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

Basic Information

Gene ID

4013

Name

VWA5A

Synonymous

von Willebrand factor A domain containing 5A;VWA5A;von Willebrand factor A domain containing 5A

Definition

breast cancer suppressor candidate 1|loss of heterozygosity 11 chromosomal region 2 gene A protein|loss of heterozygosity, 11, chromosomal region 2, gene A|ortholog of mouse AW551984|von Willebrand factor A domain-containing protein 5A

Position

11q24.1

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 0.13.

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.1355C>T; p.S452F; 11:124135030-124135030

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1554C>A; p.L518L; 11:124136603-124136603

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.738G>T; p.M246I; 11:124119067-124119067

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1566C>A; p.L522L; 11:124136615-124136615

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1114C>T; p.P372S; 11:124123754-124123754

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2236G>C; p.E746Q; 11:124145318-124145318

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1663C>T; p.Q555*; 11:124137052-124137052

 skinmalignant_melanomaSubstitution - Nonsense

c.2349C>A; p.I783I; 11:124145933-124145933

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1151G>T; p.G384V; 11:124123791-124123791

 livercarcinomaSubstitution - Missense

c.1626C>T; p.N542N; 11:124137015-124137015

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - coding silent

c.2235G>T; p.W745C; 11:124145317-124145317

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2274C>T; p.A758A; 11:124145356-124145356

 soft_tissue; blood_vesselangiosarcomaSubstitution - coding silent

c.811C>T; p.P271S; 11:124123010-124123010

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.927C>T; p.A309A; 11:124123126-124123126

 breastcarcinomaSubstitution - coding silent

c.163A>G; p.M55V; 11:124117792-124117792

 eye; uveal_tractmalignant_melanoma; mixedSubstitution - Missense

c.985T>C; p.Y329H; 11:124123420-124123420

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.800A>G; p.Y267C; 11:124122999-124122999

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.689T>C; p.L230P; 11:124119018-124119018

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.689T>C; p.L230P; 11:124119018-124119018

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1715C>T; p.A572V; 11:124137104-124137104

 pancreascarcinomaSubstitution - Missense

c.1795G>A; p.V599I; 11:124137184-124137184

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.830A>T; p.N277I; 11:124123029-124123029

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1759G>T; p.A587S; 11:124137148-124137148

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1913C>T; p.P638L; 11:124141631-124141631

 skinmalignant_melanomaSubstitution - Missense

c.2276A>G; p.H759R; 11:124145358-124145358

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.294C>T; p.F98F; 11:124118236-124118236

 skinmalignant_melanomaSubstitution - coding silent

c.246+2T>A; p.?; 11:124117877-124117877

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.2276A>G; p.H759R; 11:124145358-124145358

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.281G>A; p.G94D; 11:124118223-124118223

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1096G>A; p.G366S; 11:124123736-124123736

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1598T>G; p.F533C; 11:124136647-124136647

 skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.2075G>T; p.G692V; 11:124142493-124142493

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.632A>G; p.K211R; 11:124118695-124118695

 breastcarcinomaSubstitution - Missense

c.1473C>A; p.I491I; 11:124136242-124136242

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1822G>A; p.V608I; 11:124137211-124137211

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.865T>G; p.S289A; 11:124123064-124123064

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1865T>C; p.I622T; 11:124137254-124137254

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1204A>G; p.S402G; 11:124124276-124124276

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1122G>T; p.Q374H; 11:124123762-124123762

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.682G>A; p.V228M; 11:124119011-124119011

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1706A>T; p.K569I; 11:124137095-124137095

 thyroidother; neoplasmSubstitution - Missense

c.505C>T; p.P169S; 11:124118568-124118568

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1042C>T; p.Q348*; 11:124123682-124123682

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1157C>T; p.P386L; 11:124123797-124123797

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1798C>T; p.Q600*; 11:124137187-124137187

 autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.1485G>T; p.Q495H; 11:124136254-124136254

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2152G>T; p.E718*; 11:124142570-124142570

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1468G>A; p.V490I; 11:124136237-124136237

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.82G>T; p.E28*; 11:124117711-124117711

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.1124A>C; p.N375T; 11:124123764-124123764

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2120G>T; p.S707I; 11:124142538-124142538

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1984C>A; p.L662I; 11:124141702-124141702

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2255C>T; p.A752V; 11:124145337-124145337

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.2255C>T; p.A752V; 11:124145337-124145337

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1971G>T; p.M657I; 11:124141689-124141689

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.898G>T; p.D300Y; 11:124123097-124123097

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2255C>T; p.A752V; 11:124145337-124145337

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1663C>A; p.Q555K; 11:124137052-124137052

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1795G>T; p.V599F; 11:124137184-124137184

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.597C>T; p.C199C; 11:124118660-124118660

 skinmalignant_melanomaSubstitution - coding silent

c.1507C>A; p.L503M; 11:124136276-124136276

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1685G>A; p.R562K; 11:124137074-124137074

 skinmalignant_melanomaSubstitution - Missense

c.2216A>C; p.K739T; 11:124145298-124145298

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1912C>T; p.P638S; 11:124141630-124141630

 skinmalignant_melanomaSubstitution - Missense

c.1912C>T; p.P638S; 11:124141630-124141630

 skinmalignant_melanomaSubstitution - Missense

c.249C>T; p.A83A; 11:124118191-124118191

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1738G>A; p.G580S; 11:124137127-124137127

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.555C>G; p.T185T; 11:124118618-124118618

 skinmalignant_melanomaSubstitution - coding silent

c.1363C>T; p.L455F; 11:124136132-124136132

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.208G>T; p.G70W; 11:124117837-124117837

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.661G>A; p.G221R; 11:124118990-124118990

 central_nervous_system; braingliomaSubstitution - Missense

c.222A>G; p.V74V; 11:124117851-124117851

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2205C>T; p.H735H; 11:124145287-124145287

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2253G>T; p.K751N; 11:124145335-124145335

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.215A>C; p.K72T; 11:124117844-124117844

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.688C>T; p.L230F; 11:124119017-124119017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2150C>G; p.A717G; 11:124142568-124142568

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2253G>T; p.K751N; 11:124145335-124145335

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1813C>T; p.H605Y; 11:124137202-124137202

 breastcarcinomaSubstitution - Missense

c.1813C>T; p.H605Y; 11:124137202-124137202

 skinmalignant_melanomaSubstitution - Missense

c.1571G>C; p.G524A; 11:124136620-124136620

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.214A>G; p.K72E; 11:124117843-124117843

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.444C>G; p.V148V; 11:124118386-124118386

 livercarcinomaSubstitution - coding silent

c.444C>G; p.V148V; 11:124118386-124118386

 livercarcinomaSubstitution - coding silent

c.1562C>G; p.T521R; 11:124136611-124136611

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2238G>A; p.E746E; 11:124145320-124145320

 skinmalignant_melanomaSubstitution - coding silent

c.1751C>T; p.S584F; 11:124137140-124137140

 skinmalignant_melanomaSubstitution - Missense

c.1998A>G; p.I666M; 11:124141716-124141716

 skinmalignant_melanomaSubstitution - Missense

c.861C>T; p.D287D; 11:124123060-124123060

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1700G>T; p.S567I; 11:124137089-124137089

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1510A>G; p.T504A; 11:124136279-124136279

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.306G>A; p.G102G; 11:124118248-124118248

 skinmalignant_melanomaSubstitution - coding silent

c.2064A>T; p.Q688H; 11:124142482-124142482

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.425G>T; p.R142L; 11:124118367-124118367

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.425G>T; p.R142L; 11:124118367-124118367

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.315C>T; p.S105S; 11:124118257-124118257

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1974C>T; p.D658D; 11:124141692-124141692

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2272G>A; p.A758T; 11:124145354-124145354

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1832C>A; p.P611Q; 11:124137221-124137221

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.369G>A; p.A123A; 11:124118311-124118311

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.256A>G; p.N86D; 11:124118198-124118198

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1810G>A; p.A604T; 11:124137199-124137199

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1294G>T; p.G432C; 11:124134969-124134969

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1019+1G>C; p.?; 11:124123455-124123455

 lungcarcinoma; adenocarcinomaUnknown

c.1710A>G; p.K570K; 11:124137099-124137099

 breastcarcinoma; HER-positive_carcinomaSubstitution - coding silent

c.47C>T; p.P16L; 11:124117676-124117676

 stomachadenocarcinomaSubstitution - Missense

c.1343A>G; p.D448G; 11:124135018-124135018

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2281+1G>T; p.?; 11:124145364-124145364

 skinmalignant_melanomaUnknown

c.2281+1G>T; p.?; 11:124145364-124145364

 skinmalignant_melanomaUnknown

c.1764C>A; p.F588L; 11:124137153-124137153

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1019+1G>A; p.?; 11:124123455-124123455

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1128T>G; p.I376M; 11:124123768-124123768

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2210A>T; p.N737I; 11:124145292-124145292

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1705delA; p.D571fs*3; 11:124137094-124137094

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1705delA; p.D571fs*3; 11:124137094-124137094

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.227A>C; p.E76A; 11:124117856-124117856

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1503C>T; p.A501A; 11:124136272-124136272

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.833C>T; p.T278I; 11:124123032-124123032

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1223G>A; p.R408K; 11:124124295-124124295

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2018G>A; p.S673N; 11:124141736-124141736

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2010C>T; p.D670D; 11:124141728-124141728

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1936G>A; p.E646K; 11:124141654-124141654

 skinmalignant_melanomaSubstitution - Missense

c.1001C>T; p.S334F; 11:124123436-124123436

 skinmalignant_melanomaSubstitution - Missense

c.1081C>T; p.Q361*; 11:124123721-124123721

 pancreascarcinomaSubstitution - Nonsense

c.1477A>G; p.R493G; 11:124136246-124136246

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.690C>G; p.L230L; 11:124119019-124119019

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1903G>C; p.D635H; 11:124141621-124141621

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1814A>T; p.H605L; 11:124137203-124137203

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.779C>T; p.P260L; 11:124122978-124122978

 skinmalignant_melanomaSubstitution - Missense

c.1110G>T; p.L370F; 11:124123750-124123750

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1253C>T; p.S418L; 11:124134928-124134928

 skinmalignant_melanomaSubstitution - Missense

c.1652A>G; p.K551R; 11:124137041-124137041

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2270G>A; p.R757H; 11:124145352-124145352

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.76A>T; p.I26F; 11:124117705-124117705

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.774A>G; p.G258G; 11:124122973-124122973

 skinmalignant_melanomaSubstitution - coding silent

c.1312delG; p.G439fs*20; 11:124134987-124134987

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.954G>A; p.K318K; 11:124123389-124123389

 breastcarcinomaSubstitution - coding silent

c.2297C>T; p.S766L; 11:124145881-124145881

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1421A>T; p.H474L; 11:124136190-124136190

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.613G>T; p.E205*; 11:124118676-124118676

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.817G>A; p.D273N; 11:124123016-124123016

 skinmalignant_melanomaSubstitution - Missense

c.1600C>T; p.P534S; 11:124136649-124136649

 skinmalignant_melanomaSubstitution - Missense

c.1421_1422insT; p.L475fs*8; 11:124136190-124136191

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1600C>T; p.P534S; 11:124136649-124136649

 skinmalignant_melanomaSubstitution - Missense

c.667A>G; p.K223E; 11:124118996-124118996

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1760C>T; p.A587V; 11:124137149-124137149

 skinmalignant_melanomaSubstitution - Missense

c.1213A>G; p.K405E; 11:124124285-124124285

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2050C>T; p.L684L; 11:124142468-124142468

 skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.1848T>C; p.A616A; 11:124137237-124137237

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2062C>T; p.Q688*; 11:124142480-124142480

 skinmalignant_melanomaSubstitution - Nonsense

c.2341C>T; p.P781S; 11:124145925-124145925

 NSmalignant_melanomaSubstitution - Missense

c.2341C>T; p.P781S; 11:124145925-124145925

 NSmalignant_melanomaSubstitution - Missense

c.1465A>C; p.T489P; 11:124136234-124136234

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1208T>C; p.V403A; 11:124124280-124124280

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1664A>C; p.Q555P; 11:124137053-124137053

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.159C>T; p.F53F; 11:124117788-124117788

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1473C>T; p.I491I; 11:124136242-124136242

 skinmalignant_melanomaSubstitution - coding silent

c.1625+1G>C; p.?; 11:124136675-124136675

 lungcarcinoma; adenocarcinomaUnknown

c.2308G>C; p.A770P; 11:124145892-124145892

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1233A>G; p.R411R; 11:124124305-124124305

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1525-9A>T; p.?; 11:124136565-124136565

 livercarcinomaUnknown

c.69C>T; p.S23S; 11:124117698-124117698

 prostatecarcinomaSubstitution - coding silent

c.483C>T; p.D161D; 11:124118546-124118546

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1594A>G; p.T532A; 11:124136643-124136643

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2109C>T; p.I703I; 11:124142527-124142527

 skinmalignant_melanomaSubstitution - coding silent

c.2300T>G; p.V767G; 11:124145884-124145884

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.967G>A; p.G323S; 11:124123402-124123402

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2109C>T; p.I703I; 11:124142527-124142527

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.510A>G; p.I170M; 11:124118573-124118573

 skinmalignant_melanomaSubstitution - Missense

c.301G>T; p.E101*; 11:124118243-124118243

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.790G>C; p.V264L; 11:124122989-124122989

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1906C>T; p.R636C; 11:124141624-124141624

 skinmalignant_melanomaSubstitution - Missense

c.470G>A; p.G157E; 11:124118533-124118533

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1319C>T; p.T440I; 11:124134994-124134994

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2204A>G; p.H735R; 11:124145286-124145286

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.302A>G; p.E101G; 11:124118244-124118244

 kidneyother; neoplasmSubstitution - Missense

c.1892C>T; p.A631V; 11:124141610-124141610

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.890G>A; p.S297N; 11:124123089-124123089

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1209A>G; p.V403V; 11:124124281-124124281

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.251G>A; p.R84H; 11:124118193-124118193

 prostateadenomaSubstitution - Missense

c.1705A>C; p.K569Q; 11:124137094-124137094

 livercarcinomaSubstitution - Missense

c.1856_1857insA; p.L620fs*16; 11:124137245-124137246

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.474G>A; p.S158S; 11:124118537-124118537

 prostatecarcinomaSubstitution - coding silent

c.1687G>T; p.E563*; 11:124137076-124137076

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2159T>A; p.V720E; 11:124145241-124145241

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.136C>T; p.P46S; 11:124117765-124117765

 skinmalignant_melanomaSubstitution - Missense

c.582G>T; p.K194N; 11:124118645-124118645

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.582G>T; p.K194N; 11:124118645-124118645

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.136C>T; p.P46S; 11:124117765-124117765

 skinmalignant_melanomaSubstitution - Missense

c.582G>T; p.K194N; 11:124118645-124118645

 large_intestine; coloncarcinomaSubstitution - Missense

c.136C>T; p.P46S; 11:124117765-124117765

 skinmalignant_melanomaSubstitution - Missense

c.582G>T; p.K194N; 11:124118645-124118645

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.136C>T; p.P46S; 11:124117765-124117765

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2275C>T; p.H759Y; 11:124145357-124145357

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.543C>T; p.S181S; 11:124118606-124118606

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.518T>G; p.V173G; 11:124118581-124118581

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.874A>G; p.M292V; 11:124123073-124123073

 skinmalignant_melanomaSubstitution - Missense

c.1224G>C; p.R408S; 11:124124296-124124296

 stomachadenocarcinomaSubstitution - Missense

c.58A>G; p.I20V; 11:124117687-124117687

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.775G>A; p.D259N; 11:124122974-124122974

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1594A>T; p.T532S; 11:124136643-124136643

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.954G>C; p.K318N; 11:124123389-124123389

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.641C>T; p.A214V; 11:124118704-124118704

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2230G>A; p.E744K; 11:124145312-124145312

 skinmalignant_melanomaSubstitution - Missense

c.676C>T; p.R226W; 11:124119005-124119005

 skin; armmalignant_melanomaSubstitution - Missense

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