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

Basic Information

Gene ID

55124

Name

PIWIL2

Synonymous

piwi-like RNA-mediated gene silencing 2;PIWIL2;piwi-like RNA-mediated gene silencing 2

Definition

80kDa PIWIL2 short isoform|Miwi like|cancer/testis antigen 80|piwi-like 2|piwi-like protein 2|piwil2-like protein

Position

8p21.3

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 0.12.

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.1405C>T; p.Q469*; 8:22304818-22304818

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.926_927insA; p.I311fs*7; 8:22288606-22288607

 breastcarcinomaInsertion - Frameshift

c.926_927insA; p.I311fs*7; 8:22288606-22288607

 breastcarcinomaInsertion - Frameshift

c.2197G>A; p.D733N; 8:22315134-22315134

 breastcarcinomaSubstitution - Missense

c.785A>C; p.K262T; 8:22287569-22287569

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.348C>T; p.L116L; 8:22281438-22281438

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.182G>A; p.R61K; 8:22279568-22279568

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1417A>G; p.I473V; 8:22304830-22304830

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1387A>G; p.T463A; 8:22304800-22304800

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.234G>A; p.L78L; 8:22281155-22281155

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1274G>A; p.R425H; 8:22304113-22304113

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1443T>C; p.D481D; 8:22304856-22304856

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2878C>G; p.H960D; 8:22355461-22355461

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1103G>A; p.R368Q; 8:22290268-22290268

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2763G>A; p.Q921Q; 8:22354376-22354376

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.160C>T; p.P54S; 8:22279546-22279546

 breastcarcinomaSubstitution - Missense

c.396G>C; p.K132N; 8:22281486-22281486

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1942C>A; p.R648R; 8:22311253-22311253

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2016C>A; p.I672I; 8:22314354-22314354

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.73C>T; p.P25S; 8:22279459-22279459

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1084G>A; p.G362S; 8:22290249-22290249

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2430T>C; p.I810I; 8:22352985-22352985

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2684A>G; p.H895R; 8:22354297-22354297

 pancreascarcinomaSubstitution - Missense

c.1282C>T; p.R428C; 8:22304121-22304121

 skinmalignant_melanomaSubstitution - Missense

c.1282C>T; p.R428C; 8:22304121-22304121

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1282C>T; p.R428C; 8:22304121-22304121

 skinmalignant_melanomaSubstitution - Missense

c.531G>A; p.P177P; 8:22283139-22283139

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.531G>A; p.P177P; 8:22283139-22283139

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.531G>A; p.P177P; 8:22283139-22283139

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1222G>A; p.E408K; 8:22304061-22304061

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2721C>A; p.V907V; 8:22354334-22354334

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.927_928insA; p.I311fs*7; 8:22288607-22288608

 breastcarcinomaInsertion - Frameshift

c.1889G>A; p.G630D; 8:22311200-22311200

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2088C>T; p.S696S; 8:22314426-22314426

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1356C>A; p.F452L; 8:22304195-22304195

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2360G>C; p.S787T; 8:22318232-22318232

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1283G>A; p.R428H; 8:22304122-22304122

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1129C>T; p.L377L; 8:22290294-22290294

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.199G>A; p.E67K; 8:22281120-22281120

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.628G>A; p.E210K; 8:22283236-22283236

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.628G>A; p.E210K; 8:22283236-22283236

 skinmalignant_melanomaSubstitution - Missense

c.1748C>A; p.S583Y; 8:22310022-22310022

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1613G>T; p.R538I; 8:22308000-22308000

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1055T>G; p.L352R; 8:22289915-22289915

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2080G>A; p.V694M; 8:22314418-22314418

 ovaryother; neoplasmSubstitution - Missense

c.2355G>A; p.V785V; 8:22318227-22318227

 skinmalignant_melanomaSubstitution - coding silent

c.1904G>A; p.R635H; 8:22311215-22311215

 prostatecarcinomaSubstitution - Missense

c.1950G>C; p.E650D; 8:22311261-22311261

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2795G>T; p.W932L; 8:22355378-22355378

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1630G>A; p.A544T; 8:22308017-22308017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2777A>G; p.K926R; 8:22355360-22355360

 skinmalignant_melanomaSubstitution - Missense

c.1118G>T; p.G373V; 8:22290283-22290283

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.854T>C; p.L285P; 8:22287638-22287638

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2311T>C; p.W771R; 8:22318183-22318183

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1664G>A; p.R555H; 8:22308051-22308051

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.255G>C; p.K85N; 8:22281176-22281176

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.452C>T; p.A151V; 8:22283060-22283060

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.287-2A>G; p.?; 8:22281375-22281375

 prostatecarcinomaUnknown

c.1831C>A; p.P611T; 8:22311142-22311142

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.489C>T; p.I163I; 8:22283097-22283097

 skinmalignant_melanomaSubstitution - coding silent

c.2208G>T; p.L736L; 8:22315145-22315145

 thyroidother; neoplasmSubstitution - coding silent

c.2701G>T; p.G901C; 8:22354314-22354314

 NSmalignant_melanomaSubstitution - Missense

c.486T>A; p.G162G; 8:22283094-22283094

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.405G>T; p.E135D; 8:22281495-22281495

 skinmalignant_melanomaSubstitution - Missense

c.405G>T; p.E135D; 8:22281495-22281495

 skinmalignant_melanomaSubstitution - Missense

c.405G>T; p.E135D; 8:22281495-22281495

 skinmalignant_melanomaSubstitution - Missense

c.2488_2489insT; p.P831fs*8; 8:22353043-22353044

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.2539A>G; p.M847V; 8:22353094-22353094

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2544G>T; p.V848V; 8:22353099-22353099

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1273C>T; p.R425C; 8:22304112-22304112

 large_intestine; colonNSSubstitution - Missense

c.1655delG; p.L554fs*22; 8:22308042-22308042

 pancreascarcinoma; acinar_carcinomaDeletion - Frameshift

c.699_700delAC; p.Q234fs*3; 8:22284228-22284229

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.439G>A; p.G147R; 8:22283047-22283047

 skinmalignant_melanomaSubstitution - Missense

c.2286A>G; p.A762A; 8:22316322-22316322

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.516T>C; p.C172C; 8:22283124-22283124

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.828A>G; p.G276G; 8:22287612-22287612

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.734T>C; p.V245A; 8:22284263-22284263

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.412G>A; p.V138I; 8:22281502-22281502

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.412G>A; p.V138I; 8:22281502-22281502

 prostatecarcinomaSubstitution - Missense

c.1715G>T; p.R572I; 8:22309989-22309989

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.218C>T; p.S73F; 8:22281139-22281139

 skinmalignant_melanomaSubstitution - Missense

c.2737G>A; p.A913T; 8:22354350-22354350

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.602C>A; p.P201H; 8:22283210-22283210

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.373G>C; p.V125L; 8:22281463-22281463

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2226C>T; p.I742I; 8:22316262-22316262

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.684G>A; p.L228L; 8:22284213-22284213

 breastcarcinomaSubstitution - coding silent

c.2054A>C; p.K685T; 8:22314392-22314392

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2054A>C; p.K685T; 8:22314392-22314392

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2796G>A; p.W932*; 8:22355379-22355379

 skinmalignant_melanomaSubstitution - Nonsense

c.2141C>T; p.A714V; 8:22315078-22315078

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1156C>T; p.R386W; 8:22290321-22290321

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1866C>T; p.V622V; 8:22311177-22311177

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2394G>T; p.K798N; 8:22318266-22318266

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.598C>T; p.R200C; 8:22283206-22283206

 skinmalignant_melanomaSubstitution - Missense

c.598C>T; p.R200C; 8:22283206-22283206

 skinmalignant_melanomaSubstitution - Missense

c.1652G>A; p.R551H; 8:22308039-22308039

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.32A>G; p.Q11R; 8:22279418-22279418

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2657+1G>A; p.?; 8:22353213-22353213

 stomachcarcinoma; adenocarcinomaUnknown

c.1022G>A; p.R341K; 8:22289882-22289882

 skinmalignant_melanomaSubstitution - Missense

c.1276A>C; p.T426P; 8:22304115-22304115

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1279T>G; p.Y427D; 8:22304118-22304118

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2552T>C; p.V851A; 8:22353107-22353107

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2857C>A; p.L953M; 8:22355440-22355440

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2288G>A; p.S763N; 8:22316324-22316324

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1324T>G; p.F442V; 8:22304163-22304163

 ovarycarcinomaSubstitution - Missense

c.1771G>A; p.E591K; 8:22310045-22310045

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.917T>A; p.I306N; 8:22288597-22288597

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1260C>T; p.T420T; 8:22304099-22304099

 skinmalignant_melanomaSubstitution - coding silent

c.2280C>T; p.F760F; 8:22316316-22316316

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2280C>T; p.F760F; 8:22316316-22316316

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.343G>A; p.E115K; 8:22281433-22281433

 skinmalignant_melanomaSubstitution - Missense

c.741C>T; p.F247F; 8:22284270-22284270

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1823delT; p.Y610fs*19; 8:22311134-22311134

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.64G>A; p.V22I; 8:22279450-22279450

 breastcarcinomaSubstitution - Missense

c.2148G>T; p.K716N; 8:22315085-22315085

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2760G>A; p.M920I; 8:22354373-22354373

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.229_230GG>AA; p.G77N; 8:22281150-22281151

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.649C>T; p.Q217*; 8:22284178-22284178

 pancreascarcinomaSubstitution - Nonsense

c.898G>A; p.A300T; 8:22288578-22288578

 central_nervous_system; braingliomaSubstitution - Missense

c.62C>T; p.A21V; 8:22279448-22279448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1658G>T; p.G553V; 8:22308045-22308045

