| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 7015 |
Name | TERT |
Synonymous | telomerase reverse transcriptase;TERT;telomerase reverse transcriptase |
Definition | telomerase catalytic subunit|telomerase-associated protein 2 |
Position | 5p15.33 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.358C>T; p.R120C; 5:1294528-1294528 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1-53_1-30del24; p.?; 5:1294961-1294984 |
thyroid | carcinoma; Hurthle_cell_carcinoma | Unknown |
c.2097C>T; p.A699A; 5:1279324-1279324 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1841C>T; p.P614L; 5:1280267-1280267 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1841C>T; p.P614L; 5:1280267-1280267 |
skin | malignant_melanoma | Substitution - Missense |
c.2420A>G; p.D807G; 5:1271167-1271167 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2420A>G; p.D807G; 5:1271167-1271167 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1-57A>C; p.?; 5:1294988-1294988 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
skin; trunk | malignant_melanoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-45G>T; p.?; 5:1294976-1294976 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
skin | malignant_melanoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-45G>T; p.?; 5:1294976-1294976 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-45G>T; p.?; 5:1294976-1294976 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
skin; trunk | malignant_melanoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-45G>T; p.?; 5:1294976-1294976 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-57A>C; p.?; 5:1294988-1294988 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1281C>T; p.A427A; 5:1293605-1293605 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2751G>A; p.T917T; 5:1264496-1264496 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2564C>T; p.A855V; 5:1268538-1268538 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1-242C>T; p.?; 5:1295173-1295173 |
skin; lower_extremity | malignant_melanoma | Unknown |
c.1336C>T; p.R446C; 5:1293550-1293550 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1-125C>T; p.?; 5:1295056-1295056 |
skin; trunk | malignant_melanoma | Unknown |
c.2786C>T; p.P929L; 5:1264461-1264461 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1457G>A; p.R486H; 5:1293429-1293429 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2666G>A; p.R889Q; 5:1264581-1264581 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2576G>A; p.R859Q; 5:1268526-1268526 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1-144C>T; p.?; 5:1295075-1295075 |
skin; acral | malignant_melanoma | Unknown |
c.1450G>A; p.E484K; 5:1293436-1293436 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2370C>T; p.V790V; 5:1272197-1272197 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3302C>T; p.T1101M; 5:1253825-1253825 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2266C>T; p.R756C; 5:1278661-1278661 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3198C>T; p.P1066P; 5:1254465-1254465 |
skin | malignant_melanoma | Substitution - coding silent |
c.751G>A; p.V251I; 5:1294135-1294135 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.751G>A; p.V251I; 5:1294135-1294135 |
pancreas | carcinoma | Substitution - Missense |
c.1912T>C; p.Y638H; 5:1280196-1280196 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2009C>T; p.A670V; 5:1279412-1279412 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2221G>A; p.V741M; 5:1278706-1278706 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1517A>G; p.Q506R; 5:1293369-1293369 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1319A>G; p.E440G; 5:1293567-1293567 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1270G>A; p.G424S; 5:1293616-1293616 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2250C>T; p.A750A; 5:1278677-1278677 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2355G>T; p.P785P; 5:1272212-1272212 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2580C>T; p.D860D; 5:1268522-1268522 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2086C>T; p.R696C; 5:1279335-1279335 |
oesophagus | carcinoma | Substitution - Missense |
c.933G>A; p.S311S; 5:1293953-1293953 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.885C>T; p.S295S; 5:1294001-1294001 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3150G>T; p.K1050N; 5:1255294-1255294 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1317G>T; p.E439D; 5:1293569-1293569 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2775C>T; p.H925H; 5:1264472-1264472 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2775C>T; p.H925H; 5:1264472-1264472 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2092C>A; p.R698R; 5:1279329-1279329 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.3044G>T; p.C1015F; 5:1255400-1255400 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3057C>T; p.L1019L; 5:1255387-1255387 |
skin | malignant_melanoma | Substitution - coding silent |
c.1233G>A; p.T411T; 5:1293653-1293653 |
pancreas | carcinoma | Substitution - coding silent |
c.2538C>T; p.Y846Y; 5:1268564-1268564 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2758G>A; p.V920I; 5:1264489-1264489 |
skin | malignant_melanoma | Substitution - Missense |
c.255G>T; p.L85L; 5:1294631-1294631 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.2874C>G; p.L958L; 5:1260570-1260570 |
breast | carcinoma | Substitution - coding silent |
c.1200C>T; p.H400H; 5:1293686-1293686 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1695G>A; p.E565E; 5:1282503-1282503 |
skin | malignant_melanoma | Substitution - coding silent |
c.1779G>C; p.L593F; 5:1280329-1280329 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1590G>A; p.P530P; 5:1282608-1282608 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.336delC; p.E113fs*15; 5:1294550-1294550 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1-100C>T; p.?; 5:1295031-1295031 |
skin; neck | carcinoma; basal_cell_carcinoma | Unknown |
c.2436C>T; p.F812F; 5:1271151-1271151 |
skin | malignant_melanoma | Substitution - coding silent |
c.3154G>A; p.A1052T; 5:1255290-1255290 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1566G>A; p.R522R; 5:1293320-1293320 |
skin | malignant_melanoma | Substitution - coding silent |
c.2263G>A; p.V755I; 5:1278664-1278664 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1527G>A; p.T509T; 5:1293359-1293359 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1958G>A; p.R653H; 5:1279463-1279463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2361G>A; p.R787R; 5:1272206-1272206 |
skin | malignant_melanoma | Substitution - coding silent |
c.2849C>A; p.A950D; 5:1260595-1260595 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2849C>A; p.A950D; 5:1260595-1260595 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1131C>A; p.R377R; 5:1293755-1293755 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1131C>A; p.R377R; 5:1293755-1293755 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.2015G>A; p.R672H; 5:1279406-1279406 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.694C>G; p.L232V; 5:1294192-1294192 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.1158C>A; p.Y386*; 5:1293728-1293728 |
breast | carcinoma | Substitution - Nonsense |
c.2217C>T; p.Y739Y; 5:1278710-1278710 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2272G>A; p.A758T; 5:1278655-1278655 |
skin | malignant_melanoma | Substitution - Missense |
c.2915G>A; p.R972H; 5:1260529-1260529 |
kidney | other; neoplasm | Substitution - Missense |
c.2329G>A; p.V777M; 5:1272238-1272238 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1604G>A; p.R535H; 5:1282594-1282594 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3084C>A; p.N1028K; 5:1255360-1255360 |
skin | malignant_melanoma | Substitution - Missense |
c.2283C>T; p.S761S; 5:1278644-1278644 |
skin | malignant_melanoma | Substitution - coding silent |
c.891A>G; p.P297P; 5:1293995-1293995 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1-191C>T; p.?; 5:1294982-1294982 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.2401G>T; p.A801S; 5:1271186-1271186 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.835G>A; p.A279T; 5:1294051-1294051 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2755T>A; p.F919I; 5:1264492-1264492 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.648G>T; p.L216L; 5:1294238-1294238 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1882G>A; p.D628N; 5:1280226-1280226 |
skin | malignant_melanoma | Substitution - Missense |
c.1-129G>C; p.?; 5:1294976-1294976 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.3318G>A; p.K1106K; 5:1253809-1253809 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3105C>T; p.V1035V; 5:1255339-1255339 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2262C>T; p.H754H; 5:1278665-1278665 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1782G>A; p.K594K; 5:1280326-1280326 |
skin | malignant_melanoma | Substitution - coding silent |
c.3267C>T; p.Y1089Y; 5:1254396-1254396 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2288T>G; p.V763G; 5:1272279-1272279 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.278C>T; p.A93V; 5:1294608-1294608 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1-163G>C; p.?; 5:1294971-1294971 |
lung | carcinoma; adenocarcinoma | Unknown |
c.3329C>T; p.T1110M; 5:1253798-1253798 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2456G>A; p.R819H; 5:1271131-1271131 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2371G>A; p.V791I; 5:1272196-1272196 |
pancreas | carcinoma | Substitution - Missense |
c.1933T>C; p.F645L; 5:1280175-1280175 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1805C>T; p.S602L; 5:1280303-1280303 |
thyroid | carcinoma | Substitution - Missense |
c.2401G>A; p.A801T; 5:1271186-1271186 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1307C>T; p.A436V; 5:1293579-1293579 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1936C>T; p.R646C; 5:1280172-1280172 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2852G>A; p.R951Q; 5:1260592-1260592 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1936C>T; p.R646C; 5:1280172-1280172 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2852G>A; p.R951Q; 5:1260592-1260592 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3139C>T; p.L1047L; 5:1255305-1255305 |
skin | malignant_melanoma | Substitution - coding silent |
c.2152G>A; p.D718N; 5:1278775-1278775 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2689G>A; p.V897M; 5:1264558-1264558 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2009C>A; p.A670E; 5:1279412-1279412 |
NS | malignant_melanoma | Substitution - Missense |
c.1544G>T; p.R515L; 5:1293342-1293342 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3290G>T; p.R1097M; 5:1254373-1254373 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3096C>T; p.F1032F; 5:1255348-1255348 |
skin | malignant_melanoma | Substitution - coding silent |
c.1626C>A; p.A542A; 5:1282572-1282572 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3096C>T; p.F1032F; 5:1255348-1255348 |
skin | malignant_melanoma | Substitution - coding silent |
c.2260C>T; p.H754Y; 5:1278667-1278667 |
liver | carcinoma | Substitution - Missense |
c.2260C>T; p.H754Y; 5:1278667-1278667 |
liver | carcinoma | Substitution - Missense |
c.1928G>A; p.R643K; 5:1280180-1280180 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2733C>T; p.D911D; 5:1264514-1264514 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2227C>T; p.R743W; 5:1278700-1278700 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2733C>T; p.D911D; 5:1264514-1264514 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2733C>T; p.D911D; 5:1264514-1264514 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3186C>T; p.A1062A; 5:1254477-1254477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.601C>T; p.R201W; 5:1294285-1294285 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1337G>A; p.R446H; 5:1293549-1293549 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1561C>T; p.R521C; 5:1293325-1293325 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.198_199insC; p.A67fs*125; 5:1294791-1294792 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1-159C>T; p.?; 5:1295090-1295090 |
skin; face | carcinoma; basal_cell_carcinoma | Unknown |
c.2501G>T; p.G834V; 5:1268601-1268601 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3371C>A; p.P1124H; 5:1253756-1253756 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2328C>T; p.F776F; 5:1272239-1272239 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2328C>T; p.F776F; 5:1272239-1272239 |
skin | malignant_melanoma | Substitution - coding silent |
c.2328C>T; p.F776F; 5:1272239-1272239 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2328C>T; p.F776F; 5:1272239-1272239 |
skin | malignant_melanoma | Substitution - coding silent |
c.3363G>A; p.P1121P; 5:1253764-1253764 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3363G>A; p.P1121P; 5:1253764-1253764 |
skin | malignant_melanoma | Substitution - coding silent |
c.915G>A; p.A305A; 5:1293971-1293971 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.915G>A; p.A305A; 5:1293971-1293971 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.915G>A; p.A305A; 5:1293971-1293971 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1284G>A; p.R428R; 5:1293602-1293602 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1-58C>T; p.?; 5:1294989-1294989 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1-58C>T; p.?; 5:1294989-1294989 |
skin; acral | malignant_melanoma | Unknown |
c.2793C>T; p.C931C; 5:1264454-1264454 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2511C>T; p.L837L; 5:1268591-1268591 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - coding silent |
c.884C>A; p.S295Y; 5:1294002-1294002 |
liver | carcinoma | Substitution - Missense |
c.884C>A; p.S295Y; 5:1294002-1294002 |
liver | carcinoma | Substitution - Missense |
c.2633C>A; p.T878N; 5:1266485-1266485 |
breast | carcinoma | Substitution - Missense |
c.1-154C>T; p.?; 5:1295085-1295085 |
skin; lower_extremity | malignant_melanoma | Unknown |
c.1409G>A; p.R470H; 5:1293477-1293477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1516C>T; p.Q506*; 5:1293370-1293370 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1409G>A; p.R470H; 5:1293477-1293477 |
thyroid | carcinoma | Substitution - Missense |
c.620T>A; p.V207D; 5:1294266-1294266 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2177C>T; p.T726M; 5:1278750-1278750 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1-54C>A; p.?; 5:1294985-1294985 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.2661G>T; p.L887L; 5:1264586-1264586 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2784C>T; p.F928F; 5:1264463-1264463 |
skin | malignant_melanoma | Substitution - coding silent |
c.1501G>A; p.A501T; 5:1293385-1293385 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2146G>A; p.A716T; 5:1278781-1278781 |
prostate | carcinoma | Substitution - Missense |
c.2147C>T; p.A716V; 5:1278780-1278780 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.31C>A; p.R11S; 5:1294959-1294959 |
liver | carcinoma | Substitution - Missense |
c.3015C>T; p.L1005L; 5:1258615-1258615 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.31C>A; p.R11S; 5:1294959-1294959 |
liver | carcinoma | Substitution - Missense |
c.2449G>A; p.A817T; 5:1271138-1271138 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1-187C>T; p.?; 5:1295118-1295118 |
skin; acral | malignant_melanoma | Unknown |
c.2254C>A; p.H752N; 5:1278673-1278673 |
skin | malignant_melanoma | Substitution - Missense |
c.1539C>T; p.S513S; 5:1293347-1293347 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2169delC; p.D723fs*44; 5:1278758-1278758 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.2169delC; p.D723fs*44; 5:1278758-1278758 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.3284C>G; p.S1095*; 5:1254379-1254379 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2178G>A; p.T726T; 5:1278749-1278749 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3081G>T; p.K1027N; 5:1255363-1255363 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3112G>A; p.D1038N; 5:1255332-1255332 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1217G>A; p.G406E; 5:1293669-1293669 |
skin | malignant_melanoma | Substitution - Missense |
c.851C>T; p.S284F; 5:1294035-1294035 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1739T>C; p.V580A; 5:1282459-1282459 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2640G>A; p.A880A; 5:1266478-1266478 |
skin | malignant_melanoma | Substitution - coding silent |
c.2067C>T; p.A689A; 5:1279354-1279354 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.670C>T; p.R224C; 5:1294216-1294216 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.378G>A; p.T126T; 5:1294508-1294508 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1921G>T; p.G641*; 5:1280187-1280187 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.3251G>A; p.R1084Q; 5:1254412-1254412 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2208G>A; p.Q736Q; 5:1278719-1278719 |
skin | malignant_melanoma | Substitution - coding silent |
c.2160C>A; p.I720I; 5:1278767-1278767 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2472C>T; p.S824S; 5:1268630-1268630 |
skin | malignant_melanoma | Substitution - coding silent |
c.1485C>T; p.I495I; 5:1293401-1293401 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1719C>A; p.L573L; 5:1282479-1282479 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1214A>G; p.Y405C; 5:1293672-1293672 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1932G>A; p.T644T; 5:1280176-1280176 |
thyroid | carcinoma | Substitution - coding silent |
c.2337C>T; p.H779H; 5:1272230-1272230 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2091G>T; p.V697V; 5:1279330-1279330 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1-91C>T; p.?; 5:1295022-1295022 |
skin | malignant_melanoma | Unknown |
c.1-91C>T; p.?; 5:1295022-1295022 |
skin | malignant_melanoma | Unknown |
c.1-91C>T; p.?; 5:1295022-1295022 |
skin | malignant_melanoma | Unknown |
c.2794G>A; p.G932S; 5:1264453-1264453 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1663G>C; p.E555Q; 5:1282535-1282535 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3200C>T; p.S1067F; 5:1254463-1254463 |
skin | malignant_melanoma | Substitution - Missense |
c.2405G>A; p.S802N; 5:1271182-1271182 |
skin | malignant_melanoma | Substitution - Missense |
c.2149T>A; p.Y717N; 5:1278778-1278778 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3119C>T; p.A1040V; 5:1255325-1255325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1297G>A; p.G433S; 5:1293589-1293589 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2355G>A; p.P785P; 5:1272212-1272212 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1-156C>T; p.?; 5:1295087-1295087 |
skin; trunk | malignant_melanoma | Unknown |
c.1-156C>T; p.?; 5:1295087-1295087 |
skin; upper_extremity | malignant_melanoma | Unknown |
c.1-46C>T; p.?; 5:1294977-1294977 |
skin; trunk | malignant_melanoma | Unknown |
c.1-156C>T; p.?; 5:1295087-1295087 |
skin; trunk | malignant_melanoma | Unknown |
c.1069G>A; p.A357T; 5:1293817-1293817 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1-125C>G; p.?; 5:1294973-1294973 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2914C>T; p.R972C; 5:1260530-1260530 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2234C>T; p.A745V; 5:1278693-1278693 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.810C>T; p.F270F; 5:1294076-1294076 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1893G>T; p.R631R; 5:1280215-1280215 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1264G>A; p.A422T; 5:1293622-1293622 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.630C>T; p.A210A; 5:1294256-1294256 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2508C>A; p.I836I; 5:1268594-1268594 |
skin | malignant_melanoma | Substitution - coding silent |
c.487G>A; p.A163T; 5:1294399-1294399 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1824G>T; p.Q608H; 5:1280284-1280284 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2702G>T; p.R901L; 5:1264545-1264545 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1-176C>T; p.?; 5:1295107-1295107 |
skin; mucosal | malignant_melanoma | Unknown |
c.3291G>T; p.R1097S; 5:1254372-1254372 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2772C>T; p.A924A; 5:1264475-1264475 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2633C>T; p.T878I; 5:1266485-1266485 |
skin | malignant_melanoma | Substitution - Missense |
c.2162C>G; p.P721R; 5:1278765-1278765 |
skin | malignant_melanoma | Substitution - Missense |
c.1-111C>T; p.?; 5:1295042-1295042 |
skin; face | carcinoma; basal_cell_carcinoma | Unknown |
c.1127C>T; p.P376L; 5:1293759-1293759 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1708A>C; p.K570Q; 5:1282490-1282490 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2566G>T; p.G856W; 5:1268536-1268536 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2271G>A; p.K757K; 5:1278656-1278656 |
skin | malignant_melanoma | Substitution - coding silent |