| Gene ID | 23213 |
| Symbol | SULF1 |
| Synonymous | HSULF-1|SULF-1 |
| Full name | sulfatase 1 |
| Gene description | extracellular sulfatase Sulf-1|sulfatase FP |
| Cytoband | 8q13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:610012; HGNC:HGNC:20391; Ensembl:ENSG00000137573; HPRD:15450; Vega:OTTHUMG00000164466 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1641C>T; p.S547S; 8:69623988-69623988 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1140G>A; p.V380V; 8:69603270-69603270 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.83C>T; p.P28L; 8:69564058-69564058 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.203A>C; p.K68T; 8:69576000-69576000 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.436G>A; p.E146K; 8:69586380-69586380 |
breast | carcinoma | Substitution - Missense |
c.2280G>A; p.W760*; 8:69629675-69629675 |
skin | malignant_melanoma | Substitution - Nonsense |
c.347C>T; p.S116L; 8:69576144-69576144 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1891G>A; p.E631K; 8:69627250-69627250 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2583C>G; p.H861Q; 8:69640839-69640839 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.223G>A; p.A75T; 8:69576020-69576020 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.159A>C; p.Q53H; 8:69564134-69564134 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2300C>T; p.A767V; 8:69638517-69638517 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1719T>G; p.I573M; 8:69624066-69624066 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1612G>T; p.V538F; 8:69623959-69623959 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.1168G>T; p.D390Y; 8:69603298-69603298 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1094delC; p.T367fs*46; 8:69603224-69603224 |
skin | malignant_melanoma | Deletion - Frameshift |
c.2517G>A; p.K839K; 8:69638824-69638824 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2157C>A; p.N719K; 8:69629552-69629552 |
breast | carcinoma | Substitution - Missense |
c.1190+2T>C; p.?; 8:69603322-69603322 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1681G>A; p.E561K; 8:69624028-69624028 |
breast | carcinoma | Substitution - Missense |
c.1539C>G; p.A513A; 8:69621196-69621196 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.154G>T; p.D52Y; 8:69564129-69564129 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.867G>T; p.V289V; 8:69600735-69600735 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.86G>T; p.R29M; 8:69564061-69564061 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2291C>A; p.S764Y; 8:69638508-69638508 |
breast | carcinoma | Substitution - Missense |
c.1135G>A; p.D379N; 8:69603265-69603265 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.456C>T; p.I152I; 8:69586400-69586400 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.456C>T; p.I152I; 8:69586400-69586400 |
skin | malignant_melanoma | Substitution - coding silent |
c.1380G>A; p.K460K; 8:69621037-69621037 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2251A>G; p.N751D; 8:69629646-69629646 |
liver | carcinoma | Substitution - Missense |
c.2165G>A; p.R722K; 8:69629560-69629560 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1816G>A; p.V606M; 8:69624163-69624163 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1535G>A; p.R512H; 8:69621192-69621192 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1642G>A; p.V548I; 8:69623989-69623989 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.68C>T; p.S23L; 8:69564043-69564043 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1903T>C; p.S635P; 8:69627262-69627262 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1891G>T; p.E631*; 8:69627250-69627250 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2456G>A; p.R819Q; 8:69638763-69638763 |
skin | malignant_melanoma | Substitution - Missense |
c.1023delT; p.F343fs*7; 8:69601791-69601791 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2228G>C; p.G743A; 8:69629623-69629623 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1023delT; p.F343fs*7; 8:69601791-69601791 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1023delT; p.F343fs*7; 8:69601791-69601791 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.387T>A; p.Y129*; 8:69576184-69576184 |
liver | carcinoma | Substitution - Nonsense |
c.1023delT; p.F343fs*7; 8:69601791-69601791 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.387T>A; p.Y129*; 8:69576184-69576184 |
liver | carcinoma | Substitution - Nonsense |
c.1622G>A; p.R541Q; 8:69623969-69623969 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.592G>A; p.E198K; 8:69588999-69588999 |
skin | malignant_melanoma | Substitution - Missense |
c.2340T>C; p.R780R; 8:69638557-69638557 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.592G>A; p.E198K; 8:69588999-69588999 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1630C>T; p.R544C; 8:69623977-69623977 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.689C>T; p.S230L; 8:69589096-69589096 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1832C>T; p.T611I; 8:69624179-69624179 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.213A>T; p.E71D; 8:69576010-69576010 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2493G>A; p.E831E; 8:69638800-69638800 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1920G>A; p.K640K; 8:69627279-69627279 |
