| General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction |
Basic Information | |||
|---|---|---|---|
Gene ID | 83394 | ||
Name | PITPNM3 | ||
The somatic mutations from COSMIC database | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1779G>A; p.M593I; 17:6468336-6468336 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.323G>A; p.G108E; 17:6484244-6484244 |
skin | malignant_melanoma | Substitution - Missense |
c.337C>A; p.H113N; 17:6484230-6484230 |
breast | carcinoma | Substitution - Missense |
c.1726G>C; p.A576P; 17:6470307-6470307 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.758G>A; p.G253E; 17:6478566-6478566 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1675C>T; p.P559S; 17:6470358-6470358 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.100G>A; p.E34K; 17:6538005-6538005 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2526G>A; p.T842T; 17:6457687-6457687 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2031G>A; p.E677E; 17:6464295-6464295 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.241C>T; p.P81S; 17:6503560-6503560 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2089A>G; p.I697V; 17:6464237-6464237 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.241C>T; p.P81S; 17:6503560-6503560 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.241C>T; p.P81S; 17:6503560-6503560 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.864C>T; p.A288A; 17:6478011-6478011 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1972G>A; p.G658R; 17:6464690-6464690 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1273C>T; p.P425S; 17:6472813-6472813 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2807C>T; p.A936V; 17:6455456-6455456 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2328C>T; p.Y776Y; 17:6461535-6461535 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2510C>T; p.A837V; 17:6457703-6457703 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.732C>A; p.Y244*; 17:6478592-6478592 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.717A>T; p.R239R; 17:6478607-6478607 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2810C>A; p.A937D; 17:6455453-6455453 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2857G>T; p.D953Y; 17:6455406-6455406 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2857G>T; p.D953Y; 17:6455406-6455406 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.222T>C; p.H74H; 17:6525360-6525360 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.147C>T; p.I49I; 17:6525435-6525435 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2268C>T; p.S756S; 17:6463770-6463770 |
stomach | adenocarcinoma | Substitution - coding silent |
c.2087G>A; p.R696H; 17:6464239-6464239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.70C>A; p.L24I; 17:6538035-6538035 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1736G>T; p.W579L; 17:6470297-6470297 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.265G>A; p.E89K; 17:6503536-6503536 |
skin | malignant_melanoma | Substitution - Missense |
c.477C>T; p.S159S; 17:6483627-6483627 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1621C>T; p.R541C; 17:6471164-6471164 |
prostate | carcinoma | Substitution - Missense |
c.1904A>T; p.N635I; 17:6464758-6464758 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.435G>A; p.G145G; 17:6483669-6483669 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2037C>T; p.S679S; 17:6464289-6464289 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1870C>T; p.R624W; 17:6468245-6468245 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.183C>T; p.L61L; 17:6525399-6525399 |
skin | malignant_melanoma | Substitution - coding silent |
c.1830A>G; p.A610A; 17:6468285-6468285 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2709G>A; p.L903L; 17:6455554-6455554 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2709G>A; p.L903L; 17:6455554-6455554 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.2196G>T; p.L732F; 17:6463842-6463842 |
kidney | Wilms_tumour | Substitution - Missense |
c.279A>G; p.E93E; 17:6484288-6484288 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.734G>T; p.R245I; 17:6478590-6478590 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.407G>A; p.G136E; 17:6483697-6483697 |
skin | malignant_melanoma | Substitution - Missense |
c.2904delC; p.K969fs*>6; 17:6455359-6455359 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1850G>A; p.R617Q; 17:6468265-6468265 |
liver | carcinoma | Substitution - Missense |
c.2904delC; p.K969fs*>6; 17:6455359-6455359 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1850G>A; p.R617Q; 17:6468265-6468265 |
liver | carcinoma | Substitution - Missense |
c.45T>A; p.G15G; 17:6538060-6538060 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1950C>T; p.V650V; 17:6464712-6464712 |
skin | malignant_melanoma | Substitution - coding silent |
c.1950C>T; p.V650V; 17:6464712-6464712 |
skin | malignant_melanoma | Substitution - coding silent |
c.1976C>T; p.P659L; 17:6464686-6464686 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.462C>G; p.I154M; 17:6483642-6483642 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.352-1G>A; p.?; 17:6483753-6483753 |
skin | malignant_melanoma | Unknown |
c.1477C>T; p.R493W; 17:6471308-6471308 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2474G>A; p.R825H; 17:6461389-6461389 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.988G>A; p.E330K; 17:6477126-6477126 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2409G>T; p.Q803H; 17:6461454-6461454 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1487C>T; p.P496L; 17:6471298-6471298 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2108G>A; p.R703Q; 17:6464218-6464218 |
pancreas | carcinoma | Substitution - Missense |
c.2259C>T; p.I753I; 17:6463779-6463779 |
skin; trunk | malignant_melanoma; nodular | Substitution - coding silent |
c.802G>T; p.G268W; 17:6478073-6478073 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2228T>A; p.I743N; 17:6463810-6463810 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1041C>T; p.T347T; 17:6477073-6477073 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2641G>A; p.A881T; 17:6455622-6455622 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2641G>A; p.A881T; 17:6455622-6455622 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.903C>T; p.D301D; 17:6477211-6477211 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.238G>A; p.A80T; 17:6503563-6503563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.238G>A; p.A80T; 17:6503563-6503563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.49C>T; p.P17S; 17:6538056-6538056 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.49C>T; p.P17S; 17:6538056-6538056 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1608C>T; p.P536P; 17:6471177-6471177 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1608C>T; p.P536P; 17:6471177-6471177 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.915G>A; p.A305A; 17:6477199-6477199 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1080C>T; p.L360L; 17:6477034-6477034 |
breast | carcinoma | Substitution - coding silent |
c.507C>T; p.F169F; 17:6483597-6483597 |
skin | malignant_melanoma | Substitution - coding silent |
c.2174C>T; p.A725V; 17:6463864-6463864 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2430T>C; p.D810D; 17:6461433-6461433 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2430T>C; p.D810D; 17:6461433-6461433 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.426G>T; p.T142T; 17:6483678-6483678 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2125G>T; p.V709F; 17:6464201-6464201 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>A; p.D274N; 17:6478055-6478055 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.471C>G; p.F157L; 17:6483633-6483633 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.471C>G; p.F157L; 17:6483633-6483633 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2063C>T; p.T688I; 17:6464263-6464263 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2063C>T; p.T688I; 17:6464263-6464263 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1232G>A; p.R411Q; 17:6474458-6474458 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1231C>T; p.R411W; 17:6474459-6474459 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2428G>A; p.D810N; 17:6461435-6461435 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.2675C>T; p.S892L; 17:6455588-6455588 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1846_1847CC>TT; p.P616F; 17:6468268-6468269 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.948G>T; p.K316N; 17:6477166-6477166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.699C>T; p.V233V; 17:6478625-6478625 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1857G>A; p.K619K; 17:6468258-6468258 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1699A>C; p.T567P; 17:6470334-6470334 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2809G>A; p.A937T; 17:6455454-6455454 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2016C>G; p.I672M; 17:6464310-6464310 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1358A>C; p.H453P; 17:6472728-6472728 |
breast | carcinoma | Substitution - Missense |
c.2427C>T; p.S809S; 17:6461436-6461436 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.721A>G; p.N241D; 17:6478603-6478603 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.237C>T; p.T79T; 17:6503564-6503564 |
liver | carcinoma | Substitution - coding silent |
c.2096A>G; p.Y699C; 17:6464230-6464230 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.840G>A; p.A280A; 17:6478035-6478035 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1971C>T; p.Y657Y; 17:6464691-6464691 |
kidney | other; neoplasm | Substitution - coding silent |
c.35C>G; p.P12R; 17:6538070-6538070 |
skin | malignant_melanoma | Substitution - Missense |
c.343G>A; p.D115N; 17:6484224-6484224 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.863C>T; p.A288V; 17:6478012-6478012 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1017G>A; p.P339P; 17:6477097-6477097 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1538G>A; p.R513H; 17:6471247-6471247 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2815C>A; p.P939T; 17:6455448-6455448 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2815C>A; p.P939T; 17:6455448-6455448 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2815C>A; p.P939T; 17:6455448-6455448 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2904_2905insC; p.K969fs*>7; 17:6455358-6455359 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.606C>T; p.H202H; 17:6478718-6478718 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1810G>A; p.A604T; 17:6468305-6468305 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2876C>T; p.P959L; 17:6455387-6455387 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1479G>T; p.R493R; 17:6471306-6471306 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1479G>T; p.R493R; 17:6471306-6471306 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2398A>T; p.N800Y; 17:6461465-6461465 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.649G>A; p.A217T; 17:6478675-6478675 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1167C>T; p.R389R; 17:6474523-6474523 |
kidney | other; neoplasm | Substitution - coding silent |
c.1139C>T; p.P380L; 17:6474551-6474551 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.706G>A; p.V236I; 17:6478618-6478618 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2774G>A; p.R925K; 17:6455489-6455489 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.471C>T; p.F157F; 17:6483633-6483633 |
skin | malignant_melanoma | Substitution - coding silent |
c.2280C>T; p.V760V; 17:6463758-6463758 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2280C>T; p.V760V; 17:6463758-6463758 |
skin | malignant_melanoma | Substitution - coding silent |
c.40G>T; p.G14C; 17:6538065-6538065 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1781G>A; p.R594H; 17:6468334-6468334 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.456C>T; p.A152A; 17:6483648-6483648 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.674C>T; p.S225F; 17:6478650-6478650 |
skin | malignant_melanoma | Substitution - Missense |
c.1085+1G>T; p.?; 17:6477028-6477028 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.2797G>A; p.D933N; 17:6455466-6455466 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2415G>A; p.M805I; 17:6461448-6461448 |
skin | malignant_melanoma | Substitution - Missense |
c.1986G>A; p.M662I; 17:6464676-6464676 |
thyroid | carcinoma | Substitution - Missense |
c.31C>T; p.P11S; 17:6538074-6538074 |
skin | malignant_melanoma | Substitution - Missense |
c.31C>T; p.P11S; 17:6538074-6538074 |
skin | malignant_melanoma | Substitution - Missense |
c.1819G>A; p.D607N; 17:6468296-6468296 |
skin | malignant_melanoma | Substitution - Missense |
c.2151C>T; p.V717V; 17:6464175-6464175 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1819G>A; p.D607N; 17:6468296-6468296 |
skin | malignant_melanoma | Substitution - Missense |
c.366G>A; p.Q122Q; 17:6483738-6483738 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2111C>G; p.P704R; 17:6464215-6464215 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1452_1453insTGC; p.S484_P485insC; 17:6471332-6471333 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - In frame |
c.948G>C; p.K316N; 17:6477166-6477166 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1527G>A; p.S509S; 17:6471258-6471258 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1345G>A; p.E449K; 17:6472741-6472741 |
skin | malignant_melanoma | Substitution - Missense |
c.2269G>A; p.D757N; 17:6463769-6463769 |
skin | malignant_melanoma | Substitution - Missense |
c.1166G>A; p.R389H; 17:6474524-6474524 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2473C>A; p.R825S; 17:6461390-6461390 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2424C>A; p.F808L; 17:6461439-6461439 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1345G>A; p.E449K; 17:6472741-6472741 |
skin | malignant_melanoma | Substitution - Missense |
c.497G>A; p.R166Q; 17:6483607-6483607 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1625-7C>A; p.?; 17:6470415-6470415 |
pancreas | carcinoma | Unknown |
c.2453G>T; p.R818L; 17:6461410-6461410 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>T; p.A313S; 17:6477177-6477177 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1978C>T; p.L660F; 17:6464684-6464684 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1377C>T; p.S459S; 17:6472709-6472709 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.207G>A; p.G69G; 17:6525375-6525375 |
skin | malignant_melanoma | Substitution - coding silent |
c.207G>A; p.G69G; 17:6525375-6525375 |
skin | malignant_melanoma | Substitution - coding silent |
c.1625-9G>A; p.?; 17:6470417-6470417 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.180C>A; p.D60E; 17:6525402-6525402 |
prostate | carcinoma | Substitution - Missense |
c.1429G>A; p.A477T; 17:6472657-6472657 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.753T>G; p.S251S; 17:6478571-6478571 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.348C>T; p.S116S; 17:6484219-6484219 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1270C>T; p.R424C; 17:6472816-6472816 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2043C>T; p.G681G; 17:6464283-6464283 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2910C>T; p.F970F; 17:6455353-6455353 |
skin | malignant_melanoma | Substitution - coding silent |
c.1067A>C; p.H356P; 17:6477047-6477047 |
breast | carcinoma | Substitution - Missense |
c.1780C>T; p.R594C; 17:6468335-6468335 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1557C>T; p.S519S; 17:6471228-6471228 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1557C>T; p.S519S; 17:6471228-6471228 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2452C>T; p.R818W; 17:6461411-6461411 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1670A>G; p.Y557C; 17:6470363-6470363 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1027A>T; p.S343C; 17:6477087-6477087 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1018C>T; p.R340W; 17:6477096-6477096 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.241C>G; p.P81A; 17:6503560-6503560 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.531C>T; p.L177L; 17:6483573-6483573 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1018C>T; p.R340W; 17:6477096-6477096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2104C>T; p.P702S; 17:6464222-6464222 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1761C>T; p.F587F; 17:6470272-6470272 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1656C>T; p.I552I; 17:6470377-6470377 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1761C>T; p.F587F; 17:6470272-6470272 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1251G>A; p.G417G; 17:6474439-6474439 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2122G>T; p.G708W; 17:6464204-6464204 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.570T>C; p.A190A; 17:6483534-6483534 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2476A>C; p.N826H; 17:6461387-6461387 |
skin | malignant_melanoma | Substitution - Missense |
c.2476A>C; p.N826H; 17:6461387-6461387 |
skin | malignant_melanoma | Substitution - Missense |
c.2476A>C; p.N826H; 17:6461387-6461387 |
skin | malignant_melanoma | Substitution - Missense |
c.659_660CC>TT; p.P220L; 17:6478664-6478665 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1558G>T; p.E520*; 17:6471227-6471227 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.789C>T; p.I263I; 17:6478086-6478086 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1514C>T; p.P505L; 17:6471271-6471271 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.349G>A; p.E117K; 17:6484218-6484218 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.67G>A; p.V23I; 17:6538038-6538038 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.819C>T; p.F273F; 17:6478056-6478056 |
skin | malignant_melanoma | Substitution - coding silent |
c.1416G>A; p.Q472Q; 17:6472670-6472670 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.2307-5A>G; p.?; 17:6461561-6461561 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |