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

Basic Information

Gene ID

7158

Name

TP53BP1

The somatic mutations from COSMIC database

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.4186C>T; p.R1396C; 15:43421074-43421074

skinmalignant_melanomaSubstitution - Missense

c.2489C>T; p.S830F; 15:43456104-43456104

skinmalignant_melanomaSubstitution - Missense

c.3483G>C; p.L1161F; 15:43432371-43432371

breastcarcinomaSubstitution - Missense

c.1142C>T; p.P381L; 15:43474696-43474696

NSmalignant_melanomaSubstitution - Missense

c.1142C>T; p.P381L; 15:43474696-43474696

NSmalignant_melanomaSubstitution - Missense

c.857A>G; p.E286G; 15:43477676-43477676

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1043G>A; p.R348K; 15:43475592-43475592

breastcarcinomaSubstitution - Missense

c.3416C>A; p.P1139H; 15:43432438-43432438

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3493G>A; p.E1165K; 15:43432361-43432361

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1329C>T; p.F443F; 15:43469903-43469903

skinmalignant_melanomaSubstitution - coding silent

c.221G>A; p.G74E; 15:43492052-43492052

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2130delA; p.E711fs*12; 15:43456463-43456463

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3050delA; p.N1017fs*20; 15:43441559-43441559

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2261C>T; p.S754F; 15:43456332-43456332

skinmalignant_melanomaSubstitution - Missense

c.3607G>T; p.G1203C; 15:43432247-43432247

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2926G>T; p.G976W; 15:43446486-43446486

thyroidcarcinomaSubstitution - Missense

c.1663C>G; p.L555V; 15:43456930-43456930

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.670G>A; p.E224K; 15:43479500-43479500

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.670G>A; p.E224K; 15:43479500-43479500

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2821+5G>A; p.?; 15:43447361-43447361

breastcarcinomaUnknown

c.4459G>A; p.V1487I; 15:43420512-43420512

breastcarcinomaSubstitution - Missense

c.5497G>A; p.D1833N; 15:43408985-43408985

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.860G>T; p.S287I; 15:43477673-43477673

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2319A>T; p.E773D; 15:43456274-43456274

breastcarcinomaSubstitution - Missense

c.5342G>A; p.R1781Q; 15:43409690-43409690

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.14G>A; p.G5E; 15:43492447-43492447

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3651C>T; p.L1217L; 15:43432203-43432203

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.4569C>T; p.Y1523Y; 15:43420402-43420402

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1494G>T; p.K498N; 15:43457099-43457099

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4569C>T; p.Y1523Y; 15:43420402-43420402

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.14G>A; p.G5E; 15:43492447-43492447

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.445G>T; p.D149Y; 15:43480934-43480934

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2189A>C; p.K730T; 15:43456404-43456404

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4501T>G; p.F1501V; 15:43420470-43420470

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1786G>T; p.D596Y; 15:43456807-43456807

ovaryother; neoplasmSubstitution - Missense

c.1297T>C; p.S433P; 15:43469935-43469935

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1294G>A; p.A432T; 15:43469938-43469938

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3128G>T; p.R1043M; 15:43438372-43438372

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1234G>C; p.G412R; 15:43469998-43469998

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.5431C>T; p.R1811*; 15:43409051-43409051

prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.5291-8delT; p.?; 15:43409749-43409749

livercarcinomaUnknown

c.471C>T; p.S157S; 15:43480908-43480908

skinmalignant_melanomaSubstitution - coding silent

c.695C>T; p.S232F; 15:43479475-43479475

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.40C>T; p.Q14*; 15:43492421-43492421

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2130_2131insA; p.E711fs*9; 15:43456462-43456463

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.309delC; p.I104fs*95; 15:43491716-43491716

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3586G>A; p.V1196I; 15:43432268-43432268

skin; trunkmalignant_melanomaSubstitution - Missense

c.1900C>T; p.R634*; 15:43456693-43456693

skinmalignant_melanomaSubstitution - Nonsense

c.3606T>C; p.S1202S; 15:43432248-43432248

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1900C>T; p.R634*; 15:43456693-43456693

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3667G>T; p.E1223*; 15:43428162-43428162

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3687G>A; p.Q1229Q; 15:43428142-43428142

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.959C>G; p.S320C; 15:43475676-43475676

pancreascarcinomaSubstitution - Missense

c.3001G>T; p.E1001*; 15:43446411-43446411

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2551C>T; p.Q851*; 15:43456042-43456042

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.4439C>T; p.S1480F; 15:43420532-43420532

skin; extremitymalignant_melanomaSubstitution - Missense

c.5417C>T; p.A1806V; 15:43409065-43409065

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1222A>G; p.K408E; 15:43470010-43470010

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.163G>T; p.E55*; 15:43492298-43492298

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.4396C>T; p.P1466S; 15:43420575-43420575

skinmalignant_melanomaSubstitution - Missense

c.2554C>T; p.Q852*; 15:43456039-43456039

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.163G>T; p.E55*; 15:43492298-43492298

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5537A>G; p.Y1846C; 15:43408945-43408945

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.4904C>T; p.S1635F; 15:43415764-43415764

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.5573G>T; p.R1858I; 15:43408909-43408909

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5573G>T; p.R1858I; 15:43408909-43408909

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1102G>A; p.D368N; 15:43474736-43474736

parathyroidcarcinomaSubstitution - Missense

c.2209G>T; p.E737*; 15:43456384-43456384

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1643C>T; p.T548M; 15:43456950-43456950

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.5058T>A; p.S1686S; 15:43415610-43415610

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.657A>G; p.E219E; 15:43479513-43479513

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.5058T>A; p.S1686S; 15:43415610-43415610

thyroidother; neoplasmSubstitution - coding silent

c.2209G>T; p.E737*; 15:43456384-43456384

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.5774C>T; p.S1925L; 15:43407528-43407528

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3902A>C; p.D1301A; 15:43422038-43422038

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5575A>G; p.I1859V; 15:43408907-43408907

central_nervous_system; braingliomaSubstitution - Missense

c.5418G>A; p.A1806A; 15:43409064-43409064

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.5407C>T; p.L1803F; 15:43409075-43409075

stomachadenocarcinomaSubstitution - Missense

c.4667-6C>T; p.?; 15:43416422-43416422

skinmalignant_melanomaUnknown

c.1087G>T; p.V363F; 15:43474751-43474751

breastcarcinomaSubstitution - Missense

c.4667-6C>T; p.?; 15:43416422-43416422

skinmalignant_melanomaUnknown

c.1216C>T; p.Q406*; 15:43470016-43470016

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.4927A>G; p.S1643G; 15:43415741-43415741

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3977G>A; p.S1326N; 15:43421963-43421963

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4673T>G; p.V1558G; 15:43416410-43416410

breastcarcinomaSubstitution - Missense

c.177+7G>A; p.?; 15:43492277-43492277

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.177+7G>A; p.?; 15:43492277-43492277

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.2501C>T; p.S834F; 15:43456092-43456092

skinmalignant_melanomaSubstitution - Missense

c.2149G>T; p.E717*; 15:43456444-43456444

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.5767G>A; p.D1923N; 15:43407535-43407535

skinmalignant_melanomaSubstitution - Missense

c.5767G>A; p.D1923N; 15:43407535-43407535

skinmalignant_melanomaSubstitution - Missense

c.3928T>C; p.S1310P; 15:43422012-43422012

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.357-1G>C; p.?; 15:43481023-43481023

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.3593C>T; p.T1198I; 15:43432261-43432261

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.4652A>G; p.E1551G; 15:43420319-43420319

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1448C>T; p.S483L; 15:43457145-43457145

skinmalignant_melanomaSubstitution - Missense

c.1402G>T; p.E468*; 15:43457191-43457191

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.2002C>T; p.P668S; 15:43456591-43456591

skinmalignant_melanomaSubstitution - Missense

c.2002C>T; p.P668S; 15:43456591-43456591

skinmalignant_melanomaSubstitution - Missense

c.5448C>T; p.F1816F; 15:43409034-43409034

breastcarcinomaSubstitution - coding silent

c.211G>A; p.E71K; 15:43492062-43492062

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3722G>T; p.R1241I; 15:43428107-43428107

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4994C>T; p.S1665L; 15:43415674-43415674

breastcarcinomaSubstitution - Missense

c.4288T>C; p.S1430P; 15:43420683-43420683

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1071-1G>T; p.?; 15:43474768-43474768

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.4338C>A; p.S1446S; 15:43420633-43420633

thyroidcarcinomaSubstitution - coding silent

c.3820G>T; p.E1274*; 15:43422120-43422120

central_nervous_system; braingliomaSubstitution - Nonsense

c.4569C>A; p.Y1523*; 15:43420402-43420402

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2702-4_2702-3insT; p.?; 15:43447488-43447489

central_nervous_system; brainglioma; oligoastrocytoma_Grade_IIIUnknown

c.2702-4_2702-3insT; p.?; 15:43447488-43447489

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.2176G>T; p.D726Y; 15:43456417-43456417

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4655A>G; p.Y1552C; 15:43420316-43420316

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.5812C>T; p.Q1938*; 15:43407490-43407490

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.4747C>T; p.R1583*; 15:43416336-43416336

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.4401C>T; p.F1467F; 15:43420570-43420570

skinmalignant_melanomaSubstitution - coding silent

c.1471A>T; p.K491*; 15:43457122-43457122

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.4733G>T; p.R1578I; 15:43416350-43416350

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5243G>A; p.R1748H; 15:43413166-43413166

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1971G>A; p.E657E; 15:43456622-43456622

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1971G>A; p.E657E; 15:43456622-43456622

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1500C>T; p.S500S; 15:43457093-43457093

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1500C>T; p.S500S; 15:43457093-43457093

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2811T>C; p.S937S; 15:43447376-43447376

breastcarcinomaSubstitution - coding silent

c.412G>T; p.E138*; 15:43480967-43480967

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3881delG; p.G1294fs*68; 15:43422059-43422059

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.5888C>T; p.P1963L; 15:43407414-43407414

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2889_2890CC>TT; p.H964Y; 15:43446522-43446523

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2731G>T; p.E911*; 15:43447456-43447456

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2680A>C; p.S894R; 15:43455913-43455913

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1645G>A; p.E549K; 15:43456948-43456948

skinmalignant_melanomaSubstitution - Missense

c.4038C>A; p.P1346P; 15:43421902-43421902

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.5444A>G; p.Y1815C; 15:43409038-43409038

breastcarcinomaSubstitution - Missense

c.4351G>T; p.D1451Y; 15:43420620-43420620

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.4850T>G; p.I1617S; 15:43416233-43416233

breastcarcinomaSubstitution - Missense

c.3080C>G; p.A1027G; 15:43441529-43441529

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.5313C>G; p.F1771L; 15:43409719-43409719

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.4490C>T; p.S1497F; 15:43420481-43420481

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4362T>A; p.A1454A; 15:43420609-43420609

skinmalignant_melanomaSubstitution - coding silent

c.4027G>T; p.G1343W; 15:43421913-43421913

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5029C>T; p.R1677W; 15:43415639-43415639

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2496G>A; p.Q832Q; 15:43456097-43456097

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.5771C>T; p.P1924L; 15:43407531-43407531

skin; trunkmalignant_melanomaSubstitution - Missense

c.2001C>A; p.I667I; 15:43456592-43456592

skinmalignant_melanomaSubstitution - coding silent

c.4510G>T; p.G1504W; 15:43420461-43420461

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1681C>T; p.P561S; 15:43456912-43456912

skinmalignant_melanomaSubstitution - Missense

c.4510G>T; p.G1504W; 15:43420461-43420461

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.762A>G; p.P254P; 15:43479408-43479408

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.256G>T; p.E86*; 15:43492017-43492017

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2935C>T; p.P979S; 15:43446477-43446477

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.484+1G>A; p.?; 15:43480894-43480894

lungcarcinoma; adenocarcinomaUnknown

c.5765C>A; p.T1922K; 15:43407537-43407537

soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.1234G>A; p.G412S; 15:43469998-43469998

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2689G>T; p.E897*; 15:43455904-43455904

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.5833G>C; p.E1945Q; 15:43407469-43407469

breastcarcinomaSubstitution - Missense

c.1234G>A; p.G412S; 15:43469998-43469998

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1234G>A; p.G412S; 15:43469998-43469998

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2689G>T; p.E897*; 15:43455904-43455904

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.919T>C; p.F307L; 15:43477614-43477614

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.919T>C; p.F307L; 15:43477614-43477614

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2185C>T; p.Q729*; 15:43456408-43456408

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.4957_4960ATCA>TCCT; p.I1653_T1654>SS; 15:43415708-43415711

lungcarcinoma; non_small_cell_carcinomaComplex - compound substitution

c.3420T>C; p.S1140S; 15:43432434-43432434

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1577delC; p.P526fs*6; 15:43457016-43457016

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.5867G>T; p.R1956I; 15:43407435-43407435

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1604G>T; p.R535I; 15:43456989-43456989

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.964C>T; p.P322S; 15:43475671-43475671

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2600C>A; p.S867*; 15:43455993-43455993

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.5030G>A; p.R1677Q; 15:43415638-43415638

pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.4970C>T; p.P1657L; 15:43415698-43415698

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1625A>T; p.N542I; 15:43456968-43456968

livercarcinomaSubstitution - Missense

c.5348G>C; p.G1783A; 15:43409684-43409684

breastcarcinomaSubstitution - Missense

c.225C>A; p.D75E; 15:43492048-43492048

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.3235G>T; p.G1079C; 15:43432619-43432619

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2038A>T; p.K680*; 15:43456555-43456555

prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.3056C>T; p.S1019F; 15:43441553-43441553

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1375-2A>G; p.?; 15:43457220-43457220

stomachadenocarcinomaUnknown

c.5050C>T; p.R1684C; 15:43415618-43415618

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3056C>T; p.S1019F; 15:43441553-43441553

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.4324C>T; p.R1442*; 15:43420647-43420647

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3358A>G; p.M1120V; 15:43432496-43432496

kidneyother; neoplasmSubstitution - Missense

c.2924C>T; p.S975F; 15:43446488-43446488

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.5197G>A; p.A1733T; 15:43413212-43413212

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2886G>A; p.E962E; 15:43446526-43446526

thyroidcarcinomaSubstitution - coding silent

c.1143C>A; p.P381P; 15:43474695-43474695

pancreascarcinomaSubstitution - coding silent

c.337C>A; p.Q113K; 15:43491688-43491688

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1516C>T; p.L506L; 15:43457077-43457077

skinmalignant_melanomaSubstitution - coding silent

c.4697G>T; p.G1566V; 15:43416386-43416386

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1176G>T; p.M392I; 15:43470056-43470056

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5451G>T; p.L1817L; 15:43409031-43409031

breastcarcinomaSubstitution - coding silent

c.1076C>A; p.S359Y; 15:43474762-43474762

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.4639C>G; p.L1547V; 15:43420332-43420332

prostatecarcinomaSubstitution - Missense

c.4545T>G; p.Y1515*; 15:43420426-43420426

pancreasother; adenomaSubstitution - Nonsense

c.2742C>T; p.I914I; 15:43447445-43447445

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1651A>T; p.M551L; 15:43456942-43456942

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2185C>G; p.Q729E; 15:43456408-43456408

breastcarcinomaSubstitution - Missense

c.2839G>A; p.E947K; 15:43446573-43446573

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5544G>T; p.L1848F; 15:43408938-43408938

pancreascarcinomaSubstitution - Missense

c.5768A>G; p.D1923G; 15:43407534-43407534

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3146G>A; p.R1049Q; 15:43438354-43438354

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3611A>T; p.E1204V; 15:43432243-43432243

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3729C>T; p.I1243I; 15:43428100-43428100

skinmalignant_melanomaSubstitution - coding silent

c.1780A>G; p.R594G; 15:43456813-43456813

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.616A>T; p.R206W; 15:43479886-43479886

breastcarcinomaSubstitution - Missense

c.3026-1G>A; p.?; 15:43441584-43441584

central_nervous_system; temporoparietalglioma; astrocytoma_Grade_IVUnknown

c.4921G>A; p.A1641T; 15:43415747-43415747

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2487T>C; p.D829D; 15:43456106-43456106

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.992_997delTGGCTT; p.L331_A332delLA; 15:43475638-43475643

ovarycarcinoma; serous_carcinomaDeletion - In frame

c.2487T>C; p.D829D; 15:43456106-43456106

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2487T>C; p.D829D; 15:43456106-43456106

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.4198C>T; p.R1400*; 15:43421062-43421062

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.4976C>T; p.A1659V; 15:43415692-43415692

skin; trunkmalignant_melanomaSubstitution - Missense

c.4198C>T; p.R1400*; 15:43421062-43421062

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.3030T>C; p.P1010P; 15:43441579-43441579

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2630C>G; p.S877*; 15:43455963-43455963

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.2487T>G; p.D829E; 15:43456106-43456106

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.989C>T; p.S330F; 15:43475646-43475646

skinmalignant_melanomaSubstitution - Missense

c.847G>T; p.E283*; 15:43477686-43477686

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.117C>T; p.H39H; 15:43492344-43492344

skinmalignant_melanomaSubstitution - coding silent

c.3517A>T; p.T1173S; 15:43432337-43432337

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.5449C>A; p.L1817M; 15:43409033-43409033

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3219G>T; p.E1073D; 15:43432635-43432635

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2447T>G; p.L816R; 15:43456146-43456146

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2810G>A; p.S937N; 15:43447377-43447377

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.273C>T; p.D91D; 15:43491752-43491752

skinmalignant_melanomaSubstitution - coding silent

c.2300G>A; p.R767K; 15:43456293-43456293

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2916A>C; p.K972N; 15:43446496-43446496

skinmalignant_melanomaSubstitution - Missense

c.4717G>C; p.E1573Q; 15:43416366-43416366

breastcarcinomaSubstitution - Missense

c.3470T>G; p.M1157R; 15:43432384-43432384

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.4312C>A; p.R1438S; 15:43420659-43420659

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2062C>T; p.P688S; 15:43456531-43456531

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2062C>T; p.P688S; 15:43456531-43456531

skin; legmalignant_melanomaSubstitution - Missense

c.2062C>T; p.P688S; 15:43456531-43456531

skin; legmalignant_melanomaSubstitution - Missense

c.850C>G; p.L284V; 15:43477683-43477683

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2435A>G; p.Y812C; 15:43456158-43456158

prostateadenomaSubstitution - Missense

c.5287G>A; p.E1763K; 15:43413122-43413122

skin; mucosalmalignant_melanomaSubstitution - Missense

c.4723G>T; p.E1575*; 15:43416360-43416360

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.5043G>A; p.K1681K; 15:43415625-43415625

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.472C>T; p.L158F; 15:43480907-43480907

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.5181C>G; p.T1727T; 15:43413228-43413228

pancreascarcinomaSubstitution - coding silent

c.1198G>A; p.E400K; 15:43470034-43470034

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3814G>A; p.E1272K; 15:43422126-43422126

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1716A>T; p.A572A; 15:43456877-43456877

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.5432G>A; p.R1811Q; 15:43409050-43409050

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.5528A>G; p.Y1843C; 15:43408954-43408954

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.156G>A; p.T52T; 15:43492305-43492305

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.4994C>G; p.S1665*; 15:43415674-43415674

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2919G>T; p.G973G; 15:43446493-43446493

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.4665A>T; p.A1555A; 15:43420306-43420306

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - coding silent

c.4313G>A; p.R1438H; 15:43420658-43420658

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3712C>T; p.R1238C; 15:43428117-43428117

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3712C>T; p.R1238C; 15:43428117-43428117

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2975T>G; p.V992G; 15:43446437-43446437

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.5291-2A>G; p.?; 15:43409743-43409743

stomachcarcinoma; adenocarcinomaUnknown

c.1059C>G; p.D353E; 15:43475576-43475576

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1059C>G; p.D353E; 15:43475576-43475576

livercarcinomaSubstitution - Missense

c.1059C>G; p.D353E; 15:43475576-43475576

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1059C>G; p.D353E; 15:43475576-43475576

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.632A>G; p.D211G; 15:43479870-43479870

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3961C>T; p.L1321F; 15:43421979-43421979

skinmalignant_melanomaSubstitution - Missense

c.3543G>A; p.G1181G; 15:43432311-43432311

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1970_1972delAGG; p.E657delE; 15:43456621-43456623

endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.4003G>A; p.G1335R; 15:43421937-43421937

pancreascarcinomaSubstitution - Missense

c.3854C>G; p.T1285S; 15:43422086-43422086

salivary_gland; mouth_roofcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.2238G>A; p.W746*; 15:43456355-43456355

oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.5741T>C; p.L1914S; 15:43407561-43407561

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1356C>T; p.S452S; 15:43469876-43469876

skinmalignant_melanomaSubstitution - coding silent

c.1999A>T; p.I667F; 15:43456594-43456594

skinmalignant_melanomaSubstitution - Missense

c.4788G>C; p.L1596L; 15:43416295-43416295

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.5625C>G; p.L1875L; 15:43408049-43408049

breastcarcinomaSubstitution - coding silent

c.5855T>C; p.I1952T; 15:43407447-43407447

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1499C>T; p.S500F; 15:43457094-43457094

skin; trunkmalignant_melanomaSubstitution - Missense

c.4903T>C; p.S1635P; 15:43415765-43415765

pancreasNSSubstitution - Missense

c.5732-1G>T; p.?; 15:43407571-43407571

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.4544A>C; p.Y1515S; 15:43420427-43420427

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1128C>T; p.I376I; 15:43474710-43474710

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.178G>A; p.D60N; 15:43492095-43492095

skinmalignant_melanomaSubstitution - Missense

c.1942A>G; p.M648V; 15:43456651-43456651

breastcarcinomaSubstitution - Missense

c.2926G>A; p.G976R; 15:43446486-43446486

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3335C>T; p.P1112L; 15:43432519-43432519

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1904C>T; p.S635F; 15:43456689-43456689

breastcarcinomaSubstitution - Missense

c.3740G>A; p.R1247H; 15:43428089-43428089

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2993C>T; p.A998V; 15:43446419-43446419

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.4037C>T; p.P1346L; 15:43421903-43421903

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3941G>A; p.R1314H; 15:43421999-43421999

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4026C>T; p.S1342S; 15:43421914-43421914

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1180A>T; p.T394S; 15:43470052-43470052

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4661G>A; p.S1554N; 15:43420310-43420310

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2036T>A; p.L679H; 15:43456557-43456557

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2300G>T; p.R767I; 15:43456293-43456293

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1070+4A>C; p.?; 15:43475561-43475561

livercarcinomaUnknown

c.3549T>A; p.S1183R; 15:43432305-43432305

skin; neckmalignant_melanomaSubstitution - Missense

c.692_693AG>TA; p.Q231L; 15:43479477-43479478

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3055T>A; p.S1019T; 15:43441554-43441554

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.760C>T; p.P254S; 15:43479410-43479410

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1988A>G; p.E663G; 15:43456605-43456605

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5035C>T; p.P1679S; 15:43415633-43415633

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.4199G>A; p.R1400Q; 15:43421061-43421061

skinmalignant_melanomaSubstitution - Missense

c.878A>T; p.K293M; 15:43477655-43477655

skinmalignant_melanomaSubstitution - Missense

c.2130A>C; p.K710N; 15:43456463-43456463

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5003G>T; p.R1668I; 15:43415665-43415665

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5003G>T; p.R1668I; 15:43415665-43415665

breastcarcinomaSubstitution - Missense

c.5797_5806del10; p.C1933fs*12; 15:43407496-43407505

stomachcarcinoma; diffuse_adenocarcinomaDeletion - Frameshift

c.3917C>T; p.S1306F; 15:43422023-43422023

skinmalignant_melanomaSubstitution - Missense

c.5003G>T; p.R1668I; 15:43415665-43415665

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2397G>T; p.E799D; 15:43456196-43456196

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5026G>C; p.E1676Q; 15:43415642-43415642

thyroidother; neoplasmSubstitution - Missense

c.2044G>T; p.E682*; 15:43456549-43456549

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1435G>A; p.D479N; 15:43457158-43457158

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1648C>T; p.P550S; 15:43456945-43456945

skinmalignant_melanomaSubstitution - Missense

c.3692C>T; p.P1231L; 15:43428137-43428137

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2352C>T; p.S784S; 15:43456241-43456241

skinmalignant_melanomaSubstitution - coding silent

c.4541A>C; p.K1514T; 15:43420430-43420430

livercarcinomaSubstitution - Missense

c.3083G>T; p.S1028I; 15:43441526-43441526

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5455C>T; p.L1819F; 15:43409027-43409027

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3406A>C; p.K1136Q; 15:43432448-43432448

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3406A>C; p.K1136Q; 15:43432448-43432448

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.3406A>C; p.K1136Q; 15:43432448-43432448

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2994G>A; p.A998A; 15:43446418-43446418

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2291C>T; p.P764L; 15:43456302-43456302

skinmalignant_melanomaSubstitution - Missense

c.1262delC; p.P421fs*65; 15:43469970-43469970

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.4019A>G; p.K1340R; 15:43421921-43421921

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.4748G>T; p.R1583L; 15:43416335-43416335

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.115C>T; p.H39Y; 15:43492346-43492346

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5273G>T; p.S1758I; 15:43413136-43413136

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.115C>T; p.H39Y; 15:43492346-43492346

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.4063C>T; p.R1355*; 15:43421877-43421877

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.751G>T; p.E251*; 15:43479419-43479419

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.115C>T; p.H39Y; 15:43492346-43492346

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1746T>C; p.N582N; 15:43456847-43456847

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1746T>C; p.N582N; 15:43456847-43456847

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1746T>C; p.N582N; 15:43456847-43456847

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1347_1352delTATCCC; p.I450_P451delIP; 15:43469880-43469885

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.5051G>A; p.R1684H; 15:43415617-43415617

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.5867G>A; p.R1956K; 15:43407435-43407435

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.3770T>C; p.V1257A; 15:43428059-43428059

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1887G>A; p.P629P; 15:43456706-43456706

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent


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