skin | malignant_melanoma | Substitution - coding silent |
c.992C>T; p.S331F; 8:69601760-69601760 |
skin | malignant_melanoma | Substitution - Missense |
c.1554A>G; p.R518R; 8:69621211-69621211 |
skin | malignant_melanoma | Substitution - coding silent |
c.1727G>A; p.R576H; 8:69624074-69624074 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1727G>A; p.R576H; 8:69624074-69624074 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.527A>G; p.N176S; 8:69586471-69586471 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1812C>T; p.N604N; 8:69624159-69624159 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1645G>A; p.E549K; 8:69623992-69623992 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1645G>A; p.E549K; 8:69623992-69623992 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1954G>A; p.A652T; 8:69627778-69627778 |
liver | carcinoma | Substitution - Missense |
c.1954G>A; p.A652T; 8:69627778-69627778 |
liver | carcinoma | Substitution - Missense |
c.1645G>A; p.E549K; 8:69623992-69623992 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2154G>C; p.E718D; 8:69629549-69629549 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1256T>G; p.L419R; 8:69604811-69604811 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1954G>A; p.A652T; 8:69627778-69627778 |
liver | carcinoma | Substitution - Missense |
c.1015C>T; p.R339C; 8:69601783-69601783 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1954G>A; p.A652T; 8:69627778-69627778 |
liver | carcinoma | Substitution - Missense |
c.497C>A; p.S166Y; 8:69586441-69586441 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1123G>A; p.D375N; 8:69603253-69603253 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.665C>T; p.A222V; 8:69589072-69589072 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.774C>T; p.H258H; 8:69600642-69600642 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1619C>T; p.T540I; 8:69623966-69623966 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.565-2A>G; p.?; 8:69588970-69588970 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2079G>T; p.E693D; 8:69628207-69628207 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1191-1G>C; p.?; 8:69603599-69603599 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Unknown |
c.920A>G; p.E307G; 8:69601688-69601688 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2116G>T; p.A706S; 8:69629511-69629511 |
oesophagus | carcinoma | Substitution - Missense |
c.1123G>C; p.D375H; 8:69603253-69603253 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1689A>C; p.E563D; 8:69624036-69624036 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1075G>A; p.V359I; 8:69603205-69603205 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1689A>C; p.E563D; 8:69624036-69624036 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1075G>A; p.V359I; 8:69603205-69603205 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1190G>A; p.R397K; 8:69603320-69603320 |
liver | carcinoma | Substitution - Missense |
c.422G>T; p.G141V; 8:69586366-69586366 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.839G>A; p.R280H; 8:69600707-69600707 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1051C>G; p.P351A; 8:69601819-69601819 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1211C>T; p.A404V; 8:69603620-69603620 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2365C>A; p.L789I; 8:69638582-69638582 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.849C>T; p.L283L; 8:69600717-69600717 |
skin; upper_arm | malignant_melanoma | Substitution - coding silent |
c.289G>A; p.G97R; 8:69576086-69576086 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1163T>G; p.L388R; 8:69603293-69603293 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.636T>C; p.H212H; 8:69589043-69589043 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1877T>C; p.I626T; 8:69627236-69627236 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1436C>T; p.P479L; 8:69621093-69621093 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.591C>T; p.N197N; 8:69588998-69588998 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.294G>T; p.K98N; 8:69576091-69576091 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.457C>T; p.P153S; 8:69586401-69586401 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.97C>T; p.R33W; 8:69564072-69564072 |
haematopoietic_and_lymphoid_tissue; soft_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2288G>T; p.G763V; 8:69638505-69638505 |
pancreas | carcinoma | Substitution - Missense |
c.1033C>T; p.R345C; 8:69601801-69601801 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.343C>T; p.P115S; 8:69576140-69576140 |
skin | malignant_melanoma | Substitution - Missense |
c.1033C>T; p.R345C; 8:69601801-69601801 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2381C>T; p.A794V; 8:69638598-69638598 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma; classic | Substitution - Missense |
c.1947G>A; p.E649E; 8:69627306-69627306 |
bone; pelvis | chondrosarcoma | Substitution - coding silent |
c.250A>T; p.T84S; 8:69576047-69576047 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.2206G>A; p.G736R; 8:69629601-69629601 |
skin | malignant_melanoma | Substitution - Missense |
c.1315G>A; p.E439K; 8:69604870-69604870 |
skin | malignant_melanoma | Substitution - Missense |
c.984G>A; p.K328K; 8:69601752-69601752 |
skin | malignant_melanoma | Substitution - coding silent |
c.1315G>A; p.E439K; 8:69604870-69604870 |
skin | malignant_melanoma | Substitution - Missense |
c.1190G>T; p.R397M; 8:69603320-69603320 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.224C>T; p.A75V; 8:69576021-69576021 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2207G>A; p.G736E; 8:69629602-69629602 |
skin | malignant_melanoma | Substitution - Missense |
c.2207G>A; p.G736E; 8:69629602-69629602 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2273C>A; p.P758Q; 8:69629668-69629668 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.5A>G; p.K2R; 8:69563980-69563980 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2391T>G; p.F797L; 8:69638608-69638608 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1460A>G; p.Q487R; 8:69621117-69621117 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.139C>A; p.L47I; 8:69564114-69564114 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1403C>T; p.S468F; 8:69621060-69621060 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.436G>T; p.E146*; 8:69586380-69586380 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1403C>T; p.S468F; 8:69621060-69621060 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.139C>A; p.L47I; 8:69564114-69564114 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.487A>T; p.I163F; 8:69586431-69586431 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.740C>T; p.P247L; 8:69600608-69600608 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.422G>A; p.G141E; 8:69586366-69586366 |
skin | malignant_melanoma | Substitution - Missense |
c.2284+1delG; p.?; 8:69629680-69629680 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.34G>A; p.V12I; 8:69564009-69564009 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1737A>G; p.E579E; 8:69624084-69624084 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.740C>G; p.P247R; 8:69600608-69600608 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1457G>A; p.R486Q; 8:69621114-69621114 |
breast | carcinoma | Substitution - Missense |
c.1439G>A; p.S480N; 8:69621096-69621096 |
liver | carcinoma | Substitution - Missense |
c.1270G>C; p.E424Q; 8:69604825-69604825 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.609C>T; p.F203F; 8:69589016-69589016 |
skin | malignant_melanoma | Substitution - coding silent |
c.2513A>G; p.Y838C; 8:69638820-69638820 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1627A>G; p.T543A; 8:69623974-69623974 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1522G>A; p.E508K; 8:69621179-69621179 |
skin | malignant_melanoma | Substitution - Missense |
c.1917G>A; p.W639*; 8:69627276-69627276 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1094C>T; p.A365V; 8:69603224-69603224 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1094C>T; p.A365V; 8:69603224-69603224 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2459G>A; p.G820D; 8:69638766-69638766 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.504C>G; p.F168L; 8:69586448-69586448 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2008A>G; p.R670G; 8:69627832-69627832 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1518T>C; p.C506C; 8:69621175-69621175 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1476C>A; p.L492L; 8:69621133-69621133 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1286T>C; p.I429T; 8:69604841-69604841 |
liver | carcinoma | Substitution - Missense |
c.543G>T; p.K181N; 8:69586487-69586487 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1286T>C; p.I429T; 8:69604841-69604841 |
liver | carcinoma | Substitution - Missense |
c.264C>T; p.C88C; 8:69576061-69576061 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.264C>T; p.C88C; 8:69576061-69576061 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1377+9C>T; p.?; 8:69604941-69604941 |
pancreas | carcinoma | Unknown |
c.2552G>A; p.G851E; 8:69640808-69640808 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2552G>A; p.G851E; 8:69640808-69640808 |
skin | malignant_melanoma | Substitution - Missense |
c.95G>A; p.G32E; 8:69564070-69564070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2004G>T; p.K668N; 8:69627828-69627828 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.112C>T; p.R38*; 8:69564087-69564087 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.275C>T; p.S92F; 8:69576072-69576072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.72T>C; p.T24T; 8:69564047-69564047 |
breast | carcinoma | Substitution - coding silent |
