| Gene ID | 5469 |
| Symbol | MED1 |
| Synonymous | CRSP1|CRSP200|DRIP205|DRIP230|PBP|PPARBP|PPARGBP|RB18A|TRAP220|TRIP2 |
| Full name | mediator complex subunit 1 |
| Gene description | ARC205|PPAR binding protein|PPAR-binding protein|PPARG binding protein|TR-interacting protein 2|TRIP-2|activator-recruited cofactor 205 kDa component|mediator of RNA polymerase II transcription subunit 1|p53 regulatory protein RB18A|peroxisome proliferato |
| Cytoband | 17q12 |
| Gene type | protein-coding |
| Synonymous | MIM:604311; HGNC:HGNC:9234; Ensembl:ENSG00000125686; HPRD:05055; Vega:OTTHUMG00000133216 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.942T>A; p.S314S; 17:39423731-39423731 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.65G>A; p.R22Q; 17:39447865-39447865 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.805C>T; p.P269S; 17:39424673-39424673 |
skin | malignant_melanoma | Substitution - Missense |
c.4157G>C; p.S1386T; 17:39408064-39408064 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2939A>G; p.N980S; 17:39409282-39409282 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2595C>T; p.F865F; 17:39409626-39409626 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.48G>A; p.M16I; 17:39447882-39447882 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2595C>T; p.F865F; 17:39409626-39409626 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3910A>G; p.T1304A; 17:39408311-39408311 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3918C>T; p.V1306V; 17:39408303-39408303 |
breast | carcinoma | Substitution - coding silent |
c.4004C>G; p.S1335C; 17:39408217-39408217 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.205C>A; p.L69I; 17:39443556-39443556 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1118G>A; p.C373Y; 17:39419896-39419896 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2141C>T; p.S714L; 17:39410080-39410080 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.632T>G; p.L211R; 17:39431132-39431132 |
prostate | adenoma | Substitution - Missense |
c.4683C>A; p.S1561R; 17:39407538-39407538 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.2447C>A; p.S816Y; 17:39409774-39409774 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4683C>A; p.S1561R; 17:39407538-39407538 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3653C>G; p.S1218C; 17:39408568-39408568 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4342C>G; p.P1448A; 17:39407879-39407879 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3203C>T; p.P1068L; 17:39409018-39409018 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1354G>A; p.V452I; 17:39415283-39415283 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3019G>C; p.D1007H; 17:39409202-39409202 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1077C>T; p.H359H; 17:39423345-39423345 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1233C>T; p.I411I; 17:39419781-39419781 |
skin | malignant_melanoma | Substitution - coding silent |
c.3019G>C; p.D1007H; 17:39409202-39409202 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2612A>G; p.N871S; 17:39409609-39409609 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1355T>C; p.V452A; 17:39415282-39415282 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2164C>A; p.P722T; 17:39410057-39410057 |
skin | malignant_melanoma | Substitution - Missense |
c.2613C>T; p.N871N; 17:39409608-39409608 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3806C>T; p.S1269F; 17:39408415-39408415 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2057A>C; p.K686T; 17:39410164-39410164 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1160G>C; p.S387T; 17:39419854-39419854 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.435A>C; p.K145N; 17:39434314-39434314 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.730G>A; p.E244K; 17:39427710-39427710 |
skin | malignant_melanoma | Substitution - Missense |
c.3962delG; p.G1321fs*11; 17:39408259-39408259 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.4579A>G; p.S1527G; 17:39407642-39407642 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2429C>A; p.S810Y; 17:39409792-39409792 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2374A>C; p.K792Q; 17:39409847-39409847 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4224G>T; p.V1408V; 17:39407997-39407997 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.440T>C; p.F147S; 17:39434309-39434309 |
breast | carcinoma | Substitution - Missense |
c.2012C>A; p.S671Y; 17:39410209-39410209 |
breast | carcinoma | Substitution - Missense |
c.3800C>T; p.T1267M; 17:39408421-39408421 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2964A>C; p.L988F; 17:39409257-39409257 |
skin | malignant_melanoma | Substitution - Missense |
c.4503A>C; p.K1501N; 17:39407718-39407718 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.861_864delCTTC; p.F288fs*17; 17:39423809-39423812 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1827A>G; p.Q609Q; 17:39410394-39410394 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2813G>A; p.G938D; 17:39409408-39409408 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.965A>G; p.Q322R; 17:39423708-39423708 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2937T>G; p.S979R; 17:39409284-39409284 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2246C>T; p.P749L; 17:39409975-39409975 |
liver | carcinoma | Substitution - Missense |
c.2246C>T; p.P749L; 17:39409975-39409975 |
liver | carcinoma | Substitution - Missense |
c.2508T>C; p.T836T; 17:39409713-39409713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1841G>A; p.G614E; 17:39410380-39410380 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1704G>A; p.P568P; 17:39410517-39410517 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4419G>C; p.E1473D; 17:39407802-39407802 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4148A>T; p.N1383I; 17:39408073-39408073 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1687C>T; p.P563S; 17:39410534-39410534 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4120T>C; p.S1374P; 17:39408101-39408101 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2098C>A; p.P700T; 17:39410123-39410123 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3283A>G; p.K1095E; 17:39408938-39408938 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1687C>A; p.P563T; 17:39410534-39410534 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.4574C>T; p.S1525F; 17:39407647-39407647 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1377T>C; p.N459N; 17:39415260-39415260 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1625C>A; p.P542Q; 17:39410596-39410596 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3641G>A; p.G1214E; 17:39408580-39408580 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4136C>T; p.S1379L; 17:39408085-39408085 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4473A>G; p.E1491E; 17:39407748-39407748 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2123T>G; p.F708C; 17:39410098-39410098 |
skin | malignant_melanoma | Substitution - Missense |
c.2521C>G; p.L841V; 17:39409700-39409700 |
ovary | other; neoplasm | Substitution - Missense |
c.2230delC; p.Q744fs*36; 17:39409991-39409991 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.572A>G; p.Y191C; 17:39431945-39431945 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1437C>A; p.L479L; 17:39415088-39415088 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.856C>T; p.P286S; 17:39423817-39423817 |
skin | malignant_melanoma | Substitution - Missense |
c.3680C>T; p.S1227L; 17:39408541-39408541 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2061C>A; p.T687T; 17:39410160-39410160 |
thyroid | other; neoplasm | Substitution - coding silent |
c.4728G>T; p.V1576V; 17:39407493-39407493 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.16delG; p.E6fs*8; 17:39451047-39451047 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.4148delA; p.N1383fs*26; 17:39408073-39408073 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2486A>G; p.N829S; 17:39409735-39409735 |
skin | malignant_melanoma | Substitution - Missense |
c.2375A>G; p.K792R; 17:39409846-39409846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4148delA; p.N1383fs*26; 17:39408073-39408073 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1304C>T; p.P435L; 17:39415333-39415333 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4205C>G; p.P1402R; 17:39408016-39408016 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4222G>A; p.V1408M; 17:39407999-39407999 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3034C>T; p.R1012W; 17:39409187-39409187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4493A>C; p.K1498T; 17:39407728-39407728 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.606G>T; p.K202N; 17:39431158-39431158 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2376A>G; p.K792K; 17:39409845-39409845 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1423G>A; p.V475M; 17:39415102-39415102 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3154C>T; p.P1052S; 17:39409067-39409067 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.388G>T; p.E130*; 17:39440397-39440397 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3148C>T; p.Q1050*; 17:39409073-39409073 |
oesophagus | carcinoma | Substitution - Nonsense |
c.740-3C>T; p.?; 17:39424741-39424741 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.606G>C; p.K202N; 17:39431158-39431158 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3671C>T; p.P1224L; 17:39408550-39408550 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3881C>G; p.S1294C; 17:39408340-39408340 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.4533T>C; p.D1511D; 17:39407688-39407688 |
skin | malignant_melanoma | Substitution - coding silent |
c.4536G>T; p.R1512S; 17:39407685-39407685 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2978G>A; p.G993E; 17:39409243-39409243 |
skin; upper_back | malignant_melanoma | Substitution - Missense |
c.3977A>G; p.D1326G; 17:39408244-39408244 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4546C>T; p.R1516W; 17:39407675-39407675 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4576C>G; p.H1526D; 17:39407645-39407645 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3384T>C; p.S1128S; 17:39408837-39408837 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2728A>T; p.M910L; 17:39409493-39409493 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3177C>G; p.P1059P; 17:39409044-39409044 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1568C>A; p.P523Q; 17:39410653-39410653 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2214C>T; p.I738I; 17:39410007-39410007 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3930G>A; p.L1310L; 17:39408291-39408291 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3154_3155CC>TT; p.P1052F; 17:39409066-39409067 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3683G>A; p.G1228D; 17:39408538-39408538 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3342G>A; p.M1114I; 17:39408879-39408879 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4495A>T; p.K1499*; 17:39407726-39407726 |
thyroid | carcinoma | Substitution - Nonsense |
c.362G>A; p.C121Y; 17:39440423-39440423 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3795C>A; p.S1265S; 17:39408426-39408426 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2863G>A; p.G955S; 17:39409358-39409358 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1754G>A; p.R585Q; 17:39410467-39410467 |
pancreas | carcinoma | Substitution - Missense |
c.3065C>A; p.P1022Q; 17:39409156-39409156 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2863G>A; p.G955S; 17:39409358-39409358 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.626G>T; p.G209V; 17:39431138-39431138 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2429C>G; p.S810C; 17:39409792-39409792 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3536C>A; p.S1179*; 17:39408685-39408685 |
breast | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.1763C>T; p.S588L; 17:39410458-39410458 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.4341T>C; p.S1447S; 17:39407880-39407880 |
liver | carcinoma | Substitution - coding silent |
c.745C>T; p.R249*; 17:39424733-39424733 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1057G>C; p.D353H; 17:39423365-39423365 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.881C>T; p.A294V; 17:39423792-39423792 |
skin | malignant_melanoma | Substitution - Missense |
c.3070C>T; p.H1024Y; 17:39409151-39409151 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.955C>T; p.Q319*; 17:39423718-39423718 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.30A>T; p.S10S; 17:39447900-39447900 |
thyroid | other; neoplasm | Substitution - coding silent |
c.3146C>G; p.S1049C; 17:39409075-39409075 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2920G>T; p.E974*; 17:39409301-39409301 |
NS | NS | Substitution - Nonsense |
c.1321G>A; p.E441K; 17:39415316-39415316 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4629C>T; p.S1543S; 17:39407592-39407592 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1963C>G; p.Q655E; 17:39410258-39410258 |
liver | carcinoma | Substitution - Missense |
c.2290C>A; p.Q764K; 17:39409931-39409931 |
liver | carcinoma | Substitution - Missense |
c.1592C>T; p.T531I; 17:39410629-39410629 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2290C>A; p.Q764K; 17:39409931-39409931 |
liver | carcinoma | Substitution - Missense |
c.3991G>T; p.V1331L; 17:39408230-39408230 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1592C>T; p.T531I; 17:39410629-39410629 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1963C>G; p.Q655E; 17:39410258-39410258 |
liver | carcinoma | Substitution - Missense |
c.1721_1722CC>TT; p.T574I; 17:39410499-39410500 |
skin | malignant_melanoma | Substitution - Missense |
c.487C>A; p.L163I; 17:39434262-39434262 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4576C>T; p.H1526Y; 17:39407645-39407645 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4738G>T; p.G1580W; 17:39407483-39407483 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1561G>A; p.D521N; 17:39410660-39410660 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.1782C>T; p.D594D; 17:39410439-39410439 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3968A>G; p.D1323G; 17:39408253-39408253 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4235A>G; p.K1412R; 17:39407986-39407986 |
liver | carcinoma | Substitution - Missense |
c.4235A>G; p.K1412R; 17:39407986-39407986 |
liver | carcinoma | Substitution - Missense |
c.3583C>T; p.H1195Y; 17:39408638-39408638 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2539G>A; p.G847R; 17:39409682-39409682 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3716C>T; p.S1239L; 17:39408505-39408505 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1839C>T; p.N613N; 17:39410382-39410382 |
ovary | other; neoplasm | Substitution - coding silent |
c.685T>G; p.S229A; 17:39427755-39427755 |
liver | carcinoma | Substitution - Missense |
c.688G>A; p.D230N; 17:39427752-39427752 |
breast | carcinoma | Substitution - Missense |
c.3061_3064delTCTC; p.S1021fs*51; 17:39409157-39409160 |
large_intestine; colon | carcinoma | Deletion - Frameshift |
c.2030G>A; p.R677H; 17:39410191-39410191 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3061_3064delTCTC; p.S1021fs*51; 17:39409157-39409160 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2030G>A; p.R677H; 17:39410191-39410191 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.407C>T; p.P136L; 17:39439186-39439186 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1709_1710insG; p.P571fs*7; 17:39410511-39410512 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.407C>T; p.P136L; 17:39439186-39439186 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1625delC; p.P542fs*9; 17:39410596-39410596 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3370A>C; p.S1124R; 17:39408851-39408851 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2018C>T; p.S673F; 17:39410203-39410203 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1575G>A; p.L525L; 17:39410646-39410646 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2018C>T; p.S673F; 17:39410203-39410203 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.828G>T; p.G276G; 17:39424650-39424650 |
liver | carcinoma | Substitution - coding silent |
c.2018C>T; p.S673F; 17:39410203-39410203 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.413T>C; p.L138P; 17:39439180-39439180 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3461G>A; p.G1154D; 17:39408760-39408760 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1384C>A; p.L462M; 17:39415253-39415253 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2365G>T; p.E789*; 17:39409856-39409856 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2799T>G; p.I933M; 17:39409422-39409422 |
stomach | adenocarcinoma | Substitution - Missense |
c.3229C>T; p.P1077S; 17:39408992-39408992 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1019A>G; p.Y340C; 17:39423403-39423403 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.909C>T; p.F303F; 17:39423764-39423764 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.437delA; p.N146fs*24; 17:39434312-39434312 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3469C>G; p.P1157A; 17:39408752-39408752 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4362A>T; p.P1454P; 17:39407859-39407859 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4527C>A; p.D1509E; 17:39407694-39407694 |
kidney | other; neoplasm | Substitution - Missense |
c.1873C>G; p.P625A; 17:39410348-39410348 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4081G>C; p.D1361H; 17:39408140-39408140 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1784T>C; p.F595S; 17:39410437-39410437 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2521C>T; p.L841F; 17:39409700-39409700 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3869C>A; p.S1290Y; 17:39408352-39408352 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2502A>T; p.P834P; 17:39409719-39409719 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.4121C>T; p.S1374F; 17:39408100-39408100 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3750A>T; p.G1250G; 17:39408471-39408471 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1280G>T; p.R427I; 17:39419734-39419734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2666G>C; p.S889T; 17:39409555-39409555 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1901C>T; p.S634L; 17:39410320-39410320 |
skin | malignant_melanoma | Substitution - Missense |
c.4179C>T; p.I1393I; 17:39408042-39408042 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1394T>C; p.V465A; 17:39415131-39415131 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4483G>T; p.E1495*; 17:39407738-39407738 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.678C>G; p.V226V; 17:39427762-39427762 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2798_2808del11; p.I933fs*17; 17:39409413-39409423 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1415C>G; p.S472*; 17:39415110-39415110 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3265G>A; p.V1089M; 17:39408956-39408956 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2798_2808del11; p.I933fs*17; 17:39409413-39409423 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.2965G>T; p.D989Y; 17:39409256-39409256 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2865T>C; p.G955G; 17:39409356-39409356 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2865T>C; p.G955G; 17:39409356-39409356 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1156C>T; p.R386*; 17:39419858-39419858 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2959G>A; p.G987R; 17:39409262-39409262 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3744G>A; p.G1248G; 17:39408477-39408477 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2444A>G; p.H815R; 17:39409777-39409777 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.514A>T; p.K172*; 17:39432003-39432003 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2993C>T; p.T998I; 17:39409228-39409228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3815C>T; p.S1272F; 17:39408406-39408406 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2951C>T; p.S984L; 17:39409270-39409270 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4308C>G; p.I1436M; 17:39407913-39407913 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4270C>T; p.Q1424*; 17:39407951-39407951 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.73G>A; p.A25T; 17:39447857-39447857 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3192T>C; p.T1064T; 17:39409029-39409029 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.536C>T; p.S179F; 17:39431981-39431981 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1410G>T; p.Q470H; 17:39415115-39415115 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3832T>G; p.S1278A; 17:39408389-39408389 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1709delG; p.G570fs*9; 17:39410512-39410512 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1114C>T; p.H372Y; 17:39419900-39419900 |
liver | carcinoma | Substitution - Missense |
c.652C>T; p.H218Y; 17:39427788-39427788 |
skin | malignant_melanoma | Substitution - Missense |
c.4500C>A; p.H1500Q; 17:39407721-39407721 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.3221T>C; p.V1074A; 17:39409000-39409000 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2169C>T; p.I723I; 17:39410052-39410052 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2938A>G; p.N980D; 17:39409283-39409283 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2026C>T; p.P676S; 17:39410195-39410195 |
NS | NS | Substitution - Missense |