| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5168 |
Name | ENPP2 |
Synonymous | ectonucleotide pyrophosphatase/phosphodiesterase 2;ENPP2;ectonucleotide pyrophosphatase/phosphodiesterase 2 |
Definition | E-NPP 2|autotaxin-t|ectonucleotide pyrophosphatase/phosphodiesterase family member 2|extracellular lysophospholipase D|phosphodiesterase I/nucleotide pyrophosphatase 2|plasma lysophospholipase D |
Position | 8q24.1 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2294G>A; p.W765*; 8:119564949-119564949 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2294G>A; p.W765*; 8:119564949-119564949 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1099C>T; p.H367Y; 8:119595876-119595876 |
breast | carcinoma | Substitution - Missense |
c.353G>A; p.C118Y; 8:119621459-119621459 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.723T>G; p.T241T; 8:119616319-119616319 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.963C>T; p.F321F; 8:119600687-119600687 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1909C>T; p.R637W; 8:119580143-119580143 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1909C>T; p.R637W; 8:119580143-119580143 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1754A>G; p.H585R; 8:119582548-119582548 |
breast | carcinoma | Substitution - Missense |
c.1336C>T; p.R446*; 8:119590532-119590532 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1336C>T; p.R446*; 8:119590532-119590532 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1336C>T; p.R446*; 8:119590532-119590532 |
breast | carcinoma | Substitution - Nonsense |
c.2453C>G; p.T818S; 8:119562981-119562981 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2675G>A; p.R892Q; 8:119557594-119557594 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.2675G>A; p.R892Q; 8:119557594-119557594 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2520T>C; p.P840P; 8:119562914-119562914 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1856G>T; p.C619F; 8:119582446-119582446 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2157T>A; p.C719*; 8:119569287-119569287 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1565T>A; p.F522Y; 8:119584008-119584008 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2520T>C; p.P840P; 8:119562914-119562914 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.870G>T; p.L290F; 8:119601426-119601426 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.776C>T; p.P259L; 8:119616266-119616266 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2263G>A; p.V755I; 8:119568199-119568199 |
ovary | other; neoplasm | Substitution - Missense |
c.2515G>A; p.G839S; 8:119562919-119562919 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1306A>G; p.T436A; 8:119590562-119590562 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2525C>G; p.S842C; 8:119562909-119562909 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2525C>G; p.S842C; 8:119562909-119562909 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.664T>C; p.Y222H; 8:119616378-119616378 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1128+3A>T; p.?; 8:119595844-119595844 |
ovary | other; neoplasm | Unknown |
c.1128+3A>T; p.?; 8:119595844-119595844 |
ovary | other; neoplasm | Unknown |
c.1158A>C; p.K386N; 8:119593831-119593831 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.728A>G; p.H243R; 8:119616314-119616314 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1463C>T; p.A488V; 8:119586246-119586246 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1243G>A; p.E415K; 8:119590625-119590625 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1573G>A; p.G525R; 8:119584000-119584000 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2616G>A; p.M872I; 8:119557653-119557653 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.905C>T; p.S302L; 8:119600745-119600745 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.905C>T; p.S302L; 8:119600745-119600745 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.240T>G; p.C80W; 8:119626617-119626617 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1702C>A; p.L568I; 8:119582600-119582600 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2404G>A; p.E802K; 8:119564839-119564839 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.975G>T; p.E325D; 8:119596000-119596000 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1504C>T; p.R502C; 8:119586205-119586205 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1504C>T; p.R502C; 8:119586205-119586205 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1261A>G; p.R421G; 8:119590607-119590607 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2562C>A; p.N854K; 8:119562872-119562872 |
thyroid | carcinoma | Substitution - Missense |
c.1677T>C; p.I559I; 8:119583739-119583739 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.377C>G; p.A126G; 8:119621435-119621435 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1529C>T; p.P510L; 8:119584044-119584044 |
skin | malignant_melanoma | Substitution - Missense |
c.2168A>C; p.K723T; 8:119569276-119569276 |
breast | carcinoma | Substitution - Missense |
c.1529C>T; p.P510L; 8:119584044-119584044 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1231G>A; p.D411N; 8:119593758-119593758 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.939C>A; p.F313L; 8:119600711-119600711 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.659G>A; p.G220E; 8:119616383-119616383 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.537G>T; p.M179I; 8:119617506-119617506 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.419-8C>T; p.?; 8:119619312-119619312 |
skin; head_neck | malignant_melanoma; superficial_spreading | Unknown |
c.524G>A; p.R175H; 8:119617519-119617519 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.777G>A; p.P259P; 8:119616265-119616265 |
pancreas | carcinoma | Substitution - coding silent |
c.2538C>T; p.F846F; 8:119562896-119562896 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.2615T>C; p.M872T; 8:119557654-119557654 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.2695C>T; p.P899S; 8:119557574-119557574 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1189C>G; p.Q397E; 8:119593800-119593800 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.766G>A; p.G256R; 8:119616276-119616276 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.614T>C; p.V205A; 8:119617207-119617207 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2300A>G; p.Y767C; 8:119564943-119564943 |
stomach | adenocarcinoma | Substitution - Missense |
c.507C>A; p.F169L; 8:119617536-119617536 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2679G>C; p.K893N; 8:119557590-119557590 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1743A>T; p.G581G; 8:119582559-119582559 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.136G>A; p.V46M; 8:119638425-119638425 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1166G>A; p.G389E; 8:119593823-119593823 |
liver | carcinoma | Substitution - Missense |
c.62G>A; p.G21E; 8:119638499-119638499 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.780A>G; p.L260L; 8:119607975-119607975 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.69T>C; p.N23N; 8:119638492-119638492 |
thyroid | carcinoma | Substitution - coding silent |
c.1568delT; p.F523fs*19; 8:119584005-119584005 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1166G>A; p.G389E; 8:119593823-119593823 |
liver | carcinoma | Substitution - Missense |
c.1740T>C; p.H580H; 8:119582562-119582562 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1740T>C; p.H580H; 8:119582562-119582562 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1417T>A; p.F473I; 8:119586292-119586292 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2382C>T; p.D794D; 8:119564861-119564861 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.152C>T; p.P51L; 8:119626705-119626705 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.283T>G; p.L95V; 8:119626574-119626574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.302G>T; p.W101L; 8:119621510-119621510 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2117G>A; p.R706Q; 8:119569327-119569327 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2634G>A; p.R878R; 8:119557635-119557635 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.970G>A; p.E324K; 8:119600680-119600680 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1611+2T>C; p.?; 8:119583960-119583960 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.2084C>A; p.S695Y; 8:119569360-119569360 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2352C>T; p.N784N; 8:119564891-119564891 |
NS | malignant_melanoma | Substitution - coding silent |
c.1068G>A; p.K356K; 8:119595907-119595907 |
skin | malignant_melanoma | Substitution - coding silent |
c.1070A>G; p.K357R; 8:119595905-119595905 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1070A>G; p.K357R; 8:119595905-119595905 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2147G>A; p.S716N; 8:119569297-119569297 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.491_492CT>TA; p.P164L; 8:119617551-119617552 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1369C>T; p.P457S; 8:119587070-119587070 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1924G>A; p.G642R; 8:119580128-119580128 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.241_242insT; p.K81fs*9; 8:119626615-119626616 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.2187C>T; p.S729S; 8:119569257-119569257 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.541A>T; p.K181*; 8:119617502-119617502 |
autonomic_ganglia | neuroblastoma | Substitution - Nonsense |
c.2510G>A; p.C837Y; 8:119562924-119562924 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2275C>G; p.P759A; 8:119568187-119568187 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1562G>T; p.C521F; 8:119584011-119584011 |
breast | carcinoma | Substitution - Missense |
c.2198T>C; p.L733P; 8:119569246-119569246 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.958C>A; p.P320T; 8:119600692-119600692 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.590C>T; p.T197I; 8:119617231-119617231 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2679G>A; p.K893K; 8:119557590-119557590 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1204delC; p.R402fs*24; 8:119593785-119593785 |
pleura | pulmonary_blastoma | Deletion - Frameshift |
c.2679G>A; p.K893K; 8:119557590-119557590 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.419G>A; p.G140E; 8:119619304-119619304 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2589C>T; p.D863D; 8:119557680-119557680 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1152C>T; p.I384I; 8:119593837-119593837 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1228G>A; p.G410R; 8:119593761-119593761 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1537G>A; p.V513I; 8:119584036-119584036 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1109C>T; p.A370V; 8:119595866-119595866 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1109C>T; p.A370V; 8:119595866-119595866 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1545G>T; p.K515N; 8:119584028-119584028 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2373C>T; p.F791F; 8:119564870-119564870 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1642A>G; p.K548E; 8:119583774-119583774 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.113G>A; p.G38E; 8:119638448-119638448 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.328G>A; p.E110K; 8:119621484-119621484 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1259A>G; p.D420G; 8:119590609-119590609 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1622T>A; p.V541E; 8:119583794-119583794 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1117C>T; p.R373C; 8:119595858-119595858 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2247C>T; p.F749F; 8:119568215-119568215 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.451G>A; p.E151K; 8:119619272-119619272 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1124A>C; p.D375A; 8:119595851-119595851 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1723C>G; p.P575A; 8:119582579-119582579 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2444C>A; p.P815H; 8:119562990-119562990 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117C>A; p.R373S; 8:119595858-119595858 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.562A>G; p.N188D; 8:119617481-119617481 |
liver | carcinoma | Substitution - Missense |
c.968C>A; p.P323H; 8:119600682-119600682 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.156G>T; p.W52C; 8:119626701-119626701 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.487C>T; p.R163C; 8:119617556-119617556 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.487C>T; p.R163C; 8:119617556-119617556 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.487C>T; p.R163C; 8:119617556-119617556 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1957C>T; p.R653*; 8:119570821-119570821 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1957C>T; p.R653*; 8:119570821-119570821 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1530T>C; p.P510P; 8:119584043-119584043 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.303G>A; p.W101*; 8:119621509-119621509 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1480G>C; p.E494Q; 8:119586229-119586229 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1118G>A; p.R373H; 8:119595857-119595857 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1033A>T; p.K345*; 8:119595942-119595942 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1118G>A; p.R373H; 8:119595857-119595857 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1932A>G; p.T644T; 8:119580120-119580120 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.900-4A>T; p.?; 8:119600754-119600754 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.1456C>T; p.H486Y; 8:119586253-119586253 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.900-4A>T; p.?; 8:119600754-119600754 |
liver | carcinoma | Unknown |
c.2739C>T; p.S913S; 8:119557530-119557530 |
pancreas | carcinoma | Substitution - coding silent |
c.1785C>T; p.T595T; 8:119582517-119582517 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1450C>T; p.R484C; 8:119586259-119586259 |
breast | carcinoma | Substitution - Missense |
c.1237+2T>C; p.?; 8:119593750-119593750 |
liver | carcinoma | Unknown |
c.1073G>T; p.R358I; 8:119595902-119595902 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1073G>T; p.R358I; 8:119595902-119595902 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.836T>C; p.V279A; 8:119601460-119601460 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1073G>T; p.R358I; 8:119595902-119595902 |
breast | carcinoma | Substitution - Missense |
c.977G>A; p.S326N; 8:119595998-119595998 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.17C>T; p.S6L; 8:119638764-119638764 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.846C>T; p.H282H; 8:119601450-119601450 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.846C>T; p.H282H; 8:119601450-119601450 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1340C>T; p.S447F; 8:119590528-119590528 |
breast | carcinoma | Substitution - Missense |
c.1133C>A; p.T378K; 8:119593856-119593856 |
pancreas | carcinoma | Substitution - Missense |
c.2584G>A; p.E862K; 8:119557685-119557685 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1955G>T; p.G652V; 8:119570823-119570823 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1458C>G; p.H486Q; 8:119586251-119586251 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.880A>G; p.T294A; 8:119601416-119601416 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.343G>T; p.E115*; 8:119621469-119621469 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2605G>A; p.E869K; 8:119557664-119557664 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1131G>T; p.M377I; 8:119593858-119593858 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2288-1G>T; p.?; 8:119564956-119564956 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.733C>T; p.R245*; 8:119616309-119616309 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1025T>C; p.V342A; 8:119595950-119595950 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1831C>A; p.L611I; 8:119582471-119582471 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2325A>C; p.K775N; 8:119564918-119564918 |
pancreas | carcinoma | Substitution - Missense |
c.2325A>C; p.K775N; 8:119564918-119564918 |
pancreas | carcinoma | Substitution - Missense |
c.1063C>A; p.P355T; 8:119595912-119595912 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.601T>C; p.Y201H; 8:119617220-119617220 |
prostate | carcinoma | Substitution - Missense |
c.2203C>G; p.P735A; 8:119569241-119569241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2325A>C; p.K775N; 8:119564918-119564918 |
pancreas | carcinoma | Substitution - Missense |
c.2161G>A; p.A721T; 8:119569283-119569283 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.887C>A; p.P296Q; 8:119601409-119601409 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2741A>G; p.E914G; 8:119557528-119557528 |
breast | carcinoma | Substitution - Missense |
c.95G>A; p.R32Q; 8:119638466-119638466 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.95G>A; p.R32Q; 8:119638466-119638466 |
breast | carcinoma | Substitution - Missense |
c.2103G>T; p.L701L; 8:119569341-119569341 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1517T>C; p.V506A; 8:119586192-119586192 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2116C>T; p.R706W; 8:119569328-119569328 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.774A>T; p.Q258H; 8:119616268-119616268 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1076G>T; p.R359I; 8:119595899-119595899 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2129G>C; p.R710P; 8:119569315-119569315 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1717C>T; p.P573S; 8:119582585-119582585 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.777G>T; p.P259P; 8:119616265-119616265 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.846C>G; p.H282Q; 8:119601450-119601450 |
breast | carcinoma | Substitution - Missense |
c.1324C>G; p.L442V; 8:119590544-119590544 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2465G>A; p.S822N; 8:119562969-119562969 |
thyroid | carcinoma | Substitution - Missense |
c.277C>A; p.L93M; 8:119626580-119626580 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2162C>T; p.A721V; 8:119569282-119569282 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.658G>A; p.G220R; 8:119616384-119616384 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.120G>A; p.E40E; 8:119638441-119638441 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1146G>C; p.R382S; 8:119593843-119593843 |
thyroid | carcinoma | Substitution - Missense |
c.908T>C; p.V303A; 8:119600742-119600742 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1528C>T; p.P510S; 8:119584045-119584045 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.744G>A; p.E248E; 8:119616298-119616298 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.2262G>T; p.M754I; 8:119568200-119568200 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2348T>G; p.V783G; 8:119564895-119564895 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1396-8T>C; p.?; 8:119586321-119586321 |
pancreas | carcinoid-endocrine_tumour | Unknown |
c.2431G>A; p.G811S; 8:119563003-119563003 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.346A>C; p.N116H; 8:119621466-119621466 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1164G>T; p.V388V; 8:119593825-119593825 |
oesophagus | carcinoma | Substitution - coding silent |
c.1300G>T; p.D434Y; 8:119590568-119590568 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2322G>T; p.K774N; 8:119564921-119564921 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.349G>T; p.A117S; 8:119621463-119621463 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.426G>A; p.S142S; 8:119619297-119619297 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.426G>A; p.S142S; 8:119619297-119619297 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1854C>A; p.G618G; 8:119582448-119582448 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.426G>A; p.S142S; 8:119619297-119619297 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.480-4T>G; p.?; 8:119617567-119617567 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1854C>A; p.G618G; 8:119582448-119582448 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2724G>A; p.L908L; 8:119557545-119557545 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1153G>A; p.D385N; 8:119593836-119593836 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1446C>G; p.P482P; 8:119586263-119586263 |
breast | carcinoma | Substitution - coding silent |
c.1262G>T; p.R421I; 8:119590606-119590606 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2632A>C; p.R878R; 8:119557637-119557637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2632A>C; p.R878R; 8:119557637-119557637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.579G>T; p.R193S; 8:119617242-119617242 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2287+1delG; p.?; 8:119568174-119568174 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.2309_2310GG>AA; p.R770K; 8:119564933-119564934 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.847G>A; p.E283K; 8:119601449-119601449 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.630C>A; p.T210T; 8:119617191-119617191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.606G>T; p.M202I; 8:119617215-119617215 |
breast | carcinoma | Substitution - Missense |
c.2518C>A; p.P840T; 8:119562916-119562916 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1749G>A; p.L583L; 8:119582553-119582553 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1569C>T; p.F523F; 8:119584004-119584004 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2516G>T; p.G839V; 8:119562918-119562918 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2503G>A; p.D835N; 8:119562931-119562931 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1340C>A; p.S447Y; 8:119590528-119590528 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1331G>T; p.R444I; 8:119590537-119590537 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1331G>T; p.R444I; 8:119590537-119590537 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1964C>T; p.A655V; 8:119570814-119570814 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1973A>T; p.Y658F; 8:119570805-119570805 |
oesophagus | carcinoma | Substitution - Missense |
c.294C>A; p.A98A; 8:119621518-119621518 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2088C>T; p.S696S; 8:119569356-119569356 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.127C>T; p.P43S; 8:119638434-119638434 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.127C>T; p.P43S; 8:119638434-119638434 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.328G>T; p.E110*; 8:119621484-119621484 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1267G>C; p.E423Q; 8:119590601-119590601 |
breast | carcinoma | Substitution - Missense |
c.82T>A; p.F28I; 8:119638479-119638479 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1762C>T; p.R588C; 8:119582540-119582540 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1071A>G; p.K357K; 8:119595904-119595904 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1539T>C; p.V513V; 8:119584034-119584034 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1539T>C; p.V513V; 8:119584034-119584034 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.391T>A; p.C131S; 8:119621421-119621421 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2287+1G>A; p.?; 8:119568174-119568174 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.795C>T; p.T265T; 8:119607960-119607960 |
skin | malignant_melanoma | Substitution - coding silent |
c.2523C>G; p.L841L; 8:119562911-119562911 |
skin | malignant_melanoma | Substitution - coding silent |
c.1737C>G; p.T579T; 8:119582565-119582565 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2563G>T; p.E855*; 8:119562871-119562871 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.285G>A; p.L95L; 8:119626572-119626572 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1028C>T; p.A343V; 8:119595947-119595947 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1886A>G; p.N629S; 8:119580166-119580166 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.630C>T; p.T210T; 8:119617191-119617191 |
skin | malignant_melanoma | Substitution - coding silent |
c.1569C>A; p.F523L; 8:119584004-119584004 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.48C>A; p.F16L; 8:119638513-119638513 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2560A>G; p.N854D; 8:119562874-119562874 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2560A>G; p.N854D; 8:119562874-119562874 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2562C>T; p.N854N; 8:119562872-119562872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2562C>T; p.N854N; 8:119562872-119562872 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2562C>T; p.N854N; 8:119562872-119562872 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1405C>A; p.P469T; 8:119586304-119586304 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |