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

Basic Information

Gene ID

121227

Name

LRIG3

Synonymous

leucine-rich repeats and immunoglobulin-like domains 3;LRIG3;leucine-rich repeats and immunoglobulin-like domains 3

Definition

LIG-3|leucine-rich repeats and immunoglobulin-like domains protein 3

Position

12q14.1

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.12.

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.2177C>G; p.P726R; 12:58877759-58877759

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.3117T>C; p.G1039G; 12:58872815-58872815

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1632T>C; p.A544A; 12:58880750-58880750

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1671C>T; p.G557G; 12:58880711-58880711

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2944G>A; p.E982K; 12:58874226-58874226

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2944G>A; p.E982K; 12:58874226-58874226

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2944G>A; p.E982K; 12:58874226-58874226

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2155A>G; p.I719V; 12:58877781-58877781

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.914A>G; p.D305G; 12:58888362-58888362

 livercarcinomaSubstitution - Missense

c.2570A>G; p.Y857C; 12:58876570-58876570

 livercarcinomaSubstitution - Missense

c.2570A>G; p.Y857C; 12:58876570-58876570

 livercarcinomaSubstitution - Missense

c.2550G>C; p.L850F; 12:58876590-58876590

 thyroidother; neoplasmSubstitution - Missense

c.1693A>T; p.I565F; 12:58880689-58880689

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.755C>T; p.T252M; 12:58888867-58888867

 pancreascarcinomaSubstitution - Missense

c.2229_2230insT; p.A746fs*16; 12:58877706-58877707

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaInsertion - Frameshift

c.2084-1G>A; p.?; 12:58877853-58877853

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.2099delT; p.L700fs*9; 12:58877837-58877837

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.113C>T; p.P38L; 12:58920123-58920123

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.936G>C; p.K312N; 12:58888340-58888340

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.607C>T; p.R203*; 12:58890048-58890048

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3294T>C; p.C1098C; 12:58872638-58872638

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.760C>A; p.L254I; 12:58888862-58888862

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.2198A>G; p.D733G; 12:58877738-58877738

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2649C>T; p.V883V; 12:58876491-58876491

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.361G>A; p.A121T; 12:58914004-58914004

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1524G>A; p.Q508Q; 12:58880858-58880858

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2451C>A; p.C817*; 12:58877485-58877485

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1825C>T; p.P609S; 12:58879082-58879082

 skinmalignant_melanomaSubstitution - Missense

c.2221G>T; p.E741*; 12:58877715-58877715

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1706G>A; p.R569H; 12:58880676-58880676

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2656T>C; p.S886P; 12:58876484-58876484

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2017G>T; p.V673L; 12:58878890-58878890

 skinmalignant_melanomaSubstitution - Missense

c.1710G>T; p.E570D; 12:58880672-58880672

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.798A>C; p.E266D; 12:58888824-58888824

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2988G>T; p.K996N; 12:58874182-58874182

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2223G>T; p.E741D; 12:58877713-58877713

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.307G>A; p.V103M; 12:58914266-58914266

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.935A>C; p.K312T; 12:58888341-58888341

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.582C>T; p.L194L; 12:58890073-58890073

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1173-7delT; p.?; 12:58885909-58885909

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1326T>G; p.N442K; 12:58883023-58883023

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1103A>T; p.N368I; 12:58886879-58886879

 livercarcinomaSubstitution - Missense

c.2223G>A; p.E741E; 12:58877713-58877713

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1086G>T; p.K362N; 12:58887794-58887794

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1672G>A; p.E558K; 12:58880710-58880710

 breastcarcinomaSubstitution - Missense

c.2638C>A; p.H880N; 12:58876502-58876502

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.2638C>A; p.H880N; 12:58876502-58876502

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1363C>A; p.L455I; 12:58882986-58882986

 livercarcinomaSubstitution - Missense

c.81A>C; p.S27S; 12:58920155-58920155

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3115+2T>C; p.?; 12:58874053-58874053

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableUnknown

c.1363C>A; p.L455I; 12:58882986-58882986

 livercarcinomaSubstitution - Missense

c.2376C>T; p.S792S; 12:58877560-58877560

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1365C>A; p.L455L; 12:58882984-58882984

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3151G>A; p.D1051N; 12:58872781-58872781

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3151G>A; p.D1051N; 12:58872781-58872781

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2554G>T; p.A852S; 12:58876586-58876586

 thyroidother; neoplasmSubstitution - Missense

c.2512G>T; p.E838*; 12:58877424-58877424

 breastcarcinomaSubstitution - Nonsense

c.378C>G; p.L126L; 12:58913987-58913987

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1333A>C; p.S445R; 12:58883016-58883016

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1115C>T; p.S372F; 12:58886867-58886867

 skinmalignant_melanomaSubstitution - Missense

c.2783C>T; p.P928L; 12:58874486-58874486

 skin; backmalignant_melanomaSubstitution - Missense

c.2552C>G; p.P851R; 12:58876588-58876588

 thyroidother; neoplasmSubstitution - Missense

c.3351G>A; p.L1117L; 12:58872581-58872581

 skinmalignant_melanomaSubstitution - coding silent

c.1952G>A; p.R651H; 12:58878955-58878955

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3329C>T; p.P1110L; 12:58872603-58872603

 skinmalignant_melanomaSubstitution - Missense

c.1505C>T; p.T502M; 12:58880877-58880877

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1197T>A; p.R399R; 12:58885878-58885878

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1040T>G; p.V347G; 12:58887840-58887840

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1197T>A; p.R399R; 12:58885878-58885878

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1419C>A; p.A473A; 12:58882930-58882930

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.756G>A; p.T252T; 12:58888866-58888866

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2841T>C; p.G947G; 12:58874329-58874329

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.384-5_389delTCTAGGGCTGG; p.?; 12:58890791-58890801

 stomachcarcinoma; intestinal_adenocarcinomaUnknown

c.2526T>C; p.I842I; 12:58877410-58877410

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.630G>C; p.K210N; 12:58890025-58890025

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1875T>G; p.A625A; 12:58879032-58879032

 central_nervous_system; braingliomaSubstitution - coding silent

c.238G>A; p.D80N; 12:58914335-58914335

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3144T>G; p.P1048P; 12:58872788-58872788

 livercarcinomaSubstitution - coding silent

c.3144T>G; p.P1048P; 12:58872788-58872788

 livercarcinomaSubstitution - coding silent

c.2348G>T; p.S783I; 12:58877588-58877588

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1527G>A; p.S509S; 12:58880855-58880855

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3152A>C; p.D1051A; 12:58872780-58872780

 pancreascarcinomaSubstitution - Missense

c.2762C>T; p.P921L; 12:58874507-58874507

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.711C>T; p.G237G; 12:58888911-58888911

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2762C>T; p.P921L; 12:58874507-58874507

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.2404G>A; p.D802N; 12:58877532-58877532

 skinmalignant_melanomaSubstitution - Missense

c.1429C>T; p.L477L; 12:58882920-58882920

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3151_3152insG; p.D1051fs*51; 12:58872780-58872781

 oesophaguscarcinoma; adenocarcinomaInsertion - Frameshift

c.1721C>T; p.A574V; 12:58880661-58880661

 prostatecarcinomaSubstitution - Missense

c.1065C>T; p.F355F; 12:58887815-58887815

 skin; nipplemalignant_melanomaSubstitution - coding silent

c.2337C>T; p.N779N; 12:58877599-58877599

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1063T>A; p.F355I; 12:58887817-58887817

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.359C>T; p.S120L; 12:58914006-58914006

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3158A>G; p.Y1053C; 12:58872774-58872774

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1375delG; p.V459fs*10; 12:58882974-58882974

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.831G>T; p.E277D; 12:58888445-58888445

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.367A>G; p.I123V; 12:58913998-58913998

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2304G>T; p.E768D; 12:58877632-58877632

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2341C>T; p.R781C; 12:58877595-58877595

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2537A>G; p.D846G; 12:58876603-58876603

 skinmalignant_melanomaSubstitution - Missense

c.1915G>C; p.D639H; 12:58878992-58878992

 pancreascarcinomaSubstitution - Missense

c.2785A>C; p.M929L; 12:58874484-58874484

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2218A>C; p.T740P; 12:58877718-58877718

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.3277G>T; p.E1093*; 12:58872655-58872655

 prostateadenomaSubstitution - Nonsense

c.116C>G; p.S39C; 12:58920120-58920120

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1983C>A; p.F661L; 12:58878924-58878924

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2428G>T; p.V810F; 12:58877508-58877508

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2815G>T; p.D939Y; 12:58874454-58874454

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2451C>G; p.C817W; 12:58877485-58877485

 breastcarcinomaSubstitution - Missense

c.2898G>T; p.K966N; 12:58874272-58874272

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1196G>A; p.R399H; 12:58885879-58885879

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2551C>T; p.P851S; 12:58876589-58876589

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1196G>A; p.R399H; 12:58885879-58885879

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Missense

c.2613C>A; p.Y871*; 12:58876527-58876527

 skin; neckmalignant_melanomaSubstitution - Nonsense

c.1654C>G; p.L552V; 12:58880728-58880728

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1506G>T; p.T502T; 12:58880876-58880876

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1593T>G; p.T531T; 12:58880789-58880789

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.413C>G; p.P138R; 12:58890767-58890767

 skinmalignant_melanomaSubstitution - Missense

c.700A>G; p.T234A; 12:58888922-58888922

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1344C>G; p.C448W; 12:58883005-58883005

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1896C>A; p.P632P; 12:58879011-58879011

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1896C>A; p.P632P; 12:58879011-58879011

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2833C>T; p.H945Y; 12:58874436-58874436

 skinmalignant_melanomaSubstitution - Missense

c.272C>T; p.A91V; 12:58914301-58914301

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1169G>A; p.R390Q; 12:58886813-58886813

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3328C>T; p.P1110S; 12:58872604-58872604

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1464A>G; p.P488P; 12:58882885-58882885

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2588C>T; p.T863M; 12:58876552-58876552

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.453C>T; p.D151D; 12:58890727-58890727

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1480+1G>T; p.?; 12:58882868-58882868

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.3053C>T; p.S1018F; 12:58874117-58874117

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2887A>T; p.S963C; 12:58874283-58874283

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.384-5_389delTCTAGGGCTGG; p.?; 12:58890791-58890801

 stomachadenocarcinomaUnknown

c.2342G>A; p.R781H; 12:58877594-58877594

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2671T>C; p.F891L; 12:58876469-58876469

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.411C>A; p.L137L; 12:58890769-58890769

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.20G>A; p.R7H; 12:58920216-58920216

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3214C>G; p.H1072D; 12:58872718-58872718

 large_intestine; colonadenomaSubstitution - Missense

c.2666G>T; p.G889V; 12:58876474-58876474

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.281T>C; p.M94T; 12:58914292-58914292

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1189C>T; p.R397W; 12:58885886-58885886

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2556A>T; p.A852A; 12:58876584-58876584

 thyroidother; neoplasmSubstitution - coding silent

c.2697G>A; p.G899G; 12:58874572-58874572

 skinmalignant_melanomaSubstitution - coding silent

c.2494C>A; p.H832N; 12:58877442-58877442

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2248C>T; p.Q750*; 12:58877688-58877688

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.908G>A; p.S303N; 12:58888368-58888368

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2371G>A; p.D791N; 12:58877565-58877565

 breastcarcinomaSubstitution - Missense

c.1344C>T; p.C448C; 12:58883005-58883005

 central_nervous_system; braingliomaSubstitution - coding silent

c.1655T>C; p.L552P; 12:58880727-58880727

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2369G>A; p.C790Y; 12:58877567-58877567

 breastcarcinomaSubstitution - Missense

c.1158C>G; p.D386E; 12:58886824-58886824

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.507C>G; p.L169L; 12:58890673-58890673

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3311T>C; p.L1104S; 12:58872621-58872621

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3333T>C; p.N1111N; 12:58872599-58872599

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.671G>A; p.R224Q; 12:58888951-58888951

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.240delC; p.L81fs*1; 12:58914333-58914333

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.2235_2236insT; p.A746fs*16; 12:58877700-58877701

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.2235_2236insT; p.A746fs*16; 12:58877700-58877701

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.2540A>G; p.E847G; 12:58876600-58876600

 livercarcinomaSubstitution - Missense

c.2873A>G; p.D958G; 12:58874297-58874297

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1679T>C; p.M560T; 12:58880703-58880703

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.237-1delG; p.?; 12:58914337-58914337

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.2554G>A; p.A852T; 12:58876586-58876586

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.771A>G; p.G257G; 12:58888851-58888851

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1489C>T; p.P497S; 12:58880893-58880893

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1209A>G; p.K403K; 12:58885866-58885866

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3015T>C; p.N1005N; 12:58874155-58874155

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1439delG; p.G480fs*32; 12:58882910-58882910

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.2431G>A; p.V811M; 12:58877505-58877505

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2431G>A; p.V811M; 12:58877505-58877505

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2431G>A; p.V811M; 12:58877505-58877505

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.383+9A>G; p.?; 12:58913973-58913973

 livercarcinomaUnknown

c.1657C>T; p.R553W; 12:58880725-58880725

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1657C>T; p.R553W; 12:58880725-58880725

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.383+9A>G; p.?; 12:58913973-58913973

 livercarcinomaUnknown

c.2704C>T; p.H902Y; 12:58874565-58874565

 skinmalignant_melanomaSubstitution - Missense

c.1657C>T; p.R553W; 12:58880725-58880725

 stomachadenocarcinomaSubstitution - Missense

c.2627G>A; p.S876N; 12:58876513-58876513

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.608G>A; p.R203Q; 12:58890047-58890047

