Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

2042

Name

EPHA3

Synonymous

EPH receptor A3;EPHA3;EPH receptor A3

Definition

EPH-like kinase 4|TYRO4 protein tyrosine kinase|eph-like tyrosine kinase 1|ephrin type-A receptor 3|human embryo kinase 1|tyrosine-protein kinase receptor ETK1

Position

3p11.2

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.08.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1826T>C; p.V609A; 3:89413204-89413204

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1305T>C; p.A435A; 3:89342089-89342089

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.701C>A; p.S234Y; 3:89210407-89210407

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1099G>T; p.G367W; 3:89341883-89341883

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.807G>A; p.M269I; 3:89210513-89210513

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1178C>A; p.T393K; 3:89341962-89341962

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1066G>A; p.D356N; 3:89341850-89341850

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1843G>A; p.E615K; 3:89413221-89413221

skinmalignant_melanomaSubstitution - Missense

c.2903G>A; p.S968N; 3:89479453-89479453

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.663G>T; p.Q221H; 3:89210369-89210369

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.879C>T; p.H293H; 3:89340980-89340980

pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.2821G>A; p.D941N; 3:89472594-89472594

skin; extremitymalignant_melanomaSubstitution - Missense

c.1237A>T; p.N413Y; 3:89342021-89342021

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2030T>A; p.F677Y; 3:89419346-89419346

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.722G>A; p.R241K; 3:89210428-89210428

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.620A>C; p.K207T; 3:89210326-89210326

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2298A>G; p.G766G; 3:89431311-89431311

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2030T>A; p.F677Y; 3:89419346-89419346

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.620A>C; p.K207T; 3:89210326-89210326

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2741G>A; p.R914H; 3:89472514-89472514

skinmalignant_melanomaSubstitution - Missense

c.2741G>A; p.R914H; 3:89472514-89472514

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2686G>A; p.A896T; 3:89450366-89450366

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1646C>T; p.A549V; 3:89407320-89407320

kidneyother; neoplasmSubstitution - Missense

c.1337A>G; p.D446G; 3:89395867-89395867

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2515G>T; p.E839*; 3:89450195-89450195

breastcarcinomaSubstitution - Nonsense

c.2314G>A; p.E772K; 3:89431327-89431327

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2295C>T; p.F765F; 3:89431308-89431308

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2295C>T; p.F765F; 3:89431308-89431308

skinmalignant_melanomaSubstitution - coding silent

c.2042A>G; p.N681S; 3:89419358-89419358

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.80C>A; p.S27Y; 3:89107828-89107828

oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.616G>T; p.V206L; 3:89210322-89210322

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1952C>T; p.A651V; 3:89419268-89419268

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1347C>T; p.S449S; 3:89395877-89395877

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1989G>A; p.Q663Q; 3:89419305-89419305

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1347C>T; p.S449S; 3:89395877-89395877

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1727C>A; p.A576E; 3:89408096-89408096

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2002C>A; p.L668M; 3:89419318-89419318

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.920A>T; p.E307V; 3:89341021-89341021

livercarcinomaSubstitution - Missense

c.1515C>A; p.Y505*; 3:89399401-89399401

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.866A>T; p.K289M; 3:89340967-89340967

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1773A>C; p.P591P; 3:89413151-89413151

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.2345G>T; p.R782I; 3:89431358-89431358

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1773A>C; p.P591P; 3:89413151-89413151

livercarcinomaSubstitution - coding silent

c.500A>G; p.E167G; 3:89210206-89210206

ovaryother; neoplasmSubstitution - Missense

c.1773A>C; p.P591P; 3:89413151-89413151

livercarcinomaSubstitution - coding silent

c.2494G>A; p.D832N; 3:89449372-89449372

breastcarcinomaSubstitution - Missense

c.500A>G; p.E167G; 3:89210206-89210206

ovaryother; neoplasmSubstitution - Missense

c.2788G>A; p.E930K; 3:89472561-89472561

skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.2788G>A; p.E930K; 3:89472561-89472561

skinmalignant_melanomaSubstitution - Missense

c.2788G>A; p.E930K; 3:89472561-89472561

skinmalignant_melanomaSubstitution - Missense

c.2497-2A>T; p.?; 3:89450175-89450175

stomachcarcinoma; adenocarcinomaUnknown

c.1065A>G; p.K355K; 3:89341849-89341849

pancreascarcinomaSubstitution - coding silent

c.2788G>A; p.E930K; 3:89472561-89472561

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2305C>G; p.R769G; 3:89431318-89431318

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1527C>A; p.I509I; 3:89399413-89399413

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1340G>A; p.R447Q; 3:89395870-89395870

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2421A>G; p.V807V; 3:89449299-89449299

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2275G>T; p.V759L; 3:89431288-89431288

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2734A>T; p.T912S; 3:89472507-89472507

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.178G>A; p.E60K; 3:89209884-89209884

skinmalignant_melanomaSubstitution - Missense

c.470T>A; p.L157H; 3:89210176-89210176

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1958A>G; p.K653R; 3:89419274-89419274

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1665C>A; p.L555L; 3:89407339-89407339

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1834T>A; p.F612I; 3:89413212-89413212

livercarcinomaSubstitution - Missense

c.1687T>G; p.L563V; 3:89407361-89407361

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.665C>T; p.S222F; 3:89210371-89210371

skinmalignant_melanomaSubstitution - Missense

c.1834T>A; p.F612I; 3:89413212-89413212

livercarcinomaSubstitution - Missense

c.1951G>A; p.A651T; 3:89419267-89419267

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1635C>A; p.I545I; 3:89407309-89407309

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.927T>A; p.N309K; 3:89341028-89341028

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1957A>G; p.K653E; 3:89419273-89419273

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.271T>C; p.S91P; 3:89209977-89209977

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.600A>C; p.K200N; 3:89210306-89210306

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2730C>T; p.I910I; 3:89472503-89472503

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2690G>T; p.R897M; 3:89450370-89450370

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.2478G>A; p.W826*; 3:89449356-89449356

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2478G>A; p.W826*; 3:89449356-89449356

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2572C>T; p.L858L; 3:89450252-89450252

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2112_2119delTGGTTCCT; p.S706fs*1; 3:89429143-89429150

breastcarcinomaDeletion - Frameshift

c.1806T>C; p.Y602Y; 3:89413184-89413184

pancreascarcinomaSubstitution - coding silent

c.213C>T; p.C71C; 3:89209919-89209919

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2156C>T; p.T719I; 3:89431169-89431169

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.364C>A; p.L122M; 3:89210070-89210070

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2323C>G; p.P775A; 3:89431336-89431336

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1874A>C; p.K625T; 3:89413252-89413252

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.364C>A; p.L122M; 3:89210070-89210070

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.364C>A; p.L122M; 3:89210070-89210070

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.364C>A; p.L122M; 3:89210070-89210070

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1198C>T; p.L400L; 3:89341982-89341982

skinmalignant_melanomaSubstitution - coding silent

c.385G>T; p.D129Y; 3:89210091-89210091

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1140C>T; p.V380V; 3:89341924-89341924

breastcarcinomaSubstitution - coding silent

c.2771G>T; p.W924L; 3:89472544-89472544

livercarcinomaSubstitution - Missense

c.1026C>T; p.I342I; 3:89341810-89341810

skinmalignant_melanomaSubstitution - coding silent

c.1188G>T; p.V396V; 3:89341972-89341972

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2771G>T; p.W924L; 3:89472544-89472544

livercarcinomaSubstitution - Missense

c.2268T>C; p.S756S; 3:89431281-89431281

skinmalignant_melanomaSubstitution - coding silent

c.2282A>G; p.K761R; 3:89431295-89431295

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.266G>C; p.R89T; 3:89209972-89209972

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1497C>G; p.L499L; 3:89399383-89399383

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1339C>T; p.R447W; 3:89395869-89395869

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1516G>A; p.V506I; 3:89399402-89399402

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2034C>T; p.D678D; 3:89419350-89419350

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1339C>T; p.R447W; 3:89395869-89395869

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1410C>A; p.Y470*; 3:89395940-89395940

large_intestineadenomaSubstitution - Nonsense

c.2700C>T; p.N900N; 3:89472473-89472473

skinmalignant_melanomaSubstitution - coding silent

c.2743A>G; p.T915A; 3:89472516-89472516

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.634T>A; p.F212I; 3:89210340-89210340

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1926T>G; p.L642L; 3:89419242-89419242

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2533delC; p.M847fs*10; 3:89450213-89450213

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1022T>C; p.V341A; 3:89341806-89341806

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2921C>T; p.T974M; 3:89479471-89479471

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2533delC; p.M847fs*10; 3:89450213-89450213

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2590G>T; p.D864Y; 3:89450270-89450270

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.204C>G; p.Y68*; 3:89209910-89209910

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1552_1553GG>TT; p.G518L; 3:89399438-89399439

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1552_1553GG>TT; p.G518L; 3:89399438-89399439

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2772G>T; p.W924C; 3:89472545-89472545

livercarcinomaSubstitution - Missense

c.2420T>C; p.V807A; 3:89449298-89449298

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2420T>C; p.V807A; 3:89449298-89449298

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2772G>T; p.W924C; 3:89472545-89472545

livercarcinomaSubstitution - Missense

c.2248C>T; p.R750W; 3:89431261-89431261

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1677C>A; p.V559V; 3:89407351-89407351

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2774C>A; p.T925K; 3:89472547-89472547

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1581A>T; p.E527D; 3:89399467-89399467

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.514G>T; p.G172C; 3:89210220-89210220

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1458T>G; p.I486M; 3:89399344-89399344

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1432C>A; p.Q478K; 3:89399318-89399318

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1849G>T; p.D617Y; 3:89413227-89413227

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4G>A; p.D2N; 3:89107752-89107752

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.2304G>A; p.S768S; 3:89431317-89431317

livercarcinomaSubstitution - coding silent

c.2947G>A; p.V983M; 3:89479497-89479497

large_intestine; colonNSSubstitution - Missense

c.2947G>A; p.V983M; 3:89479497-89479497

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2304G>A; p.S768S; 3:89431317-89431317

livercarcinomaSubstitution - coding silent

c.2433G>T; p.G811G; 3:89449311-89449311

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.197G>A; p.R66K; 3:89209903-89209903

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247A>G; p.R83G; 3:89209953-89209953

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1070T>C; p.V357A; 3:89341854-89341854

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.873G>T; p.P291P; 3:89340974-89340974

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2475C>A; p.Y825*; 3:89449353-89449353

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1662T>C; p.I554I; 3:89407336-89407336

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.544G>T; p.A182S; 3:89210250-89210250

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1863A>G; p.I621M; 3:89413241-89413241

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1863A>G; p.I621M; 3:89413241-89413241

livercarcinomaSubstitution - Missense

c.1629C>T; p.V543V; 3:89407303-89407303

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.407G>A; p.R136Q; 3:89210113-89210113

skinmalignant_melanomaSubstitution - Missense

c.2220G>A; p.M740I; 3:89431233-89431233

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1179G>T; p.T393T; 3:89341963-89341963

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1179G>T; p.T393T; 3:89341963-89341963

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.282G>A; p.K94K; 3:89209988-89209988

skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.407G>A; p.R136Q; 3:89210113-89210113

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1356C>T; p.S452S; 3:89395886-89395886

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1179G>T; p.T393T; 3:89341963-89341963

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1101G>T; p.G367G; 3:89341885-89341885

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2088G>T; p.M696I; 3:89429119-89429119

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1668C>G; p.L556L; 3:89407342-89407342

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2741G>T; p.R914L; 3:89472514-89472514

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1308_1309TC>AA; p.A436>?; 3:89395838-89395839

lungcarcinoma; adenocarcinomaComplex

c.2054T>C; p.L685P; 3:89419370-89419370

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2649G>C; p.R883R; 3:89450329-89450329

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.253A>G; p.N85D; 3:89209959-89209959

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.709G>A; p.E237K; 3:89210415-89210415

skin; upper_legmalignant_melanomaSubstitution - Missense

c.142C>G; p.P48A; 3:89127262-89127262

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1365G>C; p.L455F; 3:89395895-89395895

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1907G>T; p.C636F; 3:89419223-89419223

stomachcarcinomaSubstitution - Missense

c.175G>T; p.D59Y; 3:89209881-89209881

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947A>C; p.D316A; 3:89341048-89341048

breastcarcinomaSubstitution - Missense

c.1568A>C; p.K523T; 3:89399454-89399454

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.119G>A; p.G40E; 3:89127239-89127239

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1123C>T; p.P375S; 3:89341907-89341907

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1963C>T; p.L655L; 3:89419279-89419279

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1543delG; p.A515fs*30; 3:89399429-89399429

livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.1765A>C; p.K589Q; 3:89413143-89413143

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1543delG; p.A515fs*30; 3:89399429-89399429

livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.267G>A; p.R89R; 3:89209973-89209973

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.267G>T; p.R89S; 3:89209973-89209973

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2283G>T; p.K761N; 3:89431296-89431296

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.224A>G; p.D75G; 3:89209930-89209930

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2445G>A; p.W815*; 3:89449323-89449323

skinmalignant_melanomaSubstitution - Nonsense

c.153G>T; p.G51G; 3:89127273-89127273

breastcarcinomaSubstitution - coding silent

c.2208C>T; p.Y736Y; 3:89431221-89431221

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.750G>T; p.W250C; 3:89210456-89210456

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.476A>G; p.D159G; 3:89210182-89210182

large_intestine; colonNSSubstitution - Missense

c.2530C>T; p.P844S; 3:89450210-89450210

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2297G>T; p.G766V; 3:89431310-89431310

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1457T>C; p.I486T; 3:89399343-89399343

breastcarcinomaSubstitution - Missense

c.1379C>A; p.P460H; 3:89395909-89395909

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1347C>A; p.S449S; 3:89395877-89395877

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.440C>T; p.A147V; 3:89210146-89210146

skinmalignant_melanomaSubstitution - Missense

c.2416G>A; p.D806N; 3:89449294-89449294

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2540T>A; p.M847K; 3:89450220-89450220

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.806T>C; p.M269T; 3:89210512-89210512

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.438T>G; p.I146M; 3:89210144-89210144

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.485T>A; p.L162Q; 3:89210191-89210191

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.716C>T; p.P239L; 3:89210422-89210422

skinmalignant_melanomaSubstitution - Missense

c.1641T>A; p.I547I; 3:89407315-89407315

pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.758C>A; p.P253H; 3:89210464-89210464

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1898G>A; p.G633E; 3:89419214-89419214

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1641T>A; p.I547I; 3:89407315-89407315

pancreascarcinomaSubstitution - coding silent

c.935G>A; p.R312Q; 3:89341036-89341036

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1875A>G; p.K625K; 3:89413253-89413253

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.935G>A; p.R312Q; 3:89341036-89341036

livercarcinomaSubstitution - Missense

c.935G>A; p.R312Q; 3:89341036-89341036

livercarcinomaSubstitution - Missense

c.2748A>G; p.T916T; 3:89472521-89472521

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1179G>A; p.T393T; 3:89341963-89341963

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1462A>T; p.R488W; 3:89399348-89399348

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.970+1G>T; p.?; 3:89341072-89341072

lungcarcinoma; adenocarcinomaUnknown

c.1435G>A; p.E479K; 3:89399321-89399321

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.745G>A; p.E249K; 3:89210451-89210451

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1636G>A; p.A546T; 3:89407310-89407310

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1636G>A; p.A546T; 3:89407310-89407310

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1672G>A; p.V558I; 3:89407346-89407346

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.110C>A; p.T37K; 3:89127230-89127230

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1944T>C; p.I648I; 3:89419260-89419260

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1375G>T; p.E459*; 3:89395905-89395905

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.119G>T; p.G40V; 3:89127239-89127239

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1535G>A; p.R512Q; 3:89399421-89399421

breastcarcinomaSubstitution - Missense

c.1233C>A; p.A411A; 3:89342017-89342017

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1357A>G; p.I453V; 3:89395887-89395887

kidneyother; neoplasmSubstitution - Missense

c.1811A>T; p.D604V; 3:89413189-89413189

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2835G>C; p.K945N; 3:89472608-89472608

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1525A>T; p.I509F; 3:89399411-89399411

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.282G>T; p.K94N; 3:89209988-89209988

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2408C>T; p.S803L; 3:89449286-89449286

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1228G>C; p.D410H; 3:89342012-89342012

oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.282G>T; p.K94N; 3:89209988-89209988

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1142G>A; p.R381H; 3:89341926-89341926

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1058G>T; p.G353V; 3:89341842-89341842

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1020A>C; p.S340S; 3:89341804-89341804

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.392A>G; p.H131R; 3:89210098-89210098

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.911G>C; p.C304S; 3:89341012-89341012

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2423G>T; p.W808L; 3:89449301-89449301

oesophaguscarcinomaSubstitution - Missense

c.1090delA; p.K365fs*6; 3:89341874-89341874

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.236A>T; p.N79I; 3:89209942-89209942

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1915C>T; p.R639C; 3:89419231-89419231

skinmalignant_melanomaSubstitution - Missense

c.2691G>A; p.R897R; 3:89472464-89472464

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.970+7A>T; p.?; 3:89341078-89341078

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1891G>A; p.E631K; 3:89419207-89419207

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1440A>T; p.Q480H; 3:89399326-89399326

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.98T>G; p.L33R; 3:89127218-89127218

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2496T>C; p.D832D; 3:89449374-89449374

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.341G>A; p.G114E; 3:89210047-89210047

NSmalignant_melanomaSubstitution - Missense

c.621G>A; p.K207K; 3:89210327-89210327

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.623A>C; p.N208T; 3:89210329-89210329

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.621G>A; p.K207K; 3:89210327-89210327

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.341G>A; p.G114E; 3:89210047-89210047

skinmalignant_melanomaSubstitution - Missense

c.2418T>C; p.D806D; 3:89449296-89449296

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1595-3C>T; p.?; 3:89407266-89407266

livercarcinomaUnknown

c.2418T>C; p.D806D; 3:89449296-89449296

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1734A>C; p.E578D; 3:89408103-89408103

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.687T>C; p.S229S; 3:89210393-89210393

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.687T>C; p.S229S; 3:89210393-89210393

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1595-3C>T; p.?; 3:89407266-89407266

livercarcinomaUnknown

c.687T>C; p.S229S; 3:89210393-89210393

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2143G>T; p.D715Y; 3:89431156-89431156

kidneyother; neoplasmSubstitution - Missense

c.687T>C; p.S229S; 3:89210393-89210393

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1810G>T; p.D604Y; 3:89413188-89413188

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2423G>A; p.W808*; 3:89449301-89449301

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Nonsense

c.1601C>T; p.S534F; 3:89407275-89407275

skinmalignant_melanomaSubstitution - Missense

c.109A>G; p.T37A; 3:89127229-89127229

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.109A>G; p.T37A; 3:89127229-89127229

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1941G>T; p.E647D; 3:89419257-89419257

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2607C>G; p.P869P; 3:89450287-89450287

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2494G>T; p.D832Y; 3:89449372-89449372

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.109A>G; p.T37A; 3:89127229-89127229

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2870C>T; p.T957I; 3:89479420-89479420

skinmalignant_melanomaSubstitution - Missense

c.1583C>A; p.T528N; 3:89399469-89399469

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2579G>A; p.C860Y; 3:89450259-89450259

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2282A>T; p.K761M; 3:89431295-89431295

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1925T>G; p.L642R; 3:89419241-89419241

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2845G>A; p.D949N; 3:89472618-89472618

skinmalignant_melanomaSubstitution - Missense

c.1925T>G; p.L642R; 3:89419241-89419241

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2845G>A; p.D949N; 3:89472618-89472618

skinmalignant_melanomaSubstitution - Missense

c.1792G>A; p.D598N; 3:89413170-89413170

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1925T>G; p.L642R; 3:89419241-89419241

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2173G>C; p.G725R; 3:89431186-89431186

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.573C>G; p.A191A; 3:89210279-89210279

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2288C>T; p.S763F; 3:89431301-89431301

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.2774C>T; p.T925I; 3:89472547-89472547

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.561T>G; p.G187G; 3:89210267-89210267

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2310C>T; p.V770V; 3:89431323-89431323

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2187G>A; p.G729G; 3:89431200-89431200

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1986G>A; p.K662K; 3:89419302-89419302

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.934C>T; p.R312W; 3:89341035-89341035

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1682A>T; p.Y561F; 3:89407356-89407356

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.318C>A; p.C106*; 3:89210024-89210024

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2285T>G; p.V762G; 3:89431298-89431298

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.662A>T; p.Q221L; 3:89210368-89210368

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2262C>A; p.I754I; 3:89431275-89431275

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1969G>T; p.V657F; 3:89419285-89419285

bone; ribEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2222G>A; p.G741D; 3:89431235-89431235

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.631A>G; p.M211V; 3:89210337-89210337

livercarcinomaSubstitution - Missense

c.2060G>A; p.G687E; 3:89419376-89419376

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.329C>T; p.P110L; 3:89210035-89210035

skinmalignant_melanomaSubstitution - Missense

c.28C>T; p.L10F; 3:89107776-89107776

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1246T>C; p.S416P; 3:89342030-89342030

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2181T>C; p.L727L; 3:89431194-89431194

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.148C>T; p.H50Y; 3:89127268-89127268

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.799G>T; p.G267C; 3:89210505-89210505

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2584C>T; p.Q862*; 3:89450264-89450264

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.237C>A; p.N79K; 3:89209943-89209943

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1405G>A; p.D469N; 3:89395935-89395935

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1405G>A; p.D469N; 3:89395935-89395935

breastcarcinomaSubstitution - Missense

c.484C>T; p.L162L; 3:89210190-89210190

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1968A>C; p.K656N; 3:89419284-89419284

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.970+1G>A; p.?; 3:89341072-89341072

lungcarcinoma; adenocarcinomaUnknown

c.1819C>A; p.Q607K; 3:89413197-89413197

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.970+1G>A; p.?; 3:89341072-89341072

lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.1759C>T; p.H587Y; 3:89408128-89408128

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1240G>A; p.G414R; 3:89342024-89342024

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2641C>A; p.L881I; 3:89450321-89450321

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1320C>A; p.V440V; 3:89395850-89395850

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.696C>A; p.N232K; 3:89210402-89210402

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.559G>A; p.G187S; 3:89210265-89210265

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1336G>T; p.D446Y; 3:89395866-89395866

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2800G>A; p.G934S; 3:89472573-89472573

skinmalignant_melanomaSubstitution - Missense

c.559G>A; p.G187S; 3:89210265-89210265

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1861A>C; p.I621L; 3:89413239-89413239

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2537C>T; p.P846L; 3:89450217-89450217

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.254A>G; p.N85S; 3:89209960-89209960

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.254A>G; p.N85S; 3:89209960-89209960

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.254A>G; p.N85S; 3:89209960-89209960

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.254A>G; p.N85S; 3:89209960-89209960

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2537C>T; p.P846L; 3:89450217-89450217

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.855G>A; p.M285I; 3:89340956-89340956

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.855G>A; p.M285I; 3:89340956-89340956

skinmalignant_melanomaSubstitution - Missense

c.2472A>T; p.P824P; 3:89449350-89449350

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1072A>G; p.T358A; 3:89341856-89341856

prostatecarcinomaSubstitution - Missense

c.1522C>A; p.Q508K; 3:89399408-89399408

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.995T>C; p.V332A; 3:89341779-89341779

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.676G>A; p.V226I; 3:89210382-89210382

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2734A>G; p.T912A; 3:89472507-89472507

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1402T>G; p.L468V; 3:89395932-89395932

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2946C>T; p.P982P; 3:89479496-89479496

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.686C>A; p.S229Y; 3:89210392-89210392

lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.686C>A; p.S229Y; 3:89210392-89210392

lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.248G>A; p.R83K; 3:89209954-89209954

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.318C>T; p.C106C; 3:89210024-89210024

prostatecarcinomaSubstitution - coding silent

c.453T>C; p.S151S; 3:89210159-89210159

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.834C>A; p.Y278*; 3:89340935-89340935

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.248G>A; p.R83K; 3:89209954-89209954

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2611T>G; p.F871V; 3:89450291-89450291

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2184A>G; p.R728R; 3:89431197-89431197

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2922G>A; p.T974T; 3:89479472-89479472

prostatecarcinomaSubstitution - coding silent

c.1180G>A; p.V394M; 3:89341964-89341964

skinmalignant_melanomaSubstitution - Missense

c.2184A>G; p.R728R; 3:89431197-89431197

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1271A>G; p.Q424R; 3:89342055-89342055

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.790G>A; p.E264K; 3:89210496-89210496

skinmalignant_melanomaSubstitution - Missense

c.2372C>T; p.T791I; 3:89449250-89449250

prostateadenomaSubstitution - Missense

c.2175G>A; p.G725G; 3:89431188-89431188

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.620A>T; p.K207M; 3:89210326-89210326

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1097G>T; p.C366F; 3:89341881-89341881

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2648G>A; p.R883Q; 3:89450328-89450328

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1760A>T; p.H587L; 3:89408129-89408129

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1381G>T; p.E461*; 3:89395911-89395911

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Nonsense

c.2518G>A; p.G840S; 3:89450198-89450198

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2056G>A; p.E686K; 3:89419372-89419372

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1564C>A; p.R522S; 3:89399450-89399450

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1381G>T; p.E461*; 3:89395911-89395911

kidneyother; neoplasmSubstitution - Nonsense

c.957C>T; p.S319S; 3:89341058-89341058

skinmalignant_melanomaSubstitution - coding silent

c.957C>T; p.S319S; 3:89341058-89341058

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.466G>A; p.D156N; 3:89210172-89210172

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.771T>A; p.C257*; 3:89210477-89210477

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1132C>A; p.P378T; 3:89341916-89341916

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2882C>G; p.P961R; 3:89479432-89479432

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.748T>A; p.W250R; 3:89210454-89210454

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.236A>C; p.N79T; 3:89209942-89209942

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.304A>T; p.T102S; 3:89210010-89210010

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.54C>A; p.S18R; 3:89107802-89107802

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1692T>C; p.I564I; 3:89407366-89407366

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1236T>C; p.V412V; 3:89342020-89342020

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2305C>A; p.R769S; 3:89431318-89431318

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.602A>C; p.K201T; 3:89210308-89210308

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1502C>T; p.P501L; 3:89399388-89399388

skinmalignant_melanomaSubstitution - Missense

c.2266A>G; p.S756G; 3:89431279-89431279

central_nervous_system; braingliomaSubstitution - Missense

c.1932_1933insA; p.E647fs*7; 3:89419248-89419249

stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.65T>A; p.L22Q; 3:89107813-89107813

ovaryother; neoplasmSubstitution - Missense

c.1918T>A; p.L640I; 3:89419234-89419234

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1361C>T; p.S454F; 3:89395891-89395891

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.311G>A; p.R104Q; 3:89210017-89210017

skinmalignant_melanomaSubstitution - Missense

c.2415C>G; p.S805R; 3:89449293-89449293

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.311G>A; p.R104Q; 3:89210017-89210017

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1339C>A; p.R447R; 3:89395869-89395869

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.188C>A; p.T63K; 3:89209894-89209894

oesophaguscarcinomaSubstitution - Missense

c.1336G>A; p.D446N; 3:89395866-89395866

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2712C>G; p.D904E; 3:89472485-89472485

breastcarcinomaSubstitution - Missense

c.2241C>T; p.L747L; 3:89431254-89431254

skinmalignant_melanomaSubstitution - coding silent

c.2241C>T; p.L747L; 3:89431254-89431254

skinmalignant_melanomaSubstitution - coding silent

c.1750G>A; p.G584S; 3:89408119-89408119

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.388G>A; p.D130N; 3:89210094-89210094

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2147C>T; p.A716V; 3:89431160-89431160

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2147C>T; p.A716V; 3:89431160-89431160

breastcarcinomaSubstitution - Missense

c.2034C>A; p.D678E; 3:89419350-89419350

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.892G>A; p.E298K; 3:89340993-89340993

skinmalignant_melanomaSubstitution - Missense

c.892G>A; p.E298K; 3:89340993-89340993

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.676G>T; p.V226F; 3:89210382-89210382

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1813C>T; p.P605S; 3:89413191-89413191

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2950T>C; p.*984Q; 3:89479500-89479500

endometriumcarcinoma; endometrioid_carcinomaNonstop extension

c.685T>C; p.S229P; 3:89210391-89210391

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.685T>C; p.S229P; 3:89210391-89210391

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2121G>A; p.L707L; 3:89429152-89429152

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.68T>C; p.I23T; 3:89107816-89107816

livercarcinomaSubstitution - Missense

c.685T>C; p.S229P; 3:89210391-89210391

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2528T>G; p.L843R; 3:89450208-89450208

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2747C>T; p.T916I; 3:89472520-89472520

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.644C>T; p.T215M; 3:89210350-89210350

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.644C>T; p.T215M; 3:89210350-89210350

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.496A>G; p.T166A; 3:89210202-89210202

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.496A>G; p.T166A; 3:89210202-89210202

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.496A>G; p.T166A; 3:89210202-89210202

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.989G>T; p.R330I; 3:89341773-89341773

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2662C>A; p.L888M; 3:89450342-89450342

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1732G>A; p.E578K; 3:89408101-89408101

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2016C>A; p.S672R; 3:89419332-89419332

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.14T>C; p.L5P; 3:89107762-89107762

pancreascarcinomaSubstitution - Missense

c.14T>C; p.L5P; 3:89107762-89107762

pancreascarcinomaSubstitution - Missense

c.1691T>A; p.I564N; 3:89407365-89407365

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.497C>A; p.T166N; 3:89210203-89210203

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.722G>T; p.R241M; 3:89210428-89210428

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.645G>A; p.T215T; 3:89210351-89210351

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2426G>T; p.S809I; 3:89449304-89449304

central_nervous_system; braingliomaSubstitution - Missense

c.1234G>A; p.V412I; 3:89342018-89342018

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.645G>A; p.T215T; 3:89210351-89210351

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1234G>A; p.V412I; 3:89342018-89342018

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1672G>C; p.V558L; 3:89407346-89407346

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1318G>T; p.V440F; 3:89395848-89395848

oesophaguscarcinomaSubstitution - Missense

c.2770T>C; p.W924R; 3:89472543-89472543

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2918A>G; p.E973G; 3:89479468-89479468

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1616G>A; p.S539N; 3:89407290-89407290

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1916G>A; p.R639H; 3:89419232-89419232

livercarcinomaSubstitution - Missense

c.380C>A; p.S127Y; 3:89210086-89210086

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2174G>A; p.G725E; 3:89431187-89431187

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.750G>A; p.W250*; 3:89210456-89210456

skinmalignant_melanomaSubstitution - Nonsense

c.89-3T>C; p.?; 3:89127206-89127206

pancreasNSUnknown

c.793G>A; p.E265K; 3:89210499-89210499

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2306G>A; p.R769H; 3:89431319-89431319

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.2306G>A; p.R769H; 3:89431319-89431319

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.494A>G; p.N165S; 3:89210200-89210200

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2306G>A; p.R769H; 3:89431319-89431319

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2306G>A; p.R769H; 3:89431319-89431319

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1303G>T; p.A435S; 3:89342087-89342087

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1303G>T; p.A435S; 3:89342087-89342087

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2781C>T; p.H927H; 3:89472554-89472554

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1326G>A; p.T442T; 3:89395856-89395856

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2739C>T; p.F913F; 3:89472512-89472512

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2236G>A; p.D746N; 3:89431249-89431249

skinmalignant_melanomaSubstitution - Missense

c.1961C>T; p.T654I; 3:89419277-89419277

skinmalignant_melanomaSubstitution - Missense

c.2236G>A; p.D746N; 3:89431249-89431249

skinmalignant_melanomaSubstitution - Missense

c.2701C>T; p.L901F; 3:89472474-89472474

skinmalignant_melanomaSubstitution - Missense

c.2148C>T; p.A716A; 3:89431161-89431161

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.333G>C; p.L111F; 3:89210039-89210039

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.155G>A; p.W52*; 3:89209861-89209861

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.754G>T; p.V252L; 3:89210460-89210460

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.397G>T; p.V133L; 3:89210103-89210103

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1543G>A; p.A515T; 3:89399429-89399429

urinary_tract; bladdercarcinomaSubstitution - Missense

c.17C>A; p.S6Y; 3:89107765-89107765

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1543G>A; p.A515T; 3:89399429-89399429

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2575G>A; p.D859N; 3:89450255-89450255

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.873G>A; p.P291P; 3:89340974-89340974

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2872G>A; p.V958M; 3:89479422-89479422

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2406G>A; p.T802T; 3:89449284-89449284

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2406G>A; p.T802T; 3:89449284-89449284

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1543G>A; p.A515T; 3:89399429-89399429

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2406G>A; p.T802T; 3:89449284-89449284

pancreascarcinomaSubstitution - coding silent

c.1854C>A; p.A618A; 3:89413232-89413232

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2242G>A; p.A748T; 3:89431255-89431255

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1363T>G; p.L455V; 3:89395893-89395893

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1730A>T; p.D577V; 3:89408099-89408099

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2702T>G; p.L901R; 3:89472475-89472475

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1812C>A; p.D604E; 3:89413190-89413190

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2698A>C; p.N900H; 3:89472471-89472471

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.517C>T; p.P173S; 3:89210223-89210223

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1896T>C; p.F632F; 3:89419212-89419212

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.953C>A; p.P318Q; 3:89341054-89341054

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1705G>T; p.G569C; 3:89408074-89408074

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1936A>G; p.K646E; 3:89419252-89419252

skinmalignant_melanomaSubstitution - Missense

c.1332G>T; p.K444N; 3:89395862-89395862

autonomic_ganglianeuroblastomaSubstitution - Missense

c.1346C>T; p.S449F; 3:89395876-89395876

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1346C>T; p.S449F; 3:89395876-89395876

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1698G>C; p.R566S; 3:89408067-89408067

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1094A>G; p.K365R; 3:89341878-89341878

skinmalignant_melanomaSubstitution - Missense

c.1346C>T; p.S449F; 3:89395876-89395876

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2142C>T; p.H714H; 3:89431155-89431155

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2725G>A; p.D909N; 3:89472498-89472498

haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.682G>A; p.G228R; 3:89210388-89210388

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2073A>T; p.K691N; 3:89419389-89419389

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.485T>G; p.L162R; 3:89210191-89210191

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2088G>A; p.M696I; 3:89429119-89429119

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1668C>T; p.L556L; 3:89407342-89407342

livercarcinomaSubstitution - coding silent

c.1579G>T; p.E527*; 3:89399465-89399465

central_nervous_system; braingliomaSubstitution - Nonsense

c.1668C>T; p.L556L; 3:89407342-89407342

livercarcinomaSubstitution - coding silent

c.2051G>A; p.R684Q; 3:89419367-89419367

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2757G>A; p.W919*; 3:89472530-89472530

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1870G>T; p.D624Y; 3:89413248-89413248

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.462A>T; p.Q154H; 3:89210168-89210168

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.545C>T; p.A182V; 3:89210251-89210251

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1785T>G; p.T595T; 3:89413163-89413163

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2317G>A; p.D773N; 3:89431330-89431330

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1011C>G; p.N337K; 3:89341795-89341795

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.897T>C; p.D299D; 3:89340998-89340998

livercarcinomaSubstitution - coding silent

c.897T>C; p.D299D; 3:89340998-89340998

livercarcinomaSubstitution - coding silent

c.2104A>C; p.M702L; 3:89429135-89429135

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1345T>C; p.S449P; 3:89395875-89395875

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2183G>T; p.R728L; 3:89431196-89431196

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.142C>T; p.P48S; 3:89127262-89127262

skinmalignant_melanomaSubstitution - Missense

c.2183G>T; p.R728L; 3:89431196-89431196

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1485C>A; p.T495T; 3:89399371-89399371

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.559G>C; p.G187R; 3:89210265-89210265

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2063T>A; p.V688D; 3:89419379-89419379

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.884C>A; p.S295Y; 3:89340985-89340985

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.847G>A; p.G283S; 3:89340948-89340948

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1846T>C; p.L616L; 3:89413224-89413224

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.406C>T; p.R136*; 3:89210112-89210112

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.406C>T; p.R136*; 3:89210112-89210112

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.138T>C; p.S46S; 3:89127258-89127258

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1694_1695GG>AA; p.G565E; 3:89407368-89407369

skinmalignant_melanomaSubstitution - Missense

c.406C>T; p.R136*; 3:89210112-89210112

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.406C>T; p.R136*; 3:89210112-89210112

skinmalignant_melanomaSubstitution - Nonsense

c.406C>T; p.R136*; 3:89210112-89210112

skinmalignant_melanomaSubstitution - Nonsense

c.1146C>T; p.F382F; 3:89341930-89341930

skinmalignant_melanomaSubstitution - coding silent

c.1256G>C; p.S419T; 3:89342040-89342040

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2847-2A>T; p.?; 3:89479395-89479395

lungcarcinoma; squamous_cell_carcinomaUnknown

c.127G>T; p.G43C; 3:89127247-89127247

oesophaguscarcinomaSubstitution - Missense

c.1082T>C; p.I361T; 3:89341866-89341866

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1281G>A; p.A427A; 3:89342065-89342065

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1073C>T; p.T358I; 3:89341857-89341857

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2168T>C; p.L723P; 3:89431181-89431181

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1169C>A; p.T390N; 3:89341953-89341953

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1674T>C; p.V558V; 3:89407348-89407348

livercarcinomaSubstitution - coding silent

c.2297G>A; p.G766E; 3:89431310-89431310

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.2297G>A; p.G766E; 3:89431310-89431310

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.2284G>A; p.V762I; 3:89431297-89431297

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1883G>A; p.G628E; 3:89413261-89413261

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.815-8G>T; p.?; 3:89340908-89340908

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1354A>T; p.S452C; 3:89395884-89395884

kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.157G>A; p.E53K; 3:89209863-89209863

skinmalignant_melanomaSubstitution - Missense

c.2717G>T; p.S906I; 3:89472490-89472490

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1153C>T; p.R385*; 3:89341937-89341937

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.485T>C; p.L162P; 3:89210191-89210191

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.485T>C; p.L162P; 3:89210191-89210191

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1422C>A; p.Y474*; 3:89395952-89395952

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.285T>G; p.I95M; 3:89209991-89209991

skinmalignant_melanomaSubstitution - Missense

c.1532C>T; p.A511V; 3:89399418-89399418

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.528G>C; p.K176N; 3:89210234-89210234

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2249G>T; p.R750L; 3:89431262-89431262

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1647G>A; p.A549A; 3:89407321-89407321

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2710G>A; p.D904N; 3:89472483-89472483

skinmalignant_melanomaSubstitution - Missense

c.353A>G; p.E118G; 3:89210059-89210059

skin; neckmalignant_melanomaSubstitution - Missense

c.1647G>A; p.A549A; 3:89407321-89407321

skinmalignant_melanomaSubstitution - coding silent

c.15C>T; p.L5L; 3:89107763-89107763

skinmalignant_melanomaSubstitution - coding silent

c.1643C>A; p.S548*; 3:89407317-89407317

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.753T>G; p.L251L; 3:89210459-89210459

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1029G>A; p.L343L; 3:89341813-89341813

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1150C>T; p.P384S; 3:89341934-89341934

skinmalignant_melanomaSubstitution - Missense

c.1643C>A; p.S548*; 3:89407317-89407317

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.2184A>T; p.R728R; 3:89431197-89431197

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2249G>A; p.R750Q; 3:89431262-89431262

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.165C>T; p.I55I; 3:89209871-89209871

lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.362A>G; p.N121S; 3:89210068-89210068

skinmalignant_melanomaSubstitution - Missense

c.58_59GG>AA; p.G20K; 3:89107806-89107807

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2249G>A; p.R750Q; 3:89431262-89431262

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2051G>C; p.R684P; 3:89419367-89419367

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1837G>T; p.A613S; 3:89413215-89413215

autonomic_ganglianeuroblastomaSubstitution - Missense

c.947A>T; p.D316V; 3:89341048-89341048

breastcarcinomaSubstitution - Missense

c.931T>C; p.F311L; 3:89341032-89341032

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.219C>G; p.V73V; 3:89209925-89209925

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.563C>T; p.A188V; 3:89210269-89210269

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1889-2A>T; p.?; 3:89419203-89419203

lungcarcinoma; adenocarcinomaUnknown

c.1177A>G; p.T393A; 3:89341961-89341961

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.684G>T; p.G228G; 3:89210390-89210390

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1177A>G; p.T393A; 3:89341961-89341961

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1556C>T; p.T519M; 3:89399442-89399442

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1280C>T; p.A427V; 3:89342064-89342064

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1284C>T; p.V428V; 3:89342068-89342068

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.744C>T; p.G248G; 3:89210450-89210450

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.744C>T; p.G248G; 3:89210450-89210450

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1970T>A; p.V657D; 3:89419286-89419286

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.839C>T; p.A280V; 3:89340940-89340940

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2667G>A; p.K889K; 3:89450347-89450347

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.399G>A; p.V133V; 3:89210105-89210105

skinmalignant_melanomaSubstitution - coding silent

c.1137T>G; p.N379K; 3:89341921-89341921

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.559G>T; p.G187C; 3:89210265-89210265

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1432-2A>G; p.?; 3:89399316-89399316

ovarycarcinoma; serous_carcinomaUnknown

c.1432-2A>G; p.?; 3:89399316-89399316

large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.1432-2A>G; p.?; 3:89399316-89399316

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.2098G>A; p.E700K; 3:89429129-89429129

skinmalignant_melanomaSubstitution - Missense

c.594C>G; p.Y198*; 3:89210300-89210300

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2811C>G; p.Y937*; 3:89472584-89472584

lungcarcinoma; adenocarcinomaSubstitution - Nonsense


')