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

Basic Information

Gene ID

2131

Name

EXT1

Synonymous

exostosin glycosyltransferase 1;EXT1;exostosin glycosyltransferase 1

Definition

Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|Langer-Giedion syndrome chromosome region|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase|exostoses (multiple) 1|exostosin 1|exostosin-1|glucuronosyl-

Position

8q24.11

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 0.09.

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.1300A>C; p.I434L; 8:117822582-117822582

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1386G>T; p.L462L; 8:117822496-117822496

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1537-1G>C; p.?; 8:117818531-117818531

 breastcarcinomaUnknown

c.414C>T; p.I138I; 8:118110633-118110633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.414C>T; p.I138I; 8:118110633-118110633

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.490G>A; p.D164N; 8:118110557-118110557

 livercarcinomaSubstitution - Missense

c.1660G>A; p.D554N; 8:117812934-117812934

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1012C>T; p.R338C; 8:117837152-117837152

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.312C>T; p.F104F; 8:118110735-118110735

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1144G>A; p.D382N; 8:117835464-117835464

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.891C>T; p.T297T; 8:118110156-118110156

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.891C>T; p.T297T; 8:118110156-118110156

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.2022G>C; p.Q674H; 8:117804755-117804755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2022G>C; p.Q674H; 8:117804755-117804755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2022G>C; p.Q674H; 8:117804755-117804755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1770G>A; p.V590V; 8:117807330-117807330

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2022G>C; p.Q674H; 8:117804755-117804755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2022G>C; p.Q674H; 8:117804755-117804755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2022G>C; p.Q674H; 8:117804755-117804755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2022G>C; p.Q674H; 8:117804755-117804755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2022G>C; p.Q674H; 8:117804755-117804755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2022G>C; p.Q674H; 8:117804755-117804755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2096C>A; p.A699D; 8:117799857-117799857

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.2022G>C; p.Q674H; 8:117804755-117804755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2022G>C; p.Q674H; 8:117804755-117804755

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1617T>G; p.I539M; 8:117818450-117818450

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1755C>T; p.F585F; 8:117807345-117807345

 skinmalignant_melanomaSubstitution - coding silent

c.612C>G; p.T204T; 8:118110435-118110435

 livercarcinomaSubstitution - coding silent

c.1571C>A; p.P524Q; 8:117818496-117818496

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.830C>T; p.S277L; 8:118110217-118110217

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.1263G>T; p.K421N; 8:117830251-117830251

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2007A>C; p.P669P; 8:117804770-117804770

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2007A>C; p.P669P; 8:117804770-117804770

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2028G>A; p.K676K; 8:117804749-117804749

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.505C>T; p.Q169*; 8:118110542-118110542

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2093T>C; p.F698S; 8:117799860-117799860

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2186T>C; p.F729S; 8:117799767-117799767

 pancreascarcinomaSubstitution - Missense

c.752T>C; p.L251S; 8:118110295-118110295

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2186T>C; p.F729S; 8:117799767-117799767

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.382G>A; p.A128T; 8:118110665-118110665

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.680G>A; p.R227Q; 8:118110367-118110367

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.924G>T; p.K308N; 8:118110123-118110123

 stomachadenocarcinomaSubstitution - Missense

c.931_936delCGCTGT; p.R311_C312delRC; 8:118110111-118110116

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - In frame

c.1780G>A; p.A594T; 8:117807320-117807320

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1611C>T; p.V537V; 8:117818456-117818456

 skinmalignant_melanomaSubstitution - coding silent

c.1485G>A; p.Q495Q; 8:117819727-117819727

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.959delA; p.E320fs*39; 8:118110088-118110088

 breastcarcinomaDeletion - Frameshift

c.316T>A; p.F106I; 8:118110731-118110731

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.595A>G; p.T199A; 8:118110452-118110452

 livercarcinomaSubstitution - Missense

c.595A>G; p.T199A; 8:118110452-118110452

 livercarcinomaSubstitution - Missense

c.2132G>T; p.W711L; 8:117799821-117799821

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1065C>T; p.C355C; 8:117835543-117835543

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1065C>T; p.C355C; 8:117835543-117835543

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1130C>T; p.A377V; 8:117835478-117835478

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1065C>T; p.C355C; 8:117835543-117835543

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2162A>G; p.Q721R; 8:117799791-117799791

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1211T>C; p.L404P; 8:117830303-117830303

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1164G>C; p.Q388H; 8:117830350-117830350

 breastcarcinomaSubstitution - Missense

c.1245T>G; p.Y415*; 8:117830269-117830269

 breastcarcinomaSubstitution - Nonsense

c.2146C>T; p.P716S; 8:117799807-117799807

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1784G>A; p.R595H; 8:117807316-117807316

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.541C>A; p.L181I; 8:118110506-118110506

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1517A>T; p.K506M; 8:117819695-117819695

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1704G>T; p.T568T; 8:117812890-117812890

