| Gene ID | 7297 |
| Symbol | TYK2 |
| Synonymous | IMD35|JTK1 |
| Full name | tyrosine kinase 2 |
| Gene description | non-receptor tyrosine-protein kinase TYK2 |
| Cytoband | 19p13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:176941; HGNC:HGNC:12440; Ensembl:ENSG00000105397; HPRD:01490; Vega:OTTHUMG00000166373 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2039G>T; p.G680V; 19:10361519-10361519 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2039G>T; p.G680V; 19:10361519-10361519 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181G>A; p.S394N; 19:10364879-10364879 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.706A>G; p.N236D; 19:10365822-10365822 |
prostate | carcinoma | Substitution - Missense |
c.3201-8C>T; p.?; 19:10352559-10352559 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.769G>T; p.V257F; 19:10365759-10365759 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.864G>A; p.G288G; 19:10365664-10365664 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2733C>T; p.V911V; 19:10354217-10354217 |
skin | malignant_melanoma | Substitution - coding silent |
c.2230C>T; p.R744W; 19:10358084-10358084 |
breast | carcinoma | Substitution - Missense |
c.3429+1G>T; p.?; 19:10351051-10351051 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.3429+1G>T; p.?; 19:10351051-10351051 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.217C>G; p.L73V; 19:10368395-10368395 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2068G>T; p.V690L; 19:10359282-10359282 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.217C>G; p.L73V; 19:10368395-10368395 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3325C>T; p.L1109F; 19:10351156-10351156 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1480C>T; p.P494S; 19:10362453-10362453 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2384T>C; p.M795T; 19:10357846-10357846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2618-1G>C; p.?; 19:10354610-10354610 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.667A>G; p.I223V; 19:10365861-10365861 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.339T>G; p.H113Q; 19:10368181-10368181 |
thyroid | other; neoplasm | Substitution - Missense |
c.959G>T; p.G320V; 19:10365569-10365569 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2434G>T; p.E812*; 19:10357796-10357796 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2108G>T; p.R703L; 19:10359242-10359242 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2700C>T; p.I900I; 19:10354527-10354527 |
skin | malignant_melanoma | Substitution - coding silent |
c.735C>T; p.F245F; 19:10365793-10365793 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1124C>T; p.A375V; 19:10364936-10364936 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.3315delC; p.T1106fs*7; 19:10352437-10352437 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2183A>G; p.K728R; 19:10358131-10358131 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2184G>T; p.K728N; 19:10358130-10358130 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3156C>T; p.H1052H; 19:10352970-10352970 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3156C>T; p.H1052H; 19:10352970-10352970 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.115G>A; p.G39S; 19:10378292-10378292 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.821G>A; p.R274H; 19:10365707-10365707 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1035_1036insG; p.N346fs*34; 19:10365024-10365025 |
breast | carcinoma | Insertion - Frameshift |
c.1565C>T; p.S522F; 19:10362368-10362368 |
skin | malignant_melanoma | Substitution - Missense |
c.1677C>A; p.S559S; 19:10362174-10362174 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2902G>A; p.D968N; 19:10354048-10354048 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1168G>T; p.E390*; 19:10364892-10364892 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Nonsense |
c.2404G>T; p.A802S; 19:10357826-10357826 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1897C>T; p.R633C; 19:10361832-10361832 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2385G>A; p.M795I; 19:10357845-10357845 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2245G>C; p.E749Q; 19:10358069-10358069 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2719C>A; p.H907N; 19:10354231-10354231 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1579C>T; p.R527W; 19:10362354-10362354 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2044G>C; p.E682Q; 19:10361514-10361514 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3227A>G; p.Y1076C; 19:10352525-10352525 |
skin | malignant_melanoma | Substitution - Missense |
c.2996A>G; p.Q999R; 19:10353559-10353559 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2102G>C; p.R701T; 19:10359248-10359248 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.309C>T; p.F103F; 19:10368303-10368303 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.417G>T; p.Q139H; 19:10368103-10368103 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1779C>T; p.S593S; 19:10361950-10361950 |
liver | carcinoma | Substitution - coding silent |
c.1779C>T; p.S593S; 19:10361950-10361950 |
liver | carcinoma | Substitution - coding silent |
c.1501C>T; p.R501W; 19:10362432-10362432 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3290A>G; p.H1097R; 19:10352462-10352462 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2383A>G; p.M795V; 19:10357847-10357847 |
ovary | other; neoplasm | Substitution - Missense |
c.3290A>G; p.H1097R; 19:10352462-10352462 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.490G>A; p.V164M; 19:10366556-10366556 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.753C>T; p.S251S; 19:10365775-10365775 |
skin | malignant_melanoma | Substitution - coding silent |
c.1126T>C; p.Y376H; 19:10364934-10364934 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3168C>T; p.R1056R; 19:10352958-10352958 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2436G>C; p.E812D; 19:10357794-10357794 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2176G>A; p.E726K; 19:10358138-10358138 |
skin | malignant_melanoma | Substitution - Missense |
c.3539C>T; p.A1180V; 19:10350859-10350859 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.3159_3160GT>CC; p.E1053_Y1054>DH; 19:10352966-10352967 |
ovary | carcinoma; serous_carcinoma | Complex - compound substitution |
c.637G>A; p.D213N; 19:10365891-10365891 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1264G>A; p.G422S; 19:10364717-10364717 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1264G>A; p.G422S; 19:10364717-10364717 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1264G>A; p.G422S; 19:10364717-10364717 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1264G>A; p.G422S; 19:10364717-10364717 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1778C>G; p.S593C; 19:10361951-10361951 |
liver | carcinoma | Substitution - Missense |
c.1778C>G; p.S593C; 19:10361951-10361951 |
liver | carcinoma | Substitution - Missense |
c.2224C>T; p.L742L; 19:10358090-10358090 |
pancreas | carcinoma | Substitution - coding silent |
c.2224C>T; p.L742L; 19:10358090-10358090 |
pancreas | carcinoma | Substitution - coding silent |
c.1331T>G; p.V444G; 19:10364650-10364650 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2725G>A; p.G909S; 19:10354225-10354225 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.3160T>C; p.Y1054H; 19:10352966-10352966 |
ovary | other; neoplasm | Substitution - Missense |
c.2858C>T; p.T953M; 19:10354092-10354092 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3160T>C; p.Y1054H; 19:10352966-10352966 |
ovary | other; neoplasm | Substitution - Missense |
c.3406C>A; p.R1136R; 19:10351075-10351075 |
pancreas | carcinoma | Substitution - coding silent |
c.2869G>T; p.E957*; 19:10354081-10354081 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.1576G>A; p.V526I; 19:10362357-10362357 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3046G>A; p.A1016T; 19:10353080-10353080 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1038C>T; p.N346N; 19:10365022-10365022 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.727C>T; p.R243W; 19:10365801-10365801 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1807G>A; p.V603M; 19:10361922-10361922 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.727C>T; p.R243W; 19:10365801-10365801 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.231C>T; p.F77F; 19:10368381-10368381 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1398C>T; p.P466P; 19:10362627-10362627 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1398C>T; p.P466P; 19:10362627-10362627 |
ovary | other; neoplasm | Substitution - coding silent |
c.288T>C; p.D96D; 19:10368324-10368324 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3287C>T; p.T1096M; 19:10352465-10352465 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3048G>A; p.A1016A; 19:10353078-10353078 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1631G>T; p.C544F; 19:10362302-10362302 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.138C>T; p.F46F; 19:10378269-10378269 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1486G>A; p.G496S; 19:10362447-10362447 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.138C>T; p.F46F; 19:10378269-10378269 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2051T>G; p.I684S; 19:10359299-10359299 |
breast | carcinoma | Substitution - Missense |
c.943G>A; p.E315K; 19:10365585-10365585 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2051T>G; p.I684S; 19:10359299-10359299 |
breast | carcinoma | Substitution - Missense |
c.3315_3316insC; p.T1106fs*5; 19:10352436-10352437 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2051T>G; p.I684S; 19:10359299-10359299 |
prostate | adenoma | Substitution - Missense |
c.1084G>T; p.V362F; 19:10364976-10364976 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.943G>A; p.E315K; 19:10365585-10365585 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3315_3316insC; p.T1106fs*5; 19:10352436-10352437 |
breast | carcinoma | Insertion - Frameshift |
c.3334A>G; p.I1112V; 19:10351147-10351147 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3334A>G; p.I1112V; 19:10351147-10351147 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2823C>G; p.R941R; 19:10354127-10354127 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3306G>T; p.Q1102H; 19:10352446-10352446 |
skin | malignant_melanoma | Substitution - Missense |
c.3456G>T; p.W1152C; 19:10350942-10350942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2603G>T; p.R868L; 19:10356582-10356582 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2707C>T; p.L903L; 19:10354520-10354520 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1248C>T; p.F416F; 19:10364733-10364733 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.756G>A; p.Q252Q; 19:10365772-10365772 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1248C>T; p.F416F; 19:10364733-10364733 |
skin | malignant_melanoma | Substitution - coding silent |
c.1518C>T; p.P506P; 19:10362415-10362415 |
skin | malignant_melanoma | Substitution - coding silent |
c.3080G>A; p.R1027H; 19:10353046-10353046 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2591G>A; p.R864H; 19:10356594-10356594 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3080G>A; p.R1027H; 19:10353046-10353046 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1207C>A; p.L403M; 19:10364853-10364853 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1683C>G; p.L561L; 19:10362168-10362168 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1341C>T; p.I447I; 19:10364640-10364640 |
skin | malignant_melanoma | Substitution - coding silent |
c.2855G>A; p.R952H; 19:10354095-10354095 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1908G>C; p.E636D; 19:10361821-10361821 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3476G>A; p.R1159H; 19:10350922-10350922 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2375G>T; p.S792I; 19:10357855-10357855 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1898G>A; p.R633H; 19:10361831-10361831 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.1898G>A; p.R633H; 19:10361831-10361831 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1467G>A; p.Q489Q; 19:10362558-10362558 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2895C>T; p.C965C; 19:10354055-10354055 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.317+8G>A; p.?; 19:10368287-10368287 |
urinary_tract; bladder | carcinoma | Unknown |
c.403G>C; p.D135H; 19:10368117-10368117 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.401C>T; p.S134L; 19:10368119-10368119 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3173G>A; p.R1058H; 19:10352953-10352953 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1792G>A; p.G598S; 19:10361937-10361937 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1087G>A; p.G363S; 19:10364973-10364973 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.513G>A; p.S171S; 19:10366533-10366533 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.840G>C; p.L280L; 19:10365688-10365688 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1106C>T; p.P369L; 19:10364954-10364954 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1570C>T; p.P524S; 19:10362363-10362363 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1009G>A; p.E337K; 19:10365519-10365519 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2295C>T; p.G765G; 19:10358019-10358019 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3157G>A; p.E1053K; 19:10352969-10352969 |
breast | carcinoma | Substitution - Missense |
c.1590G>T; p.G530G; 19:10362343-10362343 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.225C>T; p.A75A; 19:10368387-10368387 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.692G>A; p.R231Q; 19:10365836-10365836 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3122A>C; p.D1041A; 19:10353004-10353004 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2176-1G>A; p.?; 19:10358139-10358139 |
skin | malignant_melanoma | Unknown |
c.2195A>G; p.H732R; 19:10358119-10358119 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2195A>G; p.H732R; 19:10358119-10358119 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.658C>T; p.R220C; 19:10365870-10365870 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2195A>G; p.H732R; 19:10358119-10358119 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2289C>T; p.G763G; 19:10358025-10358025 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2289C>T; p.G763G; 19:10358025-10358025 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2919G>A; p.S973S; 19:10353636-10353636 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1278G>T; p.L426L; 19:10364703-10364703 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1278G>T; p.L426L; 19:10364703-10364703 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.196A>T; p.I66F; 19:10368416-10368416 |
skin | malignant_melanoma | Substitution - Missense |
c.1309G>A; p.E437K; 19:10364672-10364672 |
breast | carcinoma | Substitution - Missense |
c.1037A>C; p.N346T; 19:10365023-10365023 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2521C>T; p.L841L; 19:10356664-10356664 |
liver | carcinoma | Substitution - coding silent |
c.2521C>T; p.L841L; 19:10356664-10356664 |
liver | carcinoma | Substitution - coding silent |
c.1037A>C; p.N346T; 19:10365023-10365023 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1037A>C; p.N346T; 19:10365023-10365023 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1037A>C; p.N346T; 19:10365023-10365023 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.724C>A; p.L242M; 19:10365804-10365804 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2604G>A; p.R868R; 19:10356581-10356581 |
skin | malignant_melanoma | Substitution - coding silent |
c.2161G>A; p.A721T; 19:10359189-10359189 |
skin | malignant_melanoma | Substitution - Missense |
c.2810G>C; p.G937A; 19:10354140-10354140 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.3110T>G; p.V1037G; 19:10353016-10353016 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2516C>T; p.P839L; 19:10356669-10356669 |
skin | malignant_melanoma | Substitution - Missense |
c.3206C>G; p.A1069G; 19:10352546-10352546 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1127A>G; p.Y376C; 19:10364933-10364933 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1327C>G; p.L443V; 19:10364654-10364654 |
breast | carcinoma | Substitution - Missense |
c.2602C>T; p.R868W; 19:10356583-10356583 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.104C>T; p.A35V; 19:10378303-10378303 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1101C>T; p.D367D; 19:10364959-10364959 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3406C>T; p.R1136W; 19:10351075-10351075 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1273C>T; p.R425C; 19:10364708-10364708 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.829G>A; p.V277M; 19:10365699-10365699 |
prostate | carcinoma | Substitution - Missense |
c.3545C>T; p.S1182L; 19:10350853-10350853 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.670C>T; p.R224W; 19:10365858-10365858 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3030C>A; p.G1010G; 19:10353096-10353096 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.3148G>A; p.E1050K; 19:10352978-10352978 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.328C>T; p.R110W; 19:10368192-10368192 |
skin | malignant_melanoma | Substitution - Missense |
c.3148G>A; p.E1050K; 19:10352978-10352978 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.828C>T; p.P276P; 19:10365700-10365700 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.828C>T; p.P276P; 19:10365700-10365700 |
skin | malignant_melanoma | Substitution - coding silent |
c.295C>A; p.L99M; 19:10368317-10368317 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2258C>T; p.P753L; 19:10358056-10358056 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2737T>C; p.L913L; 19:10354213-10354213 |
skin | malignant_melanoma | Substitution - coding silent |
c.2262C>T; p.F754F; 19:10358052-10358052 |
breast | carcinoma | Substitution - coding silent |
c.311G>T; p.R104L; 19:10368301-10368301 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1693C>T; p.R565W; 19:10362158-10362158 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1693C>T; p.R565W; 19:10362158-10362158 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.238C>G; p.Q80E; 19:10368374-10368374 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3247G>C; p.D1083H; 19:10352505-10352505 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2098C>T; p.R700W; 19:10359252-10359252 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2439C>T; p.A813A; 19:10357791-10357791 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.1443C>T; p.Y481Y; 19:10362582-10362582 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1239G>A; p.A413A; 19:10364742-10364742 |
breast | carcinoma | Substitution - coding silent |
c.3471C>T; p.S1157S; 19:10350927-10350927 |
skin | malignant_melanoma | Substitution - coding silent |
c.2579G>A; p.R860H; 19:10356606-10356606 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.317+1G>T; p.?; 19:10368294-10368294 |
lung | carcinoma; adenocarcinoma | Unknown |
c.3318G>A; p.T1106T; 19:10352434-10352434 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1580G>A; p.R527Q; 19:10362353-10362353 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2863T>C; p.Y955H; 19:10354087-10354087 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.811G>T; p.G271C; 19:10365717-10365717 |
skin | malignant_melanoma | Substitution - Missense |
c.44T>C; p.V15A; 19:10378363-10378363 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2683C>T; p.R895C; 19:10354544-10354544 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.3560G>T; p.C1187F; 19:10350838-10350838 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.3036C>A; p.A1012A; 19:10353090-10353090 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1156G>T; p.V386L; 19:10364904-10364904 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.870C>A; p.P290P; 19:10365658-10365658 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1843G>A; p.D615N; 19:10361886-10361886 |
pancreas | carcinoma | Substitution - Missense |
c.880C>T; p.R294W; 19:10365648-10365648 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.3191C>T; p.P1064L; 19:10352935-10352935 |
skin | malignant_melanoma | Substitution - Missense |
c.42C>T; p.P14P; 19:10378365-10378365 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1025G>A; p.S342N; 19:10365035-10365035 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1702C>T; p.R568W; 19:10362149-10362149 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3505C>T; p.L1169L; 19:10350893-10350893 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2785G>A; p.V929M; 19:10354165-10354165 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.582C>A; p.L194L; 19:10366464-10366464 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.972C>G; p.I324M; 19:10365556-10365556 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2940C>T; p.Y980Y; 19:10353615-10353615 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.582C>T; p.L194L; 19:10366464-10366464 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2631C>T; p.V877V; 19:10354596-10354596 |
skin | malignant_melanoma | Substitution - coding silent |
c.2511C>T; p.S837S; 19:10356674-10356674 |
breast | carcinoma | Substitution - coding silent |
c.46G>T; p.G16W; 19:10378361-10378361 |
ovary | other; neoplasm | Substitution - Missense |
c.2716-6G>A; p.?; 19:10354240-10354240 |
stomach | adenocarcinoma | Unknown |
c.163G>A; p.E55K; 19:10378244-10378244 |
eye; uveal_tract | malignant_melanoma; spindle | Substitution - Missense |
c.1722C>G; p.L574L; 19:10362129-10362129 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2895C>A; p.C965*; 19:10354055-10354055 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Nonsense |
c.531C>T; p.H177H; 19:10366515-10366515 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2974C>T; p.R992W; 19:10353581-10353581 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1981C>T; p.L661F; 19:10361577-10361577 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1252T>C; p.S418P; 19:10364729-10364729 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.575G>A; p.C192Y; 19:10366471-10366471 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2458C>T; p.P820S; 19:10357772-10357772 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3149A>G; p.E1050G; 19:10352977-10352977 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3467C>T; p.A1156V; 19:10350931-10350931 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3117C>T; p.I1039I; 19:10353009-10353009 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3117C>T; p.I1039I; 19:10353009-10353009 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2488C>T; p.Q830*; 19:10356697-10356697 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.202C>T; p.P68S; 19:10368410-10368410 |
skin | malignant_melanoma | Substitution - Missense |
c.3117C>T; p.I1039I; 19:10353009-10353009 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1155C>T; p.H385H; 19:10364905-10364905 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2578C>T; p.R860C; 19:10356607-10356607 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2932A>G; p.M978V; 19:10353623-10353623 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3145C>T; p.P1049S; 19:10352981-10352981 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.603C>T; p.P201P; 19:10366443-10366443 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2763C>T; p.D921D; 19:10354187-10354187 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3437A>G; p.H1146R; 19:10350961-10350961 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.893T>A; p.V298E; 19:10365635-10365635 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3055T>C; p.Y1019H; 19:10353071-10353071 |
breast | carcinoma | Substitution - Missense |
c.481G>T; p.V161L; 19:10366565-10366565 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |