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	6597
Symbol	SMARCA4
Synonymous	BAF190\|BAF190A\|BRG1\|MRD16\|RTPS2\|SNF2\|SNF2L4\|SNF2LB\|SWI2\|hSNF2b
Full name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Gene description	ATP-dependent helicase SMARCA4\|BRG1-associated factor 190A\|BRM/SWI2-related gene 1\|SNF2-beta\|SNF2-like 4\|brahma protein-like 1\|global transcription activator homologous sequence\|homeotic gene regulator\|mitotic growth and transcription activator\|nuclear pr
Cytoband	19p13.2
Gene type	protein-coding
Synonymous	MIM:603254; HGNC:HGNC:11100; Ensembl:ENSG00000127616; HPRD:04459; Vega:OTTHUMG00000169272

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2438+1G>A; p.?; 19:11013113-11013113	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2438+1G>A; p.?; 19:11013113-11013113	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2002-2A>G; p.?; 19:11007900-11007900	lung	carcinoma; adenocarcinoma	Unknown
c.4231C>T; p.R1411W; 19:11041367-11041367	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1413G>A; p.K471K; 19:10991317-10991317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3572A>G; p.H1191R; 19:11033315-11033315	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2427C>T; p.I809I; 19:11013101-11013101	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3768_3769delGG; p.D1257fs*1; 19:11033511-11033512	breast	carcinoma	Deletion - Frameshift
c.479A>G; p.Q160R; 19:10986312-10986312	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3324C>T; p.L1108L; 19:11027892-11027892	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3324C>T; p.L1108L; 19:11027892-11027892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4477G>T; p.E1493*; 19:11058307-11058307	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3620T>C; p.V1207A; 19:11033363-11033363	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1761+1G>A; p.?; 19:10996381-10996381	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2843C>T; p.A948V; 19:11021951-11021951	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4826T>C; p.L1609P; 19:11060102-11060102	central_nervous_system; brain	glioma	Substitution - Missense
c.3109A>T; p.N1037Y; 19:11025449-11025449	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.3379G>T; p.D1127Y; 19:11027947-11027947	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1683G>T; p.V561V; 19:10996302-10996302	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2767G>C; p.A923P; 19:11021875-11021875	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3652G>T; p.A1218S; 19:11033395-11033395	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1190G>A; p.R397Q; 19:10989388-10989388	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2971A>G; p.K991E; 19:11023629-11023629	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3168+1G>A; p.?; 19:11025509-11025509	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2644G>A; p.E882K; 19:11021752-11021752	skin	malignant_melanoma	Substitution - Missense
c.4776C>T; p.S1592S; 19:11060052-11060052	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2644G>A; p.E882K; 19:11021752-11021752	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.4201G>A; p.E1401K; 19:11041337-11041337	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3745G>T; p.A1249S; 19:11033488-11033488	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4776C>T; p.S1592S; 19:11060052-11060052	thyroid	carcinoma; anaplastic_carcinoma	Substitution - coding silent
c.3099G>C; p.K1033N; 19:11025439-11025439	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3476delG; p.L1161fs*3; 19:11030823-11030823	lung	carcinoma; large_cell_carcinoma	Deletion - Frameshift
c.4702G>A; p.D1568N; 19:11059819-11059819	breast	carcinoma	Substitution - Missense
c.2184G>A; p.L728L; 19:11010441-11010441	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2730G>A; p.T910T; 19:11021838-11021838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2057_2059delAGA; p.K689delK; 19:11007957-11007959	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1419+1G>T; p.?; 19:10991324-10991324	ovary	carcinoma; small_cell_carcinoma	Unknown
c.417G>A; p.P139P; 19:10986250-10986250	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.784C>T; p.P262S; 19:10986928-10986928	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4333C>T; p.R1445W; 19:11041469-11041469	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3633G>A; p.E1211E; 19:11033376-11033376	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.4584C>T; p.D1528D; 19:11058838-11058838	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.2001_2001delG; p.E668fs*106; 19:11003397-11003397	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.3633G>A; p.E1211E; 19:11033376-11033376	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.1058delC; p.I355fs*56; 19:10987864-10987864	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4584C>T; p.D1528D; 19:11058838-11058838	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3404G>A; p.R1135Q; 19:11030751-11030751	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.4383G>C; p.K1461N; 19:11041519-11041519	skin	malignant_melanoma	Substitution - Missense
c.416C>T; p.P139L; 19:10986249-10986249	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2941A>G; p.K981E; 19:11023599-11023599	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1108C>T; p.R370C; 19:10987914-10987914	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.416C>T; p.P139L; 19:10986249-10986249	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.3760G>T; p.E1254*; 19:11033503-11033503	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.302G>T; p.G101V; 19:10985352-10985352	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3488T>C; p.L1163P; 19:11030835-11030835	large_intestine; colon	carcinoma	Substitution - Missense
c.3488T>C; p.L1163P; 19:11030835-11030835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2942A>T; p.K981M; 19:11023600-11023600	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.433A>T; p.M145L; 19:10986266-10986266	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1016C>T; p.P339L; 19:10987822-10987822	skin	malignant_melanoma	Substitution - Missense
c.3488T>C; p.L1163P; 19:11030835-11030835	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>T; p.E520*; 19:10994966-10994966	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3546+1G>T; p.?; 19:11030894-11030894	lung	carcinoma; adenocarcinoma	Unknown
c.3046G>A; p.V1016M; 19:11024403-11024403	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3046G>A; p.V1016M; 19:11024403-11024403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3630_3632delGGA; p.E1212delE; 19:11033373-11033375	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.2022G>A; p.P674P; 19:11007922-11007922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1630C>T; p.Q544*; 19:10996249-10996249	breast	carcinoma	Substitution - Nonsense
c.3770_3771insC; p.E1258fs*1; 19:11033513-11033514	breast	carcinoma	Insertion - Frameshift
c.3744G>C; p.Q1248H; 19:11033487-11033487	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4067G>A; p.R1356Q; 19:11035029-11035029	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3566G>A; p.R1189Q; 19:11033309-11033309	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3566G>A; p.R1189Q; 19:11033309-11033309	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.363_364insC; p.S122fs*7; 19:10986196-10986197	large_intestine; colon	carcinoma	Insertion - Frameshift
c.4158G>A; p.K1386K; 19:11035120-11035120	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.851G>T; p.W284L; 19:10986995-10986995	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2438+1G>T; p.?; 19:11013113-11013113	soft_tissue; striated_muscle	rhabdoid_tumour	Unknown
c.3706C>T; p.Q1236*; 19:11033449-11033449	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3067G>C; p.E1023Q; 19:11024424-11024424	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1259T>C; p.V420A; 19:10991163-10991163	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4105C>A; p.R1369S; 19:11035067-11035067	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4606G>A; p.A1536T; 19:11058860-11058860	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2987T>G; p.I996S; 19:11024344-11024344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1165_1165delC; p.S391fs*20; 19:10989363-10989363	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.3469C>T; p.R1157W; 19:11030816-11030816	pancreas	NS	Substitution - Missense
c.3704A>G; p.D1235G; 19:11033447-11033447	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3469C>T; p.R1157W; 19:11030816-11030816	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3469C>T; p.R1157W; 19:11030816-11030816	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; classic	Substitution - Missense
c.2338G>A; p.E780K; 19:11013012-11013012	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1118+1G>A; p.?; 19:10987925-10987925	kidney	other; neoplasm	Unknown
c.3469C>T; p.R1157W; 19:11030816-11030816	skin; trunk	malignant_melanoma	Substitution - Missense
c.1195A>T; p.K399*; 19:10989393-10989393	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2301C>T; p.S767S; 19:11012975-11012975	skin	malignant_melanoma	Substitution - coding silent
c.3580G>A; p.G1194R; 19:11033323-11033323	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3910C>T; p.Q1304*; 19:11034159-11034159	liver	carcinoma	Substitution - Nonsense
c.3910C>T; p.Q1304*; 19:11034159-11034159	liver	carcinoma	Substitution - Nonsense
c.2651A>C; p.H884P; 19:11021759-11021759	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.2005G>A; p.E669K; 19:11007905-11007905	skin	malignant_melanoma	Substitution - Missense
c.2952C>G; p.V984V; 19:11023610-11023610	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.455delC; p.P153fs*150; 19:10986288-10986288	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2275-1G>T; p.?; 19:11012948-11012948	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2756C>T; p.P919L; 19:11021864-11021864	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4051G>A; p.D1351N; 19:11035013-11035013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4051G>A; p.D1351N; 19:11035013-11035013	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2986A>T; p.I996F; 19:11024343-11024343	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2275-1G>T; p.?; 19:11012948-11012948	breast	carcinoma	Unknown
c.3631G>A; p.E1211K; 19:11033374-11033374	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2896C>T; p.R966W; 19:11023554-11023554	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2896C>T; p.R966W; 19:11023554-11023554	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4823G>A; p.R1608Q; 19:11060099-11060099	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2896C>T; p.R966W; 19:11023554-11023554	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.35C>T; p.P12L; 19:10984186-10984186	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2896C>T; p.R966W; 19:11023554-11023554	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4113C>T; p.S1371S; 19:11035075-11035075	skin; arm	malignant_melanoma	Substitution - coding silent
c.3922C>T; p.R1308W; 19:11034171-11034171	pancreas	carcinoma	Substitution - Missense
c.3531C>A; p.D1177E; 19:11030878-11030878	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2918G>A; p.R973Q; 19:11023576-11023576	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3922C>T; p.R1308W; 19:11034171-11034171	pancreas	carcinoma	Substitution - Missense
c.2918G>A; p.R973Q; 19:11023576-11023576	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2918G>A; p.R973Q; 19:11023576-11023576	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.2717G>T; p.R906L; 19:11021825-11021825	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2918G>A; p.R973Q; 19:11023576-11023576	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3531C>A; p.D1177E; 19:11030878-11030878	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2372C>T; p.A791V; 19:11013046-11013046	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2932C>T; p.R978*; 19:11023590-11023590	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2932C>T; p.R978*; 19:11023590-11023590	liver	carcinoma	Substitution - Nonsense
c.2932C>T; p.R978*; 19:11023590-11023590	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1018G>A; p.A340T; 19:10987824-10987824	central_nervous_system; brain	glioma	Substitution - Missense
c.2239G>A; p.A747T; 19:11010496-11010496	kidney	Wilms_tumour	Substitution - Missense
c.2166G>T; p.Q722H; 19:11010423-11010423	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1659C>G; p.L553L; 19:10996278-10996278	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1659C>G; p.L553L; 19:10996278-10996278	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2932C>T; p.R978*; 19:11023590-11023590	liver	carcinoma	Substitution - Nonsense
c.1548G>A; p.K516K; 19:10994956-10994956	skin	malignant_melanoma	Substitution - coding silent
c.2439-2A>T; p.?; 19:11018955-11018955	ovary	carcinoma; small_cell_carcinoma	Unknown
c.4936G>A; p.E1646K; 19:11061808-11061808	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2439-2A>T; p.?; 19:11018955-11018955	ovary	carcinoma; small_cell_carcinoma	Unknown
c.4146A>G; p.S1382S; 19:11035108-11035108	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.359_360insC; p.S122fs*7; 19:10986192-10986193	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.3147C>T; p.P1049P; 19:11025487-11025487	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.2713C>T; p.R905C; 19:11021821-11021821	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1326_1326delC; p.S442fs*59; 19:10991230-10991230	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2743C>T; p.Q915*; 19:11021851-11021851	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1810G>A; p.E604K; 19:10996542-10996542	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3702C>A; p.F1234L; 19:11033445-11033445	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3636G>C; p.E1212D; 19:11033379-11033379	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3351G>A; p.A1117A; 19:11027919-11027919	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.564G>A; p.K188K; 19:10986397-10986397	skin	malignant_melanoma	Substitution - coding silent
c.1147C>T; p.Q383*; 19:10989345-10989345	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1761+2T>A; p.?; 19:10996382-10996382	ovary	carcinoma; small_cell_carcinoma	Unknown
c.1426C>G; p.L476V; 19:10994834-10994834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.666A>C; p.P222P; 19:10986499-10986499	pancreas	carcinoma	Substitution - coding silent
c.2354A>G; p.K785R; 19:11013028-11013028	skin	malignant_melanoma	Substitution - Missense
c.4600C>A; p.Q1534K; 19:11058854-11058854	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2581G>A; p.E861K; 19:11019666-11019666	skin	malignant_melanoma	Substitution - Missense
c.1626_1626delC; p.I542fs*71; 19:10996245-10996245	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.4034C>T; p.S1345L; 19:11034996-11034996	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2581G>A; p.E861K; 19:11019666-11019666	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3059A>G; p.D1020G; 19:11024416-11024416	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1926G>C; p.W642C; 19:11003142-11003142	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1926G>C; p.W642C; 19:11003142-11003142	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1252C>T; p.Q418*; 19:10991156-10991156	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1757A>G; p.K586R; 19:10996376-10996376	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3324C>A; p.L1108L; 19:11027892-11027892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3324C>A; p.L1108L; 19:11027892-11027892	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4030C>T; p.P1344S; 19:11034992-11034992	skin	malignant_melanoma	Substitution - Missense
c.4090G>A; p.E1364K; 19:11035052-11035052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1864G>A; p.V622M; 19:11003080-11003080	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.2655C>G; p.R885R; 19:11021763-11021763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4030C>T; p.P1344S; 19:11034992-11034992	skin	malignant_melanoma	Substitution - Missense
c.2184_2206del23; p.Q729fs*4; 19:11010441-11010463	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2184_2206del23; p.Q729fs*4; 19:11010441-11010463	lung	carcinoma	Deletion - Frameshift
c.2184_2206del23; p.Q729fs*4; 19:11010441-11010463	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3500C>T; p.S1167L; 19:11030847-11030847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1812+1G>T; p.?; 19:10996545-10996545	lung	carcinoma; adenocarcinoma	Unknown
c.272A>G; p.N91S; 19:10985322-10985322	central_nervous_system; brain	glioma	Substitution - Missense
c.3676C>T; p.Q1226*; 19:11033419-11033419	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2008G>T; p.E670*; 19:11007908-11007908	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1420G>T; p.E474*; 19:10994828-10994828	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1803G>A; p.P601P; 19:10996535-10996535	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1906G>A; p.A636T; 19:11003122-11003122	pancreas	carcinoma	Substitution - Missense
c.3526A>T; p.S1176C; 19:11030873-11030873	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1666C>T; p.Q556*; 19:10996285-10996285	liver	carcinoma	Substitution - Nonsense
c.2897G>A; p.R966Q; 19:11023555-11023555	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.4232G>A; p.R1411Q; 19:11041368-11041368	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1666C>T; p.Q556*; 19:10996285-10996285	liver	carcinoma	Substitution - Nonsense
c.3496C>T; p.Q1166*; 19:11030843-11030843	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1593+2T>C; p.?; 19:10995003-10995003	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Unknown
c.365C>T; p.S122L; 19:10986198-10986198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3724G>T; p.E1242*; 19:11033467-11033467	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Nonsense
c.3496C>T; p.Q1166*; 19:11030843-11030843	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2936G>T; p.R979L; 19:11023594-11023594	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3230G>T; p.R1077L; 19:11027798-11027798	thyroid	carcinoma; medullary_carcinoma	Substitution - Missense
c.2738C>A; p.P913Q; 19:11021846-11021846	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2357C>A; p.T786N; 19:11013031-11013031	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2444T>C; p.L815P; 19:11018962-11018962	pancreas	carcinoma	Substitution - Missense
c.1207G>A; p.E403K; 19:10989405-10989405	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2877G>A; p.E959E; 19:11023535-11023535	skin	malignant_melanoma	Substitution - coding silent
c.2444T>C; p.L815P; 19:11018962-11018962	pancreas	carcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 19:11033300-11033300	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 19:11033300-11033300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 19:11033300-11033300	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 19:11033300-11033300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3557C>T; p.A1186V; 19:11033300-11033300	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.4328G>A; p.R1443H; 19:11041464-11041464	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1427T>C; p.L476P; 19:10994835-10994835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1615C>T; p.R539C; 19:10996234-10996234	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.805delC; p.M272fs*31; 19:10986949-10986949	lung	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.805delC; p.M272fs*31; 19:10986949-10986949	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3731G>C; p.R1244P; 19:11033474-11033474	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4887T>C; p.D1629D; 19:11060163-11060163	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4887T>C; p.D1629D; 19:11060163-11060163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4343C>T; p.A1448V; 19:11041479-11041479	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4887T>C; p.D1629D; 19:11060163-11060163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3574C>G; p.R1192G; 19:11033317-11033317	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4887T>C; p.D1629D; 19:11060163-11060163	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3574C>G; p.R1192G; 19:11033317-11033317	liver	carcinoma	Substitution - Missense
c.4267A>G; p.T1423A; 19:11041403-11041403	haematopoietic_and_lymphoid_tissue; pharynx	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.4838G>A; p.R1613Q; 19:11060114-11060114	breast	carcinoma	Substitution - Missense
c.3546+1G>T; p.?; 19:11030894-11030894	ovary	carcinoma; small_cell_carcinoma	Unknown
c.499C>G; p.R167G; 19:10986332-10986332	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2915T>C; p.L972P; 19:11023573-11023573	ovary	carcinoma; small_cell_carcinoma	Substitution - Missense
c.499C>G; p.R167G; 19:10986332-10986332	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3538C>T; p.P1180S; 19:11030885-11030885	skin	malignant_melanoma	Substitution - Missense
c.2505+2T>C; p.?; 19:11019025-11019025	lung	carcinoma; adenocarcinoma	Unknown
c.3002C>A; p.S1001Y; 19:11024359-11024359	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1428C>A; p.L476L; 19:10994836-10994836	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.3811T>C; p.F1271L; 19:11033803-11033803	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.811G>A; p.G271R; 19:10986955-10986955	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.400G>A; p.V134I; 19:10986233-10986233	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1343G>A; p.R448H; 19:10991247-10991247	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.223-1G>T; p.?; 19:10985272-10985272	upper_aerodigestive_tract; mouth	carcinoma	Unknown
c.3481_3481delC; p.L1161fs*3; 19:11030828-11030828	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.830C>A; p.P277H; 19:10986974-10986974	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.223-1G>T; p.?; 19:10985272-10985272	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Unknown
c.4801C>T; p.R1601W; 19:11060077-11060077	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1426C>T; p.L476F; 19:10994834-10994834	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4801C>T; p.R1601W; 19:11060077-11060077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.590C>A; p.P197H; 19:10986423-10986423	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3830C>T; p.P1277L; 19:11033822-11033822	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3834A>G; p.P1278P; 19:11033826-11033826	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1524T>C; p.H508H; 19:10994932-10994932	thyroid	other; neoplasm	Substitution - coding silent
c.2988delC; p.K997fs*22; 19:11024345-11024345	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3830C>T; p.P1277L; 19:11033822-11033822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1524T>C; p.H508H; 19:10994932-10994932	thyroid	other; neoplasm	Substitution - coding silent
c.2438+1_2438+2insTGA; p.?; 19:11013113-11013114	ovary	carcinoma; small_cell_carcinoma	Unknown
c.4559G>A; p.R1520H; 19:11058813-11058813	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2651A>G; p.H884R; 19:11021759-11021759	central_nervous_system; brain	glioma	Substitution - Missense
c.2016G>A; p.E672E; 19:11007916-11007916	liver	carcinoma	Substitution - coding silent
c.2897G>T; p.R966L; 19:11023555-11023555	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1975G>T; p.E659*; 19:11003371-11003371	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2344G>A; p.G782S; 19:11013018-11013018	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2507G>A; p.G836E; 19:11019592-11019592	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3357C>T; p.R1119R; 19:11027925-11027925	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1616G>A; p.R539H; 19:10996235-10996235	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1599A>C; p.E533D; 19:10996218-10996218	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3565C>T; p.R1189*; 19:11033308-11033308	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3373A>G; p.R1125G; 19:11027941-11027941	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4007G>A; p.R1336H; 19:11034969-11034969	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4007G>A; p.R1336H; 19:11034969-11034969	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.194C>T; p.P65L; 19:10984345-10984345	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1142G>A; p.R381Q; 19:10989340-10989340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1142G>A; p.R381Q; 19:10989340-10989340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.322delC; p.P109fs*194; 19:10985372-10985372	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2788C>T; p.P930S; 19:11021896-11021896	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1142G>A; p.R381Q; 19:10989340-10989340	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3358G>A; p.G1120S; 19:11027926-11027926	ovary	other; neoplasm	Substitution - Missense
c.4692C>T; p.I1564I; 19:11059809-11059809	skin	malignant_melanoma	Substitution - coding silent
c.4403C>T; p.A1468V; 19:11041539-11041539	skin	malignant_melanoma	Substitution - Missense
c.2789C>T; p.P930L; 19:11021897-11021897	thyroid	carcinoma	Substitution - Missense
c.4403C>T; p.A1468V; 19:11041539-11041539	skin	malignant_melanoma	Substitution - Missense
c.1781G>C; p.G594A; 19:10996513-10996513	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3553C>A; p.Q1185K; 19:11033296-11033296	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1943+2T>G; p.?; 19:11003161-11003161	breast	carcinoma	Unknown
c.4148T>C; p.L1383P; 19:11035110-11035110	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4635G>T; p.L1545L; 19:11058889-11058889	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1940C>T; p.P647L; 19:11003156-11003156	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1940C>T; p.P647L; 19:11003156-11003156	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3247G>T; p.E1083*; 19:11027815-11027815	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.168C>T; p.I56I; 19:10984319-10984319	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1677_1761del85; p.?; 19:10996296-10996380	lung	carcinoma	Unknown
c.1677_1761del85; p.?; 19:10996296-10996380	prostate	carcinoma; adenocarcinoma	Unknown
c.2432C>G; p.P811R; 19:11013106-11013106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1687_1700del14; p.N563fs*83; 19:10996306-10996319	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2129_2129delC; p.K711fs*63; 19:11010386-11010386	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.4233G>A; p.R1411R; 19:11041369-11041369	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3918C>T; p.I1306I; 19:11034167-11034167	skin	malignant_melanoma	Substitution - coding silent
c.3350C>T; p.A1117V; 19:11027918-11027918	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3144C>T; p.H1048H; 19:11025484-11025484	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2457G>A; p.A819A; 19:11018975-11018975	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2011G>T; p.E671*; 19:11007911-11007911	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2343G>T; p.M781I; 19:11013017-11013017	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3586C>T; p.Q1196*; 19:11033329-11033329	pancreas	NS	Substitution - Nonsense
c.3236C>T; p.S1079L; 19:11027804-11027804	pancreas	carcinoma	Substitution - Missense
c.2457G>A; p.A819A; 19:11018975-11018975	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2900G>A; p.R967H; 19:11023558-11023558	breast	carcinoma	Substitution - Missense
c.2439A>C; p.S813S; 19:11018957-11018957	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3277C>T; p.R1093*; 19:11027845-11027845	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2646A>T; p.E882D; 19:11021754-11021754	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.326C>T; p.P109L; 19:10985376-10985376	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4367C>T; p.P1456L; 19:11041503-11041503	skin	malignant_melanoma	Substitution - Missense
c.1889G>C; p.G630A; 19:11003105-11003105	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3277C>T; p.R1093*; 19:11027845-11027845	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3502G>C; p.A1168P; 19:11030849-11030849	central_nervous_system; brain	glioma	Substitution - Missense
c.3277C>T; p.R1093*; 19:11027845-11027845	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3529G>T; p.D1177Y; 19:11030876-11030876	pancreas	carcinoma	Substitution - Missense
c.2059A>G; p.K687E; 19:11007959-11007959	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4005G>A; p.P1335P; 19:11034967-11034967	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.2059A>G; p.K687E; 19:11007959-11007959	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4005G>A; p.P1335P; 19:11034967-11034967	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2735C>A; p.T912K; 19:11021843-11021843	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.4617C>T; p.F1539F; 19:11058871-11058871	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4200C>T; p.I1400I; 19:11041336-11041336	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4403C>G; p.A1468G; 19:11041539-11041539	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1839C>T; p.S613S; 19:11003055-11003055	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.4200C>T; p.I1400I; 19:11041336-11041336	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3557C>G; p.A1186G; 19:11033300-11033300	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3005C>T; p.A1002V; 19:11024362-11024362	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.254C>T; p.S85L; 19:10985304-10985304	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.254C>T; p.S85L; 19:10985304-10985304	breast	carcinoma	Substitution - Missense
c.3005C>T; p.A1002V; 19:11024362-11024362	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2653C>T; p.R885C; 19:11021761-11021761	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1208A>G; p.E403G; 19:10989406-10989406	ovary	carcinoma	Substitution - Missense
c.2351G>A; p.G784E; 19:11013025-11013025	skin; mucosal	malignant_melanoma	Substitution - Missense
c.4870C>T; p.P1624S; 19:11060146-11060146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4023C>T; p.D1341D; 19:11034985-11034985	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2290T>A; p.W764R; 19:11012964-11012964	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2290T>A; p.W764R; 19:11012964-11012964	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2290T>A; p.W764R; 19:11012964-11012964	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1111G>A; p.E371K; 19:10987917-10987917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4543C>T; p.R1515C; 19:11058797-11058797	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1881C>T; p.I627I; 19:11003097-11003097	skin	malignant_melanoma	Substitution - coding silent
c.3598C>T; p.R1200C; 19:11033341-11033341	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4471C>T; p.R1491*; 19:11058301-11058301	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Nonsense
c.3727C>T; p.R1243W; 19:11033470-11033470	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	pancreas	carcinoma	Substitution - Missense
c.4471C>T; p.R1491*; 19:11058301-11058301	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.3727C>T; p.R1243W; 19:11033470-11033470	pancreas	carcinoma	Substitution - Missense
c.3203G>A; p.G1068D; 19:11026334-11026334	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4505G>A; p.R1502H; 19:11058335-11058335	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	pancreas	carcinoma	Substitution - Missense
c.3058G>T; p.D1020Y; 19:11024415-11024415	central_nervous_system; brain	glioma	Substitution - Missense
c.3727C>T; p.R1243W; 19:11033470-11033470	pancreas	carcinoma	Substitution - Missense
c.4471C>T; p.R1491*; 19:11058301-11058301	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2245_2246insA; p.M749fs*75; 19:11010502-11010503	ovary	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.4602G>C; p.Q1534H; 19:11058856-11058856	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3813C>T; p.F1271F; 19:11033805-11033805	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - coding silent
c.1557C>T; p.N519N; 19:10994965-10994965	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1027_1027delG; p.V343fs*68; 19:10987833-10987833	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.1756A>T; p.K586*; 19:10996375-10996375	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3293A>G; p.K1098R; 19:11027861-11027861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.451G>A; p.G151S; 19:10986284-10986284	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3699G>A; p.M1233I; 19:11033442-11033442	skin	malignant_melanoma	Substitution - Missense
c.3699G>A; p.M1233I; 19:11033442-11033442	skin	malignant_melanoma	Substitution - Missense
c.3436G>A; p.G1146S; 19:11030783-11030783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2225T>C; p.V742A; 19:11010482-11010482	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2260C>T; p.L754F; 19:11010517-11010517	skin	malignant_melanoma	Substitution - Missense
c.4775C>T; p.S1592F; 19:11060051-11060051	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4617C>G; p.F1539L; 19:11058871-11058871	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1352G>A; p.R451H; 19:10991256-10991256	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.3831G>A; p.P1277P; 19:11033823-11033823	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2080G>T; p.D694Y; 19:11007980-11007980	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.37C>T; p.R13W; 19:10984188-10984188	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1733_1761+40del69; p.?; 19:10996352-10996420	lung	carcinoma	Unknown
c.2290T>C; p.W764R; 19:11012964-11012964	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3257A>G; p.D1086G; 19:11027825-11027825	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3168+1G>C; p.?; 19:11025509-11025509	ovary	carcinoma; small_cell_carcinoma	Unknown
c.3546+1G>A; p.?; 19:11030894-11030894	ovary	carcinoma; small_cell_carcinoma	Unknown
c.4208A>G; p.E1403G; 19:11041344-11041344	skin	malignant_melanoma	Substitution - Missense
c.2576C>T; p.T859M; 19:11019661-11019661	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.34C>T; p.P12S; 19:10984185-10984185	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; desmoplastic	Substitution - Missense
c.2222G>A; p.R741K; 19:11010479-11010479	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.4735G>T; p.E1579*; 19:11059852-11059852	breast	carcinoma	Substitution - Nonsense
c.4177G>A; p.E1393K; 19:11041313-11041313	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1525G>T; p.A509S; 19:10994933-10994933	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.2461G>A; p.E821K; 19:11018979-11018979	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1917_1918GG>CT; p.L639>?; 19:11003133-11003134	lung	carcinoma; adenocarcinoma	Complex
c.3487C>G; p.L1163V; 19:11030834-11030834	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1405C>T; p.R469W; 19:10991309-10991309	kidney	Wilms_tumour	Substitution - Missense
c.3998G>A; p.R1333Q; 19:11034960-11034960	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2428G>A; p.V810M; 19:11013102-11013102	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3082-1G>T; p.?; 19:11025421-11025421	lung; right_lower_lobe	carcinoma; adenocarcinoma	Unknown
c.2995G>A; p.D999N; 19:11024352-11024352	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1146T>C; p.I382I; 19:10989344-10989344	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3547-2A>G; p.?; 19:11033288-11033288	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1396C>T; p.R466C; 19:10991300-10991300	pituitary; craniopharyngeal_duct	craniopharyngioma; adamantinomatous	Substitution - Missense
c.1166C>T; p.P389L; 19:10989364-10989364	skin	malignant_melanoma	Substitution - Missense
c.3703G>T; p.D1235Y; 19:11033446-11033446	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3348T>C; p.F1116F; 19:11027916-11027916	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2650C>A; p.H884N; 19:11021758-11021758	central_nervous_system; brain	glioma	Substitution - Missense
c.3703G>T; p.D1235Y; 19:11033446-11033446	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2917C>T; p.R973W; 19:11023575-11023575	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2917C>T; p.R973W; 19:11023575-11023575	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.2967C>T; p.P989P; 19:11023625-11023625	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1757_1757delA; p.K586fs*27; 19:10996376-10996376	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.4101C>T; p.F1367F; 19:11035063-11035063	skin	malignant_melanoma	Substitution - coding silent
c.4412A>G; p.K1471R; 19:11041548-11041548	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2917C>T; p.R973W; 19:11023575-11023575	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.169delC; p.T58fs*36; 19:10984320-10984320	lung	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.2506G>T; p.G836*; 19:11019591-11019591	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3165C>T; p.I1055I; 19:11025505-11025505	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.805_806delCC; p.P270fs*16; 19:10986949-10986950	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1378C>T; p.Q460*; 19:10991282-10991282	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3574C>T; p.R1192C; 19:11033317-11033317	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3481C>T; p.L1161F; 19:11030828-11030828	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3244_3244delT; p.F1082fs*24; 19:11027812-11027812	ovary	carcinoma	Deletion - Frameshift
c.3574C>T; p.R1192C; 19:11033317-11033317	central_nervous_system; brain	glioma	Substitution - Missense
c.3574C>T; p.R1192C; 19:11033317-11033317	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.355+1G>T; p.?; 19:10985406-10985406	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.4112C>A; p.S1371Y; 19:11035074-11035074	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4636-1G>C; p.?; 19:11059752-11059752	pancreas	NS	Unknown
c.2539C>T; p.Q847*; 19:11019624-11019624	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.2539C>T; p.Q847*; 19:11019624-11019624	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3440C>T; p.S1147F; 19:11030787-11030787	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3850G>A; p.D1284N; 19:11033842-11033842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1917G>T; p.L639L; 19:11003133-11003133	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4252G>A; p.D1418N; 19:11041388-11041388	skin	malignant_melanoma	Substitution - Missense
c.2635A>G; p.I879V; 19:11021743-11021743	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1948G>C; p.E650Q; 19:11003344-11003344	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1350C>T; p.A450A; 19:10991254-10991254	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1948G>C; p.E650Q; 19:11003344-11003344	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1750A>T; p.K584*; 19:10996369-10996369	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1199C>T; p.A400V; 19:10989397-10989397	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2319G>T; p.L773L; 19:11012993-11012993	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1889G>A; p.G630D; 19:11003105-11003105	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2079A>C; p.P693P; 19:11007979-11007979	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3896_3907del12; p.E1300_N1303del; 19:11034145-11034156	ovary	carcinoma; small_cell_carcinoma	Deletion - In frame
c.3993_3993delC; p.K1332fs*26; 19:11034955-11034955	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.4511C>T; p.P1504L; 19:11058341-11058341	skin	malignant_melanoma	Substitution - Missense
c.2402G>A; p.R801H; 19:11013076-11013076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3092G>T; p.G1031V; 19:11025432-11025432	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4188G>A; p.T1396T; 19:11041324-11041324	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4698_4699GG>TT; p.K1566_E1567>N*; 19:11059815-11059816	lung	carcinoma; adenocarcinoma	Complex - compound substitution
c.2695A>G; p.T899A; 19:11021803-11021803	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3306C>G; p.F1102L; 19:11027874-11027874	ovary	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.500G>A; p.R167Q; 19:10986333-10986333	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3306C>G; p.F1102L; 19:11027874-11027874	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1756_1758delAAG; p.K588delK; 19:10996375-10996377	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; cortisol_producing	Deletion - In frame
c.2697G>A; p.T899T; 19:11021805-11021805	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4436G>A; p.R1479H; 19:11058266-11058266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2085C>T; p.S695S; 19:11007985-11007985	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3801C>A; p.G1267G; 19:11033793-11033793	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1386C>T; p.I462I; 19:10991290-10991290	skin	malignant_melanoma	Substitution - coding silent
c.2455G>A; p.A819T; 19:11018973-11018973	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.2855_2855delA; p.K953fs*4; 19:11021963-11021963	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.561C>G; p.Y187*; 19:10986394-10986394	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1813-2A>G; p.?; 19:11003027-11003027	oesophagus	carcinoma; adenocarcinoma	Unknown
c.2049_2049delC; p.V684fs*90; 19:11007949-11007949	ovary	carcinoma	Deletion - Frameshift
c.4062G>A; p.V1354V; 19:11035024-11035024	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1674C>T; p.D558D; 19:10996293-10996293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2190_2191insG; p.Y731fs*10; 19:11010447-11010448	ovary	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.3315G>T; p.M1105I; 19:11027883-11027883	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2641G>A; p.D881N; 19:11021749-11021749	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2758G>A; p.E920K; 19:11021866-11021866	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3146C>T; p.P1049L; 19:11025486-11025486	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - Missense
c.52C>T; p.P18S; 19:10984203-10984203	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2758G>A; p.E920K; 19:11021866-11021866	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.66T>A; p.P22P; 19:10984217-10984217	skin	malignant_melanoma	Substitution - coding silent
c.2758G>A; p.E920K; 19:11021866-11021866	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4738G>T; p.E1580*; 19:11059855-11059855	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1860C>T; p.I620I; 19:11003076-11003076	breast	carcinoma	Substitution - coding silent
c.2376C>T; p.L792L; 19:11013050-11013050	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1466A>G; p.Y489C; 19:10994874-10994874	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3254_3270del17; p.L1085fs*32; 19:11027822-11027838	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3278G>A; p.R1093Q; 19:11027846-11027846	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1060C>T; p.P354S; 19:10987866-10987866	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3967C>T; p.R1323C; 19:11034929-11034929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4687_4687delA; p.I1564fs*32; 19:11059804-11059804	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.3186C>G; p.H1062Q; 19:11026317-11026317	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2920C>T; p.P974S; 19:11023578-11023578	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3484G>T; p.G1162C; 19:11030831-11030831	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2287_2288insG; p.E763fs*61; 19:11012961-11012962	ovary	carcinoma; small_cell_carcinoma	Insertion - Frameshift
c.513A>G; p.P171P; 19:10986346-10986346	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.3426C>A; p.F1142L; 19:11030773-11030773	breast	carcinoma	Substitution - Missense
c.513A>G; p.P171P; 19:10986346-10986346	liver	carcinoma	Substitution - coding silent
c.2294T>G; p.L765R; 19:11012968-11012968	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.513A>G; p.P171P; 19:10986346-10986346	liver	carcinoma	Substitution - coding silent
c.3713C>T; p.S1238F; 19:11033456-11033456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3610C>T; p.L1204F; 19:11033353-11033353	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3359G>T; p.G1120V; 19:11027927-11027927	ovary	other; neoplasm	Substitution - Missense
c.3610C>T; p.L1204F; 19:11033353-11033353	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.3713C>T; p.S1238F; 19:11033456-11033456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.98G>A; p.G33D; 19:10984249-10984249	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3374G>T; p.R1125M; 19:11027942-11027942	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3857_3858AG>CA; p.E1286A; 19:11033849-11033850	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.991C>T; p.Q331*; 19:10987797-10987797	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1419+5G>T; p.?; 19:10991328-10991328	pancreas	carcinoma; ductal_carcinoma	Unknown
c.1419+5G>T; p.?; 19:10991328-10991328	pancreas	carcinoma; ductal_carcinoma	Unknown
c.991C>T; p.Q331*; 19:10987797-10987797	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2838_2838delC; p.F947fs*3; 19:11021946-11021946	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.3580G>T; p.G1194W; 19:11033323-11033323	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.957A>C; p.P319P; 19:10987763-10987763	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.3694G>T; p.G1232C; 19:11033437-11033437	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1562G>C; p.R521P; 19:10994970-10994970	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3694G>T; p.G1232C; 19:11033437-11033437	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2298G>A; p.V766V; 19:11012972-11012972	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3694G>T; p.G1232C; 19:11033437-11033437	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3565C>G; p.R1189G; 19:11033308-11033308	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.2687T>A; p.V896E; 19:11021795-11021795	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	pancreas	carcinoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	pancreas	carcinoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.2682G>A; p.T894T; 19:11021790-11021790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3694G>A; p.G1232S; 19:11033437-11033437	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3694G>A; p.G1232S; 19:11033437-11033437	pancreas	carcinoma	Substitution - Missense
c.3523G>A; p.D1175N; 19:11030870-11030870	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3547G>A; p.D1183N; 19:11033290-11033290	pancreas	carcinoma	Substitution - Missense
c.2933G>A; p.R978Q; 19:11023591-11023591	skin	malignant_melanoma	Substitution - Missense
c.3157delC; p.Q1053fs*53; 19:11025497-11025497	skin; axilla	malignant_melanoma	Deletion - Frameshift
c.2933G>A; p.R978Q; 19:11023591-11023591	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4243C>T; p.R1415*; 19:11041379-11041379	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4226C>A; p.S1409*; 19:11041362-11041362	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3403C>T; p.R1135W; 19:11030750-11030750	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.729delC; p.P244fs*59; 19:10986562-10986562	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.3403C>T; p.R1135W; 19:11030750-11030750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3403C>T; p.R1135W; 19:11030750-11030750	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1842C>T; p.D614D; 19:11003058-11003058	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1121T>C; p.L374P; 19:10989319-10989319	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3229C>T; p.R1077*; 19:11027797-11027797	pancreas	NS	Substitution - Nonsense
c.3229C>T; p.R1077*; 19:11027797-11027797	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Nonsense
c.2654G>A; p.R885H; 19:11021762-11021762	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2439-1G>A; p.?; 19:11018956-11018956	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2654G>A; p.R885H; 19:11021762-11021762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2440A>G; p.T814A; 19:11018958-11018958	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3306C>A; p.F1102L; 19:11027874-11027874	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.820G>A; p.G274S; 19:10986964-10986964	skin	malignant_melanoma	Substitution - Missense
c.2837C>T; p.P946L; 19:11021945-11021945	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3478G>C; p.G1160R; 19:11030825-11030825	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1105G>A; p.E369K; 19:10987911-10987911	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1055T>C; p.I352T; 19:10987861-10987861	kidney	other; neoplasm	Substitution - Missense
c.1367T>C; p.L456P; 19:10991271-10991271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4615T>C; p.F1539L; 19:11058869-11058869	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3424T>G; p.F1142V; 19:11030771-11030771	kidney	other; neoplasm	Substitution - Missense
c.3363_3366delTAAA; p.K1122fs*17; 19:11027931-11027934	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2207A>G; p.H736R; 19:11010464-11010464	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3424T>G; p.F1142V; 19:11030771-11030771	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3056C>T; p.T1019I; 19:11024413-11024413	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.589C>G; p.P197A; 19:10986422-10986422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3166G>T; p.E1056*; 19:11025506-11025506	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1130G>A; p.R377H; 19:10989328-10989328	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4270C>T; p.P1424S; 19:11041406-11041406	skin	malignant_melanoma	Substitution - Missense
c.3380A>G; p.D1127G; 19:11027948-11027948	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1907C>T; p.A636V; 19:11003123-11003123	pancreas	carcinoma	Substitution - Missense
c.3304T>C; p.F1102L; 19:11027872-11027872	pancreas	carcinoma	Substitution - Missense
c.2766G>A; p.W922*; 19:11021874-11021874	ovary	carcinoma	Substitution - Nonsense
c.2521A>C; p.R841R; 19:11019606-11019606	liver	carcinoma	Substitution - coding silent
c.2521A>C; p.R841R; 19:11019606-11019606	liver	carcinoma	Substitution - coding silent
c.4338G>A; p.P1446P; 19:11041474-11041474	breast	carcinoma	Substitution - coding silent
c.3304T>C; p.F1102L; 19:11027872-11027872	central_nervous_system; brainstem	primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype	Substitution - Missense
c.4338G>A; p.P1446P; 19:11041474-11041474	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3304T>C; p.F1102L; 19:11027872-11027872	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1183G>T; p.D395Y; 19:10989381-10989381	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3493C>T; p.L1165F; 19:11030840-11030840	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3493C>T; p.L1165F; 19:11030840-11030840	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4675_4678delAGCG; p.S1559fs*36; 19:11059792-11059795	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.2362C>T; p.Q788*; 19:11013036-11013036	ovary	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1590C>G; p.L530L; 19:10994998-10994998	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.233_237CCATG>ACC; p.S78fs*3; 19:10985283-10985287	ovary	carcinoma; small_cell_carcinoma	Complex - frameshift
c.2781C>T; p.F927F; 19:11021889-11021889	skin	malignant_melanoma	Substitution - coding silent
c.829C>T; p.P277S; 19:10986973-10986973	skin	malignant_melanoma	Substitution - Missense
c.3702C>G; p.F1234L; 19:11033445-11033445	central_nervous_system; brain	glioma	Substitution - Missense
c.1458C>G; p.F486L; 19:10994866-10994866	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2441C>A; p.T814K; 19:11018959-11018959	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.995_996CC>TT; p.S332F; 19:10987801-10987802	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2989delA; p.K997fs*22; 19:11024346-11024346	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.130G>A; p.G44R; 19:10984281-10984281	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1216G>A; p.A406T; 19:10989414-10989414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.809_810delCC; p.P270fs*16; 19:10986953-10986954	lung	carcinoma; non_small_cell_carcinoma	Deletion - Frameshift
c.4852C>T; p.R1618*; 19:11060128-11060128	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1761G>T; p.?; 19:10996380-10996380	prostate	carcinoma; adenocarcinoma	Unknown
c.2859+1G>A; p.?; 19:11021968-11021968	ovary	carcinoma; small_cell_carcinoma	Unknown
c.2729C>T; p.T910M; 19:11021837-11021837	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3695G>A; p.G1232D; 19:11033438-11033438	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.538C>T; p.L180F; 19:10986371-10986371	breast	carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; cerebellum	primitive_neuroectodermal_tumour-medulloblastoma; SHH_subtype	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	pancreas	carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	pancreas	carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; large_cell	Substitution - Missense
c.2074G>T; p.D692Y; 19:11007974-11007974	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2729C>T; p.T910M; 19:11021837-11021837	pancreas	carcinoma	Substitution - Missense
c.3729_3730delGC; p.A1245fs*13; 19:11033472-11033473	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2729C>T; p.T910M; 19:11021837-11021837	central_nervous_system; medulla	primitive_neuroectodermal_tumour-medulloblastoma; classic	Substitution - Missense
c.1039C>T; p.Q347*; 19:10987845-10987845	lung	carcinoid-endocrine_tumour; atypical	Substitution - Nonsense
c.4315A>C; p.K1439Q; 19:11041451-11041451	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2620C>T; p.R874C; 19:11021728-11021728	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4557C>T; p.Y1519Y; 19:11058811-11058811	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2620C>T; p.R874C; 19:11021728-11021728	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4410C>T; p.I1470I; 19:11041546-11041546	skin	malignant_melanoma	Substitution - coding silent
c.2738C>T; p.P913L; 19:11021846-11021846	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3475G>T; p.G1159W; 19:11030822-11030822	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4089_4090GG>TT; p.E1363_E1364>D*; 19:11035051-11035052	lung	carcinoma; adenocarcinoma	Complex - compound substitution
c.2620C>T; p.R874C; 19:11021728-11021728	skin	malignant_melanoma	Substitution - Missense
c.1135G>A; p.A379T; 19:10989333-10989333	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3575G>A; p.R1192H; 19:11033318-11033318	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1135G>A; p.A379T; 19:10989333-10989333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3575G>A; p.R1192H; 19:11033318-11033318	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2300C>T; p.S767F; 19:11012974-11012974	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3575G>A; p.R1192H; 19:11033318-11033318	central_nervous_system; brain	glioma	Substitution - Missense
c.2300C>T; p.S767F; 19:11012974-11012974	skin; arm	malignant_melanoma	Substitution - Missense
c.3470G>A; p.R1157Q; 19:11030817-11030817	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3470G>A; p.R1157Q; 19:11030817-11030817	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2578T>C; p.Y860H; 19:11019663-11019663	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3485G>T; p.G1162V; 19:11030832-11030832	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3774+1G>A; p.?; 19:11033518-11033518	pancreas	carcinoma	Unknown
c.1631A>C; p.Q544P; 19:10996250-10996250	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3531_3531delC; p.W1178fs*38; 19:11030878-11030878	ovary	carcinoma; small_cell_carcinoma	Deletion - Frameshift
c.589C>T; p.P197S; 19:10986422-10986422	breast	carcinoma	Substitution - Missense
c.3356G>A; p.R1119H; 19:11027924-11027924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.945_946CC>TT; p.P316S; 19:10987751-10987752	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.793C>T; p.P265S; 19:10986937-10986937	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2484C>G; p.S828S; 19:11019002-11019002	breast	carcinoma	Substitution - coding silent
c.2220G>A; p.E740E; 19:11010477-11010477	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1959G>A; p.P653P; 19:11003355-11003355	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3584A>T; p.Q1195L; 19:11033327-11033327	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1959G>A; p.P653P; 19:11003355-11003355	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4015G>T; p.E1339*; 19:11034977-11034977	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2170C>T; p.L724F; 19:11010427-11010427	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4271C>T; p.P1424L; 19:11041407-11041407	skin; leg	malignant_melanoma	Substitution - Missense
c.4271C>T; p.P1424L; 19:11041407-11041407	skin; leg	malignant_melanoma	Substitution - Missense
c.1141C>T; p.R381*; 19:10989339-10989339	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1141C>T; p.R381*; 19:10989339-10989339	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4170+1G>A; p.?; 19:11035133-11035133	ovary	carcinoma; small_cell_carcinoma	Unknown
c.3539C>A; p.P1180H; 19:11030886-11030886	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.3125T>C; p.L1042P; 19:11025465-11025465	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.517A>C; p.N173H; 19:10986350-10986350	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2450_2458delACTGGGCGT; p.W818_Y820delWAY; 19:11018968-11018976	oesophagus	carcinoma; adenocarcinoma	Deletion - In frame
c.3475delG; p.L1161fs*3; 19:11030822-11030822	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4113C>A; p.S1371S; 19:11035075-11035075	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.3475delG; p.L1161fs*3; 19:11030822-11030822	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2322C>T; p.N774N; 19:11012996-11012996	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4329C>T; p.R1443R; 19:11041465-11041465	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation