| Gene ID | 5800 |
| Symbol | PTPRO |
| Synonymous | GLEPP1|NPHS6|PTP-OC|PTP-U2|PTPROT|PTPU2|R-PTP-O |
| Full name | protein tyrosine phosphatase, receptor type, O |
| Gene description | PTP phi|PTPase U2|glomerular epithelial protein 1|osteoclastic transmembrane protein-tyrosine phosphatase|phosphotyrosine phosphatase U2|protein tyrosine phosphatase PTP-U2|receptor-type tyrosine-protein phosphatase O |
| Cytoband | 12p13.3-p13.2|12p13-p12 |
| Gene type | protein-coding |
| Synonymous | MIM:600579; HGNC:HGNC:9678; Ensembl:ENSG00000151490; HPRD:02784; Vega:OTTHUMG00000168786 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1626T>C; p.G542G; 12:15516803-15516803 |
thyroid | other; neoplasm | Substitution - coding silent |
c.127T>C; p.S43P; 12:15484025-15484025 |
thyroid | carcinoma | Substitution - Missense |
c.1228C>T; p.R410*; 12:15504030-15504030 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.356T>A; p.L119Q; 12:15497251-15497251 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.3036G>A; p.G1012G; 12:15580735-15580735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1228C>T; p.R410*; 12:15504030-15504030 |
skin | malignant_melanoma | Substitution - Nonsense |
c.412C>A; p.L138M; 12:15497307-15497307 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3012C>A; p.P1004P; 12:15580711-15580711 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2305G>A; p.E769K; 12:15549094-15549094 |
skin | malignant_melanoma | Substitution - Missense |
c.1133A>G; p.D378G; 12:15503935-15503935 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2644G>T; p.A882S; 12:15560209-15560209 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.2910C>A; p.N970K; 12:15578933-15578933 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2608G>A; p.G870R; 12:15557504-15557504 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796C>T; p.H266Y; 12:15501754-15501754 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.796C>T; p.H266Y; 12:15501754-15501754 |
skin | malignant_melanoma | Substitution - Missense |
c.3417C>T; p.G1139G; 12:15589461-15589461 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1798C>A; p.P600T; 12:15520219-15520219 |
breast | carcinoma | Substitution - Missense |
c.2731A>T; p.K911*; 12:15565612-15565612 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2429C>A; p.S810*; 12:15549218-15549218 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.675T>C; p.P225P; 12:15501633-15501633 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2751G>A; p.P917P; 12:15569420-15569420 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.230C>T; p.T77I; 12:15484128-15484128 |
skin | malignant_melanoma | Substitution - Missense |
c.1444G>A; p.E482K; 12:15508747-15508747 |
skin; chest | malignant_melanoma | Substitution - Missense |
c.1465-4A>C; p.?; 12:15515494-15515494 |
liver | carcinoma | Unknown |
c.129A>G; p.S43S; 12:15484027-15484027 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2021G>A; p.G674E; 12:15524943-15524943 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1749_1750AG>TT; p.A584S; 12:15516926-15516927 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1775C>T; p.S592F; 12:15516952-15516952 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1017C>T; p.S339S; 12:15501975-15501975 |
skin | malignant_melanoma | Substitution - coding silent |
c.144C>T; p.D48D; 12:15484042-15484042 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.405A>C; p.T135T; 12:15497300-15497300 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1560T>G; p.P520P; 12:15515593-15515593 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1982C>T; p.S661F; 12:15524904-15524904 |
skin | malignant_melanoma | Substitution - Missense |
c.1735A>G; p.T579A; 12:15516912-15516912 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2088C>A; p.G696G; 12:15526186-15526186 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3176C>T; p.A1059V; 12:15581722-15581722 |
skin | malignant_melanoma | Substitution - Missense |
c.1602G>A; p.K534K; 12:15516779-15516779 |
skin | malignant_melanoma | Substitution - coding silent |
c.823C>T; p.P275S; 12:15501781-15501781 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2302C>T; p.Q768*; 12:15546706-15546706 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1355C>T; p.S452F; 12:15508658-15508658 |
skin | malignant_melanoma | Substitution - Missense |
c.778G>A; p.G260R; 12:15501736-15501736 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2814T>G; p.F938L; 12:15569483-15569483 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.3003C>T; p.Y1001Y; 12:15580702-15580702 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3476A>C; p.H1159P; 12:15589520-15589520 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2814T>G; p.F938L; 12:15569483-15569483 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.691C>A; p.R231S; 12:15501649-15501649 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1714A>G; p.T572A; 12:15516891-15516891 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1843G>A; p.D615N; 12:15520264-15520264 |
parathyroid | carcinoma | Substitution - Missense |
c.1843G>A; p.D615N; 12:15520264-15520264 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2541G>A; p.K847K; 12:15551654-15551654 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1053A>G; p.P351P; 12:15502011-15502011 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2423C>T; p.A808V; 12:15549212-15549212 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2487T>C; p.L829L; 12:15551600-15551600 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.216G>A; p.E72E; 12:15484114-15484114 |
skin | malignant_melanoma | Substitution - coding silent |
c.3053G>A; p.R1018K; 12:15580752-15580752 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1088T>A; p.I363N; 12:15502046-15502046 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.686C>T; p.S229F; 12:15501644-15501644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1904C>T; p.P635L; 12:15524826-15524826 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2257G>A; p.E753K; 12:15546661-15546661 |
skin | malignant_melanoma | Substitution - Missense |
c.868G>T; p.D290Y; 12:15501826-15501826 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1973C>T; p.T658M; 12:15524895-15524895 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2899C>T; p.R967C; 12:15578922-15578922 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3594G>A; p.K1198K; 12:15594984-15594984 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2879C>A; p.P960Q; 12:15578902-15578902 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.1106-1G>C; p.?; 12:15503907-15503907 |
urinary_tract; bladder | carcinoma | Unknown |
c.2879C>A; p.P960Q; 12:15578902-15578902 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2535G>A; p.R845R; 12:15551648-15551648 |
skin | malignant_melanoma | Substitution - coding silent |
c.291G>A; p.L97L; 12:15484189-15484189 |
pancreas | carcinoma | Substitution - coding silent |
c.2138C>T; p.T713I; 12:15526236-15526236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1339A>G; p.T447A; 12:15508642-15508642 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1183delA; p.K395fs*4; 12:15503985-15503985 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.3410G>T; p.S1137I; 12:15587051-15587051 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>T; p.V104L; 12:15484208-15484208 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.764C>T; p.S255L; 12:15501722-15501722 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1684G>T; p.V562L; 12:15516861-15516861 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2717A>T; p.K906I; 12:15565598-15565598 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2921A>G; p.Y974C; 12:15580039-15580039 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2785G>A; p.D929N; 12:15569454-15569454 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.3262G>A; p.E1088K; 12:15586903-15586903 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.963C>T; p.Y321Y; 12:15501921-15501921 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.379T>C; p.Y127H; 12:15497274-15497274 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.4G>T; p.G2W; 12:15322730-15322730 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2741T>G; p.L914R; 12:15565622-15565622 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.295G>C; p.V99L; 12:15484193-15484193 |
breast | carcinoma | Substitution - Missense |
c.3208G>T; p.E1070*; 12:15581754-15581754 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2342C>T; p.S781F; 12:15549131-15549131 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2805C>A; p.D935E; 12:15569474-15569474 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.19G>A; p.G7R; 12:15322745-15322745 |
skin | malignant_melanoma | Substitution - Missense |
c.204C>T; p.F68F; 12:15484102-15484102 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1929C>T; p.F643F; 12:15524851-15524851 |
skin | malignant_melanoma | Substitution - coding silent |
c.3623T>A; p.V1208D; 12:15595013-15595013 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.953C>T; p.P318L; 12:15501911-15501911 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3363C>T; p.V1121V; 12:15587004-15587004 |
skin; abdomen | malignant_melanoma | Substitution - coding silent |
c.2321C>T; p.S774F; 12:15549110-15549110 |
skin; face | malignant_melanoma | Substitution - Missense |
c.3272A>C; p.D1091A; 12:15586913-15586913 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1244C>A; p.A415E; 12:15504046-15504046 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.265C>T; p.H89Y; 12:15484163-15484163 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.839C>A; p.S280Y; 12:15501797-15501797 |
skin | malignant_melanoma | Substitution - Missense |
c.839C>A; p.S280Y; 12:15501797-15501797 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.839C>A; p.S280Y; 12:15501797-15501797 |
skin | malignant_melanoma | Substitution - Missense |
c.2427C>G; p.V809V; 12:15549216-15549216 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.297G>T; p.V99V; 12:15484195-15484195 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2099A>C; p.N700T; 12:15526197-15526197 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2469C>A; p.I823I; 12:15551582-15551582 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3177C>T; p.A1059A; 12:15581723-15581723 |
skin | malignant_melanoma | Substitution - coding silent |
c.814C>T; p.P272S; 12:15501772-15501772 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1588C>T; p.P530S; 12:15516765-15516765 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2353C>T; p.P785S; 12:15549142-15549142 |
skin | malignant_melanoma | Substitution - Missense |
c.1568C>T; p.P523L; 12:15515601-15515601 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1536G>A; p.R512R; 12:15515569-15515569 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1536G>A; p.R512R; 12:15515569-15515569 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2289G>A; p.Q763Q; 12:15546693-15546693 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.278A>T; p.Y93F; 12:15484176-15484176 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1961G>A; p.G654E; 12:15524883-15524883 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.848G>A; p.W283*; 12:15501806-15501806 |
liver | carcinoma | Substitution - Nonsense |
c.3223G>A; p.D1075N; 12:15581769-15581769 |
skin; face | malignant_melanoma | Substitution - Missense |
c.3128G>A; p.R1043K; 12:15580827-15580827 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527C>A; p.T176K; 12:15499460-15499460 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1754C>T; p.A585V; 12:15516931-15516931 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2467A>C; p.I823L; 12:15551580-15551580 |
breast | carcinoma | Substitution - Missense |
c.769G>A; p.D257N; 12:15501727-15501727 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2480C>T; p.A827V; 12:15551593-15551593 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2783A>G; p.K928R; 12:15569452-15569452 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2502T>C; p.I834I; 12:15551615-15551615 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2783A>G; p.K928R; 12:15569452-15569452 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2502T>C; p.I834I; 12:15551615-15551615 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2472C>T; p.S824S; 12:15551585-15551585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3408C>T; p.C1136C; 12:15587049-15587049 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1486A>G; p.I496V; 12:15515519-15515519 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3214G>T; p.E1072*; 12:15581760-15581760 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3488A>G; p.D1163G; 12:15589532-15589532 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2569G>T; p.A857S; 12:15557465-15557465 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3364C>A; p.R1122R; 12:15587005-15587005 |
liver | carcinoma | Substitution - coding silent |
c.1781G>A; p.R594K; 12:15520202-15520202 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3210G>A; p.E1070E; 12:15581756-15581756 |
skin | malignant_melanoma | Substitution - coding silent |
c.3211G>A; p.E1071K; 12:15581757-15581757 |
skin | malignant_melanoma | Substitution - Missense |
c.128C>T; p.S43L; 12:15484026-15484026 |
breast | carcinoma | Substitution - Missense |
c.2900G>A; p.R967H; 12:15578923-15578923 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1501C>T; p.P501S; 12:15515534-15515534 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2900G>A; p.R967H; 12:15578923-15578923 |
thyroid | other; neoplasm | Substitution - Missense |
c.533T>G; p.F178C; 12:15499466-15499466 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2751G>T; p.P917P; 12:15569420-15569420 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.154C>T; p.P52S; 12:15484052-15484052 |
skin | malignant_melanoma | Substitution - Missense |
c.2040G>C; p.K680N; 12:15524962-15524962 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2599G>T; p.E867*; 12:15557495-15557495 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1296G>T; p.L432L; 12:15508599-15508599 |
breast | carcinoma | Substitution - coding silent |
c.2952G>A; p.M984I; 12:15580070-15580070 |
skin | malignant_melanoma | Substitution - Missense |
c.1313A>C; p.H438P; 12:15508616-15508616 |
skin | malignant_melanoma | Substitution - Missense |
c.1147G>T; p.E383*; 12:15503949-15503949 |
breast | carcinoma | Substitution - Nonsense |
c.904A>C; p.S302R; 12:15501862-15501862 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3475C>T; p.H1159Y; 12:15589519-15589519 |
skin | malignant_melanoma | Substitution - Missense |
c.2760G>T; p.L920L; 12:15569429-15569429 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.175A>G; p.K59E; 12:15484073-15484073 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2445G>A; p.E815E; 12:15551558-15551558 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1106-10T>A; p.?; 12:15503898-15503898 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.697G>A; p.V233I; 12:15501655-15501655 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3261C>T; p.D1087D; 12:15586902-15586902 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2968G>T; p.A990S; 12:15580086-15580086 |
thyroid | other; neoplasm | Substitution - Missense |
c.445G>A; p.V149I; 12:15497340-15497340 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.688G>A; p.V230I; 12:15501646-15501646 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.202T>G; p.F68V; 12:15484100-15484100 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.688G>A; p.V230I; 12:15501646-15501646 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2078T>G; p.L693W; 12:15526176-15526176 |
bone; pelvis | chondrosarcoma | Substitution - Missense |
c.688G>A; p.V230I; 12:15501646-15501646 |
oesophagus | carcinoma | Substitution - Missense |
c.991G>C; p.E331Q; 12:15501949-15501949 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.488T>C; p.F163S; 12:15497383-15497383 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1429G>A; p.E477K; 12:15508732-15508732 |
skin | malignant_melanoma | Substitution - Missense |
c.2810A>G; p.K937R; 12:15569479-15569479 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2834T>G; p.L945W; 12:15578857-15578857 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1495C>A; p.L499M; 12:15515528-15515528 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.828G>A; p.S276S; 12:15501786-15501786 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.696C>T; p.I232I; 12:15501654-15501654 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2473G>A; p.V825M; 12:15551586-15551586 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2719A>C; p.N907H; 12:15565600-15565600 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1516C>T; p.Q506*; 12:15515549-15515549 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2443G>C; p.E815Q; 12:15551556-15551556 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2364C>A; p.A788A; 12:15549153-15549153 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2324C>A; p.S775Y; 12:15549113-15549113 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2324C>A; p.S775Y; 12:15549113-15549113 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.300A>G; p.V100V; 12:15484198-15484198 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1276G>A; p.G426R; 12:15508579-15508579 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1330T>G; p.L444V; 12:15508633-15508633 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2425G>A; p.V809I; 12:15549214-15549214 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1314C>T; p.H438H; 12:15508617-15508617 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.121G>C; p.V41L; 12:15484019-15484019 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2519C>T; p.T840I; 12:15551632-15551632 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3009A>G; p.S1003S; 12:15580708-15580708 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1260T>G; p.F420L; 12:15504062-15504062 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>C; p.V104L; 12:15484208-15484208 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.814C>A; p.P272T; 12:15501772-15501772 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.208G>A; p.E70K; 12:15484106-15484106 |
skin | malignant_melanoma | Substitution - Missense |
c.208G>A; p.E70K; 12:15484106-15484106 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2245G>T; p.A749S; 12:15546649-15546649 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3159C>T; p.F1053F; 12:15581705-15581705 |
skin | malignant_melanoma | Substitution - coding silent |
c.3418G>A; p.V1140M; 12:15589462-15589462 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2560G>A; p.E854K; 12:15557456-15557456 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.3121G>C; p.E1041Q; 12:15580820-15580820 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.691C>T; p.R231C; 12:15501649-15501649 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.691C>T; p.R231C; 12:15501649-15501649 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.691C>T; p.R231C; 12:15501649-15501649 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2560G>A; p.E854K; 12:15557456-15557456 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.691C>T; p.R231C; 12:15501649-15501649 |
pancreas | carcinoma | Substitution - Missense |
c.633C>G; p.V211V; 12:15499566-15499566 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1056C>A; p.P352P; 12:15502014-15502014 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1378T>G; p.Y460D; 12:15508681-15508681 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1727A>G; p.E576G; 12:15516904-15516904 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2711+1G>T; p.?; 12:15560277-15560277 |
liver | carcinoma | Unknown |
c.784G>A; p.E262K; 12:15501742-15501742 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2711+1G>T; p.?; 12:15560277-15560277 |
liver | carcinoma | Unknown |
c.1008C>T; p.G336G; 12:15501966-15501966 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2830G>A; p.E944K; 12:15578853-15578853 |
skin | malignant_melanoma | Substitution - Missense |
c.3453G>A; p.R1151R; 12:15589497-15589497 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2224C>A; p.L742M; 12:15546628-15546628 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1464G>A; p.Q488Q; 12:15508767-15508767 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1464G>C; p.Q488H; 12:15508767-15508767 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.1533A>G; p.L511L; 12:15515566-15515566 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3616A>G; p.S1206G; 12:15595006-15595006 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.398C>T; p.P133L; 12:15497293-15497293 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.692G>A; p.R231H; 12:15501650-15501650 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447T>G; p.V149V; 12:15497342-15497342 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2152C>T; p.L718F; 12:15526250-15526250 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3508G>A; p.E1170K; 12:15589552-15589552 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2424C>A; p.A808A; 12:15549213-15549213 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2363C>A; p.A788D; 12:15549152-15549152 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2594C>T; p.S865F; 12:15557490-15557490 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1176G>A; p.G392G; 12:15503978-15503978 |
skin | malignant_melanoma | Substitution - coding silent |
c.2390G>A; p.S797N; 12:15549179-15549179 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.204C>A; p.F68L; 12:15484102-15484102 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.204C>A; p.F68L; 12:15484102-15484102 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1372G>A; p.E458K; 12:15508675-15508675 |
skin | malignant_melanoma | Substitution - Missense |
c.3469C>T; p.R1157W; 12:15589513-15589513 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3365G>A; p.R1122Q; 12:15587006-15587006 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1995G>A; p.M665I; 12:15524917-15524917 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1176G>A; p.G392G; 12:15503978-15503978 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3506C>T; p.S1169L; 12:15589550-15589550 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.805G>A; p.E269K; 12:15501763-15501763 |
NS | NS | Substitution - Missense |
c.2137A>G; p.T713A; 12:15526235-15526235 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1135G>A; p.E379K; 12:15503937-15503937 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1835C>T; p.T612M; 12:15520256-15520256 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1835C>T; p.T612M; 12:15520256-15520256 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.395C>G; p.S132C; 12:15497290-15497290 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.121G>A; p.V41I; 12:15484019-15484019 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3364C>T; p.R1122*; 12:15587005-15587005 |
skin; abdomen | malignant_melanoma | Substitution - Nonsense |
c.3364C>T; p.R1122*; 12:15587005-15587005 |
skin; abdomen | malignant_melanoma | Substitution - Nonsense |
c.1105G>A; p.E369K; 12:15502063-15502063 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.120C>T; p.I40I; 12:15484018-15484018 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.120C>T; p.I40I; 12:15484018-15484018 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1492A>T; p.N498Y; 12:15515525-15515525 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1274C>T; p.S425L; 12:15508577-15508577 |
skin | malignant_melanoma | Substitution - Missense |
c.509-1G>T; p.?; 12:15499441-15499441 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.509-1G>T; p.?; 12:15499441-15499441 |
breast | carcinoma | Unknown |
c.3246G>A; p.R1082R; 12:15581792-15581792 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1254C>T; p.L418L; 12:15504056-15504056 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.496A>T; p.M166L; 12:15497391-15497391 |
skin | malignant_melanoma | Substitution - Missense |
c.1792C>T; p.L598L; 12:15520213-15520213 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3245G>A; p.R1082Q; 12:15581791-15581791 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1147G>A; p.E383K; 12:15503949-15503949 |
skin | malignant_melanoma | Substitution - Missense |
c.2711G>T; p.W904L; 12:15560276-15560276 |
liver | carcinoma | Substitution - Missense |
c.2711G>T; p.W904L; 12:15560276-15560276 |
liver | carcinoma | Substitution - Missense |
c.2956G>A; p.E986K; 12:15580074-15580074 |
skin | malignant_melanoma | Substitution - Missense |
c.2324C>T; p.S775F; 12:15549113-15549113 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3010C>T; p.P1004S; 12:15580709-15580709 |
NS | malignant_melanoma | Substitution - Missense |
c.2249A>G; p.D750G; 12:15546653-15546653 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.490C>T; p.R164W; 12:15497385-15497385 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.851C>T; p.P284L; 12:15501809-15501809 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.357A>G; p.L119L; 12:15497252-15497252 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3206C>T; p.S1069L; 12:15581752-15581752 |
skin | malignant_melanoma | Substitution - Missense |
c.357A>G; p.L119L; 12:15497252-15497252 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2698T>C; p.Y900H; 12:15560263-15560263 |
thyroid | carcinoma | Substitution - Missense |
c.1810T>C; p.Y604H; 12:15520231-15520231 |
breast | carcinoma | Substitution - Missense |
c.824C>T; p.P275L; 12:15501782-15501782 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1632G>A; p.T544T; 12:15516809-15516809 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2707C>T; p.P903S; 12:15560272-15560272 |
skin | malignant_melanoma | Substitution - Missense |
c.881C>T; p.T294M; 12:15501839-15501839 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2830-1G>A; p.?; 12:15578852-15578852 |
skin | malignant_melanoma | Unknown |
c.452C>A; p.T151K; 12:15497347-15497347 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2988C>A; p.N996K; 12:15580106-15580106 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3417C>A; p.G1139G; 12:15589461-15589461 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |