?; p.F1174L;	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3806G>C; p.G1269A; 2:29286186-29286186	lung	carcinoma; non_small_cell_carcinoma
c.?; p.F1174L;	autonomic_ganglia	neuroblastoma
c.3512_3513TC>AT; p.I1171N; 2:29298716-29298717	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; anaplastic_large_cell_lymphoma
c.3520T>A; p.F1174I; 2:29297201-29297201	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3522C>G; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3520T>C; p.F1174L; 2:29297201-29297201	autonomic_ganglia	neuroblastoma
c.3521T>G; p.F1174C; 2:29297200-29297200	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3521T>G; p.F1174C; 2:29297200-29297200	autonomic_ganglia	neuroblastoma
c.3824G>T; p.R1275L; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.3718T>G; p.L1240V; 2:29290379-29290379	autonomic_ganglia	neuroblastoma
c.3522C>A; p.F1174L; 2:29297199-29297199	autonomic_ganglia	neuroblastoma
c.4836G>A; p.K1612K; 2:29269621-29269621	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.4836G>A; p.K1612K; 2:29269621-29269621	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.238C>A; p.L80M;	lung	carcinoma; adenocarcinoma
c.1735A>C; p.R579R;	lung	carcinoma; adenocarcinoma
c.3305C>T; p.T1102I;	lung	carcinoma; adenocarcinoma
c.393C>T; p.S131S;	lung	carcinoma; adenocarcinoma
c.788-1_788GG>AT; p.?;	lung	carcinoma; adenocarcinoma
c.4183A>T; p.T1395S;	ovary	carcinoma; serous_carcinoma
c.4462G>A; p.E1488K;	lung	carcinoma; squamous_cell_carcinoma
c.2416C>G; p.R806G;	lung	carcinoma; squamous_cell_carcinoma
c.1026T>C; p.S342S;	ovary	carcinoma; serous_carcinoma
c.1053G>T; p.V351V;	lung	carcinoma; squamous_cell_carcinoma
c.867C>T; p.S289S;	lung	carcinoma; squamous_cell_carcinoma
c.675C>A; p.S225R; 2:29794060-29794060	ovary	carcinoma; serous_carcinoma
c.192C>A; p.F64L;	ovary	carcinoma; serous_carcinoma
c.3336G>A; p.P1112P;	ovary	carcinoma; serous_carcinoma
c.3426A>C; p.P1142P;	ovary	carcinoma; serous_carcinoma
c.4409C>T; p.A1470V;	lung	carcinoma; squamous_cell_carcinoma
c.1359G>T; p.Q453H;	lung	carcinoma; adenocarcinoma
c.1401G>T; p.E467D;	lung	carcinoma; adenocarcinoma
c.2613C>A; p.N871K;	lung	carcinoma; adenocarcinoma
c.1316G>T; p.S439I;	lung	carcinoma; adenocarcinoma
c.3048G>T; p.E1016D;	lung; left_upper_lobe	carcinoma; adenocarcinoma
c.1336G>A; p.G446R;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1821C>T; p.F607F;	lung	carcinoma; adenocarcinoma
c.1998C>G; p.P666P;	lung	carcinoma; adenocarcinoma
c.1698G>T; p.L566F;	lung; right_lower_lobe	carcinoma; adenocarcinoma
c.2258G>T; p.R753L;	lung; right_lower_lobe	carcinoma; adenocarcinoma
c.4270C>A; p.L1424I;	lung; right_lower_lobe	carcinoma; adenocarcinoma
c.1120G>T; p.E374*;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1425T>A; p.P475P;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1693T>C; p.S565P;	lung	carcinoma; adenocarcinoma
c.2623G>A; p.G875R;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1201C>T; p.R401*; 2:29460183-29460183	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.3573C>A; p.P1191P;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.3350C>A; p.T1117N;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.4753G>A; p.G1585S;	ovary	carcinoma; serous_carcinoma
c.3515+1G>A; p.?;	ovary	carcinoma; serous_carcinoma
c.1998C>A; p.P666P;	lung	carcinoma; adenocarcinoma
c.834T>A; p.P278P;	lung	carcinoma; adenocarcinoma
c.2865G>T; p.G955G;	lung	carcinoma; adenocarcinoma
c.4425C>A; p.H1475Q;	lung	carcinoma; adenocarcinoma
c.851G>A; p.R284K;	lung	carcinoma; squamous_cell_carcinoma
c.2436T>C; p.H812H;	lung	carcinoma; adenocarcinoma
c.646C>G; p.L216V;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.2067G>T; p.G689G;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.3612C>G; p.L1204L;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.3752C>A; p.A1251D;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1356G>C; p.G452G;	lung	carcinoma; adenocarcinoma
c.1317C>T; p.S439S;	lung	carcinoma; adenocarcinoma
c.1755C>A; p.A585A;	lung	carcinoma; adenocarcinoma
c.3952C>A; p.L1318M;	lung	carcinoma; adenocarcinoma
c.394G>T; p.V132L;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.3895G>T; p.E1299*;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.3813_3818delCGGGAT; p.F1271_M1273>L;	breast	carcinoma
c.1846G>T; p.G616*;	endometrium	carcinoma; endometrioid_carcinoma
c.789T>C; p.G263G;	large_intestine; caecum	carcinoma; adenocarcinoma
c.3184A>T; p.K1062*;	large_intestine; colon	carcinoma; adenocarcinoma
c.2631A>G; p.A877A;	large_intestine; colon	carcinoma; adenocarcinoma
c.3455T>C; p.L1152P;	large_intestine; colon	carcinoma; adenocarcinoma
c.4383C>A; p.I1461I;	large_intestine; colon	carcinoma; adenocarcinoma
c.961C>A; p.L321I;	large_intestine; colon	carcinoma; adenocarcinoma
c.3408C>T; p.S1136S;	large_intestine; colon	carcinoma; adenocarcinoma
c.3519A>G; p.K1173K;	large_intestine; colon	carcinoma; adenocarcinoma
c.3929C>A; p.T1310K;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2628C>T; p.A876A;	large_intestine; colon	carcinoma; adenocarcinoma
c.1957A>T; p.R653*;	large_intestine; colon	carcinoma; adenocarcinoma
c.964C>A; p.L322I;	large_intestine; caecum	carcinoma; adenocarcinoma
c.756C>T; p.S252S;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2694G>T; p.E898D;	large_intestine; colon	carcinoma; adenocarcinoma
c.3182G>T; p.R1061L;	large_intestine; colon	carcinoma; adenocarcinoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	large_intestine; colon	carcinoma; adenocarcinoma
c.1307C>T; p.A436V;	large_intestine; colon	carcinoma; adenocarcinoma
c.2017C>A; p.Q673K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1647G>T; p.E549D;	large_intestine; colon	NS
c.1803C>T; p.L601L;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1179C>T; p.I393I;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2238C>T; p.G746G;	large_intestine; colon	carcinoma; adenocarcinoma
c.874C>T; p.R292C;	large_intestine; colon	carcinoma; adenocarcinoma
c.1180G>A; p.G394R;	large_intestine; colon	carcinoma; adenocarcinoma
c.1262C>T; p.A421V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1752C>T; p.V584V;	large_intestine; colon	carcinoma; adenocarcinoma
c.4319C>T; p.A1440V;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1201C>T; p.R401*; 2:29460183-29460183	large_intestine; colon	carcinoma; adenocarcinoma
c.219G>A; p.L73L;	large_intestine; colon	carcinoma; adenocarcinoma
c.1678T>C; p.L560L;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1258T>C; p.F420L;	large_intestine; rectum	carcinoma; adenocarcinoma
c.3625C>T; p.R1209*;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1753G>A; p.A585T;	large_intestine; rectum	carcinoma; adenocarcinoma
c.2844C>A; p.P948P;	large_intestine; rectum	carcinoma; adenocarcinoma
c.4752C>T; p.Y1584Y;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1275C>T; p.C425C;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1435T>G; p.Y479D;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1201C>T; p.R401*; 2:29460183-29460183	large_intestine; rectum	carcinoma; adenocarcinoma
c.784T>C; p.Y262H;	large_intestine; rectum	carcinoma; adenocarcinoma
c.4632C>T; p.N1544N;	breast	carcinoma
c.4065T>C; p.P1355P;	endometrium	carcinoma; endometrioid_carcinoma
c.2562C>T; p.D854D;	endometrium	carcinoma; endometrioid_carcinoma
c.584C>T; p.A195V;	endometrium	carcinoma; endometrioid_carcinoma
c.4752C>T; p.Y1584Y;	endometrium	carcinoma; endometrioid_carcinoma
c.4346C>A; p.S1449Y;	endometrium	carcinoma; endometrioid_carcinoma
c.2951A>G; p.Y984C;	endometrium	carcinoma; endometrioid_carcinoma
c.4672G>C; p.E1558Q;	endometrium	carcinoma; endometrioid_carcinoma
c.2613C>T; p.N871N;	endometrium	carcinoma; endometrioid_carcinoma
c.1178T>G; p.I393S;	endometrium	carcinoma; endometrioid_carcinoma
c.3757A>G; p.R1253G;	endometrium	carcinoma; endometrioid_carcinoma
c.1274G>A; p.C425Y;	endometrium	carcinoma; endometrioid_carcinoma
c.4584C>T; p.H1528H;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2178G>T; p.W726C;	endometrium	carcinoma; endometrioid_carcinoma
c.2236G>T; p.G746C;	endometrium	carcinoma; endometrioid_carcinoma
c.446C>T; p.A149V;	large_intestine; colon	carcinoma; adenocarcinoma
c.1679T>C; p.L560S;	large_intestine; colon	carcinoma; adenocarcinoma
c.846C>G; p.D282E;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.3923C>A; p.S1308Y;	endometrium	carcinoma; endometrioid_carcinoma
c.3783C>T; p.G1261G;	endometrium	carcinoma; endometrioid_carcinoma
c.1458C>A; p.F486L;	endometrium	carcinoma; endometrioid_carcinoma
c.3836G>T; p.R1279M;	endometrium	carcinoma; endometrioid_carcinoma
c.2319C>A; p.I773I;	endometrium	carcinoma; endometrioid_carcinoma
c.4306C>T; p.R1436C;	endometrium	carcinoma; endometrioid_carcinoma
c.4056G>C; p.K1352N;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.2460A>G; p.G820G;	endometrium	carcinoma; endometrioid_carcinoma
c.3823C>T; p.R1275*;	breast	carcinoma
c.858G>A; p.Q286Q;	breast	carcinoma
c.641G>A; p.R214H;	endometrium	carcinoma; endometrioid_carcinoma
c.617C>T; p.A206V;	endometrium	carcinoma; endometrioid_carcinoma
c.2577G>T; p.E859D;	endometrium	carcinoma; endometrioid_carcinoma
c.2394C>T; p.N798N;	endometrium	carcinoma; endometrioid_carcinoma
c.1223C>A; p.S408Y;	endometrium	carcinoma; endometrioid_carcinoma
c.1616T>G; p.F539C;	large_intestine; colon	carcinoma; adenocarcinoma
c.871C>T; p.R291C;	large_intestine; colon	carcinoma; adenocarcinoma
c.4076A>G; p.Y1359C;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.2593T>C; p.S865P;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.786T>A; p.Y262*;	large_intestine; colon	carcinoma; adenocarcinoma
c.1830G>A; p.Q610Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.3337C>A; p.R1113R;	large_intestine; colon	carcinoma; adenocarcinoma
c.3182G>T; p.R1061L;	large_intestine; colon	carcinoma; adenocarcinoma
c.3182G>T; p.R1061L;	large_intestine; colon	carcinoma; adenocarcinoma
c.4834A>G; p.K1612E;	large_intestine; colon	carcinoma; adenocarcinoma
c.1626G>A; p.P542P;	large_intestine; colon	carcinoma; adenocarcinoma
c.673A>G; p.S225G;	large_intestine; colon	carcinoma; adenocarcinoma
c.2193C>T; p.T731T;	large_intestine; colon	carcinoma; adenocarcinoma
c.654G>T; p.Q218H;	endometrium	carcinoma; endometrioid_carcinoma
c.1414+1G>A; p.?;	endometrium	carcinoma; endometrioid_carcinoma
c.2586G>T; p.E862D;	endometrium	carcinoma; endometrioid_carcinoma
c.1320C>A; p.S440S;	endometrium	carcinoma; endometrioid_carcinoma
c.3825A>G; p.R1275R;	large_intestine; colon	carcinoma; adenocarcinoma
c.4632C>T; p.N1544N;	large_intestine; colon	carcinoma; adenocarcinoma
c.2742delG; p.W915fs*24;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2722delC; p.Q908fs*3;	large_intestine; colon	carcinoma; adenocarcinoma
c.947C>G; p.P316R;	urinary_tract; bladder	carcinoma
c.3513C>A; p.I1171I;	large_intestine; colon	carcinoma; adenocarcinoma
c.1626G>T; p.P542P;	large_intestine; colon	carcinoma; adenocarcinoma
c.3362G>A; p.G1121D;	large_intestine; colon	carcinoma; adenocarcinoma
c.785A>T; p.Y262F;	large_intestine; colon	carcinoma; adenocarcinoma
c.784T>C; p.Y262H;	large_intestine; colon	carcinoma; adenocarcinoma
c.3702C>A; p.A1234A;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2527G>A; p.G843R;	breast	carcinoma
c.3184A>G; p.K1062E;	large_intestine; colon	carcinoma; adenocarcinoma
c.3631A>G; p.T1211A;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1752C>T; p.V584V;	urinary_tract; bladder	carcinoma
c.1626G>T; p.P542P;	large_intestine; colon	carcinoma; adenocarcinoma
c.574G>A; p.E192K;	large_intestine; colon	carcinoma; adenocarcinoma
c.3451A>G; p.T1151A;	large_intestine; colon	carcinoma; adenocarcinoma
c.3824G>T; p.R1275L; 2:29286168-29286168	large_intestine; colon	carcinoma; adenocarcinoma
c.4472A>G; p.K1491R;	prostate	carcinoma; adenocarcinoma
c.3824G>A; p.R1275Q; 2:29286168-29286168	autonomic_ganglia	neuroblastoma
c.3626G>A; p.R1209Q;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2692G>A; p.E898K;	prostate	carcinoma
c.2677G>A; p.G893R;	skin	malignant_melanoma
c.1652G>A; p.R551Q;	skin	malignant_melanoma
c.1588G>A; p.E530K;	skin	malignant_melanoma
c.956C>T; p.S319F;	skin	malignant_melanoma
c.4523G>A; p.G1508D;	skin	malignant_melanoma
c.3724G>A; p.E1242K;	skin	malignant_melanoma
c.2002G>A; p.E668K;	skin	malignant_melanoma
c.3589G>A; p.E1197K;	skin	malignant_melanoma
c.1852G>A; p.G618R;	skin; neck	malignant_melanoma
c.2074G>A; p.G692R;	skin	malignant_melanoma
c.2452G>A; p.G818R;	skin; mucosal	malignant_melanoma
c.3640C>T; p.R1214C;	skin; face	carcinoma; squamous_cell_carcinoma
c.2219G>A; p.G740E;	skin; scalp	carcinoma; squamous_cell_carcinoma

PCGP germline mutation [Top]

PCGP somatic mutation [Top]

COSMIC somatic mutation [Top]