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

Basic Information

Gene ID

79192

Name

IRX1

Synonymous

iroquois homeobox 1;IRX1;iroquois homeobox 1

Definition

homeodomain protein IRXA1|iroquois homeobox protein 1|iroquois-class homeodomain protein IRX-1

Position

5p15.3

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 0.01.

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.1189C>T; p.P397S; 5:3600137-3600137

urinary_tract; bladdercarcinomaSubstitution - Missense

c.624C>T; p.S208S; 5:3599572-3599572

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.441C>A; p.N147K; 5:3599389-3599389

livercarcinomaSubstitution - Missense

c.388C>A; p.R130R; 5:3599336-3599336

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.441C>A; p.N147K; 5:3599389-3599389

livercarcinomaSubstitution - Missense

c.360C>T; p.Y120Y; 5:3599308-3599308

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.564G>T; p.E188D; 5:3599512-3599512

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.360C>T; p.Y120Y; 5:3599308-3599308

stomachadenocarcinomaSubstitution - coding silent

c.1413G>A; p.P471P; 5:3601010-3601010

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1198G>A; p.A400T; 5:3600146-3600146

pancreascarcinomaSubstitution - Missense

c.197C>T; p.A66V; 5:3596302-3596302

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1413G>A; p.P471P; 5:3601010-3601010

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1384A>G; p.N462D; 5:3600680-3600680

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.584C>A; p.A195E; 5:3599532-3599532

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1185C>T; p.G395G; 5:3600133-3600133

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1185C>T; p.G395G; 5:3600133-3600133

prostatecarcinomaSubstitution - coding silent

c.1042G>A; p.A348T; 5:3599990-3599990

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.960G>C; p.A320A; 5:3599908-3599908

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.587G>A; p.R196H; 5:3599535-3599535

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1093A>G; p.T365A; 5:3600041-3600041

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1267C>G; p.L423V; 5:3600215-3600215

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.396G>A; p.K132K; 5:3599344-3599344

livercarcinomaSubstitution - coding silent

c.1314G>A; p.E438E; 5:3600610-3600610

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.806T>A; p.L269Q; 5:3599754-3599754

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.396G>A; p.K132K; 5:3599344-3599344

livercarcinomaSubstitution - coding silent

c.1062delC; p.A356fs*97; 5:3600010-3600010

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.424C>A; p.L142I; 5:3599372-3599372

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1171T>A; p.F391I; 5:3600119-3600119

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.370C>A; p.Q124K; 5:3599318-3599318

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1093A>C; p.T365P; 5:3600041-3600041

thyroidother; neoplasmSubstitution - Missense

c.1093A>C; p.T365P; 5:3600041-3600041

thyroidother; neoplasmSubstitution - Missense

c.744G>A; p.K248K; 5:3599692-3599692

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.531G>T; p.W177C; 5:3599479-3599479

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.385G>A; p.G129R; 5:3599333-3599333

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.462C>T; p.Y154Y; 5:3599410-3599410

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1386-8C>G; p.?; 5:3600975-3600975

pancreascarcinomaUnknown

c.1119C>T; p.N373N; 5:3600067-3600067

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.355C>A; p.P119T; 5:3599303-3599303

livercarcinomaSubstitution - Missense

c.355C>A; p.P119T; 5:3599303-3599303

livercarcinomaSubstitution - Missense

c.1180G>A; p.V394I; 5:3600128-3600128

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1357A>C; p.K453Q; 5:3600653-3600653

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.486G>C; p.M162I; 5:3599434-3599434

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.1080C>A; p.S360R; 5:3600028-3600028

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.319G>A; p.A107T; 5:3599267-3599267

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.329C>G; p.A110G; 5:3599277-3599277

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.463C>T; p.P155S; 5:3599411-3599411

skinmalignant_melanomaSubstitution - Missense

c.458C>T; p.P153L; 5:3599406-3599406

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.714C>A; p.G238G; 5:3599662-3599662

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.369C>T; p.F123F; 5:3599317-3599317

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.547C>T; p.R183W; 5:3599495-3599495

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.587G>T; p.R196L; 5:3599535-3599535

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1286C>T; p.S429L; 5:3600234-3600234

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.553C>T; p.L185F; 5:3599501-3599501

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.690T>C; p.I230I; 5:3599638-3599638

prostatecarcinomaSubstitution - coding silent

c.558G>T; p.K186N; 5:3599506-3599506

pancreascarcinomaSubstitution - Missense

c.696G>C; p.K232N; 5:3599644-3599644

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.884G>A; p.R295H; 5:3599832-3599832

pancreascarcinomaSubstitution - Missense

c.491C>A; p.A164D; 5:3599439-3599439

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.661G>A; p.E221K; 5:3599609-3599609

skinmalignant_melanomaSubstitution - Missense

c.361G>A; p.G121S; 5:3599309-3599309

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.328G>T; p.A110S; 5:3599276-3599276

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.282G>C; p.S94S; 5:3599230-3599230

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1350G>T; p.Q450H; 5:3600646-3600646

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1379G>A; p.R460H; 5:3600675-3600675

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.413G>T; p.S138I; 5:3599361-3599361

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.447C>A; p.H149Q; 5:3599395-3599395

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.849C>A; p.G283G; 5:3599797-3599797

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.849C>A; p.G283G; 5:3599797-3599797

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.849C>A; p.G283G; 5:3599797-3599797

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.282G>A; p.S94S; 5:3599230-3599230

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.282G>A; p.S94S; 5:3599230-3599230

ovaryother; neoplasmSubstitution - coding silent

c.1272T>C; p.N424N; 5:3600220-3600220

thyroidother; neoplasmSubstitution - coding silent

c.1287_1288GG>TA; p.V430I; 5:3600235-3600236

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1412C>G; p.P471R; 5:3601009-3601009

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1244C>G; p.P415R; 5:3600192-3600192

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.422C>T; p.T141M; 5:3599370-3599370

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.544C>T; p.R182C; 5:3599492-3599492

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.201G>T; p.A67A; 5:3596306-3596306

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - coding silent

c.544C>T; p.R182C; 5:3599492-3599492

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1191C>A; p.P397P; 5:3600139-3600139

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.819C>T; p.D273D; 5:3599767-3599767

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.800C>T; p.S267L; 5:3599748-3599748

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.231C>T; p.S77S; 5:3596336-3596336

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1045G>T; p.G349W; 5:3599993-3599993

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.817G>A; p.D273N; 5:3599765-3599765

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1091A>G; p.Y364C; 5:3600039-3600039

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.685G>A; p.D229N; 5:3599633-3599633

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.685G>A; p.D229N; 5:3599633-3599633

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.439A>G; p.N147D; 5:3599387-3599387

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1383C>G; p.D461E; 5:3600679-3600679

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.541G>A; p.A181T; 5:3599489-3599489

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1160A>G; p.N387S; 5:3600108-3600108

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.583G>A; p.A195T; 5:3599531-3599531

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1204C>T; p.H402Y; 5:3600152-3600152

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.342G>A; p.A114A; 5:3599290-3599290

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.341C>T; p.A114V; 5:3599289-3599289

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.507G>T; p.M169I; 5:3599455-3599455

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1219C>T; p.P407S; 5:3600167-3600167

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1299C>A; p.S433R; 5:3600247-3600247

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1133C>G; p.A378G; 5:3600081-3600081

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1373C>T; p.P458L; 5:3600669-3600669

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.784G>T; p.A262S; 5:3599732-3599732

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.670G>A; p.D224N; 5:3599618-3599618

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.670G>A; p.D224N; 5:3599618-3599618

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1409C>T; p.T470M; 5:3601006-3601006

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.466A>T; p.T156S; 5:3599414-3599414

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.628A>G; p.T210A; 5:3599576-3599576

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1273G>T; p.G425*; 5:3600221-3600221

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.611C>T; p.A204V; 5:3599559-3599559

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.611C>T; p.A204V; 5:3599559-3599559

large_intestine; coloncarcinomaSubstitution - Missense

c.611C>T; p.A204V; 5:3599559-3599559

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.406C>A; p.R136S; 5:3599354-3599354

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.747C>T; p.A249A; 5:3599695-3599695

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.747C>T; p.A249A; 5:3599695-3599695

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.535G>A; p.A179T; 5:3599483-3599483

central_nervous_system; braingliomaSubstitution - Missense

c.535G>A; p.A179T; 5:3599483-3599483

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1030C>T; p.H344Y; 5:3599978-3599978

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.400G>T; p.A134S; 5:3599348-3599348

livercarcinomaSubstitution - Missense

c.396G>T; p.K132N; 5:3599344-3599344

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.400G>T; p.A134S; 5:3599348-3599348

livercarcinomaSubstitution - Missense

c.613C>A; p.L205I; 5:3599561-3599561

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.445_446insTCAACGAGC; p.E148_H149insLNE; 5:3599393-3599394

prostatecarcinomaInsertion - In frame

c.244T>A; p.Y82N; 5:3596349-3596349

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.512T>A; p.L171H; 5:3599460-3599460

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1385A>G; p.N462S; 5:3600681-3600681

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.658G>A; p.D220N; 5:3599606-3599606

skinmalignant_melanomaSubstitution - Missense

c.561G>A; p.K187K; 5:3599509-3599509

skinmalignant_melanomaSubstitution - coding silent

c.514A>G; p.T172A; 5:3599462-3599462

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.620G>T; p.G207V; 5:3599568-3599568

soft_tissue; striated_musclerhabdoid_tumourSubstitution - Missense

c.601G>A; p.E201K; 5:3599549-3599549

skinmalignant_melanomaSubstitution - Missense

c.1217T>G; p.L406R; 5:3600165-3600165

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.405C>T; p.T135T; 5:3599353-3599353

skinmalignant_melanomaSubstitution - coding silent

c.369C>G; p.F123L; 5:3599317-3599317

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.312G>T; p.V104V; 5:3599260-3599260

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.348T>C; p.A116A; 5:3599296-3599296

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.635G>A; p.G212D; 5:3599583-3599583

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1438G>A; p.A480T; 5:3601035-3601035

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1438G>A; p.A480T; 5:3601035-3601035

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1341G>A; p.S447S; 5:3600637-3600637

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1341G>A; p.S447S; 5:3600637-3600637

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.273G>A; p.Q91Q; 5:3596378-3596378

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1166G>A; p.R389H; 5:3600114-3600114

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.652G>A; p.E218K; 5:3599600-3599600

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.660C>T; p.D220D; 5:3599608-3599608

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.660C>T; p.D220D; 5:3599608-3599608

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1166G>A; p.R389H; 5:3600114-3600114

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.475G>A; p.E159K; 5:3599423-3599423

prostatecarcinomaSubstitution - Missense

c.1260delG; p.A422fs*31; 5:3600208-3600208

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.212C>T; p.A71V; 5:3596317-3596317

peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.1398G>A; p.P466P; 5:3600995-3600995

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.355C>T; p.P119S; 5:3599303-3599303

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.846G>T; p.L282F; 5:3599794-3599794

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.543G>A; p.A181A; 5:3599491-3599491

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.543G>A; p.A181A; 5:3599491-3599491

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1265C>T; p.A422V; 5:3600213-3600213

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1419C>T; p.I473I; 5:3601016-3601016

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.619G>T; p.G207C; 5:3599567-3599567

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1419C>G; p.I473M; 5:3601016-3601016

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1186G>A; p.A396T; 5:3600134-3600134

pancreascarcinomaSubstitution - Missense

c.1186G>A; p.A396T; 5:3600134-3600134

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.526A>G; p.T176A; 5:3599474-3599474

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.348T>G; p.A116A; 5:3599296-3599296

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.709G>A; p.D237N; 5:3599657-3599657

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.1178G>T; p.G393V; 5:3600126-3600126

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.493A>G; p.I165V; 5:3599441-3599441

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1032C>A; p.H344Q; 5:3599980-3599980

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1165C>T; p.R389C; 5:3600113-3600113

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1165C>T; p.R389C; 5:3600113-3600113

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.511C>A; p.L171I; 5:3599459-3599459

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.511C>A; p.L171I; 5:3599459-3599459

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.511C>A; p.L171I; 5:3599459-3599459

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1187C>A; p.A396D; 5:3600135-3600135

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1190C>T; p.P397L; 5:3600138-3600138

urinary_tract; bladdercarcinomaSubstitution - Missense

c.509C>G; p.T170S; 5:3599457-3599457

pancreascarcinomaSubstitution - Missense

c.641C>T; p.P214L; 5:3599589-3599589

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1343C>A; p.P448Q; 5:3600639-3600639

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.378G>A; p.G126G; 5:3599326-3599326

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.329C>T; p.A110V; 5:3599277-3599277

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1134A>C; p.A378A; 5:3600082-3600082

skinmalignant_melanomaSubstitution - coding silent

c.584C>T; p.A195V; 5:3599532-3599532

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.387G>C; p.G129G; 5:3599335-3599335

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1245G>A; p.P415P; 5:3600193-3600193

pancreasNSSubstitution - coding silent

c.338C>T; p.T113M; 5:3599286-3599286

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.338C>T; p.T113M; 5:3599286-3599286

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1439C>G; p.A480G; 5:3601036-3601036

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.928C>T; p.P310S; 5:3599876-3599876

pancreascarcinomaSubstitution - Missense

c.765C>T; p.P255P; 5:3599713-3599713

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1314G>T; p.E438D; 5:3600610-3600610

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.384C>T; p.P128P; 5:3599332-3599332

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.198G>A; p.A66A; 5:3596303-3596303

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.311T>C; p.V104A; 5:3599259-3599259

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.311T>C; p.V104A; 5:3599259-3599259

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.343C>T; p.P115S; 5:3599291-3599291

skinmalignant_melanomaSubstitution - Missense

c.437T>G; p.L146R; 5:3599385-3599385

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.700G>A; p.D234N; 5:3599648-3599648

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1205A>G; p.H402R; 5:3600153-3600153

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1205A>G; p.H402R; 5:3600153-3600153

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.872C>A; p.P291Q; 5:3599820-3599820

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1132G>A; p.A378T; 5:3600080-3600080

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1132G>A; p.A378T; 5:3600080-3600080

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.665A>T; p.E222V; 5:3599613-3599613

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.735C>T; p.D245D; 5:3599683-3599683

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.811G>A; p.A271T; 5:3599759-3599759

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.339G>A; p.T113T; 5:3599287-3599287

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1199C>T; p.A400V; 5:3600147-3600147

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1047G>A; p.G349G; 5:3599995-3599995

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1142C>A; p.A381E; 5:3600090-3600090

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.630C>T; p.T210T; 5:3599578-3599578

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.472G>A; p.G158S; 5:3599420-3599420

lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.820G>A; p.V274I; 5:3599768-3599768

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.548G>A; p.R183Q; 5:3599496-3599496

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1323C>T; p.L441L; 5:3600619-3600619

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1361C>T; p.S454L; 5:3600657-3600657

skinmalignant_melanomaSubstitution - Missense

c.1228C>T; p.P410S; 5:3600176-3600176

skinmalignant_melanomaSubstitution - Missense

c.588C>T; p.R196R; 5:3599536-3599536

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.708C>T; p.H236H; 5:3599656-3599656

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.640C>G; p.P214A; 5:3599588-3599588

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1324G>A; p.V442I; 5:3600620-3600620

livercarcinomaSubstitution - Missense

c.1324G>A; p.V442I; 5:3600620-3600620

livercarcinomaSubstitution - Missense

c.447_448CC>AG; p.H149>?; 5:3599395-3599396

lungcarcinoma; adenocarcinomaComplex

c.277-5T>G; p.?; 5:3599220-3599220

pancreascarcinomaUnknown

c.620G>A; p.G207D; 5:3599568-3599568

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.313C>T; p.H105Y; 5:3599261-3599261

skinmalignant_melanomaSubstitution - Missense

c.1267C>A; p.L423I; 5:3600215-3600215

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense


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