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

Basic Information

Gene ID

11184

Name

MAP4K1

Synonymous

mitogen-activated protein kinase kinase kinase kinase 1;MAP4K1;mitogen-activated protein kinase kinase kinase kinase 1

Definition

MAPK/ERK kinase kinase kinase 1|MEK kinase kinase 1|MEKKK 1|hematopoietic progenitor kinase 1

Position

19q13.1-q13.4

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 0.11.

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.983G>A; p.G328E; 19:38609619-38609619

 skin; extremitymalignant_melanomaSubstitution - Missense

c.1228G>A; p.G410S; 19:38605703-38605703

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.214G>A; p.A72T; 19:38617388-38617388

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2180-1G>A; p.?; 19:38595730-38595730

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.2290C>T; p.Q764*; 19:38595535-38595535

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1914G>T; p.Q638H; 19:38597061-38597061

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.894C>T; p.P298P; 19:38609942-38609942

 skinmalignant_melanomaSubstitution - coding silent

c.894C>T; p.P298P; 19:38609942-38609942

 skinmalignant_melanomaSubstitution - coding silent

c.894C>T; p.P298P; 19:38609942-38609942

 skinmalignant_melanomaSubstitution - coding silent

c.931_932CC>TT; p.P311F; 19:38609670-38609671

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1766G>A; p.R589H; 19:38597498-38597498

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1633G>C; p.V545L; 19:38599961-38599961

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1278C>T; p.V426V; 19:38605653-38605653

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2154A>G; p.E718E; 19:38595964-38595964

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2178T>C; p.D726D; 19:38595940-38595940

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2154A>G; p.E718E; 19:38595964-38595964

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2178T>C; p.D726D; 19:38595940-38595940

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2154A>G; p.E718E; 19:38595964-38595964

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1194C>T; p.P398P; 19:38606179-38606179

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.63G>A; p.Q21Q; 19:38617833-38617833

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.455G>A; p.R152K; 19:38614048-38614048

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1929C>G; p.F643L; 19:38597046-38597046

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.883G>A; p.G295R; 19:38609953-38609953

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1242G>A; p.M414I; 19:38605689-38605689

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.2193G>A; p.L731L; 19:38595716-38595716

 skinmalignant_melanomaSubstitution - coding silent

c.213C>T; p.H71H; 19:38617389-38617389

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.408G>A; p.R136R; 19:38614254-38614254

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.889_890insA; p.G297fs*8; 19:38609946-38609947

 stomachadenocarcinomaInsertion - Frameshift

c.1494C>T; p.I498I; 19:38601478-38601478

 breastcarcinomaSubstitution - coding silent

c.1006C>T; p.R336W; 19:38609596-38609596

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1959G>A; p.L653L; 19:38596469-38596469

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.927+5G>A; p.?; 19:38609904-38609904

 oesophaguscarcinoma; adenocarcinomaUnknown

c.2218C>T; p.R740W; 19:38595691-38595691

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2218C>T; p.R740W; 19:38595691-38595691

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1010G>A; p.R337Q; 19:38608167-38608167

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.682A>G; p.T228A; 19:38611289-38611289

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1507G>T; p.A503S; 19:38601465-38601465

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.728+4C>T; p.?; 19:38611239-38611239

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.728+4C>T; p.?; 19:38611239-38611239

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.2264C>T; p.A755V; 19:38595645-38595645

 skinmalignant_melanomaSubstitution - Missense

c.506G>A; p.R169H; 19:38613907-38613907

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1128G>A; p.S376S; 19:38607893-38607893

 breastcarcinomaSubstitution - coding silent

c.2264C>T; p.A755V; 19:38595645-38595645

 skinmalignant_melanomaSubstitution - Missense

c.506G>A; p.R169H; 19:38613907-38613907

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.784C>T; p.R262*; 19:38611077-38611077

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.157G>A; p.D53N; 19:38617568-38617568

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1872C>T; p.C624C; 19:38597103-38597103

 thyroidother; neoplasmSubstitution - coding silent

c.1040T>A; p.M347K; 19:38608137-38608137

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.81G>A; p.T27T; 19:38617815-38617815

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1863G>A; p.P621P; 19:38597112-38597112

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1863G>A; p.P621P; 19:38597112-38597112

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.386A>G; p.H129R; 19:38614276-38614276

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1941G>A; p.R647R; 19:38597034-38597034

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.933C>T; p.P311P; 19:38609669-38609669

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.841C>T; p.R281*; 19:38609995-38609995

 breastcarcinoma; HER-positive_carcinomaSubstitution - Nonsense

c.683C>T; p.T228I; 19:38611288-38611288

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.663C>T; p.L221L; 19:38612613-38612613

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.550G>A; p.A184T; 19:38612726-38612726

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2266G>A; p.V756M; 19:38595643-38595643

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1395G>A; p.E465E; 19:38605460-38605460

 breastcarcinomaSubstitution - coding silent

c.1065+3G>A; p.?; 19:38608109-38608109

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.408G>C; p.R136S; 19:38614254-38614254

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.80C>T; p.T27M; 19:38617816-38617816

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2210C>T; p.S737F; 19:38595699-38595699

 skinmalignant_melanomaSubstitution - Missense

c.2210C>T; p.S737F; 19:38595699-38595699

 skinmalignant_melanomaSubstitution - Missense

c.1390C>A; p.R464R; 19:38605465-38605465

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.57G>A; p.L19L; 19:38617839-38617839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1545C>A; p.L515L; 19:38600140-38600140

 ovaryother; neoplasmSubstitution - coding silent

c.2335G>A; p.D779N; 19:38595490-38595490

 skinmalignant_melanomaSubstitution - Missense

c.2335G>A; p.D779N; 19:38595490-38595490

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2225T>A; p.L742H; 19:38595684-38595684

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.735T>A; p.A245A; 19:38611126-38611126

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2214A>G; p.P738P; 19:38595695-38595695

 skinmalignant_melanomaSubstitution - coding silent

c.2214A>G; p.P738P; 19:38595695-38595695

 skinmalignant_melanomaSubstitution - coding silent

c.323C>G; p.S108C; 19:38614436-38614436

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1335C>T; p.T445T; 19:38605596-38605596

 skinmalignant_melanomaSubstitution - coding silent

c.1313G>A; p.R438H; 19:38605618-38605618

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.841C>A; p.R281R; 19:38609995-38609995

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1581G>C; p.R527R; 19:38600104-38600104

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2422C>G; p.P808A; 19:38589250-38589250

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2422C>G; p.P808A; 19:38589250-38589250

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2422C>G; p.P808A; 19:38589250-38589250

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1092C>G; p.L364L; 19:38608007-38608007

 breastcarcinomaSubstitution - coding silent

c.491C>A; p.A164D; 19:38613922-38613922

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2026G>A; p.G676S; 19:38596402-38596402

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.334C>T; p.L112F; 19:38614425-38614425

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.882C>T; p.P294P; 19:38609954-38609954

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.882C>T; p.P294P; 19:38609954-38609954

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.406A>G; p.R136G; 19:38614256-38614256

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.618C>T; p.I206I; 19:38612658-38612658

 skinmalignant_melanomaSubstitution - coding silent

c.1146C>T; p.D382D; 19:38607875-38607875

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2501A>G; p.*834W; 19:38587811-38587811

 skinmalignant_melanomaNonstop extension

c.270C>T; p.C90C; 19:38616238-38616238

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2357G>A; p.R786K; 19:38593321-38593321

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1667C>G; p.S556*; 19:38599927-38599927

 pancreascarcinomaSubstitution - Nonsense

c.505C>T; p.R169C; 19:38613908-38613908

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.505C>T; p.R169C; 19:38613908-38613908

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.928-6G>A; p.?; 19:38609680-38609680

 oesophaguscarcinoma; adenocarcinomaUnknown

c.1223A>G; p.D408G; 19:38605708-38605708

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.670C>A; p.L224I; 19:38611301-38611301

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.666-7A>C; p.?; 19:38611312-38611312

 ovaryother; neoplasmUnknown

c.323C>T; p.S108F; 19:38614436-38614436

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2074C>T; p.R692C; 19:38596354-38596354

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.889G>C; p.G297R; 19:38609947-38609947

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.77G>A; p.G26D; 19:38617819-38617819

 pancreascarcinomaSubstitution - Missense

c.1106_1107CC>TT; p.P369L; 19:38607992-38607993

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2221G>T; p.G741*; 19:38595688-38595688

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1603G>A; p.E535K; 19:38600082-38600082

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.531C>G; p.Y177*; 19:38613882-38613882

 breastcarcinomaSubstitution - Nonsense

c.70G>A; p.G24S; 19:38617826-38617826

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1232C>A; p.P411H; 19:38605699-38605699

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1508C>T; p.A503V; 19:38601464-38601464

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.619G>T; p.E207*; 19:38612657-38612657

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2389T>C; p.S797P; 19:38593289-38593289

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157+1G>A; p.?; 19:38617567-38617567

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.1724A>T; p.E575V; 19:38597540-38597540

 breastcarcinomaSubstitution - Missense

c.997G>C; p.D333H; 19:38609605-38609605

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1434G>C; p.K478N; 19:38605421-38605421

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.222C>T; p.I74I; 19:38617380-38617380

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.954C>T; p.I318I; 19:38609648-38609648

 skinmalignant_melanomaSubstitution - coding silent

c.1085G>A; p.R362Q; 19:38608014-38608014

 breastcarcinomaSubstitution - Missense

c.2251G>A; p.E751K; 19:38595658-38595658

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2378G>A; p.R793H; 19:38593300-38593300

 small_intestinecarcinoid-endocrine_tumourSubstitution - Missense

c.2288T>A; p.L763H; 19:38595537-38595537

 pancreascarcinomaSubstitution - Missense

c.797C>A; p.T266N; 19:38611064-38611064

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1807G>A; p.D603N; 19:38597356-38597356

 skinmalignant_melanomaSubstitution - Missense

c.1152G>T; p.V384V; 19:38607869-38607869

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1594G>A; p.A532T; 19:38600091-38600091

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1594G>A; p.A532T; 19:38600091-38600091

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.915T>C; p.D305D; 19:38609921-38609921

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.663C>G; p.L221L; 19:38612613-38612613

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1669G>T; p.G557*; 19:38599925-38599925

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1702C>A; p.L568I; 19:38597562-38597562

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1110-3C>T; p.?; 19:38607914-38607914

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1747G>A; p.A583T; 19:38597517-38597517

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.419G>A; p.G140E; 19:38614084-38614084

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.733G>A; p.A245T; 19:38611128-38611128

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.704C>T; p.P235L; 19:38611267-38611267

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.704C>T; p.P235L; 19:38611267-38611267

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1507G>A; p.A503T; 19:38601465-38601465

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1529A>T; p.K510M; 19:38601443-38601443

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2075G>A; p.R692H; 19:38596353-38596353

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1684C>T; p.L562L; 19:38597580-38597580

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.226G>A; p.A76T; 19:38617376-38617376

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1200G>A; p.K400K; 19:38606173-38606173

 skinmalignant_melanomaSubstitution - coding silent

c.170C>G; p.S57C; 19:38617432-38617432

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.6C>T; p.D2D; 19:38617890-38617890

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1665C>A; p.L555L; 19:38599929-38599929

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1555G>C; p.E519Q; 19:38600130-38600130

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1778+1G>A; p.?; 19:38597485-38597485

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1887G>A; p.T629T; 19:38597088-38597088

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - coding silent

c.1122A>T; p.S374S; 19:38607899-38607899

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.918_919GG>AA; p.E307K; 19:38609917-38609918

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.862C>T; p.L288F; 19:38609974-38609974

 skinmalignant_melanomaSubstitution - Missense

c.2359G>T; p.D787Y; 19:38593319-38593319

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2334G>A; p.S778S; 19:38595491-38595491

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.9C>T; p.V3V; 19:38617887-38617887

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.619G>A; p.E207K; 19:38612657-38612657

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1540C>T; p.L514L; 19:38600145-38600145

 skinmalignant_melanomaSubstitution - coding silent

c.619G>A; p.E207K; 19:38612657-38612657

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1736G>A; p.G579E; 19:38597528-38597528

 breastcarcinomaSubstitution - Missense

c.1623G>C; p.R541R; 19:38599971-38599971

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.417G>T; p.K139N; 19:38614245-38614245

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1665C>T; p.L555L; 19:38599929-38599929

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1267G>A; p.G423R; 19:38605664-38605664

 skinmalignant_melanomaSubstitution - Missense

c.1665C>T; p.L555L; 19:38599929-38599929

 skinmalignant_melanomaSubstitution - coding silent

c.1826C>T; p.A609V; 19:38597337-38597337

 breastcarcinomaSubstitution - Missense

c.154C>T; p.P52S; 19:38617571-38617571

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1765C>T; p.R589C; 19:38597499-38597499

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1859G>A; p.G620D; 19:38597116-38597116

 skinmalignant_melanomaSubstitution - Missense

c.1611C>G; p.L537L; 19:38599983-38599983

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.208C>T; p.R70W; 19:38617394-38617394

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.654G>C; p.V218V; 19:38612622-38612622

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.723C>T; p.G241G; 19:38611248-38611248

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

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