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

Basic Information

Gene ID

4920

Name

ROR2

Synonymous

receptor tyrosine kinase-like orphan receptor 2;ROR2;receptor tyrosine kinase-like orphan receptor 2

Definition

neurotrophic tyrosine kinase receptor-related 2|tyrosine-protein kinase transmembrane receptor ROR2

Position

9q22

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 0.06.

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.356G>A; p.R119Q; 9:91757379-91757379

skinmalignant_melanomaSubstitution - Missense

c.1735G>A; p.D579N; 9:91724759-91724759

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.947G>A; p.C316Y; 9:91731146-91731146

skinmalignant_melanomaSubstitution - Missense

c.1814A>C; p.Y605S; 9:91724680-91724680

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1436T>C; p.L479P; 9:91725058-91725058

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.947G>A; p.C316Y; 9:91731146-91731146

skinmalignant_melanomaSubstitution - Missense

c.1814A>C; p.Y605S; 9:91724680-91724680

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1556A>G; p.E519G; 9:91724938-91724938

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2029T>C; p.S677P; 9:91724465-91724465

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1155C>G; p.R385R; 9:91730938-91730938

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1797C>T; p.I599I; 9:91724697-91724697

skinmalignant_melanomaSubstitution - coding silent

c.995A>T; p.K332M; 9:91731098-91731098

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1843G>A; p.D615N; 9:91724651-91724651

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1843G>A; p.D615N; 9:91724651-91724651

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.322C>T; p.R108W; 9:91757413-91757413

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.555C>T; p.F185F; 9:91737458-91737458

skinmalignant_melanomaSubstitution - coding silent

c.2770G>A; p.E924K; 9:91723724-91723724

breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.1048C>A; p.L350M; 9:91731045-91731045

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1949G>T; p.G650V; 9:91724545-91724545

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2321G>A; p.S774N; 9:91724173-91724173

livercarcinomaSubstitution - Missense

c.799G>A; p.E267K; 9:91733260-91733260

skinmalignant_melanomaSubstitution - Missense

c.799G>A; p.E267K; 9:91733260-91733260

central_nervous_system; braingliomaSubstitution - Missense

c.1095C>G; p.C365W; 9:91730998-91730998

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.233C>T; p.T78M; 9:91757502-91757502

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1920G>A; p.V640V; 9:91724574-91724574

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1707G>A; p.S569S; 9:91724787-91724787

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1450T>A; p.F484I; 9:91725044-91725044

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1177T>A; p.S393T; 9:91730916-91730916

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1244C>T; p.P415L; 9:91726683-91726683

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2680G>A; p.A894T; 9:91723814-91723814

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1739A>G; p.D580G; 9:91724755-91724755

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1137G>A; p.T379T; 9:91730956-91730956

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2367C>A; p.P789P; 9:91724127-91724127

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.651G>A; p.T217T; 9:91733408-91733408

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1416G>A; p.A472A; 9:91725078-91725078

skinmalignant_melanomaSubstitution - coding silent

c.2117G>A; p.R706Q; 9:91724377-91724377

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2155G>A; p.A719T; 9:91724339-91724339

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.137C>T; p.P46L; 9:91775779-91775779

skin; upper_legmalignant_melanomaSubstitution - Missense

c.2395C>T; p.P799S; 9:91724099-91724099

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.151G>A; p.D51N; 9:91775765-91775765

ovaryother; neoplasmSubstitution - Missense

c.2482C>A; p.P828T; 9:91724012-91724012

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2395C>T; p.P799S; 9:91724099-91724099

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2442G>A; p.P814P; 9:91724052-91724052

pancreascarcinomaSubstitution - coding silent

c.1153C>T; p.R385C; 9:91730940-91730940

large_intestineadenomaSubstitution - Missense

c.1821C>T; p.S607S; 9:91724673-91724673

skinmalignant_melanomaSubstitution - coding silent

c.671C>T; p.S224L; 9:91733388-91733388

breastcarcinomaSubstitution - Missense

c.671C>T; p.S224L; 9:91733388-91733388

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.824C>T; p.P275L; 9:91733235-91733235

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1885G>A; p.V629M; 9:91724609-91724609

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.569C>T; p.T190I; 9:91737444-91737444

skinmalignant_melanomaSubstitution - Missense

c.2003A>C; p.K668T; 9:91724491-91724491

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.526C>A; p.P176T; 9:91737487-91737487

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1964C>T; p.P655L; 9:91724530-91724530

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.761A>G; p.D254G; 9:91733298-91733298

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1571A>C; p.E524A; 9:91724923-91724923

kidneyother; neoplasmSubstitution - Missense

c.2304G>A; p.T768T; 9:91724190-91724190

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1523C>T; p.T508M; 9:91724971-91724971

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2203C>T; p.R735W; 9:91724291-91724291

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2203C>T; p.R735W; 9:91724291-91724291

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2388C>T; p.F796F; 9:91724106-91724106

skinmalignant_melanomaSubstitution - coding silent

c.482A>T; p.N161I; 9:91756083-91756083

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.508G>A; p.E170K; 9:91737505-91737505

skinmalignant_melanomaSubstitution - Missense

c.1639C>A; p.Q547K; 9:91724855-91724855

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.743C>T; p.P248L; 9:91733316-91733316

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.295G>A; p.D99N; 9:91757440-91757440

skinmalignant_melanomaSubstitution - Missense

c.2357A>G; p.Y786C; 9:91724137-91724137

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1448G>A; p.R483Q; 9:91725046-91725046

breastcarcinomaSubstitution - Missense

c.2183G>C; p.C728S; 9:91724311-91724311

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.548C>T; p.A183V; 9:91737465-91737465

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.417C>A; p.N139K; 9:91757318-91757318

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1538C>A; p.A513E; 9:91724956-91724956

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1101C>T; p.N367N; 9:91730992-91730992

skinmalignant_melanomaSubstitution - coding silent

c.1623C>T; p.G541G; 9:91724871-91724871

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.339G>A; p.K113K; 9:91757396-91757396

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.982G>A; p.A328T; 9:91731111-91731111

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1623C>T; p.G541G; 9:91724871-91724871

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.763G>A; p.E255K; 9:91733296-91733296

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2134C>T; p.P712S; 9:91724360-91724360

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1842G>A; p.K614K; 9:91724652-91724652

skinmalignant_melanomaSubstitution - coding silent

c.1738G>T; p.D580Y; 9:91724756-91724756

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2134C>T; p.P712S; 9:91724360-91724360

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2725G>A; p.V909M; 9:91723769-91723769

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1399G>A; p.E467K; 9:91725095-91725095

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.317C>T; p.P106L; 9:91757418-91757418

stomachcarcinomaSubstitution - Missense

c.1545G>T; p.G515G; 9:91724949-91724949

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.323G>A; p.R108Q; 9:91757412-91757412

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1331T>C; p.L444P; 9:91726596-91726596

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.838C>T; p.R280W; 9:91733221-91733221

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1027C>A; p.Q343K; 9:91731066-91731066

autonomic_ganglianeuroblastomaSubstitution - Missense

c.2453A>T; p.Y818F; 9:91724041-91724041

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.838C>T; p.R280W; 9:91733221-91733221

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1300G>A; p.A434T; 9:91726627-91726627

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2567T>C; p.V856A; 9:91723927-91723927

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.574T>C; p.Y192H; 9:91737439-91737439

skin; shouldermalignant_melanomaSubstitution - Missense

c.323G>T; p.R108L; 9:91757412-91757412

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.303G>A; p.P101P; 9:91757432-91757432

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2064C>T; p.Y688Y; 9:91724430-91724430

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.823C>T; p.P275S; 9:91733236-91733236

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1614C>T; p.C538C; 9:91724880-91724880

livercarcinomaSubstitution - coding silent

c.457C>T; p.R153W; 9:91757278-91757278

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1687G>A; p.E563K; 9:91724807-91724807

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.457C>T; p.R153W; 9:91757278-91757278

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2068C>A; p.L690M; 9:91724426-91724426

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.534G>A; p.R178R; 9:91737479-91737479

skinmalignant_melanomaSubstitution - coding silent

c.2091C>T; p.S697S; 9:91724403-91724403

skinmalignant_melanomaSubstitution - coding silent

c.2644T>G; p.S882A; 9:91723850-91723850

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2377G>T; p.A793S; 9:91724117-91724117

skin; armmalignant_melanomaSubstitution - Missense

c.1624G>A; p.V542M; 9:91724870-91724870

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1624G>A; p.V542M; 9:91724870-91724870