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1606A>T; p.K536*; 12:58880776-58880776

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.1972G>T; p.D658Y; 12:58878935-58878935

 livercarcinomaSubstitution - Missense

c.1972G>T; p.D658Y; 12:58878935-58878935

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.302G>A; p.R101Q; 12:58914271-58914271

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.302G>A; p.R101Q; 12:58914271-58914271

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2142C>T; p.A714A; 12:58877794-58877794

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1027G>T; p.G343W; 12:58887853-58887853

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1261G>A; p.A421T; 12:58883575-58883575

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1261G>A; p.A421T; 12:58883575-58883575

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1261G>A; p.A421T; 12:58883575-58883575

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2048G>A; p.G683E; 12:58878859-58878859

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1261G>A; p.A421T; 12:58883575-58883575

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1843C>T; p.R615*; 12:58879064-58879064

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.2679A>G; p.P893P; 12:58876461-58876461

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.838A>G; p.K280E; 12:58888438-58888438

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1264A>G; p.I422V; 12:58883572-58883572

 livercarcinomaSubstitution - Missense

c.1677G>T; p.V559V; 12:58880705-58880705

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2071C>T; p.L691L; 12:58878836-58878836

 skinmalignant_melanomaSubstitution - coding silent

c.2270C>A; p.S757*; 12:58877666-58877666

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2338G>A; p.V780M; 12:58877598-58877598

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1726G>A; p.E576K; 12:58880656-58880656

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2338G>A; p.V780M; 12:58877598-58877598

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.661G>A; p.E221K; 12:58888961-58888961

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1756C>T; p.H586Y; 12:58880626-58880626

 skinmalignant_melanomaSubstitution - Missense

c.2424G>T; p.V808V; 12:58877512-58877512

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.3221C>T; p.S1074F; 12:58872711-58872711

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.624A>C; p.P208P; 12:58890031-58890031

 breastcarcinomaSubstitution - coding silent

c.1110A>C; p.E370D; 12:58886872-58886872

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.102A>G; p.E34E; 12:58920134-58920134

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.102A>G; p.E34E; 12:58920134-58920134

 livercarcinomaSubstitution - coding silent

c.1336C>G; p.L446V; 12:58883013-58883013

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1731G>T; p.G577G; 12:58880651-58880651

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1854C>A; p.A618A; 12:58879053-58879053

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2177C>T; p.P726L; 12:58877759-58877759

 skinmalignant_melanomaSubstitution - Missense

c.1731G>T; p.G577G; 12:58880651-58880651

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.376C>A; p.L126I; 12:58913989-58913989

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; essential_thrombocythaemiaSubstitution - Missense

c.376C>A; p.L126I; 12:58913989-58913989

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1275A>T; p.L425F; 12:58883561-58883561

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.563A>T; p.D188V; 12:58890092-58890092

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1429C>A; p.L477M; 12:58882920-58882920

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.628A>G; p.K210E; 12:58890027-58890027

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2277C>T; p.V759V; 12:58877659-58877659

 skinmalignant_melanomaSubstitution - coding silent

c.1634A>G; p.E545G; 12:58880748-58880748

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2450G>T; p.C817F; 12:58877486-58877486

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.2278A>T; p.S760C; 12:58877658-58877658

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2803G>T; p.V935L; 12:58874466-58874466

 thyroidother; neoplasmSubstitution - Missense

c.795G>A; p.M265I; 12:58888827-58888827

 bone; femurchondrosarcomaSubstitution - Missense

c.273A>G; p.A91A; 12:58914300-58914300

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2397G>A; p.S799S; 12:58877539-58877539

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2397G>A; p.S799S; 12:58877539-58877539

 central_nervous_system; braingliomaSubstitution - coding silent

c.2840-1G>T; p.?; 12:58874331-58874331

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.380C>T; p.S127F; 12:58913985-58913985

 skinmalignant_melanomaSubstitution - Missense

c.114C>A; p.P38P; 12:58920122-58920122

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.380C>T; p.S127F; 12:58913985-58913985

 skinmalignant_melanomaSubstitution - Missense

c.1506G>A; p.T502T; 12:58880876-58880876

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.612C>G; p.I204M; 12:58890043-58890043

 breastcarcinomaSubstitution - Missense

c.766G>A; p.D256N; 12:58888856-58888856

 bone; femurchondrosarcomaSubstitution - Missense

c.370A>G; p.T124A; 12:58913995-58913995

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3084A>T; p.P1028P; 12:58874086-58874086

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2009A>T; p.D670V; 12:58878898-58878898

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.509A>C; p.K170T; 12:58890671-58890671

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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