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.280C>T; p.P94S; 8:22281201-22281201

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2181T>C; p.G727G; 8:22315118-22315118

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.362G>T; p.W121L; 8:22281452-22281452

 skinmalignant_melanomaSubstitution - Missense

c.2863G>A; p.G955R; 8:22355446-22355446

 skin; extremitymalignant_melanomaSubstitution - Missense

c.2146A>G; p.K716E; 8:22315083-22315083

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.885G>A; p.R295R; 8:22288565-22288565

 skinmalignant_melanomaSubstitution - coding silent

c.885G>A; p.R295R; 8:22288565-22288565

 skin; abdomenmalignant_melanomaSubstitution - coding silent

c.2268C>T; p.S756S; 8:22316304-22316304

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1718T>G; p.I573S; 8:22309992-22309992

 skinmalignant_melanomaSubstitution - Missense

c.2902G>A; p.E968K; 8:22355485-22355485

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1916C>T; p.P639L; 8:22311227-22311227

 skinmalignant_melanomaSubstitution - Missense

c.2287A>C; p.S763R; 8:22316323-22316323

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2710A>G; p.T904A; 8:22354323-22354323

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.77G>A; p.G26D; 8:22279463-22279463

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.191C>T; p.A64V; 8:22279577-22279577

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.873delA; p.S293fs*16; 8:22288553-22288553

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.426-2A>G; p.?; 8:22283032-22283032

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaUnknown

c.426-2A>G; p.?; 8:22283032-22283032

 upper_aerodigestive_tract; mouthcarcinomaUnknown

c.1A>G; p.M1V; 8:22279387-22279387

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1A>G; p.M1V; 8:22279387-22279387

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1A>G; p.M1V; 8:22279387-22279387

 large_intestine; coloncarcinomaSubstitution - Missense

c.1A>G; p.M1V; 8:22279387-22279387

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1686+7C>A; p.?; 8:22308080-22308080

 pancreascarcinomaUnknown

c.724C>T; p.Q242*; 8:22284253-22284253

 skinmalignant_melanomaSubstitution - Nonsense

c.1350C>T; p.I450I; 8:22304189-22304189

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.652G>A; p.G218R; 8:22284181-22284181

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.768G>A; p.M256I; 8:22287552-22287552

 skinmalignant_melanomaSubstitution - Missense

c.1504G>A; p.G502R; 8:22305975-22305975

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2393A>T; p.K798M; 8:22318265-22318265

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1464A>G; p.K488K; 8:22305935-22305935

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2220G>A; p.M740I; 8:22316256-22316256

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2803C>A; p.P935T; 8:22355386-22355386

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.758G>A; p.C253Y; 8:22287542-22287542

 livercarcinomaSubstitution - Missense

c.758G>A; p.C253Y; 8:22287542-22287542

 livercarcinomaSubstitution - Missense

c.2264G>A; p.R755H; 8:22316300-22316300

 central_nervous_system; braingliomaSubstitution - Missense

c.66A>T; p.V22V; 8:22279452-22279452

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.587A>G; p.H196R; 8:22283195-22283195

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2388A>T; p.L796F; 8:22318260-22318260

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.61G>A; p.A21T; 8:22279447-22279447

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1456-1G>A; p.?; 8:22305926-22305926

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1943G>T; p.R648L; 8:22311254-22311254

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2543T>C; p.V848A; 8:22353098-22353098

 breastcarcinomaSubstitution - Missense

c.2502G>T; p.Q834H; 8:22353057-22353057

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1434G>A; p.E478E; 8:22304847-22304847

 livercarcinomaSubstitution - coding silent

c.1434G>A; p.E478E; 8:22304847-22304847

 livercarcinomaSubstitution - coding silent

c.364G>A; p.D122N; 8:22281454-22281454

 skinmalignant_melanomaSubstitution - Missense

c.385G>T; p.G129W; 8:22281475-22281475

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1545G>T; p.K515N; 8:22306016-22306016

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.16C>A; p.P6T; 8:22279402-22279402

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2538G>T; p.K846N; 8:22353093-22353093

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.557C>T; p.S186L; 8:22283165-22283165

 skin; extremitymalignant_melanomaSubstitution - Missense

c.1034A>G; p.D345G; 8:22289894-22289894

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1029T>G; p.F343L; 8:22289889-22289889

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.305G>C; p.R102P; 8:22281395-22281395

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2048C>T; p.A683V; 8:22314386-22314386

 skinmalignant_melanomaSubstitution - Missense

c.2881G>A; p.E961K; 8:22355464-22355464

 skinmalignant_melanomaSubstitution - Missense

c.382G>A; p.A128T; 8:22281472-22281472

 thyroidcarcinomaSubstitution - Missense

c.2446G>A; p.G816R; 8:22353001-22353001

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.2866C>T; p.H956Y; 8:22355449-22355449

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2083C>T; p.P695S; 8:22314421-22314421

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1693G>A; p.G565R; 8:22309967-22309967

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

')