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

Basic Information

Gene ID

8633

Name

UNC5C

Synonymous

unc-5 homolog C (C. elegans);UNC5C;unc-5 homolog C (C. elegans)

Definition

netrin receptor UNC5C|protein unc-5 homolog 3|protein unc-5 homolog C|unc-5 homolog 3|unc5 (C.elegans homolog) c

Position

4q21-q23

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 0.07.

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.704C>A; p.A235E; 4:95250558-95250558

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.240C>G; p.N80K; 4:95335516-95335516

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1025C>T; p.A342V; 4:95242512-95242512

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1414G>A; p.D472N; 4:95219200-95219200

skinmalignant_melanomaSubstitution - Missense

c.1924G>A; p.E642K; 4:95202943-95202943

skinmalignant_melanomaSubstitution - Missense

c.1667C>T; p.A556V; 4:95216190-95216190

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.115G>A; p.A39T; 4:95548743-95548743

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1383C>A; p.D461E; 4:95219231-95219231

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1063C>A; p.L355I; 4:95242474-95242474

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.538T>A; p.L180M; 4:95278315-95278315

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2313T>A; p.S771R; 4:95183035-95183035

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.578G>C; p.G193A; 4:95278275-95278275

breastcarcinomaSubstitution - Missense

c.1695C>T; p.Y565Y; 4:95216162-95216162

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.764T>A; p.V255D; 4:95250498-95250498

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1949T>A; p.I650N; 4:95202918-95202918

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2003C>G; p.A668G; 4:95202864-95202864

skin; mucosalmalignant_melanomaSubstitution - Missense

c.1921G>T; p.E641*; 4:95202946-95202946

livercarcinomaSubstitution - Nonsense

c.2443G>A; p.V815M; 4:95182905-95182905

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1827G>T; p.M609I; 4:95206703-95206703

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2099G>A; p.R700Q; 4:95202768-95202768

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2099G>A; p.R700Q; 4:95202768-95202768

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2099G>A; p.R700Q; 4:95202768-95202768

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2099G>A; p.R700Q; 4:95202768-95202768

skin; extremitymalignant_melanomaSubstitution - Missense

c.2099G>A; p.R700Q; 4:95202768-95202768

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1748A>C; p.D583A; 4:95206782-95206782

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.380C>T; p.S127L; 4:95301716-95301716

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1569A>G; p.A523A; 4:95219045-95219045

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.380C>T; p.S127L; 4:95301716-95301716

skinmalignant_melanomaSubstitution - Missense

c.1066G>A; p.V356I; 4:95242471-95242471

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1066G>A; p.V356I; 4:95242471-95242471

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1038G>T; p.K346N; 4:95242499-95242499

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2544C>A; p.I848I; 4:95170240-95170240

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.357C>A; p.V119V; 4:95301739-95301739

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1065C>T; p.L355L; 4:95242472-95242472

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.2134_2136+1delAAGG; p.?; 4:95202730-95202733

livercarcinomaUnknown

c.2014C>A; p.H672N; 4:95202853-95202853

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2226C>A; p.R742R; 4:95185107-95185107

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1685G>A; p.G562E; 4:95216172-95216172

skinmalignant_melanomaSubstitution - Missense

c.1015G>A; p.E339K; 4:95242522-95242522

skinmalignant_melanomaSubstitution - Missense

c.102C>T; p.S34S; 4:95548756-95548756

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2511G>A; p.T837T; 4:95170273-95170273

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1165G>A; p.V389I; 4:95220120-95220120

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2545C>T; p.R849W; 4:95170239-95170239

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2384G>T; p.C795F; 4:95182964-95182964

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaSubstitution - Missense

c.2160G>A; p.Q720Q; 4:95185173-95185173

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1060G>A; p.G354S; 4:95242477-95242477

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1984G>A; p.E662K; 4:95202883-95202883

bone; femurchondrosarcomaSubstitution - Missense

c.2609C>T; p.A870V; 4:95170175-95170175

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1792G>A; p.G598R; 4:95206738-95206738

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1069T>C; p.L357L; 4:95242468-95242468

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.160C>T; p.P54S; 4:95335596-95335596

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2007G>T; p.L669L; 4:95202860-95202860

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1815C>T; p.V605V; 4:95206715-95206715

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2766G>T; p.V922V; 4:95169264-95169264

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1815C>T; p.V605V; 4:95206715-95206715

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1647A>T; p.G549G; 4:95216210-95216210

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.296G>T; p.W99L; 4:95335460-95335460

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1288G>A; p.A430T; 4:95219997-95219997

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1090G>T; p.D364Y; 4:95242447-95242447

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1524G>A; p.S508S; 4:95219090-95219090

skinmalignant_melanomaSubstitution - coding silent

c.2565C>A; p.S855R; 4:95170219-95170219

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1524G>A; p.S508S; 4:95219090-95219090

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.297G>A; p.W99*; 4:95335459-95335459

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1719G>A; p.R573R; 4:95216138-95216138

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1733G>T; p.R578M; 4:95216124-95216124

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.547G>A; p.E183K; 4:95278306-95278306

skinmalignant_melanomaSubstitution - Missense

c.2012G>A; p.G671E; 4:95202855-95202855

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.547G>A; p.E183K; 4:95278306-95278306

skin; mucosalmalignant_melanomaSubstitution - Missense

c.2339C>T; p.T780I; 4:95183009-95183009

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2212_2213insA; p.T738fs*23; 4:95185120-95185121

ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.912G>T; p.V304V; 4:95245008-95245008

upper_aerodigestive_tract; sinonasal_and_nasal_cavitycarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1345T>C; p.Y449H; 4:95219269-95219269

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2611C>A; p.H871N; 4:95170173-95170173

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2165G>A; p.G722E; 4:95185168-95185168

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1059C>T; p.D353D; 4:95242478-95242478

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.927T>C; p.C309C; 4:95244993-95244993

skinmalignant_melanomaSubstitution - coding silent

c.1070T>G; p.L357W; 4:95242467-95242467

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2671G>A; p.V891I; 4:95169359-95169359

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2013A>G; p.G671G; 4:95202854-95202854

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.974G>A; p.W325*; 4:95242563-95242563

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.130G>A; p.D44N; 4:95335626-95335626

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.630C>T; p.P210P; 4:95250632-95250632

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.637G>T; p.D213Y; 4:95250625-95250625

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2431C>T; p.L811F; 4:95182917-95182917

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.358C>T; p.R120W; 4:95301738-95301738

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.440G>A; p.W147*; 4:95301656-95301656

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1649T>C; p.V550A; 4:95216208-95216208

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2082G>A; p.S694S; 4:95202785-95202785

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.1036_1037insC; p.K346fs*19; 4:95242500-95242501

stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.884G>A; p.G295E; 4:95245036-95245036

livercarcinomaSubstitution - Missense

c.884G>A; p.G295E; 4:95245036-95245036

livercarcinomaSubstitution - Missense

c.396A>G; p.E132E; 4:95301700-95301700

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1071G>T; p.L357F; 4:95242466-95242466

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.563G>A; p.C188Y; 4:95278290-95278290

skinmalignant_melanomaSubstitution - Missense

c.2627A>G; p.D876G; 4:95170157-95170157

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1613C>T; p.S538L; 4:95219001-95219001

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1670G>A; p.G557E; 4:95216187-95216187

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.332T>C; p.V111A; 4:95335424-95335424

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2679G>A; p.L893L; 4:95169351-95169351

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1665C>G; p.P555P; 4:95216192-95216192

skinmalignant_melanomaSubstitution - coding silent

c.2475G>A; p.P825P; 4:95170309-95170309

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.37G>A; p.G13R; 4:95548821-95548821

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1556A>C; p.N519T; 4:95219058-95219058

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1556A>C; p.N519T; 4:95219058-95219058

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1556A>C; p.N519T; 4:95219058-95219058

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.901G>T; p.G301W; 4:95245019-95245019

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1033C>T; p.P345S; 4:95242504-95242504

skinmalignant_melanomaSubstitution - Missense

c.1918G>T; p.G640W; 4:95202949-95202949

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.382C>G; p.R128G; 4:95301714-95301714

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1733+2T>C; p.?; 4:95216122-95216122

large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.168T>C; p.D56D; 4:95335588-95335588

thyroidother; neoplasmSubstitution - coding silent

c.1778G>T; p.S593I; 4:95206752-95206752

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.508G>A; p.E170K; 4:95278345-95278345

skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.361G>A; p.E121K; 4:95301735-95301735

skinmalignant_melanomaSubstitution - Missense

c.1306C>A; p.L436M; 4:95219308-95219308

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.812T>C; p.V271A; 4:95245108-95245108

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2098C>T; p.R700*; 4:95202769-95202769

oesophaguscarcinomaSubstitution - Nonsense

c.1060G>C; p.G354R; 4:95242477-95242477

skinmalignant_melanomaSubstitution - Missense

c.337G>A; p.E113K; 4:95335419-95335419

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1838C>A; p.A613E; 4:95206692-95206692

livercarcinomaSubstitution - Missense

c.800C>T; p.T267M; 4:95245120-95245120

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1593C>T; p.T531T; 4:95219021-95219021

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1128T>C; p.D376D; 4:95220157-95220157

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1320A>T; p.P440P; 4:95219294-95219294

bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1517C>T; p.T506I; 4:95219097-95219097

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2029G>T; p.A677S; 4:95202838-95202838

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1548C>T; p.S516S; 4:95219066-95219066

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.345C>T; p.S115S; 4:95335411-95335411

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1340C>T; p.A447V; 4:95219274-95219274

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1091A>T; p.D364V; 4:95242446-95242446

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2138A>C; p.E713A; 4:95185195-95185195

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1388T>C; p.I463T; 4:95219226-95219226

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1428C>T; p.N476N; 4:95219186-95219186

livercarcinomaSubstitution - coding silent

c.1428C>T; p.N476N; 4:95219186-95219186

livercarcinomaSubstitution - coding silent

c.406G>C; p.G136R; 4:95301690-95301690

breastcarcinomaSubstitution - Missense

c.1400A>G; p.N467S; 4:95219214-95219214

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.530A>G; p.E177G; 4:95278323-95278323

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1477G>A; p.D493N; 4:95219137-95219137

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.592G>A; p.E198K; 4:95278261-95278261

urinary_tract; bladdercarcinomaSubstitution - Missense

c.592G>A; p.E198K; 4:95278261-95278261

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.592G>A; p.E198K; 4:95278261-95278261

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.279C>T; p.F93F; 4:95335477-95335477

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.85G>A; p.A29T; 4:95548773-95548773

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2030C>T; p.A677V; 4:95202837-95202837

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1573C>A; p.Q525K; 4:95219041-95219041

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.520C>T; p.L174L; 4:95278333-95278333

livercarcinomaSubstitution - coding silent

c.520C>T; p.L174L; 4:95278333-95278333

livercarcinomaSubstitution - coding silent

c.2324G>A; p.R775K; 4:95183024-95183024

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.572C>A; p.P191H; 4:95278281-95278281

pancreascarcinomaSubstitution - Missense

c.2399G>A; p.R800Q; 4:95182949-95182949

livercarcinomaSubstitution - Missense

c.2364G>A; p.L788L; 4:95182984-95182984

skinmalignant_melanomaSubstitution - coding silent

c.1768C>A; p.P590T; 4:95206762-95206762

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2650A>T; p.T884S; 4:95169380-95169380

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.518C>T; p.P173L; 4:95278335-95278335

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1952A>T; p.Q651L; 4:95202915-95202915

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1326C>A; p.L442L; 4:95219288-95219288

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.785G>T; p.G262V; 4:95245135-95245135

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1812A>C; p.P604P; 4:95206718-95206718

thyroidother; neoplasmSubstitution - coding silent

c.2168G>A; p.G723E; 4:95185165-95185165

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1666G>T; p.A556S; 4:95216191-95216191

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1594G>A; p.A532T; 4:95219020-95219020

pancreascarcinomaSubstitution - Missense

c.1594G>A; p.A532T; 4:95219020-95219020

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1816G>A; p.V606I; 4:95206714-95206714

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1816G>A; p.V606I; 4:95206714-95206714

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.552C>T; p.V184V; 4:95278301-95278301

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1664C>T; p.P555L; 4:95216193-95216193

skinmalignant_melanomaSubstitution - Missense

c.481C>T; p.R161C; 4:95301615-95301615

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2239G>A; p.D747N; 4:95185094-95185094

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1318C>T; p.P440S; 4:95219296-95219296

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1443G>T; p.V481V; 4:95219171-95219171

livercarcinomaSubstitution - coding silent

c.2239G>A; p.D747N; 4:95185094-95185094

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1518C>A; p.T506T; 4:95219096-95219096

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1329G>T; p.T443T; 4:95219285-95219285

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1518C>A; p.T506T; 4:95219096-95219096

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.780C>T; p.N260N; 4:95245140-95245140

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.1148T>A; p.I383N; 4:95220137-95220137

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1179C>T; p.I393I; 4:95220106-95220106

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.1179C>T; p.I393I; 4:95220106-95220106

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2089T>C; p.Y697H; 4:95202778-95202778

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2664A>G; p.P888P; 4:95169366-95169366

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2089T>C; p.Y697H; 4:95202778-95202778

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.291T>C; p.S97S; 4:95335465-95335465

thyroidother; neoplasmSubstitution - coding silent

c.2089T>C; p.Y697H; 4:95202778-95202778

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.291T>C; p.S97S; 4:95335465-95335465

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1219C>T; p.R407C; 4:95220066-95220066

breastcarcinomaSubstitution - Missense

c.1056C>T; p.C352C; 4:95242481-95242481

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.624T>C; p.I208I; 4:95250638-95250638

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1056C>T; p.C352C; 4:95242481-95242481

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1056C>T; p.C352C; 4:95242481-95242481

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1056C>T; p.C352C; 4:95242481-95242481

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1807C>A; p.R603S; 4:95206723-95206723

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2779G>A; p.A927T; 4:95169251-95169251

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2146C>T; p.H716Y; 4:95185187-95185187

livercarcinomaSubstitution - Missense

c.669C>T; p.N223N; 4:95250593-95250593

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.202C>G; p.P68A; 4:95335554-95335554

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.192C>T; p.F64F; 4:95335564-95335564

skinmalignant_melanomaSubstitution - coding silent

c.523G>A; p.G175R; 4:95278330-95278330

skinmalignant_melanomaSubstitution - Missense

c.908G>C; p.S303T; 4:95245012-95245012

breastcarcinomaSubstitution - Missense

c.2416G>A; p.G806R; 4:95182932-95182932

skinmalignant_melanomaSubstitution - Missense

c.532G>A; p.V178M; 4:95278321-95278321

livercarcinomaSubstitution - Missense

c.1837G>A; p.A613T; 4:95206693-95206693

pancreascarcinomaSubstitution - Missense

c.2508C>A; p.V836V; 4:95170276-95170276

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1837G>A; p.A613T; 4:95206693-95206693

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.532G>A; p.V178M; 4:95278321-95278321

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.320T>C; p.V107A; 4:95335436-95335436

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.727A>C; p.N243H; 4:95250535-95250535

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.942A>T; p.P314P; 4:95244978-95244978

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2643C>G; p.Y881*; 4:95169387-95169387

NSNSSubstitution - Nonsense

c.313C>T; p.H105Y; 4:95335443-95335443

skinmalignant_melanomaSubstitution - Missense

c.1976T>A; p.I659N; 4:95202891-95202891

livercarcinomaSubstitution - Missense

c.1976T>A; p.I659N; 4:95202891-95202891

livercarcinomaSubstitution - Missense

c.986G>A; p.G329E; 4:95242551-95242551

skinmalignant_melanomaSubstitution - Missense

c.1171C>G; p.L391V; 4:95220114-95220114

pancreascarcinoid-endocrine_tumour; islet_cellSubstitution - Missense

c.2721C>T; p.S907S; 4:95169309-95169309

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.986G>A; p.G329E; 4:95242551-95242551

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2515C>T; p.P839S; 4:95170269-95170269

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2125G>A; p.D709N; 4:95202742-95202742

skinmalignant_melanomaSubstitution - Missense

c.590C>A; p.A197D; 4:95278263-95278263

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2111T>C; p.L704P; 4:95202756-95202756

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2515C>T; p.P839S; 4:95170269-95170269

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.464G>A; p.S155N; 4:95301632-95301632

urinary_tract; bladdercarcinomaSubstitution - Missense

c.321A>C; p.V107V; 4:95335435-95335435

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2149C>A; p.L717I; 4:95185184-95185184

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1405C>T; p.P469S; 4:95219209-95219209

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.832C>T; p.R278*; 4:95245088-95245088

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.832C>T; p.R278*; 4:95245088-95245088

prostatecarcinomaSubstitution - Nonsense

c.832C>T; p.R278*; 4:95245088-95245088

pancreascarcinomaSubstitution - Nonsense

c.832C>T; p.R278*; 4:95245088-95245088

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.224A>T; p.K75M; 4:95335532-95335532

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1801C>T; p.L601F; 4:95206729-95206729

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.960G>A; p.T320T; 4:95242577-95242577

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1022C>T; p.T341M; 4:95242515-95242515

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1883C>T; p.A628V; 4:95206647-95206647

oesophaguscarcinomaSubstitution - Missense

c.1350A>C; p.R450S; 4:95219264-95219264

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.529G>A; p.E177K; 4:95278324-95278324

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1722A>T; p.K574N; 4:95216135-95216135

pancreascarcinomaSubstitution - Missense

c.1722A>T; p.K574N; 4:95216135-95216135

pancreascarcinomaSubstitution - Missense

c.2795A>G; p.*932*; 4:95169235-95169235

large_intestine; caecumadenomaSubstitution - coding silent

c.1400A>C; p.N467T; 4:95219214-95219214

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.809C>T; p.S270F; 4:95245111-95245111

skinmalignant_melanomaSubstitution - Missense

c.1303C>A; p.L435M; 4:95219311-95219311

oesophaguscarcinomaSubstitution - Missense

c.1587C>T; p.S529S; 4:95219027-95219027

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1587C>T; p.S529S; 4:95219027-95219027

skinmalignant_melanomaSubstitution - coding silent

c.1619G>A; p.G540E; 4:95218995-95218995

skinmalignant_melanomaSubstitution - Missense

c.2103C>A; p.V701V; 4:95202764-95202764

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1370A>G; p.H457R; 4:95219244-95219244

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.500A>C; p.K167T; 4:95278353-95278353

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.830G>T; p.G277V; 4:95245090-95245090

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1250C>T; p.S417L; 4:95220035-95220035

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1065C>A; p.L355L; 4:95242472-95242472

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2112G>C; p.L704L; 4:95202755-95202755

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1807C>T; p.R603C; 4:95206723-95206723

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1088C>T; p.T363I; 4:95242449-95242449

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1164C>T; p.I388I; 4:95220121-95220121

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1651A>G; p.S551G; 4:95216206-95216206

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.848G>A; p.R283H; 4:95245072-95245072

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1359C>A; p.V453V; 4:95219255-95219255

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.848G>A; p.R283H; 4:95245072-95245072

skinmalignant_melanomaSubstitution - Missense

c.1675A>G; p.I559V; 4:95216182-95216182

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1718G>A; p.R573K; 4:95216139-95216139

skinmalignant_melanomaSubstitution - Missense

c.2490G>A; p.A830A; 4:95170294-95170294

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.921A>G; p.I307M; 4:95244999-95244999

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1977C>A; p.I659I; 4:95202890-95202890

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2490G>A; p.A830A; 4:95170294-95170294

skinmalignant_melanomaSubstitution - coding silent

c.640C>T; p.R214W; 4:95250622-95250622

skinmalignant_melanomaSubstitution - Missense

c.1445A>G; p.Y482C; 4:95219169-95219169

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2117A>T; p.D706V; 4:95202750-95202750

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.748A>G; p.S250G; 4:95250514-95250514

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.369C>T; p.S123S; 4:95301727-95301727

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2003C>T; p.A668V; 4:95202864-95202864

skinmalignant_melanomaSubstitution - Missense

c.2042G>A; p.R681H; 4:95202825-95202825

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2042G>A; p.R681H; 4:95202825-95202825

breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.2003C>T; p.A668V; 4:95202864-95202864

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.467G>A; p.R156Q; 4:95301629-95301629

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1582C>A; p.P528T; 4:95219032-95219032

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2287G>A; p.E763K; 4:95183061-95183061

skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.583C>T; p.P195S; 4:95278270-95278270

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2044C>T; p.L682F; 4:95202823-95202823

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1427A>G; p.N476S; 4:95219187-95219187

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.117C>T; p.A39A; 4:95548741-95548741

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.558C>T; p.L186L; 4:95278295-95278295

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1683A>T; p.Q561H; 4:95216174-95216174

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.1471delC; p.Q491fs*15; 4:95219143-95219143

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1429C>T; p.L477L; 4:95219185-95219185

livercarcinomaSubstitution - coding silent

c.1429C>T; p.L477L; 4:95219185-95219185

livercarcinomaSubstitution - coding silent

c.2197C>A; p.H733N; 4:95185136-95185136

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1262G>T; p.G421V; 4:95220023-95220023

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1205A>T; p.Y402F; 4:95220080-95220080

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2485C>T; p.P829S; 4:95170299-95170299

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2396T>C; p.V799A; 4:95182952-95182952

oesophaguscarcinomaSubstitution - Missense

c.1665C>T; p.P555P; 4:95216192-95216192

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1470C>A; p.P490P; 4:95219144-95219144

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.473C>T; p.A158V; 4:95301623-95301623

central_nervous_system; braingliomaSubstitution - Missense

c.1919G>A; p.G640E; 4:95202948-95202948

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2101G>A; p.V701I; 4:95202766-95202766

breastcarcinomaSubstitution - Missense


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