COSM3560211 | c.891G>A | p.R297R | Substitution - coding silent | Skin
|
COSM3560215 | c.475T>A | p.L159I | Substitution - Missense | Skin
|
COSM1264946 | c.905A>C | p.K302T | Substitution - Missense | Oesophagus
|
COSM3035796 | c.782G>T | p.S261I | Substitution - Missense | Large_intestine
|
COSM1720336 | c.332A>T | p.D111V | Substitution - Missense | Skin
|
COSM3560203 | c.1998C>T | p.F666F | Substitution - coding silent | Skin
|
COSM1264947 | c.1954G>A | p.A652T | Substitution - Missense | Oesophagus
|
COSM1467076 | c.1928C>T | p.T643I | Substitution - Missense | Large_intestine
|
COSM164201 | c.93T>C | p.D31D | Substitution - coding silent | Breast
|
COSM3759441 | c.342C>T | p.D114D | Substitution - coding silent | Central_nervous_system
|
COSM247199 | c.581T>C | p.I194T | Substitution - Missense | Prostate
|
COSM170536 | c.1723C>T | p.R575* | Substitution - Nonsense | Large_intestine
|
COSM3560216 | c.462G>A | p.M154I | Substitution - Missense | Skin
|
COSM4399235 | c.1117C>T | p.P373S | Substitution - Missense | Skin
|
COSM5988781 | c.1117C>A | p.P373T | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM5885002 | c.1253G>A | p.R418H | Substitution - Missense | Large_intestine
|
COSM3390546 | c.943A>G | p.K315E | Substitution - Missense | Pancreas
|
COSM1737806 | c.1717T>A | p.F573I | Substitution - Missense | Central_nervous_system
|
COSM4515409 | c.1093_1094GG>AA | p.G365K | Substitution - Missense | Skin
|
COSM3747400 | c.1068A>G | p.T356T | Substitution - coding silent | Liver
|
COSM3939902 | c.845G>C | p.R282T | Substitution - Missense | Oesophagus
|
COSM4723975 | c.1523T>C | p.V508A | Substitution - Missense | Large_intestine
|
COSM1319466 | c.139G>T | p.A47S | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM4108455 | c.1842A>G | p.V614V | Substitution - coding silent | Stomach
|
COSM4723977 | c.1288_1289insG | p.E430fs*21 | Insertion - Frameshift | Large_intestine
|
COSM5791660 | c.148G>C | p.E50Q | Substitution - Missense | Breast
|
COSM164202 | c.330C>T | p.V110V | Substitution - coding silent | Skin
|
COSM3406210 | c.90G>A | p.R30R | Substitution - coding silent | Central_nervous_system
|
COSM5927976 | c.201G>A | p.M67I | Substitution - Missense | Skin
|
COSM3560210 | c.931C>T | p.P311S | Substitution - Missense | Skin
|
COSM1118755 | c.1850C>A | p.P617H | Substitution - Missense | Endometrium
|
COSM1224804 | c.166C>G | p.Q56E | Substitution - Missense | Large_intestine
|
COSM164201 | c.93T>C | p.D31D | Substitution - coding silent | Breast
|
COSM5807586 | c.281G>C | p.R94P | Substitution - Missense | Liver
|
COSM488225 | c.6A>G | p.G2G | Substitution - coding silent | Kidney
|
COSM270870 | c.1412G>T | p.R471M | Substitution - Missense | Large_intestine
|
COSM3560217 | c.94G>A | p.D32N | Substitution - Missense | Skin
|
COSM164202 | c.330C>T | p.V110V | Substitution - coding silent | Breast
|
COSM1319467 | c.1764C>T | p.D588D | Substitution - coding silent | Haematopoietic_and_lymphoid_tissue
|
COSM3035776 | c.1938G>A | p.Q646Q | Substitution - coding silent | Skin
|
COSM1714702 | c.1714G>A | p.D572N | Substitution - Missense | Skin
|
COSM4949762 | c.23-2A>T | p.? | Unknown | Liver
|
COSM3560213 | c.733C>T | p.P245S | Substitution - Missense | Skin
|
COSM315007 | c.2031G>T | p.M677I | Substitution - Missense | Lung
|
COSM1467077 | c.1493G>T | p.R498L | Substitution - Missense | Large_intestine
|
COSM1636457 | c.971G>T | p.C324F | Substitution - Missense | Liver
|
COSM5692276 | c.1277C>T | p.S426F | Substitution - Missense | Soft_tissue
|
COSM4400687 | c.494C>T | p.P165L | Substitution - Missense | Skin
|
COSM1625756 | c.94delG | p.D32fs*8 | Deletion - Frameshift | Liver
|
COSM1490761 | c.256A>G | p.I86V | Substitution - Missense | Breast
|
COSM3035793 | c.918A>T | p.P306P | Substitution - coding silent | Large_intestine
|
COSM1756492 | c.1155G>A | p.P385P | Substitution - coding silent | Urinary_tract
|
COSM273750 | c.1951_1952insC | p.L651fs*9 | Insertion - Frameshift | Large_intestine
|
COSM1467079 | c.308G>T | p.R103I | Substitution - Missense | Large_intestine
|
COSM3844242 | c.1031A>G | p.D344G | Substitution - Missense | Breast
|
COSM1118770 | c.140C>A | p.A47D | Substitution - Missense | Endometrium
|
COSM3747399 | c.1890C>G | p.T630T | Substitution - coding silent | Liver
|
COSM3844243 | c.685T>G | p.W229G | Substitution - Missense | Breast
|
COSM2149741 | c.1883C>A | p.P628H | Substitution - Missense | Central_nervous_system
|
COSM315007 | c.2031G>T | p.M677I | Substitution - Missense | Soft_tissue
|
COSM5723289 | c.607C>T | p.H203Y | Substitution - Missense | Skin
|
COSM212431 | c.224G>A | p.R75H | Substitution - Missense | Breast
|
COSM284811 | c.1094G>T | p.G365V | Substitution - Missense | Large_intestine
|
COSM356396 | c.364G>A | p.E122K | Substitution - Missense | Lung
|
COSM3560206 | c.1669C>T | p.P557S | Substitution - Missense | Skin
|
COSM235316 | c.675C>T | p.F225F | Substitution - coding silent | Skin
|
COSM1720336 | c.332A>T | p.D111V | Substitution - Missense | Skin
|
COSM4750651 | c.108G>T | p.E36D | Substitution - Missense | Stomach
|
COSM5723289 | c.607C>T | p.H203Y | Substitution - Missense | Skin
|
COSM1163564 | c.319_320insT | p.W107fs*16 | Insertion - Frameshift | Pancreas
|
COSM4472733 | c.1801C>T | p.Q601* | Substitution - Nonsense | Skin
|
COSM3560214 | c.555C>T | p.N185N | Substitution - coding silent | Skin
|
COSM3560208 | c.1128C>T | p.I376I | Substitution - coding silent | Skin
|
COSM1467078 | c.1256G>A | p.G419E | Substitution - Missense | Large_intestine
|
COSM3844240 | c.1670C>T | p.P557L | Substitution - Missense | Breast
|
COSM1331942 | c.1623A>G | p.S541S | Substitution - coding silent | Ovary
|
COSM5366858 | c.310A>C | p.N104H | Substitution - Missense | Large_intestine
|
COSM357787 | c.1430C>T | p.S477F | Substitution - Missense | Lung
|
COSM1118754 | c.1878G>T | p.K626N | Substitution - Missense | Endometrium
|
COSM4564375 | c.1153_1154CC>TT | p.P385L | Substitution - Missense | Skin
|
COSM1264945 | c.1036G>A | p.A346T | Substitution - Missense | Stomach
|
COSM3844241 | c.1163T>G | p.V388G | Substitution - Missense | Breast
|
COSM4108457 | c.10A>C | p.T4P | Substitution - Missense | Stomach
|
COSM5662356 | c.1672G>C | p.A558P | Substitution - Missense | Soft_tissue
|
COSM121800 | c.339A>G | p.P113P | Substitution - coding silent | Upper_aerodigestive_tract
|
COSM1118760 | c.1575A>G | p.E525E | Substitution - coding silent | Endometrium
|
COSM5814437 | c.1578A>G | p.P526P | Substitution - coding silent | Liver
|
COSM4883178 | c.1044G>T | p.G348G | Substitution - coding silent | Upper_aerodigestive_tract
|
COSM3035796 | c.782G>T | p.S261I | Substitution - Missense | Large_intestine
|
COSM1118767 | c.427A>G | p.M143V | Substitution - Missense | Endometrium
|
COSM4108456 | c.1012C>T | p.R338C | Substitution - Missense | Stomach
|
COSM5711570 | c.552_553insA | p.N185fs*14 | Insertion - Frameshift | Haematopoietic_and_lymphoid_tissue
|
COSM5412401 | c.1665G>A | p.L555L | Substitution - coding silent | Skin
|
COSM4169834 | c.277T>A | p.L93I | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM4796874 | c.1305G>A | p.Q435Q | Substitution - coding silent | Liver
|
COSM1118763 | c.1159C>A | p.P387T | Substitution - Missense | Endometrium
|
COSM3719354 | c.1079A>G | p.Y360C | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM3913729 | c.1655G>A | p.G552E | Substitution - Missense | Skin
|
COSM5723289 | c.607C>T | p.H203Y | Substitution - Missense | Skin
|
COSM1118756 | c.1776G>A | p.K592K | Substitution - coding silent | Endometrium
|
COSM211501 | c.1354T>A | p.F452I | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM4108456 | c.1012C>T | p.R338C | Substitution - Missense | Stomach
|
COSM1636457 | c.971G>T | p.C324F | Substitution - Missense | Liver
|
COSM301062 | c.444A>G | p.T148T | Substitution - coding silent | Large_intestine
|
COSM3560209 | c.998C>T | p.S333L | Substitution - Missense | Skin
|
COSM5437523 | c.277T>G | p.L93V | Substitution - Missense | Oesophagus
|
COSM756632 | c.640G>C | p.D214H | Substitution - Missense | Lung
|
COSM4773897 | c.487-1G>A | p.? | Unknown | Stomach
|
COSM756635 | c.1647A>T | p.L549L | Substitution - coding silent | Lung
|
COSM1118759 | c.1614G>T | p.E538D | Substitution - Missense | Endometrium
|
COSM4569371 | c.170T>C | p.I57T | Substitution - Missense | Skin
|
COSM756634 | c.883C>G | p.P295A | Substitution - Missense | Lung
|
COSM1118761 | c.1533_1534delTC | p.P512fs*1 | Deletion - Frameshift | Endometrium
|
COSM5723289 | c.607C>T | p.H203Y | Substitution - Missense | Skin
|
COSM1118758 | c.1705G>T | p.V569F | Substitution - Missense | Endometrium
|
COSM1315404 | c.764C>T | p.S255F | Substitution - Missense | Urinary_tract
|
COSM756636 | c.1995G>T | p.L665L | Substitution - coding silent | Lung
|
COSM3035786 | c.1385delT | p.L462fs*1 | Deletion - Frameshift | Large_intestine
|
COSM5777739 | c.162+10G>A | p.? | Unknown | Breast
|
COSM4796874 | c.1305G>A | p.Q435Q | Substitution - coding silent | Liver
|
COSM1726423 | c.199A>G | p.M67V | Substitution - Missense | Liver
|
COSM1118768 | c.426G>A | p.P142P | Substitution - coding silent | Endometrium
|
COSM3759441 | c.342C>T | p.D114D | Substitution - coding silent | Large_intestine
|
COSM1118762 | c.1457-2A>T | p.? | Unknown | Endometrium
|
COSM4333259 | c.947A>G | p.K316R | Substitution - Missense | Biliary_tract
|
COSM4643400 | c.623G>A | p.G208D | Substitution - Missense | Large_intestine
|
COSM1714702 | c.1714G>A | p.D572N | Substitution - Missense | Skin
|
COSM3670278 | c.774C>T | p.S258S | Substitution - coding silent | Central_nervous_system
|
COSM4826526 | c.921G>C | p.R307S | Substitution - Missense | Cervix
|
COSM1714701 | c.2099G>A | p.S700N | Substitution - Missense | Skin
|
COSM3035796 | c.782G>T | p.S261I | Substitution - Missense | Large_intestine
|
COSM4723976 | c.1446A>C | p.K482N | Substitution - Missense | Large_intestine
|
COSM1118766 | c.441G>T | p.K147N | Substitution - Missense | Endometrium
|
COSM3560207 | c.1542C>T | p.L514L | Substitution - coding silent | Skin
|
COSM1118765 | c.483G>T | p.K161N | Substitution - Missense | Endometrium
|
COSM4418844 | c.342C>A | p.D114E | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM1118769 | c.251C>T | p.T84M | Substitution - Missense | Endometrium
|
COSM4935916 | c.835C>G | p.Q279E | Substitution - Missense | Liver
|
COSM3560212 | c.840C>T | p.V280V | Substitution - coding silent | Skin
|
COSM4977126 | c.528G>A | p.M176I | Substitution - Missense | Oesophagus
|
COSM1557353 | c.1360C>T | p.H454Y | Substitution - Missense | Central_nervous_system
|
COSM1756492 | c.1155G>A | p.P385P | Substitution - coding silent | Urinary_tract
|
COSM5519850 | c.1154C>T | p.P385L | Substitution - Missense | Biliary_tract
|
COSM1682427 | c.1906G>A | p.V636M | Substitution - Missense | Haematopoietic_and_lymphoid_tissue
|
COSM1118757 | c.1736G>A | p.G579D | Substitution - Missense | Endometrium
|
COSM5921950 | c.764C>A | p.S255Y | Substitution - Missense | Skin
|
COSM488224 | c.91G>C | p.D31H | Substitution - Missense | Kidney
|
COSM4951716 | c.430T>G | p.F144V | Substitution - Missense | Liver
|
COSM164201 | c.93T>C | p.D31D | Substitution - coding silent | Breast
|
COSM3560202 | c.2090G>A | p.G697E | Substitution - Missense | Skin
|
COSM5799798 | c.1327T>G | p.S443A | Substitution - Missense | Breast
|
COSM3035784 | c.1406C>A | p.S469Y | Substitution - Missense | Large_intestine
|
COSM5588884 | c.1724G>A | p.R575Q | Substitution - Missense | Skin
|
COSM5430246 | c.1665G>C | p.L555F | Substitution - Missense | Oesophagus
|
COSM1118764 | c.980C>A | p.S327Y | Substitution - Missense | Endometrium
|
COSM4005062 | c.1789G>T | p.E597* | Substitution - Nonsense | Urinary_tract
|
COSM1714702 | c.1714G>A | p.D572N | Substitution - Missense | Skin
|
COSM323214 | c.1892G>T | p.W631L | Substitution - Missense | Lung
|
COSM3560204 | c.1962C>T | p.L654L | Substitution - coding silent | Skin
|
COSM4888165 | c.1438C>A | p.H480N | Substitution - Missense | Upper_aerodigestive_tract
|
COSM1472234 | c.1313C>T | p.P438L | Substitution - Missense | Prostate
|
COSM3844243 | c.685T>G | p.W229G | Substitution - Missense | Breast
|
COSM4951716 | c.430T>G | p.F144V | Substitution - Missense | Liver
|
COSM5368051 | c.1823-8_1823-7insC | p.? | Unknown | Large_intestine
|
COSM1664052 | c.1501C>T | p.Q501* | Substitution - Nonsense | Kidney
|
COSM3560205 | c.1880A>C | p.D627A | Substitution - Missense | Skin
|
COSM4949762 | c.23-2A>T | p.? | Unknown | Liver
|
COSM756637 | c.2063G>T | p.C688F | Substitution - Missense | Lung
|
COSM756633 | c.779C>A | p.A260E | Substitution - Missense | Lung
|