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

Basic Information

Gene ID

4921

Name

DDR2

Synonymous

discoidin domain receptor tyrosine kinase 2;DDR2;discoidin domain receptor tyrosine kinase 2

Definition

CD167 antigen-like family member B|cell migration-inducing protein 20|discoidin domain receptor 2|discoidin domain receptor family, member 2|discoidin domain-containing receptor 2|discoidin domain-containing receptor tyrosine kinase 2|hydroxyaryl-protein

Position

1q23.3

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 0.09.

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.1896C>A; p.L632L; 1:162775691-162775691

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.700G>A; p.D234N; 1:162759824-162759824

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.185G>T; p.R62M; 1:162753197-162753197

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2032G>A; p.D678N; 1:162775827-162775827

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1814T>C; p.V605A; 1:162773554-162773554

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.549C>T; p.Y183Y; 1:162755287-162755287

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.549C>T; p.Y183Y; 1:162755287-162755287

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1491G>T; p.G497G; 1:162770499-162770499

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.149G>A; p.S50N; 1:162753161-162753161

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1654G>T; p.D552Y; 1:162772173-162772173

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.263A>G; p.Q88R; 1:162754701-162754701

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.720C>T; p.D240D; 1:162759844-162759844

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1654G>T; p.D552Y; 1:162772173-162772173

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1337C>T; p.S446F; 1:162770345-162770345

 skinmalignant_melanomaSubstitution - Missense

c.1674C>T; p.F558F; 1:162772193-162772193

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2322G>T; p.G774G; 1:162778618-162778618

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.933T>G; p.S311R; 1:162761288-162761288

 skinmalignant_melanomaSubstitution - Missense

c.1929G>T; p.V643V; 1:162775724-162775724

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.2090G>A; p.G697D; 1:162776177-162776177

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1848G>T; p.K616N; 1:162773588-162773588

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1272C>T; p.F424F; 1:162767338-162767338

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1272C>T; p.F424F; 1:162767338-162767338

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.67G>C; p.A23P; 1:162719130-162719130

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1195C>T; p.R399W; 1:162767261-162767261

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.336C>T; p.I112I; 1:162754774-162754774

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.313C>A; p.R105S; 1:162754751-162754751

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.313C>A; p.R105S; 1:162754751-162754751

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.2172C>A; p.I724I; 1:162776259-162776259

 central_nervous_system; braingliomaSubstitution - coding silent

c.995G>A; p.R332Q; 1:162761350-162761350

 breastcarcinomaSubstitution - Missense

c.363T>G; p.N121K; 1:162754801-162754801

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2254C>T; p.R752C; 1:162776341-162776341

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1163-1G>T; p.?; 1:162767228-162767228

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.1163-1G>T; p.?; 1:162767228-162767228

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.1817C>T; p.A606V; 1:162773557-162773557

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1881G>T; p.K627N; 1:162775676-162775676

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1077C>A; p.F359L; 1:162761432-162761432

 kidneyother; neoplasmSubstitution - Missense

c.368G>T; p.S123I; 1:162754806-162754806

 breastcarcinomaSubstitution - Missense

c.1260C>G; p.L420L; 1:162767326-162767326

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2283+4A>G; p.?; 1:162776374-162776374

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaUnknown

c.1298C>A; p.S433Y; 1:162770306-162770306

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.313C>T; p.R105C; 1:162754751-162754751

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2324T>C; p.V775A; 1:162778620-162778620

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.313C>T; p.R105C; 1:162754751-162754751

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1562A>C; p.Y521S; 1:162772081-162772081

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.258T>A; p.F86L; 1:162754696-162754696

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.907C>A; p.Q303K; 1:162761262-162761262

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.783C>T; p.N261N; 1:162759907-162759907

 breastcarcinomaSubstitution - coding silent

c.330T>G; p.H110Q; 1:162754768-162754768

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1556C>A; p.P519H; 1:162772075-162772075

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1556C>A; p.P519H; 1:162772075-162772075

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1083G>C; p.E361D; 1:162761438-162761438

 breastcarcinomaSubstitution - Missense

c.970C>T; p.L324L; 1:162761325-162761325

 skinmalignant_melanomaSubstitution - coding silent

c.2292C>T; p.F764F; 1:162778588-162778588

 livercarcinomaSubstitution - coding silent

c.1006G>A; p.V336M; 1:162761361-162761361

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.387G>A; p.W129*; 1:162754825-162754825

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.453C>T; p.F151F; 1:162755191-162755191

 skinmalignant_melanomaSubstitution - coding silent

c.1530C>T; p.V510V; 1:162772049-162772049

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2443C>T; p.P815S; 1:162780121-162780121

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1022G>A; p.R341Q; 1:162761377-162761377

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.334A>T; p.I112F; 1:162754772-162754772

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2490C>T; p.S830S; 1:162780168-162780168

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1840G>A; p.A614T; 1:162773580-162773580

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.726C>T; p.F242F; 1:162759850-162759850

 breastcarcinomaSubstitution - coding silent

c.262C>G; p.Q88E; 1:162754700-162754700

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1848G>C; p.K616N; 1:162773588-162773588

 breastcarcinomaSubstitution - Missense

c.266T>A; p.I89N; 1:162754704-162754704

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2560G>A; p.D854N; 1:162780238-162780238

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2560G>A; p.D854N; 1:162780238-162780238

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2560G>A; p.D854N; 1:162780238-162780238

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2530G>T; p.E844*; 1:162780208-162780208

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2022T>A; p.S674S; 1:162775817-162775817

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.739G>T; p.E247*; 1:162759863-162759863

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.185G>A; p.R62K; 1:162753197-162753197

 breastcarcinomaSubstitution - Missense

c.370C>T; p.R124W; 1:162754808-162754808

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1997_1999delTTT; p.L666_S667>P; 1:162775792-162775794

 central_nervous_system; brainglioma; astrocytoma_Grade_IVComplex - deletion inframe

c.1382C>T; p.S461L; 1:162770390-162770390

 skinmalignant_melanomaSubstitution - Missense

c.2055C>G; p.T685T; 1:162776142-162776142

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1414G>T; p.D472Y; 1:162770422-162770422

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.13C>T; p.P5S; 1:162719076-162719076

 skinmalignant_melanomaSubstitution - Missense

c.2031C>T; p.S677S; 1:162775826-162775826

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.365A>G; p.Y122C; 1:162754803-162754803

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1188C>T; p.S396S; 1:162767254-162767254

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1463T>G; p.I488R; 1:162770471-162770471

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.1534C>T; p.P512S; 1:162772053-162772053

 central_nervous_system; braingliomaSubstitution - Missense

c.260T>G; p.L87R; 1:162754698-162754698

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1254C>A; p.I418I; 1:162767320-162767320

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1254C>A; p.I418I; 1:162767320-162767320

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1503A>G; p.S501S; 1:162770511-162770511

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.301G>T; p.G101W; 1:162754739-162754739

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1497G>A; p.E499E; 1:162770505-162770505

 pancreascarcinomaSubstitution - coding silent

c.664G>A; p.G222R; 1:162755762-162755762

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Missense

c.962C>T; p.P321L; 1:162761317-162761317

 skinmalignant_melanomaSubstitution - Missense

c.1432C>G; p.R478G; 1:162770440-162770440

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1995T>C; p.F665F; 1:162775790-162775790

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.417G>T; p.Q139H; 1:162754855-162754855

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.408T>C; p.H136H; 1:162754846-162754846

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1986C>A; p.L662L; 1:162775781-162775781

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.190G>A; p.D64N; 1:162754628-162754628

 skinmalignant_melanomaSubstitution - Missense

c.2340T>C; p.T780T; 1:162778636-162778636

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.259C>T; p.L87L; 1:162754697-162754697

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1507T>A; p.C503S; 1:162772026-162772026

 kidneyother; neoplasmSubstitution - Missense

c.440C>T; p.P147L; 1:162755178-162755178

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.951C>A; p.A317A; 1:162761306-162761306

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1932T>C; p.C644C; 1:162775727-162775727

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.303G>A; p.G101G; 1:162754741-162754741

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.518C>T; p.S173F; 1:162755256-162755256

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.750G>A; p.V250V; 1:162759874-162759874

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1367A>G; p.N456S; 1:162770375-162770375

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2295T>A; p.T765T; 1:162778591-162778591

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1135A>C; p.T379P; 1:162766036-162766036

 breastcarcinomaSubstitution - Missense

c.332G>C; p.G111A; 1:162754770-162754770

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2444C>A; p.P815H; 1:162780122-162780122

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2125C>T; p.R709*; 1:162776212-162776212

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.2125C>T; p.R709*; 1:162776212-162776212

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.351G>A; p.M117I; 1:162754789-162754789

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2125C>T; p.R709*; 1:162776212-162776212

 stomachadenocarcinomaSubstitution - Nonsense

c.1624G>A; p.A542T; 1:162772143-162772143

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1774G>T; p.D592Y; 1:162773514-162773514

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.343G>T; p.A115S; 1:162754781-162754781

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1999T>C; p.S667P; 1:162775794-162775794

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.601C>T; p.Q201*; 1:162755699-162755699

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.329A>G; p.H110R; 1:162754767-162754767

 breastcarcinomaSubstitution - Missense

c.1338C>T; p.S446S; 1:162770346-162770346

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1338C>T; p.S446S; 1:162770346-162770346

 skinmalignant_melanomaSubstitution - coding silent

c.2230C>T; p.Q744*; 1:162776317-162776317

 skinmalignant_melanomaSubstitution - Nonsense

c.1963G>A; p.E655K; 1:162775758-162775758

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2503G>T; p.D835Y; 1:162780181-162780181

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.855+1G>A; p.?; 1:162759980-162759980

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.853A>G; p.K285E; 1:162759977-162759977

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1996C>A; p.L666I; 1:162775791-162775791

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1873G>A; p.E625K; 1:162775668-162775668

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.479T>C; p.V160A; 1:162755217-162755217

 skinmalignant_melanomaSubstitution - Missense

c.1361T>A; p.F454Y; 1:162770369-162770369

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2316C>T; p.A772A; 1:162778612-162778612

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2515C>T; p.R839C; 1:162780193-162780193

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.747C>T; p.H249H; 1:162759871-162759871

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1219G>C; p.A407P; 1:162767285-162767285

 breastcarcinomaSubstitution - Missense

c.471G>A; p.P157P; 1:162755209-162755209

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.471G>A; p.P157P; 1:162755209-162755209

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2489G>A; p.S830N; 1:162780167-162780167

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.600G>A; p.Q200Q; 1:162755698-162755698

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.471G>A; p.P157P; 1:162755209-162755209

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.83C>A; p.A28D; 1:162753095-162753095

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1293+1G>A; p.?; 1:162767360-162767360

 stomachcarcinoma; intestinal_adenocarcinomaUnknown

c.1830C>A; p.L610L; 1:162773570-162773570

 skinmalignant_melanomaSubstitution - coding silent

c.407A>T; p.H136L; 1:162754845-162754845

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.424G>A; p.D142N; 1:162755162-162755162

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2255G>A; p.R752H; 1:162776342-162776342

 breastcarcinomaSubstitution - Missense

c.483C>T; p.A161A; 1:162755221-162755221

 livercarcinomaSubstitution - coding silent

c.1979G>A; p.G660E; 1:162775774-162775774

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1492G>A; p.E498K; 1:162770500-162770500

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.483C>T; p.A161A; 1:162755221-162755221

 livercarcinomaSubstitution - coding silent

c.2277C>A; p.I759I; 1:162776364-162776364

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1315G>A; p.D439N; 1:162770323-162770323

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2277C>A; p.I759I; 1:162776364-162776364

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2516G>A; p.R839H; 1:162780194-162780194

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2083G>A; p.A695T; 1:162776170-162776170

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.2021C>A; p.S674Y; 1:162775816-162775816

 breastcarcinomaSubstitution - Missense

c.2516G>A; p.R839H; 1:162780194-162780194

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2516G>A; p.R839H; 1:162780194-162780194

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1837G>A; p.D613N; 1:162773577-162773577

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.409G>T; p.G137W; 1:162754847-162754847

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2287A>G; p.K763E; 1:162778583-162778583

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2287A>G; p.K763E; 1:162778583-162778583

 large_intestine; coloncarcinomaSubstitution - Missense

c.472C>T; p.P158S; 1:162755210-162755210

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2551C>A; p.Q851K; 1:162780229-162780229

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.511G>T; p.D171Y; 1:162755249-162755249

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.255G>C; p.E85D; 1:162754693-162754693

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.745C>T; p.H249Y; 1:162759869-162759869

 skinmalignant_melanomaSubstitution - Missense

c.311G>T; p.G104V; 1:162754749-162754749

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.311G>T; p.G104V; 1:162754749-162754749

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1598C>A; p.T533K; 1:162772117-162772117

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2258G>A; p.W753*; 1:162776345-162776345

 breastcarcinomaSubstitution - Nonsense

c.1551G>A; p.G517G; 1:162772070-162772070

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1865T>A; p.F622Y; 1:162775660-162775660

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.399G>T; p.R133R; 1:162754837-162754837

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1187G>T; p.S396I; 1:162767253-162767253

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.873G>A; p.M291I; 1:162761228-162761228

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Missense

c.2141G>A; p.R714Q; 1:162776228-162776228

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.83-2A>T; p.?; 1:162753093-162753093

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.2038C>T; p.R680C; 1:162775833-162775833

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1892G>A; p.R631Q; 1:162775687-162775687

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.699C>T; p.T233T; 1:162759823-162759823

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.699C>T; p.T233T; 1:162759823-162759823

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.757G>A; p.G253S; 1:162759881-162759881

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.261G>C; p.L87L; 1:162754699-162754699

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.257T>C; p.F86S; 1:162754695-162754695

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1857-1G>C; p.?; 1:162775651-162775651

 ovarycarcinoma; serous_carcinomaUnknown

c.1301G>T; p.R434L; 1:162770309-162770309

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.764A>T; p.D255V; 1:162759888-162759888

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1293G>T; p.K431N; 1:162767359-162767359

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2444C>T; p.P815L; 1:162780122-162780122

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.397C>T; p.R133W; 1:162754835-162754835

 livercarcinomaSubstitution - Missense

c.2444C>T; p.P815L; 1:162780122-162780122

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.469C>T; p.P157S; 1:162755207-162755207

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1418G>A; p.R473H; 1:162770426-162770426

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1092C>T; p.F364F; 1:162761447-162761447

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.331G>A; p.G111S; 1:162754769-162754769

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.109T>G; p.S37A; 1:162753121-162753121

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1374C>A; p.R458R; 1:162770382-162770382

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1986C>T; p.L662L; 1:162775781-162775781

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.117C>T; p.G39G; 1:162753129-162753129

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.403C>T; p.R135C; 1:162754841-162754841

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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