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

Basic Information

Gene ID

10335

Name

MRVI1

Synonymous

murine retrovirus integration site 1 homolog;MRVI1;murine retrovirus integration site 1 homolog

Definition

IP3R-associated cGMP kinase substrate|JAW1-related protein MRVI1|inositol 1,4,5-triphosphate receptor-associated cGMP kinase substrate|inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate|protein MRVI1

Position

11p15

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.1490G>A; p.S497N; 11:10609728-10609728

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1800G>A; p.K600K; 11:10601054-10601054

 livercarcinomaSubstitution - coding silent

c.1788C>A; p.V596V; 11:10603126-10603126

 livercarcinomaSubstitution - coding silent

c.1800G>A; p.K600K; 11:10601054-10601054

 livercarcinomaSubstitution - coding silent

c.682G>A; p.G228R; 11:10626571-10626571

 livercarcinomaSubstitution - Missense

c.2111G>A; p.G704E; 11:10591596-10591596

 skinmalignant_melanomaSubstitution - Missense

c.682G>A; p.G228R; 11:10626571-10626571

 livercarcinomaSubstitution - Missense

c.1604G>A; p.R535H; 11:10604463-10604463

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.153G>A; p.E51E; 11:10652070-10652070

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.153G>A; p.E51E; 11:10652070-10652070

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1861G>A; p.E621K; 11:10600993-10600993

 skinmalignant_melanomaSubstitution - Missense

c.643G>A; p.V215I; 11:10627742-10627742

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1604G>A; p.R535H; 11:10604463-10604463

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2451G>A; p.M817I; 11:10576539-10576539

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.860G>A; p.G287E; 11:10626393-10626393

 skinmalignant_melanomaSubstitution - Missense

c.2162G>T; p.G721V; 11:10581984-10581984

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1754G>A; p.R585H; 11:10603160-10603160

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.573C>T; p.S191S; 11:10628803-10628803

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1590G>T; p.Q530H; 11:10604477-10604477

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.803C>T; p.P268L; 11:10626450-10626450

 skinmalignant_melanomaSubstitution - Missense

c.2335G>A; p.E779K; 11:10580534-10580534

 skinmalignant_melanomaSubstitution - Missense

c.1134G>C; p.R378R; 11:10626119-10626119

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1259G>C; p.R420P; 11:10625994-10625994

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1367-4delT; p.?; 11:10609855-10609855

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1260G>A; p.R420R; 11:10625993-10625993

 pancreascarcinomaSubstitution - coding silent

c.1260G>A; p.R420R; 11:10625993-10625993

 pancreascarcinomaSubstitution - coding silent

c.2601C>A; p.A867A; 11:10576389-10576389

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1260G>A; p.R420R; 11:10625993-10625993

 pancreascarcinomaSubstitution - coding silent

c.1111G>A; p.G371S; 11:10626142-10626142

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2278G>A; p.G760R; 11:10581868-10581868

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.575C>T; p.A192V; 11:10628801-10628801

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.459G>A; p.A153A; 11:10629626-10629626

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2073C>T; p.S691S; 11:10593513-10593513

 skinmalignant_melanomaSubstitution - coding silent

c.2073C>T; p.S691S; 11:10593513-10593513

 skinmalignant_melanomaSubstitution - coding silent

c.1808C>T; p.S603L; 11:10601046-10601046

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.211G>A; p.A71T; 11:10634059-10634059

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1455G>A; p.L485L; 11:10609763-10609763

 livercarcinomaSubstitution - coding silent

c.1455G>A; p.L485L; 11:10609763-10609763

 livercarcinomaSubstitution - coding silent

c.1885G>A; p.E629K; 11:10600969-10600969

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.113C>T; p.S38F; 11:10652110-10652110

 skinmalignant_melanomaSubstitution - Missense

c.1120G>T; p.E374*; 11:10626133-10626133

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1603C>T; p.R535C; 11:10604464-10604464

 pancreascarcinomaSubstitution - Missense

c.630G>A; p.G210G; 11:10627755-10627755

 skinmalignant_melanomaSubstitution - coding silent

c.81C>T; p.D27D; 11:10652142-10652142

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.789G>T; p.K263N; 11:10626464-10626464

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.444G>A; p.K148K; 11:10629641-10629641

 prostatecarcinomaSubstitution - coding silent

c.1570C>T; p.L524L; 11:10604497-10604497

 skinmalignant_melanomaSubstitution - coding silent

c.2476C>A; p.Q826K; 11:10576514-10576514

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2639A>G; p.E880G; 11:10576351-10576351

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1802G>A; p.R601H; 11:10601052-10601052

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1180C>T; p.R394C; 11:10626073-10626073

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1180C>T; p.R394C; 11:10626073-10626073

 livercarcinomaSubstitution - Missense

c.488A>G; p.E163G; 11:10629597-10629597

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1180C>T; p.R394C; 11:10626073-10626073

 livercarcinomaSubstitution - Missense

c.620C>T; p.P207L; 11:10628756-10628756

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1185delT; p.F395fs*30; 11:10626068-10626068

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1251G>A; p.Q417Q; 11:10626002-10626002

 skinmalignant_melanomaSubstitution - coding silent

c.479T>A; p.L160*; 11:10629606-10629606

 central_nervous_system; thalamusglioma; oligodendroglioma_Grade_IIISubstitution - Nonsense

c.132G>A; p.M44I; 11:10652091-10652091

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1818G>A; p.T606T; 11:10601036-10601036

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.132G>A; p.M44I; 11:10652091-10652091

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2442A>T; p.L814F; 11:10576548-10576548

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1098C>T; p.L366L; 11:10626155-10626155

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1098C>T; p.L366L; 11:10626155-10626155

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1098C>T; p.L366L; 11:10626155-10626155

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2375T>G; p.V792G; 11:10580494-10580494

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.890G>A; p.G297D; 11:10626363-10626363

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2287G>A; p.E763K; 11:10580582-10580582

 skinmalignant_melanomaSubstitution - Missense

c.989C>T; p.P330L; 11:10626264-10626264

 skinmalignant_melanomaSubstitution - Missense

c.1359G>A; p.Q453Q; 11:10623785-10623785

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1996C>T; p.R666C; 11:10593590-10593590

 skinmalignant_melanomaSubstitution - Missense

c.1996C>T; p.R666C; 11:10593590-10593590

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.112T>C; p.S38P; 11:10652111-10652111

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1127G>T; p.G376V; 11:10626126-10626126

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.671A>G; p.N224S; 11:10626582-10626582

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.671A>G; p.N224S; 11:10626582-10626582

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2476C>T; p.Q826*; 11:10576514-10576514

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.771G>C; p.E257D; 11:10626482-10626482

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2263G>A; p.E755K; 11:10581883-10581883

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1347A>C; p.E449D; 11:10623797-10623797

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.817G>A; p.E273K; 11:10626436-10626436

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1239G>A; p.Q413Q; 11:10626014-10626014

 skinmalignant_melanomaSubstitution - coding silent

c.1281C>T; p.L427L; 11:10625972-10625972

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.515A>C; p.K172T; 11:10629570-10629570

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.104G>A; p.R35H; 11:10652119-10652119

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1824G>A; p.V608V; 11:10601030-10601030

 skinmalignant_melanomaSubstitution - coding silent

c.131T>A; p.M44K; 11:10652092-10652092

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.490C>T; p.R164*; 11:10629595-10629595

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1765C>T; p.R589*; 11:10603149-10603149

 pancreascarcinomaSubstitution - Nonsense

c.1682A>G; p.H561R; 11:10603232-10603232

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.719T>C; p.V240A; 11:10626534-10626534

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1765C>T; p.R589*; 11:10603149-10603149

 pancreascarcinomaSubstitution - Nonsense

c.556C>T; p.P186S; 11:10628820-10628820

 soft_tissue; striated_musclerhabdomyosarcomaSubstitution - Missense

c.66C>T; p.S22S; 11:10652157-10652157

 kidneyother; neoplasmSubstitution - coding silent

c.2380G>A; p.E794K; 11:10580489-10580489

 skinmalignant_melanomaSubstitution - Missense

c.1918C>T; p.R640C; 11:10600936-10600936

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1541C>G; p.S514C; 11:10604526-10604526

 breastcarcinomaSubstitution - Missense

c.1300A>C; p.M434L; 11:10623844-10623844

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2607G>A; p.R869R; 11:10576383-10576383

 skinmalignant_melanomaSubstitution - coding silent

c.256G>A; p.D86N; 11:10634014-10634014

 skinmalignant_melanomaSubstitution - Missense

c.1496C>A; p.P499H; 11:10606767-10606767

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1496C>A; p.P499H; 11:10606767-10606767

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1851G>A; p.K617K; 11:10601003-10601003

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1846C>A; p.L616I; 11:10601008-10601008

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.894C>G; p.P298P; 11:10626359-10626359

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.334C>T; p.R112*; 11:10632030-10632030

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.525C>A; p.S175R; 11:10629560-10629560

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2322G>A; p.L774L; 11:10580547-10580547

 skinmalignant_melanomaSubstitution - coding silent

c.36C>T; p.S12S; 11:10652187-10652187

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1297C>T; p.L433L; 11:10623847-10623847

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.374-1G>A; p.?; 11:10629712-10629712

 skinmalignant_melanomaUnknown

c.994G>C; p.A332P; 11:10626259-10626259

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1360G>A; p.E454K; 11:10623784-10623784

 skinmalignant_melanomaSubstitution - Missense

c.1345G>A; p.E449K; 11:10623799-10623799

 skinmalignant_melanomaSubstitution - Missense

c.499A>C; p.T167P; 11:10629586-10629586

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.499A>C; p.T167P; 11:10629586-10629586

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.458C>A; p.A153E; 11:10629627-10629627

 ovaryother; neoplasmSubstitution - Missense

c.2604G>A; p.Q868Q; 11:10576386-10576386

 skinmalignant_melanomaSubstitution - coding silent

c.1171G>A; p.E391K; 11:10626082-10626082

 skinmalignant_melanomaSubstitution - Missense

c.2257G>A; p.E753K; 11:10581889-10581889

 skinmalignant_melanomaSubstitution - Missense

c.1801C>T; p.R601C; 11:10601053-10601053

 central_nervous_system; braingliomaSubstitution - Missense

c.773T>C; p.I258T; 11:10626480-10626480

 skinmalignant_melanomaSubstitution - Missense

c.2570G>A; p.G857E; 11:10576420-10576420

 pancreascarcinomaSubstitution - Missense

c.2570G>A; p.G857E; 11:10576420-10576420

 pancreascarcinomaSubstitution - Missense

c.2570G>A; p.G857E; 11:10576420-10576420

 pancreascarcinomaSubstitution - Missense

c.953C>T; p.P318L; 11:10626300-10626300

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1839G>A; p.V613V; 11:10601015-10601015

 skinmalignant_melanomaSubstitution - coding silent

c.1949C>A; p.P650H; 11:10594183-10594183

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1052C>G; p.A351G; 11:10626201-10626201

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1051G>A; p.A351T; 11:10626202-10626202

 skinmalignant_melanomaSubstitution - Missense

c.1698G>C; p.R566R; 11:10603216-10603216

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1553G>C; p.R518T; 11:10604514-10604514

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1987-1G>A; p.?; 11:10593600-10593600

 skinmalignant_melanomaUnknown

c.822C>T; p.T274T; 11:10626431-10626431

 skinmalignant_melanomaSubstitution - coding silent

c.557C>G; p.P186R; 11:10628819-10628819

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2048C>G; p.P683R; 11:10593538-10593538

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1570C>G; p.L524V; 11:10604497-10604497

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.594G>A; p.R198R; 11:10628782-10628782

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2338G>T; p.E780*; 11:10580531-10580531

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1003G>A; p.G335R; 11:10626250-10626250

 skinmalignant_melanomaSubstitution - Missense

c.1450C>A; p.L484M; 11:10609768-10609768

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2523G>T; p.V841V; 11:10576467-10576467

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1450C>A; p.L484M; 11:10609768-10609768

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.458C>T; p.A153V; 11:10629627-10629627

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2000G>A; p.R667Q; 11:10593586-10593586

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2227G>T; p.E743*; 11:10581919-10581919

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1974C>A; p.L658L; 11:10594158-10594158

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1857G>A; p.T619T; 11:10600997-10600997

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.31A>G; p.I11V; 11:10652192-10652192

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.31A>G; p.I11V; 11:10652192-10652192

 thyroidother; neoplasmSubstitution - Missense

c.31A>G; p.I11V; 11:10652192-10652192

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1729G>A; p.A577T; 11:10603185-10603185

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1846C>G; p.L616V; 11:10601008-10601008

 breastcarcinomaSubstitution - Missense

c.198A>G; p.Q66Q; 11:10652025-10652025

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1913C>A; p.S638*; 11:10600941-10600941

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1856C>T; p.T619M; 11:10600998-10600998

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.801T>C; p.D267D; 11:10626452-10626452

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.790G>T; p.E264*; 11:10626463-10626463

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1997G>A; p.R666H; 11:10593589-10593589

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1864A>G; p.K622E; 11:10600990-10600990

 livercarcinomaSubstitution - Missense

c.1864A>G; p.K622E; 11:10600990-10600990

 livercarcinomaSubstitution - Missense

c.693C>A; p.D231E; 11:10626560-10626560

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.821C>T; p.T274I; 11:10626432-10626432

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1766G>C; p.R589P; 11:10603148-10603148

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2023C>T; p.P675S; 11:10593563-10593563

 skinmalignant_melanomaSubstitution - Missense

c.1935T>A; p.S645S; 11:10600919-10600919

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1231G>T; p.D411Y; 11:10626022-10626022

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1999C>T; p.R667W; 11:10593587-10593587

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1185_1186insT; p.A396fs*53; 11:10626067-10626068

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourInsertion - Frameshift

c.1794G>T; p.Q598H; 11:10603120-10603120

 breastcarcinomaSubstitution - Missense

c.1908G>A; p.Q636Q; 11:10600946-10600946

 NSmalignant_melanomaSubstitution - coding silent

c.1908G>A; p.Q636Q; 11:10600946-10600946

 NSmalignant_melanomaSubstitution - coding silent

c.1591G>T; p.A531S; 11:10604476-10604476

 skinmalignant_melanomaSubstitution - Missense

c.342G>C; p.L114F; 11:10632022-10632022

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2578G>T; p.G860*; 11:10576412-10576412

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.443A>G; p.K148R; 11:10629642-10629642

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2308G>T; p.E770*; 11:10580561-10580561

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2308G>T; p.E770*; 11:10580561-10580561

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.346G>A; p.V116M; 11:10632018-10632018

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.706G>A; p.D236N; 11:10626547-10626547

 skinmalignant_melanomaSubstitution - Missense

c.1352C>T; p.A451V; 11:10623792-10623792

 skinmalignant_melanomaSubstitution - Missense

c.2656T>C; p.*886Q; 11:10576334-10576334

 pancreascarcinomaNonstop extension

c.2656T>C; p.*886Q; 11:10576334-10576334

 pancreascarcinomaNonstop extension

c.1421T>A; p.L474*; 11:10609797-10609797

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1553G>A; p.R518K; 11:10604514-10604514

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1174G>A; p.E392K; 11:10626079-10626079

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.728G>A; p.G243D; 11:10626525-10626525

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1875G>A; p.A625A; 11:10600979-10600979

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1875G>A; p.A625A; 11:10600979-10600979

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1456C>T; p.R486C; 11:10609762-10609762

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1781G>A; p.G594D; 11:10603133-10603133

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2365C>A; p.P789T; 11:10580504-10580504

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1604G>C; p.R535P; 11:10604463-10604463

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.86C>T; p.A29V; 11:10652137-10652137

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

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