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2408C>T; p.P803L; 9:91724086-91724086

skinmalignant_melanomaSubstitution - Missense

c.2315C>T; p.S772F; 9:91724179-91724179

skinmalignant_melanomaSubstitution - Missense

c.2577C>T; p.P859P; 9:91723917-91723917

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1588C>T; p.R530W; 9:91724906-91724906

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1588C>T; p.R530W; 9:91724906-91724906

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2766G>T; p.E922D; 9:91723728-91723728

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1330C>A; p.L444M; 9:91726597-91726597

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1670C>T; p.S557L; 9:91724824-91724824

skinmalignant_melanomaSubstitution - Missense

c.2018C>G; p.S673*; 9:91724476-91724476

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.98-1G>T; p.?; 9:91775819-91775819

stomachcarcinoma; adenocarcinomaUnknown

c.1670C>T; p.S557L; 9:91724824-91724824

skin; abdomenmalignant_melanomaSubstitution - Missense

c.1969C>T; p.R657C; 9:91724525-91724525

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1254C>T; p.I418I; 9:91726673-91726673

skinmalignant_melanomaSubstitution - coding silent

c.1969C>T; p.R657C; 9:91724525-91724525

central_nervous_system; braingliomaSubstitution - Missense

c.2327G>A; p.S776N; 9:91724167-91724167

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1800G>C; p.A600A; 9:91724694-91724694

bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2678G>A; p.G893D; 9:91723816-91723816

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2250C>T; p.G750G; 9:91724244-91724244

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2335A>G; p.S779G; 9:91724159-91724159

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2632C>T; p.P878S; 9:91723862-91723862

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.158C>A; p.P53Q; 9:91775758-91775758

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.158C>A; p.P53Q; 9:91775758-91775758

livercarcinomaSubstitution - Missense

c.1172T>C; p.V391A; 9:91730921-91730921

skin; backmalignant_melanomaSubstitution - Missense

c.1999G>A; p.G667S; 9:91724495-91724495

large_intestine; colonadenomaSubstitution - Missense

c.1890G>T; p.K630N; 9:91724604-91724604

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.663C>T; p.D221D; 9:91733396-91733396

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1625T>C; p.V542A; 9:91724869-91724869

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2622C>T; p.V874V; 9:91723872-91723872

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1625T>C; p.V542A; 9:91724869-91724869

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1228C>T; p.P410S; 9:91726699-91726699

skinmalignant_melanomaSubstitution - Missense

c.2413A>G; p.K805E; 9:91724081-91724081

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1082G>C; p.G361A; 9:91731011-91731011

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1659C>T; p.F553F; 9:91724835-91724835

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1105G>A; p.G369R; 9:91730988-91730988

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2172C>T; p.L724L; 9:91724322-91724322

breastcarcinomaSubstitution - coding silent

c.815G>A; p.R272H; 9:91733244-91733244

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2249G>A; p.G750D; 9:91724245-91724245

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2249G>A; p.G750D; 9:91724245-91724245

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.169C>T; p.L57L; 9:91775747-91775747

skinmalignant_melanomaSubstitution - coding silent

c.815G>A; p.R272H; 9:91733244-91733244

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1820C>T; p.S607F; 9:91724674-91724674

skinmalignant_melanomaSubstitution - Missense

c.1101C>A; p.N367K; 9:91730992-91730992

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1758C>T; p.A586A; 9:91724736-91724736

skinmalignant_melanomaSubstitution - coding silent

c.1149C>T; p.N383N; 9:91730944-91730944

pancreascarcinomaSubstitution - coding silent

c.1149C>T; p.N383N; 9:91730944-91730944

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1873G>A; p.D625N; 9:91724621-91724621

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.231G>T; p.Q77H; 9:91757504-91757504

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2710G>T; p.G904W; 9:91723784-91723784

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1023C>T; p.A341A; 9:91731070-91731070

skinmalignant_melanomaSubstitution - coding silent

c.1010G>A; p.C337Y; 9:91731083-91731083

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.628T>C; p.F210L; 9:91733431-91733431

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.350G>A; p.G117D; 9:91757385-91757385

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.733A>G; p.T245A; 9:91733326-91733326

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.733A>G; p.T245A; 9:91733326-91733326

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.733A>G; p.T245A; 9:91733326-91733326

thyroidother; neoplasmSubstitution - Missense

c.2778G>A; p.L926L; 9:91723716-91723716

skinmalignant_melanomaSubstitution - coding silent

c.153C>A; p.D51E; 9:91775763-91775763

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1547C>T; p.P516L; 9:91724947-91724947

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2221G>A; p.D741N; 9:91724273-91724273

skinmalignant_melanomaSubstitution - Missense

c.153C>A; p.D51E; 9:91775763-91775763

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1741C>G; p.R581G; 9:91724753-91724753

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1764G>A; p.E588E; 9:91724730-91724730

skinmalignant_melanomaSubstitution - coding silent

c.2517G>T; p.P839P; 9:91723977-91723977

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1692C>T; p.F564F; 9:91724802-91724802

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1971C>T; p.R657R; 9:91724523-91724523

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1860T>C; p.N620N; 9:91724634-91724634

bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1855C>T; p.R619C; 9:91724639-91724639

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1247T>A; p.L416Q; 9:91726680-91726680

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1321C>T; p.R441W; 9:91726606-91726606

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1747G>A; p.V583M; 9:91724747-91724747

skinmalignant_melanomaSubstitution - Missense

c.2124G>A; p.R708R; 9:91724370-91724370

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1855C>T; p.R619C; 9:91724639-91724639

large_intestineadenomaSubstitution - Missense

c.1256C>T; p.A419V; 9:91726671-91726671

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1991T>C; p.I664T; 9:91724503-91724503

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2634delC; p.S879fs*>65; 9:91723860-91723860

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.821A>G; p.N274S; 9:91733238-91733238

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1538C>T; p.A513V; 9:91724956-91724956

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.488A>C; p.N163T; 9:91756077-91756077

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2724C>A; p.T908T; 9:91723770-91723770

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2516C>T; p.P839L; 9:91723978-91723978

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2516C>T; p.P839L; 9:91723978-91723978

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1417G>T; p.V473L; 9:91725077-91725077

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.2516C>T; p.P839L; 9:91723978-91723978

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2014G>A; p.D672N; 9:91724480-91724480

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2014G>A; p.D672N; 9:91724480-91724480

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2173A>G; p.M725V; 9:91724321-91724321

prostatecarcinomaSubstitution - Missense

c.1553G>A; p.R518Q; 9:91724941-91724941

breastcarcinomaSubstitution - Missense

c.1015C>T; p.P339S; 9:91731078-91731078

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1015C>T; p.P339S; 9:91731078-91731078

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1942C>A; p.L648M; 9:91724552-91724552

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.2197C>T; p.P733S; 9:91724297-91724297

skinmalignant_melanomaSubstitution - Missense

c.2672C>T; p.S891L; 9:91723822-91723822

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.436G>A; p.A146T; 9:91757299-91757299

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.722C>A; p.A241E; 9:91733337-91733337

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1479C>A; p.F493L; 9:91725015-91725015

breastcarcinomaSubstitution - Missense

c.1178C>T; p.S393L; 9:91730915-91730915

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2517G>C; p.P839P; 9:91723977-91723977

prostatecarcinomaSubstitution - coding silent

c.1178C>T; p.S393L; 9:91730915-91730915

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.977G>T; p.G326V; 9:91731116-91731116

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977G>T; p.G326V; 9:91731116-91731116

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2698G>A; p.A900T; 9:91723796-91723796

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1709C>T; p.P570L; 9:91724785-91724785

prostatecarcinomaSubstitution - Missense

c.1770C>A; p.P590P; 9:91724724-91724724

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1041_1042CC>AG; p.S347>?; 9:91731051-91731052

large_intestine; caecumcarcinoma; adenocarcinomaComplex

c.2122C>A; p.R708R; 9:91724372-91724372

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1716G>A; p.S572S; 9:91724778-91724778

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1480G>A; p.G494S; 9:91725014-91725014

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1480G>A; p.G494S; 9:91725014-91725014

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.520T>A; p.C174S; 9:91737493-91737493

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2680G>T; p.A894S; 9:91723814-91723814

pancreascarcinomaSubstitution - Missense

c.2204G>A; p.R735Q; 9:91724290-91724290

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.157C>T; p.P53S; 9:91775759-91775759

skinmalignant_melanomaSubstitution - Missense

c.1415C>T; p.A472V; 9:91725079-91725079

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.814C>T; p.R272C; 9:91733245-91733245

pancreascarcinomaSubstitution - Missense

c.814C>T; p.R272C; 9:91733245-91733245

pancreascarcinomaSubstitution - Missense

c.1486G>T; p.A496S; 9:91725008-91725008

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2036G>A; p.G679D; 9:91724458-91724458

pancreascarcinomaSubstitution - Missense

c.2036G>A; p.G679D; 9:91724458-91724458

pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.2349C>T; p.N783N; 9:91724145-91724145

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.814C>T; p.R272C; 9:91733245-91733245

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.2191G>A; p.E731K; 9:91724303-91724303

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2191G>A; p.E731K; 9:91724303-91724303

skinmalignant_melanomaSubstitution - Missense

c.1372A>G; p.N458D; 9:91726555-91726555

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2382G>A; p.P794P; 9:91724112-91724112

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.108G>A; p.E36E; 9:91775808-91775808

skinmalignant_melanomaSubstitution - coding silent

c.1872C>T; p.Y624Y; 9:91724622-91724622

skinmalignant_melanomaSubstitution - coding silent

c.1171G>A; p.V391I; 9:91730922-91730922

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1310C>A; p.S437Y; 9:91726617-91726617

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2433G>A; p.M811I; 9:91724061-91724061

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2539G>A; p.A847T; 9:91723955-91723955

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.298G>A; p.A100T; 9:91757437-91757437

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1745C>T; p.T582M; 9:91724749-91724749

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1700T>C; p.M567T; 9:91724794-91724794

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1547C>A; p.P516H; 9:91724947-91724947

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1776C>T; p.F592F; 9:91724718-91724718

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1776C>T; p.F592F; 9:91724718-91724718

skinmalignant_melanomaSubstitution - coding silent

c.744G>A; p.P248P; 9:91733315-91733315

breastcarcinomaSubstitution - coding silent

c.2065G>A; p.G689S; 9:91724429-91724429

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1167T>G; p.C389W; 9:91730926-91730926

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1546C>A; p.P516T; 9:91724948-91724948

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.762C>T; p.D254D; 9:91733297-91733297

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.762C>T; p.D254D; 9:91733297-91733297

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1359A>G; p.E453E; 9:91726568-91726568

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.405C>A; p.C135*; 9:91757330-91757330

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2343G>A; p.V781V; 9:91724151-91724151

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.935G>T; p.R312L; 9:91733124-91733124

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1391A>T; p.K464I; 9:91725103-91725103

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1255G>A; p.A419T; 9:91726672-91726672

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1635G>T; p.K545N; 9:91724859-91724859

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2088C>T; p.Y696Y; 9:91724406-91724406

thyroidother; neoplasmSubstitution - coding silent

c.2088C>T; p.Y696Y; 9:91724406-91724406

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1286G>A; p.R429Q; 9:91726641-91726641

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1357G>A; p.E453K; 9:91726570-91726570

skinmalignant_melanomaSubstitution - Missense

c.685C>T; p.P229S; 9:91733374-91733374

skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.2748_2750delGGA; p.E917delE; 9:91723744-91723746

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.2156C>T; p.A719V; 9:91724338-91724338

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2748_2750delGGA; p.E917delE; 9:91723744-91723746

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1992C>T; p.I664I; 9:91724502-91724502

skinmalignant_melanomaSubstitution - coding silent

c.2376G>A; p.K792K; 9:91724118-91724118

bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.298G>T; p.A100S; 9:91757437-91757437

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2694G>A; p.Q898Q; 9:91723800-91723800

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2694G>A; p.Q898Q; 9:91723800-91723800

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2387T>C; p.F796S; 9:91724107-91724107

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1975A>G; p.M659V; 9:91724519-91724519

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1373A>G; p.N458S; 9:91726554-91726554

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.599G>A; p.G200E; 9:91737414-91737414

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.405C>T; p.C135C; 9:91757330-91757330

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2466C>T; p.N822N; 9:91724028-91724028

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.320G>A; p.R107Q; 9:91757415-91757415

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.154G>A; p.G52S; 9:91775762-91775762

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1608C>T; p.V536V; 9:91724886-91724886

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1179G>A; p.S393S; 9:91730914-91730914

pancreascarcinomaSubstitution - coding silent

c.1179G>A; p.S393S; 9:91730914-91730914

livercarcinomaSubstitution - coding silent

c.1179G>A; p.S393S; 9:91730914-91730914

livercarcinomaSubstitution - coding silent

c.1179G>A; p.S393S; 9:91730914-91730914

skinmalignant_melanomaSubstitution - coding silent

c.2362G>T; p.G788W; 9:91724132-91724132

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.639C>T; p.I213I; 9:91733420-91733420

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1539G>T; p.A513A; 9:91724955-91724955

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1495delG; p.E499fs*11; 9:91724999-91724999

NSmalignant_melanomaDeletion - Frameshift

c.1949G>A; p.G650E; 9:91724545-91724545

skinmalignant_melanomaSubstitution - Missense

c.1514C>T; p.A505V; 9:91724980-91724980

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1934A>G; p.Y645C; 9:91724560-91724560

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1116G>T; p.M372I; 9:91730977-91730977

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1103C>A; p.P368H; 9:91730990-91730990

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.661G>T; p.D221Y; 9:91733398-91733398

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.434delC; p.A146fs*67; 9:91757301-91757301

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.2351C>T; p.A784V; 9:91724143-91724143

skinmalignant_melanomaSubstitution - Missense

c.2170C>T; p.L724F; 9:91724324-91724324

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2633C>T; p.P878L; 9:91723861-91723861

skinmalignant_melanomaSubstitution - Missense

c.263A>G; p.N88S; 9:91757472-91757472

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1225G>T; p.V409F; 9:91726702-91726702

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.980C>T; p.T327M; 9:91731113-91731113

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1207G>T; p.G403W; 9:91726720-91726720

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.980C>T; p.T327M; 9:91731113-91731113

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.265C>A; p.P89T; 9:91757470-91757470

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.362G>A; p.R121Q; 9:91757373-91757373

skinmalignant_melanomaSubstitution - Missense

c.362G>A; p.R121Q; 9:91757373-91757373

skinmalignant_melanomaSubstitution - Missense

c.2474_2475insC; p.Q825fs*71; 9:91724019-91724020

central_nervous_system; brainglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.533G>A; p.R178Q; 9:91737480-91737480

skinmalignant_melanomaSubstitution - Missense

c.533G>A; p.R178Q; 9:91737480-91737480

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1017G>A; p.P339P; 9:91731076-91731076

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1387G>A; p.A463T; 9:91725107-91725107

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.905G>A; p.R302H; 9:91733154-91733154

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.538A>G; p.I180V; 9:91737475-91737475

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2603C>T; p.S868F; 9:91723891-91723891

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.905G>A; p.R302H; 9:91733154-91733154

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2153C>T; p.P718L; 9:91724341-91724341

skinmalignant_melanomaSubstitution - Missense

c.2186G>A; p.W729*; 9:91724308-91724308

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2674G>C; p.E892Q; 9:91723820-91723820

breastcarcinomaSubstitution - Missense

c.1078_1079GG>AT; p.G360M; 9:91731014-91731015

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.622+1G>A; p.?; 9:91737390-91737390

livercarcinoma; hepatocellular_carcinomaUnknown

c.1830C>T; p.H610H; 9:91724664-91724664

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1069G>T; p.E357*; 9:91731024-91731024

lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.1069G>T; p.E357*; 9:91731024-91731024

lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.1069G>T; p.E357*; 9:91731024-91731024

lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.2213G>A; p.R738H; 9:91724281-91724281

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1402A>T; p.I468F; 9:91725092-91725092

skin; mucosalmalignant_melanomaSubstitution - Missense


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