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1538T>C; p.I513T; 8:117818529-117818529

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1956T>C; p.C652C; 8:117804821-117804821

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1704G>T; p.T568T; 8:117812890-117812890

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1391A>T; p.D464V; 8:117822491-117822491

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1644C>T; p.S548S; 8:117812950-117812950

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1787G>T; p.S596I; 8:117807313-117807313

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1645C>T; p.R549C; 8:117812949-117812949

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.777C>T; p.L259L; 8:118110270-118110270

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.724C>T; p.P242S; 8:118110323-118110323

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.563G>T; p.R188M; 8:118110484-118110484

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1704G>A; p.T568T; 8:117812890-117812890

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.2039A>C; p.E680A; 8:117804738-117804738

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1828T>C; p.S610P; 8:117807272-117807272

 bone; femurchondrosarcomaSubstitution - Missense

c.807G>T; p.K269N; 8:118110240-118110240

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1891C>T; p.H631Y; 8:117804886-117804886

 skinmalignant_melanomaSubstitution - Missense

c.822G>C; p.G274G; 8:118110225-118110225

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1843G>A; p.D615N; 8:117807257-117807257

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1867G>A; p.A623T; 8:117807233-117807233

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1867G>A; p.A623T; 8:117807233-117807233

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2033A>T; p.Y678F; 8:117804744-117804744

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.973C>T; p.R325W; 8:117837191-117837191

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.973C>T; p.R325W; 8:117837191-117837191

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2191G>T; p.D731Y; 8:117799762-117799762

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1024C>A; p.L342I; 8:117837140-117837140

 breastcarcinomaSubstitution - Missense

c.1842C>T; p.N614N; 8:117807258-117807258

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1842C>T; p.N614N; 8:117807258-117807258

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1842C>T; p.N614N; 8:117807258-117807258

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1376C>A; p.S459*; 8:117822506-117822506

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1612G>A; p.V538I; 8:117818455-117818455

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2183T>C; p.L728P; 8:117799770-117799770

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1186A>G; p.I396V; 8:117830328-117830328

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.349T>A; p.Y117N; 8:118110698-118110698

 breastcarcinomaSubstitution - Missense

c.1612G>A; p.V538I; 8:117818455-117818455

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1612G>A; p.V538I; 8:117818455-117818455

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.655G>T; p.A219S; 8:118110392-118110392

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.655G>T; p.A219S; 8:118110392-118110392

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.655G>T; p.A219S; 8:118110392-118110392

 large_intestine; coloncarcinomaSubstitution - Missense

c.655G>T; p.A219S; 8:118110392-118110392

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.115G>A; p.E39K; 8:118110932-118110932

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1203C>T; p.I401I; 8:117830311-117830311

 skinmalignant_melanomaSubstitution - coding silent

c.1134C>T; p.A378A; 8:117835474-117835474

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.962+1G>T; p.?; 8:118110084-118110084

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1805C>T; p.S602F; 8:117807295-117807295

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.542T>C; p.L181P; 8:118110505-118110505

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1440C>T; p.F480F; 8:117819772-117819772

 skinmalignant_melanomaSubstitution - coding silent

c.1813C>T; p.R605W; 8:117807287-117807287

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1481_1482CC>TT; p.S494F; 8:117819730-117819731

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.51C>T; p.L17L; 8:118110996-118110996

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1800T>C; p.D600D; 8:117807300-117807300

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.781A>G; p.K261E; 8:118110266-118110266

 breastcarcinomaSubstitution - Missense

c.581A>G; p.N194S; 8:118110466-118110466

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.413T>C; p.I138T; 8:118110634-118110634

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1703C>T; p.T568M; 8:117812891-117812891

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2146C>A; p.P716T; 8:117799807-117799807

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1703C>T; p.T568M; 8:117812891-117812891

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.430T>C; p.Y144H; 8:118110617-118110617

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1703C>T; p.T568M; 8:117812891-117812891

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1703C>T; p.T568M; 8:117812891-117812891

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1452C>T; p.I484I; 8:117819760-117819760

 skinmalignant_melanomaSubstitution - coding silent

c.817A>T; p.T273S; 8:118110230-118110230

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1536+7G>A; p.?; 8:117819669-117819669

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.208C>G; p.Q70E; 8:118110839-118110839

 skinmalignant_melanomaSubstitution - Missense

c.208C>G; p.Q70E; 8:118110839-118110839

 ovaryother; neoplasmSubstitution - Missense

c.1974C>A; p.N658K; 8:117804803-117804803

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.208C>G; p.Q70E; 8:118110839-118110839

 ovaryother; neoplasmSubstitution - Missense

c.462T>A; p.F154L; 8:118110585-118110585

 skinmalignant_melanomaSubstitution - Missense

c.1761G>A; p.E587E; 8:117807339-117807339

 thyroidother; neoplasmSubstitution - coding silent

c.1761G>A; p.E587E; 8:117807339-117807339

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1199A>G; p.K400R; 8:117830315-117830315

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1389A>G; p.G463G; 8:117822493-117822493

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.856G>C; p.V286L; 8:118110191-118110191

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.295C>T; p.R99C; 8:118110752-118110752

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.742A>T; p.R248W; 8:118110305-118110305

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1860G>A; p.L620L; 8:117807240-117807240

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.1860G>A; p.L620L; 8:117807240-117807240

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1444G>A; p.A482T; 8:117819768-117819768

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1504G>T; p.V502L; 8:117819708-117819708

 livercarcinomaSubstitution - Missense

c.146C>A; p.P49H; 8:118110901-118110901

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1989T>C; p.A663A; 8:117804788-117804788

 thyroidcarcinomaSubstitution - coding silent

c.1846T>C; p.Y616H; 8:117807254-117807254

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.363G>A; p.Q121Q; 8:118110684-118110684

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.518A>G; p.N173S; 8:118110529-118110529

 livercarcinomaSubstitution - Missense

c.518A>G; p.N173S; 8:118110529-118110529

 livercarcinomaSubstitution - Missense

c.412A>G; p.I138V; 8:118110635-118110635

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1354T>G; p.L452V; 8:117822528-117822528

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.38C>A; p.A13D; 8:118111009-118111009

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.91T>C; p.S31P; 8:118110956-118110956

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.636C>T; p.G212G; 8:118110411-118110411

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1731C>T; p.F577F; 8:117807369-117807369

 skinmalignant_melanomaSubstitution - coding silent

c.1918G>A; p.A640T; 8:117804859-117804859

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.375G>T; p.E125D; 8:118110672-118110672

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1476_1477delTC; p.Q493fs*27; 8:117819735-117819736

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1476_1477delTC; p.Q493fs*27; 8:117819735-117819736

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1956T>G; p.C652W; 8:117804821-117804821

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2208G>A; p.L736L; 8:117799745-117799745

 breastcarcinomaSubstitution - coding silent

c.1217A>G; p.Q406R; 8:117830297-117830297

 central_nervous_system; braingliomaSubstitution - Missense

c.1702A>G; p.T568A; 8:117812892-117812892

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1712C>G; p.S571*; 8:117812882-117812882

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1666A>T; p.I556F; 8:117812928-117812928

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1074G>A; p.V358V; 8:117835534-117835534

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.242C>T; p.S81F; 8:118110805-118110805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.366A>C; p.Q122H; 8:118110681-118110681

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.452C>T; p.A151V; 8:118110595-118110595

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.14A>C; p.K5T; 8:118111033-118111033

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.233T>A; p.V78E; 8:118110814-118110814

 breastcarcinomaSubstitution - Missense

c.1896C>A; p.Y632*; 8:117804881-117804881

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.453G>A; p.A151A; 8:118110594-118110594

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.453G>A; p.A151A; 8:118110594-118110594

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.992C>T; p.A331V; 8:117837172-117837172

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1077G>A; p.M359I; 8:117835531-117835531

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1600G>T; p.V534L; 8:117818467-117818467

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1646G>A; p.R549H; 8:117812948-117812948

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.492C>G; p.D164E; 8:118110555-118110555

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1081A>C; p.S361R; 8:117835527-117835527

 livercarcinomaSubstitution - Missense

c.1897C>T; p.L633L; 8:117804880-117804880

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1081A>C; p.S361R; 8:117835527-117835527

 livercarcinomaSubstitution - Missense

c.949_957delACCGAGTAT; p.T317_Y319delTEY; 8:118110090-118110098

 breastcarcinomaDeletion - In frame

c.1457C>T; p.A486V; 8:117819755-117819755

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.200C>A; p.P67H; 8:118110847-118110847

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.415G>T; p.E139*; 8:118110632-118110632

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1563G>A; p.K521K; 8:117818504-117818504

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1988C>T; p.A663V; 8:117804789-117804789

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1988C>T; p.A663V; 8:117804789-117804789

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.290A>C; p.K97T; 8:118110757-118110757

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.308G>A; p.C103Y; 8:118110739-118110739

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.308G>A; p.C103Y; 8:118110739-118110739

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1485G>T; p.Q495H; 8:117819727-117819727

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1087G>T; p.G363*; 8:117835521-117835521

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1175C>T; p.T392I; 8:117830339-117830339

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1590_1591insC; p.A531fs*10; 8:117818476-117818477

 central_nervous_system; brainglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.1371G>T; p.Q457H; 8:117822511-117822511

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.918G>T; p.K306N; 8:118110129-118110129

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2003C>T; p.P668L; 8:117804774-117804774

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1699G>C; p.D567H; 8:117812895-117812895

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.379A>G; p.I127V; 8:118110668-118110668

 livercarcinomaSubstitution - Missense

c.379A>G; p.I127V; 8:118110668-118110668

 livercarcinomaSubstitution - Missense

')