| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 4325 |
Name | MMP16 |
Synonymous | matrix metallopeptidase 16 (membrane-inserted);MMP16;matrix metallopeptidase 16 (membrane-inserted) |
Definition | MMP-16|MT-MMP 3|MT3MMP|MTMMP3|Putative transmembrane protein C8orf57|matrix metalloproteinase-16|membrane-type matrix metalloproteinase 3|membrane-type-3 matrix metalloproteinase |
Position | 8q21.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1139A>T; p.Q380L; 8:88074688-88074688 |
liver | carcinoma | Substitution - Missense |
c.1823G>A; p.*608*; 8:88041462-88041462 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1139A>T; p.Q380L; 8:88074688-88074688 |
liver | carcinoma | Substitution - Missense |
c.1609G>A; p.D537N; 8:88041676-88041676 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.173C>T; p.P58L; 8:88197266-88197266 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.165G>A; p.P55P; 8:88197274-88197274 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.102C>T; p.V34V; 8:88327105-88327105 |
skin | malignant_melanoma | Substitution - coding silent |
c.165G>A; p.P55P; 8:88197274-88197274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.559A>C; p.I187L; 8:88167819-88167819 |
skin | malignant_melanoma | Substitution - Missense |
c.757G>T; p.G253*; 8:88118814-88118814 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.186G>A; p.V62V; 8:88197253-88197253 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.425A>G; p.K142R; 8:88167953-88167953 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.346C>A; p.R116S; 8:88186534-88186534 |
prostate | adenoma | Substitution - Missense |
c.1245G>A; p.K415K; 8:88056256-88056256 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1215C>A; p.F405L; 8:88074612-88074612 |
breast | carcinoma | Substitution - Missense |
c.1222G>C; p.G408R; 8:88074605-88074605 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.814G>A; p.E272K; 8:88118757-88118757 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.299G>A; p.R100Q; 8:88186581-88186581 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1089G>C; p.Q363H; 8:88074738-88074738 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1704C>A; p.V568V; 8:88041581-88041581 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1812A>G; p.Q604Q; 8:88041473-88041473 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.786delC; p.I263fs*88; 8:88118785-88118785 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1489G>A; p.G497S; 8:88046669-88046669 |
skin | malignant_melanoma | Substitution - Missense |
c.1303C>T; p.P435S; 8:88056198-88056198 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.458G>T; p.R153L; 8:88167920-88167920 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1801C>T; p.R601C; 8:88041484-88041484 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1303C>T; p.P435S; 8:88056198-88056198 |
skin | malignant_melanoma | Substitution - Missense |
c.1445G>C; p.G482A; 8:88046713-88046713 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.36G>T; p.L12F; 8:88327171-88327171 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.36G>T; p.L12F; 8:88327171-88327171 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.26G>A; p.G9E; 8:88327181-88327181 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1599T>G; p.D533E; 8:88041686-88041686 |
skin | malignant_melanoma | Substitution - Missense |
c.1800A>G; p.K600K; 8:88041485-88041485 |
parathyroid | adenoma | Substitution - coding silent |
c.1143T>C; p.I381I; 8:88074684-88074684 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1445G>A; p.G482E; 8:88046713-88046713 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.976_977CC>AG; p.P326S; 8:88116613-88116614 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1699A>G; p.I567V; 8:88041586-88041586 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.710G>A; p.G237E; 8:88118861-88118861 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1199A>G; p.D400G; 8:88074628-88074628 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.422C>T; p.P141L; 8:88167956-88167956 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.399T>G; p.T133T; 8:88186481-88186481 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1582G>A; p.D528N; 8:88041703-88041703 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.808T>C; p.Y270H; 8:88118763-88118763 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1126G>C; p.G376R; 8:88074701-88074701 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1189G>A; p.E397K; 8:88074638-88074638 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.192C>T; p.R64R; 8:88197247-88197247 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.911C>G; p.P304R; 8:88116679-88116679 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1189G>A; p.E397K; 8:88074638-88074638 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1459C>A; p.P487T; 8:88046699-88046699 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1810C>T; p.Q604*; 8:88041475-88041475 |
oesophagus | carcinoma | Substitution - Nonsense |
c.1061G>A; p.R354H; 8:88116529-88116529 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1061G>A; p.R354H; 8:88116529-88116529 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.356G>A; p.R119Q; 8:88186524-88186524 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.760T>C; p.L254L; 8:88118811-88118811 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.437C>A; p.P146H; 8:88167941-88167941 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.54G>T; p.S18S; 8:88327153-88327153 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.774T>A; p.N258K; 8:88118797-88118797 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.398C>G; p.T133S; 8:88186482-88186482 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.1393G>A; p.E465K; 8:88046765-88046765 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1112A>C; p.N371T; 8:88074715-88074715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1345G>A; p.G449R; 8:88056156-88056156 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.356G>T; p.R119L; 8:88186524-88186524 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.356G>T; p.R119L; 8:88186524-88186524 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.675T>A; p.D225E; 8:88167703-88167703 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1008C>T; p.P336P; 8:88116582-88116582 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.985C>T; p.P329S; 8:88116605-88116605 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.282-1G>A; p.?; 8:88186599-88186599 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1008C>T; p.P336P; 8:88116582-88116582 |
skin | malignant_melanoma | Substitution - coding silent |
c.347G>T; p.R116L; 8:88186533-88186533 |
liver | carcinoma | Substitution - Missense |
c.993_994CA>TT; p.G331>?; 8:88116596-88116597 |
lung | carcinoma; adenocarcinoma | Complex |
c.1725A>T; p.L575F; 8:88041560-88041560 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1530C>T; p.F510F; 8:88041755-88041755 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.248A>C; p.N83T; 8:88197191-88197191 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.248A>C; p.N83T; 8:88197191-88197191 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.1202G>A; p.G401E; 8:88074625-88074625 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.780C>T; p.P260P; 8:88118791-88118791 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.432A>T; p.G144G; 8:88167946-88167946 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1550T>C; p.V517A; 8:88041735-88041735 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.568T>A; p.S190T; 8:88167810-88167810 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.355C>T; p.R119*; 8:88186525-88186525 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.355C>T; p.R119*; 8:88186525-88186525 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.476G>C; p.W159S; 8:88167902-88167902 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.986C>T; p.P329L; 8:88116604-88116604 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1278C>G; p.D426E; 8:88056223-88056223 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.861G>A; p.Q287Q; 8:88118710-88118710 |
breast | carcinoma | Substitution - coding silent |
c.901A>T; p.R301*; 8:88116689-88116689 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1269C>G; p.Y423*; 8:88056232-88056232 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1044C>T; p.N348N; 8:88116546-88116546 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.960T>G; p.N320K; 8:88116630-88116630 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1262C>T; p.P421L; 8:88056239-88056239 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.349C>T; p.R117*; 8:88186531-88186531 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1152C>A; p.F384L; 8:88074675-88074675 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.151G>T; p.G51C; 8:88197288-88197288 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.349C>T; p.R117*; 8:88186531-88186531 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.67T>G; p.L23V; 8:88327140-88327140 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.78G>A; p.L26L; 8:88327129-88327129 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.251T>A; p.M84K; 8:88197188-88197188 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.350G>A; p.R117Q; 8:88186530-88186530 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.350G>A; p.R117Q; 8:88186530-88186530 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.852G>T; p.Q284H; 8:88118719-88118719 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.340C>A; p.H114N; 8:88186540-88186540 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.350G>A; p.R117Q; 8:88186530-88186530 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1534A>C; p.N512H; 8:88041751-88041751 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.722T>A; p.F241Y; 8:88118849-88118849 |
liver | carcinoma | Substitution - Missense |
c.1137G>A; p.M379I; 8:88074690-88074690 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1137G>A; p.M379I; 8:88074690-88074690 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.257G>A; p.G86E; 8:88197182-88197182 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.722T>A; p.F241Y; 8:88118849-88118849 |
liver | carcinoma | Substitution - Missense |
c.1216T>C; p.F406L; 8:88074611-88074611 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1365G>C; p.K455N; 8:88056136-88056136 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.593C>A; p.P198H; 8:88167785-88167785 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.671C>A; p.S224*; 8:88167707-88167707 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.493C>T; p.L165L; 8:88167885-88167885 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.346C>T; p.R116C; 8:88186534-88186534 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.730G>T; p.A244S; 8:88118841-88118841 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.422C>G; p.P141R; 8:88167956-88167956 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.729A>T; p.V243V; 8:88118842-88118842 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1567A>C; p.R523R; 8:88041718-88041718 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1636C>A; p.P546T; 8:88041649-88041649 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.942G>A; p.P314P; 8:88116648-88116648 |
prostate | carcinoma | Substitution - coding silent |
c.942G>A; p.P314P; 8:88116648-88116648 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1636C>A; p.P546T; 8:88041649-88041649 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1446G>A; p.G482G; 8:88046712-88046712 |
skin | malignant_melanoma | Substitution - coding silent |
c.1446G>A; p.G482G; 8:88046712-88046712 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.612A>G; p.G204G; 8:88167766-88167766 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1446G>A; p.G482G; 8:88046712-88046712 |
skin | malignant_melanoma | Substitution - coding silent |
c.1008C>G; p.P336P; 8:88116582-88116582 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.366G>C; p.L122F; 8:88186514-88186514 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.201G>T; p.E67D; 8:88197238-88197238 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1489G>T; p.G497C; 8:88046669-88046669 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.669C>A; p.D223E; 8:88167709-88167709 |
pancreas | carcinoma | Substitution - Missense |
c.366G>C; p.L122F; 8:88186514-88186514 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1460C>A; p.P487H; 8:88046698-88046698 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.940C>T; p.P314S; 8:88116650-88116650 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.104G>T; p.C35F; 8:88327103-88327103 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1676C>A; p.A559D; 8:88041609-88041609 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1591G>T; p.G531C; 8:88041694-88041694 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1045A>C; p.T349P; 8:88116545-88116545 |
ovary | other; neoplasm | Substitution - Missense |
c.1341C>T; p.D447D; 8:88056160-88056160 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1341C>T; p.D447D; 8:88056160-88056160 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.411G>T; p.K137N; 8:88167967-88167967 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.901A>C; p.R301R; 8:88116689-88116689 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.734T>G; p.V245G; 8:88118837-88118837 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.988A>G; p.T330A; 8:88116602-88116602 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.980G>A; p.R327Q; 8:88116610-88116610 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1106G>C; p.R369T; 8:88074721-88074721 |
breast | carcinoma | Substitution - Missense |
c.980G>A; p.R327Q; 8:88116610-88116610 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1106G>C; p.R369T; 8:88074721-88074721 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.216C>A; p.A72A; 8:88197223-88197223 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1761C>G; p.F587L; 8:88041524-88041524 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1155G>T; p.W385C; 8:88074672-88074672 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1266T>C; p.G422G; 8:88056235-88056235 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.954G>A; p.R318R; 8:88116636-88116636 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.954G>A; p.R318R; 8:88116636-88116636 |
skin | malignant_melanoma | Substitution - coding silent |
c.954G>A; p.R318R; 8:88116636-88116636 |
skin | malignant_melanoma | Substitution - coding silent |
c.1294A>G; p.S432G; 8:88056207-88056207 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1132C>T; p.P378S; 8:88074695-88074695 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1753T>A; p.F585I; 8:88041532-88041532 |
thyroid | carcinoma | Substitution - Missense |
c.1342G>A; p.V448I; 8:88056159-88056159 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1219A>C; p.K407Q; 8:88074608-88074608 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.737A>T; p.H246L; 8:88118834-88118834 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1211T>A; p.V404E; 8:88074616-88074616 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1639G>A; p.D547N; 8:88041646-88041646 |
breast | carcinoma | Substitution - Missense |
c.157C>T; p.L53F; 8:88197282-88197282 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.227T>C; p.M76T; 8:88197212-88197212 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.224C>T; p.A75V; 8:88197215-88197215 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.710G>T; p.G237V; 8:88118861-88118861 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.633C>T; p.F211F; 8:88167745-88167745 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1156C>T; p.R386W; 8:88074671-88074671 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.505G>A; p.E169K; 8:88167873-88167873 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.912G>A; p.P304P; 8:88116678-88116678 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.760T>G; p.L254V; 8:88118811-88118811 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1305C>A; p.P435P; 8:88056196-88056196 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.582G>A; p.G194G; 8:88167796-88167796 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1009G>A; p.G337R; 8:88116581-88116581 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1084-3C>A; p.?; 8:88074746-88074746 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.1803C>A; p.R601R; 8:88041482-88041482 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.437delC; p.P146fs*17; 8:88167943-88167943 |
urinary_tract; bladder | carcinoma | Deletion - Frameshift |
c.1511G>A; p.G504E; 8:88041774-88041774 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1511G>A; p.G504E; 8:88041774-88041774 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.776A>G; p.D259G; 8:88118795-88118795 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1197C>T; p.S399S; 8:88074630-88074630 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.736C>A; p.H246N; 8:88118835-88118835 |
liver | carcinoma | Substitution - Missense |
c.1559G>A; p.G520E; 8:88041726-88041726 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1312G>T; p.G438C; 8:88056189-88056189 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1701T>C; p.I567I; 8:88041584-88041584 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.209A>G; p.Q70R; 8:88197230-88197230 |
large_intestine; rectum | NS | Substitution - Missense |
c.721T>G; p.F241V; 8:88118850-88118850 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1459C>T; p.P487S; 8:88046699-88046699 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1176C>T; p.I392I; 8:88074651-88074651 |
liver | carcinoma | Substitution - coding silent |
c.1459C>T; p.P487S; 8:88046699-88046699 |
skin; nipple | malignant_melanoma | Substitution - Missense |
c.349C>A; p.R117R; 8:88186531-88186531 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.804C>A; p.Y268*; 8:88118767-88118767 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.311C>T; p.P104L; 8:88186569-88186569 |
liver | carcinoma | Substitution - Missense |
c.1747A>G; p.T583A; 8:88041538-88041538 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1176C>T; p.I392I; 8:88074651-88074651 |
liver | carcinoma | Substitution - coding silent |
c.458G>A; p.R153H; 8:88167920-88167920 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.107G>A; p.G36E; 8:88327100-88327100 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844G>A; p.D282N; 8:88118727-88118727 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844G>A; p.D282N; 8:88118727-88118727 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1083+1G>T; p.?; 8:88116506-88116506 |
prostate | carcinoma | Unknown |
c.634C>A; p.P212T; 8:88167744-88167744 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.855C>T; p.G285G; 8:88118716-88118716 |
liver | carcinoma | Substitution - coding silent |
c.182C>G; p.S61*; 8:88197257-88197257 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.495G>T; p.L165L; 8:88167883-88167883 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1070T>C; p.M357T; 8:88116520-88116520 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.152G>A; p.G51D; 8:88197287-88197287 |
skin | malignant_melanoma | Substitution - Missense |
c.1549G>T; p.V517L; 8:88041736-88041736 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.823A>C; p.N275H; 8:88118748-88118748 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.823A>C; p.N275H; 8:88118748-88118748 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.946G>T; p.D316Y; 8:88116644-88116644 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.291G>T; p.K97N; 8:88186589-88186589 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1380G>T; p.W460C; 8:88046778-88046778 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.266A>G; p.D89G; 8:88197173-88197173 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1058T>G; p.L353R; 8:88116532-88116532 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.629A>C; p.Y210S; 8:88167749-88167749 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1006C>G; p.P336A; 8:88116584-88116584 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1162T>G; p.L388V; 8:88074665-88074665 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.903A>G; p.R301R; 8:88116687-88116687 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.903A>G; p.R301R; 8:88116687-88116687 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.602G>A; p.G201E; 8:88167776-88167776 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.23C>T; p.T8I; 8:88327184-88327184 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1450C>T; p.P484S; 8:88046708-88046708 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.191G>A; p.R64H; 8:88197248-88197248 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.901A>G; p.R301G; 8:88116689-88116689 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.901A>G; p.R301G; 8:88116689-88116689 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.577C>A; p.H193N; 8:88167801-88167801 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1133C>G; p.P378R; 8:88074694-88074694 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.592C>A; p.P198T; 8:88167786-88167786 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1338G>T; p.E446D; 8:88056163-88056163 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1338G>T; p.E446D; 8:88056163-88056163 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.631T>C; p.F211L; 8:88167747-88167747 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.592C>A; p.P198T; 8:88167786-88167786 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.303C>T; p.C101C; 8:88186577-88186577 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.303C>T; p.C101C; 8:88186577-88186577 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.872-3A>T; p.?; 8:88116721-88116721 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1496C>T; p.T499M; 8:88041789-88041789 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.340C>T; p.H114Y; 8:88186540-88186540 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.709+5G>A; p.?; 8:88167664-88167664 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.1793A>G; p.Y598C; 8:88041492-88041492 |
liver | carcinoma | Substitution - Missense |
c.1793A>G; p.Y598C; 8:88041492-88041492 |
liver | carcinoma | Substitution - Missense |
c.347G>A; p.R116H; 8:88186533-88186533 |
liver | carcinoma | Substitution - Missense |
c.347G>A; p.R116H; 8:88186533-88186533 |
liver | carcinoma | Substitution - Missense |
c.1637C>A; p.P546Q; 8:88041648-88041648 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.334A>G; p.K112E; 8:88186546-88186546 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1201G>A; p.G401R; 8:88074626-88074626 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1201G>A; p.G401R; 8:88074626-88074626 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1726T>C; p.C576R; 8:88041559-88041559 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1201G>A; p.G401R; 8:88074626-88074626 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1200C>T; p.D400D; 8:88074627-88074627 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1700T>C; p.I567T; 8:88041585-88041585 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.947A>G; p.D316G; 8:88116643-88116643 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1201G>A; p.G401R; 8:88074626-88074626 |
breast | carcinoma | Substitution - Missense |
c.382C>A; p.Q128K; 8:88186498-88186498 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1008C>A; p.P336P; 8:88116582-88116582 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1632C>T; p.S544S; 8:88041653-88041653 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1511G>C; p.G504A; 8:88041774-88041774 |
skin | malignant_melanoma | Substitution - Missense |
c.982C>T; p.P328S; 8:88116608-88116608 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.860A>C; p.Q287P; 8:88118711-88118711 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1097G>C; p.W366S; 8:88074730-88074730 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1587T>G; p.F529L; 8:88041698-88041698 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.923delC; p.P308fs*43; 8:88116667-88116667 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1060C>T; p.R354C; 8:88116530-88116530 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1215C>T; p.F405F; 8:88074612-88074612 |
skin | malignant_melanoma | Substitution - coding silent |
c.112G>T; p.E38*; 8:88327095-88327095 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1478A>C; p.H493P; 8:88046680-88046680 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.12C>T; p.L4L; 8:88327195-88327195 |
breast | carcinoma | Substitution - coding silent |
c.1215C>T; p.F405F; 8:88074612-88074612 |
skin | malignant_melanoma | Substitution - coding silent |
c.979C>T; p.R327W; 8:88116611-88116611 |
skin | malignant_melanoma | Substitution - Missense |
c.375G>A; p.Q125Q; 8:88186505-88186505 |
skin | malignant_melanoma | Substitution - coding silent |
c.1382G>A; p.R461K; 8:88046776-88046776 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1382G>A; p.R461K; 8:88046776-88046776 |
skin | malignant_melanoma | Substitution - Missense |
c.979C>T; p.R327W; 8:88116611-88116611 |
skin | malignant_melanoma | Substitution - Missense |
c.1334G>A; p.W445*; 8:88056167-88056167 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1110C>A; p.N370K; 8:88074717-88074717 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.633C>A; p.F211L; 8:88167745-88167745 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1684G>T; p.V562L; 8:88041601-88041601 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.624T>C; p.H208H; 8:88167754-88167754 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1197C>A; p.S399R; 8:88074630-88074630 |
prostate | carcinoma | Substitution - Missense |
c.995G>A; p.R332K; 8:88116595-88116595 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.478C>A; p.Q160K; 8:88167900-88167900 |
oesophagus | carcinoma | Substitution - Missense |
c.1109A>T; p.N370I; 8:88074718-88074718 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.929G>A; p.R310H; 8:88116661-88116661 |
liver | carcinoma | Substitution - Missense |
c.1772G>T; p.G591V; 8:88041513-88041513 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.929G>A; p.R310H; 8:88116661-88116661 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.560T>G; p.I187S; 8:88167818-88167818 |
skin | malignant_melanoma | Substitution - Missense |
c.1271C>T; p.P424L; 8:88056230-88056230 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1061G>C; p.R354P; 8:88116529-88116529 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.1061G>C; p.R354P; 8:88116529-88116529 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.580G>A; p.G194R; 8:88167798-88167798 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1099C>T; p.R367*; 8:88074728-88074728 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1697C>A; p.A566D; 8:88041588-88041588 |
oesophagus | carcinoma | Substitution - Missense |
c.137G>T; p.W46L; 8:88197302-88197302 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.348T>A; p.R116R; 8:88186532-88186532 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.451G>T; p.A151S; 8:88167927-88167927 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.981G>A; p.R327R; 8:88116609-88116609 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.608G>A; p.G203E; 8:88167770-88167770 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6C>A; p.I2I; 8:88327201-88327201 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1198G>T; p.D400Y; 8:88074629-88074629 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.554C>G; p.T185S; 8:88167824-88167824 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.304G>A; p.G102S; 8:88186576-88186576 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1408G>A; p.D470N; 8:88046750-88046750 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1108A>G; p.N370D; 8:88074719-88074719 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.911C>T; p.P304L; 8:88116679-88116679 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1712G>A; p.C571Y; 8:88041573-88041573 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1073T>A; p.F358Y; 8:88116517-88116517 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.999C>A; p.P333P; 8:88116591-88116591 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.576C>T; p.F192F; 8:88167802-88167802 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.576C>T; p.F192F; 8:88167802-88167802 |
skin | malignant_melanoma | Substitution - coding silent |
c.928C>T; p.R310C; 8:88116662-88116662 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1398G>A; p.M466I; 8:88046760-88046760 |
skin | malignant_melanoma | Substitution - Missense |
c.187C>A; p.L63M; 8:88197252-88197252 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1639G>T; p.D547Y; 8:88041646-88041646 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.140T>C; p.L47S; 8:88197299-88197299 |
liver | carcinoma | Substitution - Missense |
c.1590G>A; p.M530I; 8:88041695-88041695 |
skin | malignant_melanoma | Substitution - Missense |
c.1100G>A; p.R367Q; 8:88074727-88074727 |
skin | malignant_melanoma | Substitution - Missense |
c.893C>A; p.P298Q; 8:88116697-88116697 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.594C>A; p.P198P; 8:88167784-88167784 |
liver | carcinoma | Substitution - coding silent |
c.594C>A; p.P198P; 8:88167784-88167784 |
liver | carcinoma | Substitution - coding silent |
c.402C>A; p.Y134*; 8:88186478-88186478 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1122_1123GG>TT; p.M374_D375>IY; 8:88074704-88074705 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Complex - compound substitution |
c.1482A>T; p.K494N; 8:88046676-88046676 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.684G>A; p.W228*; 8:88167694-88167694 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.156C>A; p.Y52*; 8:88197283-88197283 |
pancreas | carcinoma | Substitution - Nonsense |
c.528A>C; p.E176D; 8:88167850-88167850 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>A; p.S110N; 8:88186551-88186551 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.969A>T; p.P323P; 8:88116621-88116621 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1342G>T; p.V448F; 8:88056159-88056159 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.756G>C; p.L252L; 8:88118815-88118815 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1665G>T; p.L555L; 8:88041620-88041620 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1259A>C; p.Q420P; 8:88056242-88056242 |
skin | malignant_melanoma | Substitution - Missense |
c.446G>T; p.R149L; 8:88167932-88167932 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.190C>T; p.R64C; 8:88197249-88197249 |
prostate | carcinoma | Substitution - Missense |