c.1831A>T; p.T611S; 8:69624178-69624178 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.456delC; p.P154fs*9; 8:69586400-69586400 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2374G>C; p.E792Q; 8:69638591-69638591 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2569A>G; p.S857G; 8:69640825-69640825 |
skin | malignant_melanoma | Substitution - Missense |
c.24G>A; p.L8L; 8:69563999-69563999 |
skin | malignant_melanoma | Substitution - coding silent |
c.2028C>A; p.S676R; 8:69627852-69627852 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1275C>T; p.S425S; 8:69604830-69604830 |
skin | malignant_melanoma | Substitution - coding silent |
c.2545G>A; p.D849N; 8:69638852-69638852 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1712G>T; p.R571I; 8:69624059-69624059 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1045G>A; p.V349I; 8:69601813-69601813 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.837G>A; p.Q279Q; 8:69600705-69600705 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.192C>G; p.N64K; 8:69575989-69575989 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1045G>A; p.V349I; 8:69601813-69601813 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2043C>A; p.S681R; 8:69628171-69628171 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.413C>G; p.A138G; 8:69586357-69586357 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.499C>T; p.R167C; 8:69586443-69586443 |
skin | malignant_melanoma | Substitution - Missense |
c.371G>A; p.R124Q; 8:69576168-69576168 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1565G>C; p.R522P; 8:69621222-69621222 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.838C>T; p.R280C; 8:69600706-69600706 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2243C>T; p.T748M; 8:69629638-69629638 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.910G>C; p.G304R; 8:69601678-69601678 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1163T>C; p.L388P; 8:69603293-69603293 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2355G>A; p.T785T; 8:69638572-69638572 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1242A>T; p.E414D; 8:69603651-69603651 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2040A>C; p.Q680H; 8:69627864-69627864 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2420C>T; p.P807L; 8:69638637-69638637 |
skin | malignant_melanoma | Substitution - Missense |
c.1370C>T; p.P457L; 8:69604925-69604925 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1280A>G; p.K427R; 8:69604835-69604835 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1280A>G; p.K427R; 8:69604835-69604835 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1280A>G; p.K427R; 8:69604835-69604835 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1318C>T; p.R440W; 8:69604873-69604873 |
pancreas | other; adenoma | Substitution - Missense |
c.504C>A; p.F168L; 8:69586448-69586448 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.702T>G; p.F234L; 8:69589109-69589109 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.974G>C; p.G325A; 8:69601742-69601742 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1706A>C; p.Q569P; 8:69624053-69624053 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.2363T>A; p.F788Y; 8:69638580-69638580 |
skin | malignant_melanoma | Substitution - Missense |
c.1119G>A; p.G373G; 8:69603249-69603249 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2363T>A; p.F788Y; 8:69638580-69638580 |
skin | malignant_melanoma | Substitution - Missense |
c.413-10C>T; p.?; 8:69586347-69586347 |
skin; arm | malignant_melanoma | Unknown |
c.1267G>A; p.E423K; 8:69604822-69604822 |
skin | malignant_melanoma | Substitution - Missense |
c.777G>T; p.W259C; 8:69600645-69600645 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1507G>A; p.E503K; 8:69621164-69621164 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2611G>T; p.G871C; 8:69658530-69658530 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2057A>T; p.E686V; 8:69628185-69628185 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.341C>T; p.S114F; 8:69576138-69576138 |
skin | malignant_melanoma | Substitution - Missense |
c.2479G>A; p.V827I; 8:69638786-69638786 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.910G>A; p.G304R; 8:69601678-69601678 |
skin | malignant_melanoma | Substitution - Missense |
c.2369T>G; p.F790C; 8:69638586-69638586 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1507G>T; p.E503*; 8:69621164-69621164 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.272G>T; p.R91L; 8:69576069-69576069 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2110G>A; p.E704K; 8:69629505-69629505 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.1466C>T; p.T489M; 8:69621123-69621123 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1466C>T; p.T489M; 8:69621123-69621123 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.929A>G; p.Y310C; 8:69601697-69601697 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2377T>G; p.F793V; 8:69638594-69638594 |
skin | malignant_melanoma | Substitution - Missense |
c.1293G>C; p.Q431H; 8:69604848-69604848 |
ovary | other; neoplasm | Substitution - Missense |
c.1016G>A; p.R339H; 8:69601784-69601784 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.364G>A; p.E122K; 8:69576161-69576161 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1016G>A; p.R339H; 8:69601784-69601784 |
central_nervous_system; brain | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.951T>C; p.H317H; 8:69601719-69601719 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2136A>G; p.K712K; 8:69629531-69629531 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.596G>A; p.S199N; 8:69589003-69589003 |
skin | malignant_melanoma | Substitution - Missense |
c.221G>A; p.G74E; 8:69576018-69576018 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2613T>G; p.G871G; 8:69658532-69658532 |
skin | malignant_melanoma | Substitution - coding silent |
c.2095C>A; p.L699I; 8:69628223-69628223 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1841T>A; p.V614E; 8:69624188-69624188 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1122C>T; p.L374L; 8:69603252-69603252 |
skin | malignant_melanoma | Substitution - coding silent |
c.2058G>A; p.E686E; 8:69628186-69628186 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1866C>A; p.P622P; 8:69627225-69627225 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1142A>G; p.D381G; 8:69603272-69603272 |
central_nervous_system; brain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.1813G>A; p.A605T; 8:69624160-69624160 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.19G>T; p.A7S; 8:69563994-69563994 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1726C>T; p.R576C; 8:69624073-69624073 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.375T>G; p.T125T; 8:69576172-69576172 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1034G>A; p.R345H; 8:69601802-69601802 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1063G>A; p.V355I; 8:69603193-69603193 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.2236T>A; p.C746S; 8:69629631-69629631 |
liver | carcinoma | Substitution - Missense |
c.2306C>T; p.T769M; 8:69638523-69638523 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2603G>A; p.G868E; 8:69658522-69658522 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2542C>A; p.L848I; 8:69638849-69638849 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2514T>C; p.Y838Y; 8:69638821-69638821 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1415G>A; p.R472Q; 8:69621072-69621072 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1415G>A; p.R472Q; 8:69621072-69621072 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1195C>T; p.R399*; 8:69603604-69603604 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1415G>A; p.R472Q; 8:69621072-69621072 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1195C>T; p.R399*; 8:69603604-69603604 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1948A>T; p.I650F; 8:69627772-69627772 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.197C>T; p.T66M; 8:69575994-69575994 |
pancreas | carcinoma | Substitution - Missense |
c.1725G>T; p.K575N; 8:69624072-69624072 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.749A>C; p.N250T; 8:69600617-69600617 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.553G>C; p.D185H; 8:69586497-69586497 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>A; p.E294K; 8:69600748-69600748 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.978G>A; p.L326L; 8:69601746-69601746 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1974G>T; p.K658N; 8:69627798-69627798 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.80delC; p.P28fs*36; 8:69564055-69564055 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1597T>C; p.Y533H; 8:69623944-69623944 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.113G>A; p.R38Q; 8:69564088-69564088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.113G>A; p.R38Q; 8:69564088-69564088 |
skin | malignant_melanoma | Substitution - Missense |
c.113G>A; p.R38Q; 8:69564088-69564088 |
skin | malignant_melanoma | Substitution - Missense |
c.2365C>T; p.L789F; 8:69638582-69638582 |
skin | malignant_melanoma | Substitution - Missense |
c.1289A>T; p.Q430L; 8:69604844-69604844 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.210G>A; p.M70I; 8:69576007-69576007 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.516_519delTGTT; p.C174fs*20; 8:69586460-69586463 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.216_217insG; p.A75fs*48; 8:69576013-69576014 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.366G>A; p.E122E; 8:69576163-69576163 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.766G>A; p.D256N; 8:69600634-69600634 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.379G>A; p.A127T; 8:69576176-69576176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1818G>A; p.V606V; 8:69624165-69624165 |
skin | malignant_melanoma | Substitution - coding silent |
