Epithelial-Mesenchymal Transition gene database (dbEMT) Home
dbEMT
dbEMT 2.0
General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction

Basic Information

Gene ID

4017

Name

LOXL2

The somatic mutations from COSMIC database

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.714G>A; p.G238G; 8:23341021-23341021

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.376C>T; p.L126F; 8:23360245-23360245

skinmalignant_melanomaSubstitution - Missense

c.252C>T; p.C84C; 8:23368100-23368100

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.615C>T; p.Y205Y; 8:23341120-23341120

breastcarcinomaSubstitution - coding silent

c.709C>T; p.P237S; 8:23341026-23341026

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1661C>T; p.A554V; 8:23309887-23309887

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1590C>T; p.C530C; 8:23316995-23316995

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.565C>T; p.R189*; 8:23341170-23341170

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.463G>A; p.G155S; 8:23360158-23360158

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.565C>T; p.R189*; 8:23341170-23341170

skinmalignant_melanomaSubstitution - Nonsense

c.565C>T; p.R189*; 8:23341170-23341170

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1329C>G; p.P443P; 8:23320026-23320026

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1432C>G; p.R478G; 8:23319923-23319923

skinmalignant_melanomaSubstitution - Missense

c.160G>A; p.A54T; 8:23368192-23368192

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.160G>A; p.A54T; 8:23368192-23368192

urinary_tract; bladdercarcinomaSubstitution - Missense

c.939A>G; p.S313S; 8:23333428-23333428

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.160G>A; p.A54T; 8:23368192-23368192

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1696C>T; p.R566W; 8:23309852-23309852

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1696C>T; p.R566W; 8:23309852-23309852

central_nervous_system; braingliomaSubstitution - Missense

c.298C>A; p.L100M; 8:23368054-23368054

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1696C>T; p.R566W; 8:23309852-23309852

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1696C>T; p.R566W; 8:23309852-23309852

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1682C>T; p.T561I; 8:23309866-23309866

skinmalignant_melanomaSubstitution - Missense

c.1165C>T; p.H389Y; 8:23322267-23322267

skinmalignant_melanomaSubstitution - Missense

c.1508A>C; p.K503T; 8:23317077-23317077

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.2265G>A; p.E755E; 8:23298103-23298103

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1378T>G; p.W460G; 8:23319977-23319977

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1698G>A; p.R566R; 8:23309850-23309850

prostatecarcinomaSubstitution - coding silent

c.1416G>A; p.E472E; 8:23319939-23319939

skinmalignant_melanomaSubstitution - coding silent

c.1246C>T; p.H416Y; 8:23322186-23322186

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.757C>T; p.R253W; 8:23333610-23333610

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.757C>T; p.R253W; 8:23333610-23333610

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1618G>A; p.G540R; 8:23316967-23316967

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.668C>T; p.T223M; 8:23341067-23341067

pancreascarcinomaSubstitution - Missense

c.283G>A; p.V95I; 8:23368069-23368069

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.165G>T; p.K55N; 8:23368187-23368187

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1727A>C; p.E576A; 8:23309821-23309821

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.342C>A; p.Y114*; 8:23368010-23368010

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.861G>T; p.K287N; 8:23333506-23333506

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.512C>T; p.S171L; 8:23360109-23360109

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.512C>T; p.S171L; 8:23360109-23360109

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.512C>T; p.S171L; 8:23360109-23360109

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.512C>T; p.S171L; 8:23360109-23360109

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1751C>T; p.A584V; 8:23309797-23309797

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.84C>A; p.D28E; 8:23368268-23368268

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.685G>A; p.V229M; 8:23341050-23341050

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.685G>A; p.V229M; 8:23341050-23341050

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1599C>T; p.G533G; 8:23316986-23316986

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1599C>T; p.G533G; 8:23316986-23316986

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.865G>C; p.V289L; 8:23333502-23333502

kidneyother; neoplasmSubstitution - Missense

c.650T>G; p.I217S; 8:23341085-23341085

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1195G>C; p.E399Q; 8:23322237-23322237

skin; mucosalmalignant_melanomaSubstitution - Missense

c.855_856insC; p.M286fs*25; 8:23333511-23333512

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1347G>T; p.E449D; 8:23320008-23320008

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.285C>T; p.V95V; 8:23368067-23368067

skinmalignant_melanomaSubstitution - coding silent

c.1135T>C; p.S379P; 8:23328397-23328397

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1005_1006GG>AA; p.E336K; 8:23328526-23328527

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1005_1006GG>AA; p.E336K; 8:23328526-23328527

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2154C>T; p.F718F; 8:23298927-23298927

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2154C>T; p.F718F; 8:23298927-23298927

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2154C>T; p.F718F; 8:23298927-23298927

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2154C>T; p.F718F; 8:23298927-23298927

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1572C>T; p.D524D; 8:23317013-23317013

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2293G>T; p.G765W; 8:23298075-23298075

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.947G>A; p.R316Q; 8:23333420-23333420

skinmalignant_melanomaSubstitution - Missense

c.1567C>T; p.H523Y; 8:23317018-23317018

skinmalignant_melanomaSubstitution - Missense

c.2293G>T; p.G765W; 8:23298075-23298075

prostateadenomaSubstitution - Missense

c.2079C>T; p.I693I; 8:23302081-23302081

breastcarcinomaSubstitution - coding silent

c.452C>T; p.T151M; 8:23360169-23360169

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1726G>A; p.E576K; 8:23309822-23309822

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.616G>A; p.V206M; 8:23341119-23341119

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2318C>T; p.P773L; 8:23298050-23298050

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.954G>A; p.A318A; 8:23333413-23333413

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2220C>T; p.R740R; 8:23298861-23298861

livercarcinomaSubstitution - coding silent

c.2068C>T; p.R690C; 8:23302092-23302092

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.731C>T; p.T244I; 8:23341004-23341004

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2068C>T; p.R690C; 8:23302092-23302092

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.439G>A; p.D147N; 8:23360182-23360182

urinary_tract; bladdercarcinomaSubstitution - Missense

c.439G>A; p.D147N; 8:23360182-23360182

urinary_tract; bladdercarcinomaSubstitution - Missense

c.439G>A; p.D147N; 8:23360182-23360182

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2106C>T; p.D702D; 8:23302054-23302054

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1903T>C; p.F635L; 8:23303375-23303375

skinmalignant_melanomaSubstitution - Missense

c.930C>T; p.D310D; 8:23333437-23333437

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1758G>A; p.Q586Q; 8:23309790-23309790

NSmalignant_melanomaSubstitution - coding silent

c.1758G>A; p.Q586Q; 8:23309790-23309790

NSmalignant_melanomaSubstitution - coding silent

c.1619G>A; p.G540E; 8:23316966-23316966

skinmalignant_melanomaSubstitution - Missense

c.1619G>A; p.G540E; 8:23316966-23316966

skinmalignant_melanomaSubstitution - Missense

c.855C>T; p.P285P; 8:23333512-23333512

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1076C>T; p.S359L; 8:23328456-23328456

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1076C>T; p.S359L; 8:23328456-23328456

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1367G>A; p.G456E; 8:23319988-23319988

bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1570G>A; p.D524N; 8:23317015-23317015

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1447G>A; p.G483R; 8:23319908-23319908

skin; mucosalmalignant_melanomaSubstitution - Missense

c.630G>C; p.E210D; 8:23341105-23341105

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1774G>A; p.G592S; 8:23309774-23309774

skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.674A>C; p.K225T; 8:23341061-23341061

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1774G>A; p.G592S; 8:23309774-23309774

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1390T>C; p.C464R; 8:23319965-23319965

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1523G>A; p.G508E; 8:23317062-23317062

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.931G>A; p.G311R; 8:23333436-23333436

skinmalignant_melanomaSubstitution - Missense

c.931G>A; p.G311R; 8:23333436-23333436

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.453G>A; p.T151T; 8:23360168-23360168

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.592C>T; p.R198C; 8:23341143-23341143

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1689G>A; p.L563L; 8:23309859-23309859

skinmalignant_melanomaSubstitution - coding silent

c.1432C>T; p.R478C; 8:23319923-23319923

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1190G>T; p.G397V; 8:23322242-23322242

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1753G>A; p.A585T; 8:23309795-23309795

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.151G>A; p.A51T; 8:23368201-23368201

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.946C>T; p.R316W; 8:23333421-23333421

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.247G>A; p.V83M; 8:23368105-23368105

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.176G>T; p.R59L; 8:23368176-23368176

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.693C>T; p.C231C; 8:23341042-23341042

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1410C>T; p.I470I; 8:23319945-23319945

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1410C>T; p.I470I; 8:23319945-23319945

skinmalignant_melanomaSubstitution - coding silent

c.1289G>A; p.G430D; 8:23322143-23322143

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1462G>A; p.A488T; 8:23319893-23319893

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1462G>A; p.A488T; 8:23319893-23319893

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.710C>T; p.P237L; 8:23341025-23341025

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.933A>G; p.G311G; 8:23333434-23333434

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.477C>T; p.S159S; 8:23360144-23360144

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1318G>T; p.G440C; 8:23320037-23320037

oesophaguscarcinomaSubstitution - Missense

c.502T>C; p.F168L; 8:23360119-23360119

skinmalignant_melanomaSubstitution - Missense

c.157G>A; p.V53M; 8:23368195-23368195

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.695G>A; p.G232D; 8:23341040-23341040

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.789G>A; p.M263I; 8:23333578-23333578

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1557G>A; p.A519A; 8:23317028-23317028

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.398C>T; p.A133V; 8:23360223-23360223

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.63C>A; p.P21P; 8:23368289-23368289

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.2211C>T; p.D737D; 8:23298870-23298870

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1221C>A; p.F407L; 8:23322211-23322211

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1047C>T; p.T349T; 8:23328485-23328485

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1761C>T; p.T587T; 8:23309787-23309787

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.447G>C; p.K149N; 8:23360174-23360174

breastcarcinomaSubstitution - Missense

c.566G>A; p.R189Q; 8:23341169-23341169

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2028C>T; p.F676F; 8:23302132-23302132

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1094G>A; p.R365K; 8:23328438-23328438

skinmalignant_melanomaSubstitution - Missense

c.460G>T; p.V154F; 8:23360161-23360161

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1564C>T; p.R522C; 8:23317021-23317021

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1276A>C; p.T426P; 8:23322156-23322156

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1005G>A; p.G335G; 8:23328527-23328527

skinmalignant_melanomaSubstitution - coding silent

c.885A>G; p.L295L; 8:23333482-23333482

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.770G>A; p.R257H; 8:23333597-23333597

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1984G>A; p.E662K; 8:23303294-23303294

skinmalignant_melanomaSubstitution - Missense

c.2260G>A; p.E754K; 8:23298108-23298108

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2260G>A; p.E754K; 8:23298108-23298108

skinmalignant_melanomaSubstitution - Missense

c.29G>A; p.C10Y; 8:23368323-23368323

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.142_162del21; p.Q48_A54del; 8:23368190-23368210

breastcarcinoma; ductal_carcinomaDeletion - In frame

c.1155C>T; p.I385I; 8:23322277-23322277

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.432C>T; p.G144G; 8:23360189-23360189

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.432C>T; p.G144G; 8:23360189-23360189

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.215T>C; p.V72A; 8:23368137-23368137

skinmalignant_melanomaSubstitution - Missense

c.432C>T; p.G144G; 8:23360189-23360189

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.432C>T; p.G144G; 8:23360189-23360189

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.356-7C>A; p.?; 8:23360272-23360272

oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.719G>A; p.R240K; 8:23341016-23341016

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.271C>T; p.H91Y; 8:23368081-23368081

skinmalignant_melanomaSubstitution - Missense

c.719G>A; p.R240K; 8:23341016-23341016

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1821C>T; p.G607G; 8:23309727-23309727

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1821C>T; p.G607G; 8:23309727-23309727

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.874G>A; p.E292K; 8:23333493-23333493

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1581C>T; p.D527D; 8:23317004-23317004

livercarcinomaSubstitution - coding silent

c.990C>T; p.G330G; 8:23328542-23328542

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.384T>A; p.C128*; 8:23360237-23360237

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1427T>C; p.V476A; 8:23319928-23319928

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1370C>G; p.S457C; 8:23319985-23319985

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.490C>T; p.P164S; 8:23360131-23360131

skinmalignant_melanomaSubstitution - Missense

c.490C>T; p.P164S; 8:23360131-23360131

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.142_162del21; p.Q48_A54delQAPANVA; 8:23368190-23368210

breastcarcinoma; ductal_carcinomaDeletion - In frame

c.796A>G; p.T266A; 8:23333571-23333571

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1307G>A; p.R436H; 8:23320048-23320048

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.586C>T; p.R196C; 8:23341149-23341149

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.586C>T; p.R196C; 8:23341149-23341149

pancreascarcinomaSubstitution - Missense

c.992G>C; p.G331A; 8:23328540-23328540

skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.2070C>A; p.R690R; 8:23302090-23302090

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2187C>G; p.I729M; 8:23298894-23298894

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.2187C>G; p.I729M; 8:23298894-23298894

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1725G>A; p.M575I; 8:23309823-23309823

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.724T>C; p.Y242H; 8:23341011-23341011

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2069G>A; p.R690H; 8:23302091-23302091

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1611C>T; p.Y537Y; 8:23316974-23316974

breastcarcinomaSubstitution - coding silent

c.1827C>T; p.S609S; 8:23309721-23309721

skinmalignant_melanomaSubstitution - coding silent

c.1845C>T; p.N615N; 8:23309703-23309703

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.11C>T; p.P4L; 8:23368341-23368341

skinmalignant_melanomaSubstitution - Missense

c.253G>A; p.D85N; 8:23368099-23368099

skinmalignant_melanomaSubstitution - Missense

c.1618G>T; p.G540*; 8:23316967-23316967

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.211C>T; p.R71W; 8:23368141-23368141

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.918C>A; p.V306V; 8:23333449-23333449

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1311G>A; p.L437L; 8:23320044-23320044

breastcarcinomaSubstitution - coding silent

c.2276delA; p.K759fs*9; 8:23298092-23298092

oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.2276delA; p.K759fs*9; 8:23298092-23298092

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1038A>G; p.E346E; 8:23328494-23328494

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1038A>G; p.E346E; 8:23328494-23328494

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.758G>A; p.R253Q; 8:23333609-23333609

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.6G>T; p.E2D; 8:23368346-23368346

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1953C>T; p.G651G; 8:23303325-23303325

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.41C>T; p.A14V; 8:23368311-23368311

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.611G>A; p.G204D; 8:23341124-23341124

livercarcinomaSubstitution - Missense

c.611G>A; p.G204D; 8:23341124-23341124

livercarcinomaSubstitution - Missense

c.956A>G; p.Y319C; 8:23333411-23333411

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.694G>A; p.G232S; 8:23341041-23341041

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1357G>A; p.E453K; 8:23319998-23319998

skinmalignant_melanomaSubstitution - Missense

c.1748C>A; p.S583*; 8:23309800-23309800

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2158G>A; p.V720I; 8:23298923-23298923

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.684C>T; p.R228R; 8:23341051-23341051

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.120G>A; p.P40P; 8:23368232-23368232

thyroidother; neoplasmSubstitution - coding silent

c.120G>A; p.P40P; 8:23368232-23368232

thyroidother; neoplasmSubstitution - coding silent

c.1740C>T; p.L580L; 8:23309808-23309808

thyroidcarcinomaSubstitution - coding silent

c.156C>T; p.N52N; 8:23368196-23368196

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.433G>A; p.V145I; 8:23360188-23360188

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1461C>T; p.N487N; 8:23319894-23319894

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1043G>A; p.G348E; 8:23328489-23328489

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.84C>T; p.D28D; 8:23368268-23368268

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1417G>A; p.A473T; 8:23319938-23319938

skinmalignant_melanomaSubstitution - Missense

c.1199_1200insA; p.S401fs*149; 8:23322232-23322233

endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift


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