Entrez Gene

Basic Information
Gene ID	5295
Name	PIK3R1
Synonymous	phosphoinositide-3-kinase, regulatory subunit 1 (alpha);PIK3R1;phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
Definition	PI3-kinase subunit p85-alpha\|PI3K regulatory subunit alpha\|phosphatidylinositol 3-kinase 85 kDa regulatory subunit alpha\|phosphatidylinositol 3-kinase regulatory subunit alpha\|phosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)\|ph
Position	5q13.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.2111T>G; p.V704G; 5:68297537-68297537	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1697_1708del12; p.K567_L570delKPDL; 5:68295276-68295287	breast	carcinoma	Deletion - In frame
c.1543G>A; p.E515K; 5:68294653-68294653	breast	carcinoma	Substitution - Missense
c.1704_1705insGAC; p.P568_D569insD; 5:68295283-68295284	breast	carcinoma	Insertion - In frame
c.1701_1727del27; p.P568_T576del; 5:68295280-68295306	breast	carcinoma	Deletion - In frame
c.38A>T; p.D13V; 5:68226713-68226713	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.1723_1731del9; p.K575_R577del; 5:68295302-68295310	breast	carcinoma	Deletion - In frame
c.1737_1738insGACAAA; p.Q579_Y580insDK; 5:68295316-68295317	breast	carcinoma; basal_(triple-negative)_carcinoma	Insertion - In frame
c.1925G>T; p.R642L; 5:68296281-68296281	breast	carcinoma	Substitution - Missense
c.1529A>T; p.E510V; 5:68294639-68294639	breast	carcinoma	Substitution - Missense
c.1930G>A; p.G644S; 5:68296286-68296286	breast	carcinoma	Substitution - Missense
c.1723_1743del21; p.K575_L581delKTRDQYL; 5:68295302-68295322	breast	carcinoma	Deletion - In frame
c.1370_1371ins12; p.E462_Y463insKSRE; 5:68293779-68293780	breast	carcinoma	Insertion - In frame
c.1346T>C; p.L449S; 5:68293755-68293755	breast	carcinoma	Substitution - Missense
c.1711_1731del21; p.I571_R577delIQLRKTR; 5:68295290-68295310	breast	carcinoma	Deletion - In frame
c.1393_1394ins12; p.E468_E469insGLYE; 5:68293802-68293803	breast	carcinoma	Insertion - In frame
c.1364_1365insGTT; p.Q455_F456insL; 5:68293773-68293774	breast	carcinoma	Insertion - In frame
c.1376_1377ins18; p.R465_L466insSREYDR; 5:68293785-68293786	breast	carcinoma	Insertion - In frame
c.1669C>T; p.R557*; 5:68295248-68295248	breast	carcinoma	Substitution - Nonsense
c.1374_1375insAAAAGT; p.S460_R461insKS; 5:68293783-68293784	breast	carcinoma	Insertion - In frame
c.1218C>A; p.N406K; 5:68293402-68293402	breast	carcinoma	Substitution - Missense
c.1729_1730insGAGACC; p.D578_Q579insRD; 5:68295308-68295309	breast	carcinoma	Insertion - In frame
c.1688_1717del30; p.N564_L573del10; 5:68295267-68295296	breast	carcinoma	Deletion - In frame
c.1688_1689ins39; p.M563_N564ins13; 5:68295267-68295268	breast	carcinoma	Insertion - In frame
c.1723_1724insTGAGAA; p.R574_K575insMR; 5:68295302-68295303	breast	carcinoma	Insertion - In frame
c.1676T>C; p.I559T; 5:68295255-68295255	breast	carcinoma	Substitution - Missense
c.1351_1368del18; p.E451_F456del; 5:68293760-68293777	breast	carcinoma	Deletion - In frame
c.1358_1359insTAA; p.N453_T454insN; 5:68293767-68293768	breast	carcinoma; ductal_carcinoma	Insertion - In frame
c.1900G>C; p.A634P; 5:68296256-68296256	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2007T>A; p.H669Q; 5:68297433-68297433	breast	carcinoma	Substitution - Missense
c.1678G>T; p.D560Y; 5:68295257-68295257	breast	carcinoma	Substitution - Missense
c.1721G>C; p.R574T; 5:68295300-68295300	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1903G>A; p.E635K; 5:68296259-68296259	breast	carcinoma	Substitution - Missense
c.1390G>A; p.D464N; 5:68293799-68293799	breast	carcinoma	Substitution - Missense
c.1930G>T; p.G644C; 5:68296286-68296286	breast	carcinoma	Substitution - Missense
c.1727_1729delCGA; p.T576del; 5:68295306-68295308	breast	carcinoma	Deletion - In frame
c.1319A>G; p.D440G; 5:68293728-68293728	breast	carcinoma	Substitution - Missense
c.1358_1359insTAA; p.453_454insN; 5:68293767-68293768	breast	carcinoma	Insertion - In frame
c.1176C>T; p.F392F; 5:68293360-68293360	breast	carcinoma	Substitution - coding silent
c.1358_1359insTAA; p.453_454insN; 5:68293767-68293768	breast	carcinoma	Insertion - In frame
c.1746-1G>C; p.?; 5:68295419-68295419	breast	carcinoma; basal_(triple-negative)_carcinoma	Unknown
c.1257A>G; p.K419K; 5:68293441-68293441	breast	carcinoma	Substitution - coding silent
c.1345_1347delTTA; p.L449del; 5:68293754-68293756	breast	carcinoma	Deletion - In frame
c.1738_1743delTACTTG; p.Y580_L581del; 5:68295317-68295322	breast	carcinoma	Deletion - In frame
c.1738_1743delTACTTG; p.Y580_L581del; 5:68295317-68295322	breast	carcinoma	Deletion - In frame
c.1042C>T; p.R348*; 5:68293123-68293123	breast	carcinoma	Substitution - Nonsense
c.1720_1722delAGA; p.R574delR; 5:68295299-68295301	breast	carcinoma	Deletion - In frame
c.1719_1727delGAGAAAGAC; p.K575_R577delKTR; 5:68295298-68295306	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Deletion - In frame
c.1746-2A>G; p.?; 5:68295418-68295418	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.1746-2A>G; p.?; 5:68295418-68295418	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1282G>T; p.V428L; 5:68293466-68293466	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1714C>T; p.Q572*; 5:68295293-68295293	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.1746-2A>G; p.?; 5:68295418-68295418	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1313_1315delAAG; p.E439delE; 5:68293722-68293724	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Deletion - In frame
c.1678G>C; p.D560H; 5:68295257-68295257	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1740_1746+3delCTTGATGTA; p.Y580fs*1; 5:68295319-68295599	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1390G>C; p.D464H; 5:68293799-68293799	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1390G>C; p.D464H; 5:68293799-68293799	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1718T>C; p.L573P; 5:68295297-68295297	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1718T>C; p.L573P; 5:68295297-68295297	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1718T>C; p.L573P; 5:68295297-68295297	central_nervous_system; thalamus	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.387G>A; p.P129P; 5:68273442-68273442	central_nervous_system; brain	glioma	Substitution - coding silent
c.1690A>G; p.N564D; 5:68295269-68295269	central_nervous_system; brain	glioma	Substitution - Missense
c.1699A>G; p.K567E; 5:68295278-68295278	central_nervous_system; brainstem	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1699A>G; p.K567E; 5:68295278-68295278	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.1690A>G; p.N564D; 5:68295269-68295269	central_nervous_system; brain	glioma	Substitution - Missense
c.1738T>G; p.Y580D; 5:68295317-68295317	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1937T>C; p.F646S; 5:68296293-68296293	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1138_1140delTTA; p.L380del; 5:68293322-68293324	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.1286C>A; p.S429Y; 5:68293470-68293470	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1746-1_1747delGGT; p.?; 5:68295419-68295421	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1211_1213delTAA; p.I405delI; 5:68293395-68293397	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Deletion - In frame
c.1126G>A; p.G376R; 5:68293310-68293310	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1126G>A; p.G376R; 5:68293310-68293310	central_nervous_system; brain	glioma	Substitution - Missense
c.1126G>A; p.G376R; 5:68293310-68293310	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1126G>A; p.G376R; 5:68293310-68293310	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1126G>A; p.G376R; 5:68293310-68293310	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1126G>A; p.G376R; 5:68293310-68293310	central_nervous_system; brain	glioma; oligodendroglioma_Grade_II	Substitution - Missense
c.1126G>A; p.G376R; 5:68293310-68293310	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1743G>T; p.L581F; 5:68295322-68295322	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1126G>A; p.G376R; 5:68293310-68293310	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1126G>A; p.G376R; 5:68293310-68293310	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1126G>A; p.G376R; 5:68293310-68293310	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1375A>G; p.K459E; 5:68293784-68293784	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.553G>A; p.A185T; 5:68279652-68279652	central_nervous_system; brain	glioma	Substitution - Missense
c.1679A>G; p.D560G; 5:68295258-68295258	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1679A>G; p.D560G; 5:68295258-68295258	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1679A>G; p.D560G; 5:68295258-68295258	central_nervous_system; brain	glioma	Substitution - Missense
c.1709T>C; p.L570P; 5:68295288-68295288	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1348C>T; p.H450Y; 5:68293757-68293757	central_nervous_system; brain	glioma; astrocytoma_Grade_II	Substitution - Missense
c.1745delT; p.M582fs*3; 5:68295324-68295324	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1348_1353delCATGAA; p.H450_E451del; 5:68293757-68293762	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.1719_1720delGA; p.R574fs*27; 5:68295298-68295299	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.1137A>T; p.K379N; 5:68293321-68293321	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1137A>T; p.K379N; 5:68293321-68293321	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1713C>T; p.I571I; 5:68295292-68295292	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1746-1G>C; p.?; 5:68295419-68295419	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1746-1G>C; p.?; 5:68295419-68295419	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Unknown
c.1746-1G>C; p.?; 5:68295419-68295419	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.658A>T; p.I220F; 5:68280551-68280551	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1135A>G; p.K379E; 5:68293319-68293319	central_nervous_system; brainstem	glioma; astrocytoma_Grade_III	Substitution - Missense
c.1135A>G; p.K379E; 5:68293319-68293319	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1135A>G; p.K379E; 5:68293319-68293319	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1348_1353delCATGAA; p.H450_E451del; 5:68293757-68293762	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.1126G>C; p.G376R; 5:68293310-68293310	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1675A>G; p.I559V; 5:68295254-68295254	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1426-21C>A; p.?; 5:68294515-68294515	endometrium	carcinoma; serous_carcinoma	Unknown
c.1681A>T; p.K561*; 5:68295260-68295260	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1719_1727delGAGAAAGAC; p.K575_R577delKTR; 5:68295298-68295306	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1698_1699insA; p.P568fs*34; 5:68295277-68295278	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1977C>A; p.C659*; 5:68296333-68296333	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1746-2A>G; p.?; 5:68295418-68295418	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1746-2A>G; p.?; 5:68295418-68295418	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1119-25C>A; p.?; 5:68293278-68293278	endometrium	carcinoma; serous_carcinoma	Unknown
c.1566A>G; p.Q522Q; 5:68294676-68294676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1325_1327delTTG; p.I442_E443>K; 5:68293734-68293736	endometrium	carcinoma; endometrioid_carcinoma	Complex - deletion inframe
c.1353_1356delATAT; p.Y452fs*27; 5:68293762-68293765	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1739A>G; p.Y580C; 5:68295318-68295318	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1774_1776delAAG; p.K593delK; 5:68295448-68295450	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1370A>C; p.Q457P; 5:68293779-68293779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1712_1713insCCG; p.I571_Q572insR; 5:68295291-68295292	endometrium	carcinoma; endometrioid_carcinoma	Insertion - In frame
c.1348_1362del15; p.H450_T454delHEYNT; 5:68293757-68293771	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1708_1709insT; p.I571fs*31; 5:68295287-68295288	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.458_459delAG; p.S154fs*12; 5:68273969-68273970	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1702C>A; p.P568T; 5:68295281-68295281	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1624_1626delAGA; p.R542del; 5:68295203-68295205	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1345_1365del21; p.L449_Q455delLHEYNTQ; 5:68293754-68293774	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1945C>T; p.R649W; 5:68296301-68296301	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1674_1692del19; p.I559fs*9; 5:68295253-68295271	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1748G>T; p.W583L; 5:68295422-68295422	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.385C>T; p.P129S; 5:68273440-68273440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1717_1722delCTGAGA; p.L573_R574delLR; 5:68295296-68295301	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1745+1delG; p.?; 5:68295325-68295325	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1372_1373insA; p.S460fs*5; 5:68293781-68293782	endometrium	carcinoma; clear_cell_carcinoma	Insertion - Frameshift
c.1768_1769insG; p.Q591fs*11; 5:68295442-68295443	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1729_1734delAGAGAC; p.R577_D578delRD; 5:68295308-68295313	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1738_1745+1delTACTTGATG; p.?; 5:68295317-68295325	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1351_1356delGAATAT; p.E451_Y452del; 5:68293760-68293765	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1348_1350delCAT; p.H450delH; 5:68293757-68293759	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1292_1295delACCA; p.Q432fs*13; 5:68293476-68293479	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1156C>T; p.R386*; 5:68293340-68293340	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1700_1710del11; p.K567fs*31; 5:68295279-68295289	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1718T>C; p.L573P; 5:68295297-68295297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1718T>C; p.L573P; 5:68295297-68295297	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1386_1387delAT; p.Y463fs*1; 5:68293795-68293796	endometrium	carcinoma; clear_cell_carcinoma	Deletion - Frameshift
c.1354T>A; p.Y452N; 5:68293763-68293763	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1745+2delT; p.?; 5:68295326-68295326	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1349_1354delATGAAT; p.E451_Y452delEY; 5:68293758-68293763	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1808_1814+2delCTGAAGAGT; p.?; 5:68295482-68295490	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1393_1409del17; p.R465fs*15; 5:68293802-68293818	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1728_1742del15; p.R577_L581delRDQYL; 5:68295307-68295321	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1385_1386delAA; p.E462fs*2; 5:68293794-68293795	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1736_1738delAAT; p.Q579_Y580>H; 5:68295315-68295317	endometrium	carcinoma; endometrioid_carcinoma	Complex - deletion inframe
c.1072C>T; p.R358*; 5:68293153-68293153	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1897_1898delAA; p.K633fs*2; 5:68296253-68296254	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1529_1530delAA; p.K511fs*2; 5:68294639-68294640	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1690A>G; p.N564D; 5:68295269-68295269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1699A>G; p.K567E; 5:68295278-68295278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1690A>G; p.N564D; 5:68295269-68295269	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1699A>G; p.K567E; 5:68295278-68295278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1699A>G; p.K567E; 5:68295278-68295278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1252delC; p.K419fs*4; 5:68293436-68293436	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1483G>T; p.E495*; 5:68294593-68294593	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1020-13_1026del20; p.?; 5:68293088-68293107	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1741_1742delTT; p.L581fs*20; 5:68295320-68295321	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1383delA; p.E462fs*18; 5:68293792-68293792	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1540C>T; p.R514C; 5:68294650-68294650	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1736_1739delAATA; p.Q579fs*2; 5:68295315-68295318	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1351_1353delGAA; p.E451delE; 5:68293760-68293762	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1358_1390del33; p.T454_D464del; 5:68293767-68293799	endometrium	carcinoma; clear_cell_carcinoma	Deletion - In frame
c.1757_1759delAAA; p.K587delK; 5:68295431-68295433	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1728_1729delGA; p.D578fs*23; 5:68295307-68295308	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1728_1729delGA; p.D578fs*23; 5:68295307-68295308	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1224C>A; p.Y408*; 5:68293408-68293408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1736_1737delAA; p.Q579fs*22; 5:68295315-68295316	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1730_1745+3del19; p.R577_M582>K; 5:68295309-68295327	endometrium	carcinoma; endometrioid_carcinoma	Complex - deletion inframe
c.1630A>T; p.R544*; 5:68295209-68295209	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.825C>A; p.F275L; 5:68280718-68280718	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1382_1383insAGA; p.E462_Y463insE; 5:68293791-68293792	endometrium	carcinoma; endometrioid_carcinoma	Insertion - In frame
c.1365_1382del18; p.F456_R461del; 5:68293774-68293791	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1388A>G; p.Y463C; 5:68293797-68293797	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2153T>C; p.V718A; 5:68297579-68297579	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1391_1399delATAGATTAT; p.R465_Y467delRLY; 5:68293800-68293808	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1643A>G; p.D548G; 5:68295222-68295222	endometrium	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.1386_1387insTATG; p.D464fs*2; 5:68293795-68293796	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.901C>T; p.R301*; 5:68280991-68280991	endometrium	carcinoma; clear_cell_carcinoma	Substitution - Nonsense
c.1426-9_1426-32del24; p.Q475_E476>VLQ; 5:68294504-68294527	endometrium	carcinoma; endometrioid_carcinoma	Complex - insertion inframe
c.1742_1744delTGA; p.M582delM; 5:68295321-68295323	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1211_1213delTAA; p.I405delI; 5:68293395-68293397	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1189_1190insC; p.F398fs*6; 5:68293373-68293374	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1386_1397del12; p.Y463_L466del; 5:68293795-68293806	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1715A>G; p.Q572R; 5:68295294-68295294	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1335_1352del18; p.G446_E451delGKKLHE; 5:68293744-68293761	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1923_1924insC; p.R642fs*12; 5:68296279-68296280	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1340_1372del33; p.L449_K459del11; 5:68293749-68293781	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1728delG; p.R577fs*5; 5:68295307-68295307	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1728delG; p.R577fs*5; 5:68295307-68295307	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1368_1379del12; p.Q457_S460delQEKS; 5:68293777-68293788	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1555A>T; p.K519*; 5:68294665-68294665	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1368_1379del12; p.Q457_S460delQEKS; 5:68293777-68293788	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1697delT; p.K567fs*7; 5:68295276-68295276	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1723_1728delAAGACG; p.K575_T576delKT; 5:68295302-68295307	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.502+1_502+4delGTGA; p.?; 5:68274014-68274017	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1721_1722insA; p.T576fs*26; 5:68295300-68295301	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1020-2_1020-1insG; p.?; 5:68293099-68293100	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1020-2_1020-1insG; p.?; 5:68293099-68293100	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1367_1383>CT; p.F456_R461>S; 5:68293776-68293792	endometrium	carcinoma; endometrioid_carcinoma	Complex - deletion inframe
c.1739delA; p.Y580fs*2; 5:68295318-68295318	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1741_1745+2delTTGATGT; p.?; 5:68295320-68295326	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1494C>A; p.C498*; 5:68294604-68294604	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2171G>A; p.R724Q; 5:68297597-68297597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1346_1349delTACA; p.H450fs*29; 5:68293755-68293758	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1369_1383del15; p.Q457_R461del; 5:68293778-68293792	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1704_1730del27; p.L570_D578delLIQLRKTRD; 5:68295283-68295309	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1508G>A; p.R503Q; 5:68294618-68294618	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2114A>G; p.Q705R; 5:68297540-68297540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1925G>C; p.R642P; 5:68296281-68296281	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1725_1727delGAC; p.T576delT; 5:68295304-68295306	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1373_1375delAAA; p.K459del; 5:68293782-68293784	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1373_1375delAAA; p.K459del; 5:68293782-68293784	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1725_1727delGAC; p.T576delT; 5:68295304-68295306	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1361_1367delCTCAGTT; p.T454fs*24; 5:68293770-68293776	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1215delA; p.N406fs*8; 5:68293399-68293399	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1688_1708del21; p.M563_L570>I; 5:68295267-68295287	endometrium	carcinoma; endometrioid_carcinoma	Complex - deletion inframe
c.1425+2T>G; p.D434_Q475del; 5:68293836-68293836	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1488A>G; p.E496E; 5:68294598-68294598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.154G>T; p.E52*; 5:68226829-68226829	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1730G>A; p.R577K; 5:68295309-68295309	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1212_1213delAA; p.L404fs*7; 5:68293396-68293397	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1381C>T; p.R461*; 5:68293790-68293790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1381C>T; p.R461*; 5:68293790-68293790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1721G>C; p.R574T; 5:68295300-68295300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1378_1392del15; p.S460_D464delSREYD; 5:68293787-68293801	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1719_1721delGAG; p.R574delR; 5:68295298-68295300	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1354T>C; p.Y452H; 5:68293763-68293763	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1354T>C; p.Y452H; 5:68293763-68293763	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1720_1745+3del29; p.?; 5:68295299-68295327	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1719_1727del9; p.R574_T576del; 5:68295298-68295306	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1719_1727del9; p.R574_T576del; 5:68295298-68295306	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1226G>A; p.R409Q; 5:68293410-68293410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1671_1682del12; p.E558_K561delEIDK; 5:68295250-68295261	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1735_1745+2delCAATACTTGATGT; p.?; 5:68295314-68295326	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1369_1386del18; p.Q457_E462delQEKSRE; 5:68293778-68293795	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1362_1376del15; p.Q455_K459delQFQEK; 5:68293771-68293785	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.2103_2104insAGAA; p.S702fs*26; 5:68297529-68297530	endometrium	carcinoma; endometrioid_carcinoma	Insertion - Frameshift
c.1426-13A>G; p.Q475_E476>IMLQ; 5:68294523-68294523	endometrium	carcinoma; endometrioid_carcinoma	Complex - insertion inframe
c.1732_1742del11; p.Q579fs*19; 5:68295311-68295321	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.1399_1425+2del29; p.D434_Q475del; 5:68293808-68293836	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1200_1217del18; p.V401_N406delVVELIN; 5:68293384-68293401	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1370_1372delAAG; p.E458delE; 5:68293779-68293781	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1692C>G; p.N564K; 5:68295271-68295271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1042C>T; p.R348*; 5:68293123-68293123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1398_1409del12; p.L466_Y470>F; 5:68293807-68293818	endometrium	carcinoma; endometrioid_carcinoma	Complex - deletion inframe
c.1924C>T; p.R642*; 5:68296280-68296280	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1924C>T; p.R642*; 5:68296280-68296280	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1924C>T; p.R642*; 5:68296280-68296280	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1325T>G; p.I442S; 5:68293734-68293734	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1348_1353delCATGAA; p.H450_E451del; 5:68293757-68293762	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.1002C>G; p.Y334*; 5:68292344-68292344	endometrium	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2094C>G; p.Y698*; 5:68297520-68297520	endometrium	carcinoma; clear_cell_carcinoma	Substitution - Nonsense
c.1831G>A; p.E611K; 5:68296187-68296187	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.362A>T; p.Q121L; 5:68273417-68273417	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1361C>T; p.T454I; 5:68293770-68293770	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1907_1907delA; p.N636fs*26; 5:68296263-68296263	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Hodgkin_lymphoma	Deletion - Frameshift
c.1718T>C; p.L573P; 5:68295297-68295297	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.2123A>T; p.D708V; 5:68297549-68297549	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1699A>G; p.K567E; 5:68295278-68295278	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1699A>G; p.K567E; 5:68295278-68295278	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.1690A>G; p.N564D; 5:68295269-68295269	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.637G>A; p.V213I; 5:68280530-68280530	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.637G>A; p.V213I; 5:68280530-68280530	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.514G>A; p.V172M; 5:68279613-68279613	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1679A>G; p.D560G; 5:68295258-68295258	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1408T>G; p.Y470D; 5:68293817-68293817	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.366T>C; p.F122F; 5:68273421-68273421	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.635-10A>T; p.?; 5:68280518-68280518	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1363C>A; p.Q455K; 5:68293772-68293772	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1692C>G; p.N564K; 5:68295271-68295271	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; Burkitt_lymphoma	Substitution - Missense
c.629C>A; p.A210D; 5:68279728-68279728	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.849T>G; p.T283T; 5:68280939-68280939	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1196G>A; p.S399N; 5:68293380-68293380	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1784A>T; p.N595I; 5:68295458-68295458	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1008A>G; p.G336G; 5:68292350-68292350	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1309G>T; p.V437F; 5:68293718-68293718	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1541G>T; p.R514L; 5:68294651-68294651	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.484C>T; p.R162*; 5:68273995-68273995	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.484C>T; p.R162*; 5:68273995-68273995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1383A>G; p.R461R; 5:68293792-68293792	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1382G>T; p.R461L; 5:68293791-68293791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1383A>G; p.R461R; 5:68293792-68293792	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2047G>A; p.E683K; 5:68297473-68297473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1746-2A>G; p.?; 5:68295418-68295418	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2047G>A; p.E683K; 5:68297473-68297473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1600C>T; p.R534*; 5:68295179-68295179	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1746_1814del69; p.M582_D605>I; 5:68295420-68295488	large_intestine; colon	carcinoma; adenocarcinoma	Complex - deletion inframe
c.1746_1814del69; p.M582_D605>I; 5:68295420-68295488	large_intestine; colon	carcinoma; adenocarcinoma	Complex - deletion inframe
c.1746_1814del69; p.M582_D605>I; 5:68295420-68295488	large_intestine; colon	carcinoma; adenocarcinoma	Complex - deletion inframe
c.1299+2T>C; p.?; 5:68293485-68293485	large_intestine	carcinoma; adenocarcinoma	Unknown
c.1708C>A; p.L570I; 5:68295287-68295287	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1370A>C; p.Q457P; 5:68293779-68293779	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1528G>T; p.E510*; 5:68294638-68294638	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1492T>C; p.C498R; 5:68294602-68294602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1339delA; p.K448fs*32; 5:68293748-68293748	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1339delA; p.K448fs*32; 5:68293748-68293748	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.853A>G; p.N285D; 5:68280943-68280943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1372_1373insA; p.S460fs*5; 5:68293781-68293782	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2045C>T; p.A682V; 5:68297471-68297471	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2045C>T; p.A682V; 5:68297471-68297471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1627A>G; p.R543G; 5:68295206-68295206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1627A>G; p.R543G; 5:68295206-68295206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1073G>A; p.R358Q; 5:68293154-68293154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1156C>T; p.R386*; 5:68293340-68293340	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1372G>T; p.E458*; 5:68293781-68293781	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1349_1354delATGAAT; p.E451_Y452delEY; 5:68293758-68293763	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.1818A>G; p.Q606Q; 5:68296174-68296174	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.960C>T; p.N320N; 5:68292302-68292302	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1768C>T; p.R590W; 5:68295442-68295442	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1072C>T; p.R358*; 5:68293153-68293153	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1690A>G; p.N564D; 5:68295269-68295269	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1690A>G; p.N564D; 5:68295269-68295269	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1690A>G; p.N564D; 5:68295269-68295269	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1483G>T; p.E495*; 5:68294593-68294593	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.237_238insA; p.I82fs*24; 5:68226912-68226913	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.765_766insA; p.N257fs*10; 5:68280658-68280659	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1000T>C; p.Y334H; 5:68292342-68292342	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1746-9_1748delGTTTTTCAGGTG; p.?; 5:68295411-68295422	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.237_238insA; p.I82fs*24; 5:68226912-68226913	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1540C>T; p.R514C; 5:68294650-68294650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1915C>T; p.R639*; 5:68296271-68296271	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1998A>T; p.E666D; 5:68297424-68297424	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1946G>A; p.R649Q; 5:68296302-68296302	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1946G>A; p.R649Q; 5:68296302-68296302	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1946G>A; p.R649Q; 5:68296302-68296302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1669C>T; p.R557*; 5:68295248-68295248	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1946G>A; p.R649Q; 5:68296302-68296302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.803T>G; p.F268C; 5:68280696-68280696	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1643A>G; p.D548G; 5:68295222-68295222	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1643A>G; p.D548G; 5:68295222-68295222	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1720A>G; p.R574G; 5:68295299-68295299	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1720A>G; p.R574G; 5:68295299-68295299	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1720A>G; p.R574G; 5:68295299-68295299	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1721G>T; p.R574I; 5:68295300-68295300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1721G>T; p.R574I; 5:68295300-68295300	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1759A>C; p.K587Q; 5:68295433-68295433	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1721G>T; p.R574I; 5:68295300-68295300	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.217_218insA; p.Y73fs*1; 5:68226892-68226893	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2113C>T; p.Q705*; 5:68297539-68297539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1386_1397del12; p.Y463_L466del; 5:68293795-68293806	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.1722A>G; p.R574R; 5:68295301-68295301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1126G>A; p.G376R; 5:68293310-68293310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1376A>G; p.K459R; 5:68293785-68293785	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2005_2006insTAAAGC; p.K668_H669insLK; 5:68297431-68297432	large_intestine	carcinoma; adenocarcinoma	Insertion - In frame
c.271_272insCA; p.P92fs*23; 5:68226946-68226947	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.804C>A; p.F268L; 5:68280697-68280697	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1375A>G; p.K459E; 5:68293784-68293784	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1375A>G; p.K459E; 5:68293784-68293784	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1425+2T>C; p.?; 5:68293836-68293836	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1425+2T>C; p.?; 5:68293836-68293836	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1017G>A; p.S339S; 5:68292359-68292359	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1581T>G; p.N527K; 5:68295160-68295160	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1581T>G; p.N527K; 5:68295160-68295160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1508G>A; p.R503Q; 5:68294618-68294618	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1679A>G; p.D560G; 5:68295258-68295258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1679A>G; p.D560G; 5:68295258-68295258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1679A>G; p.D560G; 5:68295258-68295258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1377A>G; p.K459K; 5:68293786-68293786	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1377A>G; p.K459K; 5:68293786-68293786	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1709T>C; p.L570P; 5:68295288-68295288	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.902G>A; p.R301Q; 5:68280992-68280992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.902G>A; p.R301Q; 5:68280992-68280992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.717G>A; p.T239T; 5:68280610-68280610	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.154G>T; p.E52*; 5:68226829-68226829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.903A>G; p.R301R; 5:68280993-68280993	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.154G>T; p.E52*; 5:68226829-68226829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1926A>G; p.R642R; 5:68296282-68296282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1381C>T; p.R461*; 5:68293790-68293790	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1381C>T; p.R461*; 5:68293790-68293790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1381C>T; p.R461*; 5:68293790-68293790	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1381C>T; p.R461*; 5:68293790-68293790	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.623C>A; p.S208Y; 5:68279722-68279722	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1628G>T; p.R543I; 5:68295207-68295207	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1628G>T; p.R543I; 5:68295207-68295207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.854A>G; p.N285S; 5:68280944-68280944	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.854A>G; p.N285S; 5:68280944-68280944	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1391A>G; p.D464G; 5:68293800-68293800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1391A>G; p.D464G; 5:68293800-68293800	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1391A>G; p.D464G; 5:68293800-68293800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1391A>G; p.D464G; 5:68293800-68293800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1391A>G; p.D464G; 5:68293800-68293800	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1391A>G; p.D464G; 5:68293800-68293800	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1694G>A; p.S565N; 5:68295273-68295273	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1397T>G; p.L466*; 5:68293806-68293806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.853A>C; p.N285H; 5:68280943-68280943	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.853A>C; p.N285H; 5:68280943-68280943	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1398A>G; p.L466L; 5:68293807-68293807	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1398A>G; p.L466L; 5:68293807-68293807	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1692C>T; p.N564N; 5:68295271-68295271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1042C>T; p.R348*; 5:68293123-68293123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.961G>T; p.G321C; 5:68292303-68292303	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1042C>T; p.R348*; 5:68293123-68293123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.190delG; p.E65fs*10; 5:68226865-68226865	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1709_1717del9; p.L570_Q572del; 5:68295288-68295296	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1924C>T; p.R642*; 5:68296280-68296280	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1924C>T; p.R642*; 5:68296280-68296280	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.935C>T; p.P312L; 5:68292277-68292277	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.935C>T; p.P312L; 5:68292277-68292277	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.997T>A; p.W333R; 5:68292339-68292339	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1996G>A; p.E666K; 5:68297422-68297422	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1680C>T; p.D560D; 5:68295259-68295259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1996G>A; p.E666K; 5:68297422-68297422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.65T>C; p.I22T; 5:68226740-68226740	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1299+2T>C; p.?; 5:68293485-68293485	liver	carcinoma	Unknown
c.1299+2T>C; p.?; 5:68293485-68293485	liver	carcinoma	Unknown
c.2068T>C; p.S690P; 5:68297494-68297494	liver	carcinoma	Substitution - Missense
c.2068T>C; p.S690P; 5:68297494-68297494	liver	carcinoma	Substitution - Missense
c.1426-9A>G; p.?; 5:68294527-68294527	liver	carcinoma	Unknown
c.1355A>G; p.Y452C; 5:68293764-68293764	liver	carcinoma	Substitution - Missense
c.1110_1111insACA; p.T371_L372insT; 5:68293191-68293192	liver	carcinoma	Insertion - In frame
c.219C>T; p.Y73Y; 5:68226894-68226894	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1073G>T; p.R358L; 5:68293154-68293154	liver	carcinoma	Substitution - Missense
c.540C>T; p.H180H; 5:68279639-68279639	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1384G>T; p.E462*; 5:68293793-68293793	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1678G>A; p.D560N; 5:68295257-68295257	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2121C>T; p.N707N; 5:68297547-68297547	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.176A>G; p.Y59C; 5:68226851-68226851	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.386C>T; p.P129L; 5:68273441-68273441	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.339G>C; p.L113F; 5:68273394-68273394	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.610A>T; p.S204C; 5:68279709-68279709	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1591T>C; p.L531L; 5:68295170-68295170	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1020-1G>T; p.?; 5:68293100-68293100	lung	carcinoma; adenocarcinoma	Unknown
c.731T>G; p.L244*; 5:68280624-68280624	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1880G>C; p.G627A; 5:68296236-68296236	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1309G>T; p.V437F; 5:68293718-68293718	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.841G>T; p.D281Y; 5:68280931-68280931	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1382_1393del12; p.E462_R465delEYDR; 5:68293791-68293802	lung	carcinoma; small_cell_carcinoma	Deletion - In frame
c.603C>T; p.A201A; 5:68279702-68279702	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2082G>T; p.L694L; 5:68297508-68297508	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1725_1730delGACGAG; p.T576_R577delTR; 5:68295304-68295309	meninges	meningioma	Deletion - In frame
c.777G>A; p.L259L; 5:68280670-68280670	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.871G>C; p.E291Q; 5:68280961-68280961	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1699A>G; p.K567E; 5:68295278-68295278	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1355A>G; p.Y452C; 5:68293764-68293764	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1667_1675delATCGAGAAA; p.Y556_I559>F; 5:68295246-68295254	oesophagus	carcinoma; adenocarcinoma	Complex - deletion inframe
c.1727C>T; p.T576M; 5:68295306-68295306	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1390G>A; p.D464N; 5:68293799-68293799	oesophagus	carcinoma	Substitution - Missense
c.904C>T; p.Q302*; 5:68280994-68280994	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1814_1814+3delAGTA; p.?; 5:68295488-68295491	ovary	carcinoma	Unknown
c.1746_1814del69; p.M582_D605>I; 5:68295420-68295488	ovary	carcinoma	Complex - deletion inframe
c.1695C>A; p.S565R; 5:68295274-68295274	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1709_1735del27; p.L570_D578del; 5:68295288-68295314	ovary	carcinoma	Deletion - In frame
c.1426-2_1426-1delAG; p.?; 5:68294534-68294535	ovary	carcinoma	Unknown
c.1746-4_1753del8; p.?; 5:68295416-68295427	ovary	carcinoma	Unknown
c.917-1G>C; p.?; 5:68292258-68292258	ovary	carcinoma; serous_carcinoma	Unknown
c.2151A>C; p.P717P; 5:68297577-68297577	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1425+1G>T; p.?; 5:68293835-68293835	ovary	carcinoma	Unknown
c.2135T>A; p.V712D; 5:68297561-68297561	pancreas	carcinoma	Substitution - Missense
c.1140_1143delAATC; p.I381fs*15; 5:68293324-68293327	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.1746-2A>G; p.?; 5:68295418-68295418	prostate	carcinoma	Unknown
c.545delT; p.L182fs*25; 5:68279644-68279644	prostate	carcinoma	Deletion - Frameshift
c.347C>A; p.P116Q; 5:68273402-68273402	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1782G>T; p.L594F; 5:68295456-68295456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1392_1403del12; p.D464_E468>E; 5:68293801-68293812	skin	malignant_melanoma	Complex - deletion inframe
c.1185A>T; p.P395P; 5:68293369-68293369	skin	malignant_melanoma	Substitution - coding silent
c.1909C>T; p.L637L; 5:68296265-68296265	skin	malignant_melanoma	Substitution - coding silent
c.1939C>T; p.L647F; 5:68296295-68296295	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1690A>G; p.N564D; 5:68295269-68295269	skin	malignant_melanoma	Substitution - Missense
c.978G>A; p.M326I; 5:68292320-68292320	skin	malignant_melanoma	Substitution - Missense
c.1669C>T; p.R557*; 5:68295248-68295248	skin; mucosal	malignant_melanoma	Substitution - Nonsense
c.1636G>C; p.E546Q; 5:68295215-68295215	skin	malignant_melanoma	Substitution - Missense
c.1735_1736insC; p.Q579fs*23; 5:68295314-68295315	skin; face	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.750C>T; p.L250L; 5:68280643-68280643	skin	malignant_melanoma	Substitution - coding silent
c.1425+2T>G; p.D434_Q475del; 5:68293836-68293836	skin	malignant_melanoma	Deletion - In frame
c.266C>T; p.P89L; 5:68226941-68226941	skin	malignant_melanoma	Substitution - Missense
c.1042C>T; p.R348*; 5:68293123-68293123	skin	malignant_melanoma	Substitution - Nonsense
c.1042C>T; p.R348*; 5:68293123-68293123	skin	malignant_melanoma	Substitution - Nonsense
c.1389T>G; p.Y463*; 5:68293798-68293798	skin	malignant_melanoma	Substitution - Nonsense
c.807C>T; p.S269S; 5:68280700-68280700	skin	malignant_melanoma	Substitution - coding silent
c.1924C>T; p.R642*; 5:68296280-68296280	skin	malignant_melanoma	Substitution - Nonsense
c.484C>T; p.R162*; 5:68273995-68273995	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1714C>T; p.Q572*; 5:68295293-68295293	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1699A>G; p.K567E; 5:68295278-68295278	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1425+1G>A; p.?; 5:68293835-68293835	stomach	carcinoma; adenocarcinoma	Unknown
c.1871G>A; p.W624*; 5:68296227-68296227	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2063A>G; p.Y688C; 5:68297489-68297489	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.731T>C; p.L244S; 5:68280624-68280624	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1725_1727delGAC; p.T576delT; 5:68295304-68295306	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.238delA; p.I82fs*32; 5:68226913-68226913	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1850C>G; p.P617R; 5:68296206-68296206	thyroid	carcinoma	Substitution - Missense
c.400A>T; p.K134*; 5:68273455-68273455	thyroid	other; neoplasm	Substitution - Nonsense
c.1776_1777GA>CT; p.K592_K593>N*; 5:68295450-68295451	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Complex - compound substitution
c.1678G>C; p.D560H; 5:68295257-68295257	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1678G>C; p.D560H; 5:68295257-68295257	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1699A>G; p.K567E; 5:68295278-68295278	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1354_1355insATA; p.N453_T454insN; 5:68293763-68293764	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.978G>A; p.M326I; 5:68292320-68292320	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1354_1355insATA; p.N453_T454insN; 5:68293763-68293764	upper_aerodigestive_tract; sinonasal_and_nasal_cavity	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.868A>G; p.I290V; 5:68280958-68280958	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.868A>G; p.I290V; 5:68280958-68280958	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1728G>A; p.T576T; 5:68295307-68295307	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1508G>T; p.R503L; 5:68294618-68294618	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1721G>C; p.R574T; 5:68295300-68295300	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.827C>G; p.S276*; 5:68280720-68280720	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2009G>A; p.C670Y; 5:68297435-68297435	urinary_tract; bladder	carcinoma	Substitution - Missense

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COSMIC confirmed somatic mutation [Top]

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