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

Basic Information

Gene ID

79798

Name

ARMC5

Synonymous

armadillo repeat containing 5;ARMC5;armadillo repeat containing 5

Definition

armadillo repeat-containing protein 5

Position

16p11.2

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 0.05.

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.342C>G; p.L114L; 16:31459581-31459581

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1357G>T; p.E453*; 16:31462619-31462619

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.776G>A; p.C259Y; 16:31461937-31461937

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1357G>T; p.E453*; 16:31462619-31462619

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2878G>A; p.G960S; 16:31466674-31466674

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2878G>A; p.G960S; 16:31466674-31466674

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2763C>T; p.P921P; 16:31466559-31466559

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1509G>A; p.Q503Q; 16:31462771-31462771

 breastcarcinomaSubstitution - coding silent

c.1840_1841insG; p.R616fs*17; 16:31464578-31464579

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.468C>T; p.F156F; 16:31459707-31459707

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1977A>T; p.P659P; 16:31464715-31464715

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2097T>C; p.D699D; 16:31464835-31464835

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.77C>G; p.S26W; 16:31458473-31458473

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.719G>A; p.C240Y; 16:31459958-31459958

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2214G>A; p.T738T; 16:31465914-31465914

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2214G>A; p.T738T; 16:31465914-31465914

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2214G>A; p.T738T; 16:31465914-31465914

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2086G>A; p.A696T; 16:31464824-31464824

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2214G>A; p.T738T; 16:31465914-31465914

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2214G>A; p.T738T; 16:31465914-31465914

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2481C>T; p.S827S; 16:31466277-31466277

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2935T>G; p.C979G; 16:31466731-31466731

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1083C>T; p.S361S; 16:31462345-31462345

 skinmalignant_melanomaSubstitution - coding silent

c.1020C>T; p.L340L; 16:31462282-31462282

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.747C>T; p.G249G; 16:31459986-31459986

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1509_1510GG>AT; p.A504S; 16:31462771-31462772

 breastcarcinomaSubstitution - Missense

c.2807G>A; p.R936H; 16:31466603-31466603

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2213C>T; p.T738M; 16:31465913-31465913

 pancreascarcinomaSubstitution - Missense

c.2609G>A; p.R870Q; 16:31466405-31466405

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2807G>A; p.R936H; 16:31466603-31466603

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.333C>G; p.L111L; 16:31459572-31459572

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.333C>G; p.L111L; 16:31459572-31459572

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1884C>T; p.S628S; 16:31464622-31464622

 skinmalignant_melanomaSubstitution - coding silent

c.333C>G; p.L111L; 16:31459572-31459572

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.333C>G; p.L111L; 16:31459572-31459572

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2742C>A; p.P914P; 16:31466538-31466538

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2256C>T; p.C752C; 16:31465956-31465956

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2585C>G; p.S862*; 16:31466381-31466381

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1381C>T; p.R461W; 16:31462643-31462643

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1050C>T; p.T350T; 16:31462312-31462312

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1382G>A; p.R461Q; 16:31462644-31462644

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1382G>A; p.R461Q; 16:31462644-31462644

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.730G>T; p.V244L; 16:31459969-31459969

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2000G>A; p.R667H; 16:31464738-31464738

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1619C>T; p.P540L; 16:31462881-31462881

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1384G>T; p.D462Y; 16:31462646-31462646

 livercarcinomaSubstitution - Missense

c.1961C>A; p.P654Q; 16:31464699-31464699

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1384G>T; p.D462Y; 16:31462646-31462646

 livercarcinomaSubstitution - Missense

c.2604C>G; p.F868L; 16:31466400-31466400

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.869G>T; p.G290V; 16:31462131-31462131

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.753C>T; p.L251L; 16:31459992-31459992

 skinmalignant_melanomaSubstitution - coding silent

c.290C>T; p.A97V; 16:31459529-31459529

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1954G>A; p.G652S; 16:31464692-31464692

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1756C>T; p.P586S; 16:31464494-31464494

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1999C>T; p.R667C; 16:31464737-31464737

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1229G>A; p.R410Q; 16:31462491-31462491

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2606T>G; p.F869C; 16:31466402-31466402

 skinmalignant_melanomaSubstitution - Missense

c.1646G>A; p.R549Q; 16:31462908-31462908

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1096C>T; p.R366W; 16:31462358-31462358

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2049C>A; p.G683G; 16:31464787-31464787

 thyroidother; neoplasmSubstitution - coding silent

c.2769G>A; p.L923L; 16:31466565-31466565

 livercarcinomaSubstitution - coding silent

c.665A>G; p.K222R; 16:31459904-31459904

 skinmalignant_melanomaSubstitution - Missense

c.675C>T; p.D225D; 16:31459914-31459914

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2769G>A; p.L923L; 16:31466565-31466565

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.647C>T; p.P216L; 16:31459886-31459886

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2027A>C; p.E676A; 16:31464765-31464765

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1143C>T; p.L381L; 16:31462405-31462405

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.455G>A; p.G152E; 16:31459694-31459694

 skinmalignant_melanomaSubstitution - Missense

c.374A>G; p.E125G; 16:31459613-31459613

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.2968C>T; p.P990S; 16:31466764-31466764

 skinmalignant_melanomaSubstitution - Missense

c.1450C>T; p.R484C; 16:31462712-31462712

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2141G>A; p.R714Q; 16:31464879-31464879

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1354C>T; p.R452C; 16:31462616-31462616

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1064G>A; p.R355H; 16:31462326-31462326

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1330G>A; p.V444M; 16:31462592-31462592

 breastcarcinomaSubstitution - Missense

c.2283-1G>A; p.?; 16:31466078-31466078

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.772C>T; p.Q258*; 16:31461933-31461933

 breastcarcinomaSubstitution - Nonsense

c.2299C>T; p.R767C; 16:31466095-31466095

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1260G>T; p.E420D; 16:31462522-31462522

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1645C>T; p.R549W; 16:31462907-31462907

 breastcarcinomaSubstitution - Missense

c.1805C>T; p.P602L; 16:31464543-31464543

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1365C>G; p.I455M; 16:31462627-31462627

 breastcarcinomaSubstitution - Missense

c.2915G>T; p.R972L; 16:31466711-31466711

 skinmalignant_melanomaSubstitution - Missense

c.915G>A; p.S305S; 16:31462177-31462177

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2510C>T; p.P837L; 16:31466306-31466306

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1603C>G; p.P535A; 16:31462865-31462865

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2534T>G; p.L845R; 16:31466330-31466330

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2811C>A; p.F937L; 16:31466607-31466607

 breastcarcinomaSubstitution - Missense

c.617C>T; p.P206L; 16:31459856-31459856

 skinmalignant_melanomaSubstitution - Missense

c.2132G>T; p.S711I; 16:31464870-31464870

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2132G>T; p.S711I; 16:31464870-31464870

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1993C>T; p.L665L; 16:31464731-31464731

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1471G>T; p.G491W; 16:31462733-31462733

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.348G>A; p.A116A; 16:31459587-31459587

 central_nervous_system; braingliomaSubstitution - coding silent

c.2716C>T; p.R906W; 16:31466512-31466512

 prostatecarcinomaSubstitution - Missense

c.1288C>T; p.R430W; 16:31462550-31462550

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2632G>A; p.A878T; 16:31466428-31466428

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2353C>T; p.R785W; 16:31466149-31466149

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.333C>T; p.L111L; 16:31459572-31459572

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1323G>A; p.Q441Q; 16:31462585-31462585

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1370G>C; p.R457P; 16:31462632-31462632

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.632C>T; p.S211L; 16:31459871-31459871

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2125C>A; p.L709I; 16:31464863-31464863

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.906C>G; p.C302W; 16:31462168-31462168

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2125C>A; p.L709I; 16:31464863-31464863

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2733C>A; p.A911A; 16:31466529-31466529

 pancreascarcinomaSubstitution - coding silent

c.1925C>G; p.A642G; 16:31464663-31464663

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.830C>T; p.A277V; 16:31461991-31461991

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.830C>T; p.A277V; 16:31461991-31461991

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.697G>T; p.D233Y; 16:31459936-31459936

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1599C>A; p.D533E; 16:31462861-31462861

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.635C>T; p.S212F; 16:31459874-31459874

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1599C>A; p.D533E; 16:31462861-31462861

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2529C>T; p.P843P; 16:31466325-31466325

 skinmalignant_melanomaSubstitution - coding silent

c.1228C>T; p.R410W; 16:31462490-31462490

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.913T>A; p.S305T; 16:31462175-31462175

 livercarcinomaSubstitution - Missense

c.1162C>G; p.P388A; 16:31462424-31462424

 breastcarcinomaSubstitution - Missense

c.1582G>C; p.E528Q; 16:31462844-31462844

 livercarcinomaSubstitution - Missense

c.1582G>C; p.E528Q; 16:31462844-31462844

 livercarcinomaSubstitution - Missense

c.2402C>T; p.S801F; 16:31466198-31466198

 skinmalignant_melanomaSubstitution - Missense

c.2127C>G; p.L709L; 16:31464865-31464865

 thyroidother; neoplasmSubstitution - coding silent

c.1530C>T; p.L510L; 16:31462792-31462792

 ovaryother; neoplasmSubstitution - coding silent

c.1144G>T; p.V382F; 16:31462406-31462406

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2819C>T; p.P940L; 16:31466615-31466615

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1510G>T; p.A504S; 16:31462772-31462772

 breastcarcinomaSubstitution - Missense

c.621C>T; p.S207S; 16:31459860-31459860

 skinmalignant_melanomaSubstitution - coding silent

c.2325T>C; p.G775G; 16:31466121-31466121

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.758T>C; p.L253S; 16:31459997-31459997

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.641C>T; p.P214L; 16:31459880-31459880

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1529T>C; p.L510P; 16:31462791-31462791

 ovaryother; neoplasmSubstitution - Missense

c.403C>G; p.L135V; 16:31459642-31459642

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1148G>A; p.S383N; 16:31462410-31462410

 livercarcinomaSubstitution - Missense

c.1148G>A; p.S383N; 16:31462410-31462410

 livercarcinomaSubstitution - Missense

c.1412G>A; p.G471D; 16:31462674-31462674

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.473C>T; p.A158V; 16:31459712-31459712

 skin; extremitymalignant_melanomaSubstitution - Missense

c.760+1G>T; p.?; 16:31460000-31460000

 lung; right_upper_lobecarcinoma; adenocarcinomaUnknown

c.2305C>T; p.L769L; 16:31466101-31466101

 skinmalignant_melanomaSubstitution - coding silent

c.1528C>T; p.L510F; 16:31462790-31462790

 ovaryother; neoplasmSubstitution - Missense

c.1968G>A; p.P656P; 16:31464706-31464706

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.615_616CC>TT; p.P206S; 16:31459854-31459855

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.311C>A; p.T104K; 16:31459550-31459550

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2354G>A; p.R785Q; 16:31466150-31466150

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2472C>T; p.D824D; 16:31466268-31466268

 skinmalignant_melanomaSubstitution - coding silent

c.2412A>T; p.Q804H; 16:31466208-31466208

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2412A>T; p.Q804H; 16:31466208-31466208

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2095G>A; p.D699N; 16:31464833-31464833

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.946C>T; p.R316C; 16:31462208-31462208

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2393A>G; p.D798G; 16:31466189-31466189

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2063G>A; p.R688Q; 16:31464801-31464801

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1006C>T; p.P336S; 16:31462268-31462268

 skinmalignant_melanomaSubstitution - Missense

c.720C>T; p.C240C; 16:31459959-31459959

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.937C>T; p.R313C; 16:31462199-31462199

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2397C>T; p.S799S; 16:31466193-31466193

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2111G>A; p.R704H; 16:31464849-31464849

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.622G>A; p.A208T; 16:31459861-31459861

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2662C>T; p.R888*; 16:31466458-31466458

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1978C>T; p.R660C; 16:31464716-31464716

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2329C>T; p.R777W; 16:31466125-31466125

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.746G>T; p.G249V; 16:31459985-31459985

 livercarcinomaSubstitution - Missense

c.746G>T; p.G249V; 16:31459985-31459985

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1003C>T; p.R335C; 16:31462265-31462265

 pancreascarcinoid-endocrine_tumour; islet_cellSubstitution - Missense

c.1063C>T; p.R355C; 16:31462325-31462325

 ovaryother; neoplasmSubstitution - Missense

c.1063C>T; p.R355C; 16:31462325-31462325

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.812G>A; p.R271H; 16:31461973-31461973

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2102C>T; p.P701L; 16:31464840-31464840

 skinmalignant_melanomaSubstitution - Missense

c.2547G>A; p.L849L; 16:31466343-31466343

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1097G>A; p.R366Q; 16:31462359-31462359

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1285C>T; p.R429C; 16:31462547-31462547

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1223T>G; p.L408R; 16:31462485-31462485

 skinmalignant_melanomaSubstitution - Missense

c.2747C>T; p.P916L; 16:31466543-31466543

 skinmalignant_melanomaSubstitution - Missense

c.1686A>G; p.T562T; 16:31464424-31464424

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1285C>T; p.R429C; 16:31462547-31462547

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1686A>G; p.T562T; 16:31464424-31464424

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; desmoplasticSubstitution - coding silent

c.2346G>A; p.A782A; 16:31466142-31466142

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2346G>A; p.A782A; 16:31466142-31466142

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2346G>A; p.A782A; 16:31466142-31466142

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2846C>T; p.A949V; 16:31466642-31466642

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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