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

Basic Information

Gene ID

55901

Name

THSD1

Synonymous

thrombospondin, type I, domain containing 1;THSD1;thrombospondin, type I, domain containing 1

Definition

4833423O18Rik|thrombospondin type-1 domain-containing protein 1|thrombospondin, type I, domain 1|transmembrane molecule with thrombospondin module

Position

13q14.3

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 0.08.

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.1282A>G; p.I428V; 13:52378688-52378688

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1774C>T; p.P592S; 13:52378196-52378196

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1323G>C; p.R441R; 13:52378647-52378647

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1302G>A; p.T434T; 13:52378668-52378668

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1302G>A; p.T434T; 13:52378668-52378668

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.719T>C; p.F240S; 13:52397534-52397534

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1013G>A; p.R338K; 13:52397240-52397240

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.745G>T; p.E249*; 13:52397508-52397508

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1591C>T; p.R531C; 13:52378379-52378379

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.831G>T; p.E277D; 13:52397422-52397422

 pancreascarcinomaSubstitution - Missense

c.1591C>T; p.R531C; 13:52378379-52378379

 livercarcinomaSubstitution - Missense

c.2330C>A; p.P777H; 13:52377640-52377640

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1289C>T; p.T430I; 13:52378681-52378681

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.589G>T; p.A197S; 13:52397664-52397664

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.802G>A; p.V268I; 13:52397451-52397451

 pancreascarcinomaSubstitution - Missense

c.802G>A; p.V268I; 13:52397451-52397451

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.802G>A; p.V268I; 13:52397451-52397451

 thyroidcarcinomaSubstitution - Missense

c.2559G>T; p.*853Y; 13:52377411-52377411

 lungcarcinoma; adenocarcinomaNonstop extension

c.655C>T; p.L219L; 13:52397598-52397598

 breastcarcinomaSubstitution - coding silent

c.219T>C; p.T73T; 13:52398034-52398034

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.275A>G; p.Y92C; 13:52397978-52397978

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2514G>T; p.E838D; 13:52377456-52377456

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2258G>T; p.R753I; 13:52377712-52377712

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.904A>G; p.I302V; 13:52397349-52397349

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.949T>C; p.F317L; 13:52397304-52397304

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1681G>C; p.D561H; 13:52378289-52378289

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.949T>C; p.F317L; 13:52397304-52397304

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1829A>G; p.N610S; 13:52378141-52378141

 pancreascarcinomaSubstitution - Missense

c.1829A>G; p.N610S; 13:52378141-52378141

 pancreascarcinomaSubstitution - Missense

c.1829A>G; p.N610S; 13:52378141-52378141

 pancreascarcinomaSubstitution - Missense

c.1584C>T; p.F528F; 13:52378386-52378386

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.154G>A; p.A52T; 13:52398099-52398099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1983G>T; p.Q661H; 13:52377987-52377987

 kidneyother; neoplasmSubstitution - Missense

c.82C>A; p.L28I; 13:52398171-52398171

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.621A>G; p.A207A; 13:52397632-52397632

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1019C>T; p.T340I; 13:52397234-52397234

 skinmalignant_melanomaSubstitution - Missense

c.2316G>A; p.R772R; 13:52377654-52377654

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2171C>A; p.P724H; 13:52377799-52377799

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2171C>A; p.P724H; 13:52377799-52377799

 thyroidother; neoplasmSubstitution - Missense

c.1765T>A; p.S589T; 13:52378205-52378205

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1041G>A; p.Q347Q; 13:52386167-52386167

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1359C>T; p.S453S; 13:52378611-52378611

 skinmalignant_melanomaSubstitution - coding silent

c.1359C>T; p.S453S; 13:52378611-52378611

 skinmalignant_melanomaSubstitution - coding silent

c.998G>T; p.C333F; 13:52397255-52397255

 livercarcinomaSubstitution - Missense

c.1532C>G; p.S511C; 13:52378438-52378438

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2098C>T; p.R700*; 13:52377872-52377872

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1903A>G; p.S635G; 13:52378067-52378067

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1896C>T; p.H632H; 13:52378074-52378074

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.784C>T; p.P262S; 13:52397469-52397469

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1113C>G; p.F371L; 13:52386095-52386095

 skinmalignant_melanomaSubstitution - Missense

c.530A>G; p.E177G; 13:52397723-52397723

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1123C>A; p.P375T; 13:52386085-52386085

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2057G>A; p.R686Q; 13:52377913-52377913

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2057G>A; p.R686Q; 13:52377913-52377913

 pancreascarcinomaSubstitution - Missense

c.1478G>A; p.G493D; 13:52378492-52378492

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1424G>A; p.R475H; 13:52378546-52378546

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1530C>T; p.A510A; 13:52378440-52378440

 thyroidother; neoplasmSubstitution - coding silent

c.928A>G; p.M310V; 13:52397325-52397325

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2010G>T; p.M670I; 13:52377960-52377960

 pancreascarcinomaSubstitution - Missense

c.2019G>A; p.L673L; 13:52377951-52377951

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2206A>G; p.R736G; 13:52377764-52377764

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.733G>A; p.V245M; 13:52397520-52397520

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1143C>T; p.S381S; 13:52386065-52386065

 skinmalignant_melanomaSubstitution - coding silent

c.475C>T; p.P159S; 13:52397778-52397778

 oesophaguscarcinomaSubstitution - Missense

c.1755C>G; p.F585L; 13:52378215-52378215

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2162C>A; p.P721Q; 13:52377808-52377808

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IIISubstitution - Missense

c.470C>T; p.P157L; 13:52397783-52397783

 thyroidcarcinomaSubstitution - Missense

c.1481T>A; p.I494N; 13:52378489-52378489

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1185C>T; p.F395F; 13:52378785-52378785

 skinmalignant_melanomaSubstitution - coding silent

c.2208G>T; p.R736S; 13:52377762-52377762

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2208G>T; p.R736S; 13:52377762-52377762

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.383C>A; p.P128H; 13:52397870-52397870

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1991C>T; p.P664L; 13:52377979-52377979

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.495C>T; p.I165I; 13:52397758-52397758

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1383G>A; p.K461K; 13:52378587-52378587

 skinmalignant_melanomaSubstitution - coding silent

c.1388C>T; p.S463L; 13:52378582-52378582

 skinmalignant_melanomaSubstitution - Missense

c.495C>T; p.I165I; 13:52397758-52397758

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.495C>T; p.I165I; 13:52397758-52397758

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1660G>T; p.V554L; 13:52378310-52378310

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1698G>A; p.A566A; 13:52378272-52378272

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1342C>T; p.P448S; 13:52378628-52378628

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.664C>A; p.L222I; 13:52397589-52397589

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1445delG; p.G482fs*15; 13:52378525-52378525

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2278C>T; p.R760C; 13:52377692-52377692

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1699G>A; p.A567T; 13:52378271-52378271

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1124C>T; p.P375L; 13:52386084-52386084

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2538C>T; p.S846S; 13:52377432-52377432

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.703G>T; p.D235Y; 13:52397550-52397550

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2444C>T; p.T815M; 13:52377526-52377526

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.373G>T; p.V125L; 13:52397880-52397880

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1000A>G; p.M334V; 13:52397253-52397253

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2370G>C; p.L790L; 13:52377600-52377600

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2148T>C; p.S716S; 13:52377822-52377822

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1876C>T; p.R626C; 13:52378094-52378094

 thyroidcarcinomaSubstitution - Missense

c.1876C>T; p.R626C; 13:52378094-52378094

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.352delG; p.E118fs*6; 13:52397901-52397901

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1435T>C; p.S479P; 13:52378535-52378535

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2263G>A; p.E755K; 13:52377707-52377707

 breastcarcinomaSubstitution - Missense

c.1892G>T; p.R631M; 13:52378078-52378078

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1581G>A; p.L527L; 13:52378389-52378389

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.780G>A; p.V260V; 13:52397473-52397473

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1498C>T; p.R500W; 13:52378472-52378472

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1635G>A; p.L545L; 13:52378335-52378335

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2033C>T; p.A678V; 13:52377937-52377937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1053G>T; p.Q351H; 13:52386155-52386155

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1666C>T; p.Q556*; 13:52378304-52378304

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Nonsense

c.1558G>A; p.A520T; 13:52378412-52378412

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1558G>A; p.A520T; 13:52378412-52378412

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.491A>G; p.N164S; 13:52397762-52397762

 skinmalignant_melanomaSubstitution - Missense

c.926A>G; p.D309G; 13:52397327-52397327

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.933G>A; p.G311G; 13:52397320-52397320

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1631G>A; p.G544D; 13:52378339-52378339

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.936G>T; p.K312N; 13:52397317-52397317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.757G>A; p.E253K; 13:52397496-52397496

 skinmalignant_melanomaSubstitution - Missense

c.115A>T; p.N39Y; 13:52398138-52398138

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.665T>G; p.L222R; 13:52397588-52397588

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2176C>T; p.P726S; 13:52377794-52377794

 skinmalignant_melanomaSubstitution - Missense

c.2176C>T; p.P726S; 13:52377794-52377794

 skinmalignant_melanomaSubstitution - Missense

c.1457C>T; p.T486M; 13:52378513-52378513

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2003G>A; p.R668K; 13:52377967-52377967

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.828G>T; p.K276N; 13:52397425-52397425

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2003G>A; p.R668K; 13:52377967-52377967

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1769C>T; p.P590L; 13:52378201-52378201

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1477G>A; p.G493S; 13:52378493-52378493

 skinmalignant_melanomaSubstitution - Missense

c.1769C>T; p.P590L; 13:52378201-52378201

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.637G>A; p.A213T; 13:52397616-52397616

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2409C>T; p.F803F; 13:52377561-52377561

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1987C>T; p.R663W; 13:52377983-52377983

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1263C>A; p.S421S; 13:52378707-52378707

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1504G>A; p.G502R; 13:52378466-52378466

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1504G>A; p.G502R; 13:52378466-52378466

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1708G>A; p.A570T; 13:52378262-52378262

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1708G>A; p.A570T; 13:52378262-52378262

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1961C>T; p.A654V; 13:52378009-52378009

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2034C>T; p.A678A; 13:52377936-52377936

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.89G>C; p.R30T; 13:52398164-52398164

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1540G>A; p.E514K; 13:52378430-52378430

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.394G>A; p.V132I; 13:52397859-52397859

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1540G>A; p.E514K; 13:52378430-52378430

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1437G>A; p.S479S; 13:52378533-52378533

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.471G>A; p.P157P; 13:52397782-52397782

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1038G>A; p.W346*; 13:52386170-52386170

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1038G>A; p.W346*; 13:52386170-52386170

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.157A>G; p.N53D; 13:52398096-52398096

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.670C>T; p.R224*; 13:52397583-52397583

 ovaryother; neoplasmSubstitution - Nonsense

c.733G>C; p.V245L; 13:52397520-52397520

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1178C>T; p.A393V; 13:52386030-52386030

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.105A>T; p.V35V; 13:52398148-52398148

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2065G>A; p.E689K; 13:52377905-52377905

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.821T>C; p.V274A; 13:52397432-52397432

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1421A>G; p.Q474R; 13:52378549-52378549

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1421A>G; p.Q474R; 13:52378549-52378549

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.1421A>G; p.Q474R; 13:52378549-52378549

 pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Substitution - Missense

c.2116C>T; p.P706S; 13:52377854-52377854

 skinmalignant_melanomaSubstitution - Missense

c.1441G>A; p.G481R; 13:52378529-52378529

 breastcarcinomaSubstitution - Missense

c.1441G>A; p.G481R; 13:52378529-52378529

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.58G>A; p.V20I; 13:52402543-52402543

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1590C>A; p.Y530*; 13:52378380-52378380

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Nonsense

c.717A>C; p.K239N; 13:52397536-52397536

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.921G>A; p.L307L; 13:52397332-52397332

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.597T>C; p.G199G; 13:52397656-52397656

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1576C>T; p.P526S; 13:52378394-52378394

 breastcarcinomaSubstitution - Missense

c.1697C>T; p.A566V; 13:52378273-52378273

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1697C>T; p.A566V; 13:52378273-52378273

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1424G>T; p.R475L; 13:52378546-52378546

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1942G>A; p.A648T; 13:52378028-52378028

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1445G>A; p.G482E; 13:52378525-52378525

 skinmalignant_melanomaSubstitution - Missense

c.1210C>T; p.Q404*; 13:52378760-52378760

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.930G>A; p.M310I; 13:52397323-52397323

 skinmalignant_melanomaSubstitution - Missense

c.2289G>A; p.P763P; 13:52377681-52377681

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.930G>A; p.M310I; 13:52397323-52397323

 skinmalignant_melanomaSubstitution - Missense

c.1087C>T; p.R363C; 13:52386121-52386121

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2225A>G; p.D742G; 13:52377745-52377745

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1087C>T; p.R363C; 13:52386121-52386121

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1087C>T; p.R363C; 13:52386121-52386121

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2377T>G; p.S793A; 13:52377593-52377593

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.467G>T; p.C156F; 13:52397786-52397786

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1706G>T; p.S569I; 13:52378264-52378264

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1620G>A; p.M540I; 13:52378350-52378350

 skinmalignant_melanomaSubstitution - Missense

c.1620G>A; p.M540I; 13:52378350-52378350

 skin; neckmalignant_melanomaSubstitution - Missense

c.2218C>A; p.L740I; 13:52377752-52377752

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2462A>T; p.E821V; 13:52377508-52377508

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1950C>T; p.F650F; 13:52378020-52378020

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.529G>A; p.E177K; 13:52397724-52397724

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1486C>A; p.L496M; 13:52378484-52378484

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2303A>G; p.K768R; 13:52377667-52377667

 thyroidother; neoplasmSubstitution - Missense

c.597T>A; p.G199G; 13:52397656-52397656

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2523C>A; p.T841T; 13:52377447-52377447

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2352C>T; p.Y784Y; 13:52377618-52377618

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1200A>G; p.P400P; 13:52378770-52378770

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1674C>A; p.P558P; 13:52378296-52378296

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.649G>A; p.V217M; 13:52397604-52397604

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1318G>A; p.G440S; 13:52378652-52378652

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1393G>A; p.E465K; 13:52378577-52378577

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1744G>A; p.A582T; 13:52378226-52378226

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.56A>G; p.Y19C; 13:52402545-52402545

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1855A>C; p.S619R; 13:52378115-52378115

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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