c.2194C>T; p.R732W; 8:69629589-69629589 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1564C>T; p.R522W; 8:69621221-69621221 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2519A>C; p.Q840P; 8:69638826-69638826 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1501G>A; p.D501N; 8:69621158-69621158 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1916G>T; p.W639L; 8:69627275-69627275 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1566G>A; p.R522R; 8:69621223-69621223 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1567C>T; p.Q523*; 8:69621224-69621224 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1595A>G; p.K532R; 8:69623942-69623942 |
bone; fibula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1595A>G; p.K532R; 8:69623942-69623942 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1196G>A; p.R399Q; 8:69603605-69603605 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.113_114insA; p.N40fs*13; 8:69564088-69564089 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.901G>A; p.V301M; 8:69601669-69601669 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.113_114insA; p.N40fs*13; 8:69564088-69564089 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.2338C>T; p.R780C; 8:69638555-69638555 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2338C>T; p.R780C; 8:69638555-69638555 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2338C>T; p.R780C; 8:69638555-69638555 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2338C>T; p.R780C; 8:69638555-69638555 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1456C>T; p.R486W; 8:69621113-69621113 |
pancreas | NS | Substitution - Missense |
c.1856T>G; p.F619C; 8:69627215-69627215 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.162T>A; p.D54E; 8:69564137-69564137 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1335C>T; p.C445C; 8:69604890-69604890 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1297A>G; p.N433D; 8:69604852-69604852 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1929G>T; p.K643N; 8:69627288-69627288 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1054G>A; p.G352R; 8:69601822-69601822 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1323C>T; p.V441V; 8:69604878-69604878 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.125G>A; p.R42Q; 8:69564100-69564100 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2112G>T; p.E704D; 8:69629507-69629507 |
ovary | other; neoplasm | Substitution - Missense |
c.2184G>T; p.K728N; 8:69629579-69629579 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.217delG; p.A75fs*8; 8:69576014-69576014 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.217delG; p.A75fs*8; 8:69576014-69576014 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.217delG; p.A75fs*8; 8:69576014-69576014 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.217delG; p.A75fs*8; 8:69576014-69576014 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2588G>C; p.G863A; 8:69658507-69658507 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.2131A>C; p.S711R; 8:69629526-69629526 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2588G>C; p.G863A; 8:69658507-69658507 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>T; p.R175C; 8:69586467-69586467 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2079G>A; p.E693E; 8:69628207-69628207 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1000T>C; p.Y334H; 8:69601768-69601768 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1088A>T; p.D363V; 8:69603218-69603218 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1088A>T; p.D363V; 8:69603218-69603218 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.250A>G; p.T84A; 8:69576047-69576047 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.500G>A; p.R167H; 8:69586444-69586444 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2204A>T; p.K735M; 8:69629599-69629599 |
liver | carcinoma | Substitution - Missense |
c.1455C>A; p.V485V; 8:69621112-69621112 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1541G>A; p.S514N; 8:69621198-69621198 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1541G>A; p.S514N; 8:69621198-69621198 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2204A>T; p.K735M; 8:69629599-69629599 |
liver | carcinoma | Substitution - Missense |
c.1455C>A; p.V485V; 8:69621112-69621112 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.996G>T; p.M332I; 8:69601764-69601764 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1864C>T; p.P622S; 8:69627223-69627223 |
skin | malignant_melanoma | Substitution - Missense |
c.1479C>T; p.Y493Y; 8:69621136-69621136 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.357C>T; p.A119A; 8:69576154-69576154 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2425C>T; p.Q809*; 8:69638642-69638642 |
breast | carcinoma | Substitution - Nonsense |
c.1878C>T; p.I626I; 8:69627237-69627237 |
skin | malignant_melanoma | Substitution - coding silent |
c.832C>T; p.L278L; 8:69600700-69600700 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1434A>C; p.G478G; 8:69621091-69621091 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.266C>T; p.P89L; 8:69576063-69576063 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1384C>T; p.Q462*; 8:69621041-69621041 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |