| Gene ID | 8658 |
| Symbol | TNKS |
| Synonymous | ARTD5|PARP-5a|PARP5A|PARPL|TIN1|TINF1|TNKS1|pART5 |
| Full name | tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase |
| Gene description | ADP-ribosyltransferase diphtheria toxin-like 5|TANK1|TNKS-1|TRF1-interacting ankyrin-related ADP-ribose polymerase|poly [ADP-ribose] polymerase 5A|tankyrase I|tankyrase-1 |
| Cytoband | 8p23.1 |
| Gene type | protein-coding |
| Synonymous | MIM:603303; HGNC:HGNC:11941; Ensembl:ENSG00000173273; HPRD:04490; Vega:OTTHUMG00000090481 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2708C>T; p.A903V; 8:9748088-9748088 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2708C>T; p.A903V; 8:9748088-9748088 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2758G>A; p.A920T; 8:9748138-9748138 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2758G>A; p.A920T; 8:9748138-9748138 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.2758G>A; p.A920T; 8:9748138-9748138 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.235C>T; p.R79*; 8:9556174-9556174 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2156T>G; p.V719G; 8:9733287-9733287 |
breast | carcinoma | Substitution - Missense |
c.1744G>A; p.A582T; 8:9710215-9710215 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3019G>C; p.A1007P; 8:9751795-9751795 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2850T>G; p.A950A; 8:9751626-9751626 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2498C>T; p.T833I; 8:9735049-9735049 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2842A>G; p.I948V; 8:9751618-9751618 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3447+2T>C; p.?; 8:9764792-9764792 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2899C>T; p.P967S; 8:9751675-9751675 |
skin | malignant_melanoma | Substitution - Missense |
c.1219C>T; p.H407Y; 8:9706203-9706203 |
skin | malignant_melanoma | Substitution - Missense |
c.3554G>T; p.G1185V; 8:9766239-9766239 |
central_nervous_system; thalamus | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.2863G>T; p.A955S; 8:9751639-9751639 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3662G>A; p.S1221N; 8:9766347-9766347 |
small_intestine | carcinoid-endocrine_tumour | Substitution - Missense |
c.2617C>T; p.P873S; 8:9735460-9735460 |
skin; leg | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.3091A>G; p.I1031V; 8:9752564-9752564 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.600G>T; p.R200S; 8:9556539-9556539 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2813C>T; p.T938M; 8:9748193-9748193 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2088C>T; p.R696R; 8:9730976-9730976 |
skin | malignant_melanoma | Substitution - coding silent |
c.1945G>A; p.D649N; 8:9726664-9726664 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1586C>T; p.A529V; 8:9709962-9709962 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3121G>A; p.E1041K; 8:9752594-9752594 |
skin | malignant_melanoma | Substitution - Missense |
c.712A>T; p.M238L; 8:9580197-9580197 |
skin | malignant_melanoma | Substitution - Missense |
c.2913A>G; p.V971V; 8:9751689-9751689 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11C>T; p.S4L; 8:9555950-9555950 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2900C>A; p.P967H; 8:9751676-9751676 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.11C>T; p.S4L; 8:9555950-9555950 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.416C>T; p.S139L; 8:9556355-9556355 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.235C>G; p.R79G; 8:9556174-9556174 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2676C>T; p.Y892Y; 8:9748056-9748056 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.871A>G; p.I291V; 8:9580356-9580356 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2993C>G; p.P998R; 8:9751769-9751769 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.90A>G; p.P30P; 8:9556029-9556029 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2121T>A; p.G707G; 8:9731009-9731009 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.90A>G; p.P30P; 8:9556029-9556029 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.600G>A; p.R200R; 8:9556539-9556539 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2177C>T; p.S726L; 8:9733308-9733308 |
skin | malignant_melanoma | Substitution - Missense |
c.2865C>T; p.A955A; 8:9751641-9751641 |
skin | malignant_melanoma | Substitution - coding silent |
c.3940G>A; p.E1314K; 8:9776692-9776692 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1516delA; p.T508fs*33; 8:9708430-9708430 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2200G>C; p.E734Q; 8:9733331-9733331 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1516delA; p.T508fs*33; 8:9708430-9708430 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1516delA; p.T508fs*33; 8:9708430-9708430 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1937G>A; p.R646H; 8:9726656-9726656 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3045G>A; p.A1015A; 8:9751821-9751821 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2838C>T; p.D946D; 8:9751614-9751614 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1516delA; p.T508fs*33; 8:9708430-9708430 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3045G>A; p.A1015A; 8:9751821-9751821 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2362G>A; p.D788N; 8:9734913-9734913 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1937G>A; p.R646H; 8:9726656-9726656 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3009C>T; p.A1003A; 8:9751785-9751785 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3620T>G; p.M1207R; 8:9766305-9766305 |
skin | malignant_melanoma | Substitution - Missense |
c.1324G>A; p.A442T; 8:9706865-9706865 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1387T>C; p.L463L; 8:9706928-9706928 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3240C>A; p.I1080I; 8:9761602-9761602 |
breast | carcinoma | Substitution - coding silent |
c.2516C>T; p.T839I; 8:9735067-9735067 |
skin; ear | malignant_melanoma | Substitution - Missense |
c.401C>T; p.S134F; 8:9556340-9556340 |
breast | carcinoma | Substitution - Missense |
c.994delG; p.G332fs*9; 8:9615677-9615677 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1114C>A; p.P372T; 8:9704669-9704669 |
NS | NS | Substitution - Missense |
c.366C>A; p.G122G; 8:9556305-9556305 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2608G>A; p.G870S; 8:9735451-9735451 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.145A>G; p.T49A; 8:9556084-9556084 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.145A>G; p.T49A; 8:9556084-9556084 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3166G>T; p.V1056L; 8:9761528-9761528 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2410G>T; p.D804Y; 8:9734961-9734961 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1505T>C; p.L502S; 8:9708419-9708419 |
skin | malignant_melanoma | Substitution - Missense |
c.3132G>T; p.R1044R; 8:9752605-9752605 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.236G>T; p.R79L; 8:9556175-9556175 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.236G>T; p.R79L; 8:9556175-9556175 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2599G>A; p.D867N; 8:9735442-9735442 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1958G>A; p.R653Q; 8:9726677-9726677 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2593G>A; p.A865T; 8:9735436-9735436 |
bone; pelvis | chondrosarcoma | Substitution - Missense |
c.580G>A; p.D194N; 8:9556519-9556519 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1147C>T; p.R383*; 8:9704702-9704702 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1147C>T; p.R383*; 8:9704702-9704702 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1147C>T; p.R383*; 8:9704702-9704702 |
breast | carcinoma | Substitution - Nonsense |
c.1339C>T; p.R447C; 8:9706880-9706880 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1147C>T; p.R383*; 8:9704702-9704702 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1147C>T; p.R383*; 8:9704702-9704702 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1147C>T; p.R383*; 8:9704702-9704702 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1147C>T; p.R383*; 8:9704702-9704702 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1031+1G>T; p.?; 8:9679988-9679988 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2874A>G; p.P958P; 8:9751650-9751650 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3084C>G; p.D1028E; 8:9752557-9752557 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1386A>G; p.T462T; 8:9706927-9706927 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1386A>G; p.T462T; 8:9706927-9706927 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3283C>A; p.P1095T; 8:9763155-9763155 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.625G>A; p.A209T; 8:9556564-9556564 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3474G>C; p.L1158F; 8:9765718-9765718 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1287T>C; p.N429N; 8:9706828-9706828 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2851T>G; p.L951V; 8:9751627-9751627 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2339A>G; p.N780S; 8:9734890-9734890 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2407delG; p.D804fs*49; 8:9734958-9734958 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.1274G>T; p.G425V; 8:9706815-9706815 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2407delG; p.D804fs*49; 8:9734958-9734958 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3703C>T; p.P1235S; 8:9766388-9766388 |
skin | malignant_melanoma | Substitution - Missense |
c.2833-9delT; p.?; 8:9751600-9751600 |
stomach | adenocarcinoma | Unknown |
c.67G>A; p.G23R; 8:9556006-9556006 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.3010G>A; p.V1004I; 8:9751786-9751786 |
thyroid | carcinoma | Substitution - Missense |
c.1579-1G>A; p.?; 8:9709954-9709954 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.3356A>G; p.Q1119R; 8:9763228-9763228 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3446G>A; p.R1149Q; 8:9764789-9764789 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2126A>C; p.D709A; 8:9731014-9731014 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2922C>T; p.A974A; 8:9751698-9751698 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1159_1161delCTT; p.L389delL; 8:9704714-9704716 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - In frame |
c.443C>A; p.S148*; 8:9556382-9556382 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2164C>T; p.H722Y; 8:9733295-9733295 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1658delA; p.N555fs*5; 8:9710034-9710034 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3227G>A; p.R1076H; 8:9761589-9761589 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2758G>T; p.A920S; 8:9748138-9748138 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1100G>A; p.G367E; 8:9680793-9680793 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.912C>T; p.H304H; 8:9615595-9615595 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.605T>G; p.V202G; 8:9556544-9556544 |
thyroid | other; neoplasm | Substitution - Missense |
c.99C>A; p.P33P; 8:9556038-9556038 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1557G>A; p.P519P; 8:9708471-9708471 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3854A>G; p.N1285S; 8:9770219-9770219 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3696A>G; p.T1232T; 8:9766381-9766381 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3854A>G; p.N1285S; 8:9770219-9770219 |
breast | carcinoma | Substitution - Missense |
c.3741A>G; p.R1247R; 8:9770106-9770106 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3126C>T; p.H1042H; 8:9752599-9752599 |
skin | malignant_melanoma | Substitution - coding silent |
c.673+6A>G; p.?; 8:9556618-9556618 |
ovary | other; neoplasm | Unknown |
c.2061C>T; p.P687P; 8:9730949-9730949 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2057C>T; p.T686M; 8:9730945-9730945 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1109C>T; p.S370L; 8:9704664-9704664 |
skin | malignant_melanoma | Substitution - Missense |
c.2238G>A; p.A746A; 8:9733369-9733369 |
ovary | other; neoplasm | Substitution - coding silent |
c.3074C>T; p.A1025V; 8:9752547-9752547 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2232T>C; p.N744N; 8:9733363-9733363 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3383C>G; p.T1128S; 8:9764726-9764726 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1879G>T; p.A627S; 8:9720503-9720503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3397A>G; p.R1133G; 8:9764740-9764740 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3322T>G; p.L1108V; 8:9763194-9763194 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3966C>T; p.A1322A; 8:9776718-9776718 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3966C>T; p.A1322A; 8:9776718-9776718 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3071-1G>C; p.?; 8:9752543-9752543 |
lung | carcinoma; adenocarcinoma | Unknown |
c.886G>C; p.D296H; 8:9580371-9580371 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.157C>A; p.L53M; 8:9556096-9556096 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2598G>T; p.Q866H; 8:9735441-9735441 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2058G>A; p.T686T; 8:9730946-9730946 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2872C>A; p.P958T; 8:9751648-9751648 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1610G>A; p.R537H; 8:9709986-9709986 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3643G>T; p.A1215S; 8:9766328-9766328 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3850G>A; p.V1284I; 8:9770215-9770215 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3381T>C; p.S1127S; 8:9764724-9764724 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3447+3A>G; p.?; 8:9764793-9764793 |
pancreas | carcinoma | Unknown |
c.3464A>T; p.N1155I; 8:9765708-9765708 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1385C>T; p.T462I; 8:9706926-9706926 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.84G>T; p.P28P; 8:9556023-9556023 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2075C>T; p.A692V; 8:9730963-9730963 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.308C>T; p.P103L; 8:9556247-9556247 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3878T>C; p.V1293A; 8:9770243-9770243 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2733C>G; p.A911A; 8:9748113-9748113 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3481C>T; p.R1161W; 8:9765725-9765725 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3964G>C; p.A1322P; 8:9776716-9776716 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3599G>A; p.R1200Q; 8:9766284-9766284 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3967G>A; p.A1323T; 8:9776719-9776719 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3130C>T; p.R1044W; 8:9752603-9752603 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3130C>T; p.R1044W; 8:9752603-9752603 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1166T>G; p.L389R; 8:9704721-9704721 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1327G>A; p.A443T; 8:9706868-9706868 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1202+2T>C; p.?; 8:9704759-9704759 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.3616G>A; p.G1206R; 8:9766301-9766301 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.532G>A; p.A178T; 8:9556471-9556471 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3811G>A; p.A1271T; 8:9770176-9770176 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3073G>T; p.A1025S; 8:9752546-9752546 |
skin | malignant_melanoma | Substitution - Missense |
c.3630C>T; p.A1210A; 8:9766315-9766315 |
skin | malignant_melanoma | Substitution - coding silent |
c.898+1G>A; p.?; 8:9580384-9580384 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.583G>A; p.V195M; 8:9556522-9556522 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1732C>T; p.H578Y; 8:9710203-9710203 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.3008C>T; p.A1003V; 8:9751784-9751784 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1148G>A; p.R383Q; 8:9704703-9704703 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1148G>A; p.R383Q; 8:9704703-9704703 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1392C>T; p.V464V; 8:9706933-9706933 |
bone; pelvis | chondrosarcoma | Substitution - coding silent |
c.1925G>A; p.S642N; 8:9726644-9726644 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.3739A>G; p.R1247G; 8:9766424-9766424 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2070C>T; p.F690F; 8:9730958-9730958 |
breast | carcinoma | Substitution - coding silent |
c.2070C>T; p.F690F; 8:9730958-9730958 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1936C>T; p.R646C; 8:9726655-9726655 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3543G>C; p.M1181I; 8:9765787-9765787 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1609C>T; p.R537C; 8:9709985-9709985 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1565A>T; p.H522L; 8:9708479-9708479 |
skin | malignant_melanoma | Substitution - Missense |
c.3538C>T; p.R1180C; 8:9765782-9765782 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2960C>T; p.S987L; 8:9751736-9751736 |
skin | malignant_melanoma | Substitution - Missense |
c.1657_1658insA; p.N555fs*2; 8:9710033-9710034 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2047C>T; p.R683W; 8:9730935-9730935 |
skin | malignant_melanoma | Substitution - Missense |
c.858G>A; p.L286L; 8:9580343-9580343 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1121A>G; p.H374R; 8:9704676-9704676 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3846G>A; p.P1282P; 8:9770211-9770211 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3702C>T; p.C1234C; 8:9766387-9766387 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3420C>T; p.G1140G; 8:9764763-9764763 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3631G>A; p.G1211R; 8:9766316-9766316 |
prostate | carcinoma | Substitution - Missense |
c.3389G>T; p.R1130L; 8:9764732-9764732 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3204A>G; p.I1068M; 8:9761566-9761566 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2533+1G>T; p.?; 8:9735085-9735085 |
lung | carcinoma; adenocarcinoma | Unknown |
c.420T>G; p.S140S; 8:9556359-9556359 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1667A>G; p.K556R; 8:9710043-9710043 |
liver | carcinoma | Substitution - Missense |
c.2713A>T; p.T905S; 8:9748093-9748093 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1667A>G; p.K556R; 8:9710043-9710043 |
liver | carcinoma | Substitution - Missense |
c.3152A>G; p.Q1051R; 8:9752625-9752625 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1820G>A; p.C607Y; 8:9720444-9720444 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.2494G>T; p.D832Y; 8:9735045-9735045 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1618G>C; p.V540L; 8:9709994-9709994 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3445C>T; p.R1149*; 8:9764788-9764788 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3445C>T; p.R1149*; 8:9764788-9764788 |
breast | carcinoma | Substitution - Nonsense |
c.2913_2916delAGTG; p.S973fs*3; 8:9751689-9751692 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2775T>A; p.H925Q; 8:9748155-9748155 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3658A>G; p.K1220E; 8:9766343-9766343 |
bone; rib | chondrosarcoma | Substitution - Missense |
c.2200G>A; p.E734K; 8:9733331-9733331 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1885C>T; p.Q629*; 8:9720509-9720509 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2453G>C; p.R818T; 8:9735004-9735004 |
skin | malignant_melanoma | Substitution - Missense |
c.1180G>A; p.D394N; 8:9704735-9704735 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |